case_id
stringlengths 12
14
| gender
stringclasses 4
values | age
int8 0
98
| case_text
stringlengths 216
57.5k
| keywords
stringlengths 8
843
⌀ | image_file
imagewidth (px) 136
1.66k
⌀ | caption
stringclasses 584
values |
|---|---|---|---|---|---|---|
PMC5485275_01
|
Female
| 90
|
A 90-year-old female was admitted to our hospital complaining of pain around the left hip after a fall. She had a history of undergoing hip arthrodesis surgery following onset of tuberculosis in her 40s. Although her left hip was immovable with the affected leg length appearing shortened, she had still been able to walk long distances using a cane prior to the injury.
Radiographs showed both proximal femoral and pelvic fractures. The fracture line started from the ilium, involving the original femoral head, and ended at the basicervical part of the femoral neck (Figures 1(a)-1(e)). The fracture type appeared to be a vertical fracture. A computed tomography (CT) scan of the pelvis revealed ankylosis between the acetabulum and proximal femoral head. The structural border could not be identified between the pelvic bone and femur head. Surrounding tissues including subcutaneous tissue and the muscles were observed to be severely atrophied in comparison with those of the opposite side. Although the amount of displacement was approximately 2 mm, the vertical fracture was believed to be unstable and had a risk of displacement worsening during any increase in weight bearing. At this point, we determined the appropriate surgical intervention.
Although several surgical options have been reported previously in the literature, the proper techniques for certain distinctive scenarios have not yet been well described. In this case, double-plate fixation was thought to be the right surgical option to achieve rigid fixation with pelvis.
Surgery was performed under general anesthesia. Displacement was increased with passive hip adduction, and obvious instability was confirmed (Figure 1(b)).
The patient was placed in the right lateral decubitus position with the injured side abducted. The lateral approach with a single vertical incision was chosen. After splitting the atrophied gluteus maximus, the fascia of the gluteus medius was exposed. The anterior border of the gluteus medius was identified, and the tensor fasciae latae was retracted anteriorly. The gluteus medius was elevated to access the anteromedial part of fracture. The posterior part of fracture line was then similarly exposed by retracting the gluteus medius anteriorly (Figures 2(a) and 2(b)).
A reconstruction plate was placed at the posterior and anterior columns with anatomical bending. Screws were inserted in a bicortical manner. Distal screws were inserted to the original femoral head through the fracture line (Figure 3). Appropriate reduction and rigid fixation were confirmed under the image intensifier (Figures 3(a)-3(d)).
Postoperatively, the patient was immobilized with a hip spica cast for 4 weeks. Then, partial weight bearing was initiated, and full weight bearing was allowed beginning at 8 weeks after surgery. The fracture appeared united on the radiographs examined 3 months after surgery. In the follow-up 10 months after surgery, radiographs and CT revealed bone union without fracture site displacement and no implant complication (Figures 4(a) and 4(b)). She returned her ADL activities as preinjury levels.
| null | Not supported with pagination yet
| null |
PMC4643472_01
|
Male
| 74
|
A 74 year-old man with a longstanding history of chronic gastritis and effective eradication of Helicobacter pylori, presented with aggravated heartburn and dysphagia at the level of the xiphisternum for five years. After several upper GI endoscopies showing mild atrophic gastritis in the antrum, had a computerised tomography that revealed a 4 x 3 x 3 cm low-density nodule containing a small focus of calcification arising from the posterior wall of the gastric fundus, suspicious of an exophytic GIST (Fig. 1). The case was discussed in a sarcoma multidisciplinary meeting with a consensual decision to proceed to surgery due to tumour size and symptoms. The patient underwent laparoscopic excision of the GIST and was discharged after five days of operation. He remained disease free after five months of follow up and did not receive adjuvant treatment. There was no history of NF-1 or other relevant family history.
The resection specimen was composed of a gastric wall measuring 5.5 x 4 x 3.5 cm. There were two papillary tumour masses lightly adherent to the serosal surface, the larger measuring 4 x 3 x 3 cm and the smallest 3 x 3 x 2.5 cm, both part of a single mass that fragmented during contraction on removal and fixation. There was one separate firm, white nodule measuring 0.8 x 0.7 x 0.4 cm on the serosa and involving the muscularis propria, 3.5 cm from the margin (Fig. 2).
Both the large and the smaller visible nodules had identical morphology, with compact arrangements of relatively uniform spindle cells with elongated nuclei, inconspicuous nucleoli and small, well-defined paranuclear cytoplasmic vacuoles. There was no necrosis. The tumours were covered by an intact peritoneal surface. The mitotic index was 4 per 50HPF. In addition, the Ki67 index, discounting infiltrating lymphoid cells, was 2.5% in the larger tumour and 6% in the smaller nodule.
There was very subtle diffuse infiltrative component within the muscularis propria, highlighted on the immunohistochemistry for DOG1 and CD117 (Fig. 3). The tissue immediately adjacent to the staple line contained a further microscopic focus of GIST ('tumorlet') measuring 0.7 x 0.3 mm (Fig. 4).
Additional staining with CD117 and DOG1 demonstrated a markedly increased density of immunoreactive cells in the apparent uninvolved muscularis propria in the vicinity of the peduncle of the large tumour.
Using capillary electrophoresis single-strand conformation analysis (CE-SSCA), a deletion involving codon 560 in c-KIT exon 11 (c.1679_1681del p.-Val560del) was detected in both the solid and the diffuse components. This result was confirmed on a second, independent investigation. There was no detectable mutation in the PDGFRA gene.
|
gastrointestinal stromal tumors, hyperplasia, interstitial cells of cajal
| Not supported with pagination yet
| null |
PMC8476279_01
|
Male
| 50
|
A 50-year-old Caucasian male presented to the emergency department, complaining of sudden vision loss and the presence of scotoma in his left eye (OS) with no ocular pain or discomfort. His past ophthalmic history was unremarkable. The patient had a history of painful anal fissure under treatment with GTN 0.2% ointment three times daily for the previous 2 months. After almost every application of the ointment, he was symptomatic with headache and dizziness that were partially relieved by common analgesics. He also reported that during the previous 15 days, pain from the fissure was significantly stronger, especially after bowel movement, which caused him to apply the ointment more often (up to 6 times daily). During the last 3 days, he reported episodes of transient postural hypotension. He was under no other medications and reported only occasional consumption of caffeine. He had no history of smoking, excessive drinking, or substance abuse.
Best-corrected visual acuity (BCVA) was 85 ETDRS letters OD and 75 ETDRS letters OS. Intraocular pressure was within normal limits. RAPD was negative in both eyes, and Ishihara plates showed no apparent dyschromatopsia. Anterior chamber examination of both eyes was unremarkable. There were no significant fundoscopic findings OD. Fundoscopy OS revealed mild retinal venous dilatation and tortuosity with scattered blot hemorrhages (Figures 1(a) and 1(b)). In the outer retina, subtle, parafoveal, whitish lesions were noted. Extensive multimodal imaging which included OCT, fundus autofluorescence (FAF), optical coherence tomography-angiography (OCT-A), and fluorescein angiography (FA) was performed (Figures 1(c)-1(h)).
Swept-source-optical coherence tomography (DRI OCT Triton, SS-OCT) demonstrated diffuse, hyperreflective lesions at the level of the inner plexiform layer (IPL), inner nuclear layer (INL), and outer plexiform layer (OPL) compatible with Paracentral Acute Middle Maculopathy (PAMM, Figures 2(a) and 2(b)). Fundus autofluorescence did not reveal any hyper- or hypofluorescent lesions of the Retinal Pigment Epithelium (RPE). Optical coherence tomography-angiography (DRI OCT Triton, SS-OCT) revealed a focal, small area of capillary dropout in the deep capillary plexus. Superficial capillary plexus, outer retina, and choriocapillaris appeared normal. No other vascular abnormalities were apparent. Fluorescein angiography revealed normal arteriovenous transit time, masking effect due to blot hemorrhages, and early punctuate leakage in the inner retina (Figure 3).
An extensive haematological workup which included complete blood count, fasting blood sugar and hemoglobin A1c, ESR, CRP, LDL, HDL, plasma homocysteine level, rheumatoid factor, ANA, ANCA, SACE, FTA-ABS, VDRL, antiphospholipid antibodies, protein C and S levels, factor V Leiden, cryoglobulins and a thrombophilia screen was performed. Moreover, plasma protein electrophoresis, chest X-ray (for the exclusion of sarcoidosis, tuberculosis, and left ventricular hypertrophy), and a magnetic resonance angiography (for any vascular stenosis) with contrast dye were also performed. The patient was also referred to cardiology for a full assessment with electrocardiogram, carotid Doppler imaging, cardiac echocardiogram, and rhythm and blood pressure Holter monitoring. There was no cardiological or vascular disease diagnosed. Haematological workup, X-ray, and MRA revealed no pathological findings.
The patient was advised to immediately discontinue any application of the drug. During the following month, the patient did not experience any of his previous symptoms and his visual acuity OS was 80 ETDRS letters with no RAPD. Fundoscopy revealed partial resolution of blot hemorrhages. The macula appeared normal. OCT revealed retinal disruption and thinning at the level of INL and OPL and partial resolution of the hyperreflective lesions (Figure 2(c)). OCT-A remained unaltered (Figure 1(i)).
Six months later, the patient was free of symptoms. Visual acuity OS was 80 ETDRS letters. Fundoscopy revealed complete resolution of the hemorrhages and the whitish lesions (Figure 1(j)). OCT showed INL and OPL thinning and complete resolution of the hyperreflective lesions (Figure 2(d)).
The patient mentioned that 8 months after the initial diagnosis, he had an exacerbation of symptoms regarding his anal fissure. He applied the ointment twice during a day for 4 days, which led to the remission of headaches and transient reduction of his visual acuity. He discontinued the drug application.
| null | Not supported with pagination yet
| null |
PMC9187258_01
|
Female
| 60
|
A 60-year-old female without smoking history presented with persisting dry cough. A chest computed tomography (CT) scan performed at the first visit showed multiple bilateral nodules with cavitation and surrounding ground-glass opacities especially in the left upper lobe and the right lower lobe (arrows, Figure 1A-B), and areas of consolidation with necrotizing cavities in the right lower lobe (arrowheads, Figure 1B).
A bronchoscopy was performed for microbiologic evaluation. Nucleic acid amplification test (NAAT) was positive for Mycobacterium tuberculosis but not confirmed in culture due to insufficient sample size. A mycobacterial dedicated four-drug regimen was prescribed.
Four months later, the patient presented with an unprovoked bilateral pulmonary embolism. On the chest CT scan, the bilateral cavitary pneumonia had worsened with enlargement of cavitary nodules to confluent consolidation areas with necrotizing cavities in the left upper lobe (arrowheads, Figure 2A) and the appearance of multiples centrilobular nodules in the right upper lobe suggesting bronchogenic spread (Figure 2A). There was also enlargement of the necrotizing right lower lobe consolidations (star, Figure 2B), and the occurrence of cavitating nodules (arrows, Figure 2B) and necrotizing lung consolidations (arrowheads, Figure 2B) in the middle lobe, left lower lobe, and the lingula.
The anti-tuberculosis regimen was withheld. New bacteriological samples were obtained. NAAT was negative for Mycobacterium tuberculosis, as well as the mycobacterial culture. Biological autoimmune disease screening was negative. Given the progression, surgical lung biopsies were performed on the right lung. They showed a malignant epithelial proliferation characterized by papillary glandular structures, consistent with the diagnosis of lung adenocarcinoma. There was no mediastinal lymph node invasion nor distant metastasis. The patient then underwent standard of care systemic treatment combining chemotherapy and immunotherapy in first line setting.
|
computed tomography, lung adenocarcinoma, lung cavities, pneumonia, thoracic imaging
| Not supported with pagination yet
| null |
PMC3002010_01
|
Male
| 0
|
A 7-month-old male child was admitted under the paediatric service with 2 months history of recurrent fever not associated with rigors. The patient had similar complaints 4 months ago and was treated for upper respiratory infection. There was history of tuberculosis in the family. Clinical examination showed evidence of hepatosplenomegaly. Laboratory parameters including haematology, serum electrolytes, blood cultures, liver function tests, and chest x-ray were unremarkable except for high white cell count. The patient was evaluated and treated with IV antibiotics. However, fever persisted and an ultrasound abdomen scan revealed multiple splenic abscesses. Patient's parents were counselled and a SILS splenectomy was planned.
A surgery was carried out under general anaesthesia. Patient was placed in left upward tilt to 30 [Figure 1]. Open access transumbilical Single-incision of 3 cm was used for placement of three ports (2 x 5 mm, 1 x 10 mm) [Figure 2]. Conventional laparoscopic instruments were used [Figure 3]. The spleen was found plastered to the parietal wall with the hilum exposed, making it convenient to proceed. Splenic attachments were mobilised using harmonic scalpel and hilum was secured with Ligasure (CovidienNorwalk, CT, USA). Two splenenculi were noted and consciously preserved. Splenectomy was done and the specimen retrieved in toto through the same single-incision and sent for histopathological examination. Cavity was reinspected and haemostasis confirmed. No drain was placed. The rectus sheath was closed with 2-0 polypropylene. The incision was closed with absorbable subcuticular suture [Figure 4]. The histopathology report showed granulomatous infection [Figure 5]. Patient continued to have postoperative fever for 3 days requiring antibiotics and antipyretics and the symptoms improved. The patient was administered pneumococcal vaccine and started on antitubercular treatment as per paediatrician's recommendation. The patient was discharged on the fourth postoperative day. Postoperative follow-up at 2 weeks did not reveal any umbilical wound complication.
|
single-incision laparoscopic surgery, splenectomy
| Not supported with pagination yet
| null |
PMC8040071_01
|
Female
| 65
|
A 65-year-old Asian woman was admitted to our clinic in August 2019 due to fever (38.3-39 C), chest tightness, cough producing sputum, and shortness of breath for one day. Her clinical history could be defined by long-term leukopenia. She was diagnosed with MDS in 2014, after which she received supportive treatments. In 2019, she was admitted to the hospital with increased bone marrow blasts (10% vs 4%) and decreased megakaryocytes with small round separated nuclei (Figure 1A-E, Table 1). She received four courses of amifostine, but her symptoms did not improve. During hospitalization, she was infected with recurrent pneumonia, which could be relieved by multiple antibiotic treatments (Figure 2A and B). She received voriconazole after the last course in July 2019. Two months later, the symptoms of fever and pneumonia re-appeared again (Figure 2C).
On admission, she presented with fever and chest pain, and blood cell count at that time revealed lymphocytopenia and monocytopenia. The blood routine test showed a white blood cell (WBC) count of 1800 cells/mm3, a low monocyte count of 0-0.1 cells/mm3; a hemoglobin level of 7.6 g/dL; and a platelet count of 17 x 109/L. The absolute count of B cell (CD19+) was 6x106/L (50-670x106), NK cell (CD3-/CD16+56+) count was 34x106/L(40-1000x106/L). The CD4+ T-cell count was 141 cells/mm3 and the CD4/CD8 ratio was 0.99. She also had splenomegaly (4.1 cm in size) and iron overload (ferritin: 2361.4ng/mL). The results of Epstein-Barr virus (EBV)-DNA and cytomegalovirus (CMV)-DNA were negative. Next, the patient was treated with tigecycline, ceftazidime, and voriconazole according to the manifestation of lung computed tomography (CT) scan (Figure 2D). Furthermore, Klebsiella pneumoniae infection was confirmed by sputum culture analysis, after which she received therapy with caspofungin, posaconazole, cefoperazone, linezolid, ganciclovir, sulfamethoxazole, amphotericin B, and polymyxin subsequently. However, no significant improvement was observed with reference to fever and pneumonia. During this time, she developed chest tightness and dyspnea which required continuous high-flow oxygen inhalation. She was not able to undergo a bronchoscopy. Complicated with severe infection, the patient also developed acute heart failure. Eventually, we sequenced the patient's peripheral blood specimens despite her repeated negative sputum culture, after which the M. kansasii infection was confirmed. Consequently, she was given antibiotic therapy, consisting of ethambutol, rifabutin, and clarithromycin as recommended. Her situation significantly improved within 2 weeks of therapy (without fever). C-reactive protein (CRP) level remarkably decreased from 250.87 mg/L to an almost normal level. According to the above-mentioned signs and symptoms, the patient was suspected of having MonoMAC syndrome. The next-generation sequencing (NGS, peripheral blood) found a heterozygous mutation in GATA2 (exon6:c.1126_1128del:p.K376del) along with U2AF1 (exon2:c.C101T:p.S34F), SETBP1 (exon4, cG2602A:pD868N, exon4:cG2608A:pG870S), ASXL1 (exon12:c.G2548T:p.E850X) as well as KMT2D, BRAF, EPPK1, and ETV6. Her son was further confirmed with the same GATA2 mutation with oral mucosal specimen. Unfortunately, the patient died of carbapenem-resistant Klebsiella pneumoniae bloodstream infection on October 2019, 41 days after the MonoMAC diagnosing.
|
gata-2 germline mutation, m kansasii, monomac, monocytopenia and mycobacterial infection syndrome, next-generation sequencing, nontuberculous mycobacteria
|
Computed tomography (CT) manifestation of recurrent pulmonary infection. The recurrent pneumonia was observed during the hospitalization.
|
|
PMC8040071_01
|
Female
| 65
|
A 65-year-old Asian woman was admitted to our clinic in August 2019 due to fever (38.3-39 C), chest tightness, cough producing sputum, and shortness of breath for one day. Her clinical history could be defined by long-term leukopenia. She was diagnosed with MDS in 2014, after which she received supportive treatments. In 2019, she was admitted to the hospital with increased bone marrow blasts (10% vs 4%) and decreased megakaryocytes with small round separated nuclei (Figure 1A-E, Table 1). She received four courses of amifostine, but her symptoms did not improve. During hospitalization, she was infected with recurrent pneumonia, which could be relieved by multiple antibiotic treatments (Figure 2A and B). She received voriconazole after the last course in July 2019. Two months later, the symptoms of fever and pneumonia re-appeared again (Figure 2C).
On admission, she presented with fever and chest pain, and blood cell count at that time revealed lymphocytopenia and monocytopenia. The blood routine test showed a white blood cell (WBC) count of 1800 cells/mm3, a low monocyte count of 0-0.1 cells/mm3; a hemoglobin level of 7.6 g/dL; and a platelet count of 17 x 109/L. The absolute count of B cell (CD19+) was 6x106/L (50-670x106), NK cell (CD3-/CD16+56+) count was 34x106/L(40-1000x106/L). The CD4+ T-cell count was 141 cells/mm3 and the CD4/CD8 ratio was 0.99. She also had splenomegaly (4.1 cm in size) and iron overload (ferritin: 2361.4ng/mL). The results of Epstein-Barr virus (EBV)-DNA and cytomegalovirus (CMV)-DNA were negative. Next, the patient was treated with tigecycline, ceftazidime, and voriconazole according to the manifestation of lung computed tomography (CT) scan (Figure 2D). Furthermore, Klebsiella pneumoniae infection was confirmed by sputum culture analysis, after which she received therapy with caspofungin, posaconazole, cefoperazone, linezolid, ganciclovir, sulfamethoxazole, amphotericin B, and polymyxin subsequently. However, no significant improvement was observed with reference to fever and pneumonia. During this time, she developed chest tightness and dyspnea which required continuous high-flow oxygen inhalation. She was not able to undergo a bronchoscopy. Complicated with severe infection, the patient also developed acute heart failure. Eventually, we sequenced the patient's peripheral blood specimens despite her repeated negative sputum culture, after which the M. kansasii infection was confirmed. Consequently, she was given antibiotic therapy, consisting of ethambutol, rifabutin, and clarithromycin as recommended. Her situation significantly improved within 2 weeks of therapy (without fever). C-reactive protein (CRP) level remarkably decreased from 250.87 mg/L to an almost normal level. According to the above-mentioned signs and symptoms, the patient was suspected of having MonoMAC syndrome. The next-generation sequencing (NGS, peripheral blood) found a heterozygous mutation in GATA2 (exon6:c.1126_1128del:p.K376del) along with U2AF1 (exon2:c.C101T:p.S34F), SETBP1 (exon4, cG2602A:pD868N, exon4:cG2608A:pG870S), ASXL1 (exon12:c.G2548T:p.E850X) as well as KMT2D, BRAF, EPPK1, and ETV6. Her son was further confirmed with the same GATA2 mutation with oral mucosal specimen. Unfortunately, the patient died of carbapenem-resistant Klebsiella pneumoniae bloodstream infection on October 2019, 41 days after the MonoMAC diagnosing.
|
gata-2 germline mutation, m kansasii, monomac, monocytopenia and mycobacterial infection syndrome, next-generation sequencing, nontuberculous mycobacteria
|
Computed tomography (CT) manifestation of recurrent pulmonary infection.could be relieved by multiple antibiotic treatments.
|
|
PMC8040071_01
|
Female
| 65
|
A 65-year-old Asian woman was admitted to our clinic in August 2019 due to fever (38.3-39 C), chest tightness, cough producing sputum, and shortness of breath for one day. Her clinical history could be defined by long-term leukopenia. She was diagnosed with MDS in 2014, after which she received supportive treatments. In 2019, she was admitted to the hospital with increased bone marrow blasts (10% vs 4%) and decreased megakaryocytes with small round separated nuclei (Figure 1A-E, Table 1). She received four courses of amifostine, but her symptoms did not improve. During hospitalization, she was infected with recurrent pneumonia, which could be relieved by multiple antibiotic treatments (Figure 2A and B). She received voriconazole after the last course in July 2019. Two months later, the symptoms of fever and pneumonia re-appeared again (Figure 2C).
On admission, she presented with fever and chest pain, and blood cell count at that time revealed lymphocytopenia and monocytopenia. The blood routine test showed a white blood cell (WBC) count of 1800 cells/mm3, a low monocyte count of 0-0.1 cells/mm3; a hemoglobin level of 7.6 g/dL; and a platelet count of 17 x 109/L. The absolute count of B cell (CD19+) was 6x106/L (50-670x106), NK cell (CD3-/CD16+56+) count was 34x106/L(40-1000x106/L). The CD4+ T-cell count was 141 cells/mm3 and the CD4/CD8 ratio was 0.99. She also had splenomegaly (4.1 cm in size) and iron overload (ferritin: 2361.4ng/mL). The results of Epstein-Barr virus (EBV)-DNA and cytomegalovirus (CMV)-DNA were negative. Next, the patient was treated with tigecycline, ceftazidime, and voriconazole according to the manifestation of lung computed tomography (CT) scan (Figure 2D). Furthermore, Klebsiella pneumoniae infection was confirmed by sputum culture analysis, after which she received therapy with caspofungin, posaconazole, cefoperazone, linezolid, ganciclovir, sulfamethoxazole, amphotericin B, and polymyxin subsequently. However, no significant improvement was observed with reference to fever and pneumonia. During this time, she developed chest tightness and dyspnea which required continuous high-flow oxygen inhalation. She was not able to undergo a bronchoscopy. Complicated with severe infection, the patient also developed acute heart failure. Eventually, we sequenced the patient's peripheral blood specimens despite her repeated negative sputum culture, after which the M. kansasii infection was confirmed. Consequently, she was given antibiotic therapy, consisting of ethambutol, rifabutin, and clarithromycin as recommended. Her situation significantly improved within 2 weeks of therapy (without fever). C-reactive protein (CRP) level remarkably decreased from 250.87 mg/L to an almost normal level. According to the above-mentioned signs and symptoms, the patient was suspected of having MonoMAC syndrome. The next-generation sequencing (NGS, peripheral blood) found a heterozygous mutation in GATA2 (exon6:c.1126_1128del:p.K376del) along with U2AF1 (exon2:c.C101T:p.S34F), SETBP1 (exon4, cG2602A:pD868N, exon4:cG2608A:pG870S), ASXL1 (exon12:c.G2548T:p.E850X) as well as KMT2D, BRAF, EPPK1, and ETV6. Her son was further confirmed with the same GATA2 mutation with oral mucosal specimen. Unfortunately, the patient died of carbapenem-resistant Klebsiella pneumoniae bloodstream infection on October 2019, 41 days after the MonoMAC diagnosing.
|
gata-2 germline mutation, m kansasii, monomac, monocytopenia and mycobacterial infection syndrome, next-generation sequencing, nontuberculous mycobacteria
|
Computed tomography (CT) manifestation of recurrent pulmonary infection.
|
|
PMC8040071_01
|
Female
| 65
|
A 65-year-old Asian woman was admitted to our clinic in August 2019 due to fever (38.3-39 C), chest tightness, cough producing sputum, and shortness of breath for one day. Her clinical history could be defined by long-term leukopenia. She was diagnosed with MDS in 2014, after which she received supportive treatments. In 2019, she was admitted to the hospital with increased bone marrow blasts (10% vs 4%) and decreased megakaryocytes with small round separated nuclei (Figure 1A-E, Table 1). She received four courses of amifostine, but her symptoms did not improve. During hospitalization, she was infected with recurrent pneumonia, which could be relieved by multiple antibiotic treatments (Figure 2A and B). She received voriconazole after the last course in July 2019. Two months later, the symptoms of fever and pneumonia re-appeared again (Figure 2C).
On admission, she presented with fever and chest pain, and blood cell count at that time revealed lymphocytopenia and monocytopenia. The blood routine test showed a white blood cell (WBC) count of 1800 cells/mm3, a low monocyte count of 0-0.1 cells/mm3; a hemoglobin level of 7.6 g/dL; and a platelet count of 17 x 109/L. The absolute count of B cell (CD19+) was 6x106/L (50-670x106), NK cell (CD3-/CD16+56+) count was 34x106/L(40-1000x106/L). The CD4+ T-cell count was 141 cells/mm3 and the CD4/CD8 ratio was 0.99. She also had splenomegaly (4.1 cm in size) and iron overload (ferritin: 2361.4ng/mL). The results of Epstein-Barr virus (EBV)-DNA and cytomegalovirus (CMV)-DNA were negative. Next, the patient was treated with tigecycline, ceftazidime, and voriconazole according to the manifestation of lung computed tomography (CT) scan (Figure 2D). Furthermore, Klebsiella pneumoniae infection was confirmed by sputum culture analysis, after which she received therapy with caspofungin, posaconazole, cefoperazone, linezolid, ganciclovir, sulfamethoxazole, amphotericin B, and polymyxin subsequently. However, no significant improvement was observed with reference to fever and pneumonia. During this time, she developed chest tightness and dyspnea which required continuous high-flow oxygen inhalation. She was not able to undergo a bronchoscopy. Complicated with severe infection, the patient also developed acute heart failure. Eventually, we sequenced the patient's peripheral blood specimens despite her repeated negative sputum culture, after which the M. kansasii infection was confirmed. Consequently, she was given antibiotic therapy, consisting of ethambutol, rifabutin, and clarithromycin as recommended. Her situation significantly improved within 2 weeks of therapy (without fever). C-reactive protein (CRP) level remarkably decreased from 250.87 mg/L to an almost normal level. According to the above-mentioned signs and symptoms, the patient was suspected of having MonoMAC syndrome. The next-generation sequencing (NGS, peripheral blood) found a heterozygous mutation in GATA2 (exon6:c.1126_1128del:p.K376del) along with U2AF1 (exon2:c.C101T:p.S34F), SETBP1 (exon4, cG2602A:pD868N, exon4:cG2608A:pG870S), ASXL1 (exon12:c.G2548T:p.E850X) as well as KMT2D, BRAF, EPPK1, and ETV6. Her son was further confirmed with the same GATA2 mutation with oral mucosal specimen. Unfortunately, the patient died of carbapenem-resistant Klebsiella pneumoniae bloodstream infection on October 2019, 41 days after the MonoMAC diagnosing.
|
gata-2 germline mutation, m kansasii, monomac, monocytopenia and mycobacterial infection syndrome, next-generation sequencing, nontuberculous mycobacteria
|
Computed tomography (CT) manifestation of recurrent pulmonary infection. showed exacerbation of infection before the detection of mycobacterium kansasii (with air bronchogram and pulmonary consolidation), and the situation did not get improved after multiple treatments.
|
|
PMC4427828_01
|
Male
| 51
|
A 51-year-old Chinese man came to our hospital complaining of weight loss of 4 kg, finger tremors, sweating, and palpitations for 1 month in May 2013. Physical examination showed that his thyroid gland was slightly enlarged and tender. No other clinically relevant physical findings were recorded. His thyroid function was presented as increased free thyroxine (FT4), free triiodothyronine (FT3) along with low thyroid-stimulating hormone (TSH). At that time, his blood count, liver function test, erythrocyte sedimentation rate, and C-reactive protein were within the normal range. A thyroid scan using 99mTcO4 - revealed diffuse increased uptake in the thyroid area and ultrasound showing increased color Doppler flow was in the symmetrically enlarged thyroid. He was diagnosed as having hyperthyroidism due to Graves' disease and started treatment with MMI (10 mg twice daily) and propranolol (10 mg thrice daily). Four weeks after taking these drugs, he had a sore throat with high fever (40.0 C), skin rash, cholestatic symptoms including dark urine, pruritus, and jaundice. He went to the hospital and got laboratory analyses. The results showed total WBCs 1.1 x 109/L with no neutrophils, total serum bilirubin (TB) 385 mumol/L, conjugated bilirubin (DB) 299 mumol/L, alanine aminotransferase (ALT) 89 U/L, aspartate aminotransferase (AST) 30 U/L, prothrombin time (PT) 17 s, FT4 37.1 ng/dL, FT3 5.61 pg/mL, and TSH 0.001 mulU/mL. He was recommended to stop MMI immediately. Further examination results were as follows: his electrocardiogram and ultrasonic cardiogram were normal; abdominal ultrasonograph showed no evidence of biliary dilatation or gallbladder disease; chest X-ray showed no abnormalities. He was negative for antinuclear antibody, anti-smooth-muscle antibody, antineutrophil cytoplasm antibodies, and hepatitis A, B, C, and E. He has no history of alcohol addiction, smoking, additional drug, blood transfusion, or recent overseas travel. So we considered this to be a diagnosis of MMI-induced severe cholestatic hepatotoxicity with agranulocytosis. Initial management included cessation of MMI, empiric antibiotic treatment (IV Sulperazone, oral levofloxacin) and hepatoprotective treatment (IV atomolam and glycyrrhizinate). By day 5, the patient was afebrile. At the 2nd week, his granulocytes count had risen to 3.1 x 109/L, his liver function tests were all improving, and TB had fallen to 158 mumol/L. Three weeks after MMI stopped, 296 MBq dose of 131I was given. Five weeks later, the values of liver function decreased to normal. His symptoms of hyperthyroidism were improved in the 3rd month after 131I treatment and his thyroid function remained at normal levels in the 6th month. During the course of the patient, changes in his thyroid function, liver function, and blood counts are shown in Table 1.
| null | Not supported with pagination yet
| null |
PMC8546181_02
|
Female
| 14
|
PA-5 was a 14-year old girl, she was referred to our clinic for genetic evaluation, because of her abnormality of the dentition and premature loss of primary teeth. She has an elder sister with similar symptoms. Biochemical examination showed that the activity of ALP was significantly decreased to 9 u/L. Medical imaging examination showed carious teeth, alveolar bone loss around teeth, shortened dental roots, taurodontia and abnormality of the mandible (Figures 1E-E2).
Whole exome sequencing using the genomic DNA of the proband was performed in total and >18.1G clean data were generated covering 95.5% of exome target regions at least 20X. The detailed sequencing data of the variants are presented in Table 1. Based on the TGex Software (LifeMap Sciences, United States), we found variants existed in OMIM genes whose functions matched with known phenotypes. After PCR amplification, Sanger sequencing was used to identify variations. Genealogy and sequencing results are shown in Figure 2. We finally identified the cause of the disease in the five patients (PA-1: c.649_650insC and c.707A > G; PA2: c.98C > T and c.707A > G; PA3: c.407G > A and c.650delTinsCTAA; PA4: c.1247G > T (homozygous); PA5: c.406C > T and c.1178A > G; NM_000478.5), as shown in Table 2. The five patients had eight variants. Both c.1247G > T/p.Gly416Val, c.1178A > G/p.Asn393Ser and c.707A > G/p.Tyr236Cys were not presented in population and disease databases including gnomAD(https://gnomad.broadinstitute.org/), the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/), the ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and LOVD (http://www.LOVD.nl/LTBP-4). All of these were novel variants.
CLUSTAL W was used for conservative analysis of three variations (Figure 3A). Using this method, it was found that c.1247G > T/p.Gly416Val; c.1178A > G/p.Asn393Ser and c.707A > G/p.Tyr236Cys were conservative substitutions. At the same time, we predicted the impact of c.1247G > T/p.Gly416Val, c.1178A > G/p.Asn393Ser and c.707A > G/p.Tyr236Cys with four in-silico tools: SIFT, Provean, Mutation Taster, and CADD (Figure 3F). Predictive software suggested that c.1247G > T/p.Gly416Val and c.707A > G/p.Tyr236Cys were harmful variations, while for c.1178A > G/p.Asn393Ser, only Mutation Taster and CADD supported the possibility that this variation was harmful. The c.1247G > T/p.Gly416Val was assessed to be likely pathogenic (PM1, PM2, PM3, PP3, and PP4), c.707A > G/p.Tyr236Cys was assessed to be likely pathogenic (PM1, PM2, PM3, PP3, and PP4) and c.1178A > G/p.Asn393Ser was assessed to be likely pathogenic (PM1, PM2, PM3, PM5, and PP4) by the ACMG/AMP guidelines. In combination with the clinical manifestations of the patients and the results of the pathogenicity assessment of the variants, we finally diagnosed that these five patients were hypophosphatasia.
|
alpl gene, tnsalp, abnormal bone ossification, hypophosphatasia, whole-exome sequencing
| Not supported with pagination yet
| null |
PMC3862140_01
|
Male
| 82
|
This is an 82-year-old male with past medical history of hypertension, hyperlipedemia, gastresophageal reflux disease (GERD) and coronary artery disease. Patient presented with an eight month history of dysphagia for both liquid and solid food associated with regurgitation of a foamy like material at night. Patient limited his oral intake due to these symptoms and reported a 10 lb weight loss over the last eight months. Patient was treated for many years for GERD with proton pump inhibitors (PPI). Even after the dysphagia began the PPIs were continued but were ineffective. Patient then underwent an Esophagogastroduodenoscopy (EGD) which showed a dilated esophagus and some evidence of reflux esophagitis.
Achalasia was suspected so patient underwent an esophageal manometry study which confirmed the diagnosis of achalasia with an aperistaltic esophageal body and non relaxing lower esophageal sphincter. The patient was scheduled for pneumatic dilatation. An informed consent was obtained; all the risks, benefits and alternatives were discussed with the patient.
Under general anesthesia patient underwent pneumatic esophageal dilatation using a Rigiflex dilator with a 30 mm balloon employed and pressure of 16 PSI Endoscopy immediately after the procedure raised the concern of a small tear in the distal esophagus so a gastrografin swallow study was ordered to rule out any perforation. After extubation patient was complaining of mild to moderate epigastric pain but denied any chest pain, fever, cough or shortness of breath. The patient was afebrile and heamodynamically stable. The patient was kept NPO and the gastrografin study was performed which showed a contained perforation in the very distal esophagus just above the gastroesophageal junction level which was projecting about 1-2 cm into the mediastinum but localized with no leaking into the pleural cavity (Figure 1)
The patient was brought back to the endoscopy unit and a fully covered metallic stent was placed in the distal esophagus with a diameter of 23 mm and 10 cm in length. The time between the initial endoscopy and stent placement was approximately 6 hours. Patient was kept NPO and was started on intravenous broad spectrum antibiotic (Piperacillin-Tazobactam 4.5 Gm q8h) and admitted to the hospital to continue medical treatment.
Day 1 post-stenting the patient was complaining of mild nausea and epigastric discomfort; he remained afebrile and had stable vital signs with a small increase in white blood cell count to 14,000. Day 2 post- stenting he improved clinically without significant nausea or abdominal discomfort. A follow up gastrografin swallowing study was performed, which showed the stent in situ with a minute projection of contrast extravasation at the site of the previous perforation with some contrast hold up in the distal esophagus; however the contrast did pass to the stomach (Figure 2). Patient was allowed to start clear fluid diet.
Day 3 post-stenting the patient remained afebrile and heamodynamically stable and leukocytic count had returned to normal. He tolerated fluids well without nausea or vomiting and his diet was advanced to a regular soft. The patient was discharged home with Augmentin 850mg PO BID for 10 days; he was scheduled for an EGD and stent removal after 2 weeks.
When he presented at that time he had no dysphagia and he was eating a regular diet. The EGD was performed and a safe removal of the stent was accomplished. A white healed scar was seen at the area of the perforation.
A follow up gastrografin swallow showed no contrast extravasation and completely healed perforation (Figure 3). Follow up in clinic at one, six and twelve months later confirmed sustained symptom improvement. As far as no dysphagia occasional heartburn was still in the background as it had been for some years before the diagnosis of achalasia.
|
esophageal achalasia, esophageal perforation, esophageal stenting, pneumatic dilation
| Not supported with pagination yet
| null |
PMC6885768_01
|
Female
| 52
|
We report a case of a flecainide-induced cardiogenic shock in a 52-year-old (175 cm, 77 kg) woman with paroxysmal AF. She was previously effectively treated for one year with flecainide (200 mg) as PIP. The medication was well tolerated. Episodes of palpitations every 3-4 weeks disappeared typically after 1-2 hours after taking flecainide. Systolic function was normal in an echocardiography one year before the actual admission. She was otherwise fit and without any other known cardiovascular disease.
She presented one evening to the Emergency Department of a referring hospital with persisting palpitations. The symptoms had started the evening before, and the usual 200 mg flecainide had been ineffective.
Clinical examination showed a fast, irregular heartbeat and was otherwise unremarkable. Blood pressure (BP) was 136/87 mmHg and oxygen saturation (SpO2) is 98% in room air. The electrocardiogram (ECG) showed tachyarrhythmic AF with 158 bpm (Figure 1).
The next day 300 mg flecainide p.o. (the recommended dose for patients with >70 kg) was given, and one hour later, the patient reported malaise and dyspnea, which rapidly worsened and she became tachypneic and severely hypotonic. Echocardiography revealed a severely reduced left ventricular ejection fraction (LVEF) of 30%. The patient was started on i.v. catecholamines and nasal oxygen and was urgently transferred to our center.
Upon arrival, the patient was dyspneic, SpO2 96% with 2 l/min nasal oxygen, responsive and conscious, and BP was 100/48 mmHg under catecholamine support. ECG showed AF (120 bpm). Echocardiography revealed a severely reduced LVEF of only 18%. Chest X-ray showed pleural effusion and increased cardiothoracic ratio (Figure 2(a)).
As electrical cardioversion was unsuccessful, she was started on amiodarone. Bisoprolol was continued at 5 mg/day. Coronary angiography was unremarkable.
Heart rate decreased to around 100 bpm, and over the following 7 hours, catecholamines were fully weaned. Cardiac MRI on the fifth day after admission showed LVEF of 41%, without signs of inflammation or myocardial fibrosis. One day later, she converted into SR. An elective pulmonary vein isolation (PVI) was scheduled, and the patient was discharged with a full cardiovascular recovery (Figure 2(b)). At the time of this report, 4 months after the PVI and 5 months after the admission with cardiogenic shock, the patient negates any symptoms of AF recurrence or heart failure.
| null | Not supported with pagination yet
| null |
PMC10156971_01
|
Female
| 79
|
The patient is a 79-year-old woman admitted to our hospital in mid-August 2022 for "distension and pain in the upper and middle abdomen for 1 week and pancreatic occupancy for 6 days." In fact, the patient could maintain a normal life and take care of herself except for distension and pain in the upper and middle abdomen without any cause, accompanied by nausea and a small amount of vomiting, which were mostly gastric contents. The KPS score of the patient was approximately 80. The aforementioned condition could evidently be aggravated by hunger and was relieved by eating small amounts of food. There was no fever, chills, diarrhea, or black stool. At first, she went to the local hospital to find elevated CA 19-9 levels (details unknown), and abdominal ultrasonography suggested an occupancy in the head of the pancreas. For further diagnosis and treatment, the patient came to our hospital with a diagnosis of pancreatic mass. The patient denied a past history of hypertension, diabetes mellitus, hepatitis, tuberculosis, etc. and denied any history of surgical trauma. The hospital conducted a physical examination as follows: T 36.9 C, R 19 bpm, HR 85 bpm, BP 159/72 mmHg, and pain score 1. The patient was conscious and mentally competent. The skin and sclera were not yellowish and without enlarged superficial lymph nodes, with clear breath sounds in both lungs and uniform heart rhythm without cardiac murmur. The abdomen was flat with normal bowel sounds and negative shifting dullness. The whole abdomen was soft without abnormal masses and pressure pain or rebound pain. There was no edema in both lower extremities, and the pathological features were negative.
The supplementary examination included the blood count: WBC, 6.0*10^9/L; Neo, 3.32*10^9/L; HB, 128 g/L; and Plt, 254*10^9/L.
Blood biochemistry was reported as follows: K, 3.78 mmol/L; ALT, 19 U/L; AST, 17 U/L; AKP, 123 U/L; gammaGGT, 45 U/L; ALB, 42.9 g/L; TBIL, 6.3 mumol/L; and DBIL, 1.0 mumol/L. Blood glucose was 11.4 mmol/L. Tumor markers included CA 19-9, 69.8 IU/mL; CEA, 1.39 ng/mL; CA 15-3, 10.60 U/mL; CA 125, 14.30 U/mL; and AFP, 1.77 ng/mL. CT scan images of admission (Figure 1) showed occupancy in the pancreas head, which was considered to be cancer, with an involvement of the gastroduodenal artery and the superior mesenteric vein, and a soft tissue mass shadow was observed in the pancreas head, approximately 57*32 mm.
Ultrasound endoscopy showed a well-defined and irregular hypoechoic mass in the pancreatic head with a vascular invasion of approximately 43*29 mm. The preliminary diagnosis was considered pancreatic malignancy (cT3N0M0, stage IIA), which indicated the clinical diagnosis stage. Due to excessive SMV involvement and evaluation of posterior venous unresectable reconstruction, the disease was diagnosed as locally progressive unresectable pancreatic cancer. The current standard first-line treatment for advanced unresectable pancreatic cancer is based on a gemcitabine regimen. However, the patient insistently refused chemotherapy after repeated communication and explanation, and based on its immune regulation mechanism, combining our previous medication experience with the icaritin soft capsule, we tried to recommend lenvatinib and icaritin soft capsule for treatment. To the best of our knowledge, no case study was found to be reported to treat pancreatic cancer until now.
The patient underwent a CT review after 1 month of medication, and although the huge mass did not shrink and significant cystic necrosis was visible inside, in the meantime, the significant spillage of the contrast agent could be observed, suggesting the possibility of bleeding inside a tumor. It was inferred that the disease has been controlled (Figure 2). Since the tumor envelope was still intact, it was considered that the risk of progressive bleeding could be avoided by self-compression to stop the bleeding. Generally speaking, short-term and small amounts of bleeding have limited harm, but it could lead to death with a large amount of bleeding. The patient was discharged after conservative treatment in the hospital.
The patient came to our hospital for the second time due to sudden abdominal pain. The routine blood tests showed WBC, 12.0*109/L; Neo, 9.82*109/L; CRP, 188.5 mg/L; blood amylase, 239 IU/L; and lipase, 231.10 IU/L; all of the aforementioned indicators were elevated. The tumor biomarker of CA 19-9 showed a decrease from 70 IU/mL to 30 IU/mL, and the imaging showed a 52% reduction in tumor size (35*28 mm), a reduction in superior mesenteric vein (SMV) involvement, and significant relief of vascular stenosis. The efficacy of lenvatinib and icaritin soft capsules was evaluated comprehensively and reached PR with significant tumor remission after 2 months (Figure 3). Anti-infective and amylase-lowering symptomatic treatment was given for acute pancreatitis after her admission into the hospital.
On 15 October 2022, the patient was readmitted to the hospital again with sudden onset of abdominal pain for 1 day, and routine blood showed WBC, 14.7*109/L; Neo, 11.98*109/L; CRP, 156.3 mg/L; blood amylase, 211.6 IU/L; and lipase, 224.0 IU/L. CT of the abdomen showed a diffuse inflammatory exudate below the pancreas, suggesting secondary acute pancreatitis (Figure 4). Also, the tumor lesion was approximately 20% smaller than last time and 57.5% smaller overall than before treatment. The vascular involvement was also reduced and the proximal stenosis of SMV was also relieved with a better contour. The patient's condition was regarded to be locally advanced pancreatic cancer as before, and the surgical assessment met the criteria for SMV resection and reconstruction (Figure 4). Therefore, its TNM stage was downgraded from T3N0M0 (stage IIA) before the treatment to T2N0M0 (stage IB) after the treatment, and surgery was recommended as an effective treatment choice. Meanwhile, the patient requested the surgery after another two cycles of medication due to the results being beyond her expectation. The patient was admitted to the hospital only for an anti-infective symptomatic treatment of secondary acute pancreatitis.
Unfortunately, the patient stopped taking these two drugs for financial reasons and was re-examined 1 month later, which showed an increase of 1 cm in the active component of the primary pancreatic lesion (original necrotic part), an increment of 2 cm in the tumor located in the pancreatic hook, and multiple metastases in the hepatoduodenal ligament and the hepatogastric ligament based on the results of abdominal CT imaging. Also, increased tumor biomarkers, such as CA 19-9 (241.1 U/mL) and ferritin (686.0 ng/mL), on November 3 suggested tumor progression. Later, the patient took Tegio as treatment, and CA 19-9 increased to 501.6 U/mL in December without a CT review (Figure 5). Also, the patient is still alive today.
|
advanced pancreatic cancer, combined treatment, icaritin soft capsules, lenvatinib, tumor downstaging
| Not supported with pagination yet
| null |
PMC5795689_01
|
Female
| 34
|
Index patient, a 34-year-old female, hailing from a middle socioeconomic status, was brought to the clinic with marked behavioral symptoms. History revealed that about 10 days back, she had an abrupt onset of blurring of vision, with tingling sensation on the left half of her body. This subsequently improved within 12 h after being given benzodiazepines. Prominent behavioral changes followed this. She became exceedingly talkative, started repeating the same phrases many times, and would often ask for food after eating. She was unable to remember the particulars of her son like which class he was studying in. Reportedly, she was unaware of date and day, which started improving after about 7 days of onset of her illness. Biological functions were within physiological limit. She was unable to perform her household activities during the period, though she was taking care of her basic personal care under supervision. There was no history of psychoactive substance use. History of past medical or surgical or psychiatric illness revealed hypertension and occasional headache but without any psychiatric illness. Her medication history revealed she was on oral contraceptive pills and antihypertensive. There was no past history of any mental illness. Family history revealed dementia in her paternal grandfather. On physical examination, no focal neurodeficit was observed. She was cooperative toward the examiner, yet appeared anxious, restless and had stereotyped repetition of certain phrases. Speech output was increased in volume, and she was answering the queries of the examiner in an occasional irrelevant manner. No psychotic symptom was elicited. Judgment and insight was maintained. Her hematological and biochemical profile on the day of visit was unremarkable [Table 1]. She was started on divalproex sodium 500 mg at night. Considering her acute onset blurring of vision, a neurological opinion was sought. She was advised for neuroimaging and multiplanar magnetic resonance images of brain through T2-weighted and fluid-attenuated inversion recovery sequences revealed acute nonhemorrhagic infarct in bilateral temporo-occipital region (PCA territory) [Figure 1]. At follow-up after 3 weeks, she was still more talkative and irritable, and there had been occasional aggressive outbursts without any new physical complaints. She was complaining of headache at times and was sleeping less than usual.
|
behavioral, cerebrovascular accident, posterior cerebrar artery, stroke
| Not supported with pagination yet
| null |
PMC8131160_01
|
Male
| 17
|
A 17-year-old male patient was referred from the internal medicine department to the dental surgery unit of University Hospital Farhat Hached, Tunisia. The patient was complaining about recurrent intraoral ulcers, diagnosed with recurrent aphthous stomatitis. He was treated with colchicine for two months without any improvement.
Our patient was afebrile with all vital signs within normal limits, and his medical history was noncontributory.
Extraoral examination at this point revealed nonspecific 3 to 4 purplish red cutaneous lesions on the forearms. Only some itching was reported. However, intraoral examination revealed diffuse and painful irregular erythematous lesions and postbullous ulcerations on the palate (Figure 1) and all buccal mucosae. Moreover, poor oral hygiene was noticed as the patient was unable to brush his teeth regularly.
Based on the clinical examination, the diagnosis of recurrent aphthous stomatitis was excluded. Yet a bullous disease was suspected such as bullous pemphigoid, lichen planus, or even a drug reaction related to the use of colchicine. Aimed at confirming our diagnosis, a histological exam with a biopsy in the left buccal mucosa was performed.
The patient was told to stop all medications and start using corticosteroids: Solupred (20 mg) 1 tablet *3 per day for 20 days and a topical steroid for the cutaneous lesions in order to relieve him and enable him to eat and speak conveniently.
One week later, the patient showed a clear improvement of mucosal lesions as well as pain relief. The histopathological analysis showed a prominent dermal inflammatory reaction with vasodilation and oedema. A dermal inflammatory infiltrate consisting of lymphocytes and histiocytes was identified as well as some necrotic epidermal cells (Figure 2). Thus, the diagnosis of erythema multiforme was retained.
Unfortunately, one month later, the patient reported complaints about more severe postbullous lesions on buccal, gingival, and labial mucosae (Figure 3). The lesions were diffuse, multiple, irregularly mixed, red and white, surrounded by erythematous margins, and covered with white slough in addition to postvesicular heme-crusted polycyclic erosions of vermillion lips and philtrum.
Furthermore, numerous targetoid erythematous lesions over the back of hands, fingers, arms, and back were noticed (Figure 4).
Considering the presence of a herpes lesion and the recurrence in a short period of time, a correlation between herpes simplex infection and erythema multiforme was suspected. Therefore, serology tests were indicated. The patient was negative for human immunodeficiency virus (HIV) while positive for herpes simplex virus (HSV) pinpointing a chronic infection (IgM: negative; IgG: positive).
Clinical evidences, positive serology tests, and pathological findings were in accordance with diagnostic features of HAEM.
The patient was treated with prednisolone 60 mg a day for 10 days, antiseptic, analgesic, and anesthetic mouthwash, topical steroid ointment, and valaciclovir 500 mg a day for 6 months to prevent the recurrence.
The patient when recalled after 2 months showed marked improvement in his condition with no signs of recurrence.
| null | Not supported with pagination yet
| null |
PMC3568019_01
|
Male
| 26
|
A 26-year-old man with no subjective symptoms was referred to our hospital because of a chest radiographic abnormality in the right hemithorax on his chest X-ray (Figure 1A), which was incidentally found during a college health examination. Chest CT revealed diffuse nodular thickening of the right pleura, without distinct pleural effusion and parenchymal lung lesions, mimicking malignant mesothelioma. An initial FDG PET/CT scan demonstrated multiple lesions of intense FDG uptake in the right pleura (maximal standard uptake value (SUVmax) = 10.9) (Figure 2A and Figure 3A). He had no history of pulmonary or autoimmune disease or occupational exposure to asbestos, silica, or other fibrogenic substances. Since the pleural specimens obtained from CT-guided needle biopsy were insufficient to allow for a definitive diagnosis, the patient was admitted for thoracoscopic biopsy.
On admission, right breath sounds were decreased. Remaining physical examinations revealed no abnormal findings. A full blood cell count, the results of liver and renal function tests, and other data were within normal limits. Thoracoscopic biopsy of the pleural tissue revealed caseous necrosis and granulomatous inflammation (Figure 4), although acid-fast bacilli were not found in biopsy specimens. Cultures of sputum and pleural tissue were also negative. However, the QuantiFERON-TB second generation (QFT-2G) test (3.02 IU/ml) and tuberculin skin test (10 mm induration) were both positive based on the Japanese criteria.
Although no positive culture was obtained, other clinical data suggested that a diagnosis of tuberculous pleurisy was highly likely in this case and the patient received antituberculous therapy for 6 months (2HREZ/4HRE) without any side effects. Just after chemotherapy, a repeated FDG PET/CT scan revealed clearly decreased positive signals (SUVmax = 5.7) with marked improvements in pleural thickening (Figure 2B and Figure 3B). Six months after the completion of chemotherapy, a chest radiograph showed further improvements in pleural based opacities relative to that taken just after chemotherapy (Figure 1B and C).
| null | Not supported with pagination yet
| null |
PMC7292374_01
|
Male
| 13
|
A 13-year-old Indonesian boy who experienced successful living-related renal transplantation (LRRT) in 2017 (his 50-year-old father was his kidney donor) has been living with normal graft function. He underwent hemodialysis (HD) in 2014 after being diagnosed with end-stage renal disease (ESRD) secondary to bilateral renal hypoplasia. He was prepared for LRRT in March 2015; however, two months prior to the procedure he was infected with the hepatitis A virus (HAV). The HAV infection subsequently resolved, and LRRT preparations proceeded. Unfortunately, seven days prior to the scheduled LRRT procedure, there was a sudden significant rise in alanine transaminase (ALT) and aspartate aminotransferase (AST) levels, resulting in cancellation of the procedure. The rise in ALT and AST levels was later revealed to be caused by HCV seroconversion (Figure 1). The patient was always hemodialyzed with a single-use dialyzer, and there was no history of blood transfusions or family history of viral hepatitis; however, there was an HCV outbreak in our pediatric dialysis unit in 2015.
In April 2015, his liver function markers rose (AST 498 U/L, ALT 816 U/L, Gamma-Glutamyltransferase (GGT) 170 U/L) and he was subsequently diagnosed with HCV infection (viral load 3.75 x 105 IU/mL, 5.57 log IU/mL of serum HCV RNA) (Figure 1). HCV RNA genotype testing was conducted using hybridization probe (The Versant HCV Genotype 2.0 Assay (LiPA), Siemens), which revealed HCV genotype 1a. A 7.3-kPa liver stiffness was observed with transient elastography (fibroscan), which was categorized as F1-F2 (mild-moderate liver fibrosis) (Figure 1).
He received interferon-based therapy with ribavirin post-HD once a week since September 2015. Six months after treatment initiation, the HCV was undetected and his liver function normalized. However, 10 months after treatment initiation, he had HCV virological breakthrough, suggested by HCV RNA of 1.28 x 104 IU/mL (4.11 Log IU/mL), leading to cessation of interferon therapy.
Plans for LRRT were continued and HCV treatment was set up to be given a year post LRRT when stable renal graft function was achieved. In September 2017, LRRT was conducted. One year post-LRRT, graft function was normal; thus, treatment with DAAs for chronic HCV infection was commenced. Owing to a lack of evidence regarding treatment safety with DAAs in pediatrics, we arranged a thorough discussion with the Hospital Ethics Committee to obtain parental consent. In December 2018, he began receiving sofosbuvir/daclatasvir for 12 weeks. Evaluation immediately after (March 2019), at 12 weeks (June 2019), and at 24 weeks (October 2019) following treatment cessation showed no HCV recurrence (Figure 1). Adverse effects, such as mild fever, fatigue, musculoskeletal pain, decreased appetite, itching and nasal congestion, were not found during treatment with DAAs.
|
antiviral agents, chronic, hepatitis c, interferon, kidney failure, renal transplantation
| Not supported with pagination yet
| null |
PMC4505782_01
|
Male
| 2
|
A 2-year-old Brazilian white male toddler weighing 11.8kg - previously healthy - presented with vomiting after meals, muscular weakness, generalized pain, abdominal cramps, intestinal constipation and inappetence that had begun 25 days prior to his first examination. There was no relevant information about family history.
He was admitted to the pediatric intensive care unit dehydrated, pallid, referring generalized pain, mainly on legs, arms and in abdomen, and was almost unable to walk. At first, the staff thought it could be sepsis or some endocrinological disorder. However, the initial laboratory tests showed heightened ionic calcium levels in the blood (2.95 mmol/L; normal: 1.11 to 1.40 mmol/L). Other laboratory analyses showed hemoglobin: 9.5 g/mL, white blood cell count: 9,460 cells/mm3, platelet count: 206,000/mm3. Urinalysis showed an elevated leukocyte presence (100 leukocytes/field; normal: < 10/field).
As soon as we received the results of the calcium analysis we submitted the patient to a pelvic X-ray to check calcification status. The X-ray revealed substantial osteolysis ( Figure 1).
We started treatment for hypercalcemia with hydration and low doses of furosemide (1mg/kg/day divided into 3 doses, duration 2 days) in order to raise the calcium excretion by the kidneys . We decided to start pamidronate (0.5mg/kg/day, duration 3 days) - a second-generation bisphosphonate class drug - to stop the osteolysis by the inhibition of calcium resorption . The symptoms of hypercalcemia subsided and the patient improved.
Subsequent laboratory analysis showed that PTH was low at 8 pg/mL (normal: 10 to 65 pg/mL), calcitonin was normal at 8 pg/mL (normal: less than 12 pg/mL) and 1, 25(OH) 2D3 was low at 21 ng/mL (normal: 30 to 60 ng/mL).
A myelogram was performed and was compatible with acute leukemia. The immunophenotype showed the presence of immature T-type cells that expressed intracytoplasmic CD3 antigens, CD7, CD5, CD1a and partial terminal deoxynucleotidyl transferase (TdT). The presence of CD45 at moderately high levels and a lack of CD2 expression in the studied cells were also observed.
The patient underwent chemotherapy based on the standard Berlin-Frankfurt-Munich (BMF) protocol for pediatric ALL. Complete clinical remission occurred after the first cycle of chemotherapy. As a result, calcium levels returned to normal (ionic calcium: 1.2 mmol/L).
Seven months after starting treatment, fever and bacteremia occured, with no associated neutropenia. An infectious disease screen was performed (blood and urine cultures included), and chest x-ray revealed multiple dense nodular structures. A CT scan confirmed structures resembling calcium nodules not exceeding 1 cm in diameter with peribronchovascular distribution, affecting both lungs mainly in the inferior lobes ( Figure 2). Plasma calcium levels (ionized calcium: 1.2 mmol/L) were normal at that time. Tests for fungal infection, and specifically for Aspergillus spp., gave negative results. We also tested for Cryptococcus neoformans (agglutination test), Cytomegalovirus spp. (antigenemia), tuberculosis (three gastric lavages) and respiratory viruses (nasal secretion tests), with all negative results. The patient had no respiratory symtoms or hypoxemia. Despite the negative results, while the search for an infectious agent was ongoing, he received empiric antibiotic therapy, cefepime (150mg/kg/day) and vancomycin (60mg/kg/day) for 10 days, and lipossomal amphotericin B (5mg/kg/day) for 7 days.
The patient was free from infectious or respiratory disorders. Therefore we attributed the nodules observed in the CT images ( Figure 2) to previous hypercalcemia which possibly led to a process of pulmonary alveolar calcification. We did not perform a biopsy, since we saw no benefit to the patient of doing so.
Presently the patient is on maintenance chemotherapy with methotrexate (20mg/m2/once a week) and 6-mercaptopurine (50mg/m2/day) completing 106 weeks of treatment.
|
acute lymphoblastic leukemia, hypercalcemia, osteolytic lesions, paediatric case report, pulmonary alveolar calcification
|
Thorax CT scan: pulmonary alveolar calcification.
|
|
PMC6814328_01
|
Female
| 12
|
She is a 12-year-old female pastoralist who presented to the federal medical Yola with 7 weeks history of well-defined darkening and thickening of the hands, feet, ankles, neck, and the upper trunk region including upper chest and back. She had similar lesions but milder form on lips and periorbital region. The affected area of the skin was said to get exacerbated after exposure or re-exposure to sunlight. The lesions progressively increased in size since 5 weeks with accompanied itching burning sensations following exposure to the sun. She also complaint of recurrent episodes of passage of loose watery stools. As a pastoralist on perpetual travel without school enrolment, it was difficult to access her academic performance. Questions to enquire about changes in her intelligence or cognitive abilities did not reveal remarkable derangement. There are, however, features of dementia like subtle memory change, limited social and thinking abilities, nervousness and apathy. She had sought for medical intervention several times in many peripheral clinics but no significant improvement was noticed. She had no history severe anger, rage, delusions or convulsions. There was no any history of tuberculosis treatment. Her dietary history revealed a persistent intake of corn which the basic meal in the household. Patient was worried and less active as the disease condition worsened.
On examination, a depressed young girl with a well demarcated symmetrical hyper pigmented and thickened burn-like eruptions with erythematous margins covering the neck region and extending on to the upper part of the trunk including the thorax and back are seen. These herperkeratinised and thickened hyperpigmentation lesions also appeared symmetrically over the dorsum of the feet, the ankles, the upper part of the legs, the hands, wrist, arms forearms and milder forms on the lips (Figure 1). She also had koilonychias. Her anthropometric weight and height revealed that she was wasted and stunted for age with less than -2 but greater than -3 WHO Z- score. Based on the history and clinical findings of photosensitive casal necklace and acral dermatitis, a diagnosis of Pellagra was made. Patient could not afford to conduct requested laboratory investigations due to the family social standing. She was then placed on nicotinamide 100 mg with multivitamin supplements. Patient improved rapidly after commencement of medication thus supporting our clinical diagnosis. Dietary advice to consume food rich in niacin which the family can afford such as legumes, fish, vegetables etc were elaborated However, complete follow up of the patient to see her state of full recovery became impossible as the patient left the hospital and did not show for follow up.
|
pellagra, children, conflict, dermatitis, diarrhea, nutrition
| Not supported with pagination yet
| null |
PMC6197673_01
|
Female
| 26
|
AD is a 26 year old female, born and raised in urban Huancayo, capital of the Junin region of the Peruvian Highlands, having a history of intimate contact with dogs that had exposure to meat products from the local market and were witnessed to be consuming animal entrails.
AD began experiencing recurring episodes of spontaneously remitting thoracic spine pain which was 8 or 9 out of 10 in severity, lasting intermittently for 1.5 hours. Routine X-ray demonstrated an RML lesion and a follow-up CAT showed a 4.5 cm x 3.7 cm lobulated mass of low attenuation, pleural-based at the right lateral lung field; referral to outpatient clinic for CAT-guided percutaneous aspiration needle biopsy of the RML lesion previously seen on Chest X-ray (CXR) (see Fig. 1). 20 mL of clear fluid was aspirated and sent for study. Post-procedure, a minimal pleural effusion was noted in the right lung field and there was no evidence of pneumothorax.
AD presented to the ER 5 hours after CT-guided needle aspiration biopsy was performed. AD complained of a 30 minute history of drowsiness, weakness, near syncope, and pleuritic pain at the biopsy site. AD took 2 tablets of Advil, without relief. She experienced an occipito-frontal headache with dizziness and subsequently fell. AD denied having any constitutional symptoms as well as any past history of pneumonia or lung infection and had no chest imaging done prior to her current illness. AD acknowledged an unintentional weight loss of 5 pounds over the past 3 months along with a decreased appetite. AD's PPD and HIV status was negative as of February 2007. On physical exam, temperature was 98.8, pulse was 76, respiration was 18, orthostatic blood pressure was 90/51 increased to 106/51, and pulse ox on room air was 97%. AD was alert, awake and in mildly painful distress. Her skin was warm and dry. On chest exam, breath sounds were decreased over the right base, with dullness to percussion, egophony at the right base and no evidence of wheezes, rales, or rhonchi. Tenderness to palpation was present over biopsy site with no evidence of hematoma. Cardiovascular exam revealed no evidence of irregularity, tachycardia, or gallop. A grade III/VI systolic ejection murmur was present, best heard at the pulmonic area. AD's labs revealed leukocytosis of 11.5. Post-biopsy chest x-ray revealed an ill-defined RML opacity with a small amount of fluid in the minor fissure. Repeat chest CT post-biopsy revealed a 3.5 cm x 3.2 cm septated, air-filled juxta-pleural RML lesion previously filled with fluid. Fluid density suggested the substance was unlikely to be blood. A new small, right non-loculated pleural effusion was noted compared to the previous CT, with no evidence of pneumothorax.
Given the patient's epidemiological characteristics, the clinical setting was felt to be consistent with echinococcal granulosis with a solitary pulmonary lesion, which secondary to needle drainage had now ruptured into the pleural space with resultant signs and symptoms of pleuritis and effusion. Pulmonary and Infectious Disease specialists were consulted; cardiothoracic evaluation was also sought for definitive removal of the tissue in question and long-term albendazole treatment was started as a supportive measure to prevent secondary lesions. Liver function tests, which were obtained to detect liver involvement, were within normal limits and she was ruled out for Tuberculosis with negative PPD and pleural fluid stains. During the course of her hospitalization, she remained afebrile with no aberrations of vital signs to suggest an anaphylactic reaction. She continued to experience pain at the biopsy site that was non-radiating, pleuritic in nature and improved over time with no associated dyspnea. She continued to complain of weakness but denied further episodes of syncope or lightheadedness. Three days after admission, she underwent a right mini-thoracotomy and resection of the RML cyst. 2 chest tubes were also placed for drainage of the pleural effusion. During the procedure she developed cardiovascular collapse most likely from anaphylaxis caused by the cystic fluid. She was treated with IV fluids and methylprednisolone; hypotension subsequently reversed. CXR performed after the procedure revealed a mild right lung atelectasis and effusion and small apical pneumothorax, which were followed to resolution (see Fig. 2, Fig. 5). Both chest tubes were removed by postoperative day (POD) #5. Aside from weakness and slight pain around the chest tube sites, she denied any chest pain, palpitation, dyspnea, fever, nausea or vomiting. With improved pain and respiration and response to appropriate medical treatment, she was discharged on POD #8. She was placed on Albendazole 400 mg twice daily, instructed to continue with incentive spirometry and ambulation. She was instructed to follow-up in the Medicine, Pulmonary and Infectious Disease outpatient clinics (see Fig. 3, Fig. 4, Fig. 6).
Repeat serologic markers became positive for Echinococcus as she continued on Albendazole for an additional 3 months. Follow up CAT scan of chest (see Fig. 5) and Abdominal Ultrasound showed resolution of pleural effusion and no new masses.
| null | Not supported with pagination yet
| null |
PMC6891995_01
|
Male
| 56
|
A male patient aged 56 years attended the outpatient department, presenting with the complaints of no issues since 7 years of married life with the second wife who is 35 years old. However, he has a son from his divorced first wife who is healthy. The patient did not report any problems with erections, orgasm, or ejaculation and he was not taking any medication for any systemic disorders like hypertension, diabetes mellitus etc. On physical examination, testes were in normal position. Rest of the physical examination was normal. Initial history of the female partner suggested regular ovulatory cycles and revealed no problems with her endocrine profile or the patency of her fallopian tubes. There was no history in the patient suggestive of sexually transmitted diseases, mumps, tuberculosis, filariasis, epididymo-orchitis, herniorrhaphy/herniotomy and chronic persistent genital infection, paraparesis and exposure to gonadotoxins, for example, cigarette smoke, alcohol, alkylating agent, gossypol and pesticides. Semen analysis from the laboratory revealed no sperm motility and on viability testing, it was shown that there was 100% necrozoospermia. As the patient could not afford, other investigations such as antisperm antibodies could not be carried out.
Clinical examination revealed no abnormality (physical and systemic). During scrotal examination, temperature was found normal and no scar or swelling was noticed. Position and size of the testes was normal in nature. Epididymis was palpable with swelling, spermatic cord was thickened and prostrate was normal during the examination. Table 1 shows the details of physical examination of the patient.
The patient was assessed based on sexual functional parameters and semen analysis before and three and half months after the treatment. Details of the investigations carried out before and after the treatment are given in Table 2.
According to Ayurveda, the patient was diagnosed as having Vatika Shukra Dosha, with investigations showing evidence of necrozoospermia. He was treated for a period of 3 1/2 months.
Purva Karma like Langhana, Deepana, Pachana and Snehapana were not followed as the patient was not having Ama Lakshana assessed during the examination. So, 50 ml of Eranda Taila (castor oil) was administered at 7.30 AM for the purpose of Koshtha-Shuddhi (purgation) along with warm water, and the patient reported six Vegas (passed stools six times) during that day. He was advised to take light semi-solid diet and avoid exertion for 3 days.
Phala Ghrita 15 ml with milk in the empty stomach once daily
Chandraprabha Vati - 500 mg, Vati one tablet twice daily after food with water
Shilapravang Vati - (250 mg), one Vati twice daily after food with milk
Arogyavardhini Vati - (500 mg), one Vati twice daily after food with water.
Chandraprabha Vati and Arogyavardhini Vati were procured from IMPCL and dispensed through OPD. Phala Ghrita (Arya Vaidya shala, Kottakal) and Shilapravanga (Sri Dhootapeswar Ltd) were prescribed from outside.
All the above medicines were given for 3 months. Arogyavardhini Vati was replaced by Sarivadi Vati after a month and continued for 2 months. No adverse drug reaction was reported during the treatment which was confirmed during follow up visits.
|
necrozoospermia, semen analysis, shukra dosha
| Not supported with pagination yet
| null |
PMC10061007_01
|
Male
| 37
|
A 37-year-old man treated for PanNEN gastrinoma with multiple liver metastases was referred to our Department of Endocrinology in May 2021 due to severe epigastric pain and a suspicion of interstitial lung disease on everolimus therapy.
The patient's medical history included Hashimoto's disease, nephrolithiasis, and chronic gender-affirming hormone treatment with Testosteronum prolongatum 100 mg every 4 weeks i.m. The patient was transgender, and at the age of 28 years, he underwent female-to-male surgery, including breast reduction surgery, hysterectomy, and bilateral salpingo-oophorectomy.
He was diagnosed with gastrinoma in 2020 following 1 year history of heartburn and epigastric pain. In 2019, repeated gastroscopies were performed, revealing recurrent and chronic inflammatory lesions in the esophagus, gastric mucosa, and duodenum. The Helicobacter pylori test was positive, and the infection was treated with no improvement. Additionally, abdominal ultrasound showed numerous lesions described then as presumably hemangiomas of the liver, which were later visualized in computed tomography (CT). He also had a 16-mm tumor of the left adrenal gland, which was first diagnosed in 2018 and verified at that time as a non-functioning adenoma with a benign imaging phenotype in CT [3 Hounsfield Units (HU) in the native phase]. In 2020, a follow-up abdominal CT scan showed a 27 x 34 mm pancreatic uncinate tumor infiltrating the superior mesenteric vein and multiple hypervascular metastases in the liver. There were nearly 30 lesions, which ranged in size from a few millimeters to 40 mm (Figures 1, 1A-D). A percutaneous liver biopsy was performed and immunohistochemical (IHC) staining revealed the following: NET G2, synaptophysin (+++), chromogranin A (+), and CD 56 (-) with a Ki-67 labeling index of 4%-5%. Somatostatin receptor scintigraphy (SRS) ([99mTc] HYNIC-TOC Tektrotyd, Polatom, PL) subsequently confirmed a pathological radiolabel uptake in the pancreatic and liver lesions presented in Figure 2, during initial SRS in June 2020 (Figure 2A). There was no pathological radiotracer accumulation in the left adrenal gland, indicating benign adenoma morphology. Laboratory tests revealed inappropriately increased gastrin levels, confirming the diagnosis of gastrinoma. Considering the advanced disease stage, the patient was disqualified from surgical intervention. He was treated at The Maria Sklodowska-Curie National Research Institute of Oncology Warsaw with somatostatin receptor ligand (SRL, octreotide LAR 30 mg every 4 weeks), and then everolimus (10 mg p.o. per day) was started in February 2021 due to progression in the liver.
At the first admission to our Department in 2021, the chest and abdominal CT scans revealed further disease progression with multiple possible metastases in the lungs and a remarkable change in left adrenal tumor density up to 47 HU in the native phase and in size of up to 24 x 18 mm, arousing suspicion of adrenal metastasis (Figures 1, 2A-D). His laboratory tests showed highly elevated gastrin and chromogranin A levels during proton pump inhibitor (PPI) and famotidine treatment, elevated PTH level, normocalcemia, and normophosphatemia with vitamin D deficiency. However, genetic testing for MEN1 syndrome, which was performed earlier, was negative. PTH levels normalized after vitamin D deficiency treatment.
Everolimus treatment was discontinued as its adverse effect in the form of nonspecific interstitial pneumonia was suspected. Later imaging studies ruled out lung metastatic lesions.
One month later, the patient was readmitted to our Department due to a sudden onset of severe hypercortisolemia, leading to severe hypokalemia (Table 1; Figure 3), increased peripheral edema, and hypertension. He presented some features of Cushing phenotype with easy bruising, weight gain, and severe psychotic symptoms and memory impairment. Hormonal results confirmed the diagnosis of ACTH-dependent Cushing syndrome most likely due to ectopic ACTH or CRH secretion by PanNEN. Head and pituitary magnetic resonance imaging (MRI) excluded the presence of brain metastases and a pituitary adenoma. Metyrapone treatment in a dose up to 2 g per day and pasireotide s.c. 600 mug bid were promptly initiated together with potassium supplementation, spironolactone, and hyperglycemia treatment, which resulted in significant clinical and biochemical improvement (Table 1; Figure 3). We considered osilodrostat treatment, but it was not available at the time. The patient qualified for bilateral adrenalectomy to treat hypercortisolemia permanently, as the primary PanNEN was inoperable. He underwent surgery after achieving stabilization of his clinical condition. However, due to intraoperative conditions (significantly enlarged liver), the patient underwent left-sided adrenalectomy only. A pathological report revealed an adenoma of the adrenal cortex: chromogranin A (-), inhibin (+), melanin A (+), and a Ki-67 labeling index of 3%-4%, with positive staining for ACTH (+). Liver lesion samples, which were also taken intraoperatively, showed NET G2 with synaptophysin (+++), ACTH (+), and a Ki-67 labeling index of 7%-8%. After adrenalectomy, hormonal results revealed a significant decrease in ACTH level, normal morning cortisol levels, and 24-h free urinary cortisol excretion, and a further increase in gastrin concentration (Table 1; Figure 3). Owing to the progression of liver metastatic lesions described in the abdominal CT and SRS and increasing gastrin and CgA levels, the patient qualified for temozolomide and capecitabine chemotherapy (with standard dosing capecitabine 750 mg/m2 bid on days 1-14 and temozolomide 150 mg/m2 p.o. on days 10-14), while continuing SRL therapy, with a good initial response in the form of a decrease in the mass of metastases and gastrin level. However, chemotherapy with temozolomide and capecitabine was discontinued after the fourth course due to recurrent severe pancytopenia with life-threatening anemia requiring multiple blood transfusions. During a follow-up hospitalization, laboratory results confirmed prolonged normalization of ACTH and cortisol levels (Table 1; Figure 3). 18F-fluorodeoxyglucose PET-CT imaging ruled out the presence of metastases in the lungs and confirmed the metabolically active process located in the pancreatic head and in the liver.
In the latest CT performed in August 2022, 9 months after the end of temozolomide and capecitabine chemotherapy, the disease was stable, without further progression in terms of intensity, number, and size of metastases, and even with some of the hepatic metastases shrinking (Figure 1).
Currently, 1 year after adrenalectomy, we found stable, slightly elevated levels of morning ACTH, normal cortisol with maintained diurnal rhythm, 24-h free urinary cortisol excretion in the upper limit of normal, testosterone concentration within the male range, and elevated but stable gastrin and chromogranin A levels (Table 1; Figure 3). The patient showed declining ZES symptoms during PPI treatment.
|
adrenal adenoma, ectopic cushing syndrome, gastrinoma, pancreatic neuroendocrine neoplasm, transgender
| Not supported with pagination yet
| null |
PMC4681871_02
|
Male
| 0
|
A healthy 29-month-old boy presented with 1-week history of bizarre psychiatric symptoms that progressed to behavioral aggression, insomnia, and disuse of the left upper extremity that were thought to be seizures.
He had episodic outbursts of excessive, inconsolable crying and distress that were described "as though he was having nightmares while awake". He had delayed sleep onset from his baseline, decreased appetite, decreased activity level, and emesis. Subsequently, he had dysarthria with progressively decreasing verbal output to the point of mutism with preserved comprehension.
Cranial nerves, muscle bulk and strength, and reflexes were normal. His tone was episodically increased in the left upper extremity with prominent intermittent dystonia and positive Babinski response on left plantar stimulation. Sensory exam was normal to pin prick and vibration. Gait was initially normal but progressively worsened to significant ataxia and frequent falls when trying to stand or ambulate unassisted.
Past history was significant for streptococcal-negative pharyngitis and a motor vehicle accident. The accident occurred at age 19 months when he sustained a pneumothorax that fully recovered. His development was normal, described as an independent, mild-mannered and active toddler. Pregnancy, birth, and family histories were unremarkable.
Because of suspicion of seizures and status epilepticus, an urgent EEG was obtained that captured movements and showed them to be nonepileptic seizure mimics consisting of unilateral extremity quasi-rhythmic movements, and AEDs were withheld.
Cerebrospinal fluid analysis showed 8 WBC and 450 red blood cells without xanthochromia. Cerebrospinal fluid protein was 26 mg/dL, and cerebrospinal lactate and glucose were normal. Cerebrospinal fluid herpes and enterovirus amplifications were negative. Blood counts, chemistries, and urine drug screen were unremarkable. Antistreptolysin O, antinuclear antibody, lupus anticoagulant, cytoplasmic-antineutrophil cytoplasmic antibodies, perinuclear-antineutrophil cytoplasmic antibodies, and antiphospholipid antibody titers, thyroid function studies, creatine kinase, lactic acid, and serum ammonia were normal as were serum amino and urine organic acids, carnitine, and acylcarnitine. Cerebral MRI, EEG, echocardiography, and abdominal ultrasound were normal.
Given his progressive neurological deterioration as well as prominent motor and psychiatric manifestations, an empiric diagnosis of autoimmune-mediated encephalitis was made (and confirmed two weeks later). An empiric trial of intravenous immunoglobulin of 2 g/kg and methylprednisolone 30 mg/kg/day were administered over the course of 5 days. Over the subsequent 6 days, he demonstrated marked improvement in language, behavior, appetite, and sleep. He was able to walk without support, and choreoathetoid movements diminished dramatically. Repeat cerebral and spine MR imaging remained normal.
At this time, results of CSF anti-NMDA-receptor antibodies were positive, and he was placed on mycophenolate with a plan to treat him with immune-modulatory therapy for a full year.
|
anti-nmda-receptor, anti-n-methyl-d-aspartate-receptor, anti-nmdar, behavioral outburst, csf, cerebrospinal fluid, child, eeg, electroencephalogram, encephalitis, paraneoplastic syndrome, psychosis
| Not supported with pagination yet
| null |
PMC4501442_01
|
Male
| 69
|
A 69-years-old male patient was referred to physician with complains of cough for 3 months, tiredness and weight loss during September 2002 in north east of Iran. The patient indicated no history of fever at night and chills and also no family history of pulmonary tuberculosis. In examination no underlying disease and HIV was detected but he was heavy smoker. Three sputum samples were obtained over a 3-day period for acid-fast bacilli (AFB) smears and culture. The direct smears were positive for AFB, and his disease was diagnosed as pulmonary tuberculosis. He received standard anti-TB treatment recommended by WHO, consisting of rifampin (RIF), isoniazid (INH), ethambutol (EMB) and pyrazinamide (PZA) for two months, followed by four months of RIF and INH while his compliance was low. In March 2003, his weight increased and major health improvement was noticed. The smear was negative and consequently the treatment was stopped. In April 2003, because of symptoms recurrence, treatment was begun according to cat II as follow: two months treatment with RIF, INH, EMB, PZA and streptomycin (STR), followed by one month of RIF, INH, EMB and PZA, followed by five months RIF, INH and EMB. In January 2004 patient was admitted with hemoptysis. At this time direct smear was positive and therefore culture of sputum and drug sensitivity test was performed. The exams resulted in positive culture which was resistance against RIF, INH, EMB and STR. The patient was hospitalized for 124 days in the National Research Institute of Tuberculosis and Lung Diseases (NRITLD) (Tehran, Iran) and treatment was started with second-line anti-tubercular regimen consisting ciprofloxacin (Cip), amikacin (AMK), prothionamide (PTH), cycloserine (CYC), clarithromycin (CLR), amoxicillin-clavulanate and vitamin B6. The patient poorly followed his treatment for several years in spite of symptoms. In May 2008, because of no response to treatment, drug sensitivity test was performed for second-line anti-tubercular regimen using two critical proportions of 1% and 10%. The result (after 42 days incubation at 37 C) showed resistance against Amikacin, Ciprofloxacin, Cycloserine, Ofloxacin (OFX), Capreomycin (CAP), p-aminosalicylic acid (PAS), ethionamide (ETH), Kanamycin (KAN). In August 2012, due to unusual persistence and resistance of infection, more investigation was recommended using biochemical molecular methods and therefore sputum culture and drug sensitivity test was performed in Regional Tuberculosis Reference Laboratory in Mashhad. It showed that direct smear and sputum culture was still positive for AFB. In September 2012, direct smear and culture was repeatedly positive and during this time due to digestive side effects, the patient refused to use regular drugs consumption. Mycobacterium isolated was niacin negative and had smooth colony and was resistance against RIF, INH, EMB and STR. PCR was performed on isolated mycobacterium that revealed NTM (unknown species). For more confirmation, another sputum sample was sent to NRITLD on January 2013. Using molecular methods particularly Spoligotyping, the isolated strain was identified as M. tuberculosis. In March 2013, chest radiography revealed a bilateral infiltration in upper lobes (Fig. 1).
At that time his laboratory values were as follow: white blood cell (70.6% neutrophils) and red blood cell count were normal, Hemoglobin: 18.8 g/dL, Hematocrit: 58.5 mL/dL, urea: 47 mL/dL, Cr: 1.4 mL/dL, Aspartate aminotransferase (AST): 23 IU/L, Alanine aminotransferase (ALT): 19 IU/L. On physical examination, his blood pressure was 90/60 mmHg, his weight was 55 kg. The patient still complained of cough and shortness of breath.
|
mycobacterium tuberculosis, ntm, xdr-tb
| Not supported with pagination yet
| null |
PMC8497133_02
|
Female
| 52
|
A 52-year-old female underwent a cone beam CT scan for preimplant and temporomandibular joint assessment. A cluster of multiple radiopacities was incidentally noted in the immediate soft tissues lateral to the left masseter muscle and bilaterally below the zygoma (Figures 2(a) and 2(b). The radiopacities were irregular in shape and similar to those in cortical and cancellous bone in density. Differential diagnoses considered osteoma cutis, myositis ossificans, heterotrophic/dystrophic calcifications, and foreign bodies. The patient was contacted and has confirmed receiving cosmetic fillers in the face. Nine months postbone graft for dental implant purposes, the filler material showed posterior-superior migration and reduction in size and density (Figures 2(c) and 2(d)).
| null | Not supported with pagination yet
| null |
PMC6198119_01
|
Female
| 73
|
A 73-year-old woman presented with a chest X-ray finding of right lower lung field nodule, which was diagnosed by transbronchial lung biopsy (TBLB) as adenocarcinoma harboring epidermal growth factor receptor exon21 L858R. 18F-fluoro-2-deoxyglucose positron emission tomography (18FDG-PET) showed uptake in the nodule and the multiple mediastinal and hilar LNs. Cancer stage was determined as clinical T1bN3M0 stage SHB at another hospital. After a month of taking gefitinib (250 mg) daily, chest computed tomography (CT) showed a dramatic decrease in the size of the primary lesion from 20 to 10 mm, but the lymphadenopathy persisted (Fig. 1A-D). Because the treatment effect differed between the lymphadenopathy and primary lesion, she was admitted to our hospital for definitive LN diagnosis by EBUS-TBNA.
Physical examination on admission showed normal breath sounds and no superficial lymphadenopathy. Laboratory examinations showed the following: CEA, 4.3 ng/mL; SLX, 36 U/mL; soluble IL-2 receptor, 349 U/mL; angiotensin-converting enzyme, 14.6 U/mL; and Ca, 9.2 mg/dL. Chest X-ray and contrast-enhanced CT showed an irregularly shaped peripheral nodule in the right lower lobe and several bilateral mediastinal LNs with high FDG uptake on PET (Fig. 1E).
During EBUS-TBNA, the EBUS images showed homogeneous echogenicity and straight vessels in the LNs (Fig. 1F). Two samples were individually obtained from stations 4L and 4R by EBUS-TBNA. The pathological findings showed several non-caseating epithelioid granulomas, without tumor cells (Fig. 2A). Moreover, the PAB antibody detected small round bodies in the LNs (Fig. 2B), indicating that the lymphadenopathy was caused by sarcoidosis, not sarcoid reaction. Therefore, her stage was changed to clinical T1bN0M0 stage IA.
Following the discontinuation of the gefitinib course, right lower lobectomy and regional lymphadenectomy were immediately performed (Fig. 2C). Intraoperative findings showed non-coalescent and flat mediastinal LNs, showing the same pathological findings as those of the EBUS-TBNA LN samples. The final pathologic diagnosis was stage IA lung adenocarcinoma with sarcoidosis of the mediastinal LNs (Fig. 2D-F). There were no findings suggestive of sarcoidosis in the eyes, lung parenchyma, heart, skin, etc. The patient was followed up post operation for several years.
|
18f-fluoro-2-deoxyglucose positron emission tomography, a specific monoclonal antibody against propionibacterium acnes, endobronchial ultrasound-guided transbronchial needle aspiration, propionibacterium acnes
| Not supported with pagination yet
| null |
PMC8794793_02
|
Female
| 6
|
Further diagnostic evaluation excluded maternal T cell engraftment by short tandem repeat analysis. Chromosomal microarray was normal. Next generation sequencing for genetic causes of SCID was performed at 6 weeks of age, identifying a novel TBX1 heterozygous pathogenic variant (c.1176_1195dup20, p.Glu399Glyfs), leading to a frameshift that determined a premature stop codon at position 467. This C-terminal truncation in exon 9 is predicted to disrupt the transactivation domain of TBX1 where the nuclear localization signal is located and lead to loss of normal protein function. TBX1 haploinsufficiency was consistent with T-B+NK+ immunophenotype and facial dysmporphism. Single variant sanger sequencing of both the mother and father showed normal sequence of TBX1. Cultured peripheral blood CD34+ hematopoietic stem cells from the patient differentiated normally up to the CD3+ T cell stage, with pro-T, double-positive and double-negative T cells present as normal levels, indicating that the primary disorder was most likely outside of the hematopoietic compartment. HLA typing of family members identified an HLA-matched six year old sibling who had received all age appropriate vaccines. Other evaluations included a chest X-ray that was remarkable for the absence of thymic tissue, a normal transthoracic echocardiogram, and normal parathyroid hormone and calcium levels.
Given the diagnosis for TBX1 haploinsufficiency, definitive therapy with thymic transplantation was pursued. During this time, the patient remained in protective isolation on antimicrobial prophylaxis. At 2 months of age, she developed a mild maculopapular erythematous rash on her face, trunk, and extremities. Skin biopsy showed spongiotic dermatitis on hematoxylin and eosin staining consistent with eczema. Infectious evaluation for systemic viral infections including EBV, CMV, herpes simplex virus, human herpesvirus 6, and adenovirus (ADV) were negative. Peripheral blood T-cell receptor (TCR) spectratyping at 2 months age revealed an abnormal TCR Vbeta repertoire with 21/28 TCR Vbeta families and sub-families showing an oligoclonal (<5 independent peaks) distribution, two families displaying no peaks, and five families demonstrating a polyclonal, non-Gaussian distribution. She responded well to topical steroids, and the rash quickly resolved. Two months later (4 months of age), she developed fever and rhinorrhea secondary to Rhinovirus. Concurrently, she developed an eczematous generalized rash with associated erythroderma, severe pruritus and alopecia universalis. Laboratory assessment was notable for an elevated IgE, increased absolute eosinophil counts, and CD3+, CD4+, and CD8+ lymphocytosis, mainly with a memory phenotype ( Table 1 ). Repeat peripheral blood TCR spectratyping was consistent with previous abnormal TCR Vbeta repertoire findings. Clinical and laboratory features were consistent with OS. She was treated with high dose systemic steroids and then transitioned to cyclosporine leading to skin rash and alopecia resolution after 3 weeks of treatment. The development of OS led to re-evaluation of treatment strategies and consideration of MSD HCT. However, given the thymic epithelial defect present, a decision to hold and wait for thymic transplantation was made.
At seven months of age, the patient developed new onset protracted vomiting and fever. Infectious evaluation was remarkable for severe adenoviremia (ADV PCR: >1,000,000 copies/mL) and elevated transaminases. Viral load and transaminases continued to increase over the following month despite treatment with cidofovir. Due to persistent adenoviremia despite maximal antiviral therapy, presence of life-threatening end-organ involvement, and lack of expected immune recovery, the patient was subsequently treated with two infusions (2x107cells/m2) of CTLs specific for adenovirus (HLA class-II mediated antiviral restriction). These virus specific CTLs were generated from third-party, healthy donors who were partially HLA-matched (5/10 and 4/10) with the recipient, and whose cells were confirmed to have class II HLA-restrictions that were shared with the patient. Partial clinical improvement with reduction in liver function tests, improvement of liver synthetic dysfunction, and reduced adenovirus viral load were achieved but not sustained ( Figure 2 ). Due to persistent adenoviremia and hepatitis despite antiviral therapy and adenovirus-specific CTL infusions, the patient underwent an unconditioned, unmanipulated bone marrow transplant from 10/10 MSD (10x106 CD34+ cells/kg; 5.2x107 CD3+ cells/kg) 2 months after developing adenoviremia. Immediately after cell infusion, there was a surge of adenoviral load attributed to massive lysis of adenovirus infected cells, that corresponded to development of fulminant hepatitis and ultimately hepatic failure. The degree of viremia ( Figure 2 ) progressively declined and was <1,000 copies/mL within seven weeks post-HCT with associated improvement in transaminases. GvHD prophylaxis included cyclosporine, replaced by tacrolimus on Day +6. Unfortunately, despite a decline in adenoviremia, she developed direct hyperbilirubinemia with biopsy confirmed acute stage 3 liver GvHD ( Figure 3 ) without signs of skin or intestinal GvHD. Despite initial response to systemic corticosteroids and calcineurin inhibitor, chronic liver GvHD developed during withdrawal of immune suppression, ultimately requiring sirolimus (added on Day +79), a course of rituximab (4 doses spaced weekly), ruxolitinib, and extracorporeal photopheresis (ECP) for eight months to achieve adequate response.
Over the last four years, immune reconstitution, and donor chimerism have been monitored closely. She has shown consistently appropriate T cell engraftment with > 90% donor-derived T cells ( Figure 4 ). After an initial robust T cell response, CD3+, CD4+, and CD8+ absolute counts have plateaued in the low-normal range. Lymphocyte function has remained normal. TCR Vbeta repertoire at 3.5 years of age demonstrated improvement but persistent skewed repertoire, with polyclonal Gaussian distribution in 17/28 probes, nine polyclonal probes with non-Gaussian distribution, and two showing oligoclonality. Most recent CD4+ T cell flow cytometry analysis performed at 4 years of age showed a low naive T cell compartment for age (CD45RA+RO-CD4+: 8%) with a predominant central and effector memory signature (CD45RA-RO+CD4+ 92%). Recent thymic emigrants were also found to be decreased with only 3.7% CD4+ T cells expressing recent thymic emigrant markers CD45RA+RO-CD4+CD31+. Clinically, the patient has thrived with normal liver function as assessed by transaminases (ALT, AST, GGT), albumin, and bilirubin. She has remained free of serious invasive infections. Immunoglobulin replacement therapy was required for 2.5 years following HCT, which was attributed to rituximab exposure during GvHD treatment, but was able to be discontinued at 3 years of age successfully. Finally, upon last assessment, the patient has demonstrated robust responses to diphtheria and tetanus vaccinations along with persistent 100% donor derived T cell chimerism. Ultimately, our patient is enrolled in school and continues to thrive living an age appropriate lifestyle.
|
tbx1 congenital athymia, adenoviremia, definitive treatment, hematopoietic-stem-cell-transplantation, newborn screening (nbs)
| Not supported with pagination yet
| null |
PMC4339940_01
|
Male
| 27
|
An apparently healthy, 27-year-old Indian male donor passed all eligibility criteria tests and donated blood (triple bag) at a tertiary cancer hospital. After 20 days, the donor informed the blood bank that he had developed vomiting and jaundice 1 day postdonation, for which he had visited a physician and was investigated in a local laboratory, wherein the liver function tests were found to be elevated [Table 1].
The donor contacted our blood bank 20 days after donation and conveyed about an outbreak of similar symptoms in his residential community during the same period. Accordingly, we investigated him for hepatitis A and E virus in the microbiology laboratory of our hospital. Hepatitis E IgM antibody by enzyme-linked immunosorbent assay (ELISA) was found to be positive. The hepatitis A IgM antibody by chemiluminiscent microparticle immunoassay was negative. There was improvement in the liver profile as compared to prior reports [Table 2].
The donor's packed cells had already been issued during this interim period of 20 days as all mandatory TTI tests had been negative. The patient receiving the implicated packed cells was symptom free 35 days posttransfusion. Laboratory investigations could not be performed as he had already been discharged and was a resident of another state. The cryoprecipitate unit and factor VIII-deficient plasma were discarded immediately to prevent the possibility of HEV transmission.
|
blood donor, hepatitis e, screening
| Not supported with pagination yet
| null |
PMC9742929_01
|
Female
| 24
|
A 24-year-old pregnant woman with premature rupture of membrane and labour pain was admitted to the Maternity ward of Al-Hadi Hospital in Shoushtar, Iran, on 26 October 2018, at 3:30 a.m. for her third pregnancy. The gestational age based on the first day of the last menstrual period (LMP) was 36 weeks and 2 days, and based on sonography was 36 weeks and 5 days. Sonography at 9 weeks and 4 days and at 25 weeks and 3 days of gestation found no abnormalities in foetal development. No prenatal genetic investigation and eventual genotypic characterization were carried out for the baby. In the 36th week of gestation (27 October 2018, at 11:50 a.m.), a live male infant was delivered via caesarean section due to a slow foetal heartbeat and continued labour pain. The baby was diagnosed with HI. His birthweight, length and head circumference was 2.700 kg, 42 cm and 36 cm with Apgar 8, respectively. Apgar's score in the 5th minute was measured as 10. The baby had ichthyosis of the scalp, face and neck with outward pouting of lips or fish mouth, compressed ear pinna and open eyes because of the outward turning of eyelids from the eyeball. The head was characterized by a scalp with partial hair loss (alopecia) (Figure 1). The newborn at birth was not evaluated for markers of inflammation, electrolytes and so on. The baby was sent to the neonatal intensive care unit (NICU) upon delivery. The nurses tried several times to get an intravenous line (IV) from the neonate, but they failed. Hence, 2 days later, the baby was transferred to the neonatal unit. According to the physician's recommendation, no antibiotics were administrated. The skin management included eye softeners, saline compresses and gentle emollients. However, he died on the 5th day.
The parents had a distant relationship and had no similar condition of HI in the previous pregnancy or family history. They had a healthy child. In her second pregnancy, she had delivered a stillborn male infant at 38 weeks' gestation due to diminished foetal movement and delay in reaching a hospital.
|
dermatopathology, case report, harlequin ichthyosis, healthcare delivery
| Not supported with pagination yet
| null |
PMC6590510_01
|
Male
| 65
|
A 65-year-old male was admitted to our hospital because of ecchymosis on both lower extremities. Three years before admission, he was diagnosed with ITP by laboratory tests, including antibodies against platelet glycoprotein (GP) IIb/IIIa and GP IV, and bone marrow aspiration. He had been treated successfully with corticosteroids. History included nontuberculosis mycobacterial infection. Previous treatment included prednisolone (PSL; 5 mg/day), clarithromycin, rifampicin, and ethambutol hydrochloride. Two weeks before admission, routine laboratory examination showed normal platelet counts (PC; 185 x 109/l).
On admission, laboratory findings showed a PC of 3.0 x 109/l. Biochemical parameters and coagulation values were within the normal limit. Antibodies against Helicobacter pylori, hepatitis C virus (HCV), hepatitis B virus (HBV), and human immunodeficiency virus (HIV) were negative. We diagnosed him with acute exacerbation of chronic ITP. The clinical course is shown in Supplementary Figure 1.
He was treated immediately with high-dose IVIG, PSL (40 mg/day, p.o.), and romiplostim (1 microg/kg). During the next four days, he developed respiratory failure; PaO2/FiO2 ratio was approximately 250. On the fourth day of hospitalization, computed tomography (CT) revealed ground-glass opacities (GGOs) with marginal infiltration in both lung fields, on the basis of which a diagnosis of alveolar hemorrhage was made. His dyspnea worsened gradually, and noninvasive positive pressure ventilation (NPPV) was initiated.
On the 11th day of hospitalization, a higher dose of romiplostim (10 microg/kg) was initiated together with pulsed doses of methyl-PSL (1000 mg/day for 3 days) and a second cycle of IVIG. His PC recovered by the 21st day of hospitalization, and he was discharged without any complications. The patient's PC has remained normal whilst being treated with 12.5 mg of PSL daily for 12 months, without recurrence of alveolar hemorrhage.
| null | Not supported with pagination yet
| null |
PMC6267714_01
|
Male
| 9
|
A 9-year-old, male, neutered, domestic shorthair cat was presented to his primary veterinarian for lethargy and decreased appetite. Nine months prior to this presentation, the patient had been diagnosed with renal disease; at that time blood urea nitrogen (BUN) had been 107 mg/dL (reference interval [RI] 15-34 mg/dL), creatinine 9.2 mg/dL (RI 0.8-2.3 mg/dL), and urine specific gravity (USG) 1.019. Uroliths had been noted in the record, although no diagnostic imaging reports are available. Following fluid therapy and other supportive care, renal values had improved by the following month to BUN 32 mg/dL and creatinine 2.1 mg/dL.
Now on presentation to the primary veterinarian, severe azotemia had recurred with BUN 96 (RI 16-36) and creatinine 11.3 (RI 0.8-2.4 mg/dL). Complete blood count was consistent with a stress leukogram: white blood cells 14x109/L (RI 5.5x109-19.5x109/L), segmented neutrophils 76% (RI 35%-75%), and lymphocytes 14% (RI 20%-45%). Urinalysis identified isosthenuria (USG 1.012), with a normal protein:creatinine ratio of 0.3. No urine culture was performed. An ELISA test was negative for feline immunodeficiency virus antibody, feline leukemia virus antigen, and heartworm antigen. Treatment included fluid therapy and cefovecin 8 mg/kg subcutaneously (SC) (Convenia; Zoetis Inc, Kalamazoo, MI, USA), but on the seventh day of treatment azotemia had worsened, with BUN 201 mg/dL and creatinine 16.2 mg/dL. Abdominal radiographs showed a small right kidney, mildly enlarged left kidney, punctate mineral opacity in the pelvic region of the left kidney, and multiple mineral opacities suggestive of ureteral calculi. The patient was then referred to a specialty hospital (Hospital A).
On presentation to Hospital A, a grade II/VI systolic heart murmur was ausculted, and Doppler blood pressure was 160 mmHg. Urine culture was submitted and was negative. Ultrasonography of the abdomen showed bilateral dilation of the renal pelves (right 0.3 cm, left 0.45 cm), left renoliths, left ureteral dilation with ureterolithiasis, decreased cortico-medullary distinction in the kidneys bilaterally, and a right kidney smaller than the left (length in transverse section: right 2.05 cm, left 4.23 cm). Whole body radiographs showed minimal left atrial enlargement and an enlarged, irregular left kidney (6 cm in length) with left-sided nephrolithiasis and ureterolithiasis. Medical therapy was instituted with continued fluid diuresis, amlodipine 0.15 mg/kg by mouth (PO) q24h, ampicillin/sulbactam 22 mg/kg intravenously (IV) q12h, amitriptyline 1.2 mg/kg PO q24h, prazosin 0.06 mg/kg PO q12h, famotidine 0.48 mg/kg IV q24h, buprenorphine 0.007 mg/kg SC q12h, and aluminum hydroxide. After 2 days BUN improved slightly to 179 mg/dL (RI 7-27 mg/dL), but creatinine progressively increased to 18.5 mg/dL (RI 0.5-1.8 mg/dL). Blood pressure increased to 190 mmHg measured via Doppler. Repeat sonography revealed progressive dilation of the left renal pelvis to 0.57 cm (Figure 1), while the right renal pelvis remained stable. Repeat radiographs showed evidence of fluid overload with a mild increase in the size of the cardiac silhouette and prominent caudal lobar pulmonary vasculature. There were wispy fluid opacities in the retroperitoneal space (Figure 2).
The cat was then referred to a second specialty hospital (Hospital B). On arrival at Hospital B, the patient was tense on palpation of the left kidney and had a grade II/VI heart murmur. He appeared well hydrated, and his mucous membranes, body condition score, and lung sounds were normal. Baseline in-house labwork showed BUN >140 mg/dL (RI 15-34 mg/dL), creatinine 14.9 mg/dL (RI 1.0-2.2 mg/dL), and potassium 3.9 mmol/L (RI 2.9-4.2 mmol/L). Because the patient was presented during emergency hours, echocardiogram was deferred until the following day.
Given concern for ureteral obstruction, decompression of the left kidney via subcutaneous ureteral bypass (SUB) or double pigtail ureteral stent was planned. Surgical approach to the abdomen revealed a moderate amount of free abdominal fluid. The left kidney was enlarged and pale in color with vascularization of the renal capsule. The right kidney was small and irregular. In light of the abnormal gross appearance of the left kidney, an aspirate of the left renal cortex for cytology was performed (22 gauge needle, 3 mL syringe). In addition, urine was collected from the renal pelvis for bacterial and fungal culture using a 22 gauge IV catheter. Intraoperative fluoroscopic pyelogram demonstrated a tortuous, dilated proximal ureter with a proximal obstruction. Placement of a ureteral stent was attempted and was discontinued when a 150 cmx0.018 inch guide wire (Weasel Wire; Infiniti Medical LLC, Redwood City, CA, USA) would not feed past the ureterovesicular junction. A SUB device (Norfolk Vet Products, Skokie, IL, USA), consisting of a nephrostomy tube and a cystostomy tube connected by a subcutaneous infusion port, was then placed as described elsewhere. A contrast study confirmed the patency of the system. A Jackson-Pratt drain (MILA International, Florence, KY, USA), 3.5 French red rubber urinary catheter (Covidien LLC, Mansfield, MA, USA), 14 French esophagostomy tube (MILA International) in the left mid-cervical region, and 5.5 Frenchx13 cm triple-lumen catheter (Jorgensen Labs, Loveland, CO, USA) in the right jugular vein were placed. Prior to recovery, a right lateral radiographic projection was obtained to document proper placement of the SUB system (Figure 3).
Immediate postoperative supportive care consisted of a combination of a balanced isotonic crystalloid (Plasmalyte A; Baxter International Inc, Deerfield, IL, USA) and a hypotonic crystalloid (2.5% dextrose and 0.45% sodium chloride; Abbot Laboratories, North Chicago, IL, USA), ticarcillin/clavulanic acid (GlaxoSmithKline, Research Triangle Park, NC, USA) 50 mg/kg IV q8h, gastroprotectants, and analgesia.
On postoperative day 1, echocardiogram found left ventricular concentric hypertrophy (left ventricular posterior wall at end diastole 6.59 mm, interventricular septum at end diastole 6.71 mm) consistent with either chronic hypertension or primary hypertrophic cardiomyopathy. Evidence of fluid overload included mild pericardial effusion and mild dilation of all chambers. IV fluid therapy was then minimized, with additional water provided via esophagostomy tube.
On postoperative day 2, the urinary catheter was removed. The patient's renal values initially improved rapidly, with a blood gas on postoperative day 3 showing BUN 65 mg/dL (RI 15-34 mg/dL) and creatinine 2.4 mg/dL (RI 1.0-2.2 mg/dL). Ticarcillin/clavulanic acid was discontinued in favor of amoxicillin/clavulanate (Clavamox; Zoetis Inc) 12.9 mg/kg PO q12h.
Four days postoperatively, repeat sonography of the left kidney showed that pyelectasia had resolved (Figure 4). The patient experienced a urethral obstruction, which was relieved with a 3.5 French red rubber urinary catheter, yet on the following day BUN increased to >140 mg/dL (RI 15-34) and creatinine to 9.3 mg/dL (RI 1.0-2.2 mg/dL). Alanine amino-transferase became elevated (137 U/L; RI 12-130 U/L). The cat developed relative oliguria (urinary output 0.68 mL/kg/hr) and had evidence of continuing fluid overload as indicated by generalized subcutaneous edema and chemosis. Furosemide (Vedco Inc, St Joseph, MD, USA) 1.9 mg/kg IV was given twice, followed by a constant rate infusion of furosemide 0.25 mg/kg/hr. Enrofloxacin (Baytril; Bayer HealthCare LLC, Shawnee Mission, KS, USA) 5 mg/kg IV q24h was added, and amoxicillin/clavulanate was discontinued. The patient inadvertently removed his urethral catheter and was able to urinate productively.
Six days postoperatively, renal cytology obtained at the time of surgery became available. Slides were cellular and considered to be of excellent quality. A moderate mixed inflammation of neutrophils, macrophages, and rare eosinophils was present. Oval and occasional budding fungal/yeast organisms were identified free throughout the background and phagocytized by macrophages; the appearance of the organisms was consistent with Candida. Bacterial and fungal cultures of urine aspirated from the renal pelvis at the time of surgery were negative, and a concentrated cytocentrifuge urine preparation for cytology was only sparsely cellular with no infectious organisms observed. Treatment for fungal infection was started with fluconazole oral suspension (Greenstone LLC, Peapack, NJ, USA) 7 mg/kg enterally q12h. Enrofloxacin was discontinued.
On the same day, the port of the SUB system obstructed with debris and was exchanged under anesthesia. On postoperative day 7, the patient's packed cell volume decreased to 15% with total protein 6.2 g/dL. A transfusion of packed red blood cells (35 mL) was administered without complication following doses of furosemide 2 mg/kg IV and dexamethasone SP (Bimeda-MTC Animal Health Inc, Cambridge, Ontario, CA) 0.1 mg/kg IV.
On postoperative day 8, creatinine and potassium continued to rise, and the patient showed evidence of progressive fluid overload, now including the development of pleural effusion. Thoracocentesis yielded 110 mL of pleural fluid.
Kidney values peaked postoperatively on day 9 (3 days after starting fluconazole), with BUN >140 mg/dL (RI 15-34 mg/dL) and creatinine 11.6 mg/dL (RI 1.0-2.2 mg/dL). Following this time azotemia improved rapidly; on day 13, BUN was 56 mg/dL and creatinine 2.8 mg/dL (Figure 5). Ultrasound showed scant perirenal fluid on the left. The SUB system was flushed, demonstrating normal flow. The patient was discharged home, and fluconazole was continued for 3 months.
Twelve weeks postoperatively, the patient experienced clinical signs of hyporexia and vocalization while eating, with a feline pancreatic lipase (Spec fPL; IDEXX Laboratories, Westbrook, ME, USA) of 32 microg/L (RI 0-3.5 microg/L). There was no obstruction of the SUB or urethra, and no renal pelvic dilation when examined sonographically. A urine culture at the same time grew Enterococcus >100,000 organisms/mL. The patient was successfully treated for presumptive pancreatitis and the urinary tract infection. Five months postoperatively, the patient was doing well with creatinine 2.5 mg/dL and BUN 39 mg/dL; bacterial and fungal cultures of urine were negative. Seven months postoperatively, the patient's renal values increased again (creatinine 5.6 mg/dL, BUN 70 mg/dL). His SUB system remained patent, and bacterial urine culture was negative; fungal urine culture was not repeated. Fluconazole was resumed (6.8 mg/kg PO q12h), and 1 week thereafter renal values again decreased (creatinine 3.1 mg/dL, BUN 37 mg/dL). Eleven months (338 days) postoperatively, the patient was euthanized due to progression of his kidney disease despite systemic antifungal therapy and a patent SUB system. Postmortem histopathology of the kidney showed chronic interstitial fibrosis with tubulointerstitial nephritis, glomerulonephritis, and tubular dilation; these changes are consistent with chronic pyelonephritis and obstructive disease. No organisms were found on Grocott/Gimori's methenamine silver stain, and fungal culture of renal tissue was negative.
|
interventional radiology, invasive fungal disease, mycoses, ureteral obstruction, urinary tract infection
| Not supported with pagination yet
| null |
PMC4736519_01
|
Female
| 30
|
A 30-year-old woman with severe active left sided Ulcerative Colitis (UC) (Montreal classification E2, Mayo endoscopic subscore 3 at the last colonoscopy), who had already failed multiple courses of steroids and 5ASA, was referred to our third level Gastroenterology Unit because of rapid worsening of rectal bleeding and dyspnea of 4 days duration. Chest X-rays showed a round lesion in inferior right lung lobe (Fig. 1). In the internal side of the left popliteal region the patient had a purple skin lesion (diameter 5 cm), compatible with Pyoderama Gangrenosum (PG) (Fig. 2). Blood tests showed: WBC count 17.160/mmc, Hb 9.9 gr/dL, C Reactive Protein - CRP - 6.37 mg/dL, AST/ALT 54/158 U/L. Stool cultures were negative, such as screening for hepatotropic viruses (HAV, HBV, HCV, EBV) and for autoimmune diseases (ANA, AMA, SMA, LKM). We started antibiotic therapy with ciprofloxacin 200 mg bid and metronidazole 500 mg qd iv (prolonged for 14 days), and topical tacrolimus bid for the treatment of PG. Before starting steroid therapy we performed a High-Resolution CT, confirming a nonhomogeneous 2.5 cm diameter lesion, close to the pleura, with irregular borders compatible with a benign lesion (Fig. 3). Blood cultures and fungal antigens screening were negative; serum IgM for CMV and plasma CMV-DNA were positive. We suspected hence a CMV-related pneumonia, causing at the same time the hepatitis and the UC recrudescence. Ganciclovir was administered for 21 days obtaining negative viremia; we finally started steroid therapy with prednisone 50 mg per os once daily, with nevertheless a poor improvement of intestinal symptoms. A CT chest scan performed 2 months later showed a dimensional growth of the lung lesion (until 3 cm diameter) and patient underwent a bronchoscopy with broncho-alveolar lavage (BAL), which confirmed chronic inflammatory cells infiltrate; acid-fast stain, culture, and PCR for tuberculosis were negative, as well as molecular test for CMV. A CT-guided biopsy was therefore performed and histology showed lymphocytes, granulocyte, and activated mesothelium, whereas immunochemistry for Anti-keratin antobodies (AKA) was negative: these findings were consistent with pulmonary non-necrotizing granuloma (Fig. 4). Even if the patient had not renal or nasopharyngeal involvement, we performed a cANCA screening (negative), excluding a Wegener's Granulomatosis. Because of a further worsening in clinical condition, we started a "rescue therapy" with cyclosporine 4 mg/kg iv combined with azathioprine (AZA) 2.5 mg/kg/day for maintenance. After a great improvement in the first 72 h, the patient reported rapid onset of nausea and vomiting and a moderate recurrence of UC (3-5 bloody stools emissions, abdominal pain). AZA was therefore discontinued for intolerance. Giving the presence of the refractory UC, the decision to perform a restorative total colectomy with temporary protective ileostomy and delayed proctectomy was taken. A rectoscopy after few weeks showed the persistence of severe inflammation in the rectal stump. We attempted a treatment with infliximab (IFX), 5 mg/kg at week 0, week 2, and week 6, observing only a partial improvement in intestinal disease; the patient, moreover, manifested a severe allergic reaction, accompanied by a progressive worsening of PG, and IFX was then discontinued. Proctectomy with ileal pouch-anal anastomosis (IPAA) was then performed. Postoperative course was regular, PG achieved the remission in few weeks after the complete removal of the rectum (Fig. 5) and subsequent chest CT scan showed the concomitant resolution of the pulmonary lesion (Fig. 6).
|
crohn's disease, inflammatory bowel disease, lung granuloma, pyoderma gangrenosum, ulcerative colitis
| Not supported with pagination yet
| null |
PMC5964462_02
|
Female
| 12
|
Patient 2 is a 12-year-old girl with a 2-year history of social anxiety disorder with panic attacks and angry outbursts1. She has previously received supportive counselling. At assessment she is quiet, frequently says, "I don't know", and is quick to agree with suggestions. She often looks to her mother to answer questions. She has not attended school for 9 months. She experienced bullying in school, near her home and on social media for several years. At home, she does not use the telephone or social media. She responds to, but does not initiate, text conversations. She will not travel alone, eat or drink in public, or socialize without her mother.
A particularly important intervention for Patient 2 was training in an external focus of attention and learning that "the scariest place is in my head". As well as recovering from social anxiety, she returned to full-time education, developed a new friendship group, and attended a dance-drama club. Angry outbursts and panic attacks resolved.
|
cognitive therapy, adolescent, social anxiety, young people
| Not supported with pagination yet
| null |
PMC4960329_01
|
Male
| 12
|
A 12-year-old child, male, was admitted to the Department of Neurology in Beijing Chaoyang Hospital. Three weeks before his admission, he received the vaccination of hepatitis B. He was with symptoms of myasthenia of limbs and alteration of consciousness. He also had high fever, with the body temperature maintained between 38 C and 38.5 C. He was with no symptoms of headache, dizziness, nausea, vomit, sphincter dysfunction, and optic neuritis. Four years ago, he had suffered from essential thrombopenia, which relapsed two years ago. He had no history of toxic substance, allergy, operation, trauma, blood transfusion, and inheritance history. He was a full-term baby, with normal vaginal delivery. His mother had suffered from a disease of allergic purpura.
Physical examination on his admission showed that he was with somnolence and uncooperative. His pupils were equal in size and round. The optic nerve was normal. Bilateral light reflexes retained. Muscle strength of limbs grading (II level) was found with hypomyotonia. Sensory tests were uncooperative. Abdominal reflex and cremasteric reflex were negative. The signs of bilateral Babinski and Gordon were positive. Ankle clonus was also detected. Neck resistance was also found.
On admission, the results of blood test were as follows. WBC level (15.8 x 109/L) and the proportion of neutrophils (85.2%) were markedly increased. Procalcitonin was 0.05 ng/mL, which indicated no bacterial infection. C-reactive protein was increased, which was 1.14 mg/dL (0-0.8 mg/dL). ESR was 50 mm/H (2-15 mm/H). IgG was 1750 mg/mL (751-1560 mg/mL). IgA, IgM, C3, and C4 were normal. Sputum cultures of bacteria, fungus, virus, and tuberculosis were negative. Total protein and albumin in blood were decreased. Globulin and total bilirubin were normal. The cerebrospinal fluid (CSF) examinations showed increased pleocytosis (52/muL) and leucocyte count (40/muL). The CSF was composed of 90% mononuclear cells and 10% polynuclear cells. Pandy test was negative. Total protein was normal. Glucose (4.77 mmol/L) was slightly increased (2.5-4.4 mmol/L). Chloride (115.1 mmol/L) was slightly decreased (118-129 mmol/L). Oligoclonal band was found. The aquaporin 4 antibody was negative. Bacteria, mycobacterium tuberculosis, virus (e.g., herpes simplex encephalitis virus, cytomegalovirus, and Epstein-Barr virus), and fungal cultures from CSF and blood serology, with PCR also performed, were negative.
Three days after his admission, MRI of brain and spinal cord also revealed some abnormal findings. His brain MRI showed widespread abnormal signals on FLAIR image (Figure 1). Spinal cord MRI showed that there were abnormal multifocal, strip long T1 and T2 signals at the cervical and intumescentia lumbalis (Figure 2). Furthermore, evoked potential such as brainstem auditory evoked potentials and somatosensory evoked potential also showed some abnormal changes in this case. The visual evoked potential was normal.
With treatment with high-dose methylprednisolone and intravenous immunoglobulin and also with some antibiotic and antiviral therapy, he showed a dramatic improvement of the clinical and CSF results. About four months later, he recovered completely and there was no relapse during three years of follow-up.
| null | Not supported with pagination yet
| null |
PMC3931215_01
|
Male
| 41
|
A 41-year-old male presented to the surgery outpatient department in Goa with a 2 day history of painful swellings on the left side of his neck with low-grade fever, malaise, and muscle pain of one day duration. There was no history of accompanying chills and rigor or rash. There were no ear, nose, and throat (ENT) or tooth complaints. There was no history of night sweats, loss of weight and loss of appetite. His past medical and family history was unremarkable. He had no history of tuberculosis (TB) or TB contacts. There was no recent history of foreign travel, insect bites, exposure to cats or other animals.
On presentation, his general condition was good, with an axillary temperature of 38 C. On physical examination, he had multiple lymph nodes located in posterior triangle of the neck on left side; the largest being approximately 2 x 1.5 cm in diameter. The lymph nodes were tender, mobile and firm in consistency with a smooth surface. He did not have any other site of significantly enlarged lymph nodes. Thyroid gland was not palpable. ENT examination was normal. Physical examination revealed no other abnormalities. A cervical ultrasound scan confirmed the examination findings and also demonstrated few subcentimetric lymph nodes in the posterior triangle of the neck on right side. Abdominal ultrasound revealed no abnormalities. He was given a course of oral amoxicillin/clavulanate combination, antipyretics, analgesics and was reviewed at the end of a week. There was no change in the symptoms or size of the lymph nodal mass. Hence, a fine-needle aspiration cytology (FNAC) was performed. But the cytological features were inconclusive.
The patient was referred to the medicine department with fever increasing to around 40 C. He was advised certain investigations and prescribed another course of antibiotic for 5 days. With this treatment, fever subsided but joint pains appeared after 2 days, first in the wrists and fingers followed by shoulders on both sides. The joint swelling was more at the wrist and fingers. Laboratory investigations revealed normal blood cell counts. The peripheral smear was normal without evidence of atypical lymphocytes. His erythrocyte sedimentation rate (ESR) was 18 mm/hr. Urine analysis and serum uric acid was normal. Search for malaria parasites, antinuclear and double-stranded DNA antibodies, and rheumatoid factor was negative. Serologic tests for hepatitis A, B, and C, human immunodeficiency virus (HIV) and syphilis were negative. The serology was negative for both dengue IgM and IgG antibodies (immunochromatography). The chikungunya IgM antibody was not detected by serum IgM ELISA. The purified protein derivative (PPD) test was negative. There was no evidence of focal lesion on chest radiograph.
After 5 days the lower extremity joints were involved with profound swelling and limitation of movement; the swelling being more at the ankle joint [Figure 1]. He also experienced severe degree of myalgia in the thigh region. Patient was started on non-steroidal anti-inflammatory drugs (NSAIDs) and local application of magnesium sulfate salt. With this treatment the swelling and pain significantly decreased. But the lymph node swelling on the left side persisted and one more lymph node swelling appeared on the right side [Figure 2]. Thus, an excision biopsy was performed, with removal of this enlarged cervical lymph node. Histopathological examination of biopsy revealed necrotizing lymphadenitis with reactive hyperplasia. There was no evidence of histiocytosis, tuberculoid granuloma, or malignancy. A diagnosis of chikungunya was made based on history elicited by the patient and clinical findings. The arthralgia and myalgia persisted for a total period of 3 months following acute infection.
|
arthralgia, cervical lymphadenopathy, chikungunya
| Not supported with pagination yet
| null |
PMC3615939_01
|
Female
| 34
|
A 34-year-old woman with a cadaveric renal transplant was admitted with a history of fever for 2 days and productive cough.
She had undergone a cadaveric renal transplantation in July 2010, 10 months before this hospitalization. The immunosuppression for her renal transplant consisted of IV methylprednisolone and IV thymoglobulin, followed by oral tacrolimus, mycophenolate acid (Myfortic) and prednisolone. She had delayed graft function, requiring 3 sessions of hemodialysis immediately post-transplantation. The case was further complicated by an episode of acute cellular rejection (Banff 4b, type 1A), which responded to IV methylprednisolone for 3 days. Subsequent graft biopsy showed severe hypertensive changes, with only mild tubulitis. Prior to the transplantation she was on hemodialysis for 14 years (since 1996, primary etiology was unknown). She was a non-smoker, and a housewife.
On admission, she was noted to have high-grade fever and mild tachypnea. She was otherwise hemodynamically stable. The result of lung examination was essentially normal. An initial chest X-ray revealed a mass in the right upper zone, which developed into a cavity with an air-fluid level (chest X-ray 2 days post-admission) (Figures 1, 2). A CT scan of the thorax showed a cavity in the right lung, which could represent an infective lesion with endobronchial spread. Her renal function deteriorated acutely, and serum creatinine rose from her baseline of 110 umol/L to more than 200 umol/L. Her CRP was raised, at 11.4 mg/dL (normal <0.30 mg/dL), and ESR was 43 mm/hour. Her white blood cell count was not raised, at 6.5x103/uL. She was initially treated with IV ceftriaxone 2 g daily and oral azithromycin 500 mg daily.
On her 4th day of admission, her blood culture grew Rhodococcus species, sensitive to cefuroxime (parenteral), linezolid, rifampicin, vancomycin and meropenem, and resistant to chloramphenicol and tetracycline. In view of the culture findings and her persistent spiking fever, the antibiotics were switched to IV meropenem and metronidazole, her dose of mycophenolic acid (Myfortic) was halved, and her tacrolimus dosage was also reduced.
On her 10th day of admission, she was still having persistent spiking fever; IV fluconazole was added to cover the possibility of fungal infection, and her mycophenolic acid was stopped. Bronchoscopy was done, and the findings showed pus secretions from the lateral segment of the right upper lobe, and due to bleeding, transbronchial lung biopsy was not performed.
Her fever eventually subsided on day 12 of admission, with improvement in her cough. The bronchial washing results showed a negative culture, with no evidence of acid-fast bacilli or malignant cells. Endobronchial biopsy showed no evidence of granuloma or malignancy. Her serum creatinine slowly improved to her baseline of 110 umol/L.
IV metronidazole and fluconazole were stopped after 2 weeks, and she was continued on IV meropenem 1 g bd, and oral azithromycin 250 mg od was added. She remained afebrile, and her renal function was stable on tacrolimus and prednisolone. Her CRP and ESR were coming down to normal level as well. She was given IV meropenem for a total duration of 4 weeks, and was then put on a prolonged course (we initially planned for at least 2 months) of oral azithromycin and ciprofloxacin. Mycophenolic acid was restarted at a low dose (180 mg bd). She was discharged after a month of hospitalization.
One month after her discharge she developed fever and cough again, with greenish/chocolate coloured sputum. The repeated chest X-ray showed the same lesion (Figure 3), with no evidence of reduction in size. Repeated blood and sputum cultures, and tuberculosis work-up had all been negative. She was continued on oral azithromycin and ciprofloxacin, while IV meropenam was restarted and her mycophenolic acid was stopped again. A repeat CT scan of the thorax showed reduction of the cavity (from 7.3x9.3 cm to 5.6x5.7 cm). She was treated with meropenem for another week, and was discharged after 2 weeks of hospitalization. Again, mycophenolic acid was started at a low dose (180 mg bd).
One month after her second discharge, the repeated chest X-ray showed the same lesion (Figure 4), her ESR has come down to 14 mm/hour and CPR was 0.10 mg/dL. Although lobectomy was considered by the cardiothoracic team, the patient was reluctant.
A repeat CT scan of thorax was done 6 months after her first presentation, and it showed resolution of the abscess, and her chest X-ray also showed the lesion was cleared up (Figure 5). Her oral azithromycin and ciprofloxacin were stopped after 6 months. She remained well 7 months after the initial presentation, with her renal function at the post-transplantation baseline level (110 umol/L).
|
rhodococcus, lung abscess, renal transplantation
| Not supported with pagination yet
| null |
PMC6093033_01
|
Female
| 47
|
Two healthy volunteers and ten patients (six males and four females; 47.20 +- 20.47 years old) were recruited at the USL 5 Rehabilitation Centre at Fornacette (Pisa), Italy. Nine performed PS training, while seven performed both PS and FE movements. All patients received a medical indication of the following traditional rehabilitation physiotherapy of the forearm due to fracture(s) at the elbow or wrist joints and after at least a period of 7 to 10 days after the splint withdrawal. None presented fragments instability, severe pain sensation, kinaesthetic or tactile sensorial disorders in the upper limb, or cognitive impairment. The subjects were informed regarding the aspects of the study and signed their informed consent before the experimental sessions. The study was reviewed by the local ethics committee.
All patients underwent a battery of clinical assessments: (i) the ranges of motion with extendable goniometers and following standard procedures, (ii) the strength of the affected hand by the Jamar strength test, and (iii) the pain sensation using the VAS pain test (Visual Analogue Scale for the pain test). The musculoskeletal ability to perform activities of daily life applying the Italian version of the DASH Questionnaire (Disabilities of the Arm Shoulder and Hand Questionnaire) normalised to a scale from 0 to 100 where the zero score means no impairment and proper functionality, while 100 means severe impairment and limited functionality. The patients presented reduction of mobility at the limits of functional FE RoM (90.17 +- 23.08 , with 104.25 +- 28.89 of flexion below a functional range of 130 and 13.83 +- 18.48 of extension) and also at the limits of functional PS RoM (118.60 +- 11.07 , with 58.80 +- 20.89 of pronation and 59.80 +- 20.27 of supination), presented a small registered hand strength of 15.40 +- 16.09 kg, reported mild pain sensation of 4.3 +- 2.0, and self-perceived disability of 59.46 +- 10.79% according to the DASH score. Table 2 shows the clinical characteristics of the patient population.
With the first aim of evaluating the functionality of the system, we recruited two healthy volunteers for testing the system before the evaluation in patients. We were particularly interested in studying the capability of the system for assigning incremental working profiles at moderate loads, under safe conditions at any moment and without overloading the patients.
We analysed their muscular activity to verify the effectiveness of the system in assigning different working loads in a training session under similar conditions, as for patients.
The subjects were invited to perform 45 minutes of training with the Bells game. Three motion velocities (low, medium, and high), under three haptic feedback modalities, were applied: zero force (ZF), assistance force (AF), and resistance force (RF) feedback. Two different force intensities were used for AF and RF, for a total of 15 working load combinations: 3 velocities x (2 AF + 2 RF + 1 ZF). The velocity levels for FE were 80 /s (low), 110 /s (medium), and 190 /s (high) (corresponding to movements within an RoM of 125 in time periods of 1.5 s, 0.9 s, and 0.65 s, resp.). The force feedback consisted of estimated mean values of 2.73 N (medium) and 5 N (high) for AF, while 1.8 N (medium) and 2.5 N (high) for RF. The ZF + medium velocity condition corresponded to natural movements during the calibration at the beginning of the session.
The muscular activation was monitored through surface electromyography (sEMG) by seven pairs of surface electrodes placed on two muscles of the subjects' upper limb: the biceps brachii (BB) and triceps brachii long head (TBL). SENIAM recommendations were followed for sensor positioning and the skin preparation (http://www.seniam.org). Ag/AgCl foam pregelled electrodes with a diameter of 24 mm were used with an interelectrode distance set to 20 mm for each bipolar derivation. The ground and the reference electrodes for all bipolar derivations were positioned at the elbow. All electrodes were connected to an amplifier (g.USBamp amplifier; http://www.gtec.at/) and digitally converted (1200 Hz sample frequency, 12-bit resolution). We preprocessed the envelopes of the activation signals for analysing isolated movements, as follows.
A band-pass filter was applied (5-500 Hz bandwidth), followed by high-pass filtering (cutoff frequency of 20 Hz), full-wave rectification, and low-pass filtering (1 Hz cutoff frequency). Then, the signals were divided into epochs using the maximum peak of the recorded FE elbow angle as a reference trigger and resampled using a cubic spline interpolation. Figure 6 shows the average muscle profiles of a healthy volunteer under the different tested conditions.
To verify the suitability of the system to be used as an aided method for orthopaedic physiotherapy of the forearm, we carried out a second experiment with patients. The tests were done to confirm the capability of the system for providing controlled and moderate motion tasks with patients, after the preliminary evaluation with two healthy volunteers. To this purpose, first, we analysed the kinesiologic patient's performance and the relationship of the variable difficulty training levels with the current patient clinical conditions according to the standard clinical outcomes (JAMAR, VAS, and DASH tests). We were also interested in two other issues: (i) the possibility of introducing a new predictive metric of performance as a critical tool for guiding the recovery by the therapist and (ii) assessing the system and verifying its acceptance by patients.
The tests lasted 30 minutes of exercising divided into three parts, with two pauses of 2 minutes for resting, for a total of 45 minutes per session, including the initial calibration phase. For practicality, for FE movements, all tested the Bells game because it did not require the external support of the arm.
Before starting the session, the patient was assisted to sit down in the correct posture. Next, we evaluated the current motion capability (RoM, velocity, and force) of the patient and then calibrated the starting difficulty level of the game. The difficulty was progressively adjusted by the hand during the session, always within safe tolerances. In other words, with the aim of preventing any manual error by the therapist, the system constrained the game parameters to ranges that matched from half to the full current capacity of the patient according to the calibration. In particular, for FE, completion task time ttask was constrained up to 2tbase, maximum force intensity up to half of the tolerated force intensity (through the impedance gain Kp up to 1/2KpEX or 1/2KpFLEX), and RoMwork up to 1.2 RoMpatient. For PS, RoMwork was constrained up to 1.2 RoMpatient. Then, patients were invited to perform and were kindly instructed to concentrate and to express if they felt pain or discomfort during the exercising.
With the aim of aiding the therapist to manually individualise the physiotherapy by systematically incrementing the training demand levels, we implemented a model of the performance of the patients. For this purpose, a principal component analysis (PCA) was applied to the observed kinesiology information of patients. The model resulted in the linear combination of a performed range of motion, velocity, and tolerated exerted resistive force by the system (RoMperformed, Velocityperformed, and Forceperformed) for FE, while RoMperformed and Velocityperformed for PS. Then, for providing a prior estimation of performance, predictive regression models of normalised outcomes of RoM*performed and Velocity*performed for FE and PS and Force*performed for FE were developed, all regarding game input parameters, as follows:where xi is the ith input parameter among the p significant input variables (significant main factors) for the corresponding outcome, xj and xk correspond to significant interacting factors, and bn are constant values. Significant main factors and interactions over outcomes (RoMperformed, Velocityperformed, and Forceperformed) were identified through a series of multifactorial ANOVAs (MANOVAs). The MANOVA series followed a design of 3 target sequences x 3 levels of ttask x 3 levels of RoMwork x 3 levels of Forcework for FE movements, while 2 sequences x 3 RoMwork x 3 balls' number x 3 balls' speed x 3 balls' frequency for PS movements.
Finally, optimisation of the regression models was carried out over the training data set of 7 patients for PS and six patients for FE, while we used the data of 2 patients for PS and one patient for FE for model comparison and validation.
We applied an ad hoc designed questionnaire with eight items, all rated on a 7-point Likert scale (where 1 was the minimum, 7 the maximum, and 4 the neutral scores), for qualifying diverse perceived aspects regarding the confidence and acceptability of the system (Table 3). Six items assessed the usability and acceptance of the system: (1) How much the patients perceived it enjoyable (enjoy)? (2) How much difficult it was (difficult)? (3) How much exhausting they felt (fatigue)? (4) How much attention they paid (attention)? (5) How much physical pain patients felt in the affected limb during the exercises (pain)? (6) How much annoyed they felt during the exercises (annoyance)? Two extra items evaluated the embodiment sensation during the sessions, regarding two sensations: (1) the sense of ownership, which means how much they perceived that the virtual avatar was their own limb, and (2) the sense of agency that indicates how much they recognised that the movements and actions of the virtual avatar were caused by their own actions.
| null | Not supported with pagination yet
| null |
PMC9773983_01
|
Male
| 42
|
A 42-year-old man has no clear incentive to present an eating obstruction in July 2020. Symptoms worsen when hard and dry foods are consumed, accompanied by paroxysms of dull pain in the upper left abdomen, no chest tightness or pain, no nausea and vomiting, no hematemesis and melena, no fever and chills, and other discomfort. No history of autoimmune disease, no pneumonia, interstitial lung disease, no chronic obstructive pulmonary disease (COPD), denial of hepatitis B virus (HBV) or hepatitis C virus (HCV), human immunodeficiency virus (HIV) carrier, no recent vaccinations. He visited a local hospital on 13 August 2020. Gastroscopy revealed the lower esophagus, cardia and cardia by lumen narrowing, allowing endoscopy to pass through. There is a huge ulcer in the cardia. The nodules at the bottom are uneven and covered with dirt moss ( Figures 1A, B ). Biopsy pathology: poorly differentiated adenocarcinoma ( Figure 1C ). The patient came to our hospital for further diagnosis and treatment 17 August 2020. Contrast-enhanced Computed tomography (CT) of the cervicothoracic abdomen and pelvis demonstrated: cardiac cancer involving the esophagus and lesser curvature of stomach, with multiple lymph node metastasis; superior lobe metastasis of the left lung; hepatic metastasis ( Figures 1D-F ). Eastern Oncology Collaborative Group (EOCG): 1, the patients had poor economic foundation, but as the breadwinner of the family, the patients and their families had a strong desire for therapy.
After communication with the patient and comprehensive consideration, the patient requested to be enrolled in the "open-label study of AK104 (PD-1/CTLA-4 bispecific antibody)". Patients with unknown HER-2 status or negative results could be included in the group. He did not undergo HER-2 and PD-L1 tests at enrollment. Six cycles of AK104 + mXELOX/q14d (AK104 6 mg/kg d1+ oxaliplatin 85 mg/m2 d1 + capecitabine 1,000 mg/m2 d1-10/Q14d) were initiated on 27 August 2020. A partial response (PR) was assessed by CT after three and six cycles of treatment (primary foci and hepatic and lung metastatic lesions were markedly decreased). After the sixth treatment cycle, the patient showed symptoms of fatigue, wheezing after activity, palpitation, cough, phlegm, dry mouth, and loss of appetite. On 15 November 2020, general bacterial sputum culture and identification were performed. No bacteria associated with inflammation were identified. Detection of 13 respiratory pathogens: hemophilus influenzae positive. PCT: 0.10 ng/ml. Chest CT: multiple floc and patchy high-density shadows in both lungs, appearance of interstitial pneumonia ( Figure 2A ). He had not caught a cold recently and had no symptoms of fever. In addition, symptoms and additional examinations were combined to rule out the virus/bacterial pneumonia, considering the possibility of immune pneumonia. Antitumor therapy was interrupted, methylprednisolone sodium succinate (MPSS) 80 mg iv drip for 5 days, oral prednisone acetate tablets (taper off), and the patient's symptoms were markedly improved. A CT scan performed on 28 December 2020 showed that the pneumonia was better than before, and the lung metastatic lesions continued PR ( Figure 2B ).
A cycle of oxaliplatin 85 mg/m2 d1 + capecitabine 1,000 mg/m2 d1-10/Q14d 1 cycle was initiated on 14 January 2021. AK104 6 mg/kg d1 + capecitabine 1,000 mg/m2 d1-10/Q14d regimen maintenance treatment commenced on 4 February 2021. During the CT evaluation, his condition was sustained at PR on 2 September 2021 monitoring of liver function: ALT 173.7 U/L and AST 148.4 U/L ( Figure 2C ). We delivered liver preservation therapy and, on 3 September 2021, retest liver function: ALT 189.0 U/L and AST 114.8 U/L. At this time, oxaliplatin had been discontinued for 7 months, so it was considered that liver damage was likely to be related to immunity. We gave MPSS 1 mg/kg combined with liver protection and gallbladder therapy to improve the liver function test on 14 September 2021: ALT 69.4 U/L and AST 26.5 U/L. Then the patient was treated at home with oral prednisone, and liver function returned to normal after regular review. 5 October 2021: ALT 650.4 U/L, AST 499.6 U/L, TBil 35 umol/L, DBil 23.1 umol/L, I-Bil 11.9 umol/L. Incorporating the patient's symptoms and hematologic findings, we diagnosed grade 3 immune-mediated hepatitis. MPSS 2 mg/kg combined with liver protection and gallbladder treatment was used to improve immune hepatitis. 14 October 2021: ALT 153.6 U/L, AST 35.2 U/L. 18 October 2021: ALT 171.3 U/L, AST 41.2 U/L. Considering corticosteroid resistance in patients, we treated them with the incorporation of mycophenolate mofetil. 25 October 2021: ALT 84.7 U/L , AST 18.2 U/L, TBil 17.3 umol/L , DBil 7.3 umol/L. The patient is getting better right now. Nevertheless, the patient was excluded from the clinical study due to the long-term absence of medication. Antitumor therapy was also discontinued in view of the adverse immune response of the patient. The patient did not receive subsequent immune antitumor therapy, and immune-related hepatitis still occurred intermittently, but the disease evaluation was maintained at PR. CR was confirmed by FDG-PET and the biopsy specimen from gastroscopy on 10 June 2020 ( Figures 3A-I ). Next-generation sequencing (NGS)-Geneseeq PRIME (425-Cancer Gene Panel) of first biopsy tissue to guide subsequent therapy at a recent follow-up visit. The results indicated that TP53, JAK3, JARID2, CDKN2C, GREM1, EMSY, ERBB2 mutations; copy number 58.4934 (ERBB2), 15.158 (CCNE1); structural variation (ERBB2, CDK12); tumor mutational burden (TMB) = 3.1, microsatellite stability (MSS) ( Figure 4A , Supplementary Figure S1 ). Immunohistochemistry (IHC): EBV (-), PD-L1 CPS = 3, HER-2 (3+) ( Figures 4B-D ).
|
ak104/cadonilimab, her-2 positive, pd-1/ctla-4 bispecific, advanced gastroesophageal junction cancer, complete response
| Not supported with pagination yet
| null |
PMC9755882_01
|
Female
| 41
|
We present the case of a 41-year-old premenopausal woman not harboring pathogenic germline BRCA mutation who was diagnosed in 2009, at the age of 29, with an early stage, HR+/HER2- BC. She underwent radical surgery, taxane-anthracycline based adjuvant chemotherapy and adjuvant ET with ovarian function suppression (OFS) and tamoxifen for 5 years.
In July 2015, less than 1 year after finishing endocrine treatment, a histological HR+/HER2- proven bone relapse was diagnosed. Endocrine first palliative line treatment with OFS and an aromatase inhibitor (AI) was started, achieving a 26-month period of disease control and then, new bone and liver metastases were observed. Second ET line with Palbociclib, OFS and Fulvestrant was started obtaining a clinical benefit and a 9 month progression free survival (PFS). PIK3CA status at this time revealed a PIK3CA-wild type bone recurrence, so she started a third ET line with exemestane plus everolimus and OFS for 11 months. A subsequent line of abemaciclib, tamoxifen and OFS was started, obtaining 13 months of disease control.
A comprehensive genomic profiling, using the Foundation Medicine platform was performed in order to look for actionable targets, and a BRAF p.V600E mutation was found. The patient refused to undertake chemotherapy due to potential side effects and was eager to explore other options; so, once discussed in our institution molecular board and adequately explained to the patient the current evidence of tyrosine kinase therapy in BC, she agreed to start an off-label treatment targeting BRAF pathway. The combination of dabrafenib 150mg every 12 hours and trametinib 2mg daily was initiated in March, 2021.
The treatment related adverse events (trAEs) were similar to those reported in previous studies: with grade 2 nausea and pyrexia as the main toxicities after 10 days of treatment, which lead to temporary treatment discontinuation. As grade 2 pyrexia recurred and persisted after restarting therapy, the doses of both drugs were lowered to dabrafenib 100 mg every 12 hours and trametinib 1.5 mg daily, with no new trAEs in the following months.
First imaging reevaluation was performed in June, 2021 using a CT-PET scan that showed hepatic and bone complete response ( Figures 1 , 2 ). The patient experienced clinical benefit and no further significant toxicity, maintaining her quality of life, until December 2021, when bone progression was documented. Therefore, a PFS of 9 months was achieved with excellent performance status during treatment.
Since the beginning of treatment, the patient has been monitored by liquid biopsy, studying blood-circulating DNA harboring BRAF V600E mutation (ctBRAF). Blood was collected in EDTA tubes at 4 initiating time points, and plasma was processed before one hour after extraction. BRAF V600E mutation in plasma was evaluated by Idylla ctBRAF Mutation assay (Biocartis ) ( Figure 3 ). Mutant allele frequency (MAF) of 16.9% was detected before start the dabrafenib/trametinib treatment. In a second time point (+8 days of treatment), mutation was reduced to 6.7%, which could suggest a benefit of this treatment. During temporary treatment discontinuation by trAEs, the liquid biopsy showed an increase of mutation frequency (MAF of 13.3%). Lastly, mutation was undetectable in plasma after 43 days after the beginning of the treatment, and maintained until disease progression was observed and a slight elevation of MAF to 0.1% was documented in December 2021.
|
braf, escat, hr+, advanced breast cancer, case report, dabrafenib, trametinib
| Not supported with pagination yet
| null |
PMC6304620_01
|
Female
| 63
|
A 63-year-old woman with no significant medical history was referred to our hospital for further investigation of elevated liver enzyme levels and thrombocytopenia. The patient had a few days' history of general malaise and purpura of her legs. She had no fever or any abdominal complaints. She had a history of alcohol intake of about 40 g/day and no constant drug use.
Her vital signs were stable and physical findings were normal except for jaundice and purpura of her legs. The laboratory findings were as follows: total bilirubin, 8.8 mg/dL; aspartate aminotransferase (AST), 1,767 U/L; alanine aminotransferase (ALT), 1,845 U/L; gamma-glutamyl transpeptidase, 2,229 U/L; alkaline phosphatase (ALP), 845 U/L; immunoglobulin G (IgG), 2,042 mg/dl; anti-nuclear antibody (ANA) titer, positive at 80-fold dilution; platelet count, 22,000/muL; platelet-associated IgG (PAIgG), 208 ng/10 7 cells. Serologic markers for hepatitis A, B, C, and E viruses, and Epstein-Barr virus, cytomegalovirus, varicella zoster virus, and herpes simplex virus were all negative, and anti-Helicobacter pylori (H. pylori) IgG was positive (Table 1). Abdominal ultrasonography and enhanced computed tomography revealed no significant biliary tract disease that could have led to liver damage.
According to the criteria of the International Autoimmune Hepatitis Scoring System, the patient's pretreatment clinical score without histology was 13 (female: +2; ALP/ALT ratio: +2; IgG level: +1; ANA titer: +2, antimitochondrial antibody: 0; viral markers: +3; drugs: +1; alcohol: 0; immune disease: +2), indicating probable AIH. Her severe thrombocytopenia was considered to be due to concomitant ITP because of her clinical and laboratory findings.
Liver biopsy via the transjugular route (TJLB) was selected to confirm the diagnosis of AIH to avoid the risk of hemorrhage after percutaneous liver biopsy (PLB) in a patient with severe thrombocytopenia. The right internal jugular vein was punctured after administering local anesthesia, and a 5-Fr catheter cannulated into the right hepatic vein (RHV) over the guide wire. A venogram was performed to confirm the position of the catheter in the RHV (Figure 1(a)). The catheter was then exchanged for a transjugular liver access and biopsy set catheter (Cook Medical, Bloomington, IN). Five liver biopsy specimens were obtained. All steps were performed using X-ray fluoroscopy to confirm the location of the guide wire or catheter. A postbiopsy venogram revealed no complications, including intraperitoneal hemorrhage (Figure 1(b)). Manual compression of the access site on her neck was applied from catheter removal until hemostasis was achieved.
The histological findings of liver biopsy showed interface hepatitis and moderate to severe inflammatory infiltrates including lymphocytes and plasma cells. Moderate fibrosis in the portal area and partial destruction of the hepatic lobules with partial piecemeal necrosis was also observed (Figures 2(a), 2(b), 2(c), and 2(d)). All these pathological findings were compatible with the diagnosis of AIH, and the postbiopsy score was 17, thereby confirming the diagnosis of AIH. Bone marrow aspiration revealed a normal nucleated cell count and a slight increase in megakaryocytes, suggestive of ITP (Figure 3). She received an intravenous glycyrrhizin-containing herbal medicine, Stronger Neo-Minophagen C (SNMC; Minophagen Pharmaceutical, Tokyo, Japan) at 60 ml/day before TJLB, and prednisolone (PSL) at 55 mg/day (0.8 mg/kg/day) after the histological diagnosis of AIH. After PSL administration, the patient demonstrated a good response with restored liver enzyme levels and platelet counts (Figure 4). PSL was tapered to 5 mg/day as a maintenance dose. The patient recovered uneventfully except for a hyperglycemic event requiring insulin treatment.
| null | Not supported with pagination yet
| null |
PMC6358385_01
|
Female
| 11
|
An 11-year-old girl was admitted to Chengdu Women and Children's Central Hospital due to an 8-month history of cough and 2 episodes of mild to moderate hemoptysis (100-200 mL of blood loss over 24 hours). Her cough was occasional and dry at first, but later it became more frequent and productive, without fever, chest pain, wheezing, or dyspnea. She received a 7-day course of amoxicillin and clavulanate potassium for pulmonary infection in a local hospital. Unfortunately, she responded poorly to the treatment. The second episode of hemoptysis had occurred 2 days before admission to our hospital, after which she was referred to us for treatment.
It is noteworthy that the girl had been full-term at birth, healthy, and without tuberculosis or measles.
At the time of admission, the patient was not febrile, and had a respiratory rate of 21 breaths/min, heart rate of 90 beats/min, blood pressure of 101/71 mmHg, and oxygen saturation of 98% in ambient air. The breath sounds were harsh and neither rales nor wheezing were heard. The results of other physical examinations were unremarkable.
The white blood cell count was 6.79 x 109/mL, with 69.7% neutrophils, and the hemoglobin level and platelet count were 116 g/L and 381 x 109/mL, respectively. The results of biochemical tests were normal. Tuberculin skin test (TST) was negative.
Serum test for anti-mycoplasma pneumoniae antibodies yielded positive results, with a titer of 1:160. Other pathogens including common respiratory viruses and tuberculosis bacteria were not found.
Chest computed tomography revealed pneumonia and a lung abscess was suspected in the lower lobe of the left lung (Fig. 1). Pulmonary contrast-enhanced CT revealed a dense, cuneate shadow in the left lower lobe with a multiple-capsule shape, and the left lower lobe bronchus was significantly narrow. These were speculated to be congenital malformations (Fig. 2A and B).
Subsequently, the patient underwent bronchoscopy. The diameter of the left bronchus was found to be reduced and a previous pulmonary hemorrhage was observed (Fig. 3). The patient then underwent surgical resection of the left lower pulmonary lobe. Gross pathologic examination of the lung tissue revealed dilation of the bronchia and blood vessels (Fig. 4A and B).
In a part of the lung tissue, the bronchia and alveoli were stunted and bronchiectasic. Chronic inflammation of the bronchia had invaded the alveoli with acute episodes, and some of the alveoli were fractured and fused. Hemorrhage and fibrinoid exudation were observed on the pathologic slice (Fig. 5A and B).
The girl recovered favorably after the operation, without any complications. The hemoptysis was controlled and the cough disappeared after surgery. At a follow-up visit in January 2018, we performed a chest x-ray examination, and the results were normal (Fig. 6).
| null | Not supported with pagination yet
| null |
PMC3757002_01
|
Female
| 16
|
A Han Chinese MO family was investigated in this study (Fig. 1a). The proband (MO1) was a 16-year-old girl suffering from multiple exostoses involving humerus, femur, tibia and fibula (Fig. 1b-c). A group of 200 unrelated healthy subjects, matched for geographical ancestry, were included as controls. Clinical data of each subject was recorded by nurse-administered questionnaires. Each participant underwent careful clinical and computed radiography examination of long bones, truncal and acral joints by two or more experienced orthopedic experts. MO was diagnosed as multiple exostoses, arising from the lateral ends of humerus, ulna, femur, tibiae, fibulae or knee joints. 5 ml EDTA anticoagulated peripheral blood was drawn from 6 family members (Table 1) and from the 200 healthy subjects. Intact chondroma tissues were derived from MO1 and from a patient with extragenetic solitary chondroma (male, aged 3 years) via surgical resection. The collected chondroma tissues were immediately stored in 4% paraformaldehyde solution. This study was approved by the Institutional Review Board (IRB) of Xi'an Jiaotong University. All study subjects or their respective guardians gave their informed written consent by signing a document that had been carefully reviewed by the IRB of Xi'an Jiaotong University.
Genomic DNA was extracted from 5 ml peripheral blood, using E.Z.N.A Blood DNA Midi Kit (Omega Bio-tek, Norcross, USA), according to the manufacturer's protocol. For exome sequencing, 15 microg of extracted DNA was randomly sheared into 250-300 bp fragment libraries by sonication. The purified DNA fragment libraries were captured by NimbleGen 2.1 M capture array (Roche NimbleGen, Madison, USA), followed by 90 bp paired-end sequencing on a Hiseq2000 platform (Illumina, San Diego, USA), according to the manufacturer's protocol.
The raw image files of exome sequencing were processed using Illumina Pipeline software (version 1.7) for base calling. The sequences of each subject were generated as 90 bp pair-end reads. SOAPaligner software (http://soap.genomics.org.cn/index.html) was used to align clean reads to the UCSC human reference genome (version hg19, build 37.1, http://genome.ucsc.edu/). Based on SOAPaligner alignment results, SOAPsnp software (http://soap.genomics.org.cn/index.html) was used for SNP calling. BWA software (http://bio-bwa.sourceforge.net/) was used to identify insertions and deletions (indels) in targeted regions by aligning sequencing reads to the UCSC human reference genome. Low-quality SNP calls and indels were filtered out using the following criteria described previously: 1)consensus quality score >=20; 2) sequencing depth >=4 and <=500; 3) copy number <=2; 4) distance between two adjacent SNPs >=5 bp. Given that common genetic variations were unlikely to be the causal mutations of MO, all identified SNPs and indels were further filtered against the exome data of 30 Chinese Han individuals from the 1000 Genome Project (ftp://www.1000genome.org) and Chinese Han SNP data available in the dbSNP database (http://www.ncbi.nlm.nih.gov/project/SNP/, build 132). SIFT software (version 4.0, http://sift.jcvi.org/) was used to evaluate the impact of amino acid substitution on protein function and synonymous mutations were removed. Missense mutations and frame-shifting indels that were shared by the two affected family members undergoing exome sequencing, were retained as candidate causal mutations for following study.
Sanger sequencing validation was performed in all 6 MO family members (MO1-6) to determine whether the candidate mutations, identified by exome sequencing, co-segregated with MO in the MO family. The population frequencies of the candidate mutations co-segregated with MO were further estimated by Sanger sequencing of 200 unrelated controls with matched geographical ancestry. Sanger sequencing was performed using the standard protocol. Primers used for Sanger sequencing were designed with Primer3 software (http://frodo.wi.mit.edu/).
The paraformaldehyde-fixed chondroma tissues from the MO patient and the extragenetic solitary chondroma patient were rinsed with phosphate buffered saline (PBS), decalcified and embedded in paraffin. Paraffin-embedded chondroma tissues were sectioned (5~8 microm thick), and placed on glass slides. For histochemistry, the tissue slides of MO were dewaxed in xylene, hydrated with graded ethanol, and stained by hematoxylin-eosin (HE), Safranin O (SO) and Toluidine Blue (TB), respectively.
For immunohistochemisty, the dewaxed and hydrated chondroma sections of MO and extragenetic solitary chondroma, were treated with 3% hydrogen peroxide solution for 10 min, rinsed with PBS, and incubated with rabbit polyclonal anti-EXT1 antibody (1:50 working dilution, abcam plc, MA, UK) at 4 C overnight. The chondroma sections were then incubated with secondary antibody (ZHONGSHAN golden bridge biotechnology, China) at 37 C for 15 min, exposed to Streptavidin-Horseradish Peroxidase at 37 C for 15 min, and stained with DAB substrate kit (Vector Laboratories, Burlingame, CA) and Meyer hematoxylin.
| null | Not supported with pagination yet
| null |
PMC7396821_01
|
Female
| 55
|
Our patient was a 55 years-old postmenopausal woman. She came to the gynecology department with complaints of bearing down and vulvar itching.
About her life style, it was a single woman working as home help and smoking 8-10 cigarettes per day. She weighted 41 kg and measured 1,58 m.
There was no notion of tuberculosis contact. She travelled only in Tunisia (last trip in 2012).
|
extrapulmonary tuberculosis, genital tuberculosis, tubal infertility, vaginal tuberculosis
| Not supported with pagination yet
| null |
PMC7396821_02
|
Female
| 51
|
In her medical background we found a bifid kidney, a hysterectomy in 2016 (for fibroma), 1 delivery in 1993 and 2 abortions. Her first periods appeared at 12 and her menopause at 51 years old. The last Pap smear, done in 2016, was normal.
During the interrogation, she reported an alteration of the general condition (weightloss, asthenia) associated with cough and serous sputum since 1 or 2 years. She also suffered from pelvic pain, vulvar itching or burning, vaginal discharges, urinary frequency and burning.
The global examination (neurological, cardiological, pulmonary, breast and abdominal) was normal. At the pelvic floor, vulva seemed intact but the anterior surface of vagina and cervix was inflammatory. We practiced a Pap smear and vaginal biopsies.
The vaginal touch revealed an indurated and painful mass (Fig. 1). There was one inguinal lymph node palpable.
Concerning complementary exams: the pap smear was normal and vaginal biopsies revealed ulcerative cervicitis lesions with partially necrotizing gigantocellular epihtelioid granuloma. There was no atypical or dysplastic lesions associated (Fig. 2).
Please note that in our case, the diagnostic had probably been delayed because the operative report of hysterectomy in 2016 mentioned a non-necrotizing gigantocellular epihtelioid granuloma, evoking sarcoidosis in the first place.
Search for BK by culture and PCR was positive on vaginal biopsies and urinary sample; it reveled a Mycobacterium of the tuberculosis complex.
We searched for a pulmonary damage associated: direct examinations on sputum, gastric tubage and bronchoalvelar lavage were negative. During the bronchial fibroscopy, we did not see any ENT chain or bronchial tree abnormalities.
The biological checkup was normal except a minim inflammatory syndrome (CRP at 35 mg/L and leucocytes at 10,6 G/L). ELISPOT test was positive unlike HIV, HCV and HBV test.
Extension had been assessed using a TAP scanner: it revealed a right lobar mass with spicules, multiples bilateral micronodules, diffuse emphysema and a thickening of the interlobular septa (Fig. 3). There was no anomaly on the pelvic floor.
The treatment of our patient had been sequential with: 5 weeks of quadritherapy (Isoniazid 50mg*4/day + Rifampicin 120mg*4/day + Pyrazinamide 300mg*4/day + Ethambutol 500 mg/day); then 5 weeks of tritherapy (same doses without ethambutol - stopped because we suspected a peripheral neuropathy); and lastly 4 months of bitherapy (Isoniazid 50mg*2/day + Rifampicin 120mg*2/day).
After 3 months of treatment, we noted a normalization of the gynecologic examination with regression of the vaginal mass. In the same time, a new scanner has been done to control the lung lesion: we found a progression of the right lobar mass. Biopsy revealed an adenocarcinoma, treated by surgery - radiotherapy and chemotherapy.
|
extrapulmonary tuberculosis, genital tuberculosis, tubal infertility, vaginal tuberculosis
| Not supported with pagination yet
| null |
PMC8131984_01
|
Male
| 59
|
In December 2016, a 59-year-old man who had suffered from headaches, slowdown in speech, inability to walk, and weakness was admitted to the hospital. On examination, his body temperature was 37.2 C, with blood pressure 140/80 mmHg, a heart rate 84 beats/min, and respiratory rate 24 breaths/min. His neurological and fundoscopic examination were normal. Cranial MRI revealed bilateral cerebral-cerebellar multiple millimetric gliotic lesions and leptomeningeal enhancement. Based on the radiological appearance, infectious pathologies, lymphoma, or vasculitis were considered presumptively in the differential diagnosis (Fig. 1A). Lumbar puncture (LP) was performed, and the appearance of cerebrospinal fluid (CSF) was clear. The other CSF findings were as follows; the opening pressure (OP) of 19 cmH2O, total leucocyte count (TLC) of 302/muL (polymorphonuclear 5%, lymphomononuclear 95 %), protein 113 mg/dL, glucose 30 mg/dL, and simultaneous blood glucose level 147 mg/dL. CSF lymphoma, paraneoplastic panel, Mycobacterium tuberculosis PCR and Cryptococcus neoformans with India ink were all negative. The acute ischemic cerebrovascular event was determined by cranial MR imaging and acetylsalicylic acid was ordered (Fig. 1B). The patient's clinical condition slightly improved day by day, but his headache did not remit.
Eight months later, the patient presented with a slowdown in speech, sleepiness, and weakness. His neurological examination was unremarkable except for dysarthria and inability to walk. For the stroke etiology, we re-evaluated the cardiac source and large vessel occlusion, but we found all these sources in the normal range. Cerebral digital subtraction angiography was performed and left anterior cerebral artery segment A1, and right posterior cerebral artery segment P1 was reported as hypoplastic. Based on the acute multiple ischemic lesions in diffusion-weighted imaging and the clinical status of the patient, the vasculitis was presumptively diagnosed. Therefore, seven days of pulse steroid and one-day of cyclophosphamide treatments were given. The next day, fever was detected as 38.1 C without headache and neck stiffness. We performed lumbar puncture (LP) which revealed an increased OP of 23 cmH2O, with leucocyte count of 193 u L (polymorphonuclear 67 %, lymphomononuclear 32 %), protein 313 mg/dL, glucose 11 mg/dL, simultaneous blood glucose 101 mg/dL and therapeutic CSF drainage was performed due to high OP. Biofire Film Array Meningitis/Encephalitis panel was positive for Cryptococcus neoformans/gattii. On microscopic examination of CSF, cryptococcus-like encapsulated yeasts were demonstrated with India ink (Fig. 2).
Liposomal amphotericin B (AmB) 5 mg/kg and fluconazole 800 mg/day were started immediately (flucytosine was not available in Turkey). Seven days later Cryptococcus neoformans was grown in CSF culture. A thorax tomography revealed no evidence of lung disease suggesting pulmonary cryptococcosis. The lesions in the previously performed cranial imaging were interpreted as cryptococcoma (Fig. 1C). The patient had not any known immune-suppressive disease or well-known risk factors for cryptococcosis. At the beginning of his hospitalization, a pulse steroid and cyclophosphamide were given with the suspicion of CNS vasculitis. HIV testing was negative and CD4 count was found in normal range for twice (1004-33% and 630-31%, respectively). On day 17 of treatment, LP was repeated and C.neoformans/gattii was positive in the Biofire FilmArray meningitis panel but yeast culture was negative. His clinical condition of the patient was improved partially after twenty days with consciousness, ability of walking, and speaking improving. At the end of six weeks of AmB treatment, it was withdrawn, and the patient was discharged with fluconazole for maintenance treatment.
Two weeks later, while the patient was taking 800 mg/day fluconazole, he presented with a deterioration of the general condition, confusion, aphasia. Cranial MRI was performed and the triventricular hydrocephaly was detected (Fig. 1E). Antiedema treatment was started and flucytosine was supplied. The antifungal treatment was started over again with flucytosine and AmB. Eight weeks later, induction treatment was stopped and switched to fluconazole. Fluconazole was given fifteen months totally for maintenance and consolidation therapy. His clinical condition was improved completely, and cranial imaging showed regression of previous lesions (Fig. 1F). After 8 months of finishing antifungal drugs, his condition was good and stable without any neurological findings or symptoms.
|
cerebral infarct, cryptococcus neoformans, film array, hydrocephalus
| Not supported with pagination yet
| null |
PMC6118332_01
|
Male
| 66
|
The patient was a 66-year-old man who was diagnosed with LARC in the upper middle rectum (T4aN1M0, stage IIIB). He had a 13-year history of liver cirrhosis after contracting hepatitis B and exhibited symptoms of hypersplenism, including thrombocytopenia and leukopenia. No spontaneous bleeding events had happened in the past 10 years. Given the high risk of severe complications, radical surgery, chemotherapy, or targeted therapy could not be performed. However, the patient and his family had a strong desire for treatment and came to our radiotherapy department in October 2017, requesting that radiotherapy be attempted.
The test results before radiotherapy were as follows: A routine blood test of the patient on October 26, 2017, showed that his platelet count was 32 x 109/L, white blood cell (WBC) count was 3.79 x 109/L, and red blood cell (RBC) count was 3.57 x 1012/L; meanwhile, blood coagulation function was in the normal range (prothrombin time [PT], 13.7 seconds; activated partial thromboplastin time [APTT], 39.1 seconds; thrombin time [TT], 16.60 seconds; international normalized ratio [INR], 1.06). His hepatitis B was in a stable condition (HBsAg(+), HBsAb(-), HBeAg(-), HBeAb(-), and HBcAb(+)), and no hepatitis C virus (HCV) infection was detected (HCVAb(-)). Liver function was Child-Pugh class A (no hepatic encephalopathy; no ascites; total bilirubin [TBIL], 21.9 micromol/L; albumin (ALB), 38.9 g/L; PT prolong, <3 seconds). An ultrasound test of the liver revealed a normal size with rough surface and blunt border; intrahepatic echogenicity was enhanced, with scattering echoless points in the right lobe; and the hepatic vein was circuitous, with a rough wall. The volume of the spleen was abnormally large: 13.8 cm in length and 5.3 cm in thickness. An imaging examination of the patient showed no bone metastasis of the tumor. Moreover, the patient had shown no symptoms of spontaneous bleeding, such as petechiae or errhysis, in the past 10 years. The doctors involved had a comprehensive discussion about the patient's condition with his family, informing them that blood transfusions and supporting therapy would be required and that there would be a risk involved in the process of radiotherapy. A routine blood test on October 30, 2017, showed that his platelet count was 32 x 109/L, WBC count was 4.03 x 109/L, and RBC count was 3.65 x 1012/L. A pelvic-abdominal computed tomography (CT) simulation with intravenous injection contrast was obtained in the supine position. The high-risk clinical target volume (CTV-HR) included the entire mesorectum and presacral region at involved levels, with a 2-cm sup/inf margin on the gross tumor volume (GTV). The standard risk CTV (CTV-SR) covered the elective node subsites, depending on the tumor stage and location, including presacral space, mesorectum, posterior lateral lymph nodes, and anterior lateral lymph nodes of this patient. The planning target volume (PTV) of CTV-SR is generated by three-dimensional expanding CTV-SR with 1-cm margin plus in the sup/inf directions and 0.7-cm margin plus in the anterior/posterior/right/left directions. Volumetric modulated arc therapy (VMAT) radiation with 50 Gy in 25 fractions was planned for PTV delivery. After that, a CTV-HR boost above 54 Gy (final total dose) was planned since the patient was unable to undergo surgery. The CTV-HR and CTV-SR are shown in Figure 1. The patient started the first treatment on October 31, 2017. We paid close attention to platelet count changes during the treatment process. On November 3, 2017, his platelet count was 30 x 109/L (WBC, 3.38 x 109/L; RBC, 3.48 x 109/L), and this had decreased to 25 x 109/L on November 7, 2017 (WBC, 3.31 x 109/L; RBC, 3.46 x 109/L). Since the platelet count decline was obvious, we recommended the injection of thrombopoietin (TPO; 3Sbio Inc., Shenyang, Liaoning, China). However, the cost of this treatment was prohibitively high for the patient. Taking into account these factors, we instead chose subcutaneous injections of 3 mg recombinant human interleukin 11 (IL-11; Qilu Pharmaceutical, Jinan, Shandong, China) per day, starting on November 7, 2017, and continuing for 5 days. On November 9, 2017, the platelet count decreased to 16 x 109/L, WBC count was 3.08 x 109/L, RBC count was 2.99 x 1012/L, and the patient showed no signs of abnormal bleeding. At that time, he had received 2 Gy x 7 fractions of radiotherapy on PTV (from October 31, 2017, to November 3, 2017, and from November 6, 2017, to November 8, 2017), and the treatment was discontinued. He then underwent 1 U platelet transfusions on November 9 and 11, 2017. After that, his platelet count was 27 x 109/L on November 10, 2017, and 19 x 109/L on November 11, 2017. The number stabilized at 24-25 x 109/L during the following 5 days, but decreased to 22 x 109/L on November 17, 2017, and then remained at about 20 x 109/L for 3 days and failed to reach the previous levels. The counts of WBC and RBC showed no significant changes. Blood cell changes during treatment are shown in Figure 2. The patient and his family were informed that the radiotherapy might be continued if his platelet count could be maintained by platelet transfusion, but they finally decided to abandon the treatment.
A written informed consent has been provided by this patient to have the case details published.
|
liver cirrhosis, radiotherapy, rectal cancer, thrombocytopenia
| Not supported with pagination yet
| null |
PMC6077511_01
|
Male
| 35
|
A 35-year-old male presented to the emergency department after a tonic-clonic seizure. There was no significant past medical or surgical history. His physical examination was unremarkable, with no fever or focal neurological signs. In the previous 6 months, he reported anorexia and unintentional weight loss of 8 kg, with no other constitutional signs or symptoms. Brain MRI disclosed three ring-enhancing T1 and T2 hypointense cortical lesions, two located in the right frontal lobe and one in the left occipital lobe, associated with vasogenic oedema and absent leptomeningeal enhancement (Figure 1). Based on the imagiological findings, infectious abscesses and metastatic deposits were considered the most probable etiologies. In subsequent diagnostic workup, abdominal CT revealed massive mesenteric infiltration and innumerous lymphadenopathies; therefore neoplastic peritoneal carcinomatosis was first considered. Chest CT and further radiological examination were unremarkable, excluding other organs involved.
Histological examination of the mesenteric lesions revealed multiple noncaseating perivascular granulomas (Figure 2). The polymerase chain reaction (PCR) performed in the tissue specimen was positive for Mycobacterium tuberculosis, thus confirming the diagnosis of disseminated tuberculosis of CNS and peritoneum. Extensive laboratory workup for underlying acquired or hereditary immunosuppression was negative, including human immunodeficiency virus testing, immunoglobulin levels, and lymphocyte subset counts. Acid fast bacilli smear, cultures and PCR from sputum, CSF, and blood were negative. The patient was started on tuberculostatic treatment with adjunctive corticosteroids, in a four-drug regimen during the first two months, followed by additional two-drug regimen in the subsequent eight months. He had a favorable outcome, with complete regression of both cerebral and peritoneal lesions.
| null | Not supported with pagination yet
| null |
PMC5991906_01
|
Female
| 76
|
This is the case of a 76 year-old, non-smoking Honduran female with history of diabetes who was referred to our pulmonary clinic for years of persistent dry cough and non-exertional chest discomfort. Prior cardiac evaluation was unremarkable. She was treated with antibiotics by her primary care physician, which did not improve her symptoms. She did not use an angiotensin-converting enzyme inhibitor and denied symptoms of gastroesophageal reflux, allergic rhinitis, and there was no personal or family history of asthma. Her lung exam demonstrated wheezing heard over the right mid-posterior chest. Pulmonary function testing was inconclusive on multiple occasions, as she was unable to perform the required maneuvers due to excessive cough. Posterior-anterior and lateral chest radiographs demonstrated reticular thickening at the right major fissure and are shown in Fig. 1, Fig. 2. A non-contrast computed tomography (CT) scan (Fig. 3) demonstrated multiple sub-centimeter nodules, right middle lobe and lingular segmental bronchial narrowing with bibasilar atelectasis and mild interlobular septal thickening. A contrast-enhanced chest CT (Fig. 4) followed which further demonstrated distinct, enlarged mediastinal adenopathy. The differential diagnosis was broad, but it included systemic inflammatory conditions such as sarcoidosis, infections such as endobronchial tuberculosis, endemic mycosis infection and malignancy such as lymphoma and bronchogenic carcinoma. She underwent elective bronchoscopy, which showed diffuse airway mucosal hyperpigmentation and right upper lobe multi-segmental narrowing, right middle lobe medial segmental narrowing and lingular multi-segmental narrowing (Fig. 5). Endobronchial ultrasound (EBUS) demonstrated enlarged mediastinal lymph nodes, and transbronchial needle aspirates were taken at multiple stations. Sampling revealed necrotic tissue with black anthracotic pigment both grossly and microscopically (Fig. 6). Acid-fast-staining and cultures of samples were negative, though serum interferon gamma release assay was positive. Post-procedurally, the patient revealed her regular use of a wood stove in an enclosed, poorly-ventilated kitchen while a resident of Honduras for more than 40 years. She declined treatment for latent tuberculosis.
| null | Not supported with pagination yet
| null |
PMC6670196_01
|
Female
| 34
|
This patient is a 34-year-old non-obese Ethiopian P0 who presented for care after prolonged (5-6 years) secondary amenorrhea and infertility. She had no past medical history. Past surgical history significant for a myomectomy with Pfannenstiel incision in 2009 in Ethiopia for subserosal fibroids. She immigrated to the United States in 2010. In terms of family history, the patient's older sister had positive TB 20 years ago, for which her sister was treated. No one else in the family was treated for TB. A work up was completed for secondary amenorrhea. At this time there was no evidence of adhesions. A hormonal evaluation was obtained and she was worked up for amenorrhea as well as routine infertility labs, including TSH, prolactin, FSH, LH, AMH and estradiol to assess the entire axis. There was a low ovarian reserve based on AMH (0.61), however the normal values of FSH, LH, estradiol and progesterone levels suggested recent ovulation therefore leaning to more of a uterine pathology. On ultrasonography, the uterus measured 7.5 x 3.5 x 6.2 cm with an unremarkable myometrium. The endometrial stripe measured 4 mm and was noted to be uniform. A hysterosalpingogram performed at age 29 demonstrated no opacification of the left fallopian tube and no intraperitoneal free spill from the right fallopian tube, suggesting occlusion. In November of 2017, the patient underwent a diagnostic hysteroscopy, with findings of mottled endometrium particularly near the right ostia across the fundus. (See Fig. 1). Endometrial curretings from this procedure were collected and sent for TB testing. The pathology from this demonstrated necrotizing granulomas with acid-fast bacilli positive and culture positive for Mycobacterium tuberculosis. A chest x-ray was performed but was negative for any radiographic evidence of active pulmonary TB.
At this time, the patient was started on 2-month course of 4-drug Rifampin, Isoniazid, Pyrazinamide, and Ethambutol (RIPE) therapy followed by 4 months of rifampin and isoniazid. After 6 total months of treatment, the patient returned for a repeat endometrial biopsy. Results from this biopsy demonstrated positive acid-fast bacilli on Kinyoun stain but the cultures did not grow. Per an Infectious Disease consult, the patient was continued on rifampin and isoniazid for an additional 3 months. A second endometrial biopsy was performed in September 2018, which returned culture negative and acid-fast bacilli negative. The patient is currently undergoing treatment an estrogen-priming protocol to attempt to regrow endometrium, and at this point she has begun to have slow return of cyclic spotting after 2 cycles. It remains to be seen if this patient will have potential for future fertility.
|
asherman’s syndrome, infertility, intrauterine adhesions, tuberculosis
| Not supported with pagination yet
| null |
PMC2799965_01
|
Female
| 25
|
A 25-year-old woman arrived at our hospital citing fever and chills for 2 days. She also complained of a productive cough, night sweats, and general weakness for several weeks. She had been treated as if she had pulmonary tuberculosis (TB) three times previously, 17, 12, and 5 years earlier. Although the results from the mycobacterial studies of the first two episodes of TB were not available, the anti-TB treatments for the first and second episodes of TB had each continued for 6 months, and she reported that she took every medication as scheduled. Five years ago, she was diagnosed as having recurrent pulmonary TB based on an acid-fast staining of sputum. A mycobacterial culture was not performed. Treatment with isoniazid, rifampicin, ethambutol, and pyrazinamide was again started. However, the regimen was transiently changed to non-hepatotoxic drugs, including ethambutol, streptomycin, and cycloserine. She experienced several adverse drug effects: pancytopenia of rifampicin, ototoxicity of streptomycin, and neurotoxicity of cycloserine.
On admission to our hospital, her vitals were as follows: blood pressure, 110/50 mmHg; body temperature, 38.4C; pulse rate, 126 bpm; and respiration rate, 20 breaths per minute. A physical examination revealed crackles in both lower lobes and inspiratory wheezing in the right middle lobe and the left upper lobe, and there was no scarring indicating a BCG vaccination on either arm. A chest roentgenogram showed air space consolidation in both lower lung zones with nodules and a right middle lobe collapse. A computerized tomography (CT) scan of the chest revealed bronchiectasis with a collapse of the right middle lobe and air space consolidation with cavity formation in the left lower lobe. In addition, in the right upper lobe and both lower lobes, there was branching linear opacity, revealing bronchogenic spread (Fig. 1). Laboratory findings included a white blood cell count of 20,500 cells/mm3 (segment form, 83.7%), hemoglobin of 11.6 g/dL, and platelet cell count of 241,000 cells/mm3. Arterial blood gas analysis performed while breathing without oxygen supplements revealed a pH of 7.39, partial pressure of oxygen of 82.2 mmHg, partial pressure of carbon dioxide of 37.8 mmHg, and oxygen saturation of 95.9%. Hepatic function was normal, except for a mildly elevated aspartate aminotransferase (AST) level of 62 U/L. Renal function was normal, and an human immunodeficiency virus (HIV) test was negative. Acid-fast staining of her sputa revealed numerous bacilli (1-9/10 HPF).
Assuming that she had drug-resistant pulmonary TB, we started a regimen that included isoniazid, ethambutol, levofloxacin, prothionamide, pyrazinamide, and p-aminosalicylic acid. We did not use rifampicin or aminoglycoside because of previous adverse effects. P-aminosalicylic acid was also discontinued within 2 weeks due to abdominal pain. Colonies of mycobacteria were identified in her sputa after 40 days of culture in the Lowenstein-Jensen medium. These bacilli were proved to be NTM, instead of M. tuberculosis complex, by a Gen-Probe test (Gen-Probe Inc., San Diego, CA, USA). These mycobacteria were identified as M. intracellulare by a previously reported polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using cultured mycobacterial colonies at the Korean Institute of Tuberculosis. Under the diagnosis of M. intracellulare lung disease, the regimen was changed to clarithromycin, ethambutol, and moxifloxacin. Despite the regular intake of medication, her symptoms did not improve, and the results of smears for acid-fast bacilli were repeatedly positive (1-9/100 HPF). After 8 months of medication, M. abscessus was isolated instead of M. intracellulare (Table 1). A chest CT performed 1 year after the treatment began revealed minimal improvement (Fig. 1). Amikacin was added to the regimen after careful evaluation of her hearing function. However, she refused to try cefoxitin and imipenem because of possible leukopenia and high cost. We performed a bronchoscopic lavage to identify causative mycobacteria, and M. abscessus was isolated from the cultures of lavaged fluid from the right middle and left lower lobes.
Considering the poor symptomatic response to anti-mycobacterial medications and the persistence of a cavitary lesion, we decided to conduct a surgical resection. She underwent a video-assisted thoracoscopic right middle lobe lobectomy, right lower lobe wedge resection, and right upper lobe wedge resection. She was discharged 6 days after the operation without postoperative complication. On the second operation, which was conducted 1 month later, a video-assisted thoracoscopic left lower lobe basal segmentectomy and left upper lobe wedge resection were performed. She was discharged 11 days after the operation without postoperative complication. After the second operation, negative sputum conversion was achieved. At 11 months after the operation, the results of the smears for acid-fast bacilli were negative, and the amount of sputum had decreased. She was being kept on chemotherapy regimens with clarithromycin, ethambutol, and moxifloxacin without complaining of any respiratory symptoms (Table 1). Amikacin was discontinued after 12 months because of increasing tinnitus. A CT of the chest performed 9 months after the second operation revealed no new lesions (Fig. 1).
|
atypical mycobacteria, surgery, therapeutics
| Not supported with pagination yet
| null |
PMC7522090_01
|
Female
| 60
|
A 60-year-old previously healthy female presented to her local health care providers with cognitive difficulties, memory loss, and social withdrawal, associated with unintentional 40-pound weight loss, and new night sweats. Brain MRI demonstrated multifocal mass lesions (Fig. 1). Stereotactic needle biopsy showed nonspecific perivascular lymphohistiocytic infiltrates. PCNSL could not be confirmed, and no microbiologic studies were performed on the brain tissue. Of note, she was a long-term Oklahoma resident with unremarkable social and personal history.
HIV, syphilis, Histoplasma serum and urinary antigen, cryptococcal serum antigen, Aspergillus antigen, Blastomyces antibodies, Coccidioides antibodies, Tropheryma whipplei serum PCR, and tuberculosis interferon gamma release assay (TB-IGRA) were negative. Blood cultures were negative. CSF analysis showed a white blood cell count of four lymphocytes, with no malignant cells identified, and CSF cultures for bacteria and mycobacteria were also negative. CT-scan of chest, abdomen, and pelvis was unremarkable.
The patient was initiated by her local doctor on empiric course of corticosteroid therapy. An updated MRI at two weeks demonstrated interval decrease in brain lesions. She came to our institution for a second opinion and underwent repeat lumbar puncture. Total nucleated cells in CSF were 13, 98 % lymphocytes, total protein 42 mg/dL, and glucose 59 mg/dL. Additional infectious work-up was negative, including CSF bacterial, mycobacterial, and fungal cultures, meningitis-encephalitis multiplex PCR, Epstein Barr Virus (EBV) PCR, and free-living amebae PCR were negative. Autoimmune encephalopathy panel, oligoclonal bands, and IgG index were also negative. Outside histopathology underwent direct review by our pathology team, who concurred with the result. TB-IGRA was positive twice this time and she had not been exposed to TB in the interim. A repeat CT chest and PET-CT demonstrated several scattered FDG-avid sub-centimeter mediastinal lymph nodes (Fig. 2), which underwent subsequent mediastinoscopic biopsy, ultimately revealing necrotizing granulomas. Tissue cultures grew pan-susceptible Mycobacterium tuberculosis (MTB). Three serial induced sputum cultures were negative.
Given the presumed diagnosis of disseminated TB with tuberculoma, the patient was initiated on standard-of-care quadruple therapy with isoniazid, rifampin, pyrazinamide, and ethambutol together with a tapered course of corticosteroids. Due to high degree of suspicion for PCNSL, repeat brain MRI at 8 weeks following initiation of anti-TB treatment was done, demonstrating recurrent multifocal, bifrontal enhancing mass lesions (Fig. 3). Repeat brain biopsy confirmed PCNSL, diffuse large B-cell type. Tissue cultures and PCR were negative for MTB or any other infectious etiology. The patient was referred to hematology and completed eight cycles of methotrexate, rituximab, and temozolomide. She is planned for autologous stem-cell transplantation.
|
brain tumor, primary central nervous system lymphoma, tuberculoma, tuberculosis
| Not supported with pagination yet
| null |
PMC9207272_01
|
Male
| 0
|
The VZV infection order in this family is shown in Figure 1. A 16-month-old immunocompetent boy (the first patient, Case 1) was brought to the hospital with 2 days of fever and 1 day of rash on October 16, 2020. At the current visit, the boy had respiratory symptoms (cough and wet rales), and his temperature was 41 C. He had rash on his chest (Figure 2A), back (Figure 2B), hip (Figure 2C), and sever blisters on the soles of his feet. He was initially diagnosed and treated as hand-foot-and-mouth disease (HFMD), with semi-annual HFMD outbreak in Wuhu, October. However, RT-PCR assay for enterovirus universal primer, Enterovirus 71 (EV71), and Coxsackie A16 (CoxA16) specific primers were negative. Chest radiography performed at the time of admission to our hospital showed multiple nodules coalescing to form nodular consolidation and infiltrates in both lungs. The tests for anti-VZV IgM and IgG were both negative to the October 17 serum sample (Table 1). Treatment with oral acyclovir at a dose of 100 mg two times a day, the boy's cough resolved on October 23. His serum was taken at the 7-day follow-up visit (October 26), and tested positive for both anti-VZV IgM and IgG (Table 1). The diagnosis of varicella pneumonia was confirmed. His rash completely subsided on November 2 (Figure 2D).
|
atypical, breakthrough varicella, herpes zoster, varicella, varicella-zoster virus
| Not supported with pagination yet
| null |
PMC9207272_05
|
Female
| 57
|
Further investigation revealed the boy's grandmother had developed herpes zoster 2 weeks (index herpes zoster patient, Case 5) before the illness of the boy's sister (Case 2). The 57-year-old grandmother suffered from herpes zoster on her chest, back, and axilla. She had no history of tuberculosis, HIV, Hepatitis B or C, or other immunocompromising diseases. She consulted a private Chinese medicine clinic, and her zoster resolved with traditional Chinese medicine treatments for 2 weeks. The grandmother had been taken care of the children and slept with them.
|
atypical, breakthrough varicella, herpes zoster, varicella, varicella-zoster virus
| Not supported with pagination yet
| null |
PMC5114689_01
|
Female
| 14
|
A Nepalese 14 year old adolescent female with history of treated LTBI presented to the emergency department (ED) with two weeks of non-productive cough and acute fever. The patient emigrated from southern Nepal two years prior with PPD induration of 11 mm, positive Interferon gamma release assay (IGRA) (Quantiferon-TB Gold in-tube test) of 9.55 IU/ml and negative chest radiograph. The patient completed a ten month course of INH and was asymptomatic until the start of this acute episode. Chart review documents patient reported compliance with INH during a TB follow-up visit, but there is no mention of directly observed therapy (DOT) or involvement of the local health department. She had no evidence of immunosuppression though was noted to have low vitamin D levels and growth along the fifth percentile. In the ED she was afebrile, tachycardiac, and tachypneic; she received fluid resuscitation and antipyretics. CBC, CMP were unremarkable with negative blood culture. Chest X-ray demonstrated an ovoid lucency in left upper lobe measuring 1.6 cm by 1.7 cm concerning for post-infectious pneumatocele versus cavitary necrosis in a consolidation (Fig. 1). She received IV ceftriaxone and was admitted to the pediatric infectious disease service.
After further review, she was placed in airborne isolation with concern for TB. Physical exam noted a thin, well-appearing teen with decreased air exchange in the upper left lung field. Chest CT revealed a 2.4 cm cavitary lesion in the left upper lobe consistent with post-primary TB (Fig. 2). Repeat IGRA was positive. Sample was obtained from three consecutive daily gastric aspirates which grew Mtb pan-sensitive to Ethambutol, INH, Pyrazinamide, and Rifampin. Four drug therapy was initiated under direct observation of the health department and she was followed by the local pediatric infectious disease specialist. Repeat sputum acid fast smears were negative for mycobacterium and chest X-ray showed significant improvement upon completion of therapy (Fig. 3).
|
adolescent, dot, directly observed therapy, directly observed therapy, igra, interferon gamma release assay, inh, isoniazid, immigrant, ltbi, latent tuberculosis, mtb, mycobacterium tuberculosis, pulmonary cavitary lesion, tb, tuberculosis, tuberculosis
| Not supported with pagination yet
| null |
PMC4532036_01
|
Female
| 29
|
A 29-year-old woman had had left pleuritic chest pain and dyspnea for 6 months. Eight years earlier, she had taken antituberculous medication for pulmonary tuberculosis.
Three years earlier, bronchoscopic examination revealed focal narrowing of the left main bronchus with severe fibrotic changes suggestive of sequelae of endobronchial tuberculosis. She was treated with balloon dilatation. But her symptoms increased over the next 2 months, and it was believed that further treatment was needed for her stenosis.
Therefore, she was successfully treated with Gianturco self-expandable metallic stents. After the procedure, her clinical symptoms were improved. However, 30 months after stent placement, dyspnea on exertion developed and we noted obstruction at the site of the metallic stent by bronchoscopic examination.
On physical examination, respiratory sound was absent on the side of the chest.
Chest X-ray showed total collapse of the left lung (Fig. 2B). Bronchoscopic examination revealed total obstruction of left main bronchus with granuloma-appeared polypoid mass and proximal portion of migrated metallic stents (Fig. 3). Pulmonary function tests showed the forced expiratory volume in 1s (FEV1) of 0.74L(26% of predicted), FEV1/FVC 50%, the forced vital capacity (FVC) for 1.48L (41% of predicted).
Resection of the left lung, inclunding the stenotic segments of the left bronchus, was performed.
After operation, her pulmonary function tests shows FEV1, of 1.32L (48% of predicted), FEV1/FVC 68%, FVC for 1.80L (50% of predicted). In resected specimen, soft-palpated mass was detected with metallic stent in obstructed bronchus. Biopsy finding of left main bronchus shows granulomatous inflammation by foreign body reaction which is composed of epithelioid cells and lymphocyte.
At 6 months after the operation, the patient was clinically well.
| null | Not supported with pagination yet
| null |
PMC10204759_01
|
Male
| 28
|
A 28-year-old male with psoriasis, which had failed to respond to topical agents, acitretin, and UV light for 3 years, cleared completely 4 weeks after starting on IL-17i, secukinumab. The patient had a biopsy of the back lesions before using secukinumab and was diagnosed with psoriasis (Figure 1A). At this point, plasma concentrations of cytokine: IFN-gamma: 109.72 pg/mL (normal range< 7.42 pg/mL), IL-17A: 5.64 pg/mL (normal range< 2.90 pg/mL). However, after 8 months of secukinumab treatment, he developed erythema, lichenification, and intense itching. They were mainly on the trunk and in skin folds such as the groin and axillary (Figure 2A1-D1). During this period, the patient did not use any other medication.
Laboratory test results were as follows: cytokine detection: IL-4: 3.85 pg/mL (normal range< 2.80 pg/mL), IL-6: 317.54 pg/mL (normal range< 5.30 pg/mL), IL-10: 1.15 pg/mL (normal range<4.91 pg/mL). Inguinal skin cells were repeatedly cultured, with only the growth of Staphylococcus aureus but no fungus. No abnormality was found in the hemogram, hepatic and renal function, hemostasis, humoral immunity, autoimmune antibody profile, and T-SPOT.TB test. The skin tissues of the groin were embedded in paraffin for hematoxylin-eosin (H&E) staining. The biopsy specimens showed: (i) epidermal hyperkeratosis with mild focal parakeratosis; (ii) acanthosis with spongiosis; (iii) lymphocytes and little eosinophils infiltrating around the small vessels (Figure 1B). It represents an overlapping histopathological feature of psoriasis and dermatitis. The patient has no family history of psoriasis, atopic dermatitis, or eczema. Eventually, the disease was diagnosed as PsoD.
We stopped secukinumab and started to use systemic therapy, which included glycyrrhizic acid, vitamin C, calcium gluconate, rupatadine fumarate, ebastine, and methotrexate. However, the patient's symptoms did not improve significantly. We then treated him with tofacitinib and discontinued all other treatments. Then, the patient started follow-up in the clinic once a week due to work. One week later, the lesions became smaller, lighter, and pruritus-free (Figure 2A2-D2). Referring to the dosage of tofacitinib in treating immune-mediated inflammatory diseases, we use tofacitinib for six weeks, including 5mg bid for the first four weeks and 5mg qd for the last two weeks. After six weeks, the patient's lesions remained only hyperpigmented, without new lesions (Figure 2A3-D3). We rechecked the blood cytokine and found no abnormalities. Three months after stopping secukinumab treatment, the patient relapsed psoriasis on the scalp. We successfully relieved the lesions with topical 0.005% calcipotriene for 2 weeks. In 3 months of follow-up after discontinuation of tofacitinib, we observed no adverse effects or recurrence of PsoD (Figure 2A4-D4). The patient was very satisfied with both tofacitinib and calcipotriene treatment. The timeline of this case report is shown in Figure 3.
|
il-17 inhibitors, janus kinase inhibitor, th1-th2 balance, psoriasiform dermatitis, tofacitinib
| Not supported with pagination yet
| null |
PMC4531641_01
|
Female
| 24
|
A 24-year-old woman with a 2-year history of scleroderma with Raynaud's phenomenon visited our rheumatism center in 1998 due to pain and swelling of the joints of both hands and wrists. She had also been suffering from heartburn and dysphagia. Esophageal manometry revealed no peristalsis or contraction of the lower esophagus, and poor relaxation of the lower esophageal sphincter (Figure 1). Omeprazole (Losec ) and cisapride (Prepulsid ) were prescribed with diltiazem (Herben ) and D-penicillamine until 1999.
In 2001, she revisited our hospital at 28 weeks' gestation. And, at 34 weeks' gestation, although her condition remained relatively stable, we noted a decreased fetal movement on the ultrasound scan. A week later, she was admitted to our hospital due to premature rupture of membrane. On examination at admission, generalized pitting edema and albuminuria were found. An intrauterine fetal death was diagnosed by ultrasound scan, and plans were made to terminate the pregnancy.
The day after her admission, intractable vomiting and retching developed, which led to approximately 300 mL of hematemesis. She was pale and moderately dehydrated, though her blood pressure (130/90 mmHg) was within the normal range and her heart rate (106/min) slightly increased. Her hemoglobin level had fallen from 9.7 g/dL to 7.6 g/dL within 12 hours, but the other blood counts, prothrombin time, partial thromboplastin time, electrolytes and liver enzymes were normal.
Despite conservative management and blood transfusion, she continued to bleed. Therefore, an emergency upper gastrointestinal endoscopy was performed, which revealed large blood clots in the distal esophagus and stomach. After removing the blood clots, a Mallory-Weiss tear was discovered near the EG junction (Figure 2). The stomach and duodenum appeared normal. Mucosal ligation and hypertonic saline injection were performed for hemostasis.
Two hours after endoscopy, she developed a generalized tonic-clonic type seizure. Her airway was maintained and oxygen was supplied. Diazepam (Valium ) and magnesium sulfate were given intravenously. Her blood pressure increased from 130/90 mmHg to 150/100 mmHg and her pulse rate normalized. An urgent Caesarean section was performed for eclampsia. Post-operatively, she experienced 5 further seizures. Diffuse brain swelling and slightly low-density lesions in the external capsules and in the subcortical white matter were found by CT due to hypertensive encephalopathy. Magnesium sulfate and 20% mannitol were administered by intravenous injection for 3 days.
A total of 10 units of blood were transfused during her 9 day hospital stay. At discharge, there was no more evidence of hemorrhage, and her condition was totally stabilized. She remained stable without further manifestations of gastrointestinal hemorrhage over the following 8 months, when she was lost to follow-up.
| null | Not supported with pagination yet
| null |
PMC4891578_01
|
Female
| 31
|
A 31-year-old woman presented with an acute onset of epigastric abdominal pain accompanied with nausea and vomiting. The pain had awoken her from her sleep. She denied fever or chills, had passed a bowel movement in the previous 24 hours, and had not sustained trauma. The past medical history revealed a Roux-en-Y gastric bypass operation for weight reduction approximately three years ago, followed by weight loss. On physical examination, there was a significant amount of tenderness appreciated in the epigastric region with minimal radiation. Laboratory tests, including a battery of electrolytes, liver function tests, and a complete blood count, revealed only mild hypokalemia (3.3 meq/L (normal range 3.5-5.3 meq/L)). Her white blood cell count was normal. An abdominal radiograph (Figure 1) and a CT scan (Figure 2) were obtained.
The abdominal radiograph (Figure 1) revealed marked dilated loops of bowel with scattered air-fluid levels that heightened the suspicion of an impending bowel obstruction. A CT scan (Figure 2) of the abdomen and pelvis with oral contrast and intravenous was obtained. CT showed marked dilatated stomach, duodenum and proximal jejunum, with non-dilated distal jejunum, ileum, and colon; these findings were indicative of proximal small bowel obstruction. In addition, there were "target lesions" identified in the left lower abdomen diagnostic of intussusception. The decision was made to take the patient to the operating room.
An exploratory laparotomy was performed and upon entering the peritoneal cavity a large 'football' shaped mass was found. There was a large amount of intussuscepted small bowel that had telescoped into the confluence point of the Roux-en-Y anastomosis. The intussusception was retrograde with the efferent limb constituting the intussusceptum. The efferent limb was successfully reduced from the intussuscipiens, which was the anastamotic site between the Roux limb and the afferent limb. The intussusceptum consisted of three feet of jejunum and was deemed viable. A decision was made to revise the Roux-en-Y anastomosis to eliminate any future bouts of intussusception from that particular lead point. The patient recovered uneventfully.
|
ct, computed tomography
| Not supported with pagination yet
| null |
PMC5519474_01
|
Male
| 85
|
An 85-year-old man was referred to our hospital for further evaluation of exertional dyspnea for 6 months with a modified Medical Research Council (mMRC) dyspnea scale of grade 1. Four years prior, he had complained of a few weeks' history of coughing, pharyngeal pain, and wheezing, which were treated at another hospital with short-term intravenous corticosteroids and oral antibiotics, based on a diagnosis of asthma exacerbation due to upper respiratory tract infection. He had never smoked; but was occupationally exposed to silica dust from the fourth to the seventh decades of his life when he worked at a motorcycle manufacturing company, where he handled sand mold casting without the use of any respiratory protection. All members of his family were never-smokers and while some colleagues at the same factory were smokers, they had scarcely smoked in the factory. His medical history included hypertension and diabetes.
A physical examination was unremarkable, and the breath sounds were normal for both lungs. The laboratory findings were not contributory. The serum immunoglobulin E level was 6 IU/mL; radioallergosorbent tests against common inhaled allergens were all negative. Serum autoantibodies, including rheumatoid factor, anti-cyclic citrullinated peptide antibody, and anti-nuclear, anti-SS-A, and SS-B antibodies, were also negative. The fractional exhaled nitric oxide concentration measured by NIOX MINO (Aerocrine, Solna, Sweden) was 15 ppb. The findings on a bronchial provocation test with acetylcholine chloride was negative. The results of a pulmonary function test were as follows: vital capacity 2.70 L (90.6% predicted), forced vital capacity (FVC) 2.69 L (90.3% predicted), forced expiratory volume in 1 second (FEV1.0) 1.16 L (62.7% predicted), FEV1.0/FVC 43.12%, maximum mid-expiratory flow rate 0.25 L/sec (10.6% predicted), residual volume per total lung capacity 43.98% (110.4% predicted), diffusion capacity of the lung for carbon monoxide (DLco) 13.67 mL/min/mmHg (85.3% predicted), and DLco divided by the alveolar volume 3.57 mL/min/mmHg (90.2% predicted). The bronchial reversibility after ultrasonic nebulization with procaterol hydrochloride was 10.3%. An arterial blood gas analysis on room air showed pH 7.406; arterial oxygen tension 87.3 mmHg; and arterial carbon dioxide tension 40.2 mmHg. On a sputum smear, numerous neutrophils without eosinophils were observed. Chest radiograph showed no abnormalities (Fig. 1A), and high resolution computed tomography (HRCT) of the chest showed thickening of the bronchial walls without emphysema (Fig. 1B and C). The macroscopic findings on fiberoptic bronchoscopy were unremarkable. A transbronchial lung biopsy (TBLB) showed fibrosis and slight pigmentation of the bronchioles (Fig. 2) with small crystals viewed by polarized light microscopy, suggestive of silica exposure.
Non-smoking COPD caused by silica dust was diagnosed, and he was treated with olodaterol and tiotropium bromide. Eight weeks after the initiation of treatment, his exertional dyspnea improved from mMRC grade 1 to 0, and the COPD assessment test score decreased from 7 to 2. Although his airflow obstruction did not improve, his inspiratory capacity increased from 1.86 to 2.01 L on the pulmonary function test.
|
non-smoking chronic obstructive pulmonary disease, occupational chronic obstructive pulmonary disease, silica dust
|
Computed tomography of the chest shows thickening of the bronchial wall without emphysema (B, C).
|
|
PMC5519474_01
|
Male
| 85
|
An 85-year-old man was referred to our hospital for further evaluation of exertional dyspnea for 6 months with a modified Medical Research Council (mMRC) dyspnea scale of grade 1. Four years prior, he had complained of a few weeks' history of coughing, pharyngeal pain, and wheezing, which were treated at another hospital with short-term intravenous corticosteroids and oral antibiotics, based on a diagnosis of asthma exacerbation due to upper respiratory tract infection. He had never smoked; but was occupationally exposed to silica dust from the fourth to the seventh decades of his life when he worked at a motorcycle manufacturing company, where he handled sand mold casting without the use of any respiratory protection. All members of his family were never-smokers and while some colleagues at the same factory were smokers, they had scarcely smoked in the factory. His medical history included hypertension and diabetes.
A physical examination was unremarkable, and the breath sounds were normal for both lungs. The laboratory findings were not contributory. The serum immunoglobulin E level was 6 IU/mL; radioallergosorbent tests against common inhaled allergens were all negative. Serum autoantibodies, including rheumatoid factor, anti-cyclic citrullinated peptide antibody, and anti-nuclear, anti-SS-A, and SS-B antibodies, were also negative. The fractional exhaled nitric oxide concentration measured by NIOX MINO (Aerocrine, Solna, Sweden) was 15 ppb. The findings on a bronchial provocation test with acetylcholine chloride was negative. The results of a pulmonary function test were as follows: vital capacity 2.70 L (90.6% predicted), forced vital capacity (FVC) 2.69 L (90.3% predicted), forced expiratory volume in 1 second (FEV1.0) 1.16 L (62.7% predicted), FEV1.0/FVC 43.12%, maximum mid-expiratory flow rate 0.25 L/sec (10.6% predicted), residual volume per total lung capacity 43.98% (110.4% predicted), diffusion capacity of the lung for carbon monoxide (DLco) 13.67 mL/min/mmHg (85.3% predicted), and DLco divided by the alveolar volume 3.57 mL/min/mmHg (90.2% predicted). The bronchial reversibility after ultrasonic nebulization with procaterol hydrochloride was 10.3%. An arterial blood gas analysis on room air showed pH 7.406; arterial oxygen tension 87.3 mmHg; and arterial carbon dioxide tension 40.2 mmHg. On a sputum smear, numerous neutrophils without eosinophils were observed. Chest radiograph showed no abnormalities (Fig. 1A), and high resolution computed tomography (HRCT) of the chest showed thickening of the bronchial walls without emphysema (Fig. 1B and C). The macroscopic findings on fiberoptic bronchoscopy were unremarkable. A transbronchial lung biopsy (TBLB) showed fibrosis and slight pigmentation of the bronchioles (Fig. 2) with small crystals viewed by polarized light microscopy, suggestive of silica exposure.
Non-smoking COPD caused by silica dust was diagnosed, and he was treated with olodaterol and tiotropium bromide. Eight weeks after the initiation of treatment, his exertional dyspnea improved from mMRC grade 1 to 0, and the COPD assessment test score decreased from 7 to 2. Although his airflow obstruction did not improve, his inspiratory capacity increased from 1.86 to 2.01 L on the pulmonary function test.
|
non-smoking chronic obstructive pulmonary disease, occupational chronic obstructive pulmonary disease, silica dust
|
Computed tomography of the chest shows thickening of the bronchial wall without emphysema (B, C).
|
|
PMC3212974_01
|
Male
| 44
|
A 44-year-old man was admitted to the infectious disease department of our hospital for fever and abdominal distension. The CT-scan evidenced a 6.5 cm abdominal lymph node mass with peritoneal infiltration. Patient was found HIV-1 infected and the CT driven lymph node biopsy led to the diagnosis of Burkitt lymphoma. At that time, CD4+ T cell count was 55/mul, HIV-RNA copies were 232.000/ml and patient was proven positive for anti-Toxoplasma IgG antibodies. Combined antiviral therapy (cART) with emtricitabine/tenofovir/lopinavir and prophylaxis for Toxoplasmosis/Pneumocystis jiroveci pneumonia and disseminated Mycobacterium Avium Complex infection with trimethoprim/sulfamethoxazole and azithromycin at standard doses were undertaken. In the meanwhile, patient underwent chemotherapy for Burkitt lymphoma, according to the Magrath protocol, consisting of the administration of two regimens: CODOX-M (Cyclophosphamide 800 mg/m2 i.v.day 1; Vincristine 1.5 mg/m2 i.v. days 1, 8 and 15; Doxorubicin 40 mg/m2 i.v. day 1, Cytarabine 70 mg i.t. days 1 and 3; Cyclophosphamide 200 mg/m2 i.v.days 2-5; Methotrexate 1200 mg/m2 i.v. over 1 hour and then 240 mg/m2 i.v. each hour over 23 hours, day 10; Leucovorin 192 mg/m2 i.v. day 11 at hour 36 after methotrexate and then 12 mg/m2 i.v. every 6 hours until methotrexate level was not detectable; Methotrexate 12 mg i.t. day 15) and IVAC (Ifosfamide 1500 mg/m2 i.v. days 1-5; Mesna 360 mg/m2 mixed with ifosfamide i.v. and then 360 mg/m2 i.v. 3 hourly for seven doses, Etoposide 60 mg/m2 i.v. days 1-5, Cytarabine 2 g/m2 i.v. 12 hourly for a total of four doses, days 1-2, Methotrexate 12 mg i.t.day 5). G-CSF was administered at dose of 5 mug/kg s.c. daily, from day 15 after CODOX-M and from day 7 after IVAC regimen, until neutrophil granulocyte count reached 0,5 x 109/l. Overall, the patient received two alternating CODOX-M/IVAC courses and four Rituximab administrations at 375 mug/m2 i.v. dose over a six month period. A total body CT scan performed at the end of therapy, showed normal lymph node, liver and spleen size. The complete remission of the lymphoma was subsequently confirmed by a 18-FDG-PET scan. The CD4+ T cell count arose progressively to normal values and the HIV-RNA copies became persistently undetectable. Four months after the end of the therapy, the patient started to complain progressive weakness of legs, and, afterwards, sudden urinary retention. He was still on prophylaxis with trimethoprim/sulfamethoxazole without interruption; CD4+ T cell count was 270/mul and HIV-RNA was undetectable (< 50 copies/ml). Neurologic examination revealed absent ankle reflexes, reduced strength (3/5) in lower limbs and saddle sensory deficit. The spine MRI with Gadolinium showed a focal lesion of the conus medullaris, involving the proximal portion of the cauda equina nerve roots. The lesion was hyper-intense on T2-weighted images and showed marked contrast-enhancement (Figure 1a-c, white arrows). The patient was then admitted to our department: the brain MRI demonstrated an additional lesion in the deep right frontal region (0.5 cm), with signal alterations similar to that of the spinal cord. The cerebral spinal fluid (CSF) examination showed a slight increase of protein and cell concentrations (199 mg/dl and 56/mm3, respectively), with any evidence of immature lymphoid cells. The flow cytometry analysis of CSF samples revealed that cells were CD19 positive B lymphocytes, without kappa or lambda light chain restriction. PCR assays for Mycobacterium tuberculosis-DNA, Epstein Barr virus (EBV)-DNA and cytomegalovirus-DNA on CSF were all negative. The search for Cryptococcus antigen was negative, as well. Whereas both brain and spinal lesions were highly suggestive for lymphoma localizations, the total body CT scan showed no liver, spleen or lymph node enlargement consistent with the systemic relapse of the Burkitt lymphoma. Indeed, in the suspicion of an isolated CNS relapse, the patient underwent open biopsy of the conus medullaris lesion. The histological examination revealed numerous Toxoplasma tachyzoites surrounded by inflammatory cells (Figure 1d). Actually, the patient referred that he owned a cat who lived with him. Indeed, the proper treatment with pyrimethamine and sulfadiazine was undertook with marked improvement of neurologic conditions in few weeks. The patient showed the full neurologic recovery and the MRI scan performed after 4 months demonstrated the definite disappearance of both spinal and brain lesions.
| null | Not supported with pagination yet
| null |
PMC10389653_01
|
Male
| 10
|
A 10-year-old boy was admitted to the hospital with a cardiac murmur for 8 years. The patient had no previous history of cyanosis, squatting, syncope, hemoptysis, chest pain, or recurrent pneumonia, and showed shortness of breath after activity since the age of 6. In August 2022, the patient was hospitalized in our department of cardiology with a diagnosis of "pneumonia, septic pericarditis, infective endarteritis, hydropericardium and pleural effusion", and no pulmonary aneurysm was detected by cardiac ultrasound and chest CT several times during the hospitalization. The boy was diagnosed with infective endarteritis because of positive blood culture (micrococcus luteus), high white blood cell count (28.28 x 109/l), and echocardiogram indicating vegetation in the left pulmonary artery. We administered anti-infective therapy according to the guidelines of infective endocarditis, waited for a negative blood culture result, followed by a full course of antibiotics for more than 4 weeks before proceeding with surgery. He was discharged after 17 days of anti-infective treatment and was continued on oral linezolid for 18 days. In September 2022, a follow-up chest CT showed a significantly enlarged cardiac shadow, and most of the pericardial and pleural effusions were absorbed. The follow-up chest x-ray from August to November is shown in Figure 1. The following were the results of the physical examination performed on admission: there was no differential cyanosis in the upper and lower extremities, thrill could be felt, persistent mechanical murmur could be heard between the second and third ribs at the left edge of the sternum, there was accentuation of P2 cardiac sound without fixed splitting, there were no clubbed fingers, and there was congenital absence of the left hand. An echocardiogram performed on 14 November 2022, revealed patent ductus arteriosus, with a left-to-right shunt flowing at 4.2 m/s; a mild tricuspid regurgitation flowing at 2.4 m/s; the size of the pulmonary artery was 31 x 19 mm, with an inner diameter of 9.8 mm; a strong echogenicity of 3 x 5 mm in size was detected at the opening of the left pulmonary artery. A cardiac CT angiography (CTA) revealed that the size of the pulmonary artery was 31 x 26 x 25 mm, and the end of the pulmonary artery of the patent ductus arteriosus was 5.8 x 4.8 mm (Figure 2). The electrocardiograph (ECG) showed sinus rhythm with high left ventricular voltage and electrical gradients in the QRS wave (QRS) wave group. Preoperative routine blood test, blood biochemical examination, CRP, hematocrit, syphilis screening, and tuberculosis screening showed no significant abnormalities.
We performed the surgery, which lasted for over 9 hours. We performed a median sternotomy and found severe pericardial adhesions; possibly the boy had pericarditis due to infective endarteritis. After instituting cardiopulmonary bypass, we freed along the distal pulmonary trunk, and its surrounding tissues were severely adherent and not easily identifiable. Thus, we decided to lower the anal temperature to 18 C in preparation for deep hypothermic circulatory arrest; the heart and cardiopulmonary bypass were arrested with del Nido cardioplegia through the aortic root. A longitudinal incision was made in the pulmonary trunk to identify the pulmonary artery end of the ductus arteriosus, the diameter of which was 10 mm. We used a bovine pericardial patch (Balance Medical) to repair the defect from the medial aspect of the pulmonary artery. After freeing the structures surrounding the pulmonary artery aneurysm, the aneurysm was seen to be approximately 30 mm in diameter and spherical in shape (Figure 3). A dissection of the aneurysm revealed no vegetations inside it or at the opening of the left pulmonary artery. After complete resection of the aneurysm, the pulmonary trunk was repaired with a bovine pericardial patch (Balance Medical) and continuous sutures with 5-0 Prolene sutures. The temperature was increased, the aorta was deaired, and the aortic clamp was removed. The anastomosis of the bovine pericardial patch oozed blood significantly, and repeated reinforcement and trimming of the pulmonary artery wall around the aneurysm proved ineffective. During the fourth aortic cross-clamp, a complete resection of the pulmonary aortic wall around the aneurysm was done, and a reconstruction of the pulmonary artery trunk with the bovine pericardium patch was carried out, following which the bleeding abated, the circulation finally stabilized, gauze compression was applied to stop bleeding, and the closure of the chest was delayed. The cardiopulmonary bypass time was 382 min. The aortic cross-clamp time was 60 + 36 + 2 + 69 min, 167 min in total. The deep hypothermic circulatory arrest time was 37 min. An intraoperative transesophageal echocardiography showed a patent pulmonary artery flow. After the operation, the patient was admitted to the cardiac intensive care unit (CCU), and the chest was closed successfully on the third postoperative day.
The patient's surgery was successful with no serious complications. The postoperative cardiac CTA revealed that the pulmonary aneurysm disappeared, the pulmonary artery flow was patent, and the pulmonary artery trunk was significantly reduced (Figure 4). A pathological examination of the pulmonary artery aneurysm showed a vascular wall-like structure with a smooth inner layer and uneven thickness with varying degrees of fibrosis and mucoid degeneration, and a focal infiltration of acute and chronic inflammatory cells could be seen in the thick position. The boy reported no abnormal results on the postoperative follow-up echocardiogram at 1, 3, and 6 months. The CT scan also showed a smooth PA reconstruction and no aneurysm on the pulmonary artery.
|
children, infective endarteritis, patent ductus arteriosus, pulmonary artery aneurysm, surgical repair
| Not supported with pagination yet
| null |
PMC6358374_01
|
Male
| 53
|
A 53-year-old man presented with repeated bilateral flank pain for 6 month, at first, the pain is subtle, without apparent cause or any other symptoms such as micturition, urgent emiction, fever or gross hematuria. Since rest can relieve the symptoms, the patient did not pay much attention to it. Five days before being admitted to Xiangya hospital, the patient went to local clinic for help because the pain in the low back increased with significant dysuria, catheterization was performed, the drainage was pink with blood clots in it, suggesting urinary system tumor.
After admitted for further treatment, the patient was inquired in detail and examined carefully. He was a farmer and owned no pets. He lived in the west of Hunan province and had not traveled outside China. He got married at 20 and has a daughter, his wife and daughter reported no severe or congenital disease. He drank alcohol occasionally and was a heavy smoker. He had a surgery of nasal polypectomy 5 years ago. He reported no weight loss, headache, chest pain or cough, and declined history of congenital disease, coronary heart disease, hypertension, hepatitis, tuberculosis, schistosoma exposure, toxic and radioactive substances exposure, trauma, transfusion or allergy.
On physical examination, the patient showed no fever, his heart rate was 104 beats per minute, blood pressure 143/108 mm Hg, and respiratory rate 20 breaths per minute. He was clear headed and not in agony. No purpura or ecchymosis was found on the skin. Bilateral renal percussive pain was presented with tenderness in the right but not the left, no tenderness in the ureteral and bladder zone.
Ultrasound revealed 2 similar protruding masses in bilateral kidneys, with mass sizes about 94 x 69 mm (lower left kidney), 81x80 mm (upper right kidney). Both masses were hybrid echoed under ultrasound (Fig. 1A and B), indicating a cystic-solid structure with septa inside. CDFI (color Doppler flow imaging) of the masses described above both showed low blood flow. Enlarged lymph nodes were observed around bilateral renal portals. MRI findings accord with the result of ultrasound, and the mass on the left kidney showed high signal inside (Fig. 1C and D), inferring hemorrhage or necrosis in the mass recently. The white blood cell count (WBC) increased to 13.4 x 109/L (reference range 3.5-9.5 x 109/L), alpha-fetoprotein (AFP), carcinoembryonic antigen (CEA), cancer antigen 125 (CA125), cancer antigen 242 (CA242), and cytokeratin-19-fragment were negative for blood screening.
Treatment options and findings were discussed with the patient, and the decision was made to perform an exploratory operation. Because intraoperative biopsy reported malignancy, the mass in the left kidney was removed with an additional 5 mm clinical margin. The gross specimen revealed multiple cysts within the tumor, full of reddish brown matters inferring hemorrhage or necrosis, which accords with the blood clots in the drainage described above. The solid component lies in the border, about 3 x 2 x 1 cm in size, medium texture, and grayish yellow in the cut section.
Hematoxylin and eosin stain show that tumor cells are separated by collagenous fiber (Fig. 2A), in most area, the tumor cells form tubular structure with mucus accumulated within (Fig. 2B), in some area, the tumor cells form papillary structure (Fig. 2C) accompanied with typical high-grade "hobnail" like cells within the tubules. The tumor compressing and invading surrounding tissue is easy to be seen (Fig. 2D). In summary, it is classic morphology for CDC. The cells stained strongly positive for PAX8, GATA3, KSP (Fig. 2F-H), EMA, CK-pan, CK19 and negative for CD10, CK7, TTF-1, OCT3/4, 34betaE12. The proliferation rate ki67 is about 20% (focally, Fig. 2I), PAX8 and GATA3 double positive supported the diagnosis (the antibodies employed are listed in Table 1).
The postoperative period was uneventful, the symptom of dysuria disappeared 5 days after surgery. Without adjuvant treatment, the patient went home for recovery, a month later, the patient came back as told. Post-surgery PET-CT confirmed the mass on the left kidney is also a lesion of CDC, and suggested there were metastasis in lungs, bones and multiple sites of lymph nodes (Fig. 3). After consulting the department of oncology, we suggested the patient to consider getting chemotherapy, he refused and discharged. With telephone follow-up every 3 months, we were informed that the patient survived for only 7 months and his family refused autopsy.
| null | Not supported with pagination yet
| null |
PMC9344135_03
|
Male
| 75
|
A 75-years old man receiving daratumumab-lenalidomide and dexamethasone as first line therapy for an IgAk MM was admitted for fever, hypoxia and decrease in consciousness. Blood tests showed normal neutrophils count (3.4 x109/L), lymphocytopenia (0.5 x109/L) and severe hypogammaglobulinemia (1.3 g/l) that was not present at MM diagnosis. CRP at admission 647 nmol/L (normal value < 47 nmol/L). The patient had no pneumological comorbidities, respiratory function was unremarkable before starting MM-therapy and he was on antibiotics prophylaxis with levofloxacin during the first 3 cycles of therapy. He was treated with 3 cycles of MM-therapy and dexamethasone dosage was reduced at 50% according to age (0.27 mg/kg/day of prednisolone for more than 90 days) achieving a biochemical VGPR.
Meropenem and linezolid were started but 4 days later, the respiratory support was increased with non-invasive ventilation.
CT scan showed bilateral pleural effusion, ground glass areas and parenchymal consolidation areas. Oral posaconazole was added to broad spectrum iv antibiotics ( Figure 3 ) few days before BAL obtaining therapeutic levels on blood. Serum AGASP was persistently negative.
A BAL was performed during antimicrobial therapy with no microbiologically documented infection. Very low copies of cytomegalovirus (CMV) were detectable on BAL sample but there were judged not enough for diagnosis of pulmonary CMV infection. CMV DNA on whole blood was negative and patient was not treated with antiviral therapy. Patient underwent oro-tracheal intubation due to worsening gas exchange. Broad spectrum antibiotics were continued for 10 days while empiric antifungal therapy for almost 2 months.
There was a progressive improvement, with oxygen weaning and suspension of all antimicrobial drugs. Follow up CT scan showed a regression in all ground glass and consolidation areas, lymphocyte count increased > 1.5 x109/L and patient recovered and was able to resume every-day activities. After this favourable evolution, patient was able to safely re-start daratumumab-lenalidomide-dexamethasone 2 months later. He was not on secondary antifungal prophylaxis and the monitored lung CT scan at 4 months from the IFI was negative. Until now, after other 5 cycles of MM-therapy there was no IFI outbreak, patient continued substitutive IVIg according to blood dosage (median IgG 3.2 g/l).
|
complications, daratumumab, fungal infection, mould, multiple myeloma
| Not supported with pagination yet
| null |
PMC5013050_01
|
Male
| 58
|
'Mr. C' is a 58-year-old Navy veteran with a history of substance use disorder in sustained remission, traumatic brain injury (TBI), mild neurocognitive impairment, and a 15-year diagnosis of schizophrenia. Importantly, his sister indicated that Mr. C suffered his first psychiatric break during adolescence. He was prescribed medication, but his parents, who indicated their preference for treating his condition with prayer, refused these. He has been living with his sister for the past 20 years and participates in all activities of daily living. He is a widower and is currently unemployed. His TBI history includes a single episode approximately 25 years ago when he fell off a moving train, requiring extended hospitalization. Mr. C was brought in to our Veterans Affairs (VA) hospital by his sister after calling the Veterans' Crisis Line with SI. One week earlier there was an altercation with his brother-in-law resulting in Mr. C attacking him with a crowbar and the sister intervening. On admission, the family reported that Mr. C was taking venlafaxine and quetiapine.
Upon initial interview, Mr. C was grossly oriented, with psychomotor agitation, mildly pressured speech, anxious mood, and restricted affect. Thought process was tangential, and his cooperation was poor due to his preoccupation with delusions that he was dead, that nothing existed. He felt his body was being energized by demons: "These demons are my energy, I am dead, how can I have any energy?" He perseverated on this content despite attempts to engage him: "How can you help me, I am dead." When asked about suicidal ideation (SI) he indicated, "I am dead, how can I be suicidal?" When providers commented on the novelty of speaking with a dead person, he replied, "Maybe you are dead too." Importantly, his nihilistic beliefs included strong religiously mediated content not shared by his family. Mr. C. made the comments: "That physical God is alive because he has a physical body, but the demons inside me keep me dead, keep me from being alive." "It is not nice meeting the devil, all the demonic spirits are tormenting me and raping me." He believed his insides were being corroded by demons and indicated that he had repeatedly sodomized himself to try and purge himself of the demons. Mr. C's sister indicated that the onset of his religiously themed delusional symptoms began after his TBI when he became convinced that a miracle had occurred during the accident and he became aware of his "dead nature."
Magnetic resonance imaging (MRI) performed in April 2015 revealed mild global volume loss for age with widening of the Sylvian fissure bilaterally. Neither evidence of past acute TBI or white matter abnormalities were noted on fluid-attenuated inversion recovery (FLAIR) imaging (Figure 1). Neuropsychological testing administered during the index hospitalization was significant for impairment on tasks of processing speed, simple attention, verbal learning and memory, aspects of executive functioning (set-shifting, verbal fluency), facial recognition, and affect naming and recognition. Aspects of visuospatial discrimination and construction, confrontation naming, and visual memory were intact (Table 1).
Upon initial presentation, given the patient's aggressive and activated behavior as well as sleep difficulties, venlafaxine was discontinued and quetiapine was titrated to 700 mg. Divalproex was added during the admission for mood stabilization and titrated to 750 mg. During his 2 weeks on the inpatient ward repeated inquiry about his religious experience and his relationship to God led to changes in the content of Mr. C's delusion from literal and concrete beliefs that he was physically dead to more abstract and metaphorical descriptions of spiritual death. His belief that only God was physically alive remained, and his belief that demons possessed his body persisted. Continued probing about the patient's existence demonstrated further amelioration of the nihilistic content. A month into his admission when asked if his daily activities (eating, drinking, showering) were evidence that he was in fact physically alive, he indicated that he was 'probably alive.'
Mr. C continued to be alert and oriented to person, place, and time, with evidence of increased insight into his preoccupation with his belief that he was dead. Approximately 1 month into his admission he recognized when the content of his speech began to focus on death, demons, and self-negation, at which point he would stop and remark, 'There I go again talking about all that dead stuff.' He was ultimately discharged after 5 weeks of hospitalization. On discharge, the patient's brother noted that he was less delusional and more linear than at baseline.
|
cotard delusion, hyper-religiosity, schizophrenia, self-harm, traumatic brain injury (tbi), violence
| Not supported with pagination yet
| null |
PMC7502850_01
|
Male
| 52
|
A 52-year-old patient visited our hospital with dyspnea on exertion which had started three years previously and worsened over the previous three weeks. Three years ago when the symptom started, he had visited a local clinic and underwent bronchoscopy which showed bronchial narrowing. At that time, he received no treatment.
He had type 2 diabetes mellitus and took oral hyperglycemic agents (metformin 1000mg, glimepiride 4mg, and acarbose 100mg twice daily). His hemoglobin A1c level was 7.1%. He was a 17.5-pack-year current smoker. He had undergone a cranial operation due to trauma. His father had a history of tuberculosis, and his mother had diabetes mellitus.
A chest radiograph and a chest computed tomography (CT) scan revealed neither focal haziness in the lungs nor obstruction of the airways (Fig. 1A-B). A pulmonary function test showed a moderate obstructive pattern. The CT scan showed tracheobronchial wall calcification from the trachea to the main bronchi and segmental bronchi (Fig. 1C-D). In the trachea, the nodules were prominent in the cartilaginous portion, while in the right and left main bronchi, luminal narrowing with calcification and mucus plugging were found.
Under bronchoscopy, the whole trachea, the right middle and lower, and the left main and lingular bronchi were covered by submucosal whitish nodules with capillary dilatation (Fig. 2). Some bronchi were nearly obstructed by the nodules. The tissues were resected for pathology, and a biopsy sample was obtained from the right main bronchus.
The pathology showed pinkish amorphous deposition in the bronchial wall with multifocal osteochondroid metaplasia (Fig. 3A). Using Congo-red staining, apple-green birefringence was observed under the polarized microscope (Fig. 3B). Amyloid typing was not done.
The patient underwent abdomen skin biopsy and it showed no amyloid deposition. He had no albuminuria on dipstick test and had normal serum albumin-to-globulin ratio, which suggests that it is not likely for him to have systemic protein-producing disease or diabetes mellitus with complication.
He was diagnosed with TPO associated with TBA and started taking methotrexate once weekly. His lung function improved: forced expiratory volume in 1 second (FEV1) increased from 2.03 L to 2.24 L after rigid bronchoscopy laser resection. After following up for 3 years with methotrexate maintenance, his symptoms and pulmonary function were stable and the patient was referred back to the local clinic.
|
tracheobronchial amyloidosis, tracheobronchopathia osteochondroplastica
| Not supported with pagination yet
| null |
PMC3992778_01
|
Male
| 55
|
A 55-year-old man developed fever of 1 week duration, followed by altered sensorium of 1 day duration. On admission, he had neck rigidity with intermittent opisthotonus. Computed tomography brain and routine blood investigations were normal. He developed hypotension after admission and required intubation and vasopressors. Cerebrospinal fluid (CSF) showed 700 cells/cmm with 43% polymorphs, 57% lymphocytes, normal sugar and elevated protein of 75 mg/dl. He was started on ceftazidime, vancomycin and acyclovir. After 2 days, his condition deteriorated. On examination, he was in a "locked in state" (conscious, opened eyes and blinked and tracked his eyes and protruded his tongue to command). He had a flaccid quadriplegia with grade 0 power in all limbs and global are flexia. Sensory examination was normal. Magnetic resonance imaging (MRI) spine showed hyperintensities in the cervical cord extending from C2 to C7 levels. Axial MRI sections showed intense hyperintensities predominantly involving the grey matter (polio-myelitis) [Figure 1]. MRI brain was essentially normal. His chest X-ray showed bilateral fluffy infiltrates. He then developed intermittent dysautonomia with intermittent tachycardia, tachypnea, blood pressure swings and hypersalivation. Nerve conduction (NCV) studies showed normal motor and sensory responses with absent F waves in all nerves. The initial diagnosis was AFP with polyradiculopathy due to a meningo-encephalitis. The differential diagnosis included paralytic rabies, Cytomegalovirus (CMV), human immunodeficiency virus (HIV) infection and leptomeningeal metastases [Table 1]. On day 5, he developed oliguric renal failure and persistent hypotension following which he became comatose. CSF polymerase chain reaction (PCR) panel was positive for WNV and negative for CMV, human herpes virus-6, rabies, John Cunningham virus, herpes simplex virus (HSV) 1 and 2, dengue, Japanese encephalitis (JE), nipah, chikungunya, chandipura, mumps, measles and enterovirus including poliovirus, fungi and bacteria including Myobacterium tuberculosis on day 7 (Xcyton acute encephalitis syndrome [AES], Bangalore). The serum and CSF samples were positive for both Japanese encephalitis virus (JEV) and WNV immunoglobulin M (IgM) antibodies by IgM capture enzyme-linked immunosorbent assay (ELISA) (JEV IgM ELISA, National Institute of Virology [NIV] Pune and WNV IgM ELISA, InBiosinc. USA). However, the serum sample on microneutralization assay showed a high titer of neutralizing antibodies to WNV (titer: 40) and undetectable neutralizing antibodies to JEV (titer <10). Hence, the WNV etiology was confirmed. CSF was negative for malignant cells. He was offered sustained low efficiency dialysis (SLED) due to persistent hypotension. He underwent three sessions of SLED. On day 14, the relatives decided to withdraw treatment and he expired on day 15.
|
acute flaccid paralysis, poliomyelitis, west nile associated poliomyelitis, west nile in kerala, west nile infection in india, west nile meningoencephalitis, west nile paralysis, west nile poliomyelitis in india, west nile virus
| Not supported with pagination yet
| null |
PMC3992778_02
|
Male
| 42
|
A 42-year-old man presented to us with buttock pain of 1 week duration. Two days prior to admission, he developed high grade fever and back pain followed the next day by weakness of the right leg and intense twitching of the right thigh. He had grade 0/5 power in the right leg, 4/5 power in the left leg with absent deep tendon reflexes bilaterally and a normal sensory exam. Fasciculations were noticed over both thighs. An MRI spine with contrast was normal. Routine blood investigations were normal. CSF showed 135 cells with 93% lymphocytes and 7% polymorphs and normal sugar and protein. PCR for bacteria, including Mycobacterium tuberculosis, Streptococcus pneumonia, Neisseria meningitidis and HSV, CMV and varicella zoster virus were negative. He was treated for presumptive viral myelitis with acyclovir, ceftazidime and vancomycin for 10 days. Three serum samples collected within 2 weeks after the onset of central nervous system (CNS) symptoms were positive for both JEV and WNV IgM antibodies by IgM capture ELISA (JEV IgM ELISA, NIV Pune and WNV IgM ELISA, InBiosinc., USA). However, the serum samples on microneutralization assay showed significantly high titre of neutralizing antibodies to WNV (titre: 320) and undetectable neutralizing antibodies to JEV (titer <10) confirming the WNV etiology. His fever subsided, but he had residual flaccid paralysis of the right leg, proximal > distal at follow up 1 month later.
|
acute flaccid paralysis, poliomyelitis, west nile associated poliomyelitis, west nile in kerala, west nile infection in india, west nile meningoencephalitis, west nile paralysis, west nile poliomyelitis in india, west nile virus
| Not supported with pagination yet
| null |
PMC5794377_01
|
Male
| 47
|
A 47-year-old man presented with a history of a gradual worsening hemoptysis over more than a decade, with shortness of breath for the most recent 2 years. Two years prior, he had been diagnosed with pulmonary tuberculosis and was treated with medications for tuberculosis for 6 years without significant improvement. His past medical history, family history, and social history were noncontributory. His physical examination findings were normal. His complete blood count, comprehensive metabolic panel, C-reactive protein, erythrocyte sedimentation rate, HIV testing, and urinalysis yielded mostly normal results, except for an elevated erythrocyte sedimentation rate (22 mm/h) and D-dimer concentration (1137.86 mg/L).
Echocardiography results were consistent with PH and right ventricular dysfunction, with an estimated pulmonary arterial systolic pressure of 78 mm Hg. The echocardiogram also identified turbulent blood flow within the left atrium (Video 1). Color Doppler demonstrated 2 high-velocity continuous jets originating from the right and left PVs, indicative of PV stenosis (Fig. 1). A ventilation/perfusion scan demonstrated diffusely decreased perfusion to the right lung, most prominent in the right upper lobe. Contrast-enhanced computed tomography (CT) of the thorax revealed multiple soft-tissue shadows, mediastinal lymphadenopathy, and calcification, findings consistent with FM (Fig. 2). The CT also revealed bilateral patchy ground glass opacities suggestive of pulmonary edema with occlusion of the left and right superior PVs and stenosis of the inferior PVs (Figs. 2 and 3). In addition, pulmonary consolidation was observable (Fig. 3).
A right heart catheterization was performed, during which an increased PA pressure of 69/29 mm Hg (mean, 42 mm Hg) was observed with a wedge pressure of 16 mm Hg. His cardiac index was 3.52 L/min/m2. Cardiac angiography revealed no contrast flow into the left atrium through the left and right superior PVs; a small amount of contrast reached the left atrium through the left and right inferior PVs (Video 2). It also demonstrated superior PV occlusion and inferior PV stenosis. Together with the history and physical examination, these observations led to a clinical diagnosis of chronic FM with PV occlusion and stenosis leading to PH.
In a discussion of the potential treatment options, the surgeon suggested that efforts to strip away the fibrotic soft tissue could result in rupture of the PVs, and thus recommended a catheter-based intervention for the PV stenosis. However, the interventional radiologist thought that endovascular stenting of the stenotic lesions was likely to result in recurrent stenosis. After comprehensive consideration of the risks of surgery and a catheter-based intervention, the patient chose to proceed with conservative management and was discharged with a diuretic therapy plan aimed at reducing his pulmonary edema.
In September 2016, he was admitted to the hospital for a pulmonary infection and was discharged after showing improvement. At a follow-up visit in November 2016, the patient confirmed that he had adhered to the diuretic regimen, but felt no significant improvement in his symptoms. At present, his condition is stable.
| null |
Chest CT (pulmonary window) in patient with MT. Note the findings of pulmonary consolidation (arrow) and pulmonary edema (asterisk).
|
|
PMC3730476_01
|
Female
| 29
|
A 29-year-old female patient, referred from general medicine department was presented with asymptomatic purplish and black colored skin lesions over the face (around lips) and extremities since past 15 days. Patient was a known and treated case of pulmonary tuberculosis and had taken complete anti-tubercular treatment 2 years back. Three months back, before the development of skin lesions, patient came to our hospital with complains of continuous cough and heaviness in chest. 2 D echo was carried out, which showed blocking in left pulmonary artery due to thrombus with right ventricular enlargement. Patient was put-on oral Warfarin 2.5 mg once daily to dissolve the thrombus. At that time her sputum was negative for acid fast bacilli (AFB). Two and half months later the patient came back with worsening of her chest complaints and on investigation she was found to have reactivation of pulmonary tuberculosis (sputum positive for AFB). She also had the above mentioned skin lesions for which she was referred to skin out patient department (OPD). General examination revealed her poor general condition with multiple purple to black ecchymotic patches around mouth, upper, and lower extremities [Figures 1 and 2]. Skin over right knee revealed black eschar surrounded by ecchymotic patch and erythema [Figure 3]. She also had resolving grouped vesicular lesions involving right L3, 4 dermatome, and clinically, suggestive of Herpes zoster. Routine investigations were within normal limits. Prothrombin time international normalized ratio (PTINR) of patient was carried out, which initially was not recordable as it was very high. We advised enzyme linked immune sorbent assay (ELISA) for human immunodeficiency virus (HIV) antibodies taking in to consideration her reactivation of pulmonary tuberculosis, drug reaction, and herpes zoster. ELISA for HIV antibodies was reactive. Then the patient was admitted in medicine ward. Oral Warfarin was stopped and she was given two units of FFP on two alternate days. After giving one FFP, PTINR came down to 4 min, however, the patient died on the 4th day of admission.
|
human immunodeficiency virus, warfarin, late onset, skin necrosis
| Not supported with pagination yet
| null |
PMC6016156_01
|
Male
| 41
|
A 41-year-old man, a native from Rio de Janeiro and an HIV and HCV carrier, without criteria for the treatment for HCV (detectable viral load, without cirrhosis and with normal transaminase levels), who had abandoned ART, had attended the Gaffree and Guinle University Hospital's immunology clinic complaining about continuous epigastric burning pain without irradiation and with diffuse abdominal pain that was mild and continuous, which had started approximately two months prior to admission. He also complained about intense hematochezia that had started three weeks before, with intense flow and with "pure blood" appearance without clots. He presented with daily hyperthermia since the abdominal symptoms had started with intermittent high fever and an over 10% body weight loss in the same period. The physical examination revealed oral candidiasis, bleached mucous membranes, and cachexia. At the admission time, the HIV viral load was recorded at 905,569 copies per ml, and the TCD4 lymphocyte count was 144 cells/dL. Prophylactic sulfamethoxazole-trimethoprim 400/80 mg 2 IV ampoules once daily and fluconazole 200 mg IV once daily for treatment of the oral candidiasis were prescribed. The patient's condition evolved without major occurrences or complaints, presented with high fever, above 38 C almost every day. Blood counts revealed thrombocytopenia, neutrophilia, lymphopenia, anemia, microcytosis, and anisocytosis (Table 1). The medical team requested upper digestive endoscopy (Figure 1) and colonoscopy (Figure 2), which verified the presence of ulcer with irregular and raised edges, fibrinonecrotic base, measuring approximately 3 cm in the middle third of the esophagus and 30 cm from the incisors and the mild antrum gastritis, and swollen, irregular, and fibrinous ulcers in the ileocecal valve, descending colon, and all other segments. The lesions were similar to those found in the esophagus, which could suggest the same etiology. It was suggested by the internal medicine team that the diagnosis could be a coinfection (tuberculosis, cytomegalovirus, and herpes simplex virus disease). The diagnosis of tuberculosis and cytomegalovirus coinfection of the gastrointestinal tract was confirmed by the histopathological report (Ziehl-Neelsen staining of acid-fast bacilli, CMV intracytoplasmic inclusions in Giemsa staining, and immunohistochemical study with positive labeling for CMV in cells with clear halos), and some time later, culture with the growth of M. tuberculosis (Figure 3). Treatment was started with an RIPE scheme (rifampicin + isoniazid + pyrazinamide + ethambutol) 4 tablets daily and ganciclovir 350 mg IV for 21 days with a weight gain of 4 kg and clinical and laboratory improvement. He was discharged from the hospital with ART lamivudine, tenofovir, and efavirenz (TDF + 3TC + EFV) one tablet per day and was referred to a clinical follow-up for tuberculosis and HIV/HCV coinfection monitoring. At the end of the treatment for tuberculosis and 6 months after ART was restarted, the patient's viral load was <40 copies/dL and the CD4+ T-cell count was 356 cells/dL, asymptomatic.
| null | Not supported with pagination yet
| null |
PMC7521098_01
|
Female
| 0
|
A 16-months-old female patient admitted to our hospital with a 3-days history of fever, fatigue and poor appetite. On examination, she was cachectic and lethargic. Height was 63.5 cm (less than the third percentile), weight was 6.150 g (less than the third percentile), and head circumference was 45 cm (3-10 percentile). A systemic examination revealed bilateral coarse crackles throughout both lung fields and hepatosplenomegaly. Laboratory tests are summarized in Table 1. The total calcium and the ionized calcium levels were elevated (18.3 mg/dL, N: 9-11; 4.57 mmol/L, N:1.12-1.32, respectively). The phosphate level was 4.4 mg/dL (N: 3.4-6) within the normal range. There was neither a reported history of excessive calcium or vitamin D intake nor consumption of thiazides. Alkaline phosphatase was 131 U/L (N: 5-281), 25-hydroxy vitamin D was 133 ng/mL (N: 30-70), and parathyroid hormone level was decreased 1.2 pg/mL (N: 15-65). The 1,25-dihydroxy-vitamin D3 level was also high at 345 pg/mL (N: 21-156). Random urinary calcium/creatinine ratio was high at 1.25 (N:<0.5) and there was nephrocalcinosis in renal ultrasonography. Intravenous hydration with normal saline and furosemide therapy was started on admission, but the serum calcium level remained elevated above the upper normal limit. Consequently, she received an infusion of 0.5 mg/kg pamidronate-disodium for two doses with no side effects observed, and her serum calcium gradually decreased to 11.3 mg/dL. A chest radiograph demonstrated opacities and interstitial infiltrates; hence, computed tomography of the lungs was performed. This revealed widespread pulmonary opacities and consolidation, multiple calcified lymph nodes and parenchymal mass with cavitary lesions (Fig. 1). The patient was again questioned for contact with anyone with tuberculosis. It was learned that anti-tuberculosis therapy was initiated to the mother at the gestation, but she did not complete the treatment. In addition, the patient was not immunised for bacilli Calmette-Guerin. In view of the severe symptomatology and radiological findings, a diagnosis of a hypercalcemic crisis secondary to tuberculosis was defined. The patient was empirically started on treatment for tuberculosis with rifampin, isoniazid (INH), pyrazinamide and ethambutol during the hospital admission. Three weeks after admission, we detected Mycobacterium tuberculosis complex DNA by the polymerase chain reaction in the serum specimen. Within two weeks of the initiation of therapy, the serum calcium level dramatically decreased to 9.1 mg/dL, and the patient showed a markedly improved sense of well-being. Her anti-tuberculosis therapy is continuing without any complaint and a follow-up computed tomography scan showed resolution of her previous lesions in the lung and the hypercalcemia had not recurred again.
|
bisphosphonates, hypercalcemia, miliary tuberculosis, pamidronate-disodium
|
Chest radiography and thoracic computed tomography of the patient with pulmonary tuberculosis. (A) The chest radiograph demonstrated opacities and interstitial infiltrates bilaterally.
|
|
PMC7521098_01
|
Female
| 0
|
A 16-months-old female patient admitted to our hospital with a 3-days history of fever, fatigue and poor appetite. On examination, she was cachectic and lethargic. Height was 63.5 cm (less than the third percentile), weight was 6.150 g (less than the third percentile), and head circumference was 45 cm (3-10 percentile). A systemic examination revealed bilateral coarse crackles throughout both lung fields and hepatosplenomegaly. Laboratory tests are summarized in Table 1. The total calcium and the ionized calcium levels were elevated (18.3 mg/dL, N: 9-11; 4.57 mmol/L, N:1.12-1.32, respectively). The phosphate level was 4.4 mg/dL (N: 3.4-6) within the normal range. There was neither a reported history of excessive calcium or vitamin D intake nor consumption of thiazides. Alkaline phosphatase was 131 U/L (N: 5-281), 25-hydroxy vitamin D was 133 ng/mL (N: 30-70), and parathyroid hormone level was decreased 1.2 pg/mL (N: 15-65). The 1,25-dihydroxy-vitamin D3 level was also high at 345 pg/mL (N: 21-156). Random urinary calcium/creatinine ratio was high at 1.25 (N:<0.5) and there was nephrocalcinosis in renal ultrasonography. Intravenous hydration with normal saline and furosemide therapy was started on admission, but the serum calcium level remained elevated above the upper normal limit. Consequently, she received an infusion of 0.5 mg/kg pamidronate-disodium for two doses with no side effects observed, and her serum calcium gradually decreased to 11.3 mg/dL. A chest radiograph demonstrated opacities and interstitial infiltrates; hence, computed tomography of the lungs was performed. This revealed widespread pulmonary opacities and consolidation, multiple calcified lymph nodes and parenchymal mass with cavitary lesions (Fig. 1). The patient was again questioned for contact with anyone with tuberculosis. It was learned that anti-tuberculosis therapy was initiated to the mother at the gestation, but she did not complete the treatment. In addition, the patient was not immunised for bacilli Calmette-Guerin. In view of the severe symptomatology and radiological findings, a diagnosis of a hypercalcemic crisis secondary to tuberculosis was defined. The patient was empirically started on treatment for tuberculosis with rifampin, isoniazid (INH), pyrazinamide and ethambutol during the hospital admission. Three weeks after admission, we detected Mycobacterium tuberculosis complex DNA by the polymerase chain reaction in the serum specimen. Within two weeks of the initiation of therapy, the serum calcium level dramatically decreased to 9.1 mg/dL, and the patient showed a markedly improved sense of well-being. Her anti-tuberculosis therapy is continuing without any complaint and a follow-up computed tomography scan showed resolution of her previous lesions in the lung and the hypercalcemia had not recurred again.
|
bisphosphonates, hypercalcemia, miliary tuberculosis, pamidronate-disodium
|
Chest radiography and thoracic computed tomography of the patient with pulmonary tuberculosis. (B) Computed tomography of the lung revealed widespread opacities and confluent consolidation with multiple calcified lymph nodes and parenchymal mass with cavitary lesions bilaterally, with more extensive changes on the left.
|
|
PMC3201596_03
|
Female
| 11
|
An 11-year-old girl was treated for pulmonary tuberculosis when she was 3 years old; then operated on to remove a hepatic hydatid cyst while she was 8 years old. The patient was admitted at emergency department for an acute abdomen following an abdominal contusion. The examination found a febrile and vomiting patient with abdominal pain. The palpation objectified a painful hepatic mass with matity of the sides. The biological assessment found a hyperleukocytosis at 13000 elements/mm3. The ultrasound and the CT-scan of the abdomen revealed two hepatic hydatid cysts (80x70 mm and 66x 58 mm) including one that has already ruptured. A RHC of type 3 (67x54 mm) was also found in the left kidney.The patient was urgently operated on to remove the ruptured hepatic cyst. She developed a cutaneous rush with hypotension. The cure of the renal cyst was differed 2 months later to reduce the time of the intervention considering the anaphylactic shock developed, and to avoid sowing the retroperitoine. The patient favorably evolved under treatment, using corticosteroid and antiparasitic therapy, and she has received albendozale-based medical treatment for six months. The follow up is for three years.
Observation 4
|
hydatid cyst, morocco, child, kidney
| Not supported with pagination yet
| null |
PMC9761232_01
|
Male
| 59
|
A 59-year old Iranian man was referred to the emergency department complaining of pain in lower limbs, tingling, weakness, impaired bilateral lower limb movement, foot drop, and frequent urination. He was diagnosed with type 2 DM 18 years before admission due to episodes of polydipsia and polyuria. However, initial treatment with the prescription of glibenclamide (10 mg/day), metformin (2000 mg/day), and dietary changes were unsuccessful, and fasting blood glucose concentration was maintained within the approximate range of 8.5 to 11 mmol/L(153-198 mg/dL).
Two years prior to admission, oral antidiabetic medication was suspended, and treatment with Neutral Protamine Hagedorn (NPH) insulin was initiated at doses of 30 IU in the morning and 20 IU at night, as well as 10 IU of regular insulin before meals. The patient had poor treatment compliance, and insulin doses were progressively increased to 240 IU (total daily dose), as well as the resumption of metformin (2000 mg/day) and liraglutide 2.4 (mg/day). His self-monitoring blood glucose ranges were 300 to 450 mg/dL. The patient was admitted with persistent symptoms, and random glucose measurement was 16.6 mmol/L (300 mg/dL).
Besides the past medical history of type 2 DM, he suffered from diabetic polyneuropathy and ischemic heart disease. His drug history was human insulin 240 IU (total daily dose), liraglutide (2.4 mg/day), metformin (2000 mg/day), aspirin (80 mg/day), valsartan (80 mg/day), bisoprolol (2.5 mg/day), and hydrochlorothiazide (25 mg/day).
On physical examinations, the patient was alert, and his vital signs were stable. The cardiopulmonary examination was unremarkable, but acanthosis nigricans and skin tags were observed in his neck (Figure 1). His body mass index was 30 kg/m2. Neurological examinations showed no deep tendon reflex in lower limbs, disturbed sense of position, paresthesia in socks and gloves distribution, and reduced force in lower limbs (4/5) compared to upper limbs (5/5). His Gowers' sign was also found to be positive.
The patient's insulin dose was increased to 530 IU (total daily dose) during his admission, but he had uncontrolled blood glucose levels (HbA1c of 16.1% and fasting blood sugar (FBS) ranges of 400 to 500 mg/dL). Due to a daily insulin requirement of more than 2 IU/kg, the patient was diagnosed with severe insulin resistance. Other potential causes of high blood sugar, including pharmacological, neoplastic, infectious, and autoimmune etiologies, were ruled out. Blood biochemistry profile showed normal kidney and liver function tests. As the aforementioned tests were negative, TBIRS was considered a potential diagnostic hypothesis, and radioimmunoassay (Synlab, Barcelona, Spain) showed autoantibodies against the insulin receptor with a value of 5.23 U/mL (normal range: less than 1 U/mL).
On the other hand, because of the pain, tingling, and weakness of the lower limbs, the patient underwent Electromyography (EMG) and nerve conduction velocity (NCV) test, which revealed chronic axonal sensory-motor polyneuropathy suggestive of CIDP. Neurology consultation was requested, and 12 sessions of plasmapheresis were initiated (1500 L in every session). During initial sessions of plasmapheresis, his pain, weakness, movement disorders of the lower extremities, and blood glucose levels improved significantly; However, due to the patient's refusal to continue plasmapheresis, oral prednisolone (60 mg/day) was initiated during hospitalization leading to amelioration of his neurological manifestations and significant blood glucose control. By the time of discharge, human insulin was discontinued, and he had controlled blood glucose with oral medications and homologous insulin (lispro). He was then discharged with prednisolone tablets (30 mg/day), homologous insulin (total dose of 100 IU/day), liraglutide (1.8 mg/day), acarbose (150 mg/day), metformin (1500 mg/day), glibenclamide (20 mg/day), and pioglitazone (30 mg/day).
In his follow-up 3 months after discharge, he reported significant improvements in his lower limb symptoms, but he still had mild pain in the proximal parts of his lower limbs. The daily dose of prednisolone was decreased to 15 mg/day. His FBS and HbA1c were also in acceptable ranges (120-150 mg/dL and 7.8%, respectively). Timeline of blood glucose, insulin dosages as well as HbA1c levels are illustrated in Figure 2.
|
diabetes mellitus, case report, chronic inflammatory demyelinating polyneuropathy, polyneuropathy
| Not supported with pagination yet
| null |
PMC10348431_01
|
Female
| 49
|
A 49-year-old woman, with no relevant personal or familial history, presented to the Emergency Department with upper left abdominal pain, early satiety, night sweats and an 8% weight loss within the previous two months. She reported no fever. On admission she was pale, tachycardic and with palpable splenomegaly, six centimetres below the left costal margin. Blood tests revealed a normochromic and normocytic anaemia (Hb 9 g/dl), thrombocytosis (445 x 109/l, reference range 150-400 x 109/l), LDH 892 UI/l (reference range 85-227 UI/l), erythrocyte sedimentation rate (ESR) of 101 mm/h, C-reactive protein (CRP) of 17.30 mg/dl (reference range < 0.60 mg/dl) and hypoalbuminemia (3.1 g/dl). The magnetic resonance imaging (MRI, Fig. 1) of the abdomen showed a multinodular splenomegaly of 15x11x17 (Fig. 1B, arrow).
Serial blood cultures were negative as well as tests performed to exclude several infectious diseases such as infectious mononucleosis, cytomegalovirus, brucellosis, schistosomiasis, echinococcosis, human immunodeficiency virus, hepatitis B and C and tuberculosis. Myelogram and bone marrow biopsy showed no significant abnormalities - no leishmanias. There was no evidence of involvement of other organs, as confirmed by F-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT). An ultrasound-guided biopsy of the spleen confirmed a primary splenic DLBCL, with non-germinal centre B-cell-like (non-GCB) immunophenotype (Fig. 2 and 3), configuring a stage I disease. Her International Prognostic Index (IPI) score was 1 (low risk).
The patient started on first-line chemotherapy with conventional R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone) and experimental tafasitamab, a CD19-directed cytolytic antibody, approved for treatment of refractory, transplant-ineligible, DLBCL. At two years of follow-up the patient maintains complete remission.
|
primary splenic lymphoma, diffuse large b-cell lymphoma, non-hodgkin lymphoma, splenic nodules, splenomegaly
| Not supported with pagination yet
| null |
PMC5582536_01
|
Male
| 60
|
A 60-year-old gentleman, with a history of 6 months on and off blood stained sputum, was admitted for an episode of massive hemoptysis. Urgent computed tomography (CT) bronchial arteriogram was performed to assess the need for bronchial artery embolization. It excluded any dilated bronchial artery. Focal consolidation with multiple small centrilobular nodules and adjacent ground glass changes were found [Figure 1a and b]. Bronchoscopy with biopsy taken was negative for malignancy and infection. Autoimmune workup was negative. Tuberculosis infection (TB) could present with centrilobular nodules and consolidative changes in CT, and relatively common in Asia. The culture sometimes could be false negative in partially treated cases. Combined with the clinical picture, with negative bronchoscopy, fungal, acid-fast bacilli culture and cytology, the case was treated as culture-negative TB. However, his hemoptysis was unresolved. He was followed up with high-resolution CT after a month, showed an enlarged left upper lobe mass surrounding by a ground glass halo [Figure 2a and b] Neoplasm had to be considered. Left thoracotomy and left upper lobe lobectomy were performed. Epithelioid angiosacroma was found in histology. The sections showed an infiltrative hemorrhagic tumor, which eroded the bronchus and was associated with bronchial luminal hemorrhage and diffuse hemorrhage into the adjacent pulmonary parenchyma [Figure 3a]. The tumor comprised sheets of loosely cohesive malignant tumor cells which had eccentric markedly pleomorphic nuclei, prominent nucleoli, vesicular with presence of fine strands of chromatin, and moderate amount of eosinophilic cytoplasm [Figure 3b]. In areas, adenomatoid tumor arrangement, ill-formed ectatic vascular channel formation, and hemorrhagic microcystic arrangement with mitotic figures up to 1.5 per 10 high-power fields. The tumor cells were immunoreactive to vascular markers ERG and CD31 [Figure 3c and d], and are negative to CD34. Some tumor cells showed cytoplasmic staining upon study for epithelial marker CK. Tumor cells were negative to TTF-1. The overall features supported epithelioid angiosarcoma. On review of the intitial CT, there is partial obliteration of the segmental bronchus, these findings would be more suggestive of malignancy than atypical infection such as TB or fungal infection.
|
hemoptysis, lung cancer, primary epithelioid angiosacroma, pulmonary hemorrhage
|
(a) With repeated hemoptysis, investigation with high resolution computed tomography after a month (selected axial image) showed the left upper lobe mass is significantly enlarged (arrow).
|
|
PMC5582536_01
|
Male
| 60
|
A 60-year-old gentleman, with a history of 6 months on and off blood stained sputum, was admitted for an episode of massive hemoptysis. Urgent computed tomography (CT) bronchial arteriogram was performed to assess the need for bronchial artery embolization. It excluded any dilated bronchial artery. Focal consolidation with multiple small centrilobular nodules and adjacent ground glass changes were found [Figure 1a and b]. Bronchoscopy with biopsy taken was negative for malignancy and infection. Autoimmune workup was negative. Tuberculosis infection (TB) could present with centrilobular nodules and consolidative changes in CT, and relatively common in Asia. The culture sometimes could be false negative in partially treated cases. Combined with the clinical picture, with negative bronchoscopy, fungal, acid-fast bacilli culture and cytology, the case was treated as culture-negative TB. However, his hemoptysis was unresolved. He was followed up with high-resolution CT after a month, showed an enlarged left upper lobe mass surrounding by a ground glass halo [Figure 2a and b] Neoplasm had to be considered. Left thoracotomy and left upper lobe lobectomy were performed. Epithelioid angiosacroma was found in histology. The sections showed an infiltrative hemorrhagic tumor, which eroded the bronchus and was associated with bronchial luminal hemorrhage and diffuse hemorrhage into the adjacent pulmonary parenchyma [Figure 3a]. The tumor comprised sheets of loosely cohesive malignant tumor cells which had eccentric markedly pleomorphic nuclei, prominent nucleoli, vesicular with presence of fine strands of chromatin, and moderate amount of eosinophilic cytoplasm [Figure 3b]. In areas, adenomatoid tumor arrangement, ill-formed ectatic vascular channel formation, and hemorrhagic microcystic arrangement with mitotic figures up to 1.5 per 10 high-power fields. The tumor cells were immunoreactive to vascular markers ERG and CD31 [Figure 3c and d], and are negative to CD34. Some tumor cells showed cytoplasmic staining upon study for epithelial marker CK. Tumor cells were negative to TTF-1. The overall features supported epithelioid angiosarcoma. On review of the intitial CT, there is partial obliteration of the segmental bronchus, these findings would be more suggestive of malignancy than atypical infection such as TB or fungal infection.
|
hemoptysis, lung cancer, primary epithelioid angiosacroma, pulmonary hemorrhage
|
(b) Selected coronal image of high resolution computed tomography could appreciate the ground glass halo around the enlarged lung mass (arrow).
|
|
PMC3232569_01
|
Female
| 12
|
A 12-year-old girl presented at our institution with three episodes of near syncope. The patient's family history was negative for syncopes as well as for other inheritable disorders and she was not on any medication. She could perform moderate aerobic sports (cycling, hiking, swimming) without any problems. All three spells occurred in the morning and were interpreted as orthostatic intolerance. The physical examination revealed a systolic murmur; the 12-lead-ECG was normal. By echocardiography a discrete prolapse of the mitral valve with trivial mitral regurgitation was diagnosed.
Head-up-tilt table testing was performed in a quiet room at 9 am after a light breakfast with enough fluid intake in order to avoid dehydration as a cause for positive testing. The room temperature was 18 degrees centigrade. The patient was positioned supine on the tilt table without a venous line for 20 minutes. As the patient relaxed and power spectral analysis of heart rate variability showed an increasing vagal tonus, the tilt table was set in the upright position of 60 degrees within 10 seconds according to the guidelines. The test was to be continued until symptoms would arise or to a maximum length of 45 minutes of upright position.
The monitoring device ("Task Force Monitor", CNS Systems, Graz, Austria) consisted of a central computer driving several monitoring systems working independently from each other.
Beat-to-beat blood pressure was measured by a finger cuff measuring online beat-to-beat blood pressure on the 2nd and 3rd finger of the left hand and using the so called vascular unloading technique. The pulse signal with its variables is measured for every heartbeat and transformed into a pulse waveform similar to that obtained by invasive arterial blood pressure monitoring. The waveform is displayed on the master screen giving the relative values of beat-to-beat blood pressure.
Calibration of this system occurs through a conventional non-invasive blood pressure cuff positioned on the right upper arm and is performed every five minutes.
We obtained a standard 6-lead-ECG from the patient's chest giving its signal to the central monitoring device, which in turn measures beat-to-beat heart rate and consecutive R-R-intervals. Every R-R-interval is displayed in milliseconds and correlated online with the changes in beat-to-beat blood pressure given in millimetres of mercury. At this point, baroreceptor sensitivity can be calculated according to the sequence method.
By analysing online the heart rate variability it was possible to gain a power spectral analysis delineating the low-frequency band (0,1 Hz, LF) and high frequency band (0.3 Hz, HF). Thus, sympathetic (LF) and parasympathetic (HF) dominance of the autonomous nervous system can be shown during the test and a LF/HF ratio of greater 2 was used for defining a prominent sympathotonus.
Stroke volume measurement is possible through impedance cardiography. Three electrodes were positioned on the right and left lateral chest wall immediately adjacent to the xiphoid as well as in the neck, respectively. A fourth, reference electrode, is set on the left foot. The relative changes in chest impedance measured by these electrodes are transmitted to the central device and transformed into an online waveform signal shown on the monitor giving the beat-to-beat stroke volume and its changes over time and within the cardiac cycle. By multiplying stroke volume and heart rate we obtain the cardiac output in absolute values and standardized for body surface area (cardiac index). From the two variables of cardiac output and mean arterial blood pressure it is possible to calculate total peripheral vascular resistance and its changes during the tilt test.
|
cardiac output, case report, heart arrest, syncope, tilt-table test
| Not supported with pagination yet
| null |
PMC9843593_01
|
Female
| 17
|
A 17-year-old primiparous woman with a gestational age of 14 weeks presented on March 1, 2020, at 5:30 pm. with unilateral leg swelling and sudden abdominal distension beginning in the night before referring to the health center Sarbaz. The patient had a history of fever, abdominal pain, dry coughs, and shortness of breath during the previous week and nausea, vomiting and fatigue during the previous 2 months, but she had no family history of respiratory disorders. As a housewife who had not recently traveled, she did not report a history of hypertension, surgery, allergies, and underlying diseases.
In the abdominal examination of the patient by a healthcare provider, the baby's heartbeat was not heard and a mismatch was observed between gestational age and fundal height, which corresponded to approximately 24 weeks of gestation. The physical examinations also showed body temperature of 37.5 C, blood pressure of 140/90 mmHg, heart rate of 119 bpm, respiratory rate of 18 per min, and oxygen saturation of 97% at room temperature using an oximeter pulse. Moreover, the laboratory tests showed hemoglobin (HB) = 8.4 and urinary protein of + 1. Given the blood pressure of 140/90 mmHg, four g of a 20% MgSo4.7H2 O USP solution added to 100 ml of Ringer's solution was intravenously injected within 20 min and 10 g of a 50% magnesium sulfate solution was injected deep into the muscles, 5 g at each buttock [Table 1]. After receiving a Foley catheter, the patient was transferred in an ambulance to Iran Hospital, Iranshahr as a referral center for pregnant women while receiving 6-8 l/min of oxygen in a left lateral recumbent position aided by a midwife. The patient was admitted to the maternity ward at 9 pm. She was conscious and pale with hematuria, uterine contractions and vital signs of blood pressure = 110/70 mmHg, pulse rate = 99, respiratory rate = 18, body temperature = 37.3 C and urine output = 300 ml/hr. After performing the tests by inserting two IV lines into the left brachial vein (n = 20) and the right radial vein (n = 18), the patient was immediately monitored and was visited by a gynecologist. Vaginal examination showed a closed cervix with no bleeding. Moreover, the patient received 1000 ml of normal saline. An ultrasound was performed by a radiologist at 9:30 pm. Complete molar pregnancy was diagnosed with an enlarged heterogeneous uterus 180 cm x 90 cm in size and containing 170 mm x 80 mm cysts. Then, 400 mug of vaginal misoprostol (Cytotec) was administered. At 22:10, one unit of packed red blood cells (PRBCs) was administered due to HB = 5, and the patient did not show any allergy or shortness of breath during the blood transfusion. Two units of PRBCs were also reserved for the following morning. Counseling was performed by an internist, a cardiologist and infectious disease specialist. The internist evaluated the patient for thyroid storm and signs of pulmonary thromboembolism. Stat anti-coagulant, hydration and hydrocortisone injection (stat and three times a day) were administered. Thyroid tests were also performed, which showed thyroid-stimulating hormone: 0.2, T4:23 and T3:5.6. No heart problems were observed during the cardiac counseling. The infectious disease specialist suggested the risk of lung metastasis due to molar pregnancy.
Regarding the risk of developing COVID-19, the patient was transferred to the corona ward for isolation. The treatment began with vancomycin AMP 1 g BID, hydrocortisone AMP 100 mg/ml STAT and TDS, oseltamivir CAP 75 mg for 5 days, Kaletra CAP 200 mg for 5 days, and meropenem AMP 1000 mg TDS. The patient's body temperature and oxygen saturation respectively reached 37.4 C at 98% an hour later.
A surgical mask was provided for the patient. Contact precautions were observed and all the healthcare team members were provided with appropriate personal protective gear and droplet. The patient underwent monitoring at 00:00 am. due to dry coughs and respiratory distress. The oxygen saturation reached 98% after undergoing oxygen therapy. The reverse transcription polymerase chain reaction sample was taken using oral and throat swabs. Based on the results of the RT-PCR, it was found that the patient be negative for COVID-19. At 00:10 am., 1/3-2/3 IV fluid therapy started at 30 drops/min. At 04:30 am., the patient's urine output was below 100 ml/hr. The patient was transferred to the operating room the next day (March 2, 2020) at 6 am. while receiving the second unit of PRBCs.
Under sterile condition after prep and drop in dorsal lithotomy position after TV, the height of the uterus was 24-26 weeks, suction curettage was performed to evacuate the uterus contents. First suction curettage was performed and sharp Kurt was then inserted in the uterus. During the curettage, the patient received 20 units of oxytocin in 1 L of normal saline plus 0.2 mg of methylergonovine. The contents of the uterus were about 1 L. Samples of the pregnancy products were transferred for pathological examinations. There was no bleeding at the site of the tenaculum.
The patient received the third unit of PRBCs on the 2nd day at 8 am. Chest radiography was performed by a radiologist at 8:20 am. that showed multiple nodules in both lungs. After developing severe respiratory distress at 11:40 am., the patient was visited by an anesthesiologist, an infectious disease specialist and a gynecologist. Then she underwent oxygen therapy at 6-8 l/min with a mask. The patient was intubated at 13:30 and transferred to the intensive care unit with a respiratory rate of 52, body temperature of 37 C, and pulse rate of 170 [Figure 1]. The next day, computed tomography (CT) scan was performed due to shortness of breath, respiratory distress and lowered oxygen saturation (92%).
The CT scan showed bilateral ground-glass patches [Figure 2], suggesting COVID-19. Then, the patient underwent hydration with 1500 ml of normal saline at 30 drops per min and oxygen therapy at 8 liters per min with a mask. At 3rd day at 18:00, the patient had a fever of 38.50 C. The Apotel AMP was injected. Symptoms of the patient began to improve on the 4th day [Figure 3].
Feeling fine on the 5th day, the patient was discharged from the hospital with a good general health status. She was followed up for 2 weeks at a private recovery center for patients discharged from the hospital. Given the problem of distance, weekly phone follow-ups were performed for 4 weeks after discharge, and the patient did not report any problems.
|
covid, hydatidiform mole, treatment
| Not supported with pagination yet
| null |
PMC4587436_01
|
Female
| 31
|
A 31-year-old Caucasian female with ulcerative colitis, primary sclerosing cholangitis, and cirrhosis presented with fever, chills, shortness of breath, dry cough, and chest pain for five days after being started on prednisone 40 mg daily and azathioprine 50 mg daily for autoimmune hepatitis two months earlier. She was born and raised in New York state and only travelled to Vermont and Florida. During the prior two weeks, she traveled to a hunting shack in northern New York and had been there twice before becoming ill. She had no personal or family history of tuberculosis and has had several prior negative PPDs during nursing school. On presentation, she was febrile to 102 F, pulse of 120 beats per minute, respiratory rate of 20 breaths per minute, and blood pressure of 96/58 mmHg and required 2 liters oxygen to keep her saturation above 90%. Initial exam was benign with clear lungs. After blood and urine cultures were obtained, vancomycin and meropenem were started empirically. A paracentesis was not performed due to small ascitic fluid pockets. Initial chest X-ray showed trace left-sided pleural effusion without any evidence of infiltrates. Initial lab work showed ALT 62 U/L, AST 87 U/L, alkaline phosphatase 158 U/L, total bilirubin 13.2 mg/dL, INR of 2.9, WBC of 16,000/ul with 14,400/uL neutrophils, hemoglobin 7.8 g/dL, and platelets of 167,000/uL. After a CT chest revealed small bilateral cavitary nodules the following day, vancomycin and meropenem were continued along with amphotericin being started with concern for a fungal infection (Figure 1).
Without clinical improvement, a CT guided biopsy of the necrotic pulmonary nodules was performed by interventional radiology three days after admission. The CT chest of the biopsy showed a new right upper lobe lesion (Figure 1) despite being on meropenem, vancomycin, and amphotericin. A bronchoscopy with bronchoalveolar lavage was performed the following day and Gram stain, fungal stain, and extensive cultures were all negative. With continued deterioration six days after the biopsy, a repeat CT chest showed increasing size and number of pulmonary nodules with ground glass opacities despite treatment with meropenem, vancomycin, and amphotericin. On day eleven of admission, cultures from the CT guided biopsy turned positive for Legionella. The antimicrobials were stopped and levofloxacin was started and continued for 3 weeks with resolution of symptoms. The culture was sent to the New York State Department of Health in Albany, NY, and identified as L. micdadei. Negative tests included normal transthoracic echo, normal head CT, and normal neck ultrasound. Five blood cultures, respiratory viral panel, urine Legionella antigen, Pneumocystis DNA PCR, Legionella culture from BAL, bacterial culture, fungal culture, Aspergillus antigen, and Histoplasma antigen were negative.
| null | Not supported with pagination yet
| null |
PMC3894914_01
|
Female
| 32
|
A 32-year-old female presented to the local hospital with history of anorexia, nausea, heartburn, fatigue, fever and weight loss (15 kg over 5 months). She denied any history of vomiting or change in bowel habits. Her investigations revealed anaemia (haemoglobin 7.7 g%). An upper GI endoscopy revealed chronic active gastritis with positive helicobacter pylori. Computerized tomography (CT) scan of the abdomen showed a mass in the stomach (Figure 1A) and hence was referred for further management. On examination she had a fever of 38 C and sinus tachycardia (120 beats/min). She also looked pale and emaciated, but there was no jaundice or lymphadenopathy. Abdominal examination revealed fullness in the left upper quadrant with tenderness on deep palpation.
Blood tests revealed iron deficiency anaemia (haemoglobin 7 g%) and hypoalbuminaemia (17 g/L; normal 34-50). Repeated upper GI endoscopy showed a mass occupying the proximal part of the stomach with 2 satellite lesions (Figure 1B). Biopsy of the lesion confirmed a low grade spindle/epitheloid cell tumor, probably of neural origin; gastric autonomic nerve tumor (GANT). Endoscopic ultrasound (EUS) revealed a gastric mass arising from the mucosa and submucosa with perigastric, and splenic lymph nodes. Biopsy from the lymph node was taken, but was inconclusive.
As part of preoperative preparation, total parenteral nutrition was started and two units of blood were transfused. She underwent exploratory laparotomy which showed a large fundal tumor infiltrating the hilum of the spleen and tail of pancreas with multiple perigastric lymph nodes. However, there were no free peritoneal fluid, peritoneal nodules or visible distant visceral metastasis. An en-block total gastrectomy, splenectomy and distal pancreatectomy was performed (Figure 2A, 2B) with Roux-en-Y oesophago-jejunal anastmosis. On postoperative day (POD) 6, the contrast swallow showed no leak, the patient was fed and discharged home on POD 7.
Histology of the specimen showed a heterogeneous multifocal malignant spindle cell/epithelioid cell tumor exhibiting variable patterns ranging from low grade sclerostic spindle cell areas to high grade epithelioid cell areas/nodules with high cellularity, geographical/palisading necrosis (Figure 3A) and frequent mitoses (Mitotic rate is 40/10 HPF). The tumor cells show rhabdoid morphology and in areas it shows fascicular arrangement with neural like areas. The tumor arises from the gastric fundus and invades throughout the gastric mucosa, submucosa, and muscle layer involving the subserosal fat and surrounding large serosal blood vessels and abutting the splenic capsule. All the harvested perigastric lymph nodes were reactive and negative for metastatic disease (0/6). All surgical resection margins were free of tumor which tethered the splenic capsule, without splenic or pancreatic parenchyma invasion. The two satellite mucosal nodules show similar appearances to the main tumor. The background gastric tissue is unremarkable and negative for dysplasia. Immunohistochemical staining revealed focal positive staining with for Vimentin, CD34 (Figure 3B), and S100 (Figure 3C), but were negative for c-kit (CD117), DOG1, SMA, Desmin, HMB45, ALK1, EMA, Pancytokeratin and NSE. Ki 67 was variable ranging from 10% to 70%. The histological immunohistologic findings (Figure 3C, 3D) are consistent with a gastrointestinal autonomic nerve tumor which represents a phenotypic variant of gastrointestinal stromal tumor.
She presented 2 months later, with mild dysphagia. Gastroscopy was advised to exclude an anastomotic stricture but she refused. Therefore, a CT scan with oral contrast was performed and showed a newly developed hypo-attenuating lesion at segment IVb (1.7x1.4 cm) consistent with hepatic metastasis. There was also a left chest solitary metastasis (Figure 4A) and an enlarged necrotic lymph node in the hepato-gastric ligament. A PET/CT 18F-FDP whole body scan showed FDG-avid pulmonary, upper abdominal, hepatic, adrenal, bony and muscular metastases (Figure 4B, 4C). She presented again 3-month later with a pathological fracture of the left humerus. Resection biopsy of the bone lesion revealed metastatic GANT invading bone and skeletal muscle tissue.
Her clinical condition deteriorated 3 months later and was admitted for palliative care management. She was later lost to follow-up and presumed dead.
|
gastrectomy, gastrointestinal autonomic nerve tumors, metastases, prognosis
|
CT scan showing the lung metastatic lesion.
|
|
PMC9979095_02
|
Female
| 12
|
Her diabetes mellitus was controlled with oral hypoglycemic medications. She was also on levothyroxine 50 mcg once daily for hypothyroidism and sertraline 50 mg daily for depression. The patient neither recalls any history of chickenpox nor vaccine against chickenpox. She reported a previous infection by tuberculosis when she was 12 years old for which she received a complete course of anti-tuberculosis (TB) drugs.
On examination, she was vitally stable. Dermatological assessment showed few scattered vesicular lesions over the left side of the abdominal wall, back, and left thigh in the L4-L5 dermatomes, indicating current active lesions. In addition, she had multiple hyperpigmented macules and patches pointing to previous inflammatory lesions (Figure 1).
Ocular and oropharynx assessments were clear. Her labs showed controlled value of HbA1c of 6.1%, normal liver and kidney function tests, and normal lipid profile. Serology workup was negative for hepatitis B, hepatitis C, and HIV. The patient was diagnosed as a case of herpes zoster based on her typical clinical presentation along with her history of recent vaccination. She was started on acyclovir 800 mg five times a day for seven days. The patient was followed after two and four weeks and she had significant improvement with no active lesions.
|
herpes zoster, postherpetic neuralgia, recombinant vaccine, shingrix, varicella-zoster virus
| Not supported with pagination yet
| null |
PMC4435384_01
|
Female
| 72
|
A 72-year-old woman presented with a 6-month history of intermittent right upper quadrant abdominal and right flank pain unrelated to food intake. She denied fever, chills, night sweats, or weight loss. She had a laparoscopic cholecystectomy performed 10 years prior for symptomatic gallstones. Physical examination revealed erythema and mild tenderness on the right lateral aspect of the upper abdomen. Laboratory tests were unremarkable. A computed tomography (CT) of the abdomen showed a complex 21 x 5.8 x 8.8-cm subhepatic fluid collection with internal septations, which fistulized through the abdominal wall, forming a 5.6 x 2-cm subcutaneous fluid collection in the right flank (Figures 1 and 2). A hepatobiliary iminodiacetic acid (HIDA) scan and a magnetic resonance cholangiopancreatography (MRCP) were normal and showed no evidence of a bile leak. Ultrasound-guided drainage of the abscess produced 60 mL of thick, greenish, non-purulent fluid. Examination of the aspirate showed proteinaceous material with few inflammatory cells and many degenerated structures, suspicious for echinococcal cyst, but too poorly preserved for definitive diagnosis. Empiric intravenous ceftriaxone was started after aspiration of the fluid. Bacterial, fungal, and mycobacterial cultures of the abscess were negative, and ceftriaxone was stopped after a week. Testing for Mycobacterium tuberculosis and Entamoeba were negative. The patient was started on albendazole for suspected echinococcosis.
A PAIR procedure (puncture, aspiration, injection, and re-aspiration) with instillation of hypertonic saline was then performed, and 180 mL of thick greenish-white fluid was aspirated. The patient completed 6 weeks of albendazole; however, her symptoms persisted. A repeat CT scan failed to show a decrease in the size of the abscess. During exploratory laparotomy, 500 mL of greenish, non-purulent fluid was drained. Additionally, 28 gallstones were evacuated from the cavity. Fluid cultures were again negative for bacterial, fungal, and mycobacterial organisms. The patient's symptoms resolved following the surgery. Repeat CT scan performed 1 month after the surgery showed complete resolution of the abscess and normal liver parenchyma (Figure 3).
| null | Not supported with pagination yet
| null |
PMC3806671_01
|
Male
| 60
|
A 60-year-old male patient presented to the gastroenterology clinic due to epigastric pain, heartburn and distension. His anamnesis revealed that these complaints had been present for about a year and that he was on medication due to them. In his medical history, he had only hypertension. His physical examination and laboratory test results were normal. Abdominal ultrasonography was normal as well. Based on these findings, upper gastrointestinal system endoscopy was planned. During endoscopic examination, an approximately 2 cm polyp with a lobulated surface was detected in the proximal gastric corpus and polypectomy was performed. Microscopic examination revealed a polyp consisted of glands, some of which presented cystic dilatation, and arranged back-to-back under gastric foveolar epithelium that covered the surface. On immunohistochemical examination, while MUC 5AC was positive in the gastric foveolar epithelium that covered the surface of the polyp and was negative in glandular structures, MUC 6 was found to be positive in the glands and negative on the surface of the polyp (fig. 1, fig. 2). Since the morphological appearance of the glands and the immunohistochemical MUC 6 positivity were consistent with pyloric glands, the lesion was reported as 'pyloric gland adenoma'. A gland that was covered with cells having hyperchromatic nuclei and presented pseudostratification in a focal area inside the polyp attracted attention. This area was considered as high-degree dysplasia since hyperchromatic nuclei had reached up to cell surface (fig. 3).
|
adenoma, endoscopy, pyloric glands
| Not supported with pagination yet
| null |
PMC4532050_01
|
Female
| 55
|
A 55-year-old woman, who was diagnosed as myelodysplastic syndrome, complained of double vision on lateral gaze at 34th hospital day. There was no history of pulmonary tuberculosis, hyppertension or diabetes mellitus. She never smoked or drank alcohol.
On admission, she showed a chronically ill-looking appearances. The vital signs were within normal range. On physical examination, she had slightly pale conjunctivae. Other physical examination did not show abnormal findings. Neurologic examination was negative.
Laboratory findings on admission showed that the white blood cell count was 28,000/mm3 with 2 percent blasts and 12 percent monocytes, the hemoglobin was 9.4gm/dL, the hematocrit was 28.6% and the platelet count was 21,000/mm3 (Fig. 1a). The cellularity of bone marrow was 90 percent with 17 percent blasts (Fig. 1b). A diagnosis of myelodysplastic syndrome and chronic myelomonocytic leukemia (CMML) was established and treatment was initiated with low dose cytosine-arabinoside.
One month later, she complained of double vision on both lateral gazes, especially, severe on the right. Magnetic resonance imaging (MRI) brain scan revealed small nodular density in the mid-brain (Fig. 3a). Cerebro-spinal fluid analysis was made. Cell morphologies were polymorphic and atypical monocytes and immature cells were seen (Fig. 2). The white blood cell count was 17,900/mm3 with 3 percent blasts and 16 percent monocytes, the hemoglobin level 7.5gm/dL, and platelet count 4,000/mm3. She was diagnosed as granulocytic sarcoma and treated with 2,520 cGy brain radiotherapy for 14 days. After radiotherapy, a follow-up magnetic resonance imaging brain scan revealed the disappearance of the lesion (Fig. 3b). Cerebro-spinal fluid cytology had returned to normal.
Five months later, she was rehospitalized with left side hemiplegia. Computed tomographic scan of the brain revealed 3x4cm sized, round, hyperdense masses with surrounding edema in the parenchyma of the brain (Fig. 3c). The white blood cell count at relapse was 86,100/mm3 with 5 percent blasts and 9 percent monocytes, the hemoglobin was 9.1gm/dL and the platelet count was 12,000/mm3. She was managed with conservative treatments, because of poor performance status, and died 6 month after diagnosis of granulocytic sarcoma.
| null | Not supported with pagination yet
| null |
PMC4440418_01
|
Female
| 47
|
A 47-year-old female was diagnosed to have mTBI subsequent to blunt trauma to the right temporal/periorbital region. She did not have loss of consciousness at the time of impact. However, she had headaches and executive deficits (poor focus/attention) for approximately five weeks post mTBI. Her initial fMRI scan with breath-hold challenge was performed two months after the concussion when her symptoms had significantly but not completely subsided. A follow-up fMRI scan with breath-hold challenge was performed one year later with her mTBI symptoms resolved.
In the breath-hold challenge, the patient was instructed via visual cues to do 6 epochs of 30-second breath-hold interleaved with 60-90 seconds of normal breathing. The total duration of the breath-hold protocol lasted 10 minutes. Vital signs including heart rhythm, respiration, blood pressure, end-tidal carbon dioxide level (PETCO2) and oxygen saturation were measured simultaneously with MRI acquisition to ensure that the patient performed the breath-holding task properly. For comparison, the same breath-hold protocol was applied onto five healthy male control subjects (age range, 27-35 years) without previous history of mTBI (HC1-5).
This study measured the changes of blood oxygenation dependent level (BOLD) fMRI signals and the imaging parameters were: TR = 2000 ms, TE = 30 ms, flip angle = 90 , FOV = 220 mm, matrix = 64x64, thickness = 5 mm, gap = 1 mm. The CVR map was generated by subjecting BOLD data acquired during breath-hold challenge to regression analysis. The BOLD data were imported into the software Analysis of Functional NeuroImage (AFNI) (National Institute of Mental Health, http://afni.nimh.nih.gov) for time-shift correction, motion correction, normalization and detrending. Simple regression with a regressor of the onset of breath-hold epochs was used. The map of percent BOLD signal changes per unit time of breath-hold was derived as the CVR responses. CVR map of the mTBI patient and individual healthy subject was registered onto their own anatomical scan and transformed to the standardized space of Talairach and Tournoux. In order to protect against type I error, we used Monte Carlo simulation to correct individual voxel probability threshold of p < 0.005 to the overall significance level to alpha<0.05 for multiple comparisons. Regions of breath-hold correlated change in cerebrovascular responses were clusters of at least 603 mm3 in which each voxel was consistently active along the time series: t(421) > 2.82, p < 0.005 uncorrected. Analysis of resultant statistical parameter maps for CVR were therefore at the overall corrected threshold of p < 0.05
The initial breath-hold fMRI scan at two months post concussion demonstrated hemispheric asymmetry of CVR extending from the frontal gray matter to parietal white matter (Figure 1). A larger extent of CVR abnormality found in left cerebral hemisphere is consistent with the right head impact and subsequent intracranial impact of the brain onto the inner wall of the skull on the left. Clear CVR asymmetry was observed in both gray and white matter in the frontal area. Besides the hemispheric asymmetry, MRI signal response time series in both gray and white matter was asynchronous with the referenced hypercapnic stimulus epochs in breath-hold challenge. In contrast, the MRI signal response time series of healthy control subjects in both gray and white matter followed closely the referenced hypercapnic stimulus time epochs in breath-hold challenges (Figure 2). The source of the difference in CVR between mTBI patient and healthy controls lies in the observation that gray and white matter MRI signal response time series of mTBI patient was asynchronous with the referenced breath-hold time epochs. Both the hemispheric asymmetry and the abnormal pattern of the MRI signal time series are powerful diagnostic markers for mTBI, making it possible to make a diagnosis for an individual patient with mTBI.
In the follow-up breath-hold fMRI scan one year later, hemispheric asymmetry of CVR was significantly reduced together with the normalization of MRI signal response time series that was becoming synchronous with the referenced breath-hold epochs, leading to the normalization of CVR responses. We believe that the follow-up hypercapnic fMRI findings demonstrate objective evidence for mTBI recovery, consistent with the resolution of the patients' post-concussion symptoms. As is common in patients with mTBI, no brain lesion or vascular lesion was identified by the high resolution T1-weighted MPRAGE, the clinical T2-weighted FLAIR and the MR angiography scans in both initial and follow-up scan sessions.
|
cerebrovascular reactivity, functional magnetic resonance imaging, mild brain injury
| Not supported with pagination yet
| null |
PMC10371696_03
|
Male
| 28
|
A 28-year-old Bangladeshi male presented with two weeks history of fever (temperature 39.0 C) and bilateral knee and left ankle pain and swelling.
Laboratory workup showed leukocytosis (WBC 23 x 103\microl), very high CRP (278 mg\l), and elevated ESR 42 mm/hr. His left knee synovial fluid (SF) WBC count was 12,188/microl. Blood and synovial fluid cultures were negative, and TB QuantiFERON was negative. Later, his HLAB27 came back positive; as he continued to spike a fever, a CT scan of the abdomen was done which showed mild hepatosplenomegaly; bone marrow aspiration revealed no infection or malignancy. After excluding infection as a cause of his fever, a trial of diclofenac potassium 50 mg BID was given and intraarticular 80 mg methylprednisolone was injected into his left knee.
He was diagnosed with peripheral spondyloarthritis and methotrexate, and then adalimumab were started with good control of his disease.
| null | Not supported with pagination yet
| null |
PMC10371696_04
|
Male
| 23
|
A 23-year-old Nepalese male presented with 10 days history of fever (temperature 38.6 C) and acute left knee pain and swelling. Laboratory tests revealed leukocytosis (WBC 15 x 103microl) and very high CRP 195 mg\l. His left knee synovial fluid analysis showed WBC count of 55,375/microl, and no crystals were seen. The patient underwent arthroscopy and washout, and IV antibiotic was started. His blood cultures and synovial fluid cultures were negative. Blood TB gold QuantiFERON and synovial fluid PCR for TB were negative.
Three weeks after discharge, he presented to the clinic with recurrent left knee effusion and he started developing right knee pain and mild swelling.
His inflammatory arthritis workup revealed positive HLAB-27. His sacroiliac joint MRI was normal.
The diagnosis of peripheral spondyloarthropathy was made. He was given an intraarticular steroid injection in his left knee, and sulfasalazine was started. During his subsequent follow-up visits, he had a very good response and no more attacks of arthritis were observed.
| null | Not supported with pagination yet
| null |
PMC10439794_01
|
Male
| 37
|
A 37-year-old male, office worker, began to suffer from cough, breathing difficulty and upper back pain six months ago; afterwards, he experienced worsening shortness of breath, as well as chest wall and upper back swelling and pain. He denied expectoration, fever, or hemoptysis prior to admission. He denied any birds and poultry contact, aspiration, or recent travel. Noteworthily, he suffered from poorly controlled diabetes and severe periodontal disease for 3 years, which induced more than 12 teeth loss.
After hospitalization, he developed fever with a maximum body temperature of 39 C. He felt the left upper back haphalgesia, while the anterior and lateral chest wall swelling and pain without skin temperature arisen. Pressure sore (1 x 1 cm) on the buttock was noted by physical examination. The laboratory tests demonstrated increased blood glucose (32 mmol/L), procalcitonin (1.41 ng/mL), and white blood cell counts (18.28x109/L) with 92.0% neutrophils, but without acute hypoxemic respiratory failure on room air (arterial blood gas: PH 7.49; PCO2 43.2 mmHg; PAO2 68.7 mmHg; HCO3 26.6 mEq/L). Liver and renal function, autoimmune antibody tests, ANCA detection, as well as molecular assay for tuberculosis were otherwise unremarkable. Transthoracic echocardiography and blood culture found no evidence of infective endocarditis or bacteraemia.
The PET/CT and thoracic MRI revealed multiple cavity lesions in the middle and upper lungs, intermuscular abscess on the lateral chest and abdominal wall, as well as T3-T4 thoracic vertebral destruction (Figures 1 and 2). Transbronchial lung biopsy revealed hyperplastic epithelioid foci with numerous neutrophil infiltration, indicating pyogenic granulomatous inflammation. The mNGS in bronchoalveolar lavage fluid (BALF) and lung tissue samples detected EB virus and staphylococcus epidermidis, but no tuberculosis or aspergillosis, whereas the thoracic abscess continued to deteriorate, which had no response to empirical antifungal agents. Furthermore, the bacterial culture onsite and mNGS in thoracic wall intermuscular abscess, obtained from percutaneous puncture under ultrasound guidance, indicated Streptococcus constellatus, which was susceptible to vancomycin, penicillin G, linezolid, cefotaxime and levofloxacin by drug sensitivity test. Afterwards, his fever allayed, the thoracic swelling and pain alleviated, and the lung cavity lesions were shrunk following the treatment with piperacillin-tazobactam (4.5g q8h) and levofloxacin (0.5g qd), as well as drainage of thoracic wall intermuscular abscess (Figure 3B and E), compared with those of pre-therapy (Figure 3A and D). The duration of antibiotic use was eight weeks. Three months post-discharge, this patient was clinically stable, the chest CT showed the lung cavity lesions were mostly resolution, as well as the thoracic wall intermuscular abscess was significantly decreased (Figure 3C and F), whereas this patient refused thoracic spinal surgery for his own concern of surgical risk and financial reason.
|
streptococcus constellatus, metagenomic next‑generation sequencing, pulmonary cavity, thoracic wall abscess, vertebral destruction
|
PET/CT imaging on pulmonary cavity lesions and thoracic wall abscess. (A and B) CT imaging on multiple lung cavity lesions in the upper lobes.
|
|
PMC10439794_01
|
Male
| 37
|
A 37-year-old male, office worker, began to suffer from cough, breathing difficulty and upper back pain six months ago; afterwards, he experienced worsening shortness of breath, as well as chest wall and upper back swelling and pain. He denied expectoration, fever, or hemoptysis prior to admission. He denied any birds and poultry contact, aspiration, or recent travel. Noteworthily, he suffered from poorly controlled diabetes and severe periodontal disease for 3 years, which induced more than 12 teeth loss.
After hospitalization, he developed fever with a maximum body temperature of 39 C. He felt the left upper back haphalgesia, while the anterior and lateral chest wall swelling and pain without skin temperature arisen. Pressure sore (1 x 1 cm) on the buttock was noted by physical examination. The laboratory tests demonstrated increased blood glucose (32 mmol/L), procalcitonin (1.41 ng/mL), and white blood cell counts (18.28x109/L) with 92.0% neutrophils, but without acute hypoxemic respiratory failure on room air (arterial blood gas: PH 7.49; PCO2 43.2 mmHg; PAO2 68.7 mmHg; HCO3 26.6 mEq/L). Liver and renal function, autoimmune antibody tests, ANCA detection, as well as molecular assay for tuberculosis were otherwise unremarkable. Transthoracic echocardiography and blood culture found no evidence of infective endocarditis or bacteraemia.
The PET/CT and thoracic MRI revealed multiple cavity lesions in the middle and upper lungs, intermuscular abscess on the lateral chest and abdominal wall, as well as T3-T4 thoracic vertebral destruction (Figures 1 and 2). Transbronchial lung biopsy revealed hyperplastic epithelioid foci with numerous neutrophil infiltration, indicating pyogenic granulomatous inflammation. The mNGS in bronchoalveolar lavage fluid (BALF) and lung tissue samples detected EB virus and staphylococcus epidermidis, but no tuberculosis or aspergillosis, whereas the thoracic abscess continued to deteriorate, which had no response to empirical antifungal agents. Furthermore, the bacterial culture onsite and mNGS in thoracic wall intermuscular abscess, obtained from percutaneous puncture under ultrasound guidance, indicated Streptococcus constellatus, which was susceptible to vancomycin, penicillin G, linezolid, cefotaxime and levofloxacin by drug sensitivity test. Afterwards, his fever allayed, the thoracic swelling and pain alleviated, and the lung cavity lesions were shrunk following the treatment with piperacillin-tazobactam (4.5g q8h) and levofloxacin (0.5g qd), as well as drainage of thoracic wall intermuscular abscess (Figure 3B and E), compared with those of pre-therapy (Figure 3A and D). The duration of antibiotic use was eight weeks. Three months post-discharge, this patient was clinically stable, the chest CT showed the lung cavity lesions were mostly resolution, as well as the thoracic wall intermuscular abscess was significantly decreased (Figure 3C and F), whereas this patient refused thoracic spinal surgery for his own concern of surgical risk and financial reason.
|
streptococcus constellatus, metagenomic next‑generation sequencing, pulmonary cavity, thoracic wall abscess, vertebral destruction
|
PET/CT imaging on pulmonary cavity lesions and thoracic wall abscess. (A and B) CT imaging on multiple lung cavity lesions in the upper lobes.
|
|
PMC7490557_01
|
Male
| 0
|
In November 2018, an 8-month-old boy was hospitalized due to fever and cough for 10 days. Even though the patient was susceptible to upper respiratory tract infections, he had no history of severe infectious diseases nor was he allergic to food or drugs. The patient was born at term with no complications. His family history revealed that his maternal uncle died early in infancy due to pneumonia; the patient's brother was 4 years old and healthy. On admission, the patient underwent physical examination; a few moist rales were observed in both lungs. Laboratory findings showed high IgE and IgA levels (Table 1). Test results for complement levels, complete blood count, and mitogen-induced T-cells were normal. Neutrophil phagocytosis assays revealed that the patient's peripheral blood neutrophils presented impaired phagocytotic functions (Fig. 1). After PMA stimulation, only 4.65% of the patient neutrophils could devour APC beads while in the other samples, normal phagocytosis was observed in >20% neutrophils. Serological tests did not reveal infection with human immunodeficiency virus and he was antibody-negative for some common viruses, including cytomegalovirus (CMV), Epstein-Barr virus (EBV), and other herpes viruses. Additionally, the patient tested negative for Mycobacterium tuberculosis and Mycoplasmal pneumonia by pharyngeal swab antigen test and cultures. High resolution computed tomography (HRCT) revealed multiple patchy infiltrating shadows and a diffuse consolidation with air bronchograms on admission (Fig. 2). His condition deteriorated rapidly after admission to the hospital, quickly progressing to respiratory failure, shock, and organ dysfunction and failure. He died three days after admission despite being administered anti-infective therapy (vancomycin and meropenem) and all intensive care (transfusion, mechanical ventilation, and continuous blood purification). After his death, sputum and blood cultures yielded multiple drug-resistant Burkholderia cepacia, whereas microscopic examination of the transbronchial lung biopsy (TBLB) revealed Aspergillus hyphae.
The family tree of the patient (Fig. 3A) includes three generations with a total of eight people. The proband has been diagnosed with X-linked CGD. Apart from his uncle's death in infancy because of pneumonia, others have no history of recurrent or severe respiratory infection. The proband detected a novel mutation on the CYBB gene in the patient, a G deletion in locus c.1234 on the CYBB gene of X chromosome (c.1234delG) (Fig. 3B). This mutation shifts valine to serine at residue 413 creating a premature stop codon (p. V413Sfs*22). Besides, the same mutation was detected on one of the X chromosomes of his mother, aunt, and grandmother, who we called carriers. However, no CYBB gene mutation was detected in the infant's father, his other uncle or his brother. Thus, it was clear that the mutated gene came from his mother who inherited it from his grandmother.
|
aspergillus, burkholderia cepacia, cybb gene, chronic granulomatous disease, mutation
| Not supported with pagination yet
| null |
PMC2808561_01
|
Male
| 50
|
A 50-yr-old man visited our hospital because of intermittent fever associated with cough, sputum, generalized myalgia and general weakness for about four weeks. He had lived in Indonesia for twenty years for business, and visited a local hospital in Indonesia and was treated for typhoid fever without improvement of symptoms. He was previously healthy and had no history of diabetes. Initial chest radiograph and computed tomography (CT) images showed multiple satellite nodules in the left lower and upper lobes, and judging from that roentgenographic examination, tuberculosis was the most probable diagnosis (Fig. 1). Bronchoscopy showed no endobronchial lesion and washing cytology and culture were also negative. We prescribed moxifloxacin but his symptoms showed no improvement. Three months later we rechecked chest radiograph and CT findings, and found new infiltration in the left lower lobe and improvement of lesions in the left upper and lower lobes (Fig. 2). So he was admitted to our hospital for further evaluation. On physical examination initial body temperature was 38C and there was no other abnormal finding. Laboratory findings included white blood cell count of 5,240/microL and hemoglobin value of 11.6 g/dL. Hepatic function and renal function were normal. IgA was 227 mg/dL (normal range: 90-400 mg/dL) and anti-neutrophilic cytoplasmic antibodies with cytoplasmic staining pattern (CANCA) was negative.
Bronchoscopy was done once more and no endobronchial lesion was found. However, secretion was seen in left lower lobe, so washing cytology and culture was done. Cytology was negative but a species of bacteria grew on blood agar media (Fig. 3). It was Gram-negative, non-spore forming and showed as a safety pin shaped organism on microscopic examination (Fig. 4). By biochemical examination of API20NE strip and VITEK GNI card (BioMerieux, Inc., Hazelwood, U.S.A.), the organism was identified as Burkholderia pseudomallei. On DNA sequencing of 16S ribosomal RNA, it was compatible with B. pseudomallei with 100% homology and formed a characteristic rugose colony on blood agar.
We prescribed ceftazidime 2 g intravenously every 8 hr and he did not complain of intermittent fever any more. The cough, sputum and general condition improved slowly. After one week of intravenous ceftazidime, he was discharged with oral amoxicillin-clavulanate (750 mg every 8 hr). One month later the cough and sputum were almost disappeared but his general weakness persisted although it was also improving.
Four months later we rechecked chest CT to show an improvement of infiltration in left lower lobe. He said his condition was as good as his previous state before suffering from melioidosis. One month later, we stopped administrating oral antibiotics to him, which resulted in him taking amoxicillin-clavulanate for total five months.
| null | Not supported with pagination yet
| null |
PMC9041600_04
|
Female
| 46
|
In July 2019, a 46-years-old woman was admitted to our Haematological Unit for an hyperleucocytic AML (WBC 35,000/microL). The immunophenotype analysis on bone marrow aspirate showed > 80% blasts cells positive for CD117, CD13, CD33, CD34, CD38 and aberrant CD7. At the diagnosis, a normal 46 XX karyotype and FLT3-ITD and NPM1B mutations were present. The disease was completely resistant to the induction chemotherapy with the 3 + 7 (daunorubicin 60 mg/m2 days 1,2,3, cytosine arabinoside 100 mg/m2 days 1-7) plus midostaurin (50 mg every 12 hours at days 8-21) regimen. For this reason, at the end of August 2019 a reinduction therapy with the FLA-IDA regimen (fludarabine 50 mg/m2 at days 1-5 + cytosine arabinoside 2000 mg/m2 at days 1-5 + idarubicin 10 mg/m2 at days 3,4,5) was started, with a partial remission due to persistence of 7% blasts on bone marrow.
On September 2019, the patient received a FLA3 chemotherapy (fludarabine 50 mg/m2 at days 1-3 plus cytosine arabinoside 2000 mg/m2 at days 1-3) as a bridge for bone marrow transplantation during the iatrogenic aplastic phase. After the TBF (thiotepa, busulfan, fludarabine) conditioning and a graft versus host disease (GVHD) prophylaxis with post-transplant cyclophosphamide, an haploidentical bone marrow transplantation was performed on October 28th, 2019 (donor: brother).
The re-evaluation of disease at 30, 60, 90 days after the transplant showed the achievement and the maintenance of a haematological complete remission, a FLT3-ITD and NPM1B negativity, and a complete chimerism with 100% donor cells. In February 2020, during the cyclosporine reduction phase, a chronic mild gastric GVHD was successfully treated with beclomethasone dipropionate. Unfortunately, 6 months after transplantation the patient developed a disease relapse: for this reason, a third induction line therapy with MEC (mitoxantrone 6 mg/m2 at days 1-6 plus etoposide 80 mg/m2 at days 1-6 and cytosine arabinoside 1000 mg/m2 at days 1-6) regimen was administered starting from May 2020, showing a complete resistance. Moreover, a very severe septic shock caused by resistant to carbapenems (KPC positive) E. coli and K. Pneumoniae strains complicated the chemotherapy.
From June 18th 2020, the patient started gilteritinib 40 mg three times daily, which was stopped on July 30th 2020 due to a CVC-related infection with second septic shock caused by extended spectrum beta lactamase (ESBL) positive K. Pneumoniae. After the resolution of the severe infection, the treatment with gilteritinib was re-started at the dose of 40 mg two times daily due to the persistent grade III neutropenia. During the gilteritinib therapy with a reduced dose, the patient experienced a progressive clinical improvement and was transfusion-free; the neutrophils count progressive recovered according to the progressive reduction blasts count, as well as quantitative PCR for FLT3-ITD and NPM1B mutation on bone marrow with consensual near complete chimerism recovery (Figure 1). After 3.5 months of gilteritinib therapy (October 2020), the patient was in good clinical condition, neutropenia was solved (neutrophils 3700/microL) and noteworthy she achieved the second haematological complete remission with minimal molecular disease positivity for FLT3-ITD e NPM1B mutation and a near complete chimerism (Figure 2). At that time, the patient was considered eligible by another centre for the enrolment in a Phase 1/2 clinical trial on allogeneic CIK (Cytokine induced Killer) cells from haploidentical donor with a reduced risk of induction of GVHD and increased antileukemia activity following the in vitro expansion process. This experimental therapy was administered from December 2nd 2020 to January 13th 2021: the patient is actually GVHD free and waiting for a re-evaluation of the leukemic disease.
|
flt3, acute myeloid leukemia, gilteritinib, midostaurin
| Not supported with pagination yet
| null |
PMC6497116_01
|
Male
| 12
|
A 12-year-old boy with previous history of upper respiratory tract infection was referred to outpatient clinic of Mofid Children Hospital because of legs pain, walking instability, and lower extremity weakness. His problems were started since 5 days ago. The past medical history revealed that he was a third child of the family (III/III). There was a familiar relationship between his parents (cousin relationship). Furthermore, his 22-year-old sister had a history of lupus. His mother had also the history of three abortions. On physical examinations, he had decreased in deep tendon reflexes (DTR). His first biochemical tests results were as following: white blood count = 3,650/mm3 (neutrophil: 44% and lymphocyte: 56%); hemoglobin = 13 mg/dL; and platelet = 259,000/mm3, erythrocyte sedimentation rate = 29 mm/hrs; C-reactive protein = negative. Laboratory tests for antinuclear antibodies (ANA) and anti-ds-DNA were provided to rule out lupus. The results of laboratory tests were positive for both ANA (1:2,560) and anti-ds-DNA antibodies. Cerebellar examination revealed abnormal finger-to-nose and tandem gait tests. Analysis of cerebrospinal fluid, brain magnetic resonance imaging (MRI), chest X-ray and abdominal-pelvic ultrasonography results were within normal limits. His electromyography (EMG) and nerve conductive velocity (NCV) study showed absent in compound sensory nerve action potentials. Therefore, he was diagnosed as having GBS according to Asbury criteria and admitted and received intravenous immunoglobulin (IVIG). However, there was no appropriate response by treatment and he developed severe headaches which were associated with disrupted sleep. Due to the presence of leukopenia during his admission, bone marrow aspiration was provided which was normal.
Considering polyneuropathy involving all limbs diagnosis was in favor of acute inflammatory demyelinating polyneuropathy. Cardiology consult was performed that showed mild mitral regurgitation and tricuspid regurgitation. Additional biochemical test analysis, as like as creatine phosphokinase; lactate dehydrogenase; thyroid function tests; Immunoglobulin levels, anticardiolipins antibodies; anti-smith antibodies; beta2 glycoproteins antibodies; and lupus anti-coagulant all were negative or within normal limits. Serological test results for brucellosis, mononucleosis, tuberculosis, bacterial and fungal and his throat culture were also negative. Random and 24 hrs urinalysis test results were normal. The patient general condition was relatively improved during the hospitalization. Gait disorder was improved and the patient was discharged to be followed up.
Two weeks later, the patient was again admitted to our hospital with the complaint of legs pain, loss of balance, walking instability, lower extremity weakness, and anorexia. He had also ataxic gait. Cerebellar test disorders and DTR in lower limbs were observed as abnormal examinations. Distal force in upper and lower limbs was decreased. The patient was then admitted again in neurology ward. Lumbar puncture was performed again and auto-antibodies titration for GBS were checked which were in normal ranges. The serum level of vitamin B12 and vitamin E was measured to rule out the neuropathy that was normal. Total spinal MRI was normal. EMG and NCV tests were performed which reported chronic mild sensory motor demyelination in upper and lower limbs. The other biochemical and CBC tests results were performed again and showed normal results. The patient's general condition was gradually improved after supportive care and then be discharged.
However, he admitted again because of decreased force in upper and lower limbs (2/5), and absence of DTR in lower limbs due to the possibility of chronic inflammatory demyelinating polyneuropathy (CIDP). EMG and NCV tests showed chronic mild sensory motor demyelination in upper and lower limbs. Polyneuropathy involving all limbs suggestion was provided for CIDP. After CIDP diagnosis, the patient treated with the pulse of methylprednisolone for 5 days. He received oral prednisolone for 3 months and then gradually tapered. One month after stopping prednisone therapy, the patient developed severe upper and lower limbs weakness, walking instability, and gait disorders. The patient had decreased DTR in lower limbs under physical examinations. Finger-to-nose problems and tandem gait disorders were observed under cerebellar tests. Laboratory tests were performed again due to the possibility of lupus. The test results were as follow: anti GM IgM+, anti-CD10 IgG+, ANA+ (1:2,560), anti-ds-DNA+, and beta2 glycoprotein IgM+. Proteinuria and hematuria were found under urinalysis. Leukopenia was found under several CBC tests analysis accompanied with low levels of complements. Eventually, the boy was transferred to division of Pediatric Rheumatology and treated with the pulse of methylprednisolone, hydroxychloroquine, and pulse of cyclophosphamide. His neurological and physical symptoms improved and had complete neurological recovery several months after his initial presentation.
|
guillain–barre syndrome, chronic inflammatory demyelinating polyneuropathy, nerve disorders, systemic lupus erythematosus
| Not supported with pagination yet
| null |
PMC9981973_01
|
Male
| 33
|
We present a 33-year-old Black male with schizoaffective disorder - bipolar type, generalized anxiety disorder, stimulant use disorder (methamphetamine type), phencyclidine use disorder, and cannabis use disorder. The patient's illness at baseline includes residual auditory hallucinations but no suicidal or homicidal ideations. Two months before admission, the patient's outpatient medication regimen consisted of valproic acid 1000 mg daily, buspirone 15 mg three times a day, trazodone 50 mg daily, gabapentin 900 mg daily, quetiapine 300 mg daily, and paliperidone palmitate 156 mg intramuscular injections every 4 weeks. The patient's outpatient team reported that the patient frequently nasally ingested his buspirone and had a history of difficulty with medication adherence.
Prior to admission, the patient had abandoned his domicile and 4 days later was found with alcohol intoxication by police and making suicidal statements. The patient was placed on an involuntary psychiatric hold while receiving a medical evaluation. Admission labs were unremarkable except for urine toxicology positive for amphetamines and tetrahydrocannabinol. He was endorsing bizarre and paranoid delusions, such as believing people surrounding him were aliens and demons. Furthermore, he began refusing hospital food, believing that it was poisoned.
On admission to the inpatient psychiatric unit, the patient developed increasing agitation and was offered oral haloperidol 5 mg, lorazepam 2 mg, and diphenhydramine 50 mg. Still, he refused and then later received them via intramuscular injections after escalating violence. The patient was offered oral risperidone 2 mg daily to target ongoing psychotic symptoms with diphenhydramine 25 mg nightly; however, the patient refused to accept those medications. He later accepted treatment with oral chlorpromazine 150 mg daily and showed some decrease in agitation.
On the 7th day of hospitalization, the patient requested that his home medication regimen be restarted and complained of uncontrolled anxiety. The patient was initiated on valproic acid 1000 mg daily and buspirone 5 mg three times a day. After 48 h of initiating buspirone, the patient exhibited increased bizarre and paranoid delusions, agitation, homicidal ideations, and disorganized thinking. The patient began refusing his oral medications, claiming he was abducted by aliens and had frequent verbal outbursts toward staff. Chlorpromazine dosage was titrated up to 300 mg daily; however, the patient continued to refuse doses frequently, and his antipsychotic medication was switched to quetiapine XR (extended-release) 300 mg. Valproic acid was also discontinued due to the patient's inability to cooperate with laboratory monitoring. Quetiapine XR was titrated up to 800 mg and then discontinued due to a lack of therapeutic response. The patient was then started on oral haloperidol and titrated to a dose of 10 mg twice daily. After 8 days, buspirone was discontinued as the patient was found to be hiding buspirone in his mouth and later admitted to reserving it for nasal ingestion. Two days after the discontinuation of buspirone, the patient was calm, in behavioral control, and cooperative with the treatment team.
The patient was on a regimen of haloperidol 30 mg daily and benztropine 4 mg daily while awaiting discharge to a locked psychiatric rehabilitation center. During that time, the patient's average daily meal intake was 76%, and his medications were switched from haloperidol to a trial of oral Risperdal and, finally, the administration of long-acting injectable paliperidone palmitate 234 mg.
On hospital day 62, the patient insisted on restarting buspirone for anxiety, which was re-initiated. Two days later, the patient's paranoid delusions about his food being poisoned returned, and his oral intake began to decline significantly. The patient only accepted pre-packaged food during that time, which was a behavioral change compared to the previous. After 4 days, the patient exhibited an increase in aggression. Clinical Global Impressions Severity scale (CGI-S) scored 6 (severely ill) at that time. Buspirone was discontinued on hospital day 72. Over the course of 10 days that the patient received buspirone, his oral intake averaged 32% daily, and he required high amounts of behavioral prompting for feeding. It was noted in behavioral notes during that time that the patient had been found to be nasally ingesting buspirone again. One day after buspirone was discontinued, the patient's meal intake increased to 83%, with adequate oral intake for the remainder of psychiatric hospitalization. In addition, the patient's Clinical Global Impressions Improvement scale (CGI-I) scored 2 (much improved). Ultimately, the patient responded well to paliperidone palmitate 234 mg intramuscular every 4 weeks, which was continued throughout the remainder of his hospital course. Buspirone was avoided for the remainder of the hospitalization, and the patient was discharged to a psychiatric rehabilitation center.
|
adverse reaction, anxiolytic, drug abuse, methamphetamine, nasal inhalation, nasal insufflation, psychopharmacology
| Not supported with pagination yet
| null |
PMC8202257_01
|
Female
| 17
|
A 17-year-old female with history of obesity, pre-diabetes, and marijuana use presented for care in the setting of progressive left-sided ophthalmoparesis and worsening headache. Prior to admission, she had a 1-month history of left frontotemporal and retro-orbital headaches accompanied by photophobia, nausea, vomiting, and localized numbness over the left temple. The headaches often woke her up from sleep, and while previously intermittent, they had been constant for the 3 weeks prior to presentation. Over the preceding 2 weeks, the patient developed persistent, binocular diplopia, which eventually progressed to complete ophthalmoplegia. She also reported 1 week of intermittent left-sided mandibular pain and finally developed sensory changes over the maxillary (V2) division of the left trigeminal nerve. On examination, she was found to have CN III and VI palsies despite an unremarkable head computed tomography (CT). The patient was transferred to our hospital for inpatient evaluation and management.
At admission, she was afebrile, with a blood pressure of 156/83 mmHg; vital signs were otherwise normal for age. She was mildly ill-appearing and obese, weighing 112 kg. Pupils were 5 mm and briskly reactive to direct light, with sluggish restriction of the left pupil to indirect light. Funduscopic examination revealed sharp optic margins without pallor. Extraocular movements were markedly abnormal in the left eye with near-complete ophthalmoplegia and minimal upward and downward gaze. She had marked ptosis of the left eye, most consistent with severe oculomotor and abducens nerve palsies. Visual fields were full bilaterally. No facial asymmetry was noted. Trigeminal sensory examination revealed left-sided hyperesthesia in the V1 and V2 distributions.
Following consultation with Pediatric Neurology and Ophthalmology, the patient underwent an extensive workup revealing a normal complete blood count (CBC) and comprehensive metabolic panel (CMP) (except for glucose of 170), HbA1C of 6.1, angiotensin-converting enzyme (ACE) of 14 U/L (adult range, 16-85 U/L), negative serum autoimmune studies (antinuclear antibody (ANA), cyclic citrullinated peptide (CCP), anti-SSA/Ro (Sjogren's syndrome-related antigen A) Ab, anti-SSB/Ro (Sjogren's syndrome-related antigen B) Ab, Smith antibody (Sm Ab), ribonucleoprotein antibody (RNP Ab), topoisomerase I antibody (Scl 70 Ab), topoisomerase I antibody (Jo1 Ab), rheumatoid factor (RF), myeloperoxidase antibody (MPO Ab), proteinase 3 Ab), normal lactate dehydrogenase (LDH) and uric acid, and negative serum electrophoresis for monoclonal proteins. Infectious workup was negative for Borrelia burgdorferi, syphilis IgG Ab, CSF-VDRL (Venereal Disease Research Laboratory), and QFT-TB (QuantiFERON-TB) Gold. Bacterial, fungal, and mycobacterial cultures and acid-fast smear were negative. A lumbar puncture demonstrated normal CSF studies other than lymphocytosis (92%). CSF ACE was negative, and IgG, albumin, and flow cytometry were normal.
MRI of the brain and orbits demonstrated an extra-axial enhancing, ill-defined lesion centered in the left cavernous sinus (CS), including involvement of Meckel's cave, superior orbital fissure, orbital apex, foramen rotundum, foramen ovale, and middle cranial fossa (Figure 1). Mild narrowing of the patent right cavernous internal carotid artery was also described. The lesion was noted to approach but not involve the optic nerve.
Findings were consistent with THS and the patient was initiated on high-dose oral steroids. She demonstrated improvement in severity of headache within 12 hours of steroid initiation and complete resolution of headache by 24 hours. CN deficits remained unchanged at discharge (24 hours after initiation of steroids).
One month following discharge, the patient described resolution of headache and improved extraocular movements and diplopia. Repeat imaging at this time noted a "slight decrease in the size of the lesion." Unfortunately, the patient discontinued her 10-week steroid course after approximately 1 month. Shortly after discontinuing treatment, she began to experience new-onset, left-sided facial droop, consistent with a CN VII palsy, as well as recurrence of ptosis, diplopia, ophthalmoplegia, and hyperalgesia in V2. Follow-up imaging revealed mildly expanded asymmetric enhancement in the left cavernous sinus and Meckel's cave with extension along V3 through foramen ovale and V2 through foramen rotundum to the pterygopalatine fossa. New enhancement visualized in the distal left internal auditory canal, extending along the facial nerve inferiorly to the visualized upper parotid gland.
High-dose steroids were initiated once more. The patient was followed by Pediatric Neurology at 1 and 2 years since completion of treatment and noted to have complete resolution of symptoms.
|
tolosa–hunt syndrome, adolescent, cranial nerve deficit, cranial nerve palsy, headache, ophthalmoparesis, ophthalmoplegia, pediatric
| Not supported with pagination yet
| null |
PMC10439354_01
|
Female
| 67
|
A 67-year-old female Caucasian patient, retired teacher, severe cigarette smoker (40 pack-years), with advanced lung cancer (adenocarcinoma cT4N3M1c CS IV), was admitted to the 2nd Department of Lung Diseases and Tuberculosis for oncological treatment. The diagnosis of lung cancer was made in the Department of Internal Medicine of the General Hospital using fine-needle biopsy of metastases to the subcutaneous tissue. No tissue samples were available for molecular diagnostics. Severe acute respiratory syndrome coronavirus-2 infection was ruled out by negative reverse transcription polymerase chain reaction (RT-PCR) on nasopharyngeal swabs.
She had a history of chronic obstructive pulmonary disease (Global Initiative for Chronic Obstructive Lung Disease (GOLD) stage 4D), paroxysmal atrial fibrillation on anticoagulant treatment with apixaban (5 mg, twice a day).
At the time of admission, the patient was in poor condition. The Eastern Cooperative Oncology Group Scale of Performance Status (ECOG PS) was rated at 3. She reported progressive dyspnoea, severe pain in the right scapula and spine of 7/8 points on the numerical rating scale (NRS).
Physical examination revealed tachypnoea (respiration rate 30 breaths per minute), peripheral cyanosis, multiple wheezing and rales on auscultation over the lungs. Oxygen saturation ( SpO 2) was 85% with 6 L per minute oxygen therapy with the nasal cannula (fraction of inspired oxygen ( FiO 2): 0.44).
Laboratory tests have shown elevated levels of C-reactive protein, mild thrombocytopenia. In arterial blood gas (ABG) type 2 RF was found (pH: 7.303; carbon dioxide partial pressure (pCO 2): 67.6 mmHg; oxygen partial pressure (pO 2): 66.2 mmHg, HCO 3: 27.9 mmol/L; SatO 2: 90.5%).
Chest radiograph and computed tomography confirmed a tumor in the lower lobe of the left lung, metastases to the right lung, lymph nodes, bones and subcutaneous tissue ( Figure 1).
NIV was implemented for treatment. The target ventilation settings were: spontaneous/timed (S/T) mode, inspiratory positive airway pressure (IPAP) 16 cmH 2O, expiratory positive airway pressure (EPAP) 7 cmH 2O, VT 450 mL, FiO 2 55%, backup rate 14 breaths per minute. For the first three days it was used around the clock, with breaks only for meals, drinking and care activities, during which passive oxygen therapy was used with a nasal cannula ( FiO 2: 0.3). The therapy was well tolerated. ABG control confirmed systematic, gradual improvement (pH: 7.416; pCO 2: 58.9 mmHg; pO 2: 66.5 mmHg, HCO 3 -: 33.7 mmol/L; SatO 2: 93.0%). During the next seven days, ventilation time was reduced to the night and approximately 4 hours during the day. Oxygen therapy ( FiO 2: 0.28) was administered for the remainder of the day.
FB at NIV support was also performed during hospitalization. A Philips Respironics Trilogy 100 device was used with a Philips Respironics AF531 naso-oral mask and a bronchoscopy elbow (S/T mode, IPAP 20 cmH 2O, EPAP 7 cmH 2O, VT 450 mL, FiO 2: 90-95%, backup rate 18 breaths per minute). The minimum SpO 2 value during the procedure was 85%. A sample was taken by forceps biopsy from a neoplastic mass in the lower lobe of the left lung. Additional molecular testing did not confirm the presence of predictive markers (epidermal growth factor receptor, anaplastic lymphoma kinase, c-ROS oncogene 1) and programmed death receptor-1 expression allowing the use of targeted therapy or immunotherapy.
Pharmacological treatment included broad-spectrum antibiotics (meropenem 3 g intravenously daily, levofloxacin 500 mg twice daily), systemic and inhaled glucocorticosteroids, short acting bronchodilators, mucolytics. Pain management based on NRS was escalated. Combination of non-steroidal anti-inflammatory drugs (ketoprofen 100 mg twice daily), oxycodone with naloxone (20 mg + 10 mg twice daily), fentanyl (50 mug transdermally every 72 hours), pregabalin (150 mg twice daily) and glucocorticosteroid (dexamethasone 8 mg daily) allowed for good pain control (2/3 points on the NRS). Palliative radiotherapy was also performed to the area of the right scapula and surrounding chest wall (a single dose of 8 Gy in one fraction).
Combined pharmacological treatment, NIV and palliative radiotherapy of the chest wall significantly improved the patient's condition. ECOG PS 2 has been achieved. After an acute phase of an infectious exacerbation of COPD complicated with type 2 respiratory failure, the patient was qualified to palliative chemotherapy based on the decision of multi-disciplinary team, initially with pemetrexed as monotherapy. NIV and oxygen therapy were continued on an outpatient basis. A timeline with all relevant data from this clinical case is available in Figure 2.
|
cancer, flexible bronchoscopy, non-invasive ventilation, palliative care, respiratory failure
| Not supported with pagination yet
| null |
PMC6324106_01
|
Female
| 38
|
A 38-year-old mother and her two children, a boy aged 10 years and a girl aged 5 years, were referred with eye and joint symptoms present over several years. The mother was first seen by us 12 years ago with granulomatous uveitis and arthritis. She reported a history of childhood onset arthritis. Right eye vision was 3/60, N36, with active panuveitis in the right eye and no perception of light in the left eye. She had associated secondary glaucoma. She was suspected to have JIA-associated uveitis and was treated with systemic and topical steroids. She developed secondary glaucoma and was started on topical anti-glaucoma medication. At 1-year follow-up, when her inflammation was under control, she had developed complicated cataract with glaucoma and underwent phacoemulsification with intraocular lens in the bag implantation with trabeculectomy. Post-operatively she had significant inflammation with multiple recurrences and a granulomatous type of uveitis, which was treated with a further course of systemic steroids and methotrexate. She was found to have choroidal granuloma in her right eye [Fig. 1b]. She was suspected to have sarcoid-related uveitis and was started on methotrexate. Rheumatological examination revealed very deforming arthritis of the small joints of her hands with flexion contractures at the proximal interphalangeal (PIP) joints [Fig. 2]. Her systemic and ocular inflammation resolved. At follow-up her uveitis and intraocular pressure (IOP) was under control, with vision in the right eye of 6/9, N6 maintained on topical non-steroidal anti-inflammatory drugs (NSAIDs) and weekly methotrexate.
The first child, a boy now 10 years, presented at 5 years of age with bilateral eye pain, occasional redness, and diminished vision. His vision was 6/12, N12 in both eyes and he had bilateral intermediate uveitis. He had a history of arthritis of both wrists and small joints of hands since the age of 4 years. Both the mother and the boy were diagnosed as juvenile idiopathic arthritis with uveitis and the boy was also commenced on tapering dose schedule of topical and oral steroids along with methotrexate. He had experienced multiple recurrences and was treated with appropriate anti-inflammatory therapy during the episodes. Currently, his inflammation is under control, maintaining vision of 6/6p, N6 in both eyes with topical NSAIDs and methotrexate.
The second child, a girl now 5 years, presented at 3 years of age with bilateral granulomatous anterior uveitis with conjunctival cysts. Anterior chamber tap for mycobacterium tuberculosis polymerase chain reaction (PCR) was negative. On musculoskeletal examination she was noticed to have boggy swelling of wrists [Fig. 2], knees, and ankles bilaterally. She had dry scaly rash.
Considering the signs and symptoms in the child, her brother, and mother, an early onset sarcoidosis or BS was considered as a possible diagnosis. She was started on methotrexate and her inflammation resolved with additional course of topical steroids. She is currently on methotrexate along with topical NSAIDs and currently her inflammation is under control.
All three patients were RF, ANA, and HLAB27 negative. Chest X-ray was normal and Mantoux was negative. Angiotensin-converting enzyme (ACE) levels were also within normal limits. Genetic studies to confirm BS was done using a next-generation sequencing panel which identified all the three patients to carry a c. 1000C >T/p. Arg334Trp (R334W) heterozygous variant in the NOD2 gene. This is a previously reported recurrent mutation. All three patients are on regular follow-up with methotrexate, topical NSAIDs, and lubricants.
|
blau syndrome, nod2, juvenile idiopathic arthritis-associated uveitis, ocular sarcoidosis, ocular tuberculosis
| Not supported with pagination yet
| null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.