_id stringlengths 7 16 | description stringlengths 55 95.2k |
|---|---|
pmc-6446494-1 | A 24-year-old man was brought to the emergency department of a hospital, by his office-colleagues, complaining of sudden onset of chest pain and dyspnea at rest, for the last one hour. It was not associated with sweating, palpitations, cough, hemoptysis, syncope, giddiness, leg pain, pedal edema, fever, rash, or any bleeding manifestations.
History of calf pain, trauma, surgery, prolonged immobilization, long-haul air travel, bleeding diathesis or any other co-morbidity was not reported by the patient. The patient also denied having any addiction history. Family history was found to be insignificant.
On admission, the patient’s heart rate was 114/min, and blood pressure was 106/90 mmHg. His respiratory rate was 22/min, and O
2 saturation rate was 82% at room air. BMI was 20.76 kg/m
2. There was no murmur or gallop on cardiovascular examination. Air entry was reduced in the left infra-axillary region. Also, the detailed examination (including Homan’s and Moses sign) was performed and was deemed unremarkable. Electrocardiogram (ECG) showed tachycardia with S
1Q
3T
3 pattern, and chest X-ray was suggestive of obliteration of left costo-phrenic angle. The D-Dimer (17.31 ug/ml) was elevated, 34 times above the normal upper limit (0.5 ug/ml).
CT-Pulmonary Angiogram (
) was suggestive of a massive pulmonary thromboembolism. The pulmonary trunk was dilated to ~30 mm. There was a non-lumen occluding circumferential filling defect in the main pulmonary trunk, with maximum thickness of 4.5 mm. A large partial-lumen occluding filling defect was noted in the left main pulmonary artery, which was extending further into the hilar branch, occluding the lumen completely. Another larger complete lumen occluding filling defect was noted in the right main pulmonary artery. These filling defects were extending into the segmental and sub-segmental branches of the lateral segment of the right middle, lingual and bilateral lower lobe. The RV: LV ratio was 2:1. All four pulmonary veins were normal, and there was no evidence of mediastinal pathology.
On admission, the patient also underwent a bilateral arteriovenous Doppler study, which was suggestive of a partially-lumen- occluding thrombus in the proximal part of left popliteal vein and a completely lumen-occluding thrombus at the left saphenopopliteal junction, approximately 14 cm long. The veins of both legs showed arterialized waveforms.
On 2D echocardiography, right atrium and right ventricle was mildly dilated with grade I, tricuspid regurgitation (TR) and pulmonary arterial systolic pressure by TR jet was 55 mmHg suggestive of moderate pulmonary artery hypertension. No regional wall motion abnormality was observed and left ventricular ejection fraction was 60%.
The coagulation profile was within normal limits. All other blood investigations i.e. hemogram, serum electrolytes, renal and liver function tests were within normal range. The patient had mild hyperuricemia with serum uric acid level being 7.4 mg/dL (Normal: 3.5 – 7.2 mg/dL). Cardiac enzymes (Creatine PhosphoKinase-MB and Troponin T) were mildly elevated. Trop I levels testing was not available at our centre and hence, was not done.
Although it was a clear case of massive VTE, the underlying etiology of such an event could not be extrapolated. Since the patient was a 24-year-old man, without any risk factors or comorbidities, the final diagnosis of unprovoked VTE was made.
The patient was thrombolysed with Injection Alteplase infusion (100mg IV, over two hours) with Injection Enoxaparin 60 mg given subcutaneously every 12 hours. After which, the patient developed hypotension which was treated with inotropic support. Although he had tachycardia post-thrombolysis for the next two days, his blood pressure returned to normal on the third day. 48-hours after giving thrombolytic treatment, the left lower limb venous doppler was done which was suggestive of a partial-lumen occluding the thrombus in popliteal vein extending from saphenopopliteal junction to mid-leg approximately 10 cm long. The CT-pulmonary angiogram was not repeated (post-thrombolysis), due to financial constraints; however, the patient improved drastically. He was shifted to general ward on day 4 post admission. Tab Rivaroxaban 15 mg (12 hourly, orally) was prescribed for the next three weeks. The patient was discharged successfully on the 15
th day of admission. One week after discharge, the patient was advised Tab. Rivaroxaban 20 mg, once daily. The patient was most satisfied with the treatment and the recovery he’d made, but this was not recorded in a form of any official questionnaire (but he had mentioned this verbally).
The patient had followed up in our center for the first three months, following which relocated to Uttar Pradesh, India (his hometown). He experienced no side effects of Rivaroxaban. At three months of post discharge, a lower limb doppler was repeated which showed more than 50% reduction in size of the obstructing thrombus as compared to the previous one done at admission. Post three months of discharge, the patient has not returned back yet and has been lost to follow up. |
pmc-6446496-1 | A 55-year-old male patient from a remote village in Biratnagar presented to our emergency department with complaints of sudden onset dizziness, slurring of speech and headache. He was a known hypertensive but not on regular medication or regular follow-up. Neurological examination revealed Glasgow Coma Scale (GCS) of eye opening 4; Verbal 5; and Motor 5, on admission with his bilateral pupils equal and reactive to light. He had no focal neurological deficits or features of meningeal irritation. An emergent Computerized Tomography scan of the head showed features suggestive of cerebellar bleed with fourth ventricle compression with herniation and ventricular extension. While arranging for cerebral angiography, there was a sudden fall in GCS to E1V1M3, and thereby the patient underwent emergency suboccipital craniectomy with evacuation of cerebellar bleed with placement of external ventricular drain.
The patient’s post-operative medications included ceftriaxone (1gram intravenous every 8
th hourly), prophylactic levetiracetam (500 milligram intravenous every 12
th hourly), Pantoprazole (40 milligram intravenous every 12
th hourly), amlodipine (5 milligram via nasogastric tube 12 hourly), Losartan (50 milligram 12 hourly via Nasogastric tube), and Metoprolol (50 milligram via nasogastric tube 12 hourly). His immediate post-operative GCS improved to E3VtM6.
However, on 3
rd post-operative day, the GCS fell to E1VTM4. Repeat CT head was uneventful. The patient was noted to have gross icterus and his liver function test revealed total bilirubin of 9.4 mg/dl (normal, 0.1mg/dl), direct 2.0 mg/dl (normal, 0-0.35mg/dl); aspartate aminotransaminase/serum glutamic-oxaloacetic transaminase (AST/SGOT) of 911 IU/L; (normal, 10–40 IU/L); alanine aminotransferase/serum glutamic-pyruvic transaminase (ALT/SGPT)of 926 IU/L (normal, 10–40 IU/L); alkaline phosphatase (ALP) of 298; (normal, 40–112 U/L); International Normalized ratio (INR) of 1.09 (normal, <1.1). Complete blood counts were done to rule out sepsis and were normal. Ultrasound of the abdomen and peripheral smear (for identifying features of obstructive jaundice as well as portal hypertension and ruling out hemolysis for raised bilirubin respectively) were normal. So, a possibility of drug induced liver injury causing acute hepatic failure was considered. Since none of the drugs prescribed were commonly implicated to have hepatotoxic effects, we considered the possibility of levetiracetam following a thorough literature search and hence stopped the drug. We also prescribed prophylactic hepatic encephalopathy regimen with strict monitoring of urine output, GCS, watching for seizures and features of upper gastrointestinal bleed. From the second day of stoppage of the drug, repeat laboratory tests showed gradual improvement in liver functions (
and
) paralleling clinical improvement.
Although restarting the patient with the same drug and aided with liver biopsy would be more diagnostic, in our case, the patient’s hepatic function rapidly normalized following stoppage of only levetiracetam from our prescribed drug lists. Therefore, we sufficiently concluded that levetiracetam caused the hepatotoxicity. Though rare, we would like to stress upon the importance of keeping this rare but life-threatening complications of levetiracetam in mind, as it can have profound effect on the timely and corrective management of the patient. There was no episode of recurrence of jaundice seen in the patient within the ensuing 3 weeks. |
pmc-6446957-1 | The second case (Case 2, , ) was a 38-year-old man. He was deployed in Mali from June to the end of September 2016. During the incubation period, he stayed in Abeïbara and reported proximity with goats and camels without direct contact and more than 10 mosquito bites per day, occurring night and day. On 13 September, he presented fever (> 39 °C) associated with headache, myalgia and arthralgia. He was hospitalised for 4 days and received symptomatic treatment. The symptoms lasted 10 days, without complications. He left Mali 15 days after the onset of symptoms, spent 3 days in Crete and stayed in the south of France. Normal clinical examination, including ophthalmological examination, was reported on 2 November 2016. Semen and blood samples were collected 57 days after the onset of symptoms (9 November). Plasma was positive for anti-RVFV IgM and IgG, PCRs were negative in semen and plasma, while viral RNA was still detected in whole blood as was confirmed by partial viral sequencing. The derived 683 nt sequence (GenBank BankIt2148117 RVF41125 MH880841) differed by only 1 nt from the sequence obtained from Case 1. As for Case 1, viral isolation attempts remained unsuccessful. |
pmc-6446957-2 | The third case (Case 5, , ) was a 54 years-old man. He was deployed in Mali from August to December 2016 and returned to France in January 2017. During the incubation period, he stayed in Gao, had no contact with ruminants and did not report mosquito bites. On 5 October, he presented fever (> 39 °C), headache, photophobia, arthralgia and myalgia for 2 days. Two dried blood samples on blotting papers were collected during the symptomatic phase. Serologic tests and RT-PCR were negative for the first sample and insufficient blood quantity led to uninterpretable laboratory results for the second sample. A late sample collected in March 2017 was positive for anti-RVFV IgM and IgG, but PCRs remained negative. The patient also complained of long-lasting headaches with normal cerebral and ophthalmological investigations.
Cases 1 and 2 were kept under personal anti-vector protective measures and were excluded from blood donation until clearance of their viraemia, 100 days after the onset of symptoms. |
pmc-6447139-1 | A 22-year-old, unmarried South Asian female who is a computer operator by profession and who owns 10 unimmunized domestic cats at home since two years presented to our clinic with the complaint of metamorphopsia for four months in the right eye. According to the patient, four months ago, she had developed a headache that lasted one day. The headache had been dull in nature and had subsided on its own. Subsequently, straight grid lines on Microsoft Excel spreadsheets appeared wavy to her when viewed through the right eye. She also had refractive errors in both the right (-1.00 dioptre sphere, DS) and left (-0.50 DS) eyes since three years. On ocular examination, best-corrected visual acuity (BCVA) in the right eye was 6/24. Visual acuity in the left eye was 6/18 with BCVA of 6/6. The anterior segment examination was unremarkable.
Fundus examination of the right eye revealed 2+ vitreous cells and a slightly elevated area of yellow-white active retinitis of two to three disc diameters (DD) over the macula (Figure ). Fundus fluorescein angiography (FFA) in the late phase showed CNVM as a hyperfluorescent patch of increasing intensity of 2DD temporal to the optic disc (Figure ). An axial optical coherence tomography (OCT) scan of the right eye revealed an irregular, thickened surface of the retina with loss of foveal contour and pigment epithelial detachment, findings highly suggestive of choroidal neovascular membrane (Video ). Optical coherence tomography angiography (OCTA) revealed a patch of abnormally dilated, hyperfluorescent vessels at the level of the outer retina.
Clinical manifestations of systemic Toxoplasma infection were absent. There was no history of ocular trauma or any comorbid condition. Her past medical and surgical history was insignificant. There was no history of drug use, allergies, addiction, or blood transfusion. She had normal sleep, appetite, and bowel habits. Findings on complete blood count (CBC), erythrocyte sedimentation rate (ESR), and chest X-ray were within the normal range. The serum angiotensin-converting enzyme (ACE) level was normal. Mantoux test was negative and Hepatitis B virus surface antigen (HBsAg), Hepatitis C virus antibodies (HCV-Ab) and Venereal Disease Research Laboratory-Rapid Plasma Reagin (VDRL-RPR) were non-reactive. An enzyme-linked immunosorbent assay (ELISA) of serum for anti-Toxoplasma antibodies showed high titers of immunoglobulin G, while serum immunoglobulin M (IgM) was absent. The late presentation of the patient may explain the absence of serum IgM.
Therefore, in light of the above findings, a diagnosis of primary acquired Toxoplasma retinochoroiditis with active CNVM was made. Treatment was commenced with a combination of sulfamethoxazole and trimethoprim DS (800 mg/160 mg) twice daily that was continued for 21 days. Two days after antibiotic therapy was begun, oral prednisolone, 25 mg twice daily, was given and gradually tapered over the next three weeks. Intravitreal injection of anti-vascular endothelial growth factor (anti-VEGF) and bevacizumab (1.25mg/0.05ml), was given monthly for three months.
After three months of treatment, the vision in her right eye improved to 6/18, but on the Amsler grid she still appreciated curved lines. Vitreous cells had disappeared. Axial OCT was repeated that showed that the thickness of the retina had decreased temporal to the fovea, but there was still a dome between the disc and fovea (Video ). Therefore, currently bevacizumab is being continued and further response monitored. |
pmc-6447140-1 | A 43-year-old woman presented with a chief concern of painless swelling in the right cheek, which she had first noticed two years ago. On examination, we noted a 1 cm x 1 cm painless, firm mass in the patient’s right cheek area (Figure ).
The rest of the examination revealed no pathologic alterations in the head and neck area. Ultrasonography showed a round tumor under the skin, outside of the buccinator muscle and around the anterior edge of the masseter muscle. Furthermore, this tumor was separated from the main parotid gland (Figure ).
The patient underwent fine-needle aspiration cytology and was diagnosed with a pleomorphic adenoma originating from an accessory parotid gland. After we discussed the risks of the procedure and the possibility of avoiding a scar with the patient, she provided informed consent to undergo surgery via a transoral approach. Transoral excision of the tumor was performed with assistance from an endoscopy for improved visualization (Figure ). Frozen section was not performed in view of preoperative benign cytology report as well as no perioperative clinical suspicion. No intraoperative complications were encountered such as excessive bleeding. Postoperatively, the patient had minimal parotid swelling which was treated conservatively. Post surgery histopathology showed a benign pleomorphic adenoma. We monitored the patient via follow-up for eight months and found no postoperative complications, including pain, facial or auricular nerve weakness, salivary fistula, infection, tumor recurrence, Frey’s syndrome or depression deformity (Figure ). |
pmc-6447627-1 | A 74-year-old man had back pain while working. At 1 week after experiencing back pain, he underwent periodontal debridement. He did not take antibiotics despite their prescription and developed a fever after debridement. At 3 weeks after periodontal debridement, he visited our hospital because back pain had not improved. He was admitted on the same day in the Department of Orthopedics with a diagnosis of compression fracture of the 12th thoracic vertebral body. He had never smoked and had no history of diabetes mellitus or steroid therapy. Physical examination revealed a temperature of 38.5 °C and severe lumbar back pain. His laboratory test results indicated a peripheral white blood cell (WBC) count of 8760/μL, an erythrocyte sedimentation rate (ESR) of 75 mm/h, and a C-reactive protein (CRP) level of 9.9 mg/dL. Magnetic resonance imaging (MRI) revealed a compression fracture of the 12th thoracic vertebral body and a hematoma anterior to the vertebral body (Fig. ). Chest and abdominal computed tomography (CT) showed no findings suggestive of infection and hematoma anterior to the vertebral body. Orthopedic surgeons initially managed the compression fracture using a corset. Furthermore, we performed a percutaneous biopsy of the vertebral body at 15 days after admission because the patient’s fever did not resolve. Cytological findings revealed no malignancy, and biopsy cultures were negative. During follow-up observation without antibiotic therapy, blood culture was performed at 20 days after admission because his inflammation worsened (peripheral WBC count, 9490/μL; CRP level, 22.4 mg/dL). Two blood cultures grew S. gordonii susceptible to cefaclor (minimum inhibitory concentration [MIC], 0.5), cefotaxime (MIC, 0.12), erythromycin (MIC, 0.12), meropenem (MIC, 0.12), clindamycin (MIC, 0.25), and vancomycin (MIC, 1). Cardiac ultrasonography showed no infective endocarditis. Immediately after the detection of S. gordonii in blood cultures, we initiated empirical antibiotic therapy with intravenous (IV) meropenem (1.5 g/day) at 26 days after admission. As the patient verbalized an increase in back pain, CT was performed at 5 days after initial antibiotic therapy, which showed right-sided pleural effusion encapsulated in the right thoracic cavity (Fig. a, b). Thoracic surgeons were consulted about pleural effusion, and we placed a 20-Fr thoracic drain at the dorsal side of the right thoracic cavity from the right fifth intercostal space. We established a diagnosis of empyema because the effluent from the drain was purulent and the pleural effusion culture yielded S. gordonii. The inflammation did not improve (peripheral WBC count, 12,320/μL; CRP level, 20.0 mg/dL), and pleural effusion encapsulated in the thoracic cavity was still observed on chest CT at 4 days after drainage; hence, we performed surgical debridement through video-assisted thoracic surgery (VATS). The lungs had extensively adhered to the chest wall. When we peeled the adhesion, a large amount of purulent pleural effusion was observed in the space anterior to the vertebral body and was drained as much as possible. Adhesion was severe at the dorsal side of the thoracic cavity, particularly at the anterior aspect of the vertebral body. No evidence of apparent vertebral body fracture or damage to the parietal pleura was observed during surgery. After drainage, one drain was placed in the space anterior to the vertebral body and another drain in the lung apex, and the operation was completed. Intraoperative pleural effusion cultures also yielded S. gordonii. A drainage tube was displaced at 4 days after surgery. Because of the patient’s mild but persistent back pain, MRI was performed at 10 days after surgery to evaluate the compression fracture. MRI showed low T1-weighted signals and high T2-weighted signals in the 12th thoracic vertebral body, and the signals spread to the upper and lower intervertebral disk space (Fig. a, b). We diagnosed bacteremia and an infected hematoma resulting from periodontal debridement after a compression fracture; the infected site directly spread and caused empyema and pyogenic spondylitis. The patient postoperatively received IV antibiotic therapy with meropenem (1.5 g/day) and clindamycin (1200 mg/day) for 2 weeks and with ceftriaxone (3.0 g/day) and clindamycin (1200 mg/day) for another 4 weeks. A dentist was consulted for dental caries assessment after surgery and provided continuous treatment for dental caries during hospitalization. Follow-up CT after treatment revealed resolution of pleural effusion, and the patient’s back pain gradually decreased after surgery. After discharge, oral treatment with clindamycin (600 mg/day) and minocycline (200 mg/day) was maintained for 5 weeks. Because of a taste disorder and reduced renal function due to minocycline, the oral treatment was changed from clindamycin and minocycline to cefcapene (300 mg/day). Treatment with cefcapene was continued for 9 weeks and completed. CRP level and ESR gradually decreased and remained within normal limits. Neither empyema nor pyogenic spondylitis had recurred at 12 months after surgery. |
pmc-6447646-1 | A 19 month old male presented to the office for evaluation of recurrent ear infections. His mother reported three to four infections which required antibiotics. He had required extended courses of antibiotics, but not IV antibiotics. There was no history of pneumonia, skin abscesses, suppurative adenitis, osteomyelitis, sepsis (bacterial or fungal), or cellulitis/impetigo. He was otherwise healthy with a history of mild atopic dermatitis.
On exam, his vitals were within normal limits for age. His physical exam was unremarkable except for dry, erythematous patches behind the knees, bilateral antecubital fossa, and axilla.
At the time of initial presentation the patient was living with his biological mother, and two half-brothers. Two older half-brothers were removed from his mother's care prior. He did not attend day care. Mother denied consanguinity with his biological father; in addition, all of her five children had different fathers. There were no pets in the home.
Family history was significant for serious infections in other family members. The patient's maternal grandfather died at an early age (around age 30 years) due to pneumonia. A half-brother in foster care with a history of severe infections was diagnosed with CGD based on DHR. Genetic testing revealed a novel c141+4 A>G mutation of the CYBB gene that is not a common benign variant in individuals with European or African American ancestry. Two of three in-silico splice prediction models (NetGene2, Softberry) predicted damage to the splice donor site for intron 2. A third model (BDGP) predicted no effect on splicing. In the absence of RNA/functional studies, the actual effect of the sequence change is unknown so the mutation was classified as a variant of uncertain significance. A second half-brother in foster care with a different family had been admitted at this academic institution with Burkholderia sepsis and died. While this same child had infection with salmonella at 2 years of age, the diagnosis of CGD was not known at the time of admission. Due to the severity and quick onset of his illness, CGD testing was not obtained. CGD testing could not be completed post-mortem. The diagnosis of CGD was suspected because of his infection with Burkholderia spp. The mother was located and testing confirmed that she was an X-linked carrier of CGD. Based on this result our patient and his two half-brothers were seen for evaluation and testing in our clinic. Subsequently, his mother learned about the CGD diagnosis of her sister's son ().
The DHR was grossly abnormal (, control; , patient) consistent with the diagnosis of CGD. One of the two half-brothers also tested positive for CGD, the other tested negative. The patient was started on trimethoprim-sulfamethoxazole and itraconazole prophylaxis and also referred to Hematology/Oncology for HSCT evaluation.
After careful consideration of the risks and benefits, Hematology/Oncology recommended proceeding with HSCT as the only chance of curing the patient's underlying CGD. As previously discussed, RIC regimens are favored over MAC regimens due to the lower risk of transplant-related toxicities and mortality. The use of donor bone marrow or peripheral blood stem cells (PBSCs) as the stem cell source with a RIC regimen is favored over umbilical cord stem cells due to the high risk of graft failure with cord blood transplantation after RIC. Bone marrow sources are preferred over PBSCs due to the lower incidence of chronic graft-vs.-host disease.
As the patient did not have any known full siblings, the next best stem cell source is bone marrow from a highly HLA-matched unrelated donor. The search for a healthy, full-HLA match is ongoing with plans to proceed with HSCT when an appropriate donor is identified. |
pmc-6447649-1 | A 19-year-old male patient who presented with absent secondary sexual characteristics and delayed growth was admitted to the First Affiliated Hospital of China Medical University. The abnormalities in the patient were first noticed by his mother when she compared the patient with his monozygotic twin brother. During puberty, the gap in height between the patient and his twin brother was as much as 20 cm. The twins were born after a 37-week uneventful pregnancy. The mother experienced natural and breech delivery during her labor of the twin brother and the patient, respectively. Past medical history included one fracture on his right ulna when he was 2 years old. The patient's father was healthy. Both the patient's mother and his twin brother had blue sclera, and they both suffered from bone fractures multiple times before adulthood. The patient's parents stood at 172 cm (father) and 160 cm (mother). His twin brother was 170 cm tall.
The patient showed the following features: height, 158 cm; weight, 53 kg; BMI, 20.70 kg/m2; arm span, 153 cm; upper body height, 67 cm; lower body height, 91 cm; triangular face; light blue sclera (); lack of facial hair; lack of Adam's apple; lack of underarm hair; lack of thyroid swelling; carinatum; enlarged breasts; palpable breast nodules; mild tenderness; lack of galactorrhea; lack of pubic hair; a stretched penis length of 4 cm. Both testes were palpable within the scrotum bilaterally.
Testicular ultrasound showed that the right testis had a size of approximately 1.64 × 0.73 × 1.16 cm (0.73 ml), and the left testis had a size of ~1.48 × 0.65 × 1.01 cm (0.51 ml). His sense of smell was also tested formally (T & T olfactometer test), and no olfactory loss or hyposmia was found. Bone mineral density analysis showed decreased bone density in the lumbar vertebrae (Z = −3.1). Digital radiography of both hands indicated his skeletal age to be 14 years (). Magnetic resonance imaging of the pituitary gland showed reduced morphology of the anterior pituitary, absence of a pituitary stalk and ectopic displacement of the posterior lobe to the infundibulum (). These findings together suggested a diagnosis of PSIS. Ophthalmologic and audiologic examinations did not reveal any abnormalities.
Laboratory examinations demonstrated pituitary hypothyroidism, pituitary-adrenal axis dysfunction, hypogonadotropic hypogonadism, slightly increased prolactin level, and presence of insulin resistance with normal blood glucose level (). The basal GH level of the proband was < 0.5 μg/l and basal IGF-I level was < 25 ng/ml, suggesting a possibility of growth hormone deficiency, but we didn't perform stimulation tests because the patient and his mother refused to take the tests as well as be treated with growth hormone for economic reasons.
Blood samples were collected from the patient and his family members (father, mother, and twin brother). Genomic DNA was extracted using a blood extraction kit (Tian Jing Biochemical Technology Beijing, Ltd.). Roche Nimblegen SeqCap EZ Choice XL Library was used for exon trapping (including 4,132 genes). Illumina nextseq500 was used for high-throughput sequencing. Burrows-Wheeler Aligner software (BWA, 0.7.12-r1039) was applied to align the sequencing data to the human genome. ANNOVAR was used to annotate the genetic variants detected (based on the recent version of the dbSNP database, Clinvar, ExAC, and 1000 Genomes Project). Emphasis was laid on the analysis of known genes involved in OI, PSIS, PHD, and HPE according to pathology (listed separately in ). The results revealed that the identical twins harbor heterozygous mutations in COL1A1 (c.658C>T, p.Arg220Ter) and COL1A2 (c.2569C>A, p.Pro857Thr). The mother harbors the same COL1A1 mutation (p.Arg220Ter) and the father harbors the COL1A2 (p.Pro857Thr) mutation (). No known pathogenic variants related to PSIS, PHD, or HPE were found in this family. No convincing discordant single nucleotide or indel variants were found in coding or regulatory regions in this phenotypically PSIS-discordant twin.
For hypogonadism, 2000 U human chorionic gonadotropin (hCG) was given intramuscularly three times per week, and testosterone and free testosterone levels were re-examined periodically at outpatient visits. The underarm hair and pubic hair of the patient showed significant growth. The testicular volume of the patient increased to 1.47 ml (left) and 1.69 ml (right), and his testosterone levels increased as well but still not reach normal range (). Human menopausal gonadotropin (hMG) was added to the patient's medications (75 U along with hCG). For secondary hypothyroidism, levothyroxine administration was started at 25 μg once daily, thyroid function was monitored, and the dose was increased to 75 μg/day during follow-up. For secondary adrenal insufficiency, oral hydrocortisone was prescribed initially at 20 mg in the morning (8:00 a. m.) and 10 mg in the afternoon (3:00 p.m.), and the hydrocortisone dose was decreased to 5 mg/day during follow-up because the body weight of the patient increased quickly and he showed no manifestation of adrenal insufficiency. A dose of 15 mg hydrocortisone was recommended for the patient according to the guideline after carefully discussion with the patient and his family (). For OI, bisphosphonates were recommended. |
pmc-6447811-1 | A-64 year old female patient presented initially with dysuria for one month. She was suffering from hypertension controlled on different types of antihypertensive drugs with no attacks of headache, palpitation and sweating. She underwent diagnostic cystoscopy which revealed hyperemic velvety area at the bladder. Transurethral Resection of Bladder Tumor (TURBT) was done and pathology was carcinoma in situ. Patient received full course of vesical installation of BCG for 1 year (Six doses weekly as induction and nine doses monthly as maintenance treatment). No obvious complications were noticed during installation period. Follow up cystoscopies, urine cytology and radiology were free during BCG installation. However, patient developed sever irritative LUTS, in time of intravesical installation and post installation with poor improvement on anticholinergics. So, a decision was taken by bladder 100 IU BTX injection aiming to decrease symptoms bother. Bladder was inspected and biopsy was taken 2 weeks before injection with evidence of chronic cystitis. Follow up revealed improvement of suprapubic pain and LUTS. She had not attend for follow up for one year when she developed recurrent attacks of hematuria with developing attacks of headache, palpitation and sweating with no history of syncopal attacks during micturition. Outpatient cystoscopy showed nodular lesion at the trigone near left ureteric orifice with smooth outline (I). MRI for clinical staging revealed presence of diffuse thickening of the bladder base with bilateral external iliac lymphadenopathy and normal both ovaries (II and III). In addition, complementary bone scan was also done and was free. During resection hypertensive episodes reaching 220/120 mmHg were recorded. Pathology was high grade muscle invasive UC with neuroendocrine differentiation. Patient was planned for open radical cystectomy and ileal loop conduit. Notable bouts of hypertension on manipulation of the bladder were recorded intraoperatively. Patient passed smooth postoperative course stopped drugs of hypertension and discharged safely. Microscopic pathology came to be high grade UC muscle invasive of the bladder with neuroendocrine differentiation with positive staining for Pancytokeratin, Chromogranin and Synaptophysin and negative 15 lymph nodes. Also, incidentally primary left ovarian neuroendocrine tumor discovered with intensely staining for Chromogranin, Synaptophysin with negative Pancytokeratin/epithelial markers ().Two weeks following the surgery, the patient was tested with a 24-h urinary metanephrins and was within normal limits. Six month later patient underwent MRI and bone scan for follow up and was free with no evidence of local or distant recurrence with no history of headache or palpitation with still stoppage of antihypertensive drugs. |
pmc-6448025-1 | A 22-year-old male referred to the emergency department in July 2006 for fluctuating paresthesia with motor dysfunction of the left arm and leg associated with cervical pain, which had been evolving for 1 year. Otherwise, his medical clinical history was unremarkable. Magnetic resonance imaging (MRI) of the spine revealed a suspicious lesion within the left spinal cord at the levels of C3–C5. The patient underwent subtotal resection in August 2006. An MRI of the spine 1 month following surgery showed a residual tumor of 27 × 8 mm with strong patchy enhancement following gadolinium administration within the left spinal cord at the level of the bottom of C3 to the top of C5, isointense T1 signal, and heterogeneously hyperintense T2 signal. There was an associated syringomyelia at the rostral and caudal aspects of the enhancing tumor, mostly from C2 to C7. Moreover, T2 hyperintensity was observed in the spinal cord above and below the syringomyelia without associated enhancement ().
The histological examination of the lesion showed a tissue with mixed glial and neuronal components (), the presence of fusiform cells with anisonucleosis, sustained by blood vessels with thickened wall surrounded by lymphocytic cuffs, with eosinophilic granular bodies, and Rosenthal fibers. Binucleated neurons were visualized by calretinine, neurofilament, and synaptophysin staining. Many glial cells showed S100 and CD34 immunoreactivity and diffuse glial fibrillary acidic protein. The Ki-67 labeling index was very low (<1%) and some parts of the tissue were positive for P53 in immunohistochemistry analysis. Molecular analysis revealed immunoreactivity to isocitrate deshydrogenase gene 1 (IDH1 R132H) and a loss of chromosome 9p. Despite the presence of an IDH mutation, central pathological review led to the diagnosis of WHO grade I ganglioglioma ().
Postoperatively, the patient maintained his neurological symptoms and had Brown-Sequard syndrome and micturition dysfunctions.
The patient was followed up with for 9 years until MRI demonstrated tumor progression. Tumor measurements were then 36 × 12 mm, corresponding to a 50% increase in size (). At this time, a second resection was considered too risky and gross tumor resection was not possible. No other treatment was administered because of the lack of proof of chemotherapy and radiotherapy interest. This was consistent with increased arm and leg dysfunction.
Molecular testing for evaluation of target therapy was implemented using tissue collected during surgery after obtaining written informed and signed consent. In July 2015, genomic DNA was extracted from the tumor tissue with a QIAamp® DNA mini Kit (QIAGEN, Hilden, Germany) for standard direct sequencing of exon 15 of BRAF, which was analyzed by using a SNaPshot® kit (Thermo Fisher Scientific, Waltham, MA, USA). The results revealed a V600E BRAF mutation and no mutation in RAS.
Based on these results, in November 2015, the patient was started on vemurafenib 960 mg orally twice daily [100% of the recommended dose in adults for melanoma ()]. This treatment was determined as part of “AcSé,” a French program known as “Secure access to innovative targeted therapies” (). After 8 weeks of treatment, the patient was neurologically stable and brain MRI showed a >50% decrease in tumor size (). A steady partial response was observed for more than 13 months. Toxicities were measured by the Common Terminology Criteria for Adverse Events v4.0 and included grade I myalgia, arthralgia, and asthenia as well as grade I maculopapular rash (folliculitis with microcysts on legs and arms treated with topical retinoids). After 13 months of treatment, the patient decided to stop the treatment because of grade II photosensibility and other dermatological side effects (). To manage his rashes, folliculitis, and microcysts, the patient applied glycerol as a topical emollient, 30% pure urea cream, and Trétinoine (topical retinoid). His palmar-plantar erythrodysesthesia syndrome (hyperkeratosis) was treated with topical fluorouracil/salicylic acid and even curettage for some areas. Photoprotection was achieved by applying sun cream during treatment. No topical steroid was used. His Eastern Cooperative Oncology Group Performance Status decreased to 2 because of grade II asthenia. Two months after stopping treatment, MRI revealed that the disease was stable and had not significantly progressed according to RANO criteria () (). Six months after stopping vemurafenib, grade I dermatological side effects persisted but the patient had recovered to a normal Performance Status and MRI showed no signs of progression.
Twenty-one months after vemurafenib discontinuation in October 2018, MRI and neurological examination showed stable disease () and the patient had no side effects. Although the disease is incurable nature, his neurologic and cognitive functions and quality of life were preserved. |
pmc-6448115-1 | A 46-year-old woman underwent simple mastectomy for treatment of breast cancer at an outside hospital. Her admission platelet count was 335 000/µL, and her postoperative course was uncomplicated. She was discharged on low-molecular-weight heparin (LMWH) for venous thromboembolism (VTE) prophylaxis on postoperative day 2. After 8 days of LMWH therapy, she presented to the emergency department with a progressively worsening headache. She had associated blurry vision but no other neurological deficits. Platelet count at this presentation was 12 000/µL. Computed tomography venography of the head revealed thrombosis extending from the superior sagittal sinus into the right sigmoid sinus. The 4T score was calculated as 7 and HIT was later confirmed with a positive heparin-induced platelet antibody ELISA (enzyme-linked immunosorbent assay) screen (2.69 OD) and serotonin release assay (100% at 0.1 IU/mL and 99% at 0.5 IU/mL).
All heparin products were discontinued and argatroban was initiated. Although a therapeutic partial thromboplastin time (PTT) was maintained for 7 days, there was slight extension of thrombosis and no improvement in platelet count, which suggested a refractory variant of HIT. IVIg was administered for 2 days at 0.7 g/kg/day with minimal improvement of platelet count. Platelet counts continued to remain low at 14 days following LMWH discontinuation. At this time, argatroban was switched to bivalirudin, methylprednisolone 1000 mg was administered once, and IVIg was reinitiated at 0.4 g/kg/day for 7 days. Her platelet counts subsequently demonstrated a steady rise, reaching normal levels within 5 days (). She was transitioned to warfarin. On discharge, her platelet count was 355 000/µL. |
pmc-6448240-1 | A 64-year-old male with diabetic nephropathy received an ABO-incompatible kidney transplantation using a donated kidney from his wife in August 2011. Splenectomy was performed one month before the transplant and plasmapheresis was performed three times for the preconditioning treatment. An interleukin-2-receptor monoclonal antibody (basiliximab) was used as an induction immunosuppressant and maintenance immunosuppression included cyclosporine (target trough level, 150–200 ng/mL for the first month after transplant; 100–150 ng/mL for the second month; 50–100 ng/mL from the third month to one year after transplant; and 30–50 ng/mL thereafter), mycophenolate mofetil (1500 mg daily), and methylprednisolone (starting dose of 20 mg daily with a subsequent weekly reduction by 4 mg and maintenance dosage at 4 mg thereafter). His postoperative course was good with no evidence of acute rejection. His serum creatinine level and estimated glomerular filtration rate level were 1.3 ± 0.6 mg/dL and 48 ± 5 mL/min/1.73 m2, respectively, at 6 years after transplantation.
He visited our outpatient department of surgery in July 2017 (72 months after the transplant), suffering from right colic pain, abdominal distention, and diarrhea. The initial non-contrast-enhanced computed tomography (CT) scan revealed a solitary tumor with a diameter of 11 cm in his lower abdomen. CT colonography was performed to determine the tumor location, which revealed an origin from the small intestine, not the colon or the sigmoid rectum, expanding outside the lumen (Fig. ). The tumor was well circumscribed with a smooth boundary and lobulated contour. There were relatively low attenuation areas in the tumor, which were suspected to correspond to the areas of necrotic degeneration. Moreover, a trapped air bubble was detected in the tumor and mucosal ulcer formation at the tumor site was suspected. Distant metastasis was not observed on CT. Magnetic resonance imaging revealed a moderately high signal intensity on fat-suppressed T2-weighed images and a clear high signal intensity on diffusion-weighted images, which suggested the tumor had malignant potential (Fig. ). The preoperative differential diagnosis was GIST or post-transplant lymphoproliferative disorder of the small intestine. Resection of the tumor was planned several weeks later because operation room schedule was very tight at that time.
One week after diagnosis, the patient visited the emergency room suffering from acute onset of abdominal pain. Emergent CT revealed free air around the tumor and in the upper peritoneal cavity, suggesting perforation of the small intestine (Fig. ). Emergent laparotomy was performed and revealed that small intestinal perforation had occurred due to tumor necrosis on the luminal side. Cytological examination of ascites, which were collected during the operation, showed no malignant cells. Resection of the tumor and intestinal anastomosis was performed simultaneously. The patient’s postoperative course was good without any comorbidity. The pathological findings showed a perforation hole, 2 mm in diameter, at the intestinal wall above the tumor (Fig. a). The tumor had a clear boundary and grew nodularly from just below the muscularis mucosa towards the abdominal cavity (Fig. b). In the center of the tumor there was a cavity due to coagulative necrosis, which resulted in tumor rupture (Fig. c). The tumor consisted of a bundle of spindle cells that were strongly positive for KIT, CD-34, and discovered on gastrointestinal stromal tumor 1 (DOG1); the positive ratio of Ki-67 was 20% (Fig. d-h). The nuclear mitotic count was 20/50 in high power fields. Negative staining of desmin and weak staining for S-100 protein excluded the possibility of a leiomyoma or schwannoma (Fig. i, j). These pathological findings supported a diagnosis of GIST. Risk classification of the tumor was classified as high-risk. Genetic screening revealed a mutation in exon 11 of c-kit and the deletion of two amino acids (Tyr553Trp557del).
Imatinib mesylate at a dose of 400 mg daily was introduced 2 months after the operation as an adjuvant therapy due to the tumor’s high malignant potential, its size (> 5 cm), and the mitotic count (20/50 in high power fields) [, ]. We needed to decrease the dose at 300 mg daily a month after the introduction of imatinib because the patient experienced severe hyponatremia (112.7 mmol/L). Although the cyclosporine trough level was relatively low (30–50 ng/mL) before and after the operation, we withdrew cyclosporine 2 months after the operation without tapering off. Therefore, maintenance immunosuppression comprised mycophenolate mofetil (1500 mg daily) and methylprednisolone (4 mg daily). The patient tolerated reduced imatinib treatment well and his kidney function was well preserved without any evidence of rejection. At follow-up 18 months after the operation, there was no recurrence of the tumor. |
pmc-6448268-1 | A 52-year-old woman visited a hospital with complaints of right axillary swelling. Computed tomography (CT) imaging identified a space-occupying lesion in the S2 region of the right lung. On histological analysis, the tumor showed high-grade cytological atypia with poor intercellular cohesion (Fig. a). Immunohistochemical analysis revealed that the tumor was positive for pan-cytokeratin, vimentin, and thyroid transcription factor 1, but negative for CD45 and CD30, indicating pleomorphic adenocarcinoma of the lung. Programmed cell death ligand 1 was positive in more than 95% of tumor cells (Anti-PD-L1, Clone 22C3; DAKO, Glostrup, Denmark; data not shown). The tumor was evaluated as cT4N2M0 in accordance with TNM classification of Malignant Tumors 8th edition (Union for International Cancer Control, Geneva, Switzerland). The patient underwent four courses of chemotherapy (nab-paclitaxel plus carboplatin). She had fever, polyarthralgia, and muscle soreness. In addition, leukocytosis and thrombocytosis were detected on laboratory testing (data not shown). Based on these clinical features, she was diagnosed as having paraneoplastic syndrome and not an adverse effect of chemotherapy because of paucity of association between symptoms and medication. The patient showed a partial response to chemotherapy based on the Response Evaluation Criteria in Solid Tumors guidelines at which time the tumor was 70 × 55 × 48 mm in size (Fig. b; left panel). Then, she was treated with four courses of 120 mg (3 mg/kg) of nivolumab every 2 weeks. Although the patient still had the same symptoms that was diagnosed as paraneoplastic syndrome before, there was no newly developed prodrome or mild noticeable irAEs until the last administration of nivolumab. In addition, laboratory tests performed in each hospital visit did not show any remarkable abnormality.
However, 14 days after the last nivolumab administration, she was admitted to our hospital with complaints of asthenia. The patient felt sick only one day before the admission. She had a fever of 38.6 °C. There was livedo reticularis on the extremities with systemic purpura. Laboratory results on admission are shown in Table . The patient had no relevant past medical history or family history including autoimmune disease. In addition, autoantibodies, including antinuclear antibodies, proteinase 3, myeloperoxidase-antineutrophil cytoplasmic, and anticardiolipin antibodies, as well as multiple aminoacyl-tRNA synthetases or anti-CL-β2GP1 antibodies, were not detected. Culture and microscopy of the blood smear did not detect bacterial infection. Conversely, significantly increased serum levels of IL-1β, IL-6, IL-10, TNFα, IFNγ, and G-CSF indicated a state of cytokine storm. Thrombocytopenia and increased serum soluble IL-2 receptor, ferritin, and triglyceride levels would imply possible HLH. Impaired liver function with increased lactate dehydrogenase and creatine phosphokinase together with exacerbated muscle soreness suggested rhabdomyolysis. The activity of A disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) was decreased but not less than 10%, which is a criterion for TTP. There was no evidence of infection on blood culture.
Immediately after admission to the intensive care unit, pulse steroid therapy with methylprednisolone 1000 mg/day for 3 days and systemic prednisolone administration (50 mg/day) were instituted. Thrombomodulin and mycophenolate mofetil was administered thereafter. Any of them could not provide a dramatic amelioration of her general condition, although the laboratory test showed improvement after administration of thrombomodulin and mycophenolate. Trend of platelet count, blood concentration of lactate dehydrogenase and creatine phosphokinase, which were useful as indicator of the clinical state, are depicted in Fig. c and d. By 3 days after hospitalization, general hypokinesis of the left ventricular wall resulted in reduced ejection fraction (20%) and aggravation of respiratory distress. Although we did not perform myocardial biopsy, this was probably caused by CRS induced myocarditis, as evidenced by increased levels of the cardiac marker creatine kinase-muscle/brain in the circulation. Continuous hemodiafiltration was also initiated because of renal failure.
By 7 days after hospitalization, the lower extremities were turning black due to circulatory failure (Fig. e). Gangrene then spread with infection involving the entire lower extremities, suggesting PF. Amputation of the left and right lower limbs was performed at three and four months after admission, respectively. We could not find active microangiopathy or inflammation in the resected limbs presumably because of the modification by immune suppressants and complete necrosis.
CT evaluation of the pulmonary lesion at 4 months after the last administration of nivolumab demonstrated significant regression; the tumor had become a scar-like lesion (Fig. b; right panel) and there was no further progression thereafter. The patient was finally discharged from the hospital at 6 months after admission. |
pmc-6448298-1 | The patient was a 35-year-old married Chinese female (G3P0). The timeline of patient care is shown in Fig. .
The patient developed high office blood pressure (approximately 159/96 mmHg) from the 16th week of gestation. Unfortunately, her blood pressure continued to rise (maximal at approximately 180/110 mmHg) as gestation progressed, combined with palpebra and ankle edema. The high blood pressure could not be controlled by 30 mg nifedipine twice a day. She was admitted to the Cardiovascular Department of West China Hospital, Sichuan University at the 20th week of gestation exhibiting hypertension.
The patient had no individual or family medical history of hypertension. She did not exhibit chronic kidney disease, diabetes mellitus, or autoimmune disease. Medical information before gestation showed that the patient was healthy and without any obvious endocrine disease.
At the 20th week of gestation, the patient was admitted to the Cardiovascular Department, West China Hospital, Sichuan University. The patient underwent a comprehensive medical examination. Her office blood pressure was 168/100 mmHg, weight was 68 kg, height was 162 cm, and body mass index was 25.9 kg/m2. The blood pressure in her left and right upper extremities was 168/100 mmHg and 166/98 mmHg, respectively, and in her left and right lower extremities was 180/110 mmHg and 184 /112 mmHg, respectively. The ratio of blood pressure for the upper and lower extremities was normal. The patient had no pulmonary edema and no cerebral or visual symptoms. Her baseline serum glucose and glycosylated hemoglobin A1c (HbA1c) levels were 6.0 mmol/L and 5.8%, respectively. Liver and renal function was normal in this patient. Vascular murmurs were not detected in the neck, chest and abdomen. We also examined hypertensive target organ damage. The carotid femoral pulse wave velocity (cf-PWV) was 8.9 ± 0.8 m/s. The carotid intima media thickness (IMT) was 0.7 mm for both sides and no atheromatous plaques were detected in the carotid arteries. The urinary albumin/creatinine ratio (UACR) was 48.4 mg/g, and the amount of proteinuria was 0.43 g by 24-h urine collection. Echocardiography indicated that the interventricular septum (IVS) thickness was 11 mm, the left ventricular ejection fraction (EF) was 66%, the volume of pericardial effusion was mild and the left ventricular mass index (LVMI) was 84 g/m2 according to LVMI (g/m2) = LVM/body surface area. The plasma level of N terminal pro-brain natriuretic peptide was 321 pg/ml. Ambulatory blood pressure monitoring (ABPM) showed that the patient had persistently elevated blood pressure (24 h average of 169/102 mmHg, daytime average of 171/103 mmHg, night average of 158/95 mmHg).
Methyldopa was prescribed to control the patient’s blood pressure according to the 2013 American College of Obstetricians and Gynecologists guidelines, starting with a small dose (250 mg two times a day) then increasing to a large dose (1 g two times a day). This treatment failed to reduce the patient’s blood pressure to a safe level, and her blood pressure was persistently elevated before the 20th week of gestation. The hypertension was not controlled by 2 g methyldopa per day. In addition, we found the patient had developed hypokalemia (baseline serum potassium was 3.14 moml/L) and preeclampsia in the early second trimester. All of the observed clinical features were not explained by primary or gestational hypertension, so our department measured other endocrine hormones, including catecholamines, hydrocortisone, 24 h UFC, adrenocorticotropic hormone (ATCH) and renin-angiotensin-aldosterone system hormones. Catecholamines, including norepinephrine, epinephrine and dopamine, were normal in both plasma and urine samples. Plasma renin, angiotensin II and aldosterone levels were all in the normal range and the aldosterone/renin ratio (ARR) was 1.94 ng/dl:ng/ml/h. The 24 h UFC was 1684.3 μg/24 h (normal range: 20.26–127.55 μg/24 h). The ATCH level was < 1.00 ng/L in three measurements (normal range: 5–78 ng/L). There was a lack of circadian rhythm for plasma cortisol levels (866.3 nmol/L at 8:00 am, 794.8 nmol/L at 4:00 pm, 806.4 nmol/L at midnight). Ultrasonography demonstrated a mass (2.9 cm × 2.8 cm) with a weak echo and clear boundary in the right side of the adrenal gland. Color doppler ultrasound showed no blood flow signal in the adrenal gland mass (Fig. ). Magnetic resonance imaging (MRI) without contrast showed a mass of 3.2 cm in diameter in the right adrenal gland, and T1 weighted (T1W) and T2 weighted (T2W) images both provided mixed signals. The signal of mass in the T1W image in phase was lower than that in the T1W opposed phase, which indicated the tumor was rich in lipid and conformed to pathological characteristics of an adenoma (Fig. ).
In November 2016, at the 26th week of gestation, laparoscopic adrenalectomy was performed in the right side of the anesthetized patient by a urological surgeon in the West China Hospital. After satisfactory general anesthesia, the pregnant woman was in a left lateral position and a trocar was inserted into the right side of the lumbar region below the costal margin and above the iliac crest. The laparoscope was then inserted into the retroperitoneal region and a 3 cm × 4 cm oval mass with a clear demarcation between the surrounding tissue was discovered in the right side of the adrenal gland. The tumor contained yellow contents and was excised by the urological surgeon. Histopathology indicated an adrenocortical adenoma (pathological mitosis was rare) (Fig. ).
After the surgery, the patient accepted glucocorticoid replacement therapy. Hydrocortisone was administered by intravenous injection at 100 mg daily for 3 days and then 75 mg daily for 10 days. Magnesium sulfate was continuously administered by intravenous infusion to prevent eclampsia and alleviate uterine contraction. Surgical and post-surgical intervention was well tolerated. No adverse and unanticipated events occurred. The patient’s high blood pressure was still present at the beginning of the postoperative period. We prescribed methyldopa (750 mg or 500 mg two times a day) to control the high blood pressure. A month after surgery, the blood pressure decreased gradually and proteinuria was negative by routine urine testing (three measurements). There were no serious adverse events for the pregnant patient and fetus in the remaining second and third trimesters. The patient’s blood pressure was normal at the 32nd week of gestation without antihypertensive medication. Her serum glucose and HbA1c levels were 5.8 mmol/L and 6.1%, respectively. The patient gave birth to a healthy boy by caesarean section at the 40th week of gestation. The baby weighed 3.5 kg, with an apgar score of 8 and 10 at 1 min and 5 min after birth, respectively. |
pmc-6448319-1 | A 43-year-old woman with remittent abdominal pain, dizziness, and fatigue for 20 years was admitted to our hospital in May 2018. She was also suffered from iron deficiency anemia since her adolescence. There were positive results of stool occult blood test but no evidence of bleeding in gastroscopy and colonoscopy during the progression of the disease. On examination, she had lower limbers edema and mild abdominal tenderness around the umbilicus. Vital signs were within normal range.
Her past medical history included appendectomy, oophorocystectomy, and caesarean section. She denied NSAIDs taking. Laboratory examination confirmed iron deficiency anemia (hemoglobin level 86 g/L, normal range: 130–175 g/L) and hypoalbuminemia level (14.7 g/L, normal range: 35–55 g/L), C-reaction protein (30.95 mg/L, normal range: 0.08–7.6 mg/L) was elevated. In addition, the fecal occult blood test was positive. Other test results, such as renal and liver functions, autoimmune antibodies, T-spot were within normal range. Meanwhile, colonoscopy and gastroscopy showed normal results. However, abdominal CT scan revealed segmentally thickened small intestinal walls but no mention of stenosis (Fig. ). Due to the presence of a metal intrauterine device, magnetic resonance (MR) enterography was prohibited. Therefore, CE was used for further inspection. The result found multiple circular ulcerations, and stenoses (Fig. ). Double balloon endoscopy (DBE) was performed for capsule retained which showed multiple ulcerative stenoses (Fig. ) but failed to find out the retained capsule. Biopsy report suggested nonspecific moderate chronic inflammation, and villi became widen and shorten. The culture of bacteria or acid-fast stain for tuberculosis were negative. Based on the results above, CMUSE was diagnosed temporarily. The patient received a tentative treatment of methylprednisolone (40 mg/day) and parenteral nutrition and the retained capsule was waiting for discharge by itself.
Unfortunately, exploratory laparotomy was performed because of acute intestinal obstruction which may be induced by retained capsule after 2 weeks. During the operation, multiple segmental stenoses of the small intestinal were observed and the endoscopy-capsule was found in the ileum. A section of the small intestine, about 60 cm in length, was removed. There were approximately 26 circumferential superficial ulcers with strictures and the minimal distance between two strictures was about 1.5–3.5 cm (Fig. ). Postoperative pathology showed superficial ulcerations which limited to the mucosal and submucosal layers (Fig. ) without granulomas, lymphadenopathy or vasculitis. Finally, CMUSE was diagnosed and she was recovered well after the surgery. Oral steroids were suggested to the patient, but she refused. |
pmc-6448326-1 | A 55-year-old Caucasian woman on peritoneal dialysis for the last three years due to lupus nephritis was seen in the dialysis clinic for a routine follow-up. Her medical problems included hypertension, secondary hyperparathyroidism, and documented osteoporosis on DEXA scan (Dual energy X-ray absorptiometry) with left femoral neck BMD at 0.637 g/cm2; 2.9 standard deviation below peak BMD. Her medications included Amlodipine 5mg, Cinacalcet 60 mg, and Epoetin weekly injections.
She complained of fatigue, muscle cramps, and paresthesias of the hands and feet for the past week. Vital signs were stable. Physical exam was unremarkable with negative Chvostek's and Trousseau's signs. Laboratory work-up showed profound hypocalcemia with a total calcium level of 6.4 mg/dL with corrected calcium level of 6.9mg/dL (serum albumin level of 3.4 g/dL) and markedly increased serum intact PTH level (iPTH) of 2601 pg/mL (). Serum phosphate and serum alkaline phosphatase level was within normal reference range at 3.1 mg/dl and 84 U/L, respectively. Upon history taking, she was found to have received a new medication, denosumab 60mg subcutaneously, prescribed by her rheumatologist 10 days prior to the current presentation.
Before the administration of denosumab, the patient had normal serum values of calcium (9.5 mg/dL), phosphorus (3.8 mg/dL), alkaline phosphatases (96 U/L), and 25 vitamin D with slightly elevated iPTH level at 442 pg/mL. The patient was supplemented with 3,000 mg/dL of oral calcium along with oral Calcitriol 0.5mcg daily and Cinacalcet was held. The peritoneal dialysis solution was also changed from low calcium to regular calcium. All these measures resolved her symptoms with serum calcium normalizing (corrected calcium, 8.7 mg/dL) 5 days later whereas iPTH took almost 4 weeks to come back to baseline level (). Subsequently, she was managed as an out-patient with close monitoring of calcium homeostasis. |
pmc-6448983-1 | In September 2015, a Minnesota woman aged 35 years returned from Somalia and sought medical care for a painful abdominal wound. Staphylococcus aureus and a coryneform isolate (identified as C. diphtheriae via MALDI-TOF and confirmed as toxin-producing) grew from the wound culture (). The patient was not tested for C. diphtheriae carriage. Throat and nasal swabs from four asymptomatic household contacts were obtained both before and at least 24 hours after a prophylactic course of penicillin; all cultures were negative for C. diphtheriae. The patient and household contacts were unimmunized but refused diphtheria toxoid–containing vaccines. |
pmc-6448983-2 | In September 2017, a Minnesota man aged 48 years returned from Ethiopia with an infected leg wound. The wound culture grew group A Streptococcus, Pseudomonas, and a coryneform isolate (identified as C. diphtheriae via MALDI-TOF and confirmed as toxin-producing). The patient was not tested for C. diphtheriae carriage, and a contact investigation was not undertaken because the patient lived alone and reported no close contacts. The patient reported that he had received a diphtheria toxoid–containing vaccine upon emigration to the United States 8 years earlier; therefore, no vaccine was administered. Because the wound had healed by the time the infecting organism was identified, no antibiotic treatment was administered. |
pmc-6448983-3 | In September 2017, a Washington girl aged 12 years was evaluated for possible meningitis (which was unrelated to the cutaneous diphtheria later diagnosed) after travel to the Philippines. While she was receiving medical care, infected insect bites on her lower extremities were noted; wound cultures grew a coryneform isolate (identified as C. diphtheriae via MALDI-TOF and confirmed as toxin-producing). The patient was not tested for C. diphtheriae carriage. Sixteen household and other close contacts of the patient were identified. Nasal and throat swabs from 11 asymptomatic contacts were obtained before administration of a prophylactic course of erythromycin; all cultures were negative. Swabs were not collected from five contacts who had already started antibiotic prophylaxis. The patient and 12 contacts were up-to-date for diphtheria toxoid–containing vaccine and did not require additional doses. Four unvaccinated close contacts received diphtheria toxoid–containing vaccines. |
pmc-6448983-4 | In February 2018, a New Mexico man aged 42 years returned from the Philippines with an exudative lower leg wound (). Specimens were collected from the leg wound, and the culture grew group A Streptococcus and a coryneform isolate (identified as C. diphtheriae via MALDI-TOF and confirmed as toxin-producing). The patient was tested for C. diphtheriae carriage by nasal and throat swabs after antibiotics were administered, and both cultures were negative for C. diphtheriae. Nasal and throat swabs were collected from three asymptomatic household contacts before a prophylactic course of penicillin. All cultures were negative for C. diphtheriae. The patient’s vaccination status was unknown, and no contacts were up to date with their vaccinations; all received diphtheria toxoid–containing vaccines. |
pmc-6449420-1 | A 13-year-old girl diagnosed the previous year with CVID in the setting of pneumonia, low serum immunoglobulin levels, and absent antibody responses to immunizations, presented with worsening dyspnea. Whole exome sequencing did not reveal an underlying genetic explanation for the immune deficiency. A chest CT scan at the time of CVID diagnosis revealed only mediastinal lymphadenopathy. She was placed on monthly IgG replacement therapy and did well until she reported gradual worsening of dyspnea over 3 months. The dyspnea first manifested during competitive sports and progressed to an inability to walk up a single flight of stairs. Pulmonary function testing results () showed a restrictive pattern, and she was unable to complete the maneuvers for diffusing capacity of the lungs for carbon monoxide (DLCO). A follow-up chest CT scan revealed mediastinal and hilar lymphadenopathy, peripheral interlobular septal thickening, peripheral consolidation, and ground glass opacities (). Bronchoalveolar lavage obtained by bronchoscopy did not show any evidence of infection. Specific testing included bacterial, fungal, mycobacterial, and viral cultures along with PCR assays for influenza, respiratory syncytial virus, parainfluenza, human metapneumovirus, adenovirus, cytomegalovirus, Epstein-Barr virus, human herpes virus-8, and Pneumocystis jirovecii. She underwent a right lower lobe wedge resection biopsy via thoracoscopy. The biopsy () showed non-caseating granulomatous inflammation with aggregates of small lymphocytes, scattered multinucleated giant cells, scattered foci of organizing pneumonia, interstitial fibrosis focally in the subpleural space but not prominent or diffuse, and airway luminal compromise from adjacent lymphoid hyperplasia, confirming the diagnosis of GLILD.
She was treated with 4 doses of rituximab 375 mg/m2 given 4–6 months apart, based on clinical symptoms and pulmonary function testing, and azathioprine 50 mg daily for 18 months as IgG replacement therapy was continued. She responded well to the new therapy regimen with complete resolution of exercise intolerance and normalization of pulmonary function testing parameters (). She also had remarkable improvement of the CT scan abnormalities () with the follow up CT scan after completion of therapy demonstrating resolution of all abnormalities. |
pmc-6449466-1 | The patient was a 65-year-old man who presented with memory loss and unsteadiness while walking. He had a history of hypertension for 10 years and diabetes for 3 years. He had smoked for several decades but no history of drinking. Neurological exam clearly revealed the consciousness. His mini-mental state examination (MMSE) score was 24. Strength was normal in all four extremities with exaggerated deep tendon reflexes. He had a spastic gait because of the increased muscular tension in his lower limbs. Babinski's signs on both sides were positive. The cerebrospinal fluid (CSF) pressure was 180 mmH2O, but with normal biochemical analysis. The conventional brain imaging demonstrated ventricular dilation (Evan index >0.3), periventricular and deep white matter changes significantly (). SWI showed no CMBs in the brain (). This patient was diagnosed as typical INPH and received V-P shunt surgery. His symptoms improved considerably after 1 month after the intervention. The Barthel index of activities of daily living (ADL) score improved from 55 to 75 and the functional activities questionnaire (FAQ) score improved from 25 to 18. |
pmc-6449466-2 | The patient was a 62-year-old woman who presented with gait disturbances. She had suffered from high blood pressure for 7 years. Neurological exam clearly revealed consciousness. The MMSE score was 25. She walked slowly and unstably. She was mild muscular rigidity and hyperreflexia. Babinski's signs on both sides were positive. The CSF pressure was over 160 mmH2O, but with normal biochemical analysis results. The conventional brain imaging also demonstrated ventricular dilation (Evan index >0.3) and significant changes in periventricular and deep white matter (). However, SWI showed multiple CMBs predominantly located in deep brain structures including the basal ganglia, the thalami, the corpus callosum, the internal capsule, and external/extreme capsule(). The surgeons thought that the V-P shunt surgery would not be suitable for this patient, who did not suffer from INPH but LA. For this reason, this patient who had hypertension only received oral tablets containing nifedipine, an antihypertensive drug. However, there was no improvement in her symptoms after drug therapy. The Barthel index of ADL and FAQ did not differ before and after treatment, showing scores of 70 and 8, respectively. |
pmc-6449466-3 | The patient was a 79-year-old man who presented with memory loss, gait disorder, and urinary incontinence. He had no hypertension or diabetes and no bad personal habits. Neurological examination clearly revealed the consciousness. The MMSE score was 16. He had normal strength in all four extremities with exaggerated deep tendon reflexes. He had small-stepped gait and the Babinski's signs on both sides were positive. The CSF pressure was 120 mmH2O below, but with normal biochemical analysis. The conventional brain imaging demonstrated ventricular dilation (Evan index >0.3), periventricular and deep white matter changes significantly (). SWI showed multiple CMBs distributed in the area of cerebral lobars including the cerebral cortices and the subcortical white matter (). Finally, this patient was not diagnosed with INPH and LA, but with CAA. No efficient interventions were recommended for CAA, and his symptoms had not improved after 1 month. The Barthel index of ADL and FAQ scores were 20 and 26, respectively. Moreover, the patient suffered from severe dementia, slight gait disturbance, and urinary incontinence, and he could not live independently. |
pmc-6449482-1 | A 48 year old woman presented with atrial fibrillation and no history of arterial hypertension, obesity, endocrine disorders or diastolic cardiac dysfunction. Echocardiography confirmed normal cardiac structure with no signs of hypertrophy or cardiac dilation. Holter monitoring revealed marked prolongation of QT interval (490–560 ms), cardiac conduction defects namely SA and AV block type II and episodes of non-sustained ventricular tachycardia. Familial history reported multiple cases of congenital cardiac defects and sudden cardiac death, as well as Brugada-like ECG pattern in proband’s son. Genetic screening identified mutation R518C in CACNA1C gene (NM_001129830: c.C1552T), which according to American College of Medical Genetics classification and ClinVar database is considered to be pathogenic. Due to repeated syncope, a cardioverter-defibrillator was implanted. Currently, all available relatives refuse cascade genetic screening. |
pmc-6449523-1 | A 20-year-old male patient presented to our out-patient department with right-sided ear discharge persisting for 10 years. The discharge was typically mucopurulent, scant to moderate, continuous, foul-smelling, occasionally blood-tinged and associated with hearing loss, suggestive of active squamosal COM. He gave no history of topical ear drops reaching the throat. On otoendoscopy there was erosion of the scutum, and the pars tensa was adherent over the promontory with no evidence of any ossicles. The tympanic segment of the fallopian canal was visible with the drum draped over it and a small perforation was noted in the antero-superior quadrant near the opening of the ET (). There were no clinical findings related to complications such as facial palsy, dizziness, tinnitus or cranial neuropathy. The opposite ear was normal.
The Rinne’s test was negative for all three frequencies (256,512,1,024 Hz) on the right side and negative for 256 Hz only on the left side. The Weber’s test with 512 Hz was lateralized to the left side. A pure tone audiogram revealed profound mixed hearing loss on the right side (100 dB HL) and mild conductive hearing loss on the left side (31 dB HL). High-resolution computed tomography (HRCT) temporal bone revealed thinning of the tegmen with the cholesteatoma sac occupying the mastoid cavity and no visible ossicles. It also reported an incidental FB (metallic or bony) with an intensity of 2,400 HU located at 7.2 mm from the ET opening in the middle ear and measuring 1.3 × 2.2 mm in size ().
A screening MRI showed no artifact and favored the diagnosis of a sclerotic bony FB. After informed consent, diagnostic nasal endoscopy and routine investigations indicated that the patient was fit for surgery. He underwent surgery under local anesthesia with 2% lignocaine and adrenaline, supplemented by intravenous sedatives.
A right-sided Wilde’s incision was taken, and temporalis fascia and tragal cartilage grafts were harvested. The FB in the ET was not visualized under a microscope. The tympanomeatal flap was elevated and a canal-wall-down mastoidectomy was performed. A small piece of Merocel® soaked in 4% lignocaine and adrenaline was kept near the ET opening to prevent the bone dust from entering the ET.
After lowering the canal wall, the FB was visible with a 4-mm zero-degree endoscope but none of the routine otology instruments could manipulate the FB. A 2.7-mm pediatric 30-degree endoscope gave better working space, but compromised the visual field. However, using endoscopes we could visualize that the FB was an eroded ossicle (incus) ().
Multiple fine instruments were tried, which included a ball point, curved pick, and 2-mm flexible grasping forceps used in general surgery for gall bladder surgeries. The fine curved pick could reach the foreign body, but there was bleeding during manipulation. An infant feeding tube of the smallest size was used as suction.
Unfortunately, the FB was displaced further medially into the ET. Endonasal clearance of secretions and blood from the ET was performed with a curved suction cannula. An attempt to suck out the FB from the nasopharyngeal end of the ET was made, but unfortunately the FB was not retrieved intra-operatively, and hence it was not possible to assess its histopathology.
We had anticipated this difficulty and designed a special graft which would keep the middle ear independent of the ET ventilation.
We used a Goode’s T-tube which was inserted through a small hole made in the tragal cartilage with a cutting burr. A small piece of temporalis fascia was then placed over the lateral side of the designed graft with the T-tube coming out through it ().
The middle ear was filled with steroid-soaked gel foam, and the fashioned graft was adjusted over it in an underlay manner. The outer end of the small T-tube was trimmed to an appropriate size. The mastoid cavity and the ear canal was filled with Betadine®-soaked gel foam.
A wide meatoplasty was performed and the wound was closed in layers. HRCT was repeated after 1 week and showed no evidence of FB in the ET. The patient remains asymptomatic, on a 6-month follow-up (). |
pmc-6449524-1 | We presented the case of a 55-year-old man with left peripheral facial nerve palsy. The symptoms appeared one week earlier, along with viral upper respiratory infection.
Otalgia started after two days accompanied by hearing loss and tinnitus on the left side; on the third day, vesiculoerosive lesions manifested itself in the left auricle (), followed by the incidence of left side FNP ().
The patient also suffered from true vertigo. On the same day of FNP incidence, the case developed hoarseness and fluid aspiration that became worse in the following days. The case had a surgery on the other ear (right side) 20 years earlier and 20 pack-year history of smoking. There were no diplopia, ptosis, headache, and the weakness of limbs or loss of consciousness. In addition, the patient had no history of diabetes or tuberculosis.
The physical examination revealed a left peripheral FNP grade VI based on House-Brackmann (HB) grading. In the right ear, he had previous surgical scar, along with central perforation with otorrhea. In the left ear, herpetic vesicles, as well as papules and pustules, associated with erythema and edema were observed in the ear canal and the conchal bowl (). The laryngoscopic examination confirmed left vocal cord paralysis that was fixed in the paramedian position. The audiological evaluation verified left side profound hearing loss ().
The patient was managed with RHS diagnosis associated with the paralysis of cranial nerves VIII and X, and the treatment started with acyclovir and prednisone 1mg⁄kg.
The FNP recovered after 2 weeks and the synkinesis totally improved following 4 weeks. Although fluid aspiration remarkably improved, left recurrent laryngeal nerve paralysis persisted on indirect laryngoscopy, with the compensation from opposite vocal cord. The case’s vertigo improved after 4 days of treatment; however, occasional non-pulsatile tinnitus still lingered on. The vesicles changed into scabs within 5 days and the inflammation and erythema disappeared after 2 to 3 weeks. The left side sensorineural hearing loss and also recurrent laryngeal nerve paralysis sustained for a year of follow-up. |
pmc-6449525-1 | A 72-year-old male attended the otorhinolaryngology outpatient department with complaints of right ear discharge over 2 years. He had no other constitutional symptoms. The patient had undergone left side myringoplasty 5 years previously for chronic suppurative otitis media. His chronic ear discharge was not resolved after ear surgery. The ear discharge was sent for bacterial culture which showed no growth. The patient was taking topical ciprofloxacin ear drops, without any resolution of the symptoms.
On examination of the ear, it revealed mild myringitis, thickening of the posterior ear canal, and active purulent discharge. There was some pinkish-to-pale colored granulation tissue at the posterosuperior quadrant of the tympanic membrane ().
The tympanic membrane was intact. The patient was concerned about malignancy and we took tissue from the granulations at the ear canal and sent it for histopathological examination. Histopathological examination showed squamous epithelium with granulo- matous inflammation. The acid-fast bacilli stain was positive for acid-fast bacilli ().
There were no fungal hyphae on Grocott’s methenamine silver stain and no evidence of any malignancy. Real-time polymerase chain reaction (PCR) of the formalin-fixed paraffin-embedded tissue was positive for Myco-bacterium tuberculosis, which was surprising.
The patient was then properly evaluated by chest physicians, and denied any fever, cough, weight loss, or hemoptysis. He had no past history of exposure to tuberculosis. The patient’s routine laboratory findings including complete blood count, liver function tests, erythrocyte sedimentation rate (ESR), and serum creatinine were normal. However, QuantiFERON-TB Gold was positive. A computed tomography (CT) scan of the both sides of the temporal bone was performed, which showed narrowing of the left external auditory canal ().
This lesion was treated for extrapulmonary tuberculosis, including rifampicin (600 mg daily), isoniazid (300 mg daily), pyrazinamide (2,000 mg) daily, and ethambutol (1600 mg) daily for 2 months. The isoniazid and rifampicin were continued for the next 8 months. The patient’s otorrhea was resolved within 1 month after starting the antitubercular therapy (ATT). Examination of the external auditory canal and tympanic membrane were normal after 6 months of treatment. |
pmc-6449526-1 | A 3-month-old male was seen in our pediatric oncology department because of a growing parotid gland mass. The mass was congenital and was followed by the pediatric oncology team with a prediagnosis of hemangioma. The patient’s magnetic resonance imaging (MRI) scan showed an infantile hemangioma in the proliferative phase filling the parapharyngeal space ().
The child then received propranolol therapy, but despite this treatment the mass continued to grow, and the child was referred to our department at the age of 10 months. The otorhinolaryngological examination revealed an 8×7-cm mass filling the left parotid region, with normal facial nerve motor functions (). Histopathological diagnosis of the mass was provided by an incisional biopsy as sialolipoma.
We planned to perform total excision of the mass with a transparotid approach. The facial nerve was monitored intra-operatively, and surgery was performed under magnification using surgical loops. A standard modified Blair incision was used, flaps were raised (), then the facial nerve was identified in a standard fashion using a tragal pointer and posterior belly of the digastric muscle as landmarks.
The main trunk of the facial nerve was found to be unusually elongated before pes anserinus. A soft lobular mass was encountered. A tumor involving the superficial parotid lobe was first dissected, then the deep lobe of the parotid gland and portion of the tumor filling the parapharyngeal space were gently dissected under the facial nerve (). A Jackson-Pratt drain was inserted into the wound after the excision of the tumor.
On macroscopic examination, the mass was found to be a lipomatous specimen, 9×8×4 cm in size. The cut surface was consistent with the appearance of a lipoma. Histopathologic examination confirmed the diagnosis of a sialolipoma. The lesion was composed of mature adipose tissue mixed with acinar, ductal structures of a normal salivary gland ().
The postoperative period was uneventful. The patient’s facial nerve motor functions were well preserved, and he was discharged on the third postoperative day. The patient is still followed, and has no signs of recurrence in his 24th postoperative month. |
pmc-6449528-1 | A 59-year-old female patient, who was monitored at a neurology clinic, was referred to our clinic due to sustained hemifacial pain on the right side. The patient had diagnosed diabetes mellitus type 2, which was under control. There were no pathological findings in the patient's anterior rhinoscopic or endoscopic nasal examination (), although the nasal septum was observed to be deviated to the left. The patient's hematological and biochemical parameters were normal. As an advanced examination, paranasal computed tomography (PNCT) imaging was performed. A radiological examination revealed concha bullosa variation of the bilateral middle turbinates, and soft tissue density in the right concha bullosa (). Concha bullosa was incised by applying topical anesthesia to the patient's right nasal cavity, and a punch biopsy was performed. As the pathology report concluded fungal hyphae and necrobiotic material, the patient was prepared for surgery. Upon receiving written consent from the patient, endoscopic sinus surgery under general anesthesia was planned. Lateral and inferior lamellae of the concha bullosa were excised and the infected material inside was submitted to pathologic examination (). Upon controlling the bleeding, the intervention was finalized. The patient was prescribed nasal wash and anti-inflammatory treatment post-operatively.
The pathological examination report stated fungal organisms and their hyphae in the necrobiotic material submitted to pathology (). "Aspergillus oryzae" was cultured by sequential analysis of the ribosomal DNA genes in the aspirated material submitted for advanced microbiological examination. During the post-operative 6-month follow-up, the patient's headache complaints were diminished and the nasal passage was open. |
pmc-6449648-1 | We report a case of a 6-year-old boy admitted to the emergency unit owing to severe hypothermia and unconsciousness. Medical history was not contributive.
He was transferred by a mobile emergency medical service to the hospital emergency room. Vital parameters and clinical examination at admission showed a Glasgow Coma Scale score of 5/15 with fixed dilated pupils, a core rectal temperature of 27.2°C, SpO2 of 98% with supplemental oxygen, irregular respiration, sinus bradycardia (60 bpm), a normal blood pressure (98/72 mmHg, mean blood pressure 79 mmHg), a prolonged capillary refilling time of 4 s, muscle rigidity, and obvious hypotrophy.
During admission, rapid-sequence intubation and non-invasive rewarming were performed. Fluid replacement boluses of normal saline were administered. Blood gas and first laboratory assessments within 8 h of admission showed a compensated metabolic acidosis, hyperlactatemia [Lactatemia at 5.5 mmol/L, normal (N): <2 mmol/L], hyperglycemia at 340 mg/dL (N: 70–100 mg/dL), mild thrombocytopenia (124,000/μL, N: 150,00–440,000/μL), elevated biomarkers of myocardial and muscular damage such as serum CK-MB (up to 2,262 UI/L, N: <190 UI/L), myoglobin (up to 1,978 ng/mL, N: <72 ng/mL), and troponin (up to 684 ng/L, N: <14.0 ng/L), mild alteration of coagulation screening [(PT 51% (N: >70%), INR 1.46 (N: 0.95–1.31)], hypertransaminasemia (AST up to 2,700 UI/L, N: < 40 UI/L, ALT up to 2,000 UI/L, N: <41 UI/L), normal renal and pancreatic functions, and no major ionic problems. Electrocardiography showed a first-degree atrioventricular block, with a prolonged QTc interval at 470 ms.
He was admitted to the pediatric intensive care unit (at H0 = hour 0) and his core temperature was restored (up to 36°C) over 8 h. Persistent hyperlactatemia justified initiation of dobutamine infusion (5 μg/kg/min). Six hours after the patient was warmed up (H14), a cardiogenic shock with cardiac arrest (non-perfusing rhythm—pulseless electrical activity) suddenly occurred and a return of spontaneous circulation was obtained within 30 min of cardio-pulmonary resuscitation performed according to the European guidelines (). No arrhythmias occurred. Echocardiography showed a structurally normal heart with a biventricular global dysfunction [left ventricular ejection fraction (LVEF) of 30%, with mitral insufficiency of grade 2/4 and protodiastolic and end-diastolic pressures, measured on pulmonary insufficiency, at 22 and 15 mmHg, respectively]. At that moment, the serum NT-pro-BNP level was 1,195 pmol/L (N: <15 pmol/L). Hemodynamic support with adrenaline [maximum (Max) dose of 0.3 μg/kg/min] and milrinone (Max dose 0.375 μg/kg/min) infusions was initiated. Dobutamine was stopped. Despite the use of amines, degradation of mainly the left heart function occurred within a few hours (H20), requiring veno-arterial extracorporeal membrane oxygenation (VA-ECMO). At H48, the cardiac function was still worsening (LVEF <10%) (). Other organ injuries, sepsis, intoxication, adrenal insufficiency, and thyroid dysfunction were excluded.
A nutritional screening performed at admission before VA-ECMO support in this context of maltreatment showed a pre-albumin at 0.07 g/L (N: 0.24–0.40 g/L), an albumin of 31 g/L (N: 38–54 g/L), and multivitamin deficiencies (Vitamin A, 0.34 μmol/L, N: 0.87–2.62 μmol/L; Vitamin D, 15.2 nmol/L, N: 75.0–150.0 nmol/L; Vitamin E, <1.16 μmol/L, N: 11.60–41.79 μmol/L), indicating a state of malnutrition. Serum zinc and copper levels were at the lowest limits of the normal range. Serum selenium level was low at 44 μg/L (N: 50–150 μg/L). Serum free and total carnitine levels were within the normal range. An abnormal iron balance was highlighted too. Moreover, measurement of anthropometric parameters at admission, showing a height for age z-score at −2.1, confirmed the clinical state of chronic malnutrition.
Total parenteral nutrition with vitamin supplementation (thiamine nitrate 2.5 mg/day) was therefore started at H48. Before starting parenteral nutrition, the patient was fasted with only isotonic intravenous fluids and no enteral feeding. The biventricular function dramatically improved and allowed us to wean off invasive ventilation, amines and extracorporeal assistance within day 6 (). Echocardiography performed at day 4 showed an LVEF of 50%. Total enteral nutrition was achieved 1 week after stopping VA-ECMO ().
A few days after starting full enteral nutrition, despite avoiding rapid increases in the daily caloric intake, a refeeding syndrome appeared (hypokalemia at 2.7 mmol/L, N: 3.5–4.8 mmol/L; hypomagnesemia at 0.49 mmol/L, N: 0.66–1.07 mmol/L; hypophosphatemia at 0.28 mmol/L, N: 1.02–1.86 mmol/L), which required electrolyte supplementation, almost concomitant with acute pulmonary edema, stiff hepatomegaly, and other signs of pre-charge overload. Thoracic computed tomography showed dilatation of the left atrium with high serum NT-pro-BNP (1,395 pmol/L). Echocardiography at week 3 showed a diastolic dysfunction (proto-diastolic pressure estimated at 25 mmHg, moderate dilatation of the inferior vena cava) despite a normal systolic function with LVEF of 64%. Non-invasive ventilation, furosemide, and enalapril were started. Given that “wet beriberi” was suspected despite the absence of biological confirmation (vitamin B1 dosage was not available), supplementation of high-dose thiamine was initiated (500 mg/day per os). Clinical improvement was rapidly obtained within a few days. Despite a complete recovery of the systolic heart function, a mild diastolic dysfunction persisted. One month later both systolic and diastolic functions normalized ().
Moreover, the patient underwent a depressive-like state suggestive of post-traumatic stress. Wernicke-like syndrome was excluded. No nystagmus, ophtalmoplegia, or ataxia were noted, and brain MRI findings were normal. His behavior progressively and completely returned to a normal state. The patient's condition continued to improve and 1 month later, the patient's clinical and biochemical parameters were also completely restored. |
pmc-6449787-1 | In June 2017 a 36-year-old female patient was admitted for treatment of infiltration of HA-based dermal fillers. The patient had received treatments with dermal fillers in the past without adverse reactions. Immediately after the dermal filler procedure, the treated areas appeared in good condition without signs of skin suffering. Three days later, at a follow-up examination, the left treated area appeared cyanotic and swollen despite the patient not complaining of discomfort. The skin appeared erythematous with distribution along the left nasolabial folds up to the lateral nasal wall, and the capillary refill time appeared slow or absent (
). Consequently, treatment with the protocol, as stated above, was performed immediately. We used 40UI of hyaluronidase per cm
2, two times a day for 3 days. The patient received acetylsalicylic acid 100 mg / 24h for 10 days, prednisone 25mg / 24h for 4 days, levofloxacin 500mg / 24h for 4 days, topical cream with nitric oxide 2 times a day and compresses with gauze and warm 3 times a day.
Necrotic complications of the face were avoided in this patient (
). |
pmc-6449787-2 | In August 2017 a 45-year-old woman was treated with HA to fill the region of nasolabial folds. In the past the patient had received similar treatments without adverse reactions. At the clinical check after three days, the patient shows signs of skin suffering. Compared to Case 1 the erythematous area was smaller with distribution retained to the medial region of the cheek (
). Treatment with the protocol, as stated above, was performed immediately and 40UI/cm
2 of hyaluronidase was injected every 12 h per 2 days, after only 1 dose for the third day. Systemic corticosteroids, antiplatelet therapy, antibiotic therapy and local topics were used according to protocol, as expressed in Case 1.
Necrotic complications of the face were avoided in this patient (
). |
pmc-6449921-1 | A 68-year-old woman presented with an externally huge tumor in the lower abdomen. The tumor was restricted and reached 5 cm above the navel. Imaging findings, including computed tomography and magnetic resonance imaging, revealed a multilocular cyst tumor with a diameter of 27 cm. The tumor was composed of a solid part with hemorrhaging (Fig. ). Imaging also showed that the patient had massive ascites. The preoperative serum level of cancer antigen 125 (CA125) was elevated to 237.3 U/ml (normal range: < 35.0), whereas the carcinoembryonic antigen (CEA), cancer antigen 19–9 (CA19–9) and squamous cell carcinoma (SCC) values were within the respective normal ranges.
Total abdominal hysterectomy, bilateral adnexectomy, omentectomy, lymphadenectomy (pelvic and para-aorta), peritonectomy of vesicouterine excavation, resection of disseminated lesion of Douglas’ pouch and a biopsy of the colonic mesentery were performed without residual disease. At surgery, massive hemorrhagic ascites of 4000 ml was present in the perinatal cavity. The ruptured tumor arising from the right ovary was found firmly adhered to the sigmoid colon, transverse colon, mesentery of small intestine and peritoneum on vesicouterine excavation (Fig. a, b).
The postoperative course was uneventful. Histologically, most of the tumor showed undifferentiated pleomorphic sarcoma, in which tumor cells of various forms with strong nuclear atypia grow complicatedly (Fig. a). The immunohistochemical analysis showed that the sarcomatous component was positive for vimentin, alpha SMA and CD10 and negative for AE1/AE3, CK7, CK20, desmin, CD31, CD34, AFP, hCG, HMB-45, S-100 and factor VIII; the Ki-67 (MIB-1) index was 60%. The carcinomatous component comprised squamous cell carcinoma (Fig. b). Its immunohistochemical analysis showed positivity for AE1/AE3 and EMA and negativity for PAS, ALB, CK7, CK20, vimentin, alpha SMA, desmin, CD10, CD34, AFP, HCG, CD56 and synaptophysin chromogranin; the Ki-67 (MIB-1) index was 20%. The final diagnosis was OCS classified as stage IIIA1 (pT2bN1M0) according to the International Federation of Gynecology and Obstetrics (FIGO) 2014 classifications with squamous cell carcinoma as the carcinomatous component. There was no evidence of teratoma. Metastasis of sarcoma component to the para-aortic lymph node and disseminated lesion of Douglas’ pouch were detected. Postoperatively, the patient was treated with six cycles of combination chemotherapy with paclitaxel and carboplatin as adjuvant therapy. The patient was free of disease at the 45-month follow-up consultation. |
pmc-6449997-1 | We present the case of a 3 year-old patient, who is the first case to be reported associating mutations in Kras and NF1 genes in the same patient, being the NF1 mutation an undescribed variant until the moment.
She consulted at the emergency department on her ninth day of life due to refusal to eat and sleepiness. No fever or any other infectious signs were present.
She had personal history of shortened femur, thickened nucal fold and suspect for agenesis of the corpus callosum in prenatal ultrasound. Amniocentesis showed a normal fetal caryotype (46, XX). Fetal echocardiography didn’t detect any anomaly and intrauterus fetal magnetic resonance (MRI) was also informed as normal. No intercurrent diseases occurred during pregnancy. She was born by eutocic vaginal delivery with a gestational age of 38 weeks and apgar score 9/10. Her anthropometry at birth was 3590 g of weight (percentile - p > 95), 48 cm of leght (p50–75) and 37 cm of cephalic perimeter (p > 95). During the newborn period she was mixed fed (she received both breast and formula milk). The endocrine-metabolic screening had normal results, as well as the otoacoustic emissions.
Physical exploration revealed a facial phenotype with hypertelorism, antimongoloid obliquity of the palpebral fissure, right palpebral ptosis, prominent forehead, and low earlobes. She also had long filtrum, thickened nucal fold, separated nipples, widespread thickened skinfolds and many café au lait spots. She associated a systolic murmur and rhizomelic limbs with stable hips, arched legs and axial hypotonia with normal primitive reflexes.
Regarding her family history, her mother showed an attenuated Noonan phenotype with negative genetic testing and history of feeding difficulties during the newborn period.
During the admission imaging test were performed, giving the transfontanellar and abdominal ultrasound as well as the evaluation of gastrointestinal transit normal results. A normal electroencephalogram was also obtained. The echocardiography showed a moderate pulmonary valve stenosis with a morphologically dysplastic valve. At the age of 14 days of life bone radiological studies were made, including X-ray of the skull, chest, abdomen, spine, limbs and carpi, which were informed as findings suggesting skeletal dysplasia (possible achondroplasia) even though not all the radiological findings fit that entity. Macrocephaly with a prominent frontal bone was observed, as well as short metacarpals, rhizomelic shortness of lower limbs with round enlarged metaphysis, arched legs and delayed appearance of the ossification nucleus.
During the admission she presented progressive feeding difficulties with frequent vomiting and weight loss that prevented from recovering the birth weight, so hypercaloric formula was used with subsequent weight gain. When she was 21 days-old brainstem auditory evoked response (BAER) were practised and showed a mild-to-moderate increased latency of response in wave V with all stimulus intensities, more significant on the left side, suggesting bilateral transmission hearing loss.
In view of the clinical suspicion of Noonan Syndrome, point mutations in the PTPN11, SOS1, RAF1, BRAF1, NF1 and KRAS genes were studied by Sanger sequencing. ADN of peripheral blood was extracted in an automated Maxwell® 16 System, using the Maxwell® 16 LEV Blood DNA kit (Promega). The DNA was quantified by spectrophotometry, in a Biophotometer, through the measurement of the absorbance at a length of 260 nm wavelength. All the coding exons and adjacent intron regions of the 5 genes and the sequencing of the two strands of the amplified fragments and visualization of the sequences by capillary electrophoresis in an Applied Biosystems® 3500DX Genetic Analyzer were amplified by PCR. The sequences obtained consensus for the 5 genes (GenBank Accession Number) were compared.
The NF1 gene analysis found a pathogenic variant in exon 53 (p.E2586X). This variation is not described in any international database or scientific publications yet, but the predictive algorithms using in silico analysis consider it a pathogenic variant.
Also a mutation in the KRAS gene was detected (p.Val14lle), which is known to be associated with mild Noonan phenotype. Both pathogenic variations were de novo in our patient as the genetic testing was negative in both parents.
Throughout the evolutive control an important axial hypotonia persist, as well as horizontal nystagmus that emphasizes if cycloplegic administered, right palpebral ptosis, and optic nerve hypoplasia. The patient is actually awaiting a percutaneous pulmonary valvuloplasty, she needs a nasogastric tube for feeding and follows rehabilitation, physiotherapy and logopaedic plans. |
pmc-6450041-1 | A 16-year-old female presented with a complaint of pain, periorbital swelling, and inability to open her left eye. She had suffered injury 6 hours ago. When getting on a bus in traffic, she fell down the bus steps to the floor. She was managed conservatively in a peripheral health center for the head injury and was referred to the ophthalmology unit at our hospital. Examination then showed that she had periorbital edema and complete ptosis on her left eye (Figure 1 ). Visual acuity was 20/20 in both eyes. There was no proptosis. Color vision was intact. Ocular movements were full in the right eye. There was a complete absence of movement of the eyeball in all the gazes in the left eye (Figure 2 ). Further ophthalmologic evaluation demonstrated no evidence of optic disc edema, neuropathy, or retinal detachment. She had paresthesia of the left frontal region. She also reported taking no medications and having no known drug allergies or sensitivities.
Clinical examination was otherwise normal. Hematological investigations revealed Hb 12 g/dl and WBC 7,000 cells/mm3, chest X-ray was normal, and blood pressure was 110/70 mmHg. The laboratory measures of C-reactive protein (CRP), creatinine and blood urea nitrogen (BUN), blood glucose, lipid studies, B12, folate, thyroid function and other measures were not significant. The erythrocyte sedimentation rate was 4 mm/h.
The CT scan of the orbits and the maxillofacial area showed no haematoma or fracture of the superior orbital fissure or the surrounding orbital bones. The width of the superior orbital fissure was 3.01 mm on the right side and 1.86 mm on the left side (Figure 3 ). The diagnosis of traumatic superior orbital fissure syndrome was made and the patient was managed with intravenous 500 mg prednisolone for 3 days. There was a partial improvement in ptosis and ophthalmoplegia after 2 weeks (Figure 4 ). The patient was followed at regular intervals and her condition improved over the period. At the end of 10 weeks, there was a complete recovery from ptosis and ophthalmoplegia (Figure 5 ). |
pmc-6450042-1 | A 30-year-old male patient came with chief complaint of diplopia on right gaze and decreased vision in the left eye of 20 days duration following a road traffic accident. He had a fall from a two-wheeler which he was riding without a helmet. There was a history of loss of consciousness and epistaxis and he was admitted in a general hospital for four days. Computerized tomography (CT) scan of the brain showed minimal extradural bleed over the right frontal lobe with minimal subarachnoid bleed along the basal cisterns. CT scan of the orbits showed a minimally displaced fracture of the right supraorbital bone extending into the frontal bone along with a linear undisplaced fracture of the anterior and lateral walls of the right maxillary sinus. The left orbit showed an undisplaced fracture of the lateral wall along with a linear undisplaced fracture of the anterior wall of the left maxillary sinus with a hypodense collection in both maxillary sinuses. On ocular examination, his best corrected visual acuity was 20/20 in the right eye and 20/60 in the left eye. Anterior segment examination showed enophthalmos with restricted abduction in the right eye (Figure 1 ) and a normal left eye. Fundus examination was normal in the right eye while the left eye showed multiple cotton wool spots surrounding the disc with superficial retinal hemorrhages (Figure 2 ). Forced duction test was negative in the right eye. Color vision and contrast sensitivity were normal in the right eye but reduced in the left eye. Hess and diplopia charts showed features of right lateral rectus palsy. Optical coherence tomography (OCT) showed a thickening with hyperreflectivity in the inner retinal layers. 30-2 visual fields showed central scotoma. Fundus fluorescein angiography showed a blocked fluorescence corresponding to the hemorrhages and capillary non-perfusion areas with late leakage corresponding to the cotton wool spots (Figure 3 ). The patient was managed conservatively with occlusion for one month. On follow-up examination, there was a complete resolution of the sixth nerve palsy in the right eye after two months with resolving hemorrhages and cotton wool spots in the left eye. At 20-month follow-up, visual acuity of both eyes was 20/20 with full ocular movements and minimal retinal pigment epithelium changes over the macula in the left eye. |
pmc-6450065-1 | The patient was a 4-month-old boy born at gestational age of 36 weeks by elective cesarean section because of placenta previa. During the third trimester, he was found to have right hydronephrosis, with an anteroposterior diameter (APD) of 27 mm and SFU 4. His left kidney and urinary bladder were normal, as were his initial physical examination and laboratory workup at birth. A voiding cystourethrogram at 1 day of age showed a normal bladder and urethra and no evidence of vesicoureteric reflux. Ultrasound examination showed right hydronephrosis with an APD of 26 mm (). Diuretic renal scintigraphy with Tc 99m DTPA showed right renal pelvic dilatation with an obstructive pattern of radiotracer washout and a differential renal function of 40% (). Follow-up renal ultrasound at 2 months of age showed the persistence of high grade right hydronephrosis with mild thinning of the renal cortex.
Based on a preoperative working diagnosis of right pelviureteric junction obstruction, the patient was scheduled for right pyeloplasty. Routine intraoperative cystoscopy and right retrograde pyelography prior to pyeloplasty showed that the contrast was unable to pass beyond a proximal ureteric narrowing, with subsequent application of higher pressure resulting in reflux toward the urinary bladder ().
Surgery began with a transverse muscle splitting incision through the right upper abdomen. The right pelvic-ureteric junction was wide and patent (). However, right ureteric focal narrowing was observed 4 cm from the pelviureteric junction, with distal ureterotomy showing no flow of urine through the right ureter (). This short segment, about 3 mm in length, was opened longitudinally in a retrograde manner, revealing a diaphragm-like transverse valve. This ureteric segment was excised and an end-to-end ureteroureterostomy was fashioned following spatulation of the two ends over a DJ stent, which was removed uneventfully after 5 weeks. Histological examination of the excised ureteric segment showed normal urothelial lining, with no evidence of fibrosis or inflammation, and a valve-like membranous protrusion perpendicular to the wall of the ureter, which did not contain smooth muscles or an extensive urothelial covering (). The patient remained asymptomatic on follow-up, with ultrasound imaging 3 months later showing improvement of right renal hydronephrosis. |
pmc-6450252-1 | A nine-year-old boy presented with a slowly progressive swelling at the dorso-ulnar aspect of the proximal phalanx of the fifth finger of the left hand. CR performed five years previously revealed a well-delineated cortical lesion, originally interpreted as a non-ossifying fibroma (Figure ). CR at admission showed lesion enlargement, consisting of two components. The largest juxta-cortically part eroded the dorsal cortex with overhanging bony edges. The smaller rounded intramedullary part was well-delineated with sclerotic borders (Figure ). Subsequent MRI was performed to evaluate soft tissue and bone marrow involvement. On (FS) T1-weighted images (WI) the lesion appeared isointense to muscle with well-defined borders (Figure ) and was hyperintense on T2-WI (Figure ). Peripheral enhancement was seen (Figure ). CBCT revealed cortical saucerization, cortical breakthrough and focal extra-osseous extent of the lesion (Figure ).
The lesion was resected followed by bone grafting. Histopathological examination revealed a benign cartilaginous lesion (Figure ). |
pmc-6450252-2 | A 59-year-old woman presented with a slowly progressive swelling for 12 months at the middle phalanx of the right third finger (Figure ). CR revealed a juxta-cortical radiolucent lesion, consisting of two components. The smaller intramedullary part was well-delineated and surrounded by a sclerotic rim. The larger exophytic component consisted of a bony protuberance with adjacent soft tissue swelling. Focal cortical breakthrough was present (Figure ).
MRI confirmed a juxta-cortical lesion with associated intramedullary extension. The lesion was isointense to muscle on T1-WI (Figure ) and hyperintense on FS T2-WI (Figure ) and showed ring-and-arc enhancement (Figure ). CBCT revealed an osteolytic lesion with a small intramedullary and a larger juxta-cortical component with very subtle matrix calcifications and cortical saucerization (Figure ).
The lesion was resected and filled-up with bone grafts. Histopathology demonstrated a benign cartilaginous tumor (Figure ). |
pmc-6450254-1 | A 61-year-old man was referred for computed tomography (CT) of the sinusal cavities. Unusual lace-shaped bone growths were found all along the facial-vestibular side of the maxillary (Figure ). These growths had developed at the level of projection of apex of the dental roots. They appeared well-differentiated with a finely demarcated cortical bone (white arrows) covering a well-structured but rather loose cancellous bone (black stars). The density of this loose cancellous bone was sharply distinct from that of the more mechanically stressed cancellous bone (white stars) surrounding the dental roots.
Coronal oblique reconstructions (Figure ) and bony volume rendering views (Figure and ) illustrated the nodular appearance of these buccal exostoses (white arrows) giving to the global involvement a “pearl necklace” appearance.
These asymptomatic exostoses were known by the patient for a long time and had developed for many years. The patient had no mandibular exostosis, nor mandibular or palatine tori. |
pmc-6450255-1 | A 75-year old man presented to his oncologist with a loss of appetite and a left lumbar pain. He was diagnosed two years earlier with focal adenocarcinoma of the pyloric region of the stomach and subsequently underwent partial gastrectomy.
Blood analysis showed renal insufficiency with glomerular filtration rate down to 36 ml/min/1.73 (compared to 85 ml/min/1.73, 6 months earlier).
A non-contrast computed tomography (CT) was performed, showing bilateral hydronephrosis and a diffuse thickening of the bladder wall (Figure ) that was not present six months earlier (Figure ).
Subsequently, cystoscopy and biopsy were performed, showing an extensive vegetative lesion in the bladder (Figure ).
Histopathology showed a preserved epithelium with infiltration of the chorion, lymphatic permeation (Figure ), and signet ring cells (Figure ). While signet ring cells can be found in a number of tissues, they are most frequently associated with stomach cancer. In addition, immunostains of GATA3 and p40, which are sensitive markers for the differential diagnosis of bladder tumors, were negative, thus confirming an adenocarcinoma of gastric origin. |
pmc-6450574-1 | A 21-year-old man with a history of traumatic right brachial plexus injury presented for brachial plexus exploration and possible nerve transfer after known avulsion injury of the C7 nerve root, resulting in loss of function in upper trunk innervated musculature, and incomplete recovery of C7-C8 nerve root innervated musculature function. Due to large pseudomeningocele obscuring the view of the nerve roots, C5 nerve avulsion was not detected on MRI. Preoperatively, bilateral UHFUS (70 MHz) images of the distal median nerves at the wrist were obtained. Intraoperatively, the brachial plexus was examined by placing the UHFUS probe directly on the roots as they exited the neural foramina to evaluate the degree of nerve avulsion from the spinal cord and feasibility of nerve transfer. In addition to confirmation of C7 avulsion, an avulsion of C5 was discovered and confirmed with absence of somatosensory evoked potentials upon stimulation, a diagnosis not originally made on MRI. A spinal accessory nerve-to-suprascapular nerve transfer and intercostal nerve transfers to the biceps branch of the musculocutaneous nerve were performed to restore neuromuscular function of the upper-limb (). |
pmc-6450589-1 | A 47-year-old white male presented with recurrent severe dizziness, chest tightness, shortness of breath, left upper back pain, night sweats, and chills of three weeks duration. His past medical history consisted of a 20 pack/year history of smoking and squamous cell carcinoma of the tongue, status-post excision with subsequent radiation and chemotherapy a year and a half prior to his presentation. He also had recurrent disease with biopsy-proven metastatic disease in the cervical lymph nodes nine months after the initial diagnosis and multiple lung nodules on CT and PET scans six months thereafter. He was continued on immunotherapy with nivolumab with subsequent cycles planned.
He was admitted for workup of the near syncope. A CT of the chest on admission revealed a filling defect in the left brachiocephalic vein extending into the right atrium and a filling defect in the right ventricle believed to be a thrombus. Heparin anticoagulation was initiated for possible thrombus in transit and a suspected pulmonary embolus (PE). Ten hours later, the patient developed severe diaphoresis, associated with inspiratory chest pain and shortness of breath. An electrocardiogram (ECG) revealed diffuse ST elevation, and a stat TTE revealed a large pericardial effusion with tamponade physiology. Emergent pericardiocentesis was performed and 1,600 cc bloody pericardial fluid was drained; the pericardial drain was left in for 24 hours with no significant additional drainage. Cytology of the pericardial fluid was negative. The patient’s shortness of breath persisted at rest and was associated with a low-grade fever (100.2° F). He experienced repeated episodes of hypotension and tachycardia, requiring intermittent fluid resuscitation and pressor support.
A follow-up TTE (Figure ) and TEE (Figure ) revealed a growing right-sided mobile mass in the right atrium, right ventricle, and pulmonary artery (PA), which was believed to be a large thrombus.
In view of cardiac tamponade with a rapidly accumulating pericardial effusion on anticoagulation and a presumed larger thrombus burden, interventional radiology and cardiothoracic surgery evaluations were sought. The patient was deemed to be too high-risk for thrombectomy or thrombolytics. At the recommendation of the Oncology Service, in view of the hemorraghic pericardial effusion, a fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) scan was performed for further assessment (Figure ). It revealed that in comparison to a study performed two months prior, the enlarged left subclavicular node appeared more hypermetabolic and had increased in size. The hypermetabolic node in the left posterior hilar region was not apparent on the previous exam. This patient's right infrahilar mass (previously measured 1.6 x 1.2 cm in size) had increased in size and now measured 3.6 x 3.1 cm in size. It was also felt to be more hypermetabolic. A new hypermetabolic left superior pericardial lesion was also noted.
The patient was transferred to a tertiary care center where, after a multidisciplinary assessment, a repeat CT scan of the chest was performed one week after the above-mentioned CT scan (Figure ). The interval CT scan of the chest (Figure ) revealed a left neck enhancing mass and thrombosis of the left subclavian, brachiocephalic, and atrio-caval junction with collaterals. An acute right upper lung PE was noted.
It also revealed a necrotic, enhancing mass invading the myocardium and right heart measuring 8.1 x 5.8 cm with nodular enhancement of the pericardium with the extension of this mass into the right ventricle outflow tract (RVOT). Hilar and mediastinal lymphadenopathy measuring up to 2.7 cm was also noted. There was no evidence of any venous invasion by the tumor. In view of this, an echocardiogram was obtained at the tertiary care center which revealed a large echodensity in the RVOT and the PA, which appeared to be more echogenic than the thrombus noted elsewhere in the right heart (Figure ).
It was concluded that the patient had developed pericardial metastatic disease with erosion into the right ventricle and the RVOT correlating to the new echodense mass that had been noted to develop on the serial echocardiograms. At this time, the patient was discharged on full-dose enoxaparin anticoagulation with plans for nivolumab as an outpatient. Referral to outpatient palliative care was made. |
pmc-6450591-1 | A 64-year-old Caucasian male with a medical history of hypertension and symptomatic bradycardia status-post pacemaker implantation presented to the emergency department with the chief complaint of swelling of the right upper extremity for three weeks. It progressed to a generalized swelling of the right shoulder and right side of the neck, restricting his arm movements. He also voiced the concern of worsening shortness of breath which started with the swelling. He did not report any personal or family history of thrombophilia. There was no previous history of any excessive upper extremity exertion or catheterization in the neck. Vital signs on presentation were a blood pressure of 127/61 mmHg, pulse rate of 79/minute, good volume, regular rhythm with no radio-radial or radio-femoral delay, respiratory rate of 19/min with a saturation of 93% on 3-liters nasal cannula, and temperature of 97.5oF. Physical examination revealed right upper extremity swelling without any sensory or motor deficits, right-sided neck swelling, and right-sided facial plethora. Examination of the contralateral arm, as well as the cardiovascular and respiratory systems, was normal. Biochemical investigations were within normal limits. The patient underwent a right upper extremity duplex ultrasonography which revealed an acute non-occlusive thrombus in the proximal right internal jugular vein (Figure ) and right subclavian vein (Figure ) at the cephalic vein confluence. At this point, Factor V Leiden, anti-thrombin III, protein C, and protein S levels were ordered which were normal. The patient was admitted to the medical ward and an intravenous heparin infusion was initiated. Chest radiography did not reveal any cervical rib, and computed tomography (CT) pulmonary angiography showed no evidence of pulmonary embolism. The swelling improved over the course of two days, and the patient was switched to oral apixaban for anticoagulation. He was discharged on apixaban for six months, and a complete resolution of his signs and symptoms was noted at his three-month follow-up examination. |
pmc-6450595-1 | The patient is a 50-year-old, right-handed, male laborer who suffered a crush injury of the left hand (Figure ). He suffered from an open, severely comminuted fracture of the middle phalanx of the small finger with extensor mechanism disruption. The fracture extended to both the proximal and distal articular surfaces (Figure ). The neurovascular function of the digit was normal. Immediately, a dose of first-generation cephalosporin and clindamycin was given. On a standard hand table, with the patient in the supine position, with regular draping and detailed irrigation, a digital nerve block was performed in order to proceed to the operation. After careful debridement, two K-wires, as previously described, were inserted, bent, and secured. The fracture was reduced due to the principle of ligamentotaxis (Figure ). After that, the extensor mechanism of the digit was repaired with non-absorbable sutures and the skin was closed appropriately (Figure ). The patient remained hospitalized for 48 hours for intravenous antibiotics and he continued with oral antibiotics until seven days postoperatively. He had a follow-up at one, two, and four weeks postoperatively and, after that, at eight weeks when the fracture was fully healed and the device removed. He started a rehabilitation program with slight mobilization and for six weeks after the device removal, work and sports activities were not permitted to avoid a new hand injury. Six weeks after the device removal, he fully returned to work and daily activities. |
pmc-6450816-1 | A 27-year-old man with a 10-year history of BD, which had been left untreated for the preceding 2 years, referred to our cardiovascular surgery department with symptoms of serious aches in the left arm, edema, and apparent veins on the left anterior chest wall. The color Doppler ultrasonography of the left upper extremity venous system showed a total thrombosis of the left internal and external jugular veins and the left subclavian vein.
A single dose of low molecular weight heparin (LMWH) (7500 IU/0.3 mL of bemiparin sodium) treatment for a day, antibiotics, and anti-inflammatory drugs were ordered. One month after the hospital discharge, the patient returned to our clinic with symptoms of dyspnea and coughs. A physical examination revealed decreased occultation sounds in the middle and bottom fields of the left thorax. A posteroanterior direct chest radiograph illustrated a consolidated region, in line with the auscultation findings (). A milky liquid was aspirated via thoracocentesis from the left thorax and was subsequently biochemically analyzed; the results demonstrated total protein of 4.3 g/dL, albumin of 2.2 g/dL, total cholesterol of 47 mg/dL, and triglycerides of 287 mg/dL.
In light of the findings, a diagnosis of chylothorax was established. The patient was hospitalized and received single doses of LMWH, 0.5 mg of colchicine, 40 mg of an oral corticosteroid (prednisolone), 2 doses of oral immunosuppressive therapy (50 mg of azathioprine), and a high-carbohydrate and low-fat dietary regimen. A left thoracic drainage system was established for the patient. On the seventh day of hospitalization, due to a progressing cheilosis flow, a pleurodesis process was applied with talcum powder. However, the chylothorax progression continued for the following 3 days. Venous autologous blood (60 mL) was injected into the left thorax via a drainage tube, which was clamped in order to avoid the leakage of the blood back through it. For the ensuing 3 hours, the patient was moved into different lying positions. Two days later, the cheilosis flow decreased to an acceptable level, and the dietary limitations were canceled. At the end of the 15th day following the autologous blood pleurodesis process, the cheilosis flow totally disappeared. The patient was discharged with a treatment of an oral anticoagulant (5 mg of warfarin) and a single dose of an oral immunosuppressive therapy (50 mg of azathioprine). One month after the hospital discharge, no pathology was observed on a posteroanterior direct chest radiogram (). |
pmc-6450817-1 | A 53-year-old male patient presented to our cardiology department with a retrosternal chest pain of 2 months’ duration. On medical history, the patient was diagnosed with hypertension 2 years previously and was prescribed a valsartan–amlodipine combination. Electrocardiography revealed a normal sinus rhythm without ischemic findings. The blood pressure of the patient was 130/80 mm Hg. On physical examination, auscultation of the chest showed no murmurs or pathologic sounds and the other systems were normal. Transthoracic echocardiography demonstrated a normal left ventricular systolic function, mild mitral regurgitation, and grade 1 diastolic dysfunction. The exercise stress test yielded a Duke treadmill score of -12. Hence, coronary angiography was scheduled and performed via the femoral artery using a 6-F Judkins left diagnostic catheter. The results showed a critical stenosis in the proximal LAD (). Therefore, a decision was made to perform a percutaneous coronary intervention on the proximal portion of the LAD. Following the decision, a 6-F Judkins left guiding catheter was passed through the femoral artery to the ostium of the left main coronary artery. Before wiring, intracoronary nitroglycerine was used in order to exclude vasospasm. A choice floppy guide wire (Boston Scientific, Natick, MA, USA) was used, and its 3-cm radiopaque tip was placed in the distal part of the LAD. The wiring was followed by the occurrence of pseudolesions (the concertina effect) at the mid and distal segments of the LAD and the disappearance of the proximal LAD lesion. The disappearance of the true lesion was considered to be secondary to the CP (). Interestingly, the LAD did not have a high tortuous course. The pseudolesions were refractory to the intracoronary nitroglycerine injection. The choice floppy guide wire was withdrawn since the proximal critical lesion was lost in the angiographic images secondary to the accordion effect. The pseudolesions disappeared after the choice floppy guide wire was placed in the mid LAD (). A 3.0 × 16 mm PROMUS Element Stent (Boston Scientific, Natick, MA, USA) was deployed at 14 atm in order to prevent ischemic arrhythmias (). After the intervention, the patient remained in very good clinical status and was discharged on the third postprocedural day. |
pmc-6450963-1 | The proband (Fig. ; II-2) in the family was a 57-year-old man who was experiencing depression, anxiety, and mild cognitive impairment for 3 years. His neurologic examination findings revealed mild cerebellar ataxia (Table ). Computed tomography (CT) images revealed marked calcification in the bilateral globus pallidus, caudate nuclei, pulvinar thalami, and dentate nuclei (Fig. ). His deceased father (Fig. ; I-1) had dementia. Moreover, CT images of his father showed similar findings to those of the proband (Fig. ). The son of the proband (Fig. ; III-1) had been treated for panic disorder since his teen years. He had the same variant as that of the proband. However, we have not confirmed brain calcification on CT images of III-1. |
pmc-6450963-2 | The proband (Fig. ; II-2) was a 16-year-old woman. She presented with headaches and had been refusing to attend school since 10 years old. Her neurological examination findings were normal (Table ). CT images revealed spotty calcification in the bilateral globus pallidus and caudate nuclei and mild calcification in the thalamus, subcortical white matter, and dentate nuclei (Fig. ). Her mother (Fig. ; I-2) had the same variant, and she also presented with headaches and prominent calcification in the bilateral globus pallidus, caudate nuclei, thalamus, dentate nuclei, and subcortical white matter (Fig. ). On the basis of these results, the calcification was believed to progress with age. Although her third brother (Fig. ; II-5) was asymptomatic, he showed mild calcification in the globus pallidus on CT images obtained when he encountered a traffic accident (Fig. ). Considering his age, this calcification was pathologic (total calcification score = 6). The calcification in other regions of the brain, including the dentate nuclei of the cerebellum, could not be detected. DNA analysis revealed the same variant (Fig. ; II-5). Her eldest brother did not present with the variant. Thus, no calcification was observed on CT images (data not shown) (Fig. ; II-1). Her younger sister was in a nursing institution because of mental retardation, and a detailed clinical information about her sister was not available (Fig. ; II-4). |
pmc-6450963-3 | The patient was a 71-year-old man who often presented with dizziness since 70 years old. He had mild cognitive impairment (mini-mental state examination [MMSE] score: 23) and mild bradykinesia based on his neurological examination (Table ). Brain CT images showed calcified areas in the bilateral globus pallidus, caudate nuclei, pulvinar thalami, dentate nuclei, and subcortical and periventricular regions (Fig. ). |
pmc-6450963-4 | The patient was a 60-year-old woman who had memory impairment accompanied with avolition since 50 years old. At age of 53, brain calcification was detected on CT images. She developed dementia at age 56 and underwent a medical examination at age 60. Her MMSE score was 13. She presented with impaired postural reflexes and signs of frontal lobe impairment, and she did not have any other neurological problems except for postural instability (Table ). Brain CT images revealed calcification in the bilateral globus pallidus, caudate nuclei, pulvinar thalami, dentate nuclei, and subcortical white matter as well as atrophy in the medial temporal lobe (Fig. ). Furthermore, single photon emission computed tomography and positron emission tomography (PET) images showed decreased signals in the striatum and temporal and parietal lobes, and [11C] Pittsburgh compound B (PiB) retention was observed on [11C] PiB PET (data not shown), which suggests that she also had Alzheimer’s disease. Unfortunately, the patient had not come to our hospital in the past. Then, we could not measure the level of PDGF-BB in the serum and produce iPS cells from the patient. |
pmc-6450984-1 | A 71-year-old man was referred to our center owing to the presence of a large right lung cancer, which was 18 cm in size and classified as clinical stage T4N0M0). The patient had parathyroid hormone-related peptide-mediated hypercalcemia and obstructive pneumonia. Following the treatment of hypercalcemia and pneumonia, we performed right pneumonectomy via posterolateral thoracotomy by dividing the latissimus muscle and a part of the serratus anterior muscle. The bronchial stump was covered with a pedicled intercostal muscle flap, achieving pathological curative resection. Pathological findings demonstrated acinar-predominant adenocarcinoma with wild-type EGFR and ALK and low PD-L1 expression—tumor proportion score (< 1%); the pathological stage was the same. His postoperative course was uneventful, and he was discharged on postoperative day (POD) 12. However, he was re-admitted to our center due to respiratory failure and severe sepsis on POD 30 owing to PPE combined with BPF. We performed thoracotomy debridement immediately, which demonstrated foul-smelling pus filling the cavity, intercostal muscle flap necrosis, and bronchial stump dehiscence 20 mm in diameter. Considering his poor general condition, we gave up primary closure of the BPF and performed OWT. The blood and thoracic pus cultures revealed Streptococcus anginosus and anaerobic gram-negative rods; therefore, the patient was treated with carbapenem for 2 weeks. After performing OWT, the color of the thoracic cavity wall and pleural effusions gradually turned spotty blue and green, and P. aeruginosa was cultured from the gauze after 1 month. Given the patient’s improved condition, we performed several debridement procedures for sterilization, and a thin granulation tissue covered the whole cavity, but P. aeruginosa was still present. Eight months after the fenestration, we closed the BPF with the pedicled omental flap. Laparotomy was performed to expose the omentum, which was dissected and brought into the pleural cavity through an incision in the diaphragm. Separation of the bronchial stump from the mediastinum and direct closure of the fistula seemed to be unsuccessful; thus, we used the vascularized omental flap as a patch and placed it to the edges of the fistula. The omentum was placed on the stump to cover the fistula and fixed with interrupted 4–0 monofilament sutures to achieve airtight closure. We only administered cefazoline to prevent surgical site infection, but not covering P. aeruginosa. The patient did not experience abdominal complications or adverse events caused by P. aeruginosa postoperatively. We continued to change the dressing daily through fenestration with bared omentum, which soon became granulated. On POD 3, air leakage from the stump occurred, which was detected by the sound of air flow and vibration of the omentum. It was managed by granulation on POD 5. The BPF was closed definitively using the well-vascularized omental flap (Fig. a–c). BPF closure promoted the accelerated growth of the healthy thick granulation tissue covering the whole cavity, thereby reducing the cavity size (Fig. a–c). We could not completely eliminate the bacteria from the cavity, and a small amount of yellowish exudate still contained P. aeruginosa (Fig. d). While considering the timing of definitive chest closure, cancer recurrences were detected in the brain and contralateral lung at 4 months after the bronchial closure. Brain metastasis was treated with radiotherapy, and the lung nodule was only observed closely. We decided to proceed with the definitive chest closure. We explained the risk and benefit of thoracostomy closure to the patient, who was eager to return to his normal activities of daily living. At 5 months after the bronchial closure, we simply closed the window using a pectoralis major flap (Fig. a) without performing complete obliteration of the cavity, such as thoracomyoplasty or antibiotic filling. Split-thickness skin graft obtained from the thigh covered the area where the pectoralis major was harvested (Fig. b). Cefazoline was administered intravenously to prevent surgical site infection, but not covering P. aeruginosa. The postoperative course was uneventful, and the residual cavity was gradually filled completely with pleural effusion but without any symptoms of infection (Fig. a). Thoracentesis performed at 3 months after chest closure demonstrated slightly cloudy and yellowish pleural effusion, and P. aeruginosa was cultured from the fluid (Fig. b). The pleural cavity seemed to contain a “silent empyema.” He was finally discharged and returned home at 15 months after the first pneumonectomy. The patient chose to receive supportive care. He died at 24 months after the pneumonectomy (10 months after the definitive chest closure) owing to recurrent cancer in the contralateral lung. Until he died, there were no symptoms or signs suggestive of recurrent empyema. Patient consent was obtained for the publication of this report. |
pmc-6450996-1 | The patient (patient 1) was a 16-year-old Japanese girl who was the first child of healthy nonconsanguineous parents. At 3 years of age, she was referred to our hospital because of microscopic hematuria without proteinuria. She appeared healthy with a normal weight and height for her age. She had no clinical hearing loss or ocular abnormalities. A urinalysis showed 3 + hematuria with urine sediment containing more than 100 red blood cells per high-power field. Blood laboratory results, such as blood urea nitrogen level, serum creatinine level, immunoglobulin levels, complement quantification level, and autoantibodies were normal. Renal ultrasonography was unremarkable. At 13 years of age, a renal biopsy was performed to be suspected IgA nephropathy, because, at that time, there were sometimes gross hematuria attacks when she caught cold. Periodic acid–Schiff (PAS) staining (Fig. , upper left) showed mild mesangial proliferation. Other findings of the tubules and interstitium showed no significant alterations. Staining of IgA in immunofluorescence (IF) was negative; histopathological and clinical diagnosis at biopsy was non IgA nephropathy. The findings of electron microscopy (EM) were not evaluated at this time.
The mother of patient 1 (patient 2) was healthy without renal dysfunction, deafness, or ocular abnormalities. However, at 40 years of age (3 years after patient 1 underwent the renal biopsy), she was referred to our hospital for chance proteinuria and chance hematuria. Her urinalysis showed 2 + proteinuria (P/Cre 2.3 g/gCr) and 1 + hematuria with urine sediment containing 5–9 red blood cells per high-power field. Her blood urea nitrogen level, serum total protein level, and complement quantification level were normal; however, she had an increased serum creatinine level (1.57 mg/dL). Patient 2 showed atrophy right kidney when she was referred to our hospital, so we could not do her renal biopsy.
Subsequently, we re-evaluated the EM and IF data for alpha 5 chains of type IV collagen in patient 1 (antibody H53; Shigei Medical Research Institute, Okayama, Japan). EM demonstrated irregular thickening (maximum: 1,046 nm) and thinning (minimum: 192 nm) of the glomerular basement membrane (GBM; Fig. , right). IF staining for alpha 5 chains of type IV collagen showed segmental and mosaic patterns in the GBM and Bowman’s capsule (Fig. : lower left).
After the whole-exome sequencing study was approved by the Ethics Committee of Tokyo Medical University, written informed consent was obtained from the patient and both of her parents.
Peripheral blood mononuclear cells were isolated from 5 mL of whole blood with Ficoll-Paque™ PLUS (GE Healthcare), and genomic DNA was extracted using QIAamp® DNA Blood Mini Kit (Qiagen). Exome enrichment and library preparation were performed with Ion Ampliseq™ Exome RDY Kit PI v3 (Thermo Fisher Scientific) and Ion Xpress™ Barcode Adapters (Thermo Fisher Scientific). Library concentration was measured with Ion Library™ TaqMan Quantitation Kit (Thermo Fisher Scientific). After template preparation using Ion PI™ Hi-Q™ Chef kit (Thermo Fisher Scientific) on the Ion Chef™ system (Thermo Fisher Scientific), sequencing was performed with the Ion Proton™ sequencer (Thermo Fisher Scientific). VCF files were generated from the sequence data using the Torrent Suite™ software on the Torrent Server. All parameters were used at the default settings. VCF files were annotated with ANNOVAR.
Deleterious variants were filtered using the following settings. Variants on exon or splice sites of Alport syndrome-causing genes (COL4A3, COL4A4, and COL4A5), an allele frequency of less than 1% in the Human Genomic Variation Database or the 1000 genome project, were not observed in in-house data. Validation of the results was performed by the standard Sanger sequencing techniques using with the ABI PRISM 310 Genetic Analyzer.
Patients 1 and 2 were found to have a heterozygous variant in COL4A5 (NM_000495.4: exon41:c.C3769T: p.Q1257X), whereas the father of patient 1 did not have this variant (Fig. ). |
pmc-6450998-1 | An 86-year-old man was admitted to our hospital with a 3-day history of acute abdominal pain. The patient had no previous medical history. A physical examination revealed marked right upper quadrant pain with normal bowel sounds. Murphy’s sign was positive. His vital signs were within the normal range. Abdominal ultrasonography revealed an enlarged gallbladder with surrounding fatty tissue inflammation. The blood biochemistry was essentially normal, including C-reactive protein (1.9 mg/dL) and total bilirubin (1.4 mg/dL) levels. An enhanced computed tomography examination revealed an enlarged gallbladder and incarcerated gallstone. Gallbladder wall enhancement was discontinued, and the fundus of the gallbladder was located centrally beyond the round ligament (Fig. ). The round ligament was attached to the right umbilical portion, which was associated with the anomaly of the intrahepatic portal vein system (Fig. ). Magnetic resonance cholangiopancreatography demonstrated the root of the cystic duct, while the middle portion of the cystic duct was unclear (Fig. ).
With the preoperative diagnosis of grade II acute gangrenous cholecystitis according to the 2018 Tokyo guidelines or gallbladder torsion, LC was planned. The first port was inserted into the umbilicus, and an enlarged and reddish gallbladder was observed. The gallbladder was swollen; however, torsion was not detected intraoperatively. The second port was placed in the epigastric area, while others were at the right hypochondriac and right lumbar regions. The gallbladder was attached to the left side of the hepatic round ligament (Fig. ). The cystic duct and the cystic artery were located in the normal positions. Severe inflammation and the narrow working space between the epigastric port and the gallbladder made it difficult to dissect Calot’s triangle; however, the cystic duct and the cystic artery were resected after the critical view of safety was confirmed. Due to the severe inflammation, a subtotal cholecystectomy was finally performed. The operative time was 178 min, and intraoperative blood loss was 50 mL. The pathological diagnosis was acute cholecystitis with a mucosal ulcer. The patient was discharged on the fifth day after surgery without postoperative complications. |
pmc-6451023-1 | A 21-year-old female Caucasian presented two days after a 24 h long-distance flight. On the morning after the flight, shortness of breath, thoracic tenderness, and overall physical discomfort developed. Tenderness increased the next day. Clinical examinations revealed good general condition/nutritional status (body mass index of 18.7), with no signs of dyspnoea or fever. Blood tests revealed acidosis (pH: 7.15; reference value: 7.26–7.46), and hyperglycaemia (glucose: 418 mg/dL; pre-prandial reference value: 90–120 mg/dL) congruent with diabetic ketoacidosis. Electrocardiogram was unremarkable.
Computed tomography (CT) excluded pulmonary embolism but demonstrated mediastinal emphysema (Fig. ). Therapy started with nasal oxygen and corrective insulin dosage. Subsequently, pH in venous blood increased to 7.294 at a standard base excess of −11.8 mmoL/L (−2 to +3 mmoL/L), standard bicarbonate of 15.5 mmoL/L (21–26 mmoL/L), partial pressure of carbon dioxide (pCO2) of 28.5 mmHg (41–51 mmHg), partial pressure of oxygen (pO2) of 52.9 mmHg (20–49 mmHg), and saturated oxygen (sO2) of 87.5% (70–75%). Glucose decreased to 354 mg/dL. Haemoglobin A1c at 13.2% (<5.7%; therapeutic target value in adults with diabetes mellitus type 1 (DMT1) < 7.5%) indicated chronic diabetic derailment. D-dimers were increased at 0.83 μg/mL (<0.5 μg/mL).
CT four days later showed full resolution of mediastinal emphysema (Fig. ).
Further inquiry revealed no specific events during or before the flights (two stopovers, no elevator rides). No nausea, vomiting, coughing, or ear pain was noted during the flight or immediately thereafter. Valsalva manoeuvres were not performed.
DMT1 had been diagnosed eight years earlier and treated thereafter with insulin glargine and lispro. Blood glucose profiles had been sub-optimal, but no symptoms arose. Other/previous illnesses and smoking were denied.
The patient was discharged on the fifth day. Diabetological supervision was recommended. |
pmc-6451211-1 | Eleven years prior a seventy-year-old woman had undergone transthoracic radical oesophagectomy and cervical lymphadenectomy for OSCC (pathological T1bN0M0 stage I, according to the 7th edition of the Union for International Cancer Control/American Joint Committee on Cancer staging system). Seven years after surgery, computed tomography (CT) revealed lymph node recurrence at the splenic hilum, which was treated with four courses of cisplatin plus 5-fluorouracil. Treatment reduced the size of the lymph node, although 1 year later, lymph node metastasis was detected again at the pancreatic tail and splenic hilum (Fig. ). Chemoradiotherapy (50 Gy in 28 fractions) resulted in a complete response at the lymph nodes. However, 11 years after surgery, a cystic solid tumour was detected at the pancreatic tail using CT (Fig. a–b) and endoscopic ultrasonography (Fig. a). A change in the main pancreatic duct was also detected using endoscopic retrograde pancreatography (Fig. b). No other metastases were seen on evaluation with positron emission tomography/CT (Fig. ), which strongly suggested primary pancreatic tail cancer with lymph node metastasis. Intraductal papillary mucinous carcinoma was one of the differential diagnoses that were considered. Distal pancreatectomy and splenectomy with lymphadenectomy were performed to treat the tumour, which had a diameter of 30 mm and appeared to invade the artery of the gastric tube that had been reconstructed during the oesophagectomy. Thus, the artery was also resected to achieve curative resection. Operative time was 190 min and blood loss was 30 mL. The resected specimen from the pancreatic tail measured 29 × 22 × 30 mm (Fig. ). Pathological examination revealed that the tumour was a squamous cell carcinoma, which was compatible with the detection of the previous OSCC. The final diagnosis was pancreatic metastasis from OSCC (Fig. ). The resected metastatic lymph nodes at the splenic hilum also exhibited squamous cell carcinoma cells. The patient was discharged after an uneventful recovery. She is continuing clinical follow-up without adjuvant therapy and has been disease-free for 24 months after resection of the pancreatic metastasis. |
pmc-6451220-1 | A 68-year-old Japanese woman, previously diagnosed as having large AVMs, sustained a right femoral shaft fracture due to a slip and fall from standing. Bruising of the right thigh and limping were noted since 3 years of age. She was diagnosed as having AVMs at 63 years of age (Fig. a and b), but did not receive any treatment.
At the time of admission, she presented with massive swelling and venous varicosities of the right thigh. Plain radiography of the right thigh revealed fracture of the femoral shaft with bony erosion and numerous phleboliths (Fig. c). Computed tomography showed enhanced AVMs and phleboliths in the quadriceps femoris and the hypotrophy of the femur. In addition, the intramedullary canal was very narrow (Fig. a, b and c), so intramedullary nailing would be difficult. Three-dimensional computed tomography angiography showed the AVMs were fed by the branches of the deep and superficial femoral artery (Fig. d). We planned closed reduction and intramedullary nailing using elastic nails fixed to a monotube unilateral external fixator.
The day before surgery, embolization of the feeding artery was performed (Fig. a and b). We attempted closed reduction of the fracture using the fracture table, but the procedure was difficult. When we attempted open reduction, however, massive bleeding (1000 mL) after incision of subcutaneous tissue occurred within several minutes. Therefore, we closed the wound immediately. Although an additional procedure carried the risk of further bleeding, we carefully applied a Taylor Spatial Frame (TSF) and performed acute correction (Fig. d). Total blood loss was 2300 mL and she was transfused with 23 units of red cell concentrate, 10 units of fresh-frozen plasma, and 20 units of platelet concentrate. She was subsequently transferred to the intensive care unit and received 8 more units of red cell concentrate.
Her postoperative course was uneventful. Residual displacement of the fracture was gradually corrected over 3 weeks. Teriparatide (20 μg daily) was initiated. After 10 weeks, loosening of the proximal half-pins and re-displacement of the fracture occurred. Thus, we performed replacement of the proximal half-pins (Fig. e). Eventually, bony union was obtained 13 months after the second surgery (Fig. f), and the TSF was removed 2 months later. She began weight bearing gradually with Sarmiento type functional brace []. Teriparatide was administrated for 24 months. Radiographs taken 24 months after surgery showed the facture was completely united (Fig. a and b). The patient became fully ambulatory with Sarmiento type functional brace using 1 cane. |
pmc-6451243-1 | A one-day-old male Hispanic infant was delivered by normal spontaneous vaginal delivery at 40 weeks gestation with no complications. The mother’s pregnancy was complicated by anemia and polyhydramnios, but otherwise the mother had no notable environmental exposures and was healthy. A cystic malformation and possible teratoma of the cord were noted at the first ultrasound at week 23, which was at this time due to late maternal entry into antenatal care. Amniocentesis was performed and revealed a normal male karyotype. A second ultrasound in the third trimester revealed a large multicystic lesion in the left fetal body and significant swelling of the right leg and foot due to similar cystic masses. An MRI scan undertaken three weeks before delivery showed a multiseptate cystic mass in the left supraclavicular region, upper chest, and upper arm. The left lower extremity was asymmetrically smaller than the right lower extremity.
The infant was admitted to the newborn nursery after birth with stable vital signs (weight 3585 g, respiratory rate 40, heart rate 150, SpO2 98%, temperature 37.5 °C). The physical appearances are shown in Fig. A-F. There was obvious enlargement of the right lower extremity (Fig. A,C,D) and left upper extremity (Fig. B,F) and with numerous port wine stains on the chest, arms, lower back, and thighs (Fig. B,C,F). Bullae and vesicular lesions were also noted (Fig. B,F), as was polydactyly of the left hand (Fig. E). These features were compatible with KTS. There was no family history of the disorder.
A coagulation profile was significant for increased prothrombin time (17 s, reference 11–15 s) and high fibrinogen (370 mg/dl, reference 175–350 mg/dl), a profile often seen in newborns and that subsequently normalized the following day, ruling out intravascular coagulopathy. Head and abdominal ultrasounds ruled out internal arteriovenous malformations. Orthopedics assessed the right lower limb hypertrophy and recommended no intervention at that time with outpatient follow-up after discharge. Ophthalmic examination revealed a cutaneous hemangioma on the right upper eyelid, and outpatient follow-up was again advised.
The infant passed the hearing screen and was discharged from hospital in good clinical condition. Over the first year and a half, he developed normally, meeting all of his developmental milestones. Sclerotherapy was successfully conducted on some of his port wine stains, and the extra digit was removed without complication. A genetics evaluation revealed no family history of KTS, but there was a history of polydactyly in the maternal grandfather. Orthopedic review showed no change in the limb hypertrophy. However, he developed a new neck mass that was diagnosed as a lymphatic cyst by ultrasound and, at a year and a half, gross hematuria prompted a renal ultrasound that showed a cystic renal mass. Care was transferred to another hospital at that point. |
pmc-6451252-1 | A 78-year-old male patient followed for castration-resistant metastatic prostate cancer (disease progression despite androgen depletion therapy [], also called CRPC) described highly debilitating and persisting neuralgic dental pain in the left posterior mandibular region. Patient’s oncological history was uncommon: one daughter, two brothers and two sisters died of various cancers. The patient smoked and consumed alcohol. Chemotherapy indicated for prostate cancer had been delayed due to the suspicion of odontogenic infection and the patient was referred to his dentist. After several unsuccessful antibiotic therapies, tooth #37 was finally removed (Fig. ).
A 2-month healing delay of the extraction socket (Fig. ) justified an alveolar incisional biopsy. A CRPC metastasis was suspected. Histopathology revealed a squamous cell carcinoma (SCC), classified cT4aN0M0, which largely invaded the left mandibular body according to imaging assessment (Figs. and ). Hemimandibulectomy and cervical dissection were performed to remove cancer and alleviate patient’s pain. Only one cervical node was infiltrated. The lesion was finally classified pT4N2M0. The patient refused radiotherapy. Given a nodal recurrence of the SCC in the cervical region, Paclitaxel-Carboplatin-Cetuximab chemotherapy in association to a second generation hormonal therapy for prostate cancer helped control the two cancerous diseases for about one year. Patient died before reconstruction. All radiological, anatomical and clinical elements retrospectively concluded to an intraosseous carcinoma cuniculatum (CC) (Fig. ) []. X-rays performed during the dental follow-up did not allow to previously suspect any bone invasion of the CC (Figs. and ). |
pmc-6451287-1 | A 55-year-old man, a social drinker and a technical officer by profession presented to the Teaching Hospital, Peradeniya (THP) in the Central Province of Sri Lanka with a history of headache, gradual alteration of level of consciousness (LOC) and behavioral changes of 3 weeks duration. He was apparently well 7 weeks back and experienced headache, faintishness and vomiting at 2 am while doing a night shift in his work place. After the patient has lost consciousness and become unresponsive. The following day morning, other workers who came for the morning shift found him drowsy and less responsive and took him to the nearest hospital after 6 hours of initial symptoms. On admission, his Glasgow Coma Scale (GCS) was 9/15 and there were no any focal neurological signs. He was haemodynamically stable and respiratory examination was normal with normal pulse- oximeter finding. He continued to have vomiting and diarrhoea over the next 48 h. His full blood count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), liver and renal profiles were normal. He was treated with 6 L of oxygen via a face mask and was managed as food poisoning. He was gradually improving and was discharged from the hospital on the 4th day of admission and he was totally normal on discharge. After discharge he was asymptomatic and was doing day to day activities normally.
After 1 month of initial episodes, he developed reduced self-care, a lack of interest of work in which he was interested before the illness. He found it difficult to work as a technical officer due to low energy, lethargy, poor concentration and reduced memory. He was withdrawn at times and was less communicative. He endorsed poor sleep and had a low mood. His condition deteriorated over the next 2 weeks and developed episodic inappropriate talking, confusion, generalized rigidity of the body and urinary and fecal incontinence. He was unable to identify his family members and developed reduced level of consciousness. He was admitted to the THP 7 weeks after the initial incidence. On admission to the THP, he was haemodynamically stable with blood pressure of 140/90. On neurological examination, he was drowsy with GCS of 11/12 (E3, V3, M5). Pupils were normal in size and well reacting to light, both optic fundi were normal, and all cranial nerves were normal. He had generalized rigidity with hyperreflexia and bilateral extensor plantar response. He gradually developed masklike face, positive glabella sign and primitive reflexes (grasp reflex). Mini-Mental State Examination (MMSE) was unable to take because of his demented status. His full blood count, blood picture, ESR, CRP, serum magnesium and calcium levels, liver and renal profiles were normal (Table ). He had normal electrocardiogram with normal 2D echocardiogram and troponin I was negative. His EEG showed marked generalized slowing of background with multifocal high amplitude waves and delta waves suggestive gross cerebral dysfunction without epileptiform discharges (Fig. ). Non contrast computer tomography (CT) of brain showed prominent cerebral white matter with obliterated sulci with preserved gray-white demarcation and normal ventricular system with no evidence of intra cerebral haemorrhage (Fig. ). His cerebrospinal fluid (CSF) report was normal and CSF was negative for both bacterial studies (light microscopy examination and culture) and viral studies (HSV/Entero/Flavi). The MRI brain showed diffuse high signal intensity involving subcortical white matter, globus pallidus on FLAIR and T2W images (Fig. ). These areas showed high signals in DWI images with no significant changes appreciated on ADC map (Fig. ). There was no abnormal contrast enhancement appreciated in the above areas. Rest of the cerebral hemisphere, ventricular system, brain stem and cerebellum were normal. While investigating this patient (index case) we came to know that another person (2nd case), who did a night duty with our patient and slept in the same room, also had been admitted with our patient to the same local hospital with the initial incidence. He (2nd case) too has experienced vomiting, diarrhoea, faintishness and unsteady gait, but no changing sensorium. On admission to local hospital his (2nd case) unsteady gait improved, and he had vomiting and few more episodes of diarrhoea. He was totally normal on next day and was discharged from the hospital with a diagnosis of food poisoning. Since then he was asymptomatic.
Further inquiry revealed an another incidence happened in the same place after 2 weeks of initial incidence when 8 workers who came from their main office (Colombo) slept in the same room and all of them became ill after being there for about 3 hours. The most common symptoms were headache and faintishness which were experienced by all 8 workers. Six of them had unsteady gait and four of them fallen on ground when they attempted to walk. Five of them experienced lethargy and nausea and two had vomiting. Loss of consciousness was experienced by three patients and duration of loss of consciousness (LOC) was less than 5 minutes in two of them and around 20 min for the other one. Even though, it was impossible to recall the associated seizure by others, one had urinary and fecal incontinence at the time of LOC. Three people had diarrhoea and two experienced burning sensation of throat. All of them were taken out and two became totally normal within 30 min. Another two became normal within 2 hours. Two patients out of three who developed LOC became asymptomatic after 12 h and they were treated with face mask oxygen and other supportive care at the same local hospital. All the symptoms except headache experienced by the person who had LOC of around 20 min settled after 24 h and his headache lasted for 3 days. The remaining patient had headache for 3 days even though his initial symptoms were mild. All of them were discharged from the local hospital on the same day evening.
After this incidence, the work place was examined by the authorities and found to have newly implanted petrol driven generator, in the ground floor of the two-story building in which all victims (patients) slept. It was found that mal functioning generator emitting carbon monoxide when it was on. In both incidences, there had been a power failure requiring power to be generated by this offending generator. Subsequently, we traced all exposed victims and examined them, including the person who developed symptoms in initial incidence with our patient (index case), after 8 weeks of initial exposure. All of them were neurologically normal and all had normal MRI brain imaging.
Depending on the available history, examination, epidemiology of the incidence and the MRI brain finding, the diagnosis of Carbon Monoxide-induced Delayed Neuropsychiatric Sequelae was made. Supportive management was offered to him. He was started on Sinemet (carbidopa levodopa) up to maximum dosages with no clear therapeutic benefit. Dexamethasone was also tried without obvious effect. He was gradually deteriorated over next 2 weeks, exhibited athetoid movements of his feet, and hands and went to rigid akinetic mute state. He could not respond to any stimulation and even displayed decorticate-like posture. His illness was complicated with aspiration pneumonia and died nearly after 3 weeks of admission. His post mortem examination showed evidence of pneumonia mainly in right lung and punctuate haemorrages in the sub cortical white matter of the brain. Histological examinations of all the organs were normal including brain.
All the others who had exposure history were followed up for 1 year and they were totally asymptomatic at 1 year of initial incidence. |
pmc-6451792-1 | A 24-year-old gentleman was presented to the emergency department following a level 1 trauma call for a high-speed road traffic collision (RTC) car vs. car. The patient had a computed tomography (CT) scan of his head, whole spine, chest, abdomen, and pelvis. His injuries included a left occipital condyle fracture, open displaced transverse fracture of the distal diaphysis of the left humerus, multifragmentary oblique fracture of the middiaphysis of the right femur (), displaced multifragmentary fracture of the middiaphysis of the left femur (), displaced right transverse process fractures in L3, L4, and L5, and a right pneumothorax.
The patient had a preceding right BKA from a previous traumatic injury and a past medical history of illicit drug use and steroid abuse. The patient did not take any regular medications and did not have any other comorbidities. |
pmc-6451794-1 | A 53-year-old woman was referenced from primary care physician to her local hospital due to fever at evening and a weight loss of 5% in one month. The patient had a previous history of total hysterectomy and atrophic gastritis and was under proton pump inhibitors. No relevant familial history was known.
At admission, she was pale, with 37.9°C of temperature, normal blood pressure (119/69mmHg) and heart rate (91/min), and 61 Kg of weight (BMI 25.5Kg/m2), without Cushing syndrome signs or other relevant clinical findings.
Patient's laboratory tests at admission () revealed marked thrombocytosis (platelets 743x109/L), normocytic anemia (Hb 10.1 g/dL), and slight leukocytosis (WBC 10.2x109/L) with elevated ferritin, C-reactive protein levels [(22.74 mg/dL (<0.5)], and normal procalcitonin. No pathogenic agents were found on blood, urine, and cerebrospinal fluid cultures nor alcohol-acid resistant bacilli. Viral serological markers were also negative. She also presented elevated fasting blood glucose (130mg/dL) and A1C of 6.4% as well as slight elevation of liver enzymes and decreased albumin. Brain tomography showed no alterations and echocardiogram showed slightly enlarged left atrium and normal left ventricular ejection fraction.
The patient was initially medicated with levofloxacin during 7 days but without any improvement. Then, a thoracic and abdominal tomography (CT) was performed and revealed a nodular lesion of 4.2 cm length, with heterogeneous contrast enhancement, not clear if the origin was the gastric fundus or the left adrenal (). Upper digestive endoscopy showed a hiatus hernia and erosive antral gastritis, without any suspicious features. The abdominal magnetic resonance imaging revealed a left adrenal tumor with 4.3cm length, hyperintense in T2-weighted images and hypointense in T1, with peripheral contrast enhancement and increased washout, possibly indicating a pheochromocytoma. The patient was then referred to our department and when asked, she also referred 3 to 4 episodes per day of palpitations, sweating, headache, and limbs paresthesia, mainly related with efforts, which were not initially considered. At biochemical evaluation, she presented elevation of plasma and urinary normetanephrine [3503 pg/mL (<120) and 5505 ug/24h (50-650) resp.] with plasma and urinary metanephrine and 3-methoxythyramine within reference range (). Adrenal androgens were also normal. However, ACTH was suppressed [<5pg/mL (9-52)] with asleep plasma midnight cortisol [7.1ug/dL (<1.8)], urinary free cortisol [96ug/24h (10-80)], and cortisol after 1 mg overnight dexamethasone suppression test (3.7ug/dL) slightly elevated, consistent with autonomous cortisol production. 125I-metaiodobenzyl guanidine (MIBG) scintigraphy showed an accumulation of the isotope in the left adrenal tumor. After integration of these clinical, laboratory, and imaging data, the diagnosis of pheochromocytoma was made. In the presence of a SIRS in a patient with a newly diagnosed pheochromocytoma, the measurement of plasma IL-6 was requested and it was elevated [26.7 ng/L (<7.0)], consistent with IL-6-producing pheochromocytoma. Biochemical screening of MEN2 syndrome was negative.
Patient started preoperative alpha-blockade treatment with phenoxybenzamine 10 mg id that was increased to 10 mg 2id after one week and beta-blockade treatment was added with propranolol 10 mg id. During treatment, her minimum BP was 86/53mmHg and maximum was 116/57mmHg and minimum heart rate was 73/min and maximum was 115/min. She remained without fever during this period. After 23 days of alpha-blockade single-port laparoscopy, left adrenalectomy was performed without complications. Histological examination showed a well-delimitated pheochromocytoma with 3.0x2.5x1.8cm and potential malignant biological behavior with PASS score = 11 () (potential malignant biological behavior if PASS score ≥ 6 []). Immunohistochemistry revealed strong positivity to chromogranin A, synaptophysin, and neuron-specific enolase and negativity to cytokeratin AE1/AE3, calretinin, and inhibin A. Ki67 proliferation index was 1-2%. After surgery, the alpha- and beta-blockade was stopped and due to autonomous cortisol production with suppressed ACTH, hydrocortisone was initially prescribed at stress dose and then tapered to 20 mg per day.
In reevaluation two months after surgery she had no complaints. Plasma and urinary normetanephrine were within reference range and IL-6 was undetectable (). Total blood count and inflammatory parameters have all normalized. Hydrocortisone was tapered to suspension just before revaluation and a short Synacthen® test was performed, which excluded adrenal insufficiency (plasma cortisol 60 minutes after 250 μg of tetracosactide: 19 mg/dL). Abdominal CT and MIBG scintigraphy had no evidence of persistent disease. A genetic test was requested and no germline mutations were detected in the following genes: RET, VHL, SDHAF2, SDHB, SDHC, SDHD, MAX, and TMEM127. |
pmc-6451804-1 | Our patient was an 80-year-old female with a history of chronic adrenal insufficiency on oral prednisone. She suffered a left-sided intertrochanteric hip fracture and underwent a surgical implantation of a cephalomedullary nail to stabilize the femoral neck. Over the next two weeks, she developed continuous drainage from the surgical incision. On presentation to the hospital, she had ecchymoses on her left flank and serosanguinous drainage from her left hip incision. She was afebrile on admission but had an elevated white blood cell count of 29 × 109/L. An ultrasound of the hip and groin region showed a hematoma and a large left groin pseudoaneurysm from the profunda femoral artery, which was confirmed by a CT angiogram. The patient underwent coil embolization of the pseudoaneurysm and surgical wound debridement.
There were multiple positive culture results for K. schroeteri on hip tissue/peri-joint tissue sent intraoperatively; and the treating infectious disease team with orthopedic infectious disease speciality focus felt this was real and constituted a prosthetic joint infection, warranting full treatment and suppression. This strain was resistant to penicillin but susceptible to clindamycin and vancomycin by Mueller–Hinton agar dilution.
The patient was discharged to a care facility and received four weeks of daptomycin. This medication was chosen for out-of-hospital convenience of administration, owing to the once-a-day dosing. She recovered complete mobility of the joint and had no further complications in her course. |
pmc-6451811-1 | A 50-year-old Japanese man with a two-year history of a painless right scrotal mass visited our hospital. He was previously healthy and did not take any medications. His scrotal mass was elastic and hard and had no translucency. We palpated normal testis and epididymis in the contralateral scrotum.
We ordered blood laboratory examination and computed tomography (CT). Laboratory data were largely unremarkable and testicular tumor markers were not elevated (alpha-fetoprotein (AFP): 2.9 ng/mL; beta human chorionic gonadotropin (hCG): <0.1 ng/mL). CT revealed a testicular tumor with cystic structure in the right scrotum. The wall of the cystic structure was thickened and enhanced with contrast medium. The tumor size was 48 x 48 x 42 mm (). Considering clinical and radiological findings, his scrotum mass was considered to be an uncharacteristic testicular tumor. CT showed no metastasis to lymph nodes or other organs.
Emergent high radical orchiectomy was performed. The operation time was 36 minutes and there was minimal bleeding. The resected tumor was cystic and filled with the brown pus-like fluid. He was discharged from our hospital on the second postoperative day.
The specimen was submitted for pathological examination. Hematoxylin-eosin staining revealed SCC developing from the cyst in the parenchyma of the testis (). The neoplasm contained a cancer pearl and was consistent with typical SCC (). The cyst did not have cutaneous appendages, bone, or cartilage; therefore, it was considered to be a simple epidermal cyst, not a dermoid cyst or teratoma. Intraepithelial carcinoma was present in the epidermal cyst. As a result, the tumor was considered a primary lesion, not a metastasis. An area of normal testicular parenchyma remained. The final diagnosis was SCC developing from a testicular epidermal cyst.
After discharge, he was followed up with CT and tumor marker (SCC). At six months after operation, SCC was within the normal range (1.1 ng/mL) and CT showed neither recurrence nor metastasis. |
pmc-6451813-1 | The patient was a 46-year-old Hispanic male who presented with a six-month history of productive cough and pleuritic chest pain associated with intermittent episodes of fevers and chills. Approximately three months into his symptoms, the patient began to experience dysphagia and subsequent decreased appetite. His dysphagia progressed from solids to liquids. He denied having trouble breathing. The patient reported an unintentional 40-pound weight loss over the three-month period following the onset of his dysphagia. His vital signs were within normal limits, and the patient appeared his stated age. The physical exam was remarkable for cachexia.
Initial lab work was unremarkable. Initial chest X-ray revealed a prominent right upper lobe cavitary lesion (). Further workup was obtained with a CT chest, which showed “tree-in-bud” opacities in bilateral lung fields, along with “thick walled” cysts of the right upper lobe (). This was reported to be suggestive of TB versus fungal infection. Additionally, the imaging revealed mediastinal lymphadenopathy. Sputum acid-fast bacilli (AFBs) were collected, and the patient started treatment with rifampin, isoniazid, pyrazinamide, and ethambutol (commonly referred to as RIPE therapy), prior to sputum acid-fast bacilli cultures returning positive [].
To determine the etiology of the dysphagia, the patient underwent a swallow evaluation which revealed combined oral and pharyngeal dysphagia. Follow-up studies with an esophagogastroduodenoscopy () and bronchoscopy () revealed bronchoesophageal fistulas, which were presumed to be a result of MTB infection. Given his inability to tolerate oral nutrition, a percutaneous endoscopic gastrostomy (PEG) tube was placed for nutritional purposes. Once he was able to tolerate PEG tube feeds, he was discharged home on RIPE therapy and given a follow-up appointment in an infectious disease clinic. At a three-month follow-up appointment on RIPE therapy, the patient was able to tolerate oral nutrition. He was reevaluated with a bronchoscopy (), which showed interval healing of the bronchoesophageal fistulas. Since the patient was tolerating a regular diet, the PEG tube was scheduled to be removed three months after it was placed. The patient followed up at nine months in the clinic. At that time, he reported no symptoms. He completed a nine-month course of RIPE therapy with no further complications. |
pmc-6451814-1 | A boy who was 13 years old presented to the emergency room with pain and difficulty in walking after a break (sudden deceleration) during a football match. The patient's height and weight were 1.62 m and 59 kg, respectively. Physical examination indicated pain when trying to fully extend either knees, bilateral pain on palpation, swelling over the anterior tibial tuberosity, joint effusion, and inability to walk. Ligament manoeuvres were negative (bilateral Lachman test). This patient has a previous history of Osgood–Schlatter disease in both knees. He suffered from anterior knee pain the year before. This pain forced him to stop sport activities and to undergo different treatments. He was treated with resting from contact-sport activities, physical therapy, and as a last resort, some injections (he was treated in a different hospital, and the patient cannot specify which drug was administered). Anteroposterior and lateral radiographs of both knees evidenced a bilateral tibial tuberosity avulsion fracture (). The fractures of both knees were classified as Ogden type IIIA in the left knee and type IB in the right knee. Surgical treatment was proposed (open reduction and internal fixation with screws), and the patient underwent surgery 24 hours after the trauma. Under spinal anesthesia and in a supine position, an anterior approach was performed in both knees. Intravenous tranexamic acid was used in this case to avoid the use of bilateral tourniquet. After dissection and haematoma drainage, we cleaned the fracture site and reduced the distal fragment fracture under radiological control (). The left knee (Ogden type IIIA) was internally fixed with 2 cannulated screws of 4.5 mm with a washer (Asniss III, Stryker, Selzach, Switzerland). The right one (type IB) was fixed with one cannulated screw and a washer. We reinforce fixation of both patellar tendons with one suture anchor (Iconix 2.3 mm, Stryker, Mahwah, NJ, USA) ().
On the basis of the patient's weight, type of fracture, and bilateral occurrence, immobilization was indicated for 3 weeks using a bilateral knee brace. Physical therapy was started with passive range of motion (ROM) exercises, and after a 3-week-period, loading and quadriceps strengthening exercises were allowed. At 8 weeks, full loading and active ROM exercises were performed. At 12 weeks after surgery, the patient had already achieved full ROM (0°-140°) and regained bilateral knee extension strength.
Approximately 20 weeks after the surgery, the patient was able to perform physical activities without limitations at the same level as before the injury. Return to play was allowed at 6 months postoperative. A nonsymptomatic hypertrophic scar was developed, but the patient has no limitations during sport activities. By now, there has been no need for hardware removal (). |
pmc-6452327-1 | A 51-year-old male with a permanent IVC filter that had been inserted approximately 20 years ago when the patient developed a DVT during a hospitalization for severe non-ischaemic cardiomyopathy, was transferred to our medical intensive care unit for shock and acute renal failure. Following the IVC insertion, he had been treated with warfarin for one year and had been on anti-platelet therapy since.
He had been admitted to the hospital three days prior to transfer after presenting with progressive bilateral lower extremity pain and decreased sensation in his gluteal region. Acute bilateral DVTs involving the common femoral and popliteal veins were diagnosed. Over 48 h, despite receiving unfractionated heparin, he developed anuric renal failure and shock. Placement of a right internal jugular dialysis catheter was complicated by airway compromise due to a retropharyngeal haematoma necessitating endotracheal intubation. The heparin infusion was discontinued and the patient was transferred to our hospital.
On arrival, his mean arterial pressure was 71 (104/53) mmHg while on norepinephrine, vasopressin, and phenylephrine. Arterial blood gas analysis showed a pH of 7.06, partial pressure of carbon dioxide (PaCO2) of 28 mmHg, partial pressure of oxygen (PaO2) of 312 mmHg, and a lactate of 16 mmol/L. The platelet count was 31 K/μL. Examination was notable for tense bilateral lower extremity oedema. Dorsalis pedis pulses were detectable with Doppler ultrasound. An abdominal computed tomography (CT) showed dilation of the distal IVC suggesting thrombosis (Fig. A). Transthoracic echocardiography showed a 25% ejection fraction with no right ventricular dilation or strain. The IVC was collapsible proximal to the hepatic veins. Lower extremity ultrasound confirmed acute bilateral DVTs involving the external iliac and femoral veins. Laboratory evaluations excluded thrombophilia, heparin-induced thrombocytopenia and thrombotic thrombocytopenic purpura. Infusion of 5 L of isotonic fluid and continuous renal replacement therapy led to a reduction in the vasopressor requirement, a reduction in lactate to 2.0 mmol/L, and pH/PaCO2 normalization. However, the lower extremity oedema progressed with development of bullae and purple skin discolouration (Fig. B). Dorsalis pedis pulses became undetectable, consistent with compartment syndrome due to PCD.
Catheter-directed thrombolysis, surgical thrombectomy, and fasciotomy were deemed to be contraindicated due to ongoing shock, severe cardiomyopathy, the retropharyngeal haematoma, and persistent thrombocytopenia thought to be the consequence of platelet consumption. Unfractionated heparin was restarted and, within 24 h, lower extremity pulses were again palpable. However, there was a progressive rise in creatinine phosphokinase to 44,000 IU/L and an increase in lactate to 5.8 mmol/L despite continued vasopressor support and continuous dialysis. His family decided to pursue palliation and withdrawal of life-supportive measures. Post-mortem examination confirmed an occluding thrombus at the level of the IVC filter with extension to the internal and external iliac veins (Fig A, B). The autopsy did not identify an underlying malignancy. |
pmc-6452425-1 | A 20-year-old female, with NF type 1, presented with sudden onset of headache,
vomiting, and altered behaviour for 4 days. She had begun to act in a disinhibited
manner and was using offensive language towards her family members. She also had
urinary incontinence. Headache was severe and continuous.
On examination, the patient had multiple neurofibromata, café au lait spots and Leish
nodules of the iris. There was no family history of NF. There were no features of
meningism or any focal neurological signs. We were unable to assess her memory,
higher functions and frontal lobe functions properly on admission due to her
behaviour.
Full blood count, liver function tests, renal function tests, thyroid function tests
and inflammatory markers were normal. Noncontrast computed tomography (NCCT) scan of
the brain, done on admission (4 days after the onset of headache), revealed
hypodense areas in both frontal lobes. Subsequent cerebrospinal fluid (CSF) analysis
was normal with the absence of cells and normal protein and sugar levels. Magnetic
resonance imaging (MRI) with magnetic resonance venogram/magnetic resonance
angiogram (MRV/MRA) (10 days after the onset of headache) concluded bilateral
frontal lobe infarcts () with restriction in diffusion-weighted imaging (DWI) () along with
possible narrowing at the origins of anterior cerebral arteries (ACA) and suggesting
spasms of bilateral ACA. A recent bleed at the anterior communicating artery (AComA)
was also evident in MRI () and susceptibility weighted imaging (SWI) (). Small aneurysm was also seen at
the left MCA. She was then subjected to digital subtraction angiogram (DSA) (24 days
after the onset of headache), which revealed a possible ruptured aneurysm of AComA
(). Furthermore,
a left-sided MCA saccular aneurysm (3.2 mm × 2 mm) was also detected (). Neurosurgical
opinion was to manage conservatively because of lack of facilities for intervention.
The two-dimensional (2D) echo and the rest of the aortic and renal angiograms were
normal.
Her altered personality persisted for 4 weeks and then gradually improved to normal.
Her memory was intact and speech, motor functions and urinary continence were normal
after 4 weeks. |
pmc-6452445-1 | A 38-year-old woman, gravid 0, underwent freeze-thaw embryo transfer due to a male sterility complication. She became pregnant and had no complications other than a 4-cm diameter fibroid in the anterior wall of the uterus. Her pregnancy progressed uneventfully though posterior wall low-lying placentation, but not placenta previa was noted. She underwent routine examinations at 33 weeks of gestation, and transvaginal ultrasonography revealed abnormal blood flow at the cervical region. She underwent MRI (Figure ), which also revealed abnormal findings. She was estimated to have a high risk of massive obstetric hemorrhage though a precise diagnosis could not be obtained. She was transferred to the maternal-fetal intensive care unit in our hospital.
Radiologists in our hospital interpreted the MRI as either invasive placentation into the cervix or cervical vascular anomalies, though they had never seen images like these. An expert opinion of the transvaginal ultrasonography finding (Figure ) was as follows. The cervix was open. Placental parenchyma was low lying but not covering the internal os. The placental marginal sinus seemed to descend through the opened cervix to the external os. Vessels at the posterior cervix wall were enlarged, and no direct connection was found between the vessels and the descended marginal sinus.
The woman and her family consented to Cesarean hysterectomy if necessary. Late preterm cesarean delivery was performed at 36 weeks and 2 days of gestation to avoid emergent cesarean hysterectomy in case of invasive placentation with massive bleeding. A male neonate weighing 2774 g was delivered. Apgar scores were 7 (1 minutes) and 9 (5 minutes), and umbilical artery pH was 7.340. The placenta did not separate naturally 15 minutes after birth. Hysterectomy was conducted without manual removal of the placenta. Operating time was 2 hours 3 minutes and total blood loss amounted to 1412 g. The patient recovered smoothly after surgery.
In examining the removed uterus, the placenta was low-lying but placenta previa was not present. The cervix was normal in appearance. Most of the placenta could be easily separated. Pathological examination revealed an adherent placenta in a small portion of the lower posterior uterine corpus wall without placental invasion. We concluded that the marginal sinus of the placenta descended through the cervix to the external os like funneling of the amniotic membrane in cases of threatened preterm delivery. |
pmc-6452454-1 | A 34-year-old African American male with no significant past medical history noticed a lesion in his anal area. This lesion continued to increase in size gradually over seven years and was occasionally tender. He sought medical attention seven years later. At that time, he was diagnosed with anal Condyloma and was referred to surgery. He had a staged surgical resection of his anal condyloma as tumor size was large. Pathologic picture was consistent with giant condyloma acuminata (GCA), also known as Buschke-Löwenstein tumor (Figure ).
Six months after the resection, the lesion grew again in size and patient required further resection. At that time, the lesion had progressed very close to the anal sphincter, and patient was referred to a colorectal surgeon. He was lost to follow-up for 18 months but eventually presented again with a perirectal abscess and tumor progression (Figure and ). The abscess was surgically drained. A repeat biopsy done at that time revealed well-differentiated squamous cell carcinoma with underlying chronically inflamed stroma and foci where the basement membrane is not clearly seen concerning for superficial invasion. The pathological picture was consistent with verrucous carcinoma (Figure ). The patient was treated with concurrent chemotherapy and radiation. The chemotherapy regimen used was fluorouracil and cisplatin. He was not compliant to treatment. He achieved a partial response and had no progression for 2 years. Upon disease progression, he elected to go for hospice and expired secondary to local progression and subsequent infection. |
pmc-6452457-1 | A 40-year-old woman (gravida, 2; parity, 1) was referred to our hospital at 23 weeks and 2 days of gestation due to placenta previa and severe FGR. Her previous delivery was a normal vaginal delivery with manual removal of the placenta. An ultrasound examination showed no fetal anomaly, however, the estimated fetal body weight (EFBW) was 258 g (−3.7 SD), severe FGR was observed, and both placenta previa and enlargement of the placenta (8 × 9 × 7 cm) were confirmed. The umbilical cord was inserted into the center of the placenta, and the umbilical artery end-diastolic flow velocity was normal (Figure ). Blood sample results revealed the following: Hb, 12.4 g/dL (normal range: 11.6-4.8 g/dL); platelet count, 99 000/μL (158 000-348 000/µL); APTT, 27 seconds (24.5-38.7 seconds); PT-INR, 0.88 (0.90-1.10); D-dimer levels, 0.9 µg/L (≦1.0 µg/L). The thrombocytopenia was diagnosed as gestational thrombocytopenia and not idiopathic thrombocytopenic purpura (ITP) by the hematologist. The patient was not taking aspirin or any other anticoagulants and did not have thrombophilia, such as antiphospholipid syndrome (APS), protein S deficiency, or protein C deficiency. The condition was diagnosed as idiopathic placentomegaly with severe FGR. Pelvic MRI at 24 weeks and 3 days of gestation revealed that the placenta showed internal heterogeneity and enlargement. Furthermore, placenta previa and a fluid-fluid level on the fetal side of the placenta with no blood flow were identified (Figure ). Ultrasound examination at 24 weeks and 4 days of gestation confirmed the presence of an MSH in a clear fluid-fluid level forming on the side of the fetus in the placenta, 2.8 × 7.4 cm in size, with no blood flow by color Doppler sonography (Figure ). At 25 weeks and 3 days of gestation, the EFBW was 410 g. Color Doppler sonography showed absent end-diastolic flow velocity and indicated that termination of the pregnancy would soon be required; therefore, betamethasone was administered to accelerate fetal lung maturation. At 26 weeks and 6 days of gestation, strong uterine contractions and genital bleeding led to suspicion of placental abruption, and thus, an emergency cesarean delivery was performed. The placenta was 12.0 × 9.0 × 1.5 cm in size and weighed 153 g, and a hematoma of 8.0 × 6.0 cm in size was macroscopically identified in the subchorionic region and confirmed by histological examination. The maternal side of the placenta was normal. MSH was confirmed by postpartum histological findings. A male infant weighing 486 g (−3.3 SD) was delivered with Apgar scores of 2 and 5 at 1 and 5 minutes, respectively. He was admitted to the neonatal intensive care unit (NICU). He died nine days postpartum due to respiratory and heart failure. The mother's postoperative course was uneventful, and she was discharged in good health on the 6th postpartum day. |
pmc-6452458-1 | A pleasant 54-year-old white female was referred to the resident clinic to establish care by her previous primary care physician (PCP). The patient has well-refined makeup, since the beginning of our encounter, she had to clean the tears mixed with sticky secretion every a few minutes with a napkin, she emphasized she was not crying but has been suffering from severe sinusitis and conjunctivitis in the past 6 months, she has been following up with ENT for recurrent sinusitis and on allergy shot, in addition to this acute distress, she has also been following up with her previous PCP for chronic joints pain associated with fibromyalgia. She also self-reports her problems are all because of EDS, but she denies previous clinical or genetic diagnosis of any type of EDS. In addition to medical distresses, she recently lost her job which has made her unemployed for the first time in her life, the next day she also lost her health insurance because of which she has been trying to find another PCP in the past a few months. Review of system was positive for watery eyes, multiple joints pain involving ankles, knees, hips, lower back, shoulder, and neck. Negative for fever, chills, cough, short of breath, syncope/near-syncope episodes, chest discomfort, palpitations, or abdominal discomfort. Her medication list includes vitamin D, vitamin B12, vitamin C, iron tablet, duloxetine 20 mg daily, oxycodone/acetaminophen 10 mg/325 mg q6h prn, tramadol 50 mg bid, and trazodone 50 mg at bedtime. Past medical history includes fibromyalgia and chronic joint pain, denies history of joint subluxations or dislocations. Surgical history is unremarkable. Family history: father and one sister were diagnosed with EDS (unknown type). She currently smokes daily due to stress, not alcoholic, denies any drug abuse.
Temperature 36.5°C, blood pressure 127/77 mm Hg, pulse 91 bmp, respiratory rate 18 bpm, O2 saturation 98% on room air, weight 52.2 kg, height 155 cm and calculated BMI 21.7. On detailed physical examination, several abnormalities were identified. She has atrophic scar no her nose which is from a dog bite many years ago, mild to moderate midfacial hypoplasia and micrognathia. Skin hyperextensibility is presented on bilateral elbows, forearms, and hands. Sagging and doughy skin folds were presented on bilateral knees. The musculoskeletal examination revealed normal strength in all extremities, with pain to palpation over bilateral ankles/knees/hips, lower back, and back of neck. Joints were examined for hypermobility using the Beighton scale criteria (Figure ). The patient scored a 5/9: bilateral fifth digit passively extended to 90°, thumb was opposable to the forearm bilaterally, and bilateral elbow extension past 10°. She was able to easily palm the floor without bending her knees. Foot deformities include pes planus, pes vulgus, and hallux varus (Figure ).
CBC with differential, BMP, thyroid function, and liver function panel are in normal range, HbA1c 5.5%, vitamin B12, and folate levels are in normal range, and vitamin D level was 37 ng/mL (30-80), lipid panel: cholesterol 213 mg/mL, triglycerides 159 mg/mL, VLDL 32 mg/mL, and LDL 130 mg/dL, rheumatology markers include ANA and ESR are negative. 12-lead EKG showed normal sinus rhythm, heart rate 92 bpm, normal axis, normal intervals, and no chronic or new ischemic changes.
Clinical diagnosis of Ehlers-Danlos Hypermobile type was made. A cardiac ECHO was then ordered to rule out valvular and vascular disorders. Gabapentin 100 mg PO tid was added, patient has now established care with pain management clinic, ophthalmology, and physical therapy. We also referred patient back to her previous ENT physician to get retested for possible development of new allergens. She is currently receiving a new course of allergy shots together with eye drops prescribed by ophthalmologist. Her immunoglobulin levels turned out to be low with IgG at 600 mg/dL (ref. 694-1618). Patient was then referred to hematology and is currently been treated with monthly IVIG supplementation. In the follow-up appointment, patient’s conjunctivitis and joints pain have been much better controlled, her repeat IgG level was 917 mg/dL, and she feels comfortable to look for new job. |
pmc-6452461-1 | A 33-year-old woman referred to an orthodontist due to mandibular anterior crowding. While assessing her panoramic radiography (Figure ), her dentist found a unilocular radiolucent lesion with a well-defined sclerotic lesion that extended from the left mandibular canine to the right canine. She did not have a medical history of the disease. Intraoral and extraoral examinations were normal, and there were no expansion and pain in the palpation region. All mandibular anterior teeth were checked through electrical pulp testing, all of which were vital. The patient was referred to a maxillofacial surgeon for further evaluation. Cone beam computed tomography (CBCT) was requested for the patient. The radiographic examination showed a regular lesion border without any expansion in the buccal and lingual plates, root resorption, or root displacement (Figure ). The lesion was biopsied. First, bilateral mental nerve block anesthesia was performed. Then, the envelope flap was raised between the first premolars and the bone was removed by a surgical bur. Next, the lesion was curetted and sent to a pathology center (Figure ). The histopathological assessment showed a mature adipocyte with an area of hemorrhage but no atypical fat cell. Hence, it was found to be an IOL (Figure ). In the follow-up visits, there were no complications or recurrence, and the defect was healed properly. |
pmc-6452461-2 | A 25-year-old woman referred to a maxillofacial department. Her chief complaint was painless swelling in the buccal mucosa for about 2 years, which interfered with her dental occlusion. The lesion was about 1.5 cm and mainly soft on palpation (Figure ). Excisional biopsy was done under local anesthesia. The incision was about 2 cm and was inferior and parallel to the Stensen's duct (Figure ). The lesion was capsulated and completely dissected. The laboratory examination revealed an adipose tissue and a thin capsule surrounding the lesion and pathologic diagnosis showed an intraoral fibrolipoma (Figure ). There were no complications during and after the surgery and no sign of recurrence after 12 months. |
pmc-6452465-1 | A 77-year-old male suffering from Alzheimer's disease presented with a persistent erythematous lesion of several years’ duration on the glans penis. On physical examination, an asymptomatic, sharply demarcated, erythematous, partially erosive plaque was observed on the glans penis (Figure ). A penile biopsy showed a carcinoma in situ (EQ) (Figure ). Polymerase chain reaction (PCR) analysis with DNA extract of the skin biopsy specimen demonstrated human papillomavirus (HPV16) DNA. The patient showed no clinical or laboratory signs of immunodeficiency; no metastases were detected by chest and abdominal computed tomography (CT) scan.
The whole glans was treated three times a week for 16 weeks with IQ 5% cream in accordance with a standard regimen for genital warts. With the treatment, the lesion was substantially decreased but small erosion was remained (Figure A). The erosive lesion gradually became smaller, but not completely disappeared (Figure B). Therefore, after a 7-week interval, we again applied IQ for 12 weeks and the lesion was clinically disappeared. Five weeks later, however, small erosion was relapsed and another course of IQ application was performed for 5 weeks until the erosion was disappeared (Figure C).
During the courses of the treatment, the patient experienced a moderate burning sensation at the applied area, otherwise he tolerated the procedure well. The patient is now carefully followed up to survey the relapse. To date, 21 weeks after completion of the imiquimod therapy, patient is relapse free. |
pmc-6452466-1 | A 48-year-old female with history of end-stage renal disease secondary to diabetic nephropathy presented with nausea, vomiting, fever, and abdominal pain for two-day duration. Patient has been on automated peritoneal dialysis for 2 years and never had an episode of peritonitis. Patient lives in a ranch home and takes care of cattle. Other medical problems include the following: hypertension, diabetes, anemia of chronic disease, and coronary artery disease. Patient had low-grade fever and her other vital signs were stable. Physical examination revealed diffuse abdominal tenderness and no drainage from exit site. No tenderness was elicited along the tunnel of peritoneal dialysis catheter. Peritoneal dialysis effluent showed elevated WBC with cell count of 2200 cells/μL (with 96% neutrophils). Gram stain revealed >100 WBC, and no organisms seen. Patient received empirical treatment with intraperitoneal Vancomycin and Ceftazidime. Effluent grew gram-negative bacilli, which was identified as L adecarboxylata by VITEK mass spectrometry using Matrix Assisted Laser Desorption Ionization Time-of-Flight (MALDI-TOF) technology. The organism was reported to be pan sensitive to antibiotics. Intraperitoneal antibiotic therapy was narrowed to Cefazolin, which was continued for 3 weeks. Posttreatment peritoneal dialysis effluent was clear, with WBC count of 2 cells/μL and repeat fluid culture was negative. |
pmc-6452467-1 | A 58-year-old woman who was diagnosed with sarcoidosis eleven years prior was referred for the exacerbation of mediastinal lymph node enlargement, consolidation and multiple nodules on high-resolution computed tomography (HRCT) eight years ago (Figure A). Pulmonary function was normal, and no subjective symptoms were noted; thus, the patient was followed up without medication. However, dyspnea developed gradually, and HRCT showed a crazy-paving appearance in the right lower lobe (Figure B). Fine crackles were audible over the posterior right lung. Laboratory data revealed that KL-6 levels increased to 630 U/mL and SP-D levels to 255 ng/mL; however, the ACE level remained the same at 23.1 IU/L. Complications such as cardiac sarcoidosis occurred if sarcoidosis was exacerbated; thus, positron emission tomography (PET-CT) was performed. However, no new lesions were found. The condition of pulmonary sarcoidosis did not become worse. Pulmonary function tests showed a restrictive ventilatory impairment (FVC 1.87 L, %FVC 62.3% predicted) and reduced diffusing capacity of the lung for carbon monoxide (DLCO 9.36 mL/min/mm Hg, %DLCO 55.5% predicted). The bronchoalveolar lavage fluid (BALF) was yellow with a lymphocyte fraction of 96.8% (Figure ). Microscopic examination from transbronchial lung biopsies only found a tiny granuloma consistent with sarcoidosis. The crazy-paving appearance did not improve after one month. A video-assisted thoracoscopic lung biopsy was performed from right S6 and S8 to confirm the diagnosis. Observation under thoracoscopy revealed that the surface of the right lower lobe was yellow and swollen by the liquid stored in the alveoli (Figure ). Histopathologic examinations revealed many perilymphatic noncaseating granulomas in both S6 and S8. In S8, the alveolar cavity was filled with a granular substance, periodic acid-Schiff (PAS) staining was weakly positive, surfactant protein A (SP-A) staining was positive and lipoid clefts were also seen. Foamy macrophages that seemed to phagocytize the granules were positive for both PAS staining and SP-A staining (Figure ). The sample was positive for anti-GM-CSF antibodies (4.8 μg/mL, cut-off value is 1.0 μg/mL), and the patient was diagnosed with aPAP. Steroid administration was planned if the cause of the crazy-paving appearance was the exacerbation of sarcoidosis, but we decided to follow her up because the diagnosis was aPAP. After four months, the crazy-paving appearance went into spontaneous remission (Figure C). The laboratory data revealed that KL-6 and SP-D levels were 438 U/mL and 73.5 ng/mL, respectively, and pulmonary function tests showed the following improved values: FVC 2.03 L, %FVC 71.2% predicted, DLCO 11.46 mL/min/mm Hg and %DLCO 66.6% predicted. |
pmc-6452469-1 | A 74-year-old female was admitted with a three week history of diarrhea, abdominal pain, and associated acute weight loss of 10 kg.
The patient had a known diagnosis of non-squamous non-small cell lung cancer, anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR) mutation negative, PD-1 status unknown, with distal metastases to both brain and bone. Initial treatment had been initiated with four cycles of Cisplatin/Pemetrexed, with subsequent maintenance therapy of Pemetrexed. Due to disease progression, second line treatment in the form of Nivolumab was instigated. Four cycles of Nivolumab were completed, but was unfortunately discontinued due to further disease progression.
Three weeks after discontinuing Nivolumab the patient reported frequent diarrhea. They complained of diarrhea around seven times per day; with night rising, associated abdominal pain, poor appetite, and weight loss. Laboratory tests on admission found a hemoglobin, white cell, and platelet count within the normal range, an albumin of 30 g/L (35-50 g/L), a CRP of 11 mg/L (0-10 mg/L), and normal thyroid function.
Microbiological testing included stool cultures (including Clostridium Difficile), CMV DNA PCR and adenovirus DNA PCR, all of which were negative. A computed tomography (CT) scan demonstrated no abnormality of the bowel or vasculature, no significant abdominal lymphadenopathy and no pathological findings within the pelvis.
Colonoscopy showed generalized erythematous, friable, and edematous mucosa, with the colon and ileal mucosa looking evenly affected with edema and blurring of the normal vascular pattern (Figure ).
Biopsies from the cecum, descending colon, sigmoid colon, and rectum showed diffuse chronic active inflammation. In the more proximal biopsies, there was also focally increased subepithelial collagen membrane thickness with associated degenerative change of surface epithelium (Figure ). Colonic crypts demonstrated regenerative change but with normal architecture and increased apoptosis (Figure ). Based on these findings and in the absence of any confounding infective pathogen being identified, a diagnosis of Nivolumab-induced immune-mediated colitis was suggested. |
pmc-6452470-1 | A 58-year-old man with high-grade B lymphoma received treatment with cyclophosphamide and rituximab, and triple intrathecal therapy (MTX, Ara-C, and dexamethasone) as CNS prophylaxis. He received three doses of MTX-it, with a total dose of 36 mg in three non-consecutive days. Ten days after the last lumbar puncture, he complained with lower limb weakness, which evolved into paraplegia and urinary retention. Neurological examination revealed absence of deep tendon reflexes in lower limbs and a sensory level at T1. Cerebrospinal fluid (CSF) parameters were within normal limits. Nerve conduction studies (NCS) and electromyography (EMG) performed 1 week after neurological onset showed the absence of the F wave in both lower limbs with a minimal amplitude decrease and normal latency in CMAP responses suggesting a lumbosacral polyradiculoneuropathy. No abnormalities were found in upper limbs (see Table and Figure A,B). Lumbosacral magnetic resonance imaging (MRI) with gadolinium revealed no abnormalities. MTX-it treatment was stopped and the patient was empirically treated with intravenous methylprednisolone without improvement. One week later NCS and EMG studies showed a dramatic decrease of motor amplitudes with relatively normal latencies in peroneal and tibial posterior nerves of both sides (<1 mV) and moderate denervation in proximal and distal muscles of lower limbs (see Table ). Thoracic spinal cord MRI revealed no abnormalities 2 months from onset. No improvement was observed after 6 months of physiotherapy and he remained with flaccid paraplegia and sensory level. |
pmc-6452470-2 | A 26-year-old woman previously diagnosed with acute lymphocytic leukemia in 2017 was treated with dexamethasone, vincristine, MTX, and PEG-asparaginase as consolidation therapy and MTX-it plus dexamethasone for CNS prophylaxis. She received five doses of MTX-it (total dose of 60 mg) over 5 months. Eight days after the last MTX-it injection, she developed urinary retention followed by lower limbs weakness which progressed to severe flaccid paraplegia and areflexia. CSF study revealed high protein concentration (96.4 mg/dL), with normal cell count. NCS and EMG studies at onset (10 days) and follow-up (22 and 90 days) suggested a motor lumbosacral polyradiculoneuropathy (see Table ). Lumbosacral MRI demonstrated gadolinium enhancement of the anterior roots of the cauda equina at onset (see Figure C) and atrophy of dorsal columns and conus medullaris at follow-up (90 days). MTX-it was stopped but the patient showed no clinical improvement. After 6 months of physiotherapy, she persisted with flaccid paraplegia and EMG showed severe denervation of lower limb muscles. |
pmc-6452472-1 | A 67-year-old man presented himself in our emergency department after having several episodes of hematemesis and melena associated with chest pain over the previous 24 hours. The patient had a known history of gastric ulcer developed 20 years before without any other comorbidities except for class II obesity (BMI 36.68 kg/m2). Electrocardiogram (ECG) and serum troponin levels excluded an ischemic cardiac event, but the results for complete blood cell counts and hemocoagulation revealed a hemoglobin value of 9.6 g/dL. Two days before, the patient had undergone an esophagogastroduodenoscopy (OGD; Figure ) for a recurrent digestive discomfort after eating, and he was found to have a 30-mm submucosal lesion in the posterior wall of the greater curvature at the gastric fundus that was biopsied. The following OGD performed in urgency identified the origin of bleeding at the biopsy site; a temporary hemostasis was attempted using epinephrine injection therapy. In addition, an abdominopelvic computed tomography (CT) with enhanced scans was performed to check for any further bleeding, with negative result (Figure ). Nevertheless, 12 hours following endoscopy the patient had another melena accompanied by an episode of loss of consciousness; the hemoglobin level was 6.9 g/dL. Based on the recurrence of the gastric bleeding, the patient was prepared for surgery.
Diagnostic laparoscopy was performed to further evaluate the cause of the acute abdomen revealing only distension of the stomach, with no evidence of exophytic lesion, and ruled out signs of distant disease. An intraoperative endoscopy with a standard endoscope (Olympus GIF-Q-165®) was used to aspirate and lavage the stomach as well as confirming the localization of the bleeding lesion in the greater curvature at the gastric fundus. Subsequently, a laparoscopic sleeve gastrectomy (LSG) was carried out. Five trocars have been placed in the upper abdominal quadrants: one 12-mm trocar above the umbilicus in the midline, three 12-mm trocars in right subcostal, subxiphoid, and left subcostal, and one 5-mm trocar in the left anterior axillary line. The gastric resection was performed using a linear stapler (Echelon Flex™ 60 Endopath®) applied alongside a 38-Fr bougie. The next step has been a methylene blue dye test in order to check the sealing of the staple line that was additionally reinforced by nebulization with cyanoacrylate sealant (Glubran 2®) used also to create an adhesion with the greater omentum as a chemical omentoplasty. The surgical gastrectomy specimen (Figure ) was retrieved through the slightly enlarged left subcostal access. A drain was placed at the end of the procedure. The patient was administered 3 units of packed red cells to stabilize his hemoglobin up to 9.7 g/dL. Operative time has been 92 minutes.
The patient's postoperative course was uneventful, except for a left subcostal wound infection which was opened and drained at the bedside and for a E coli urinary tract infection which was successfully treated with antibiotics. The diagnosis of gastric GIST was confirmed on the surgical specimen that showed a polypoid mass with hemorrhagic foci 40 × 35 mm in size; surgical resection margins were negative (R0). The mitotic rate was <1/50 HP; CD34, CD 117/C-kit, and smooth muscle actin were positive; the Ki67-MIB1 immunostaining indicated a low proliferative rate (count rate 4%). The tumor was staged as GIST of gastric origin in the very low-risk category so that a systemic adjuvant chemotherapy was not needed Oral nutrition commenced on postoperative day 6, after a Gastrografin® swallow that confirmed a regular gastric transit and the absence of leaks. The patient was discharged on the 8th postoperative day. At one-month postoperative follow-up, no discomfort on eating or other symptoms were referred; he had lost 15 kg from the day of the operation (BMI 29.41 kg/m2). |
pmc-6452472-2 | A 83-year-old female patient was referred to the intensive care unit (ICU) in emergency state for the acute onset of a respiratory failure accompanied by high-frequency atrial fibrillation (AF). She had a body mass index (BMI) of 29.52 kg/m2 and a past medical history of hypertension, hyperthyroidism, and atrial fibrillation (AF) under treatment with direct oral anticoagulants (DOACs). The patient also had a history of previous surgery represented by a laparotomic left hemicolectomy for a benignant colonic stenosis. She was initially managed with intubation and received mechanical ventilation, and once hemodynamic stability was achieved, her conditions worsened due to unexpected upper gastrointestinal bleeding (UGIB). She was given a blood transfusion of 4 units of red blood cells, but her hemoglobin value continued to stay under 9.0 g/dL. The following OGD showed an ulcerated submucosal lesion of 3 cm at the greater curvature of the gastric fundus (Figure ). Abdominopelvic computed tomography (CT) with enhanced scans revealed the presence of a solid mass with a soft contour enhanced by the intravenous contrast at the gastric fundus 4.5 × 4.5 cm in size (Figure ).
In the management of this acute situation in order to avoid any further delay of surgical intervention, the patient was prepared for an emergency laparoscopy. Four trocars have been placed in the upper abdominal quadrants: one 12-mm trocar above the umbilicus in the midline, two 12-mm trocars in right and left subcostal, and one 5-mm trocar in the right anterior axillary line. The exploration of the abdomen cavity showed the adhesions attributable to the previous lower abdominal surgery as well as the cirrhotic changes of the parenchymal status of the liver. Once the stomach has been exposed, a nodule appeared on its surface near the greater curvature at the fundus. Subsequently, a laparoscopic sleeve gastrectomy (LSG) was carried out. The gastric resection was performed using a linear stapler (Echelon Flex™ 60 Endopath®) applied alongside a 38-Fr bougie. The gastric specimen (Figure ) was extracted through the epigastric access. One Jackson-Pratt drainage tube was positioned on the resected gastric surface. Upper gastrointestinal contrast (Gastrografin®) was performed on the fifth postoperative day. Afterward, the patient was put on a liquid diet and discharged from the intensive care unit on the seventh postoperative day. The histopathology report of the gastric specimen showed a polypoid submucosal mass of 3 cm with smooth margins and a normal overlying mucosa with a central ulceration; there was no margin involvement (R0). Immunohistochemistry indicated positivity for CD34, CD 117/C-kit, and smooth muscle actin; the mitotic count was <5/50 HP, and ki67-MIB1 revealed a low proliferative rate. These findings were compatible with a gastric GIST in the low-risk category.
The postoperative period was uneventful for complications except for the incidental finding of a lump in the patient's right breast The lesion was biopsied, and she was found to have an invasive ductal carcinoma for whom she was referred to the hospital's breast unit after discharge. The patient was discharged on the 15th postoperative day. She was subsequently seen at one month after surgery once resumed a normal diet with no reported symptoms. |
pmc-6452477-1 | We present a case of 62-year-old lady known to have diabetes type 2, dyslipidemia, hypertension, and history of stroke. She presented to the dermatology clinic with erythematous nodule over the right cheek, it has been present for 2 months. The lesion is single occasionally painful, it has recently increased in size gradually over time and then became stable. Physical examination revealed 1 by 0.5 cm translucent nodule over the right cheek (Figure ). A punch biopsy was taken.
The histologic sections reveal nonencapsulated dermal lesion consists of spindle cells have scant cytoplasm, arranged in vague storiform pattern mixed with inflammatory cells including foam cells and lymphocytes (Figure A). The cells are reaching focally to subcutaneous tissue and reach to fat with no evidence of tissue destruction. There are no mitotic figures, cellular atypia, nor necrosis.
The immunohistochemistry shows the expression of factor XIII and CD68 (Figure B). Other immunostains including pan cytokeratin, CD20, CD34, ALK, CD30, S100, and HMB45 are negative. These findings confirm the diagnosis of benign fibrous histiocytoma (dermatofibroma) and exclude the clinical impression of basal cell carcinoma, amelanotic melanoma, keratoacanthoma, Merkel cell carcinoma, and sebaceous adenoma. The patient has many comorbidities so her family suggested we don't go further at this point, otherwise, the management was planned as excision of the lesion. |
pmc-6452480-1 | In 2010, a 50-year-old white male was admitted to the Emergency Unit of a tertiary referral center with an acute setting of abdominal pain and with an urge to vomit. His history revealed an obese patient with a body mass index (BMI) of 32 kg/m2 and a waist circumference of 120 cm, who was abstinent from alcohol and had arterial hypertension, diabetes mellitus type 2, and dyslipidemia. He was a full-time employed construction worker and smoked more than 40 cigarettes per day. Later, tests for hepatitis C virus, hepatitis B virus, aflatoxin B1, autoimmune hepatitis, hereditary hemochromatosis, Wilson disease, primary biliary cirrhosis, and alpha-1 antitrypsin deficiency were all negative., The tumor marker alpha-fetoprotein (AFP) was elevated at 35.0 IU/mL. There was no history of prior trauma.
On admission, the patient was pale and normotensive (125/70 mm Hg) and his heart rate was of 90 bpm. A clinical examination showed tenderness on abdominal palpation, which was dominant on the right side. Laboratory results revealed decreased levels of hemoglobin (87 g/L) and hematocrit (0.25). Liver function tests were within the normal range (prothrombin activity of 86%, bilirubin level of 5 μmol/L) or slightly impaired (albumin level of 28 g/L). Ultrasound sonography (US) showed free fluid in the abdominal cavity and a liver tumor in the right hemiliver. A computed tomography (CT) scan later revealed active bleeding from a solitary, vascularized HCC of 4.5 cm in diameter. The tumor was present in segment 6 and protruded from the liver surface (Figure ). The volume of free fluid in the abdomen was estimated at 1 L.
The patient's hemodynamic status continued to be stable, and an urgent trans-arterial embolization (TAE) was performed (Figure ). The procedure was successful, and the bleeding stopped. After a brief period of recovery, definitive therapy was considered., , Four days after TAE, the patient underwent an elective anatomical resection of segment 6. The histopathological examination of the resected specimen confirmed grade 2 HCC with a trabecular growth pattern and no vascular invasion. A potentially curative R0 resection was achieved with a 23-mm resection margin. Additionally, the histopathology of the surrounding nontumorous liver tissue (Figure ) showed no signs of cirrhosis. The nonalcoholic fatty liver disease activity score was 5, revealing nonalcoholic steatohepatitis. Staging was completed during recovery and showed no signs of systemic dissemination. The postoperative course was uneventful, and the patient was discharged home on day seven after surgery.
Then, he had regular follow-ups every three months. The possibility of liver transplantation in case of a recurrence was proposed to him, although he declined the therapeutic procedure. Follow-ups during the first two years revealed no signs of tumor recurrence, and the elevated AFP diminished to a reference value. A change in lifestyle was suggested, including weight loss, special diet, and cessation of smoking., He was prescribed therapy for diabetes, arterial hypertension, and dyslipidemia., However, he did not follow through, and the proposal was unsuccessful. In 2013, for unknown reasons, he abandoned surveillance appointments, with the last visit still detecting no signs of a new HCC alongside laboratory and radiology findings.,
In 2016, following a 3-year hiatus from his previous check-up, the patient was again brought to the Emergency Unit with an acute setting of abdominal pain. He was still obese with a BMI of 31 kg/m2 and had all the previously described comorbidities. On examination, he was pale, with a tense, distended abdomen, and a blood pressure of 88/66 mm Hg with a heart rate of 110 bpm. Therefore, aggressive fluid resuscitation was started promptly. Multiple blood tests revealed declining values of hemoglobin (81 g/L) and hematocrit (0.24) with increasing levels of serum creatinine (210 μmol/L) and elevated inflammatory markers, with C-reactive protein (CRP) levels reaching 113 mg/L. A 58% prothrombin activity, bilirubin level of 27 μmol/L, and albumin level of 24 g/L showed impaired liver function.
The abdominal US revealed a large mass in the left hemiliver and a collection of free intraabdominal fluid. CT confirmed active bleeding from a rHCC in the left lateral section alongside a massive hemoperitoneum (Figure ).
To stop the bleeding, an urgent TAE was performed. However, it failed, and the hemodynamically unstable patient was at once transferred to the operating room (OR). During emergency surgery, a midline laparotomy was performed, revealing an actively bleeding tumor in the left hemiliver and free peritoneal blood estimated at 2.5 L. The arterial branch of the left lateral section of the liver was ligated, and the bleeding stopped. A hematoma was evacuated from the abdominal cavity followed by closure of the laparotomy incision.
Following successful hemostasis of the ruptured tumor, the patient was transferred to the intensive care unit (ICU). He received multiple units of blood components to correct his anemia and coagulopathy. Soon after, blood tests revealed worsening of acute renal failure (serum creatinine 477 μmol/L). The following day, renal dialysis was needed, and inflammatory markers (CRP 482 mg/L) were highly elevated. The patient was deteriorating despite intensive care support, and the multiple organ dysfunction syndrome (MODS) was worsening. Imaging was repeated, which exposed an expected extensive necrotic region on the side of a tumor. A definitive surgical procedure had been planned, aiming to remove the tumor and the surrounding necrotic tissue. Emergency liver resection was performed two days after surgical hemostasis with an anatomical left lateral sectionectomy.
Histopathology of the tumor confirmed rHCC once again. This time, the tumor was more massive, with a diameter of 8 cm. Multiple tumor thrombi were present in the segmental branches of the portal vein. The trabecular growth pattern was again described, but this time, the histologic grade was defined as 3. The report of the nontumorous liver parenchyma described a disruption of healthy liver structure, namely, bridging fibrosis. The staging of the disease was completed during the patient's recovery, and pulmonary metastases were revealed. The resection was R0 locally; however, the systemic spread limited therapeutic options.
After a successful surgical procedure, the patient showed straightforward signs of clinical improvement accompanied by encouraging results from the laboratory findings. He was discharged from the hospital twelve days after liver resection, with a new follow-up date. According to the Barcelona clinic liver cancer classification, he was classified as stage C (pulmonary metastases at the time of the second rupture) and was therefore eligible for therapy with sorafenib. A CT scan performed six months later revealed intrahepatic and intraabdominal metastases. However, the patient died from the progression of malignant disease nine months following the second resection and seven years after the potentially curative R0 liver resection of the first rHCC. |
pmc-6452482-1 | A 60-year-old Italian man with severe hemophilia A had received on-demand therapy all his life, since being diagnosed in childhood. He has a target joint (the right knee) and suffers from moderate iron-deficiency anemia due to frequent gum bleeding as the result of an oral cyst and bad oral hygiene. He was diagnosed with HCV in 1993 but had not received treatment for this; see Table .
The provision of dental treatment in patients with severe hemophilia A has often been neglected. In the 1960s, when this patient was a young man, the most common treatment pathway was extraction under general anesthesia followed by provision of dentures. As many general dental practices refuse patients with bleeding disorders, it is unsurprising that many PWH avoid the dentist until their treatment needs become severe and/or acute.
Collaboration between the referral HTC and the dentist enabled a personalized protocol to be developed for this patient who underwent the successful removal of a cyst located in his lower jaw.
In this case, regular discussion with the patient provided a pathway to suggest a new treatment regimen that ultimately provided improved overall patient care. The two key factors in the patient's decision to switch from on-demand to prophylaxis were (a) overcoming his venous access problems through the Patient Support Program and (b) the ability to provide protection with a low infusion frequency due to the longer time-to-trough with BAY 81-8973. The patient now reports high satisfaction with his treatment, his anemia has been corrected (Hb 15 g/dL), he has had no further gum bleeding after his surgery, and there have been no intercurrent bleedings since the start of his prophylaxis. |
pmc-6452483-1 | A 55-year-old Japanese woman was admitted to our hospital with a periodic fever and skin rash (Figure ). She had experienced repeated fevers over 38°C, lasting for 7-10 days, every 14-20 days for 2 months. These had occurred several times a year since she was 50 years old. Arthritis accompanied the febrile attacks. Transient signs of a liver injury were detected when she was 50 years old. Cervical and mediastinal lymphadenopathy was detected when she was 51 years old and both improved spontaneously. Figure shows her skin rash, which was pruritic. At times, she developed various rashes, including urticaria of the arms and legs (Figure A), erythema and swelling of the fingers (Figure B), and a pink rash on her back and a salmon-pink rash on one arm that appeared and disappeared just before admission (Figure C). A skin biopsy was performed, but the findings were nonspecific. She had no family history of periodic fever or autoimmune disease. She was suspected many food allergies, including eggs, flour, milk products, and potatoes, because of her repeated fevers and skin rash. She had been treated with antipyretics and anti-allergy drugs, but not with immunosuppressive therapy.
On admission, she complained of a productive cough for several days, but her temperature was normal and the skin rash had almost disappeared. Her blood cell counts were normal. The aspartate aminotransferase (AST; 79 IU/L), alanine aminotransferase (ALT; 51 IU/L), and lactate dehydrogenase (LDH; 471 IU/L) levels were slightly elevated, while the alkaline phosphatase (ALP; 152 IU/L) and γ-glutamyl transpeptidase (γ-GTP; 24 IU/L) levels were normal. The C-reactive protein (CRP) level was 2.86 mg/dL and the ferritin level was markedly elevated (4731 ng/mL). Screening tests for hepatitis B and C were negative. Serological markers of Epstein-Barr virus indicated a postinfectious state. Antinuclear antibody and rheumatoid factor were negative, while anti-SS-A antibody was positive. Since Schirmer's test was positive, Sjögren's syndrome was diagnosed.
Computed tomography (CT) showed light patchy shadows in both lungs. Bronchopneumonia was diagnosed and treated with intravenous ceftriaxone (CTRX), and the patchy shadows and productive cough improved. Sixty seven Gallium scintigraphy showed no specific findings.
To screen for oral infection, she was referred to a dentist, and no infection was evident. However, her third molar was extracted prophylactically 10 days after admission. About 8 hours after the tooth extraction, she developed a fever over 38°C and a spiking fever of 38-39.5°C that lasted for 6 days (Figure ). Her CRP level increased to 7.26 mg/dL, with pancytopenia and markedly elevated liver enzymes. D-dimer and fibrin degradation product levels were also elevated up to 36.6 and 66.1 µg/mL, respectively. Since sepsis complicated with disseminated intravascular coagulation was considered, the CTRX was switched to meropenem (MEPM) and intravenous heparin was started. Blood cultures were negative and echocardiography did not indicate endocarditis. On the fourth day of her fever, erythema multiform appeared on her upper limbs (Figure D). Since skin rashes, arthralgia lasting more than 2 weeks, lymphadenopathy and elevated liver enzymes were accompanied by high fever, AOSD with macrophage-activation syndrome was considered. Drug fever and antibiotic-related rash due to CTRX were also considered, but the symptoms did not improve immediately after switching to MEPM. On the eighth day after the fever started, her temperature normalized, apparently spontaneously rather than because of any treatment. The rash and laboratory markers also improved gradually. Variant FMF was suspected because of the periodic fever lasting 7-10 days without serositis, and colchicine (0.5 mg/d) was started. Febrile attacks or rashes which had occurred several times a year before taking colchicine did not recur in the following 3 years. Genetic studies revealed a heterogeneous mutation in exon 3 (P369S/R408Q) of the MEFV gene. She fulfilled Tel-Hashomer criteria with two minor criteria as follows; incomplete attacks involving joint and favorable response to colchicine. Atypical FMF (PAAD) was diagnosed. |
pmc-6452484-1 | Written informed consent was obtained to report the case. A 34-year-old G2P1 pregnant woman diagnosed with AS presented at the obstetric outpatient clinic at 18 weeks of gestation. She experienced back pain when she was 25 years old; these symptoms made walking difficult during her first pregnancy at 31 years old. Following her first vaginal delivery, she was able to walk although pain persisted to a lesser degree than during pregnancy. Radiography revealed osteosclerosis of the posterior surface of cervical vertebrae and osteoarthritis of the right hip with joint space narrowing (Figure ). The initial diagnosis of AS was made at 33 years of age.
Pain was managed by the administration of nonsteroidal anti-inflammatory drugs (NSAIDs) and acetaminophen. After the present pregnancy was diagnosed, only acetaminophen continued to be administered, but pain increased during the present pregnancy. She complained of right hip pain, with a visual analog scale (VAS) score of 7/10. A dosage of 5 mg of oral prednisolone was administered daily from 18 weeks of gestation, and thereafter, the symptoms temporarily improved to 0/10 on the VAS. Unfortunately, the symptoms relapsed at 31 weeks of gestation. At 32 weeks of gestation, she complained of restricted neck mobility with difficulty gargling, restricted lumbar mobility that caused difficulties in bending her back, and restricted right hip joint mobility with a limitation of 10º of abduction, which also affected internal and external hip rotation. Peripartum management was discussed and planned by obstetricians and anesthesiologists. Given that only hip abduction and rotation, but not flexion, were limited, it was considered that an attempt of vaginal delivery would be possible when spontaneous labor occurred. However, if an emergency cesarean section (CS) was necessary during labor owing to other obstetric complications such as nonreassuring fetal status, special anesthesia management may be required because of the possible failure of spinal anesthesia due to calcified spinal ligaments and difficult tracheal intubation and airway management for general anesthesia. In such cases, the preparation of awake fiberoptic intubation or supraglottic airway device insertion should be considered.
At 38 weeks of gestation, the patient was admitted to our hospital because of membrane rupture. Labor analgesia was not provided. Oxytocin administration was required due to prolonged second stage of labor. Vacuum delivery with episiotomy left of the midline, which was opposite to the restricted right hip joint, was performed due to fetal bradycardia at birth. A healthy baby with a weight of 3358 g was successfully delivered. Both mother and neonate had a good postpartum course. Prednisolone and NSAIDs were started after pregnancy. |
pmc-6452488-1 | Patient 1 was a 24-year-old Japanese man. He was suffering from UC and had been diagnosed as fulminant type at the age of 20. RPC with IPAA was performed. He developed pouchitis 6 months after surgery and was treated with antibiotics. However, he later developed chronic antibiotics-resistant pouchitis with a relapsing and remitting pattern. Constantly, treatment with anti-TNF-α antibody (adalimumab) was started but the condition did not improve. The decision was then made to proceed with FMT for pouchitis, and this was performed following the screening of donors. The PDAI score before FMT was 9 points, and this decreased to 7 points at 8 weeks after transplantation. Neither a clinical remission nor a clinical response due to FMT was achieved. No adverse events were observed either after FMT or during the follow-up period (Table ). |
pmc-6452488-2 | Patient 2 was a 45-year-old Japanese man who had suffered from UC since the age of 30 years. He later developed severe UC that was resistant to medical treatment, and RPC with IPAA was performed. He developed pouchitis 48 months after surgery and was treated with antibiotics but his condition subsequently progressed to chronic antibiotic-resistant pouchitis. Administration of a probiotic (VSL # 3) was then started but no improvement was observed. The decision was then made to proceed with FMT for chronic pouchitis. The PDAI score before FMT was 15 points, and this decreased to 14 points at 8 weeks after transplantation. Neither a clinical remission nor a clinical response due to FMT was achieved. No adverse events were observed either after FMT or during the follow-up period (Table ). |
pmc-6452488-3 | Patient 3 was a 52-year-old Japanese woman who had suffered from UC since the age of 36 years. She later developed severe UC resistant to medical treatment at the age of 46. She underwent RPC with PIAA but developed pouchitis 36 months after surgery. A course of antibiotics was started, and the symptoms of pouchitis initially improved before relapse with frequent recurrence. She later developed chronic antibiotic-resistant pouchitits. The PDAI score before FMT was 12 points, and this decreased to 7 points at 8 weeks after transplantation. A clinical remission was not achieved but there was a clinical response. No adverse events were observed either after transplantation or during the follow-up period (Table ).
In the three patients who underwent FMT for pouchitis after RPC with IPAA, a clinical remission was not achieved in any of the cases, but a clinical response was achieved in one case. In addition, no adverse events were observed either after FMT or during the follow-up period. |
pmc-6452494-1 | A 26-year-old young woman presented to our emergency department with chief complaint of abdominal pain with distension, vomiting with defecation stopped for 17 hours. She reported a history of intestine intussusception that had been cured 15 years ago. Pigmented macules over the lower lip, bilateral buccal mucosa, and digits with pale conjunctiva and hyponychiums were found on physical examination (Figure A,B,C). No significant expansion of intestines, no organ injury, or liquid gas plane was seen in the Abdominal plain film (Figure D), yet small intestine-to-small intestine intussusception led by a polyp was advised in the computed tomography (CT) (Figure E, arrows). The expansion and edema of the small intestine as well as multiple localized intraluminal polyp lesions were observed (Figure F, arrows). Microcytic anemia and hypoproteinemia were revealed by the laboratory examination, suggesting the disorders of digestion and absorption function as well as the chronic consumption state caused by the multiple PJS polyps. The diagnosis of PJS was established based on the European consensus statement. An emergency surgery (exploratory laparotomy) was performed to relieve intestinal obstruction. The patient returned to the intensive care unit after the surgery. Routine blood test, blood biochemical and arterial blood gas were monitored every day. An abdominal enhanced CT scan performed 3 days after the surgery showed the previous obstruction had been lifted. In addition, her father was diagnosed as PJS and underwent endoscopic polypectomy 5 years ago. |
pmc-6452495-1 | A 71-year-old male (height 157 cm, body weight 40.0 kg and performance status 1) who presented with anorexia and abnormal liver function following a blood examination was diagnosed with a type II advanced GC in the lesser curvature of the antrum after an upper gastrointestinal endoscopy (Figure ). At the same time, an enhanced computed tomography scan (eCT) revealed multiple liver metastases and enlarged lymph nodes along the branch of superior mesenteric artery region (Figure A). Biopsy results from the gastric tumor yielded a diagnosis of a moderately differentiated adenocarcinoma (Figure A) and 3 + HER2 status by immunohistochemistry (IHC) (Figure B). The clinical diagnosis was L-Less type 2 T3 N3 M1 H1 stage IVb (according to the 15th edition of Japanese classification of gastric cancer).
For this patient, we chose to treat with T-mab and XP chemotherapy; T-mab was given by intravenous infusion at a dose of 8 mg/kg on day 1 of the cycle. Cisplatin 80 mg/m2 was given on day 1 by intravenous infusion. Capecitabine 1000 mg/m2 was given twice a day, orally, for 14 days followed by a 1-week rest. Two weeks following the first treatment, impairment of renal function and anorexia were observed as adverse reaction to cisplatin; the estimated creatinine clearance was reduced to under 30 mL/min, and the severity of anorexia was categorized in grade 1 according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0. Therefore, we terminated the administration of cisplatin and converted the regimen of systemic chemotherapy to T-mab plus capecitabine combination therapy (T-mab + capecitabine). After the start of T-mab + capecitabine therapy, serum CEA was decreased rapidly and the multiple liver metastases, metastatic lymph nodes (Figure B), and primary tumor region showed a remarkable regression at the eighth course of T-mab + capecitabine as a partial response due to RECIST ver. 1.1 (Figure B).
The patient has survived for 40 months without progression of either liver metastases or primary tumor due to continuation of T-mab + capecitabine chemotherapy. |
pmc-6452495-2 | A 76-year-old male (height 164 cm, body weight 53.0 kg, and performance status 1) was referred to our hospital with a diagnosis of advanced GC. Upper gastrointestinal endoscopy indicated type III advanced GC in the lesser curvature of gastric body, and biopsy revealed a diagnosis of a papillary adenocarcinoma. Since lymph node metastasis that were closely located to the lesser curvature were suspected but distant metastasis of GC were not detected in preoperative imaging examinations, we performed an open total gastrectomy with lymph node dissection up to D2. The pathological stage was diagnosed as ML-Less type 2 T4a N3 M0 stage IIIC and moderately differentiated adenocarcinoma with 3+ HER2 status in IHC results from the resected specimen (Figure C,D). Although adjuvant chemotherapy using oral intake of S-1 was performed, lymph node recurrences at the para-aortic region developed in an eCT at 4 months after surgery (Figure A).
To treat the recurrences, we started systemic chemotherapy with T-mab plus paclitaxel as a protocol for a prospective clinical trial (JFMC 45-1102); nevertheless, lymph nodes at the para-aortic region had gradually enlarged. As a second-line treatment, T-mab with XP chemotherapy (same as the protocol in case 1) was conducted from 9 months following surgery. However, the patient showed grade 3 anorexia and fatigue in spite of the step-by-step dose reduction of both cisplatin and capecitabine. Thus, we applied the regiment of T-mab + capecitabine combination therapy. Following five courses of T-mab + capecitabine, the para-aortic lymph node recurrences showed remarkable regression in the eCT (Figure B). It was estimated to be a complete response.
No adverse events and the progression of lymph node recurrences were not observed by T-mab + capecitabine chemotherapy. However, a lung tumor was detected by eCT at 6 years after the surgery despite of continuation of T-mab + capecitabine (Figure ). For the lung tumor, a right lung lobectomy was performed. The postoperative histopathological examination revealed that the lung tumor was a metastasis of GC, and HER2 status was 3+ in IHC. The patient has survived for 6 years and 9 months after surgery without progression or any recurrences. |
pmc-6452496-1 | We describe the case of a 70-year-old man who presented at our institution for recurrent episodes of ventricular tachycardia (VT) refractory to amiodarone and mexiletine in the weeks following a left ventricular assist device (HeartWare Inc, Framingham, MA, USA) procedure. The patient had a history of anterior myocardial infarction with severe left ventricular dysfunction (EF 20%). Under general anesthesia, left ventricle was approached via trans-septal puncture. Using a 20-poles catheter (2-2-2 mm interelectrodes distance, Livewire™, Abbott, MN, USA), a high-density map was built with the EnSite Precision™ Mapping System (Abbott, MN, USA). During sinus rhythm, a large myocardial scar (<0.2 mV) on the anterior and septal LV wall was documented, but no late potentials were recorded. A clinical VT (CL [cycle length] 400 ms), hemodynamically tolerated, was induced. An activation map of the VT was attempted (Figure ) with the entire diastolic pathway depicted. Pulses of RF (50 W, 43°C) were delivered at the isthmus site with immediate termination of the arrhythmia. No ventricular arrhythmias were induced up to three extrastimuli. No complications were encountered. At 6 months of follow-up, patient did not experience VT recurrences. |
pmc-6452499-1 | Patient 3, a 50-year-old gentleman, had a motorcycle accident and used his left hand to break his fall, grazing his palm along the road. He sustained a deep full-thickness friction burn up to and including the fat pad of the hypothenar eminence, measuring 40 mm by 30 mm (Figure A). After initial daily dressings for 6 days, which he found excruciatingly painful, skin grafting was performed at his request. Unfortunately, after 10 days the graft did not take and sloughed off leaving a 33 × 25 mm sized wound (Figure B), which would have taken at least 4 weeks to heal. It was decided to start CACIPLIQ20® the next day because his pain tolerance was low (VAS—visual analog score—of 7) and conventional treatments had failed. One week after application, improvement (Figure C) and pain relief were already felt by the patient. Within 2 weeks of commencing CACIPLIQ20®, the patient's VAS score dropped from 7 to 4 and the wound size had reduced to 5 mm by 5 mm (Figure D). All of his wounds dried up by day 17 of application.
Patient 3 had a full-thickness wound (Figure A) measuring 30 mm by 40 mm at presentation which was treated both by conventional dressings and by skin grafting, partly because of his low threshold of pain. When the graft did not take (Figure B), CACIPLIQ20® was started. A dramatic improvement in both size and pain level was achieved, contrary to the results with previous initial treatments. The wound size was reduced by half in 1 week (Figure C) and almost healed by 2 weeks (Figure D), unexpectedly showing an accelerated rate of healing. |
pmc-6452500-1 | A 71-year-old woman suspected of a right iliac metastatic tumor was referred to our hospital. Laboratory examinations suggested multiple myeloma with the following results: Hb, 7.7 g/dL; CRE, 6.60 mg/dL; BUN, 76 mg/dL; eGFR, 5.4 mL/min/1.73m2; Ca, 9.2 mg/dL; FLC κ, 9660 mg/L; FLC λ, 18.40 mg/L; FLC κ/λ ratio, 525; urine Bence Jones Protein (BJP-κ), positive. Normal immunoglobulins were suppressed by drastic increases of free light chain κ with the following results: IgG, 576 mg/dL; IgA, 36 mg/dL; IgM, 16 mg/dL. Other results were as follows: WBC, 6.73 × 109/L; Plt, 329 × 109/L; PT%, 95%; aPTT, 30.6 seconds; Fib, 478 mg/dL; d-dimer, 7.1 µg/mL. No medications were taken at the time of admission. A bone marrow aspiration test revealed the presence of monoclonal plasma cells (CD38+ Cytoplasmic-κ+, DNA aneuploidy [56 chromosomes]). No megakaryocytic dysplasia or megakaryocytopenia was observed in the marrow. For the treatment of renal impairment, HD with heparin as an anticoagulant was initiated on the admission day with a bolus of 500 U at the start of the session followed by a maintenance infusion of 500 U/h. The time course of the platelet count and detailed information regarding the HD are shown in Figure . On day 12, the anticoagulant was temporarily changed to nafamostat mesilate (NM) to prevent bleeding during a bone marrow aspiration test scheduled on the same day. Anticoagulation using heparin at the same dose was restarted on day 14, and on day 17, the bolus dose was increased to 1000 U and 1000 U/h for maintenance since clotting in the HD circuit was observed during previous HD sessions. The dialysis method was also changed to postdilutional HDF (TDF-15M; Toray Medical, Co., Ltd., Tokyo, Japan) for the purpose of free light chain removal. Clotting in the circuit was observed even after increasing the heparin dose, and post-HDF laboratory examinations revealed a marked reduction in platelet count from 234 × 109/L to 27 × 109/L. The aPTT was normal (32.3 seconds). No red cell fragments were observed on the peripheral blood smear. We did not observe the sudden onset of anemia based on the hemoglobin levels shown in Figure . Since we suspected HIT, anticoagulation with NM was subsequently initiated. The 4Ts score proposed by Warkentin, , had a total of 4 points (intermediate): 2 points for thrombocytopenia, 1 for the timing of platelet count fall, 0 for thrombosis, and 1 for other causes of thrombocytopenia (anemia, primary hematologic disorder, and elevated d-dimer score). The discontinuation and initiation of heparin and NM, respectively, resulted in plate count normalization. Although clotting was observed during HDF with NM, it was resolved by changing the dialysis catheter. On day 33, during HDF with NM, the results from a HIT antibody test by latex immunoturbidimetric assay using HemosIL HIT-Ab (PF4-H) (Instrumental Laboratory, Japan) were negative. Therefore, anticoagulation using heparin was restarted using a bolus dose of 1000 and 1000 U for maintenance. However, since clotting in the hemofilter reoccurred, anticoagulation with NM was reinitiated. The platelet count also dropped from 248 × 109/L to 186 × 109/L after HDF. She eventually received HDF with high-dose heparin at 1500 U for bolus and 1000 U/h for maintenance from day 38. Chemotherapy with bortezomib and dexamethasone (BD) was initiated on day 39 and was administered once a week thereafter (day 39, 46 and 53). Of note, no unexpected clotting events occurred during BD treatment and high-dose heparin anticoagulation. Since her condition improved (FLC-κ 23.2 mg/L on day 59), she was transferred to another hospital on day 59 for HD maintenance and further treatment. |
pmc-6452517-1 | A 10 years and 6 months old girl, was admitted to hospital due to “epileptic seizures for five months”, which manifested as an involuntary nodding movement accompanied by loss of consciousness, with no fever, limb stiffness, cyanosis, salivation and incontinence. During the early period of illness, these symptoms lasted for about 10 s - with a frequency of about 2 episodes per day. Then it gradually increased to 30 s to 1 min before spontaneous cessation, with a frequency of about 4–5 times a day. The patient was treated with “carbamazepine and vitamin B6” but there was no obvious improvement in symptoms or progression of illness. Physical examination done at time of admission: T 36.8 °C, P 89 beats /min, R 19 beats / min, BP 109/68 mmHg. Weight 27 kg, height 125 cm. The patient is positive for special type of facieswitha flat nose, wide-set eyes, micrognathia, deciduous and misaligned teeth, and 9 maxillary and mandibular teeth. Head circumference is 52 cm.The anterior fontanelle is open, approximately 4 × 4 cm size, and soft on palpation. The sagittal and coronal sutures are unclosed. The width of the sagittal suture is about 6 cm. The width of the coronal suture is about 0.5 cm. They are all soft and flat, without tenderness. No résistance was felt in the neck. Defects can be observed in the right clavicle, bilateral shoulders can reach the midline. The thoracic cavity hollows and changes like a funnel. A brown patch which is approximately 2.5 × 1.0 cm in size is visible on the left wrist and a light brown patch of approximately 3.5 × 4.0 cm is visible on the right wrist. The double knee valgus is deformed in an “X” shape with no limitation of activity. There were no abnormalities in the spine and joints, and the muscle strength and muscle tones of the limbs were normal. The pathological reflex were negative (Fig. ). The child raised his head at 3 months old, crawled and rolled over at 7 months old, walked alone and called daddy and Mommy at 1 year old. At present, she is in the third grade of elementary school, she can answer simple questions but cannot add or subtract within 10. The funnel chest was found a week after birth, and the anterior fontanelle was not closed at 2 years old, none of them were treated. The child has two brothers, both healthy, with no obvious abnormalities in development (Fig. ). laboratory examination: blood routine: WBC 4.6 × 109/L, N 34.9%, HB 134 g/L, PLT 281 × 1012/L; Blood ammonia: 40 umol/L; Vitamin D determination: 12.8 ng/ml; Kidney and kidney function, electrolytes, blood gas analysis, glucose, pyruvate, β - hydroxybutyrate, calcium/phosphate/alkaline phosphatase, urination and defecation were both normal. Electrocardiogram is normal overall. X-ray examination showed: Asymmetry in Bilateral clavicles, a third of the right lateral clavicle is absent. The cranium is higher, the cranial suture are widened, and the anterior fontanelle was not closed. The bone structure of the cranial plate is not completely developed. There are many suture bones in the skull. (Fig. ). Video EEG: Abnormal: multi-focal sharp wave, sharp and slow wave were frequent issued (Fig. ). Skull clavicle dysplasia syndrome RUNX2 gene sequencing suggested RUNX2 c.947delA p. (His316fs) heterozygous, pathogenic frameshift mutations (Fig. ). |
pmc-6452522-1 | A 29-year-old woman with past medical history of breast fibroadenoma and ovarian juvenile-type granulosa cell tumor at age 14 presented to the emergency room following two episodes of disorientation, global aphasia, and left-sided facial and lower extremity numbness with paresthesias. The patient did not lose consciousness, was somnolent after both episodes but recovered, and was able to continue with her work that day. Further history revealed the patient had experienced intermittent headaches during the prior 2 weeks. She denied trauma, seizure history, vision changes, gait instability, or recent illness.
Patient had a left salpingo-oophorectomy at age 14. Routine follow-up scans for 5 years after her cancer diagnosis suggested remission. Her last menstrual period was 2 days prior to presentation. Social history revealed the patient drank socially, never smoked, and she denied drug use. Patient's mother had a cerebral vascular abnormality and her maternal aunt died of a brain aneurysm. The patient's father was diagnosed with rectal cancer at age 37 and died of T-cell lymphoma at age 47. Her paternal grandfather had colon and lung cancer at age 47 and died at age 50. Her maternal grandmother was diagnosed with multiple myeloma at age 78.
Vital signs: Temp 99.0ºF, BP 125/77 mm Hg, Pulse 98/min, RR 18/min, SpO2 99%, BMI 31.76 kg/m2. She was in no acute distress and cooperative throughout the examination. The patient was alert and oriented to self, time, and place with no focal neurological deficits.
MRI brain with and without contrast demonstrated an intra-axial anterior left temporal lobe enhancing mass measuring 1.5 cm in diameter. The lesion was isointense on T1-weighted images, hyperintense on T2-weighted images, showed ring enhancement on T1 with contrast and had perilesional hyperintensity on FLAIR sequence suggestive of vasogenic edema (Figure ). A 21 channel continuous digital EEG performed at bedside yielded no epileptiform activity.
Given the patient's history and imaging, a metastatic workup was conducted. Relevant laboratory results are highlighted in Table . CT chest, abdomen, and pelvis were remarkable for a 1.4 cm × 2.2 cm soft tissue density within the left breast consistent with a benign fibroadenoma. A transvaginal ultrasound was performed which demonstrated a left salpingo-oophorectomy and a right ovary that measured 4 cm × 2.8 cm × 3.7 cm with slightly complex cysts that measured 2.1 cm × 1.5 cm × 2.2 cm, consistent with physiologic corpus luteal cysts.
The patient was admitted to the oncology service with frequent neurological evaluations and started on dexamethasone 4 mg every 6 hours and levetiracetam 500 mg twice daily. Five days after admission, the patient underwent an image-guided left frontal-temporal craniotomy. The patient's head was secured in a radiolucent skull clamp and an intra-operative CT scan obtained in the surgical position was fused to a preoperative thin slice postcontrast MRI, and a surgical navigation system was registered to the patient with good accuracy. She underwent a left temporal craniotomy where the subcortical tumor was localized with image guidance and was found to be firm and well encapsulated. The lesion was removed en bloc and sent for frozen and permanent pathology. Frozen section suggested a poorly differentiated malignant metastatic lesion of unknown primary origin.
A postoperative MRI scan within 24 hours of surgery demonstrated gross total resection (Figure A). She remained neurologically intact and was discharged to home on post-op day number 2 on a steroid taper.
Histologic sections revealed tumor with large areas of necrosis and numerous mitotic figures (Figure A). The section showed predominantly pleomorphic epithelioid cells showing plump eosinophilic cytoplasm and sharp cell borders mimicking a metastatic melanoma or carcinoma (Figure B). The morphologic features were inconsistent with an ovarian juvenile-type granulosa cell tumor. Immunohistochemistry showed that the tumor was positive for GFAP, supporting glial differentiation (Figure C). Immunostains for melanoma including SOX10, HMB45, and S100 were negative. An immunostain for p53 also showed diffuse positivity and INI-1 showed no loss of nuclear expression. A reticulin stain revealed absence of an intercellular reticulin meshwork. Molecular analyses were also obtained and revealed no mutations in the IDH1 and IDH2 genes (wild-type) and in exon V600 of the BRAF gene. Mutations for EGFR variant III expression and MGMT promoter methylation were also negative. The overall findings were consistent with glioblastoma in which the epithelioid type was supported by the cytologic features—namely the sharp cell borders and rounded nuclei—that imparted a more epithelioid, rather than glial, appearance.
Four weeks after surgery, the patient underwent fractionated partial brain irradiation consisting of 60 Gy over 6 weeks. She completed an MRI brain with and without contrast at 3 and 6 months postoperatively which showed no evidence of tumor recurrence (Figure ). Patient has since refused adjuvant temozolomide therapy and is currently seeking nutritional therapies. She has been seizure-free on levetiracetam throughout her clinical course and remains neurologically intact. |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.