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pmc-6406167-1 | A 33-year-old (gravida 7 para 3) woman was referred for suspected abnormal placentation at an estimated 7 weeks of gestation. Her obstetrical history was significant with one normal vaginal delivery, followed by two subsequent cesarean sections. Nine years earlier, the first cesarean section was uneventfully performed by a transverse incision of the lower uterine segment at another clinic, due to vulvar herpes simplex infection.
Seven years ago, after referral to our hospital due to placenta previa (Figure A, arrow), a second elective cesarean section was performed at 36 weeks of gestation, by an anterior vertical incision under temporary endovascular balloon occlusion of the bilateral internal iliac arteries. However, after deflation of the balloon, the peripartum period was complicated by intractable uterine hemorrhage (Figure B, arrow). An emergency bilateral UAE was performed with gelatin sponge particles, followed by an additional placement of platinum microcoils in the left uterine artery (Figure C, arrow) to achieve complete hemostasis. The subsequent postpartum course was uneventful.
At initial examination during the current referral, the transvaginal ultrasonography showed a heterogeneous mass with perivascular flow in the cesarean section scar (Figure A, arrow). Magnetic resonance imaging indicated an endogenic growth of the gestational products measuring 33 × 15 mm (Figure B, arrowhead) embedded in the transverse scar of the first cesarean section (Figure B, short arrow), toward the lower uterine segment. The vertical scar of the second cesarean section was also seen in the anterior uterine wall (Figure B, long arrow).
A three-dimensional computerized tomographic angiography (Figure C) showed the gestational products receiving blood supply from the right uterine artery (Figure C, arrowhead) and an aberrant anastomosing left ovarian artery (Figure C, short arrow). Although the main trunk of the left uterine artery was permanently occluded by the platinum microcoils, some persistent microvascular feeding branches of the left uterine artery (Figure C, long arrow) were also recognized. The serum β-human chorionic gonadotropin (hCG) level was 42 022 mIU/mL (Figure F).
With the diagnosis of endogenic cesarean scar pregnancy established, the treatment options were discussed with the patient and her husband. The proposed management options included transcatheter arterial chemoembolization (TACE) with or without subsequent hysteroscopic resection of the gestational products and abdominal hysterectomy. An initial angiographic intervention was chosen based on the patient's strong desire to avoid laparotomy and preserve the uterus.
Digital subtraction angiography was performed as previously described. Seldinger puncture of the right femoral artery was performed for arterial access under local anesthesia. Under digital subtraction angiographic guidance, the feeding branches of the right (Figure A, arrow) and left (Figure B, arrow) uterine arteries were super selectively catheterized. For TACE, 500 μg of dactinomycin (Cosmegen; Merck & Co., Inc, Whitehouse Station, NJ) was dissolved in 60 mL of physiological saline. Half of this solution was continuously infused into the right uterine artery and the other half into the left uterine artery, each for 30 min with a dose-controllable syringe pump. Gelatin sponge particles (Serescue; Nippon Kayaku, Tokyo, Japan) were then directly injected into the feeding branches of the bilateral uterine arteries to induce thrombosis.
However, despite a successful bilateral UAE, aberrant vascular flow to the CSP from the left ovarian artery persisted (Figure C, arrow). Hence, the left ovarian artery was embolized with N-butyl-2-cyanoacrylate (Histoacryl; Braun, Melsungen, Germany) mixed with iodized oil (Lipiodol; Guerbet Japan, Tokyo, Japan). Finally, a pelvic angiogram was obtained to confirm the absence of any other feeding arteries.
After TACE, the serum β-hCG level rapidly decreased (Figure F) and devascularization around the gestational products was confirmed by transvaginal ultrasonography (data, not shown). Subsequently, a hysteroscopic resection of the gestational products was attempted under spinal anesthesia. On hysteroscopy, extensive intrauterine adhesions were seen (Figure D). After hysteroscopic adhesiolysis, the gestational products (Figure E) were successfully resected.
Thedays after TACE, the serum β-hCG level returned to below the level of nonpregnant women (<6 mIU/mL; Figure F), and menstruation resumed spontaneously. The patient was administered low-dose contraceptive pills as desired by her. |
pmc-6406212-1 | A 59-year-old male presented a 3-month history of white blood count (WBC) increase. Past medical history was not significant. Physical examination was unremarkable with a conserved general status and the absence of lymph node enlargement, splenomegaly, or hepatomegaly. An abdominal ultrasound revealed the presence of a mild splenomegaly. The full blood count demonstrated a WBC increase at 23.9 × 109/L, including a neutrophilia at 20.8 × 109/L, a mild basophilia at 0.5 × 109/L and a slight eosinophilia at 0.7 × 109/L. Normal Hb level (14.5 g/dL), Ht (44%), mean corpuscular volume (93 fL), and mean corpuscular hemoglobin concentration (33%) were observed. Platelet, lymphocyte, and monocyte count were in normal range (298 × 109/L, 1.5 × 109/L, and 0.5 × 109/L, respectively). Interestingly, a high reticulocyte count at 227 × 109/L was observed. The hypothesis of a MPN was established, and a peripheral blood (PB) molecular screening was performed. A JAK2 V617F mutation was detected with a high mutated allele burden at 54%. An additional EZH2 exon 8 mutation was detected by next-generation sequencing (NGS). All other mutations screened, including CSF3R exon 14-17 mutations, and BCR-ABL1 transcripts were negative, ruling out the diagnosis of chronic neutrophilic leukemia and chronic myeloid leukemia, respectively. The complete list of the mutations screened by NGS is reported in Table . The presence of splenomegaly, leucocytosis with neutrophilia, and basophilia and a high V617F JAK2 allele burden conduce to hypothesize a Primitive MyeloFibrosis (PMF) and a bone marrow (BM) biopsy was performed. Unexpectedly, the BM sections demonstrated hypercellulary with a panmyelosis feature, similar to that observed in PV. Megakaryocytes were increased in number, pleiomorphic in size, without significant morphologic abnormalities, and sometimes regrouped in loose clusters. No fibrosis was observed at reticulin staining (Figure ). The BM smear was hypercellular with numerous megakaryocytes, an equilibrated granulocytic to erythroblastic ratio and a slight increase in basophilic cells, estimated at 2% (not shown). A normal 46,XY[25] karyotype was observed in the BM aspirate. Fluorescent in situ Hybridization was negative for BCR-ABL1, PDGFRB, and FGFR1 rearrangements and for CHIC2 deletion. In light with the hypothesis of PV according to the panmyelosis feature in the BM sections, 51Cr Red Cell Volume (RCV) and 125I Albumin were measured. Normal red cell and plasmatic volumes were observed. Serum erythropoietin level was in normal range, at 8.3 IU/L (normal range: 2.6-18.5 IU/L). There was no evidence of iron deficiency. Because of a high reticulocyte count, a hemolysis screening was performed and demonstrated a decreased haptoglobin level at 0.24 g/L (normal range: 0.85-2.30 g/L), an increased non-conjugated bilirubin level at 58 μmol/L (normal range: <17 μmol/L) and an elevated lactate dehydrogenase level at 561 IU/L (normal range: 135-225 IU/L), confirming a hemolytic process. To objective the hemolysis, a 51Cr red blood cells lifespan was performed, which was at the lower limit of the normal (24 days, normal range: 24-32 days), with a moderate and compensated hyperhemolysis, without hepatosplenic fixation. The etiology of hemolysis is still unknown (absence of morphological abnormalities of the erythrocytes on the PB smear, negative direct antiglobulin test, absence of paroxysmal nocturnal hemoglobinuria clone, normal Hb electrophoresis, normal 6-phosphoglutonate dehydrogenase and pyruvate kinase activities). Finally, taken together all these features were consistent with a diagnosis of PV masked due to a hemolytic process. Daily low-dose acetyl salicylic acid was introduced. Neither phlebotomy nor cytoreductive therapy was necessary according to the therapeutic guidelines of PV. Eight months after the diagnosis, no thrombotic events were reported. WBC and red blood parameters remained stable and hemolysis was still observed. |
pmc-6406215-1 | The patient was a 42-year-old woman. She had suffered from migraine and tension-type headaches since her twenties. The migraine headache was described as pulsatile, bilateral, and on the forehead, persisting from a few hours to half a day. It occurred seven to eight times a month irrespective of menstruation and was accompanied by aura (partial deficit of the left visual field lasted approximately 10 minutes), light sensitivity, and nausea. She took oral loxoprofen 60 mg to treat the headache, on average, <15 days a month, which did not meet the standard of mediation-overuse headache. The tension-type headache was followed by muscle stiffness from the shoulders to the neck and was exacerbated by fatigue. The frequency of pain attacks was one per week. The duration was 1 or 2 days. The headache was bilaterally located, of pressing quality, was not aggravated by walking, not associated with nausea and photophobia.
Eight days before admission, the patient had engaged in farm work. During this work, she reported that grass fragments had entered her right eye while operating a mower. She experienced strong pain and a foreign body sensation but stated that there had been no bleeding or inflammation. The next morning, she reported general malaise and a persistent pulsatile headache on both sides of her forehead, accompanied by a fever of 38.5°C by the evening. The headache was accompanied by nausea and occasional vomiting; it was aggravated by turning her face downward and was not associated with photophobia and phonophobia. The effect of loxoprofen was inadequate and lasted only a few hours. The symptoms gradually worsened over the following 3 days, and the nature of the headache changed to a pain that tightened around the whole head. Nausea appeared in addition to the headache, so she presented to a nearby clinic. Head computed tomography was performed and showed no evidence of cerebral hemorrhage. She was discharged with reassurance; however, her headache gradually worsened and she consulted the clinic again 2 days later and was referred to our hospital with suspected meningitis.
Neurological examination, laboratory data from blood and spinal fluid (Table ), and contrast-enhanced head magnetic resonance imaging (Figure A) showed neither meningitis nor any other abnormality that could explain the headache. The serum antibody of tsutsugamushi disease, which is a kind of Lyme disease, was negative. Systemic reactions including BHL, serum Ca high values, which suggest sarcoidosis, were negative. Head computed tomography (Figure B) and computed tomography angiography (Figure C) also revealed no cerebral hemorrhage, vertebral artery dissection, or cerebral aneurysm. At this time, she described the headache as 10/10 on a numeric rating scale (NRS). Intravenous infusion of 1000 mg acetaminophen over 2 days reduced the severity of the headache to an NRS of five. Although the patient reported a considerable improvement in the headache, she stated that the mild occipital pain remained. A stinging pain was described that lasted for several minutes and was mixed with a constant and background occipital pain. We considered occipital neuralgia at this point and started treatment with 400 mg of oral carbamazepine, which improved the headache to an NRS of two by the following day.
On the fifth day of admission, the patient reported difficulty in opening her mouth. The distance between the upper and lower incisors was 5 mm. Temporomandibular joint MRI showed no abnormality and excluded temporomandibular joint disease (Figure D). Based on the history and characteristic symptom, she was diagnosed with tetanus and treatment was started with tetanus toxoid vaccine, human tetanus immunoglobulin (3000 units), and penicillin G (12 million units). By the next day, this treatment had improved the remaining headache that encircled the whole head to an NRS of 0, but an occipital headache remained.
During the subsequent disease course, the patient developed various symptoms, including facial nerve paralysis, stiffness of the tongue base, photophobia, and cardiac autonomic nervous disorder (Figure ). She developed facial nerve palsy and stiffness of the tongue base the day after the appearance of trismus. The facial nerve palsy was bilateral and peripheral. Her nasolabial grooves were equal on the both sides, but the weakness of the orbicularis oculi muscle was left-side dominant, which caused leakage from the corner of her mouth when she took fluid orally. Although the stiffness of the tongue base caused a sensation of throat obstruction, she could breathe and swallow normally. She developed dysarthria due to the trismus and weakness of orbicularis oris muscle. Photophobia appeared in the order of the left to the right side, and she experienced a loss of taste.
Although most symptoms began to improve with treatment, she reported palpitations under mild exertion on the 20th day. The coefficient of variation of the R-R intervals on an electrocardiogram was 1.71% at this point, indicating autonomic dysfunction, but this improved to within the normal range 1 week later (3.14%). She was followed as an outpatient, and after 7 weeks she had regained full strength of the orbicularis oris muscle and her persistent occipital pain had improved. |
pmc-6406216-1 | A 55-year-old female patient presented for diagnostic imaging evaluation of a “vague thickening” in the right breast at 1:00, 2 cm from the nipple, noted on clinical breast examination by her primary provider. Relevant history includes the use of combination hormone therapy for the previous 5 years and a family history of postmenopausal breast cancer in the patient's maternal grandmother.
Diagnostic mammogram with tomosynthesis and targeted ultrasound were performed and interpreted as BI-RADS 1: negative (Figure ). The breasts were categorized as extremely dense. The patient was referred to the Breast Clinic for continued concern on physical examination. Physical examination performed by the Breast Clinic physician was unremarkable; no dominant breast masses were identified.
The patient elected to participate in a MBI research study open to women with dense breast tissue and a recent negative mammogram. MBI was performed with intravenous injection of 152 MBq (4.1 mCi) Tc-99m sestamibi and imaging commenced within 5 minutes of injection using the MBI system (LumaGem, CMR Naviscan, Carlsbad CA). Bilateral craniocaudal (CC) and mediolateral oblique (MLO) views were acquired with the breast in gentle compression (10 minutes per view). MBI showed asymmetric, segmentally distributed, marked intensity radiotracer uptake in the upper outer right breast in the region of palpable abnormality measuring 5.9 cm in maximum dimension (Figure ).
Second-look ultrasound of the right breast at 1:00, 6 cm from the nipple, showed an ill-defined hypoechoic area with posterior shadowing corresponding to the radiotracer uptake on MBI (Figure ). Ultrasound-guided biopsy was performed. Pathology demonstrated a 0.2 cm focus of pleomorphic ILC, Nottingham grade I (of III), ER/PR positive, HER-2Neu negative, and Ki-67 of 19%.
Due to the size discrepancy between the MBI abnormality and biopsy findings, MRI was recommended. MRI demonstrated a 4.8 × 1.6 × 2.6 cm enhancing mass in the upper outer right breast corresponding to the area of biopsy-proven ILC (Figure ). There were innumerable additional irregular enhancing masses throughout the right breast, suspicious for malignancy. No lymphadenopathy was noted.
The patient underwent bilateral skin-sparing mastectomy with right axillary sentinel lymph node biopsy. Final pathology revealed ILC, Nottingham grade II (of III), pleomorphic type, measuring 11 × 5.3 × 4.2 cm in the upper outer quadrant, superior central breast, and upper inner quadrant. An additional focus of ILC measuring 0.5 × 0.5 × 0.4 cm was identified in the lower outer quadrant. Final pathologic staging was pT3pN0 (i+).
PET-CT showed no evidence of distant metastatic disease. Postsurgery, she received radiation therapy consisting of 5000 cGy in 25 treatments. An Oncotype-DX score was 19, leading to a recommendation for adjuvant endocrine therapy. However, she experienced significant hot flashes following discontinuation of estrogen therapy and was unable to tolerate adjuvant endocrine therapy. She has been monitored for 2.5 years since diagnosis with no evidence of disease. |
pmc-6406217-1 | A 41-year-old woman presented with unusual extensive plaque lesions covered with thick, hyperkeratotic, sharp-edged, silvery-white scales symmetrically distributed on the knees (Figure A), pelvic girdle (Figure A,B), and feet (Figure ). Vesicles were disseminated on skin areas not covered by the plaques. She reported that the lesions had appeared 1 year earlier, and she received topical corticosteroids for a diagnosis of psoriasis. Repeated HIV tests were negative. A review of her medical records revealed a diagnosis of hepatitis C and cervical ganglion tuberculosis before the appearance of skin lesions. Both conditions were treated, and the patient was discharged in good condition.
A skin biopsy revealed Sarcoptes scabiei mites in burrows in the stratum corneum (Figure B). Treatment was started with topical permethrin 5% daily for 7 days, and then twice weekly for 2 weeks plus oral ivermectin (200 μg/kg/dose) given on days 1, 2, 8, 9, and 15. The skin lesions cleared rapidly.
Seven months after complete clearance of crusted lesions, her general health suddenly worsened with intermittent fever, severe weight loss of 10 kg, enlarged lymph nodes, fatigue, night sweating, malaise, and bruised skin. She was admitted to the Hematology Unit and investigation revealed anemia, leukocytosis, hypercalcemia, and elevated lactate dehydrogenase. Samples were positive for anti-HTLV-1 antibodies as detected by enzyme-linked immunosorbent assay (ELISA), confirmed via polymerase chain reaction (PCR). Further hematological investigation was carried out with bone marrow biopsy and computed tomography scan, showing intraabdominal lymphadenopathy that led to the diagnosis of ATL associated with HTLV-1 infection. Hepatitis C also recurred.
A recurrence of crusted skin lesions was observed, this time on the scalp and ears. She received antiviral therapy with zidovudine, acyclovir, and alpha-interferon against HTLV-1. Subsequently, cycles of cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) chemotherapy considerably improved the symptoms. Skin lesions cleared again with topical permethrin 5% plus oral ivermectin. One year after treatment, the patient is in good health. |
pmc-6406220-1 | A 30-year-old woman (gravida 3 para 1) was admitted to our hospital for elective repeated caesarean delivery at 38 weeks’ gestation. Her pregnancy had progressed uneventfully. Based on the interview at admission, the woman reported of feeling decreased fetal movements from 3 days prior to admission. She also had weak uterine contractions at 1-2 times per hour. At 37 weeks’ gestation, CTG showed normal baseline findings with normal variability and an acceleration of approximately 30 bpm (Figure ); however, a diminished acceleration of 10-15 bpm with normal baseline variability was shown on the CTG at admission (Figure ). Four hours later, the baseline variability decreased, and the acceleration became unclear on the CTG (Figure ). Further 40 minutes later, a late deceleration and sinusoidal heart rate-like findings were observed following weak uterine contraction (Figure ). Cesarean section was performed, and a 2746-g pale, female infant was delivered with Apgar scores of 7 and 8 at 1 and 5 minutes, respectively. The umbilical artery pH was 7.344; however, the hemoglobin concentration was 4.2 g/dL (normal: 13-22 g/dL) with reticulocyte counts of 19.0% (normal: <7%). The maternal hemoglobin-F and serum alpha-fetoprotein levels were 4.8% (normal: <1.0%) and 2860 ng/mL (10.2 multiple of median), respectively. Altogether, the case was diagnosed as fetomaternal hemorrhage. |
pmc-6406221-1 | The patient was a Japanese 72-year-old man, who had been diagnosed with atypical chronic myeloid leukemia (aCML) in 2014. He was an ex-smoker who did not regularly consume alcohol. In September 2015, treatment with oral cytarabine ocfosfate hydrate was initiated. After four cycles, he developed pneumonia, and treatment was terminated in February 2016. In April 2016, although he had no complaints, his serum C-reactive protein level was found to have re-increased to 4.6 mg/dL, and a chest X-ray and high-resolution computed tomography (HRCT) revealed scattered small nodular shadows and patchy consolidation (Figure A,B). The radiological findings did not improve despite the administration of antibiotics and antifungal drugs.
We performed bronchoscopy in May 2016. Bronchoalveolar lavage performed in the right upper lobe recovered 90 mL of 150 mL (60%) with 1.3 × 105/mL cells (neutrophils: 26%, lymphocytes: 36%, eosinophils: 1%, and macrophages: 37%). The histological examination of a specimen obtained from the right upper lobe via transbronchial lung biopsy revealed findings consistent with OP (Figure A). On immunofluorescence testing, the patient's antinuclear antibody titer was <40, and no other autoantibodies, including anti-SS-A, anti-aminoacyl tRNA synthetase antibody, rheumatoid factor, and anti-cyclic citrullinated peptide antibody, were detected. We diagnosed the patient with secondary OP associated with aCML. Treatment with prednisolone (30 mg, daily) was initiated, which resulted in the improvement of the laboratory and radiological findings, and the dose of prednisolone was then gradually tapered (Figure ). In September 2016, the patient developed general fatigue while under treatment with prednisolone (17.5 mg, daily). Chest CT revealed diffuse ground-glass opacities (GGOs). We considered the possibility of a recurrence of OP, and therefore increased the dose of prednisolone to 30 mg, daily; however, the patient's condition did not improve.
The patient was admitted to our hospital due to dyspnea on effort in November 2016. On admission, a physical examination revealed the following findings: respiratory rate, 15 breaths per minute; heart rate, 80 beats per minute; blood pressure, 106/60 mm Hg; and body temperature, 37.3°C. Chest auscultation revealed no abnormalities.
The laboratory tests performed on admission included an arterial blood gas analysis under ambient air, which showed the following findings: partial pressure of oxygen, 60.3 Torr; partial pressure of carbon dioxide, 30.4 Torr; and pH, 7.446. A blood analysis revealed the following findings: white blood cell count, 41 900/μL (neutrophil, 88.0%; lymphocytes, 5.0%; monocytes, 2.0%; promyelocytes, 1.0%; and myelocytes, 3.0%; metacytes, 1.0%); hemoglobin, 7.8 g/dL; platelet count, 34.2 × 104/μL; lactate dehydrogenase, 564 IU/L, Krebs von den Lugen-6, 2826 U/mL; and carcinoembryonic antigen, 15.6 ng/mL. The patient was negative for β-D glucan and cytomegalovirus antigen. HRCT showed diffuse GGOs in both lung fields (Figure C,D).
On the following day, we performed bronchoscopy with bronchoalveolar lavage in the right middle lobe. The bronchoalveolar lavage fluid showed a light milky appearance (Figure B) and was periodic acid-Schiff (PAS)-positive. Transbronchial lung biopsy revealed the precipitation of dense, homogenous, eosinophilic material, which had a fine granular appearance, and which filled the alveoli (Figure C); however, no evidence of OP was found. Based on these findings, he was diagnosed with PAP. Although the granulocyte/macrophage colony-stimulating factor autoantibody level was not measured, the diagnosis of sPAP was confirmed by compatible radiological findings and a pre-existing diagnosis of aCML.,
He gradually developed respiratory failure with the progression of PAP; whole-lung lavage was subsequently performed. Unfortunately, the patient died of acute enteritis within 1 month of whole-lung lavage. |
pmc-6406222-1 | An 84-year-old woman referred to ENT Department of “Guglielmo da Saliceto” Hospital of Piacenza for a slowly progressing recurrent lesion from the skin with initial ulceration of the left parotid region detected six months before (Figure ). The previous year, the patient presented a small nodular lesion in the same region. She was submitted to enucloresection in another institution. Histological examination showed the presence of a pleomorphic sarcoma. The deep resection margin was close to the lesion.
Physical examination revealed a solid mass with a maximum diameter of 5 cm without palpable regional lymph nodes and Grade 3 facial palsy according to the House-Brackmann classification. Neck MRI showed a soft tissue mass of the parotid gland measuring 3.8 × 4.3 cm. The lesion infiltrated the residual part of salivary gland, the common branch of the facial nerve, the skin of the face, and the masseter muscle. Total body CT excluded macroscopic distant metastases.
A radical parotidectomy with sacrifice of the facial nerve, extended to the skin and masseter muscle, and selective neck dissection (level Ib-II-III) were performed. Reconstruction of the facial region was performed using a radial fasciocutaneous free flap. No primary reconstruction of facial nerve was performed considering the poor prognosis and advanced age of the patient.
The surgical specimen showed an ulcerated 5 cm large neoplasm. Soft tissues were infiltrated with a thickness of 1.5 cm. The tumor was composed of short interlacing bundles of large spindle and round cells exhibiting severe nuclear pleomorphism with scattered anaplastic cells and frequent mitoses (more than 10 mitoses/10 HPF). The tumor extended into the parotid gland, subcutaneous fat, and skeletal muscle with infiltrating borders. At immunohistochemistry, tumor cells were positive for vimentin and CD68 (both KP1 and PG-M1 clones). Desmin, human caldesmon, smooth muscle actin, S100 protein, and cytokeratins (clone AE1/AE3) were negative (Figure ). Surgical margins were negative. No lymph node metastases were detected.
The postoperative course was uneventful. Adjuvant radiotherapy was administered on the facial region starting 4 weeks after surgery for a total dosage of 60 Gy. The patient is free of disease 5 years later (Figure ). Informed consent was obtained from the patient to publish her case. |
pmc-6406223-1 | The patient was a 1.5-year-old boy who was admitted to the hospital with a primary complaint of fever, diarrhea, and vomiting. At the beginning of the hospitalization, the patient had a generalized clonic-tonic seizure. The patient was dispatched to our intensive care unit on the fourth day of admission due to reduced consciousness.
Patient is the first child of a family and is resident of the village. He had a history of pneumonia at 6 months of age. There was a history of seizure of fever in his family. From the outset, he was treated with ceftriaxone, vancomycin, phenytoin, and acyclovir. The growth and development were normal.
The patient had tachypnea and tachycardia, and fever was 39°C. Percent oxygen saturation without getting oxygen was 98%. It was toxic and had GCS = 8. The patient had a mild tenderness on the right side of the abdomen with a predominance in the RLQ (right lower quadrant). The rectal examination was normal. The amount of urine output was normal. Patients were treated with liquid therapy, and intravenous antibiotics were changed to moropenem and vancomycin. Patient tests: serum electrolytes (sodium and potassium), blood gas analysis, coagulation tests, liver and kidney function tests, vidal test and Albumin were normal.
Some of the patient's laboratory results were as follows:
In addition, he had hypocalcemia and Hypomagnesemia and were treated with sepsis as a common symptom. Due to biliary secretion from the stomach tube, bloody diarrhea, tenderness and abdominal distension, abdominal ultrasonography was performed with suspicion of obstructive problems such as enuresis and acute appendicitis.
Ultrasound findings favored the diagnosis of acute appendicitis: insignificant free fluid in the space between the interleuk and a non-compressible appendix of 65 mm in the lower right quadrant of the abdomen was evident. The patient underwent appendectomy (Figure ). One day after the surgery, the child was alert (Glasgow Coma Scale /Score GCS = 12), but the fever continued. Metronidazole and intraperitoneal ciprofloxacin were administered. Two days after the commencement of these antibiotics and appendectomy, the patient's alertness became normal, and the general condition was satisfactory with erythrocyte sedimentation reaction (ESR) = 32, and platelet count and white blood cell count increased. A pathological report of acute puffiness appendicitis with peri appendicitis confirmed. After two weeks, the patient was discharged with a good general condition. |
pmc-6406384-1 | A 24-year-old African American male with a past psychiatric history of PTSD and anxiety, and multiple past psychiatric hospitalizations, was admitted to the adult inpatient psychiatric unit for homicidal ideation, with intent or plan. On day one, the patient was calm and cooperative and denied depression, suicidal or homicidal ideation, or auditory or visual hallucinations. He reported being sexually, physically, and emotionally abused by his mother’s live-in boyfriend at the age of eight. He had a past medical history of seizures and was on phenytoin 400 mg twice daily and valproic acid 2000 mg twice daily.
During his hospital course, the patient experienced multiple episodes of seizures, with a cluster event of five seizures in 20 min on the third day. The patient’s valproic acid dosage was titrated to 3000 mg twice daily. He remained in a postictal state for a brief period following the seizures, with urinary incontinence. Lorazepam 2 mg intramuscular was administered stat (immediately) with each episode, and the patient was placed on every 15 min check (Q15) and one-to-one observation for seizure monitoring. Emergency medical services (EMS) were called multiple times, and work-up of complete blood count (CBC), prolactin level, thyroid-stimulating hormone (TSH) level, and complete metabolic panel (CMP) revealed results within normal ranges. EEG showed no focal slowing and no epileptic activity. The resting background rhythm was normal, and the patient was suspected of having PNES. The 24-h video-EEG did not show any abnormal activity during the paroxysmal events, confirming the seizures were non-epileptic.
It was recommended to undergo supervised withdrawal of antiepileptic drugs and start CBT, as the seizure-like activity was thought to be psychological in origin. The etiology and treatment approach for PNES were carefully explained to the patient. CBT was initiated, with one session per week for ten weeks. The therapy primarily focused on trauma and aggression. It was discussed how the patient’s thoughts impacted his emotions, behavior, and decision-making. He was encouraged to monitor his thoughts and feelings and how they influenced each other. Coping skills that can be used when the patient experiences nightmares and flashbacks were also discussed. The patient was encouraged to process his thoughts and feelings through story-writing, journaling, and music. Thinking errors were further reviewed, and the patient’s tendency to assume what others were thinking and feeling were discussed, with the aim of helping the patient deal with problematic events in a more effective manner. As the CBT sessions continued, the patient’s frequency of seizures gradually reduced from seven times per week to four times per week mid-way through therapy sessions, and finally zero times weekly at the completion of the ten therapy sessions. With the improvement in PNES symptomatology as well as patient’s insight and judgment, he was discharged with a scheduled outpatient neurology follow-up. |
pmc-6406487-1 | A 9-year-old girl was referred to a tertiary care pediatric weight management clinic (PWMC) by her primary pediatrician for worsening obesity, with a BMI of 32.5 kg/m2 (1.4 × the 95th BMI percentile for age/gender). The patient’s weight progressed to the higher end of the pediatric growth curve early in life. For 2 years prior to presentation at PWMC, the patient’s weight had been of highest concern with perceived triggers related to parental divorce, the stress of two households, and emotional eating. Her lipid levels were significantly elevated. The patient had a moderate activity level (school physical education classes, horse-riding therapy, and daily walking). Her diet included frequently eating outside the home, drinking soda every other day, and low intake of fruits and vegetables. Water intake was limited. The patient’s parents (divorced) shared custody and the patient spent time in two households during the week. Her screen time averaged 3 h per day.
Birth history revealed a normal vaginal delivery without complications with a birth weight of 3.95 kg (large for gestational age) and length of 50.80 cm. The patient underwent neuropsychiatric evaluation at the age of 6 years for developmental delay and autism spectrum diagnoses; physical and occupational therapies were provided through early school age years. Her family history was positive for obesity on the maternal side; diabetes, heart disease and hyperlipidemia were diagnosed on both paternal and maternal lineages.
A review of the patient’s systems revealed normal menarche and menstrual cycles. The patient denied snoring, headaches and frequent nocturnal awakenings, although she admitted to restless sleep and feeling tired.
Her vital signs were normal for her age, gender and height (BP 110/50, pulse 88) with a normal physical examination except for central obesity in the absence of lipodystrophy. There was no evidence of the syndromic features of obesity or acanthosis nigricans. Mild developmental delay was present as documented by prior evaluations. Between the ages of 9 and 16 years, the patient was continuously followed in PWMC, with focus around intensive lifestyle treatment. By the age of 16 years, the patient’s weight had approached 273.8 pounds with a height of 63 inches and a BMI of 48.68 (1.58 × the 95th BMI percentile; Class 3 obesity), BP of 116/70 (normal range for age/gender/height), and Tanner stage 5.
Laboratory evaluation at initial presentation revealed total cholesterol of 375 mg/dL, LDL 293 mg/dL, triglycerides 125 mg/dL, HDL 57 mg/dL, fasting blood glucose of 90 mg/dL, TSH 2.83 mIU/L, fasting insulin level of 10 uU/mL, vitamin D-25-hydroxy level of 17 ng/mL, and ALT 15/AST 18 units/L. A repeat laboratory panel after the patient was started on a statin medication (simvastatin 10 mg increased over time to 40 mg) by her lipid specialist showed an overall improvement in her lipid profile (in mg/dL): total cholesterol of 203, LDL 137, triglycerides of 62, and HDL 54. Vitamin D-35-hydroxy levels had improved to 28 ng/mL with supplementation. Repeat fasting blood glucose and hemoglobin A1c remained stable as a teenager at 88 mg/dL and 5.4% respectively. A polysomnogram at the age of 15 years showed an apnea-hypopnea-index (AHI) of 1.1, indicative of mild sleep apnea.
A 16-year-old girl with severe childhood obesity (>1.4 × the 95th BMI percentile) since the age of 9 years, with related comorbidities and resistance to ILT, presented to the PWMC. Since initial presentation to the PWMC, the patient progressively deteriorated during adolescence despite ILT in a tertiary care pediatric weight management center. The significant psychosocial barriers to care included the diagnosis of developmental delay/autism and milieu instability.
The initial treatment at PWMC involved ILT goals focusing on replacing sugar sweetened beverages with water and zero sugar options, building on physical activity, increasing fruit/vegetable consumption as well as MyPlate model [] for portion sizes. Screen time and the consistency of time between households were addressed with emphasis on limiting processed food choices when eating outside the home. The BMI% trajectory trend showed stabilization over the first year. However, despite ILT, the patient’s BMI% continued to demonstrate an upward incline after the age of 10.5 years ().
The overall minimal response to ILT and upward trends on BMI% were again discussed with the family when the patient reached 16 years of age. Prior records were reviewed including the early neuropsychiatric evaluation and current school performance. Despite some resource assistance at school, the parents and patient both noted increased anxiety at school as demands increased with school year progression. The signs and symptoms of emotional eating were then addressed. The patient’s mother reported that when the patient was old enough to walk home from school, she often stopped at the local store to buy food. The patient’s mother also noted that she limited food shopping as multiple days of food were being consumed within a day or two. The evaluation of binge eating disorder (BED) using the BED scale [] and Attention Deficit Disorder (ADD) using the Vanderbilt scale [] revealed positive results of both tests and confirmed the diagnosis respectively (the BED score of 21 and the Vanderbilt score indicated Attention Deficit-Inattentive type). The patient was evaluated and followed closely with a pediatric psychologist/developmental specialist and underwent concurrent cognitive behavioral therapy.
Given the disease progression coupled with the comorbid obesity-related conditions and the limited response to ILT, the PWMC team felt that a more aggressive treatment plan of the patient’s severe obesity was indicated and imperative. Although the patient met the criteria for MBS [], the patient and her mother declined surgical intervention despite engaging in discussions on this topic. Moreover, MBS services were non-existent within a 200 mile radius and surgical intervention would require significant travel to the nearest adolescent surgery tertiary care center. As a result, PWMC clinicians opted for a pharmacotherapy trial of lisdexamfetamine to address both BED and ADD in the setting of severe adolescent obesity, initially starting at the lowest dose of 20 mg once daily as recommended for ADD. The only two FDA-approved anti-obesity medications with concurrent pediatric indications (orlistat and phentermine) and other available off-label and FDA-approved anti-obesity pharmacotherapy for adults [] (metformin, topiramate, zonisamide, naltrexone SR/buproprion SR, lorcaserin, liraglutide 3.0 mg) did not meet the requirements needed to address both BED and ADD. Significant family counseling discussing the pros and cons of using lisdexamfetamine, including medical literature references, occurred during multiple visits at PWMC, and all the risks were discussed and side effects were reviewed. Off-label consent was documented for BED, although the patient met criteria for use of this medication due to her ADD diagnosis [,]. tracks the progression of her weight, dosage changes, and clinical changes over time on lisdexamfetamine. After one year of treatment on lisdexamfetamine, the patient lost a total of 39.4 lbs, with a reduction of BMI from 48.49 to 40.91 (decrease from 1.65 × to 1.35 × the 95th BMI percentile) on 50 mg lisdexamfetamine once daily ( and ). Repeat polysomnograms showed improvements in AHI down to 0.3 (previous 1.1) and repeat BED scales showed improvement from 21 to 5. The patient reported significant improvements in school performance and social anxiety. Pharmacotherapy, as an adjunct to healthier eating habits and lifestyle, helped reduce binge eating episodes as reported by the patient and family.
Written informed consent was obtained from the patient for the publication of this article and accompanying table. |
pmc-6406768-1 | A 60-year old man was diagnosed with CLL. He underwent extensive courses of CLL treatment, which included chlorambucil, prednisone, fludarabine, rituximab, cyclophosphamide, bendamustin, ofatumumab, and lenalidomide.
Nine years later, hypogammaglobulinemia and recurrent respiratory infections were noted, and monthly intravenous immune globulin (IVIG) infusions were started. Four years later, progressive generalized lymphadenopathy with bulky retroperitoneal masses, weight loss and malaise were attributed to progressive CLL, and monthly infusions of obinutuzumab were given. Five months later, the patient presented with edema and pain of his right leg, along with painful swelling in the right groin despite regression of the generalized lymphadenopathy. Computed tomography (CT) showed a significant increase of the retroperitoneal lymph node masses and a new, contrast-enhancing fluid collection in the right psoas muscle extending to the groin (). Bacterial culture of a CT-guided inguinal node biopsy specimen remained sterile, while broad spectrum mycobacterial PCR, M. avium-specific PCR, and mycobacterial culture were all positive for M. avium. Histological examination showed necrotic, histiocyte-predominant inflammation with numerous acid-fast bacilli but no evidence of Richter’s transformation to an aggressive lymphoma. External catheter drainage of the abscess was done for 8 weeks. CLL treatment was interrupted.
The isolate was susceptible in vitro to clarithromycin and rifampicin (minimal inhibitory concentrations, 4 mg/L and 20 mg/L, respectively). Therapy with rifampicin 600 mg/day, ethambutol 1000 mg/day and clarithromycin 500 mg/day was given. The second cycle of obinutuzumab was delayed by three months due to the infectious complication. The third cycle was started on time but was terminated early due to progression of the CLL. Eight months into M. avium therapy, complete remission of the abscess without any relapse were noted on CT. However, generalized lymphadenopathy re-appeared. M. avium treatment with rifampicin, ethambutol, and clarithromycin was continued and ibrutinib was started, which again led to a major response of the lymphadenopathy. The initial dose of ibrutinib was reduced to 280 mg due to low blood counts and the risk of potential drug interactions with increased blood levels of ibrutinib. The second and third cycles of ibrutinib were started with 420 mg for 2 weeks and reduced to 280 mg for the rest of the cycle due to low platelet counts. Later cycles were given at the standard dose for CLL, i.e., 420 mg without evidence of enhanced hematotoxicity despite the combination with the antimycobacterial agents. Blood level measurements for ibrutinib were not done.
Unfortunately, the patient died 10 months after initiating antimycobacterial treatment, in the setting of massive pleural hemorrhage and bleeding into the mediastinal lymph nodes. At autopsy, no macroscopic or histological evidence of the infection with M. avium was found in the area of the original abscess or elsewhere. |
pmc-6407075-1 | A 52-year-old Caucasian woman with no significant previous medical history was referred to the Breast Unit of the 2nd Department of OB/GYN, University Hospital of Bratislava, Slovakia, for assessment of a palpable lump in her right breast. Physical examination revealed a superficial, 1.5‑cm lump, located in the lower, inner quadrant of the right breast with clinically negative axillary lymph nodes. Mammography suggested a lobulated, radiopaque 1.5-cm lesion with mostly sharp contours and halo sign (A,B). Breast ultrasonography revealed an round-shaped, low-echoic tumor of unclear etiology (C) with a pathological pattern of blood flow, as seen on Power-Doppler imaging (D). The results of breast imaging examinations were classified as BI-RADS 4b. Infiltrating ductal carcinoma could not be excluded. A ultrasound-guided large-core-needle biopsy was performed and histologic diagnosis of a SBC was supposed. The patient underwent breast conserving surgery with sentinel lymph node biopsy.
Histological evaluation of the surgical specimens showed monoform tumor cells with eosinophilic cytoplasm with vacuoli and thyroid-like pseudofolicles, round nuclei with intermediate mitotic activity (MAI 10 MF/10 HPF) (A). The tumor presented with focally infiltrative growth without in situ component. The immunohistochemistry (IHC) showed periodic acid–Schiff (PAS) positive secretory material in intra- and extracellular spaces (B) and negative results for estrogen, progesteron and HER2 receptors. The tumor was positive for cytokeratins 5, 14 and c-Kit protein (CD117) (C,D). There was also diffuse IHC positivity for S100, MUC4, EMA, and scattered positivity for gross cystic disease fluid protein 15. Pan-TRK staining was provided to detect possible neurotrophic tyrosine receptor kinase (NTRK) fusions. Resections margins of more than 10 mm were tumor-free and two sentinel lymph nodes were found to be free of metastases. A dual color break apart probe (SureFISH®, Agilent, St.Clara, USA) was used for fluorescence in situ hybridization (FISH) evaluation of NTRK3 (15q25.3) gene (E). The ETV6-NTRK3 gene fusion was confirmed through FusionPlex® assay kit for solid tumors (ArcherDX, Inc, Colorado, USA). Next generation sequencing (NGS) analysis was used for schematic visualisation of detected fusion transcript ETV6-NTRK3 together with information about the depth of reading of studied area (F).
The post‑operative course was uneventful and the patient was discharged home on post‑operative day 4. The patient received adjuvant radiation therapy with a total dose of 50 Gy in 26 fractions. She now 22 months post‑surgery and remains disease‑free. |
pmc-6407187-1 | An 87-year-old man from Switzerland with German ethnic origin suffered from symptoms of osteoarthritis of the knee. Preoperatively, there was no suspicion of infectious arthritis. The typical symptoms of osteoarthritis of the knee were present. A routine laboratory test regarding infection parameters (leukocytes, erythrocyte sedimentation rate, C-reactive protein) was without pathological findings. He is a farmer. He grew up on a farm and lived there all his life. He had consumed raw (unpasteurized) milk for years. There was daily contact with animals including cattle. A history of BCG vaccinations was negative. A trip abroad during which an infection could have occurred could be excluded.
The diagnosis was clinically and radiologically confirmed (Fig. a). He had chronic obstructive pulmonary disease (COPD) stage II and atrial fibrillation, and was diagnosed as having deep vein thrombosis some years earlier. No malignant disease or immunodeficiency was known. In November 2014, a TKA was performed: implant, Mathys (Bettlach, Switzerland) balanSys®, Femur D (cemented), Tibia 80 (cemented), Polyinlay 8 mm MB rotating. The initial postoperative course was normal. Our patient was discharged from hospital after 8 days. We observed persistent swelling of the knee and persistent wound scab. An aspiration was performed in February 2015, the routine culture was sterile. Two superficial wound debridements were performed in March and April 2015. Following the second debridement, Staphylococcus epidermidis and Corynebacterium were identified. Antibiotic therapy with co-trimoxazole was initiated, there being no antibiotic-free interval. Due to ongoing wound secretion a third wound debridement was performed in May 2015. A defect of the joint capsule was found. We assumed a prosthetic joint infection starting from the wound healing disorder and undertook a one-stage knee replacement. Intraoperatively, there was no osteolytic bone lesion. Taking into account the expected bacterium and considering existing prosthetic material, antibiotic therapy with vancomycin was started. Tissue samples were obtained and prosthesis sonication was performed. Coagulase-negative staphylococci were detected, and rifampicin (RMP) and clindamycin were given for 3 months. The wound healed after another superficial revision. Eventually, a subcutaneous seroma occurred. Several aspirations were performed, yielding high cell counts (up to 13,000/ml, ≥ 85% neutrophil granulocytes), while routine culture was sterile. Because of the persisting effusion and inflammation, a scintigraphy was performed, which demonstrated enhancement in his distal femur (Fig. b).
Because of the persistent inflammation, we decided to perform a knee replacement arthroplasty in two stages. The prosthesis removal was successful and a usual gentamycin Palacos® spacer was implanted in September 2016. We performed tissue sampling and sonication of all implant parts. The materials taken intraoperatively were among others cultured in a liquid medium (BACTEC™ MGIT 960) and on solid media (Löwenstein-Jensen, Middlebrook 7H10-Selective 7H11). The cultures were incubated for 8 to 16 weeks. M. bovis was detected in tissue samples. A resistance test was performed for the mycostatic drugs isoniazid (INH), RMP, ethambutol (EMB), and pyrazinamide (PZA). Moreover, C. guilliermondii was found by implant sonication. Consequently, the antibiotic therapy was adapted and our patient received RMP, INH, and EMB for 3 months, together with fluconazole for 6 weeks because of the Candida infection. After implant removal, he developed a wound healing disorder, with a fistula anterolateral to the operational area (Fig. c). Therefore, we performed coverage by a pedicled gastrocnemius flap using a split-skin graft. During the above-indicated defect coverage, tissue samples were again collected. Neither Mycobacteria nor Candida were detected.
Ten weeks after prosthesis removal, reimplantation was performed (Fig. d) under ongoing antimycobacterial drugs, involving revision TKA: Mathys (Bettlach, Switzerland) balanSys® REVISION, Tibia Stem 140 mm 18 mm Offset 4/11, Tibia Plateau size 75, PE Inlay 18, Femur Stem 140 mm 20 mm, Size C, REV Augmentation 10 medial. We stopped antimycotic treatment after negative culture results. The duration of tuberculostatic therapy was maintained 1 year from revision with RMP, INH, and EMB.
The postoperative course was normal and he achieved ambulant musculoskeletal rehabilitation. After 14 months of follow-up no further complication emerged. At routine follow-up consultations, there were no indications for joint inflammation, wound healing was normal, and the range of motion was flexion/extension 110/0/0°. (For timeline compare Table .) |
pmc-6407215-1 | A 52-year-old North African man, who smokes 30 packs of cigarettes per year, consulted for intermittent total and clotting hematuria for 2 weeks, without other functional complaints. He has no particular medical history. He was operated on at the age of 5 for bilateral cryptorchidism.
A physical examination was normal. There was no localized tenderness and no palpable mass in the lumbar fossae. His prostate was painless, without suspect lesions. His hemoglobin level was 13 g/dl. His platelet level, homeostasis, and renal function were normal. Urine analysis was sterile, with red blood cells in direct examination. Prostate-specific antigen was at 1.09 ng/ml.
On ultrasound, there were no suspect bladder lesions. An enlarged hypoechoic mass of the upper pole of his right kidney, extended by a dilated ureter, was observed. A suspect hypovascularized intraluminal papillary tumor in the right lumbar ureter was also noticed. The lower pole of his right kidney had a normal aspect, and was extended by a non-dilated ureter, suspicious for a double excretory system.
A computed tomography (CT) scan confirmed the right ureteral duplicity with a destroyed upper pole (Fig. ). The ureter of the upper system was dilated, with an endoluminal tumor of 20 mm, at the height of the L4–L5 disc, partially calcified and highly enhancing following contrast injection (Fig. ). The lower system had conserved secretory and excretory functions, and was itself a seat of ureteral bifidity with a common terminal ureteral segment coming into the bladder. There was also a left ureteral bifidity, with two systems secreting and excreting normally, without suspect lesions of the excretory tract (Fig. ).
An MRI was performed to define precisely the tumorous ureter orifice. The drainage ended in the prostatic right lobe without any parenchymal lesions observed (Fig. ).
Cystoscopy under anesthesia was normal. The two meatuses were of normal seat.
A right ureteroscopy confirmed the ureteral bifidity, with no macroscopically suspect lesions. The ureter ending in the right upper tract was not visible at the prostatic urethra.
Our patient underwent surgery by a double incision: a right posterolateral lumbar incision, followed by a right iliopubic incision. A hemi-nephrectomy of the upper system of the right urinary tract was performed, going as low as possible on the ectopic ureter.
The iliopubic approach enabled us to dissect and release the ureter throughout its length, up to the prostatic apex. The section of the ureter was as close as possible to the prostatic capsule. An aspirative drainage of the lumbar fossa and the retropubic space was left at the end of the intervention.
His postoperative course was uneventful. The drains were withdrawn on the third postoperative day. He left the hospital on the fifth postoperative day.
A histological examination concluded a unifocal infiltrative transitional cell carcinoma, classified pT2G2. There was no lymphovascular invasion or vascular emboli. The lower ureteral section was free from any tumor proliferation.
At 2-year follow-up, there were no clinical or radiological signs of local or distant recurrence. He did not present hematuria recurrence, urinary troubles, or sexual troubles. A thoraco-abdomino-pelvic scan performed every 6 months during follow-up was without anomalies. |
pmc-6407224-1 | A 40-year-old Japanese man was admitted to another hospital with edema of both lower extremities, a feeling of abdominal fullness, and shortness of breath upon exertion. A physical examination showed a giant splenomegaly that reached the pelvic cavity and hepatomegaly. The patient’s leg edema was thought to be caused by the giant splenomegaly. A blood test showed an elevated white blood cell count of 480,000/μL. According to a bone marrow examination, he was diagnosed with CML, and dasatinib at a daily dose of 100 mg was prescribed.
CML was improved with the use of dasatinib therapy, with a decreased volume of splenomegaly and leg edema. However, 1 month after dasatinib was introduced, heavy proteinuria (urinary protein-creatinine ratio of 8.93 g/g creatinine [g/gCr]) appeared, accompanied by a low serum albumin level of 2.3 g/dL. Two months after dasatinib was introduced, the drug was transiently stopped because of pancytopenia, and then the drug was restarted. The patient was referred to our hospital for a further investigation for nephrotic syndrome after dasatinib was used for 3 months.
On admission, a physical examination showed a blood pressure of 121/70 mmHg, pulse of 56/min, temperature of 36.5°C, and respiratory rate of 16/min, as well as slight splenomegaly and lower leg edema. A complete blood count test showed a white blood cell count of 11,500/μL, hemoglobin level of 13.2 g/dL, and platelet count of 132,000/μL. Blood chemistry and serology tests showed a serum creatinine level of 0.87 mg/dL (estimated glomerular filtration rate of 78.4 mL/min/1. 73m2), serum albumin level of 3.08 g/dL, total cholesterol level of 287 mg/dL, and low-density lipoprotein cholesterol level of 166 mg/dL. In addition, antinuclear antibody and viral hepatitis were not evident in a serological test. A spot urine examination showed protein/creatinine ratio of 12.2 g/gCr, urinary protein 3+, and hematuria 1+. Urine sediment showed 5–9 red blood cells/high-power field and hyaline casts. Ultrasonography showed that the kidneys were almost normal-sized. A percutaneous kidney biopsy was performed, and light microscopy with periodic acid-Schiff staining revealed diffuse and global endothelial cytoplasm expansion that was accompanied by focal duplication of the glomerular basement membrane (Fig. a). However, spike formation was not evident in the periodic acid-methenamine silver-stained section test (Fig. b). An immunofluorescence study did not show deposition of immunoglobulin or its complement. Electron microscopy revealed swelling of the endothelial cells (Fig. c) and effacement of the podocyte foot process (Fig. d). In addition, randomly arranged fibrils (10–20 nm) were observed in the mesangial, subepithelial, and subendothelial regions (Fig. d and e), but their distribution was relatively focal. AA amyloidosis was deemed unlikely because of negative Congo-red staining and immunohistochemistry (Fig. a). In addition, negative immunohistochemistry for DNAJB9 did not suggest the diagnosis of fibrillary glomerulonephritis (Fig. b). We thought that these renal histological changes were caused by dasatinib, but the cause and diagnosis of fibril were not evident.
We switched from dasatinib therapy to nilotinib at a daily dose of 600 mg. The patient’s spot urine protein/creatinine ratio improved to 0.63 g/gCr and his hematuria disappeared within 2 weeks. His renal function did not worsen. We concluded that the main cause of nephrotic syndrome was dasatinib because only switch of the drug improved the patient’s proteinuria. He was discharged from our department on the 25th day after hospitalization, without any aftereffects. |
pmc-6407226-1 | A 62-year old man was referred after the discovery of multiple CAAs. The patient, known for hypertension, hypercholesterolemia, and weight excess, presented, as unique symptom, a 4-months history of progressive chest pain aggravated by physical activity. He had no history of coronary artery or connective tissue disease. There was no history of trauma either. Catheterization showed an atypical coronary artery ectasial disease with the presence of multiple CAAs: the RCA was dilated at three different levels, including the largest aneurism estimated at 6 cm (Fig. a,b, Additional file : video 1 and Additional file : video 2). Another aneurism of 3 cm was localized on the intermediate left coronary branch. Left ventricular ejection fraction was normal. No other arterial disease was found during investigations.
The operation was performed under central cardio-pulmonary bypass and cardiac arrest by cold crystalloid cardioplegia. Intraoperative, we found two proximal RCA CAAs of 2 cm each, a 6 cm distal RCA GCAA partially thrombosed (Figs. and ), and a 3 cm CAA on the intermediate branch.
The two largest CAAs were opened, until reaching a normal proximal and distal vessel diameter, resected and inflow ligated. Because of severe calcification the outflow was closed by a pericardial patch, to avoid fragments embolization that ligation could produce. Two saphenous graft bypasses were performed. |
pmc-6407268-1 | A 70-year-old man of Kumbo origin from the Northwest region of Cameroon was admitted to a rural mission hospital in Cameroon with a history of crampy right lower-quadrant abdominal pain, nonbloody, nonmucoid diarrhea alternating with constipation for the last 5 days. Anorexia and low-grade fever were observed, but no weight loss. Abdominal examination revealed the features of acute intestinal obstruction with an ill-defined mass in the right iliac fossa (RIF) and visible peristalsis. A chest radiograph was essentially normal. An abdominopelvic ultrasound scan showed dilated bowel loops and an RIF mass. An abdominal plain radiograph showed multiple air-fluid levels and dilated bowel loops. An abdominal computed tomographic (CT) scan and barium enema study confirmed a complex ascending colonic and cecal tumor. The patient had a markedly raised white blood cell count of 40,300 cells/ml. The C-reactive protein was significantly elevated, and results of the tuberculin test and Genexpert test for tuberculosis were both negative. The patient’s blood pressure was 129/78 mmHg, and his pulse rate was 60 beats/min. He also had pyrexia (− 37.9 °C). In view of acute intestinal obstruction, exploratory laparotomy was performed after routine investigations. The intraoperative finding was a huge complex inflammatory mass involving the cecum, terminal ileum, and sigmoid colon. The patient subsequently had a sigmoidectomy with end-to-end sigmoidorectal anastomosis and a cecal resection, and the proximal ascending colon was exteriorized because end mucoid fistula and terminal ileostomy were performed. Figure is a postoperative photograph showing the ileostomy and disposable stoma bag. Figure is the immediate postoperative photograph of the resected complex mass involving the cecum, terminal ileum, and sigmoid colon. Histopathological examination of the resected specimen showed macroscopic appearance of a complex large mass (Fig. ) involving the cecum, sigmoid colon, and terminal ileum, with congested swollen mucosa interspersed with diffused, irregular ulcerations with a cobblestone appearance (noncaseating granulomas in all layers of bowel wall from serosa to mucosa). Also, multiple fissures were present, as well as perforation and fistula seen between adjourning bowel loops, but no significant IBD was observed in nonulcerated mucosa. Microscopically, prominent and enlarged lymphatic follicles, proliferation of muscularis mucosa, and formation of fissures extending from mucosa to serosa along with gross edema. Marked infiltrates of inflammatory cells involved all the bowel layers; the details are depicted in Fig. . Therefore, histopathological diagnosis of CD was made. The postoperative period was uneventful. Thereafter, the patient received five courses of adjuvant chemotherapy consisting of azathioprine (AZA), methotrexate (MTX), mesalamine, and methylprednisolone. He had complete disease remission and subsequently underwent closure of the ileostomy with satisfactory postoperative status. The most recent follow-up abdominal CT scan and colonoscopy revealed disease-free status. The patient is also currently receiving a maintenance dose of rectal mesalamine and oral omeprazole treatment. He has been followed every 2 months in the surgical outpatient clinic over the last 16 months with a satisfactory clinical outcome. |
pmc-6407718-1 | A 45-year-old man presented to the emergency department (ED) complaining of a headache around his left eye. This had started 48 hours prior to consulting, and he explained that he had had migraine headaches that were different than this pain, in both their pattern and character of pain. He had not slept since the onset of the pain. He described this headache as a recurrent brief and severe lancinating pain, lasting only seconds, and occurring at three- to five-minute intervals. Each episode of pain, although brief, was so severe that he was unable to function with his symptoms. He had complete resolution of pain between episodes with no background symptoms. There were no other associated symptoms such as fever, chills, nausea, or vomiting. During or between paroxysms, he did not have autonomic symptoms or any other neurological symptoms, and he had not noticed any exacerbating or alleviating factors. He reported no shoulder girdle stiffness or general malaise, his appetite was preserved, and he had not had jaw claudication. The patient had not had any type of trauma. There was no reported alcohol or illicit drug use. The patient had a past medical history positive for migraines, and he was not taking any prescribed or over-the-counter medications.
At triage, the physical assessment revealed normal vital signs, visual acuity, glucose, and mentation. On physical examination, he was not distressed at baseline, however, during the episodes, his pain caused him significant distress. The examination of his eye was normal with no conjunctival injection. His cranial nerve examination was normal, as well as his peripheral neurological examination. The examination of his ears, nose, and throat was normal. No headache trigger zones were located around his mouth, ears, eyes, or scalp. He did not have tenderness in the temporal region on palpation, and temporal pulsations were normal. The skin on his face and head was intact without erythema, blistering, altered sensation, or tenderness. Routine blood work (complete blood count (CBC), glucose, electrolytes, blood urea nitrogen (BUN), creatinine, erythrocyte sedimentation rate (ESR)) was within normal limits. No imaging was obtained at this visit.
Due to the character and pattern of this pain, a presumptive diagnosis of ophthalmic branch TN was made, and treatment with carbamazepine was initiated. An outpatient ophthalmology appointment was arranged, and he was discharged home with instructions to return to the ED if he were to develop a fever, worsening headache, neurological symptoms, or a rash. At his follow-up visit with the ophthalmologist 72 hours later, he remained symptomatic, however, he has been able to sleep and function better since having initiated treatment. An unenhanced CT scan of the head was obtained, which was normal. No further testing was deemed necessary, and a diagnosis of ophthalmic branch TN was confirmed. Symptoms continued to resolve over the next week with ongoing treatment with carbamazepine. |
pmc-6407719-1 | A 56-year-old male patient, an ex-smoker, non-alcoholic with a past medical history of hypertension, coronary artery disease, end-stage renal disease, and adrenal insufficiency, presented for fever secondary to left foot cellulitis of one week's duration. His past surgical history was significant for a Billroth II surgery one-year prior to presentation for a bleeding peptic ulcer. The patient was started on cefazolin after which he improved clinically and was planned to be discharged four days after hospitalization.
One day prior to discharge, he developed an episode of hematemesis. Gastroscopy showed a normal esophagus, normal-appearing afferent and efferent limbs, and mildly localized erythema at the level of gastrojejunal anastomosis with no evidence of blood or recent bleeding. However, the patient had several episodes of hematemesis and melena the next day which was complicated by hemorrhagic shock. After resuscitation, an urgent gastroscopy was done again which showed active bleeding in the efferent loop and a visible vessel at the level of the cardia that was clipped and injected with adrenaline.
Later on, during the same day, the patient again developed massive hematemesis associated with melena. An urgent computed tomography angiography (CTA) of the abdomen/pelvis was done which showed extravasation of the contrast material near the head of the pancreas that could represent a hemorrhagic site at the efferent segment, as well as a 2.5 cm bleeding pseudoaneurysm at the gastroduodenal artery (Figures -).
An urgent laparotomy was done, and a bleeding pseudoaneurysm of the gastroduodenal artery was identified. Vessel ligation was successful in controlling the source of bleeding, and the patient was discharged home a few days later. |
pmc-6408024-1 | Approval was obtained from the Ethics Committee of the First Affiliated Hospital, College of Medicine, Zhejiang University for reporting of this case.
A 57-year-old female was diagnosed with thyroid cancer following a biopsy and underwent a radical thyroidectomy. Two years prior, the patient had been diagnosed with AAV complicated with DAH after developing hemoptysis, anemia, and an increased erythrocyte sedimentation rate. At that time, a large dose of methylprednisolone (500 mg/day intravenously for 3 days) was administered. The intravenous infusion of methylprednisolone was then gradually reduced. Her condition gradually improved approximately 2 weeks after treatment initiation, and her serum creatinine remained within the normal range (50–60 μmol/L (0.57–0.68 mg/L)). Following this, the patient was prescribed oral prednisone, with the dose gradually reduced to 10 mg/day for maintenance. One month before surgery, she developed fatigue, hematuria, and proteinuria, and her serum creatinine was 278 μmol/L (3.1 mg/dL). She was diagnosed with renal lesions caused by AAV. Lung fibrosis was noted on a computed tomography (CT) scan performed at that time (Fig. A). High-dose methylprednisolone was administered again (500 mg/day intravenously for 3 days and then gradually reduced), and a total of 1.0 g of cyclophosphamide was also intravenously infused twice (0.5 g at a time). Following this, the patient was prescribed oral prednisone, with the dose gradually reduced. The prednisone dose was 35 mg/day before surgery.
Although serum perinuclear ANCA was only positive once in the month before the surgery in this case, and serum cytoplasmic ANCA was not detected, the diagnosis of AAV was pathologically confirmed by renal biopsy about 1 month before surgery. In this time period, there were 2 instances where the anti-myeloperoxidase antibody was 2 times higher than the upper limit of detection (2 years before surgery and 1 month before surgery), whereas the anti-protease 3 antibody remained within the normal range. Enzyme-linked immunosorbent assay was used to detect all above-mentioned antibodies.
In the comprehensive examination performed owing to impaired renal function 1 month before surgery, B-ultrasonography revealed a thyroid mass. Based on the biopsy results, the patient was diagnosed with papillary thyroid cancer; therefore, surgery was performed. The patient had no hemoptysis or shortness of breath before the operation and there was no abnormality noted during lung auscultation. Chest X-ray examination found no abnormality. The serum creatinine level was 216 μmol/L (2.4 mg/dL).
On the day of surgery, the prednisone dose was administered, and 40 mg methylprednisolone was injected intravenously before induction of anesthesia. The ID 7.0 mm tracheal tube was inserted under general anesthesia, and radical thyroidectomy was successfully completed in approximately 2 hours. The patient regained consciousness at the completion of the operation and the endotracheal tube was removed immediately.
The patient developed dyspnea and wheezing 30 minutes after tracheal extubation. In order to exclude an injury of the recurrent laryngeal nerve from thyroid surgery, a video laryngoscopy was performed. This showed normal vocal cord activity; however, for the prevention of laryngeal edema, methylprednisolone 40 mg was administered intravenously. Auscultated lung sounds were loud, and the patient was sent to the intensive care unit for further observation and treatment.
On the first day after surgery, hemoptysis occurred with dyspnea. Large-flow oxygen inhalation was required to maintain an oxygen saturation of approximately 90%, and non-invasive ventilation was required for 2 days postoperatively. Dyspnea gradually improved 2 days after surgery with administration of methylprednisolone (240 mg/day), atomization inhalation, and hemostasis treatment. Hemoptysis gradually reduced 5 days after surgery. Five days after the surgery, methylprednisolone was increased to 500 mg intravenously every day for 3 days, and a total of 1 g of cyclophosphamide was administered intravenously twice (0.5 g at a time). The hemoptysis disappeared approximately 2 weeks after surgery.
The CT scans from 2 days and 2 weeks postoperatively are shown in Figure . AAV was diagnosed based on the patient's medical history, clinical symptoms, and the CT examination performed 2 days postoperatively, which found high-density shadows in the lungs (Fig. B). High-density shadows were less evident in the CT scan 2 weeks after surgery (Fig. C). In the CT examination from 2 days after surgery, 3-dimensional reconstruction of the airway was performed to rule out dyspnea caused by an abnormal airway. No abnormality was found. Fortunately, during this postoperative episode of DAH, no further impairment of renal function was observed, as no significant change in urine output or serum creatinine occurred. Serum creatinine changes are shown in Figure . |
pmc-6408026-1 | A 25-year-old gravida 1 para 0 woman at 35.6 weeks of pregnancy who weighed 57 kilograms was admitted to our hospital because of irregular uterine contractions. The patient had been buried for 48 hours in the ruins after an earthquake. She had undergone more than 30 surgical procedures within the previous 6 years. Her legs and abdomen were severely injured in the earthquake. She underwent left, total leg and right below-knee amputations, left hip resection due to clostridial necrotizing fasciitis, transverse colostomy, cystic and vulvar reconstructions, and colostomy reversal surgery approximately 2 years before becoming pregnant. In addition, she also suffered from spinal shock after the accident. Her sensory and motor function below the level of T10 did not recover until 8 months later. In addition, the patient had progressed to a chronic stage in which her reflex activity was regained. This stage was characterized by disuse atrophy, flexor spasms, and exaggerated reflexes.[ To bear the weight of her body, she had to sit, lie down, or lie on her side. As a result, the uneven distribution of the stress caused compensatory changes in her spine, leading to severe scoliosis.
This patient had 2 episodes of congestive heart failure during her previous surgical interventions that required hospitalization in an intensive care unit (ICU). When she was admitted to our hospital, the fetal heart rate and movement were monitored closely. Dexamethasone was used to promote fetal lung maturation. At 36.4 weeks of gestation, her uterine contractions became more frequent, and preterm delivery was inevitable. Spontaneous vaginal delivery was not an option because of the patient's incomplete pelvis structure due to the previous left hip resection and extensive keloid tissue over the perineal region (Fig. ). A cesarean delivery was planned after multidisciplinary consultation and meetings with the patient.
General anesthesia was planned due to the patient's traumatic stress experience. Preoperatively, we ruled out deep venous thrombosis using Doppler sonography. The patient's right internal jugular vein was cannulated preoperatively due to difficult intravenous access. The patient inhaled oxygen in the operating room in the semidecubitus position. In preparation for a potentially prolonged operation, arterial access was also established according to the standard American Society of Anesthesiology monitoring guidelines. We used the central venous pressure (CVP) and pleth variability index (PVI) to guide fluid management. The bispectral index (BIS) and continuous total hemoglobin were also measured. The patient's blood pressure was 105/63 mm Hg, her heart rate was 102 beats/min, her oxygen saturation was 99% when breathing oxygen (>4 L/min), and her CVP was 6 cm H2O. After intravenous hydration with 300 ml of lactated Ringer solution (approximately 10 ml/min), she was positioned in the supine position with left uterine displacement to minimize aortocaval compression.
After sterile preparation, general anesthesia was induced through rapid sequence induction with ketamine, propofol, and succinylcholine, following adequate preoxygenation. A surgical incision was made immediately after successful tracheal intubation. To deliver the fetus as quickly as possible, a high transverse abdominal incision and a low transverse segmental uterine incision were used by the obstetric team to avoid surgical scars and peritoneal adhesions. A male infant weighing 2940 g was delivered in 3 minutes. Apgar scores were estimated to be 10 at 1 minute and 10 at 5 minutes. Anesthesia was maintained with a reduced sevoflurane concentration and sufentanil. Warm blankets were used during surgery, and parts of the patient's limbs were protected. The patient was stable during surgery with no significant blood loss. The patient's intraoperative systolic blood pressure was 110 to 130 mm Hg, her heart rate was 100 to 110 beats/min, her BIS was 45 to 65, and her CVP was 5 to 8 cm H2O. The duration of surgery and anesthesia were 34 minutes and 1 hour and 42 minutes, respectively. Intraoperatively, the estimated blood loss was approximately 500 ml, 800 ml of lactated Ringer solution was administered during surgery, and 200 ml of clear urine was collected. The patient was extubated after surgery and was then transferred to the ICU. At 42-days of follow up, she exhibited no signs of any postoperative complications. |
pmc-6408043-1 | A 60-year-old Chinese man with a case of acute granulo-monocytic leukemia in remission after the fifth myelosuppressive chemotherapy was admitted to the infection ward with a 20-day history of fever and swelling of the calves. The relevant history revealed that the patient was diagnosed with AML in July 2017. He was subsequently treated with chemotherapy from July 2017 to February 2018 and acquired complete remission-induction. After the latest period of chemotherapy in February 2018 (day 0), the patient presented with neutropenic fever and swelling of the lower limbs (day 15), and his fever continued despite broad-spectrum antimicrobial and voriconazole therapy, which was used as antifungal prophylaxis. A routine computed tomography (CT) scan of the abdomen and thorax on day 26 of chemotherapy was examined and revealed multiple hypodense lesions in the spleen (Fig. A) and right lung. The patient was continually treated with broad-spectrum antimicrobial and voriconazole therapy. After neutrophil recovery 3 days later (day 31), the patient requested discharge from the hospital and had low-grade fever and swelling of the limbs.
Unfortunately, the patient was subsequently readmitted to the hospital with high fever and severe swelling of the limbs on day 39. Multiple small nodules were assessed throughout both calves, and we found multiple subcutaneous abscesses in the calves as shown by B-ultrasound examination and magnetic resonance imaging (MRI) (Fig. C), which were suggestive of a possible infection. Meanwhile, fine-needle aspiration biopsy of 2 of the calf lesions revealed the presence of Candida tropicalis (sensitive to amphotericin and flucytosine, resistant to fluconazole, itraconazole, and voriconazole) (Supplementary Fig. 1). A lumbar puncture was performed to assess for central nervous system fungal infection, which revealed that the cerebrospinal fluid was negative for Candida. No nucleated cells were found in the cerebrospinal fluid. In addition, protein levels, serum glucose, and glucose levels were normal.
Due to the urgency needed in treating ICIs, antifungal therapy with amphotericin B for 6 to 8 hours daily (1 mg/kg/day) and flucytosine (at a dose of 2.5 g every 8 hours) was initiated according to the drug sensitivity test. Fine-needle aspiration of one of the hepatic lesions was scheduled 1 month after treatment with amphotericin B and flucytosine but was not performed because the patient had improved after treatment and was without fever, exhibiting normal alkaline phosphatase and improved C-reactive protein levels along with reduced swelling of his limbs. A repeat CT scan of the abdomen and lower limbs after 1 month of amphotericin B and flucytosine therapy revealed stable hepatosplenic and muscle lesions. Considering the side effects of amphotericin B, caspofungin was continued for 1 month at which time CT scan of the abdomen (Fig. B) and MRI (Fig. D) of the lower calves showed improvement. |
pmc-6408046-1 | A 65-year-old woman presented to our hospital after experiencing rapid abdominal distension in 3 weeks. Additional symptoms included fatigue, anorexia, and night sweating. There was no other discomfort, except melena in the past 2 weeks. She was a silent hepatitis B virus carrier and neither smoked nor consumed alcohol. She had retired from a carton factory several years previously. Physical examination revealed abdominal distension with shifting dullness. Neither lymphadenopathy nor hepatosplenomegaly was detected. Laboratory studies showed the following data: white blood cells (WBCs), 10400/μL; neutrophils, 60.0%; lymphocytes, 24%; monocytes, 14%; hemoglobin, 11.4 g/dL; mean corpuscular volume, 91.4 fL; platelets, 417,000/μL; albumin, 3.4 g/dL; lactate dehydrogenase (LDH), 901 U/L; and β2-microglobulin, 3861 ng/mL. No other electrolytes or renal or liver function abnormalities were noted. Tumor marker examination revealed increased CA-125 (425.8 U/mL); CEA, CA-199, CA-153, and tissue polypeptide antigen were within the normal limits. She had previously undergone total hysterectomy and bilateral oophorectomy, which were confirmed by transabdominal sonography. Computed tomography (CT) revealed massive ascites and peritoneal lesions with omental cake, along with metastatic paraaortic and paradiaphragmatic lymph nodes (Fig. A). Paracentesis for ascites analysis was performed, and it was yellow and clear in appearance (Fig. B). Other lab data of ascites included the following: WBCs, 54000/mm3; red blood cells, 720/mm3; neutrophils, 1%; lymphocytes, 76%; monocytes, 23%; LDH, 1415 U/L; protein, 3.1 g/dL; albumin, 1.7 g/dL; serum-ascites albumin gradient (SAAG), 1.4; sugar, 10 mg/dL; and amylase, 25 U/L. No microorganisms were detected, and acid-fast stain of ascites was negative. Ascites cytology plus cell block was also obtained. She underwent esophagogastroduodenoscopy because of melena, and it showed a large confluent infiltrative lesion about 10 cm in length with several ulcerations and a giant fold at the greater curvature side of the lower body of the stomach. Another lesion 3 cm in size with ulceration at the high body was also discovered, along with much coffee-ground material (Fig. C). A submucosal lesion, such as lymphoma or gastric adenocarcinoma, Borrmann classification type IV, was suspected. The pathology of the gastric tumors revealed diffuse infiltration of large atypical lymphocytes with centroblast features, and immunohistochemistry was positive for CD20, Bcl-2, CD10, MUM1, Bcl6, and c-MYC, and negative for CD3, which confirmed the diagnosis of DLBCL, germinal center B-cell type (Fig. A–D). Immunohistochemistry of the ascites cell block showed malignant cells positive for CD20 and negative for CD3, D2–40, Ber-EP4, and MOC-31, which was compatible with B-cell lymphoma (Fig. Aand B). Bone marrow biopsy was also performed, and the pathological examination revealed bone marrow involvement. We performed positron emission tomography (PET) for staging, which revealed diffusely nodal involvement in the bilateral infraclavicular/internal mammary chains, paraaortic/paradiaphragmatic regions, stomach, omentum, and mesentery (Fig. ). According to these results, gastric DLBCL, stage IV was diagnosed. The patient then received rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone for lymphoma treatment. Notably, under the concern of HBV infection, we prescribed entecavir before chemotherapy for prophylaxis of HBV flare-up. After 7 courses of treatment, a follow-up PET scan demonstrated partial remission of lymphoma, but an enlargement of residual tumors in omentum and mesentery as compared with the initial studies 8 months ago. During preparation for autologous peripheral blood stem cell transplantation, this patient's performance status deteriorated rapidly with intractable ascites. The treatment regimen was shifted to rituximab and bendamustine, followed by lenalidomide. Sepsis and acute kidney injury occurred after 1 course of therapy, and the patient expired 10 months after diagnosis. |
pmc-6408069-1 | The patient was a 62-year-old male farmer and was admitted to our hospital for intermittent hemoptysis of approximately 2 years duration. The patient had a smoking history of 360 pack-years for 30 years and was suffering from chronic obstructive pulmonary disease and pulmonary bullae. Before admission to our hospital, the patient had been diagnosed with and treated for pneumonia and bronchiectasis with antibiotics and hemostatics. At our hospital, the physical examination was normal, and a thorax computed tomography (CT; Fig. A and B) was performed, which revealed that the bronchus of left lower lobe was narrowed with associated local atelectasis, emphysema, pulmonary bullae, and thickened pleura. In order to confirm the diagnosis and exclude lung cancer, a bronchoscopy was performed, which showed a slit-like stenosis at the dorsal bronchial segment of the left lower lobe, swollen and smooth mucosa, and a significantly wider subsection carina. No abnormal vessels or active bleeding was noted and the other bronchus was normal (Fig. C). A large hemorrhage occurred immediately when biopsy was attempted at the carina of dorsal bronchial segment. The entire left airway immediately filled with blood, and rescue and resuscitation measures (e.g., ipsilateral position, increased oxygen flow, thrombin airway instillation, intravenous infusion with vasopressin, and sustained aspiration) were immediately taken. The patient developed hemorrhagic shock, and anti-shock measures were implemented (e.g., intravenous infusion with polygeline, compound sodium chloride solution, dopamine, and type-A erythrocyte suspension). Finally, the bleeding stopped 20 minutes later, with an estimated loss of 1500 ml. The patient was subsequently referred to the intensive care unit for further observation. Dieulafoy's disease of bronchus was suspected and bronchial arteriography was recommended after a multidisciplinary discussion, but the patient's family members refused to give permission for the same. The patient developed a recurrent massive hemoptysis 3 hours later; double-lumen endotracheal intubation was performed immediately and single-lung ventilation was started to maintain oxygenation. A bronchial arteriography was performed subsequently with the consent of patient's family, which showed abundant distorted and hyperplastic bronchial arteries in the left lower lobe, accompanied with contrast agent overflow from the vascular lesion (Fig. D). Finally, the aneurysmal vessel was embolized with poly-vinyl alcohol (PVA) particles of 500 μm diameter and hemoptysis stopped completely (Figs. E and F). After the operation, the patient was transferred to intensive care. Unfortunately, the patient eventually died of disseminative intravascular coagulation and multiple organ failure. Bronchial arteriography and subsequent autopsy confirmed Dieulafoy's disease of the bronchus. |
pmc-6408073-1 | A 72-year-old man was admitted to the local hospital due to repeated pain in epigastric region three months ago. He was diagnosed as acute pancreatitis with SIT and underwent conservative treatment. After this period, he visited our hospital due to recurrent pancreatitis. While treating acute pancreatitis, computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) scan confirmed the diagnosis of SIT with choledocholithiasis and gallbladder stone (Figs. and ). After comprehensively analyzing the cause, we noted that pancreatitis may relapse again in the future if cholelithiasis is not eradicated. In consideration of the patient's age, he underwent laparoscopic cholecystectomy (LC) combined with endoscopic choledocholithotomy after his symptoms were relieved.
The patient underwent endoscopic retrograde cholangiopancreatography (ERCP) first. He was placed in the left lateral decubitus position with basal anesthesia (An additional video file shows this in more detail [Additional file 1]). As a result of the anatomical abnormality, the endoscope was rotated 180° clockwise crossing the stomach and introduced to the second portion of duodenum. The ampulla was identified with difficulty because of a giant duodenal diverticulum nearby (Fig. A). The endoscope was rotated clockwise 30° without torsion under fluoroscopic guidance. After double-wire-guided cannulation and exhaust air for cholangiography (Fig. B), the cholangiogram showed filling defects (Fig. C) and sphincterotomy was performed (Fig. D). This was followed by endoscopic papillary balloon dilation (EPBD) (Fig. E), inserting a balloon catheter for sweep of sludge (Fig. F) and dilation assisted stone extraction (DASE) procedure (Fig. G). An endoscopic naso-biliary drainage (ENBD) was placed (Fig. H).
On the second day, the patient had no discomfort and underwent standard LC (An additional movie file shows this in more detail [see Additional file 2]). He was in supine position, with his head up and feet down at an angle of 30° and leaning 15° left. The surgeon and the mirror-gripping assistant were on the left side of the patient, and the 1st assistant was on the right side. The classical 4-ports technique was used, but at sites opposite the usual ones. There was 2 10 mm Trocar of ports (periumbilical) and 2 5 mm Trocar ports (midclavicular and anterior axillary line on the left epigastric). On the intraabdominal inspection, we could observe that the liver and the gallbladder were located on the left side of the patient, and the stomach was on the right side (Fig. A). Calot's triangle was dissected above the plane of Rouviere's sulcus, which was located at the left side of porta hepatis. A grasper was used to pull the ampulla of gallbladder to left to expose Rouviere's sulcus and to reach the common bile duct position. The cystic artery and duct were clipped by absorbable clips and titanium clips (Fig. B) and cut off to enhance the operative speed. Finally, the gallbladder was excised in retrograde fashion (Fig. C) and then, after the gallbladder bed reached hemostasis, extracted through the subumbilical port (Fig. D). The drainage tube was placed at the gallbladder fossa and the abdominal wall was closed as usual. The total operation time was 40 min and blood loss was 20 ml. The patient recovered well and the drainage tube and ENBD tube were removed on the 2nd postoperative day. No complications such as bleeding, pancreatitis, perforation (after ERCP) or bile leakage (after LC) was detected. He was discharged 4 days after the operation and had recovered well as of 3 months follow-up. |
pmc-6408077-1 | We report the case of a 42-year-old woman, Gravida 1, Para 1, that presented to the hospital due to diminished fetal activity in July 2017. Before obtaining this spontaneous pregnancy, the patient was previously diagnosed with a history of almost 10 years of infertility, uterine poly-fibromatosis, hypertension, and obesity grade II. The first ultrasound was performed at 11 weeks and 6 days and revealed a single intrauterine pregnancy. The following parameters were determined during the ultrasound exam: crown rump length (CRL) (51.8 mm), nuchal translucency (1.3 mm), nasal bone present, and ductus venosus flow (Fig. ). Patient underwent a noninvasive prenatal test and the results were: “low risk”, sex male fetus, and a 4.1% fetal fraction.
Further on, the physical examination of the patient revealed that the patient measured 170 cm in height and 113 kg in weight, having a body mass index (BMI) of 39.1. The blood pressure was 140/90 mmHg thereby the patient was advised to undergo a cardiologic examination in order to change the treatment for the pre-existing hypertension. Unlike the second trimester morphology, which was performed at 21 weeks and had normal results, the ultrasound examination performed at 30 weeks showed severe IUGR (780 g) <2.9 percentile, oligoamnios (amniotic fluid index—AFI: 7), ductus venosus with a negative wave, umbilical artery with reversed diastolic flow and placentomegaly with multicystic appearance without vascular flow (Fig. ).
Due to these findings, the patient was referred in emergency to the department of obstetrics and gynecology of Cuza Voda Clinical Hospital. At hospital admission, blood pressure was 160/110 mmHg and the medical team initiated treatment with Dopegyt 1tb/6 h and Nifedipine 1tb/12 h. Non-stress test was performed and revealed low reactivity, thereby an amniocentesis was performed and treatment with dexamethasone 6 mg/12 h was initiated. Subsequently, after 48 hours a C-section was performed resulting a male fetus with normal appearance, weighting 700 g, Appearance, Pulse, Grimace, Activity, Respiration score 3. The result from amniocentesis confirmed the absence of genetic anomalies, but the fetus died 4 days later after a massive intracerebral hemorrhage. The milestones related to diagnosis and interventions are depicted in (Table ).
Additionally, the macroscopic evaluation showed that the placenta was markedly enlarged, weighting 680 g and measuring 14 × 15 × 4 cm. The umbilical cord was 58 cm long and 1 cm in diameter with 3 vessels. The surfaces of the placenta showed an admixture of normal-looking areas and numerous clusters of grape-like fluid-filled vesicles measuring up to 2.0 cm in diameter (Fig. ). The umbilical cord presented an eccentric insertion. Further on, 2 types of villi populations were observed microscopically, a mostly normal for the gestational age population and the second type of villi was represented by enlarged stem villi with hydropic changes and central cistern formation, with thick-walled vessels at the periphery and myxoid stroma (Fig. ). |
pmc-6408098-1 | A 46-year-old man was referred to our hospital with complains of abdominal distention and pain for half a month in August 2017. This patient had Visual Analogue Score (VAS) of 5. He had a history of chronic hepatitis B for >15 years, and HBsAg, HbeAb, and HBcAb positive, respectively. Physical examination showed abdominal bulging and both lower extremity edema. Abdominal enhancement computed tomography (CT) scan revealed multiple masses in the liver. These masses located at the left lobe of the liver, with a maximum volume of 17.6 × 7.9 cm (Fig. A), and portal vein tumor thrombosis, hepatic vein, and inferior vena cava tumor thrombosis were showed on CT (Fig. A and B). Eastern Cooperative Oncology Group (ECOG) performance score 2, Child-Pugh grade 10, and serum alpha-fetoprotein (AFP) were 16210 ng/mL. The diagnosis of HCC was carried out according to the American Association for the Study of Liver Diseases (AASLD) Practice Guideline.[ This patient lost treatment opportunities of surgery, liver transplantation, and transcatheter arterial chemoembolization (TACE). Then, he received apatinib (500 mg once daily) treatment. Symptoms of abdominal distension and both lower extremity edema diminished with 1 month and the VAS of the patient improved from 5 to 2. AFP was decreased from 16210 to 13670 ng/mL after 21 days of treatment (Fig. ). Intrahepatic tumors, portal vein, and inferior vena cava tumor thrombus were significantly diminished after 2 months of treatment. Partial response (PR) was detected (Fig. C and D) after 2 months of treatment. Progression-free survival (PFS) after apatinib treatment was 12.5 months. The ECOG performance score was 1 of the patient on December 20, 2018. The patient had been followed for 16 months. The main toxicities were grade 2 hand-foot skin reaction and grade 1 hypertension, which were well controlled. |
pmc-6408142-1 | We report the case of a 76-year-old woman with a history of nonvalvular atrial fibrillation and hypertension, who had been receiving 15 mg rivaroxaban once daily since an episode of right middle cerebral arterial territory infarction 19 months earlier. Her CHADS2-VASc was 6. Adequate adherence to treatment was confirmed by her son. She arrived in the emergency department with an abrupt onset of consciousness disturbance, expressive aphasia, and right hemiparesis that occurred 30 minutes before the initial evaluation. The National Institutes of Health Stroke Scale (NIHSS) was 21. The onset of neurological deficits occurred 8 hours after the last dose of rivaroxaban administration. Clinical data on admission were as follows: blood pressure, 121/76 mmHg; prothrombin time (PT), 16.4 seconds (control: 11.0–14.5 seconds); international normalized ratio (INR), 1.41; activated partial thromboplastin time (aPTT), 137.0 seconds (normal: 32.0–45.1 seconds); thrombocyte count, 133 × 103 mm3 (normal: 130 × 103–400 × 103 mm3); and creatinine level, 0.71 mg/dL, with an estimated glomerular filtration rate of 85.1 mL/min/1.73 m2. Electrocardiography revealed atrial fibrillation. Conventional brain noncontrast computed tomography (CT) showed encephalomalacia at the right fronto-temporo-parietal lobe due to a previous infarction of the right middle cerebral arterial territory. CT angiography revealed luminal narrowing of the right cavernous internal carotid artery, left cavernous internal carotid artery, and basilar artery. An acute ischemic stroke was diagnosed. We did not initiate endovascular intervention because her son did not agree to this invasive treatment, citing personal reasons. After considering the patient's clinical condition and the prospective clinical benefits of r-TPA, we decided to treat the patient in spite of the guideline recommending an at least 24-hour interval between rivaroxaban intake and thrombolysis. Intravenous infusion of 0.6 mg/kg of r-TPA (total dose: 29 mg) was thus performed 9 hours and 40 minutes after the last rivaroxaban administration, with informed consent. During r-TPA infusion, improvement in the patient's neurological deficit was observed (NIHSS score, 16 on completion of infusion), and her blood pressure and heart rate were adequately controlled. Brain magnetic resonance imaging (Fig. A) showed gyriform diffusion restriction in the left frontal, occipito-temporal, and parietal cortico-juxtacortical imaging series 16 hours after the onset of symptoms. A brain CT scan (Fig. B) performed 24 hours after r-TPA administration revealed no hemorrhagic change, with an NIHSS score of 14. After 4 weeks, the patient was discharged with an NIHSS score of 13 and remaining neurological sequelae of the right hemiparesis and motor aphasia. |
pmc-6408243-1 | An 81-year-old man presented to the emergency room with fever, 5 years after EVAR for an infrarenal AAA of 54 mm in diameter with a Gore Excluder AAA Endoprosthesis (W.L. Gore & Associates, Inc., Flagstaff, AZ). During follow-up, a Type II endoleak in a stable aneurysm sac diameter was accepted. Three years prior to presentation, the patient was treated with an infragenicular femoropopliteal polytetrafluoroethylene (PTFE) bypass for an acute occlusion of a left popliteal artery aneurysm (PAA). A PAA on the right side was treated with a reversed autologous saphenous vein bypass. Prior to presentation, the patient was treated with ciprofloxacin by his family physician for a urinary tract infection. In-hospital urine cultures taken at presentation showed ciprofloxacin-resistant infection with
Klebsiella pneumoniae
.
At presentation the patient had fever up to 40°C. Laboratory examination showed plasma C-reactive protein (CRP) level of 254 mg/L and white blood cell count (WBC) of 12.3 × 10
9
/L. Because of an unclear focus for the infection,
18
F-fluorodeoxyglucose–positron emission tomography (
18
F-FDG–PET), combined with computed tomography angiography (CTA), was made. Increased FDG uptake on the PET scan was seen at the level of the proximal end and bifurcation of the aortic endograft and at the left PAA sac. All three locations had clear elevations in maximum standard uptake value (SUV
max
) and tissue-to-background ratio (
). In addition, a Type Ia endoleak was diagnosed with an increase in the aneurysmal sac diameter from 66 to 72 mm as compared with the duplex ultrasound 14 months earlier.
Oral ciprofloxacin was switched to intravenous meropenem for wider pathogen coverage at admission. Puncture of the left PAA was done 8 days after admission. Culture of the aspirated material revealed
Listeria monocytogenes
only intermediately sensitive to meropenem, but sensitive for amoxicillin and cotrimoxazole, after which the antibiotic regimen was changed to this combination. After this switch, the fever subsided. The left PAA sac was opened surgically and cleaned (
). Amoxicillin was administered for 4 weeks intravenously and oral cotrimoxazole lifelong. Ten weeks after presentation, fever was still absent, plasma CRP level declined to a level of 38 mg/L, and WBC declined to 5.2 × 10
9
/L.
Considering the patient's age and infections of both abdominal and popliteal vascular graft, an open surgical procedure to treat the Type Ia endoleak and remove the endograft was not an option. The infrarenal sealing zone was only 8 mm in length; therefore, repair with a fenestrated Anaconda AAA stent graft (Vascutek Ltd. Inchinnan, Scotland, United Kingdom) was chosen. The bi-iliac device contained fenestrations for both renal arteries and a fenestration for the superior mesenteric artery situated between the two proximal sealing rings (
).
For this procedure, a cutdown of both groins was performed to get access to both common femoral arteries. All three fenestrations were stented successfully, and no endoleak was present at completion angiography. The postoperative period was uneventful, and the patient was discharged from the hospital 3 days later. He is kept under lifelong oral antibiotic therapy with cotrimoxazole. CTA at 6 weeks did not show any endoleak or graft failure. After 3 months, no fever or events were reported, plasma CRP level was 9 mg/L, and WBC 5.3 × 10
9
/L. |
pmc-6408246-1 | A 52-year-old man presented to the general practitioner with 6-month history of atypical chest pain associated with dyspnea, hoarseness, and weight loss. On examination, the patient had stridor and was immediately referred to the acute medical unit. Computed tomography (CT) of his thorax showed a 6.5- × 4.5-cm DTA aneurysm effacing the proximal left main bronchus (
). A CT aortogram confirmed an anterior saccular aneurysm of the DTA with a maximum caliber of 5.6 cm, along with left main bronchus compression (
). There was no evidence of dissection or contrast leak. The patient was referred to our unit for urgent surgery.
On admission, a preoperative transthoracic echocardiogram revealed severe aortic regurgitation with tricuspid leaflets alongside moderate left ventricular (LV) dysfunction with an ejection fraction (EF) of 40%. His coronary angiogram was satisfactory with no flow limiting lesions; however, it demonstrated a right coronary artery (RCA) dominant system and a very short left main stem (LMS). Pulmonary function tests confirmed an obstructive defect (forced expiratory volume in 1 second [FEV
1
] 47% predicted, forced vital capacity [FVC] 66% predicted, FEV1/FVC 75%). His past medical history was significant for previously undiagnosed hypertension, empiric inhalers for symptomatic relief of dyspnea which were ineffective, and recent smoking cessation after a 15 pack year history.
The patient was taken to theater the day following admission for a planned mechanical aortic valve replacement (AVR) through a superior hemisternotomy followed by DTA repair through a left thoracotomy. Prior to sternotomy and heparinization for cardiopulmonary bypass, a spinal drain was inserted to reduce the risk of paraplegia during the anticipated second-stage DTA surgery. The patient was systemically cooled to 34°C and antegrade cold (4°C) blood cardioplegia was administered every 20 minutes. Cardioplegia was initially administered into the aortic root. However, severe AV regurgitation rendered this method inefficient; hence, it was later selectively administered into the left coronary artery and RCA ostia. Notably, the short LMS may have resulted in differential delivery down either the left anterior descending or left circumflex arteries. Owing to minimal access, it was not possible to administer retrograde cardioplegia.
Intraoperative findings suggested vasculitic changes including a blood-stained pericardial effusion with vascular adhesions and a thickened edematous ascending aortic wall. Intraoperative transesophageal echocardiogram showed global LV dysfunction with an EF of 30%.
The patient initially failed to come off bypass, so a second run of bypass was required to rest the myocardium and allow longer reperfusion as well as optimization of inotropic drugs and insertion of a pulmonary artery catheter. He was eventually weaned off bypass on moderately high inotropic and vasoconstrictor support (cardiopulmonary bypass time 145 minutes, aortic cross clamp time 108 minutes). Prolonged cross-clamp time was a result of limited access to the AV due to a small incision and a thickened aortic wall. The decision was made to delay his DTA repair until his LV function returned to his preoperative state and he was therefore transferred to the postoperative critical care unit.
On day 2 following AVR, a transesophageal echocardiogram showed recovery of LV function and the patient was taken back to theater for his second operation. Access was gained through a left fifth intercostal space thoracotomy, and he was put on left heart bypass (LHB) with one-lung ventilation to maintain distal aortic perfusion. The aneurysm was replaced with a rifampicin-impregnated 22-mm Dacron tube graft leaving the native aneurysm tissue adherent to the left main bronchus as a buttress. Motor evoked potentials were maintained throughout.
The remainder of his postoperative course was uneventful, and the patient was discharged home on postoperative day 7. At 6 weeks follow-up, he remains well. |
pmc-6408248-1 | A 70-year-old woman with a past medical history significant for hypertension, congestive heart failure, Type 2 diabetes mellitus, hypothyroidism, chronic obstructive pulmonary disease and metastatic colon cancer on chemotherapy presented with acute onset of chest pain. Her medications included multiple antihypertensive drugs—nebivolol, metoprolol, and clonidine. Computed tomographic (CT) angiogram of the chest was performed and demonstrated an acute TAAD with intramural hematoma and a definite true and false lumen (
). On presentation to the emergency room, her blood pressure was immediately controlled on nicardipine and labetalol. An arterial line was placed, and the patient was admitted to the cardiothoracic intensive care unit (CT-ICU) for hemodynamic monitoring and blood pressure control. Over the next few days, intravenous (IV) medications were weaned off as the patient was transitioned to oral anti-impulse medications. The patient performed well and was discharged home after 5 days in the hospital. She died 8 months later. |
pmc-6408248-2 | An 86-year-old man with a past medical history significant for hypertension, coronary artery disease status post percutaneous coronary intervention (PCI), severe aortic stenosis, status post transcatheter aortic valve replacement (TAVR) 3 years prior, congestive heart failure, atrial fibrillation, and chronic kidney disease presented with worsening dyspnea on exertion, chest pain, orthopnea, cyanosis, and lower extremity swelling. On presentation the patient was noted to be in atrial fibrillation with rapid ventricular response. A CT of the chest was obtained due to the complaint of chest pain. CT at this time showed a 6.7-cm ascending thoracic aortic aneurysm without evidence of dissection. The patient was transferred to our institution for cardiothoracic surgery evaluation of the aortic aneurysm. While hospitalized, he again reported an episode of chest pain. A CT angiogram of the chest was performed and revealed an acute TAAD with a definite true and false lumen (
). He was transferred to the CT-ICU and placed on IV anti-impulse medications. Based on his comorbidities, including chronic kidney disease, he was judged to be a poor surgical candidate. Over several days, the patient was transitioned from IV to oral anti-impulse medications and was discharged home. The patient died 1 year later. |
pmc-6408248-3 | A 64-year-old woman with a past medical history of hypertension, coronary artery disease with several episodes of cardiac arrest, bipolar disorder, hepatitis C, hysterectomy, and tracheostomy presented as a transfer from an outside institution for evaluation and management of an acute TAAD that occurred during cardiac catheterization and stenting of the right coronary artery. A CT angiogram was obtained and confirmed an acute TAAD with true and false lumens and a dissection flap extending from the junction of the right- and noncoronary cusps of the aortic valve to the inferior mesenteric artery and left renal artery (
). The patient was admitted to the CT-ICU for hemodynamic monitoring and IV anti-impulse control. Because of the patient's comorbidities, the family elected for nonoperative management. Her ICU stay was complicated by respiratory failure requiring intubation and eventual revision of her tracheostomy. During the hospitalization, the patient was diagnosed with sick sinus syndrome requiring a permanent pacemaker. After being transitioned to oral medication, she was discharged to a rehab facility and remains alive. |
pmc-6408453-1 | An afebrile 39-year-old man was admitted to the University Hospital of Zurich due to a pacemaker pocket infection. This first pacemaker was implanted 22 years ago because of cardiac arrhythmia. A new pacemaker was then implanted on the contralateral side 14 years later because of lead dysfunction of the first pacemaker. The leads of the first inactive pacemaker were left in situ since they could not be removed without causing damage and thus were cut and capped. The batteries were replaced twice, 8 and 2 years prior to the infection.
Upon admission, the pocket of the inactive first pacemaker was debrided, and the electrodes were trimmed as they could not be completely removed without open-heart surgery. Intraoperatively, turbid fluid was found and sent for microbiological analysis. S. epidermidis grew in multiple tissue samples, and, accordingly, the empirical antibiotic treatment amoxicillin/clavulanate was changed to intravenous vancomycin and rifampicin (Fig. ). Antimicrobial susceptibility testing revealed a methicillin-susceptible S. epidermidis, only resistant to ampicillin and erythromycin. Therefore, vancomycin treatment was switched to flucloxacillin and rifampicin treatment was continued. The local infection significantly improved, and, after 12 days, antibiotic treatment was switched to an oral regimen consisting of rifampicin and ciprofloxacin and the patient was discharged from the hospital.
Fourteen weeks later, the patient presented with fever and was readmitted to the hospital. S. epidermidis grew in all four inoculated blood culture bottles, after 29 h under aerobic conditions and after 61 h under anaerobic conditions. A pacemaker-associated endocarditis was diagnosed after an echocardiography revealed two vegetations that were attached to the ventricle and the right atrial electrode, respectively. The empirically initiated systemic antibiotic treatment with daptomycin was changed to intravenous flucloxacillin, once methicillin susceptibility was confirmed and oral rifampicin was continued. Blood cultures did not show any bacterial growth 2 days later. Two weeks later, the pacemaker and all the leads were removed, and an epicardial pacemaker was implanted during an open-heart surgery. Despite the extensive antibiotic treatment, 70 S. epidermidis colony-forming units (CFUs) per ml were cultivated after sonication of the pacemaker aggregate and the leads. After completing the antibiotic treatment, the patient fully recovered and has been without an infection over the last 3 years as documented by clinical, laboratory, and echocardiographic follow-ups. An overview of the antibiotic treatment regimen and the isolation time points of S. epidermidis is shown in Fig. . |
pmc-6408754-1 | A 61-year-old Indonesian man complained of typical chest pain that began 1 week before admission and had worsened 3 hours prior to admission. Accompanying symptoms were dyspnea, nausea, and sweating. On examination, his blood pressure was 110/80 mmHg, heart rate was 54 beats/minute, respiratory rate was 22 times/minute, and temperature was 37 °C. Cardiorespiratory examination results were within normal limits. A neurological examination was unremarkable. He had a history of dyslipidemia and hypertension, but there was no history of diabetes. His father had hypertension, but his family history was otherwise unremarkable. He quit smoking tobacco 17 months prior to admission. He did not drink alcohol. Current medications were captopril, bisoprolol, aspirin, clopidogrel, warfarin, isosorbide dinitrate (ISDN), and atorvastatin. He was not compliant with the warfarin regimen, particularly at a few weeks after hospital discharge and at 7 and 13 months before the present admission. Electrocardiography showed sinus rhythm of 54 beats/minute, left ventricular hypertrophy, horizontal ST-segment depression, and T wave inversion at leads I, aVL, and V4–6. A biphasic T wave was observed at lead V2–3 (Fig. ). Laboratory results showed a suboptimal international normalized ratio (INR) of 1.28. The level of triglycerides was 273 mg/dL; low-density lipoprotein (LDL) and high-density lipoprotein (HDL) levels were within normal limits. The complete blood count and urea, creatinine, aspartate aminotransferase (AST), alanine aminotransferase (ALT), creatine kinase–myocardial band (CK-MB), and high-sensitivity troponin (hs-troponin) T levels were within normal limits. He was given a loading dose of aspirin and clopidogrel along with fondaparinux, and his symptoms were alleviated.
CAG showed an ectatic and turbulent mid-distal right coronary artery (RCA) and slow flow. There was a patent stent in the mid-left anterior descending coronary artery (LAD) and first diagonal branch (D1) (Fig. ).
He had previously presented with chest pain on exertion (stable angina) at 17 months before the present admission. CAG showed an ectatic RCA, 30% irregular diffuse proximal-distal flow, turbulent distal flow, and 70% stenosis at the proximal D1 vessel and 50–60% stenosis at the mid-LAD past the D1 vessel (Table ) (Fig. ). He requested medical treatment rather than percutaneous coronary intervention (PCI); he was given bisoprolol, aspirin, ISDN, and atorvastatin and was then scheduled for a repeat angiogram 6 months later. However, he presented with unstable angina pectoris (UAP) 14 months before the latest presentation, ahead of the scheduled CAG. CAG showed a similar lesion at the RCA and 70% stenosis at the proximal LAD, 90% at the proximal D1 vessel. The D1 vessel was stented. He was given DAPT. He presented again with UAP 1 month later, and CAG showed a similar lesion at the RCA, 70–80% stenosis at the mid-LAD, and a patent D1 stent. PCI was performed, and the LAD was stented. His coagulation panel was within normal limits. He was given an anticoagulant due to angina caused by coronary ectasia. He presented again with UAP 7 months before the present admission, and CAG showed ectatic, turbulent mid-distal flow and slow flow in the dominant vessel, Thrombolysis In Myocardial Infarction (TIMI) flow II–III distal to the nonstenotic RCA, and a patent stent at the mid-LAD and D1 vessels. His INR was suboptimal (1.4). He was suspected of having recurrent ACS due to microvascular occlusion caused by slow flow and an ectatic vessel; warfarin therapy was intensified, and he was educated regarding the importance of reaching the INR target. At the time of the writing of this article, he had been event-free for 6 months, and his INR was 2.3. He remained compliant with the drug regimen. |
pmc-6408775-1 | An 18-year-old Japanese woman experienced a sudden onset of abdominal pain and vomiting, and was therefore transported to the out-patient emergency ward at our institution. She was a student with no employment history. Her height was 156 cm and weight was 55 kg. Her consciousness was normal and there were no neurological abnormalities. She had been receiving antihistamines for atopic dermatitis but had no other conditions, such as neuropathy or hematuria, which would lead us to suspect neuritis or vasculitis. She had no history of tobacco smoking or alcohol consumption. Moreover, there was nothing of note in her family history.
On physical examination, palpation revealed a flat abdomen with tenderness in the upper umbilical region, and no signs of peritoneal irritation. Her temperature was 36.3 °C, blood pressure was 159/123 mmHg, pulse was 85 beats/minute, and oxygen saturation was 99% on room air. Her blood laboratory findings revealed a white blood cell count of 8600/mm3 and a C-reactive protein level of 0.12 mg/dL, which was not suggestive of an inflammatory process. However, an increased D-dimer level of 4.36 μg/mL was noted. Her renal and liver functions were normal (blood urea nitrogen 9 mg/dL, creatinine 0.4 mg/dL, aspartate aminotransferase 31 U/L, and alanine aminotransferase 21 U/L). An abdominal contrast-enhanced computed tomography (CT) scan showed emphysema of the wall of her small intestine with poor contrast enhancement that corresponded to the area of tenderness (Fig. ). However, the contrast CT revealed heterogeneous contrast enhancement, leading to a suspicion of renal infarction (Fig. ). Necrosis of the small intestine was suspected based on the imaging findings, and urgent surgery was performed.
Laparotomy revealed an area of necrosis 20 cm in length, which was approximately 100 cm away from the Treitz ligament of the jejunum. There were no findings of strangulation, which precluded the identification of the cause of the necrosis (Fig. ). Since there was no palpable pulse over the arteries surrounding the necrotized intestine, the necrotized regions were resected and the small intestine reconstructed to maintain a palpable pulse.
After surgery, a thrombotic lesion was suspected and anticoagulant therapy with heparin sodium at 20,000 U/day was started. However, pathological findings showed active vasculitis associated with fibrinoid necrosis, as well as destruction, fibrogenesis, and luminal stenosis of the elastic lamina in the muscular arteries. Our patient was therefore diagnosed as having PAN-induced necrosis of the small intestine (Fig. ). Other postoperative investigations included a blood test, which showed that she was negative for proteinase 3-antineutrophil cytoplasmic antibody (ANCA) and hepatitis B surface antigen, but weakly positive for myeloperoxidase (MPO)-ANCA (5.3 U/mL; normal range, 0.0–3.4 U/mL). A postoperative angiograph of her renal arteries demonstrated multiple aneurysms in the renal arterioles. Postoperative urine analysis was positive for proteinuria. Anticoagulant therapy was discontinued, and she was administered 40 mg of prednisolone daily starting on postoperative day 11. Since she continued to improve, the dose of prednisolone was reduced. It has been a year since the surgery, and she is receiving prednisolone at 5 mg a day without recurrence. |
pmc-6408777-1 | A 78-year-old lady of Hispanic ethnicity, with pseudo-exfoliative glaucoma (PEXG) and exudative age-related macular degeneration (AMD) presented for a routine follow-up appointment in a large tertiary ophthalmology clinic with an acutely raised IOP in the left eye. Her past surgical history comprised of combined Ex-PRESS glaucoma shunt and cataract surgery in the left eye 12 years previously. Her right eye underwent combined deep sclerectomy and cataract surgery 11 years prior to the present presentation, with a subsequent YAG goniopuncture performed 2 years post-operatively. Her IOP had since remained relatively stable between 14 and 19 mmHg in the right eye, and 16–21 mmHg in the left eye with a topical therapy of latanoprost (Xalatan, Pfizer PFE Switzerland GmbH, Switzerland) and timolol 0.1% (Timogel, Théa Pharma SA, Switzerland). The AMD had remained stable since completing a series of three ranibizumab (Lucentis, Novartis Pharma, Switzerland) intravitreal injections in the left eye 4 months previously.
At the described presentation, the patient was completely asymptomatic with no reported pain or discomfort and a best corrected visual acuity of 10/10 in the right eye and 7/10 in the left eye. On examination, her IOP was 18 mmHg in the right eye and 48 mmHg in the left eye, as measured with a Golmann tonometer, with a pachymetry of 552 and 555 μm in the right and the left eye respectively.
Slit-lamp examination confirmed quiet anterior chambers with intraocular lenses in place, and good-sized diffuse filtration blebs in both eyes, with two scleral sutures in situ within the left bleb. Gonioscopic examination was unremarkable showing open angles in both eyes, with an open trabeculo-Descemetic membrane in the right eye and an Ex-PRESS shunt in situ in the left eye, the position and patency of which was confirmed with an anterior segment optical coherence tomography (OCT) (Spectralis OCT, Heidelberg Engineering AG, Germany). The latter also confirmed the functional and diffuse appearances of both filtration blebs. Fundus examination, visual fields and OCT imaging were stable, with extensive drusens in both eyes, no recurrence of macula oedema, normal retinal vasculature, and a cup/disc ratio of 0.6 in the right eye and 0.7 in the left, on 1.4 mm-diameter papillae (Figs. , , ).
Subjective history confirmed good adherence to the medical therapy and the absence of any recent physically traumatic incident. However, the patient volunteered going through a period of severe emotional stress due to a recent family breakdown and an emotional argument immediately prior to the appointment. Her personality was subjectively assessed as type A by the medical team.
She was commenced on a combination of topical timolol and dorzolamide (Cosopt, Santen, Japan) and brimonidine (Alphagan, Allergan, Dublin, Ireland) twice a day in the left eye, and a daily dose of 500 mg acetazolamide (Diamox, Vifor Pharma, Switzerland) administered orally, in an attempt to promptly normalise IOP and preserve nerve fibres.
The next day, IOP had normalised to 10 mmHg and 16 mmHg in the right and the left eye respectively. The systemic medications were reduced and stopped, and the IOP returned to near-baseline levels, with subsequent measures between 12 and 16 mmHg in the right eye and 18–23 mmHg in the left eye, as shown in Fig. . In the meantime, the patient reported some subjective reduction in her levels of stress despite ongoing anxiety and a difficult familial situation.
Two months later, the IOP in both eyes was still stable under topical timolol and dorzolamide in the left eye (Fig. ). To exclude inter-measures and diurnal variations, twenty-four-hour monitoring of IOP-related variations using a Triggerfish contact lens sensor (Sensimed SA, Lausanne, Switzerland) was performed. It suggested relative stability of the pressures through the day and at night, with minimal changes following the instillation of topical therapy (Fig. ). Posterior needling combined with suture lysis was performed to further improve IOP control in the left eye, however despite mild initial improvement, IOPs stabilised at 22 mmHg after 2 months. A XEN-augmented Baerveldt procedure was carried out, achieving an unmedicated IOP of 16 mmHg at 1 month []. |
pmc-6408815-1 | A 46-year-old Chinese female patient presented with 5 months of central scotoma in her right eye, without prodromic symptoms. There was no history of traumatic, systematic illnesses, or a family history of eye disorders. Visual acuity of the afflicted eye was corrected from 8/20 to 10/20. The anterior segment and vitreous were normal. The fundus photo (Topcon TRC50LX; Topcon,Tokyo, Japan) results showed atypical pigmentary alterations and local serous detachment involving the central fovea (Fig. ). The optical coherence tomography (OCT, Heidelberg Engineering, Heidelberg, Germany) revealed persistent sub-retinal fluid (SRF) and FCE (Fig. ).
This patient had been diagnosed with CSC 2 months before and had been given the order for observation, but no visual benefits occurred until this visit. The fluorescent angiograph (FA) displayed the typical inkblot leakage of classic CSC. Given the symptoms duration, which had lasted for more than 3 months, half-dose PDT was chosen to halt the development of the disease. After obtaining written informed consent, a half-dose (3 mg/m2) of PDT (Opal Photoactivator; Lumenis, Beijing, China) was performed as a standard protocol [], with a spot size of 2500 μm covering the leaking sites juxta-fovea, which involved the FCE.
One month post-treatment, the best-corrected visual acuity (BCVA) was 10/20. The OCT presented a complete resolution of the SRF. However, after 3 months, the patient complained of obvious metamorphosis, though the BCVA result was stable. The fundus photo showed sub-macular haemorrhage and a round hypopigmentary site inferior-nasal to the fovea. The OCT revealed, right in the FCE, a lesion of CNV that had broken through the retinal pigment epithelium (RPE), accompanied by SRF, haemorrhage and limited retinal edema. The FA confirmed the occurrence of CNV. Promptly, the patient received an intravitreal injection of anti- vascular epithelial growth factor (anti-VEGF) – ranibizumab for 0.5 mg. One month post-injection, the CNV had become a scar precisely at the sites of the FCE, and presented as an RPE elevation with hyper-reflective material. Only at the area nasal to the scar was there a little residue FCE. Neither the BCVA nor metamorphosis changed. No obvious changes occurred 3 months after injection. |
pmc-6408815-2 | A 39-year-old Chinese male patient presented with 6 months of vision loss in both eyes (Figs. , ). There was no history of traumatic, systematic illnesses, or a family history of eye disorders. The BCVA was 8/20 (od), and 16/20 (os). The fundus findings showed pigment alteration inferior-temporal to the fovea (od) and serous retinal detachment involving the macular (os). The OCT in left eye showed SRF. The mid-phase angiography showed multi-focal leaking spots in the FA and correspondingly hyperfluorescence in the indocyanine green angiography (ICGA; Fig. ). The OCT in the right eye showed a subtle amount of SRF with FCE. The mid-phase angiography displayed a suspicious leaking spot inferior to the fovea in the FA and correspondingly hyperfluorescence in the ICGA (Fig. ). Given the manifestations and durations, bilateral chronic CSC was diagnosed.
After obtaining written informed consent, a half-dose of PDT was given with a spot size of 3500 μm (od) and 5400 μm (os). The spot in the right eye covered the FCE. The SRF in the left eye was partly resolved after 1 month, and completely resolved after 3 months. The angiography in the left eye presented without active leaking at 3 months. The BCVA (os) improved to 20/20 after 1 month, 24/20 after 3 months, and then remained stable at six-month.
Unexpectedly, the recovery of his right eye did not go well. After 1 month, the patient complained of further vision loss in the right eye. The fundus examination showed serous retinal detachment and subretinal haemorrhage. The OCT indicated that CNV had emerged and passed through the RPE, leading to fluid accumulation and haemorrhaging. The CNV blurred the existence of the FCE. The BCVA had declined to 4/20.The patient immediately received intravitreal an injection of 0.5 mg ranibizumab. One month post-injection, the apparent regression of the CNV and SRF was witnessed on OCT and fundus photo. The BCVA improved to 6/20. Two months later, the CNV had become a scar. The BCVA returned to baseline at 8/20. Five months after the injection, OCT and angiography confirmed the stabilization of CNV. The BCVA remained at 8/20. |
pmc-6408836-1 | An 84-year-old Caucasian man with a distant past history of Billroth II gastrectomy for peptic ulcer disease and cholecystectomy for cholelithiasis was admitted to hospital for investigation of painless jaundice following referral from his general practitioner (GP).
He had a 1-month history of anorexia, weight loss, malaise, and painless progressive jaundice. An examination revealed normal vital signs, icterus without stigmata of chronic liver disease, and a soft abdomen with no organomegaly. Biochemistry demonstrated: microcytic anemia with hemoglobin of 108 g/L, mean corpuscular volume 72 fL, and ferritin 4557 μg/L; obstructive cholestasis with bilirubin of 164 umol/L, alkaline phosphatase (ALP) 2167 units/L, gamma-glutamyl transferase (GGT) 857 units/L, aspartate transaminase (AST) 225 units/L, and alanine transaminase (ALT) 301 units/L; modestly raised inflammatory markers with white cell count (WCC) of 12.77 × 109/L and C-reactive protein (CRP) 80 mg/L; and hypoalbuminemia (24 g/L) with a normal international normalized ratio (INR) of 1.2 and platelet count of 294 × 109/L. Cancer antigen 19-9 (CA 19-9) was raised at 132 kU/L.
His common bile duct, liver parenchyma, pancreas, and portal vein were of normal appearance on abdominal ultrasonography, with a subsequent MRCP showing no dilatation of the biliary tree and no evidence of any intraductal, pancreatic, or hepatic lesions. The MRCP did, however, exhibit dilatation of the afferent duodenal limb being 4.8 cm in maximal width (Fig. ) and a single enlarged portal hilar lymph node measuring 13 mm in its short axis. Given the discordant lack of biliary dilatation on imaging, a liver biopsy was performed.
Histopathology demonstrated edematous portal tracts with inflammation within the portal tracts including neutrophils, which were not seen within the lumen of the ductal epithelial cells (Figs. and ). Furthermore, lobular bile accumulation was present as was ductular proliferation at the edge of the portal tracts, highlighted by cytokeratin immunoperoxidase (Fig. ). Focal steatosis was present with no distinct zonal pattern but with a tendency to be periportal. A suspicion of cholangitis was raised and treated with appropriate antibiotics, but with no clinical improvement. The histopathology and clinical picture taken together was felt to be most in keeping with acute large bile duct obstruction. A full hepatic biochemical screen investigating for infective and autoimmune causes was unremarkable.
A gastroscopy was subsequently performed to investigate the enteric abnormalities noted on MRCP, revealing a markedly deformed remnant stomach with a mass lesion at the gastroenteric anastomosis suspicious for malignancy (Fig. ). The afferent limb was stenosed and unable to be intubated preventing visualization of the major duodenal papilla. Biopsies of the mass lesion confirmed moderately differentiated gastric adenocarcinoma.
The biliary obstruction was managed by endoscopic wire-guided stent insertion through the obstructing tumor into the afferent duodenal limb (Fig. ) with subsequent resolution of jaundice (bilirubin 16 umol/L) and significant improvement in liver enzymes (ALP 424 units/L, GGT 346 units/L, ALT 33 units/L). As our patient was not a candidate for surgical intervention or chemotherapy due to locoregional disease extent and frailty, he was eventually discharged home with palliative support following a period of in-patient rehabilitation. |
pmc-6408840-1 | A five-year-old typically developing female was referred by her primary care provider for evaluation of a rash reported to be sensitive to sunlight and had been reoccurring for the last 4 years. Cutaneous exam revealed fine scale on her trunk and extremities as well as small pink flat papules on lower left leg. She was diagnosed with ichthyosis vulgaris and provided with a treatment plan. She was subsequently referred to gastroenterology for decreased appetite. Two weeks later the child presented to the Emergency Department for right knee pain. Her mother reported her daughter had experienced bilateral lower extremity pain and had been limping. During the evaluation she was able to walk for the physician without reporting pain and no tenderness was reported with palpation. The mother reported her daughter was bitten by a tick about 1 year ago and that no workup or treatment was conducted. Radiographic scans of the right knee and leg showed no abnormalities. Laboratory testing for Lyme disease was conducted and found to be negative. She was discharged with the diagnosis of tenosynovitis. The child presented again to the Emergency Department the following week for left knee and ankle pain. She reported pain in her left calcaneus when asked to bear weight. Migratory arthralgia was noted and further laboratory testing, including a vitamin C level, was ordered. Her vitamin C level was found to be < 5 umol/L (reference range: 23 to 114 umol/L). Her prealbumin level was also low, 14 mg/dl (reference range: 17–36 mg/dl) as was both her ferritin 3.9 ng/ml (reference range: 6.2–137.0 ng/ml) and her iron saturation 15% (reference range: 20–55%). Both vitamin A and vitamin D were found to be within the normal reference range. With the diagnosis of the vitamin C deficiency, the child was started on ascorbic acid and referred to the feeding program.
The participant was the youngest of six children and raised by her biological parents in a middle-class household in a small town. She was born full term by caesarian section with a birth weight of 3.88 kg. There were no prenatal or postnatal complications. No delays in development were noted by the primary care provider or parents. She scooted at 6 months and walked before 1 year. No problems were noted with her gait until several weeks prior to the initial visit to the Emergency Department for knee pain.
At 1 year of age, she transitioned from infant formula to milk and cereal snacks. She never accepted baby food. For 4 years after transitioning off infant formula her diet consisted of cereal snacks, one type of cracker, and, inconsistently, chocolate pudding, vanilla ice cream, chocolate, and banana. Except for the occasional banana, she never ate fruit, vegetables, or meats. She drank skim milk, water, and, rarely, soda. She refused to taste new foods or drinks. Additionally, at the time of her diagnosis with vitamin C deficiency, her body mass index was at the 1st percentile. Based upon her inadequate growth and extremely limited diet, she was admitted to an intensive day treatment feeding program. During the course of intensive treatment she learned to eat 29 foods from all food groups through the use of an intervention involving gradual repeated exposure to novel foods []. In 6 months after intensive treatment, her weight had increased by four kilograms, her height increased by three centimeters, and her body mass index reached the 61st percentile. At 1 year after completion of intensive treatment, her height had increased by 7.6 cm and her weight had increased by seven kilograms Her body mass index reached the 85th percentile (see Fig. ). Across the span of the 1 year after intensive treatment she continued to be monitored as an outpatient by a feeding therapist who continued to address the child’s diet variety and helped the family maintain the gains made during intensive treatment. At all outpatient appointments, a meal was conducted allowing the therapist to verify the child’s consumption of a variety of foods.
How unusual was this case?
To determine how this case compared to the existing literature, articles describing cases of scurvy secondary to diet limitations published from 2000 to 2018 were reviewed. PubMed and Google Scholar were searched using the search terms, “scurvy” and “ascorbic acid deficiency”. The reference section and citation listing of each article identified from these searches were then examined to identify additional articles. Sixty-one articles describing either a case study or a case series reported on 77 children diagnosed with scurvy as a result of diet insufficiencies (see Additional file for an alphabetical listing of all studies). Selected demographics from these studies are shown in Table . While the child in the current study was only slightly younger than median age as the children in the existing literature, she differed from most of these children who were predominantly males with special needs, most often, autism spectrum disorder. Of the 77 reported cases, only six were females without special needs.
While all 77 children reported in these studies had limited diets, it is not clear that all could be described as selective eaters or to what degree their diets were the result of refusal to eat a variety of foods. Six of the children exhibited oral motor dysfunction which limited the range of foods they could eat [, ]. While some, or possibly all, of these six children might have obtained sufficient nutrition by consuming lower texture foods, oral supplement, or multi-vitamins, it is probable their parents did not know how to modify their diets to match their oral motor limitations. There were also three children dependent upon tube feeds who either received an insufficient amount of enteral formula [] or received homemade tube feeds deficient in vitamin C []. There were other children whose diets were not adjusted to meet their specific health needs, for example, one child receiving a ketogenic diet was not receiving any vitamin supplementation [] and another child received only a limited diet due to multiple food allergies []. For various reasons, the parents of 18 children, (five children with typical development, 14 children with special needs other than autism) limited their diets to the point these children developed vitamin C deficiency. Of the nine children with typical development with parent-limited diets, all but two were less than 2 years of age.
Fifty-nine of the children described in the existing literature could be described as selective eaters whose scurvy resulted from their limited intake. Of these children, 41% had autism spectrum disorder, 31% had intellectual disabilities, and 86% were male. Four of these 59 children were females with typical development like the girl in the current study. The child in the current case study had a diet similar to the diets of these 59 children identified as selective eaters in the existing literature on vitamin C deficiency. None of these children reportedly consumed vegetables or fruits, most consumed only starches and dairy products, with a few eating a limited number of proteins. The child in our case study was anemic, as were 42% of the children in the existing literature, an expected finding given the role of vitamin C in iron absorption. While the child in our case study did not exhibit signs or symptoms indicative of additional nutrient deficiencies, other deficiencies were considered likely so she was placed on a multivitamin within a day of the initial diagnosis of vitamin C deficiency. Her pediatrician conducted further testing and found her vitamin A and vitamin D levels were within the normal range. Of the 59 children described in the existing literature, 22% were identified with an additional nutrient deficiency beyond anemia (e.g. vitamin A, vitamin D). Given the diets reported for these 59 children, it is possible, if not probable, that more of these children had other nutrient deficiencies, but further deficiencies were either not reported or not identified.
The girl described in our case study had a body mass index at the 1st percentile prior to her feeding treatment. Underweight was also a common problem among the 59 children in the existing literature, with 32% being described as underweight. It is not surprising so many of these children were underweight. Many of children had anemia, which decreases appetite and eating was no doubt uncomfortable or even painful for many of these children, 71% of whom exhibited gingival symptoms. |
pmc-6408987-1 | The patient was a 4-year-old girl born at 33 weeks of gestation with EA and a distal tracheoesophageal fistula (TEF). She underwent surgical correction of EA on the early day of life. After her primary repair, she developed a multitude of complications, including anastomotic stricture and recurrent fistula. She underwent over 20 esophageal dilatations and five esophageal stent placements, as well as a tracheostomy in an outside hospital, before being referred to our center. We initially performed a bronchoscopic and esophagoscopic examination under general anesthesia to investigate the condition of esophagus. An on-table contrast esophagography showed a tracheoesophageal fistula at the level of the upper esophagus (
). Endoscopy revealed a large tracheoesophageal fistula which was most likely iatrogenic after stent placement with a cuffed tracheostomy tube in place, causing erosion of the adjacent tracheoesophageal walls (
). This finding prompted us to perform a tracheoplasty and gastric interposition using gastric pull-up procedure. After the operation, she had no symptoms and was not taking any medications, including antacid drugs. One year after recovery, the patient had dysphagia with solid food. Upon endoscopy, a mucosal bridge was noted at the level of the gastroesophageal anastomosis (
). This bridge was divided under endoscopic vision using a 6 mm flexible endoscope and a 5 mm miniature stapler (JR-ST25.2.0, JustRight Surgical) at the same time. The procedure took 25 minutes (
). No intra- or postoperative complications were noted. Upon follow-up, she had no more complaints with solid food. |
pmc-6408989-1 | A 64-year-old postmenopausal and previously healthy woman was referred to our hospital in June 2015 after her first screening colonoscopy revealed an adenocarcinoma. Immunohistochemistry (IHC) of the colonic lesion was positive for CK-7, GATA-3, and ER, weakly positive for MOC-31, and negative for CK-20, CD-X2, PR, PAX-8, SOX-10, CD45, chromogranin, synaptophysin, and TTF-1, findings consistent with a breast primary. The patient was asymptomatic with no palpable masses or lymphadenopathy on clinical exam. Her past surgical history was significant for hysterectomy secondary to symptomatic fibroids, and her family history was negative for cancers. A screening mammography performed a month prior was normal. Staging with computerized tomography (CT) of the chest, abdomen, and pelvis in August of 2015 revealed osteolytic thoracic vertebral and pelvic lesions as well as bilateral axillary adenopathy measuring up to 1.4 cm on the right and 1.1 cm on the left. A Positron Emission Tomography (PET) CT was done in October of 2015 and revealed metabolic activity in the right axilla as well as patchy radiotracer uptake involving the vertebral column corresponding to the CT findings ().
A fine needle aspiration (FNA) of the right axillary lymph node was performed in November of 2015 but was negative for malignancy. Of note, the CEA, CA 19-9, and CA-125 levels were all within normal limits (2.08 ng/mL, <1 U/mL, and 6.4 U/mL, respectively). The patient was not seen by oncologist until March of 2016 when she was started on anastrozole until further work up was done. A repeat mammography and breast ultrasound showed only bilateral axillary lymphadenopathy. A bone biopsy of a right sacral lesion confirmed metastatic breast invasive ductal carcinoma with IHC positive for CK-7, GATA-3, ER, and PR but negative for CD45, CD138, and HER2 ().
Three months later, she was switched to palbociclib and letrozole in the hope of achieving longer disease control. She enjoyed stable disease for 18 months but eventually progressed in February 2018, presenting with weight loss, new lung, liver, and significant peritoneal carcinomatosis with ascites. Due to her rapid, aggressive, and symptomatic progression, she was initiated on chemotherapy with weekly paclitaxel 80 mg/m2, of which she only received 2 cycles due to neutropenia, worsening ascites, and lower extremity edema requiring hospitalization. Due to her intolerance of chemotherapy, she was switched to fulvestrant; however, she had no response and she required another hospitalization due to her symptomatic anasarca. After further discussion, the patient opted for hospice care and she unfortunately expired in April 2018 within a few days of hospitalization. |
pmc-6408990-1 | We present a 60-year-old white British female patient, who was admitted to the hospital with unilateral ankle pain and swelling, stage-3 acute kidney injury (AKI), and haematuria. She had recently been discharged from hospital, after being treated for a urinary tract infection (UTI) and AKI.
On admission, the patient was initially treated with IV fluids and started on oral Prednisolone at 25 mg daily by the Rheumatology team, for what they suspected to be a flare-up of her known rheumatoid arthritis, after a deep vein thrombosis (DVT) was ruled-out on venous ultrasound-Doppler.
Extensive investigations were initiated to diagnose the aetiology of the AKI. She was also started on a broad-spectrum antibiotic (Tazobactam + Piperacillin) in-view of positive urine dip and microscopy, and urine culture later grew Glycopeptide-resistant Enterococcus sp., for which Daptomycin at 4 mg/Kg was initiated, based on microbiologist advice. Prednisolone had been discontinued the day before.
Within fifty minutes of receiving the first dose of Daptomycin, the patient suffered from two tonic-clonic seizures which were five minutes apart, these lasted approximately two minutes each, and both terminated spontaneously. Further neurological examination revealed no focal deficit. A single, further, generalised seizure occurred 2 hours later for a few minutes, but no others were observed afterwards.
Her mean arterial pressure on that day was 130 mmHg and her oxygen saturations ranged between 94 and 97%. A plot of her elevated BP for the preceding week is shown in .
Her haemoglobin was 105g/l, urea was 13.8 mmol/L, creatinine was 228 micromol/L, eGFR by MDRD was 19ml/min, and C-reactive protein was 14 i.u., and her liver function tests, calcium, and phosphate were normal.
A CT-scan of the head, displayed in , showed an area of low density in the occipital lobes on both sides sparing the overlying cortex and involving the underlying white matter. It also showed a further area of low density in the right frontal region. The differential diagnosis provided by the Radiologist included ischaemic changes, posterior reversible encephalopathy syndrome (PRES), or infective changes, the latter was reported as least likely.
The patient had been persistently hypertensive for at least forty-eight hours prior to the onset of seizures, without any abrupt elevations in blood pressure. She was started on a Labetalol infusion and transferred to ITU for intubation/ventilation, and a phenytoin infusion was initiated as she suffered from a third seizure whilst in the CT department. Daptomycin and Tramadol were then stopped; all other medication was continued.
Brain MRI venogram confirmed symmetrical white matter signal changes within the occipital lobes bilaterally without diffusion restriction, with more patchy white matter changes superiorly within both frontal lobes which were more pronounced on the right.
EEG showed frequent brief runs of generalised semirhythmical slow activity at times with sharp components throughout the recording, which could be postictal or related to diffuse cerebrovascular disease.
Brain MRI was repeated three weeks later and showed substantial resolution in the changes described on the previous scan with modest nonspecific residual changes only.
The patient had a few partial seizures thereafter, but eventually she was successfully weaned off antiepileptics and was discharged from hospital.
Her past medical history included hypertension, chronic obstructive pulmonary disease, pulmonary embolism, diabetes mellitus, rheumatoid arthritis, dyserythropoiesis probably secondary to disease-modifying anti-rheumatic drugs, recurrent UTI's, and depression. She was on the following regular medications: aspirin, simvastatin, metformin, leflunomide, hydroxychloroquine, epoetin, folic acid, solifenacin, chlorphenamine, omeprazole, ranitidine, quinine sulphate, cocodamol, pregabalin, tramadol, citalopram, and inhalers, all from admission, eight days before. She had no known drug allergies. She was a current smoker with history of over 30 pack-year smoking. |
pmc-6408993-1 | A 49-year-old male, a smoker of 15 packs/year, previously healthy, presented with a ten-day history of a sudden cough, associated with shortness of breath and left-sided chest pain. The patient also gave a history of loss of appetite and weight loss of about 15 kilograms for the past three months. On admission, his blood test revealed a drop in hemoglobin from 14.3 g/dL to 8.6 g/dL. The chest X-ray on admission showed bilateral lung opacity (), and pleural tapping was done, which revealed a bloody content. Thoracic surgery service was consulted to evaluate the hemothorax.
A CT scan of the chest with IV contrast was done, and it showed massive bilateral hemothorax, more on the left side causing lung collapse, but no evidence of contrast extravasations (Figures –). Immediately, a chest tube (size: 28 Fr) was inserted in the left side, which yielded around 1000 mL of blood (). The following day, the patient condition remained the same, and he was still complaining of shortness of breath and tachycardia. Thus, the patient was shifted under the care of thoracic surgery. A second chest tube (28 Fr) was inserted on the left side, and a pigtail was inserted on the right side. The right-sided pigtail yielded about 2700 mL of dark-colored blood. After the insertion of the previously mentioned tubes, the patient condition improved significantly, and the patient was stabilized. The following day, the patient underwent video-assisted thoracoscopy (VATS) pleural exploration and biopsy; it showed a nodular pleura and normal-looking lungs. Multiple biopsies were taken from the pleura and were sent for histopathology testing. |
pmc-6408996-1 | A 61-year-old policeman, with no previous urological history, presented with a large exophytic, cauliflower-like, and partially ulcerated lesion, measuring 7x4 cm located at the dorsal surface of the penile shaft (). The patient reported a past medical history of hypertension but was otherwise fit and healthy. He was sexually active, denied erectile dysfunction, and had never smoked. On palpation, the lesion was large but mobile and did not appear to invade the corpora cavernosa. Physical examination confirmed the absence of palpable inguinal nodes, and routine laboratory tests (including Alkaline Phosphatase and Calcium levels) were within normal limits. After excluding infections, including sexually transmitted diseases, an incisional biopsy of the lesion revealed the presence of low-grade squamous cell carcinoma and the absence of lymphovascular invasion. Staging CT of the chest, abdomen, and pelvis did not demonstrate metastatic disease or enlarged lymph nodes.
After discussion, further surgical management was decided, including excision of the primary lesion and reconstruction of the tissue gap. The patient underwent wide local excision of the affected area of skin in the penile shaft, and intraoperative frozen section analysis was used to confirm margin negativity. A circumcision was also performed, and the penis was grafted with a partial-thickness skin graft. In particular, a 0.4 mm split-skin graft was harvested from the lateral thigh with an air dermatome and was used to cover the tissue defect. The graft was quilted using 5–0 interrupted polyglactin sutures. The patient made an excellent recovery with resolution of symptoms and restoration of sexual function. A satisfactory cosmetic result was recorded at 3 and 6 months postoperatively ().
Histological examination confirmed the presence of a very well-differentiated neoplasm with sharp delineation at the tumor-stroma junction. On microscopy, the tumor exhibited hyperkeratosis, papillomatosis, and acanthosis. The tumor front was broad-based and pushed the subepithelial tissues. Small foci of clear-cut infiltration of subepidermal connective tissue, however, were also present. The neoplastic cells were well-differentiated, with minimal deviation from normal squamous cells and small, bland, round, or vesicular nuclei. Cellular atypia was focal and minimal, while mitoses were rare (Figures and ). The morphological findings were consistent with verrucous carcinoma of the penis. Lymphovascular invasion or perineural invasion was not identified (pT1a disease).
Based on final histology, the patient was classified as low risk for nodal involvement and was managed with surveillance for recurrence at the primary site and the groin areas as per current guidelines. Clinical examination and follow-up imaging up to 3 years postoperatively showed no locoregional recurrence or distant metastases. |
pmc-6409004-1 | A 34-year-old female, with preoperative BMI of 42.8, status postlaparoscopic Roux-en-Y gastric bypass (LRYGB) with normal postoperative upper gastrointestinal series three weeks prior, presented with a two-hour history of severe epigastric and upper abdominal pain after ingesting a large piece of meat. Vital signs were stable. On physical examination, she was tender in the upper abdomen without peritoneal signs. The rest of her exam was unremarkable. White blood cell count was elevated to 15.3K with otherwise normal labs. Differential diagnosis of food impaction was made and EGD was recommended. Interestingly, the patient had an uneventful EGD prior to her surgery. Before IV sedation was administered, the patient reported that she was uncomfortable and felt the endoscope in the back of her throat during the last procedure, and so she received 5 sprays of 20% benzocaine prior to intubation. The EGD demonstrated an empty stomach and a relatively tight gastrojejunostomy with stigmata of recent food impaction, including erythema, excoriations, and mild edema. There were no signs of aspiration at the end of the procedure, but she was noted to be extremely drowsy despite only receiving 50mg Fentanyl and 2mg Versed. As such, attempts were made to rapidly reverse these medications with Naloxone and Flumazenil before transferring her to the postanesthesia care unit (PACU), while in PACU she was initially oriented but suddenly became obtunded, then unconscious, cyanotic, and desaturating to mid-1980s. Nonrebreather mask oxygen did not improve her saturation. Given this, she was intubated and an arterial blood gas was drawn. During the blood draw, the blood was noted to be dark brown to black in color. The results of the ABG were as follows: pH, 7.43; PaO2, 217 mm Hg; PaCO2, 28.1 mm Hg; and methemoglobin, >30%. Cyanosis in the setting of recent topical anesthetic use, along with her ABG results, gears toward the diagnosis of methemoglobinemia and 100 mg of 1% methylene blue was given intravenously over 30 minutes with incremental improvement of her respiratory parameters and cyanosis. She was subsequently transferred to the intensive care unit. Repeated ABG showed a methemoglobin concentration of 5.5% after one hour. Patient had successive ABG analyses over the next couple of hours showing progressive decrease in methemoglobin levels: 30%, 5.5%, and 2.4%. She fully recovered two hours after onset. She was extubated the following day and was discharged home on the fourth post-EGD day. One week later she was seen in clinic for follow-up and was doing well. |
pmc-6409008-1 | A 44-year-old female presented to the emergency room with sudden onset sharp right lower quadrant pain, nausea, and vomiting. On physical exam, she was positive for McBurney's, Rovsing's, psoas, and obturator signs. Her white blood cell count was elevated at 16.5. CT scan showed signs of appendicitis as well as suspicious intraabdominal soft tissue masses (). Five years earlier, she presented to a different hospital with diffuse abdominal pain, and CT scan identified a small bowel lesion; endoscopic biopsy showed GIST. She underwent SB resection without complications. No pathology was available, and according to the patient, no adjuvant chemotherapy was given; on her one-year follow-up CT scan, no evidence for tumor recurrence was found with no additional oncologic follow-up. She remained symptom-free for the next several years, until this episode.
Secondary to the CT findings suggestive for appendicitis, nonoperative management and further workup were contemplated. The RLQ masses were most concerning for recurrent GIST, and after discussion with the patient, indication for surgery was made. On diagnostic laparoscopy, the appendix wall was found thickened and acutely inflamed with nodular lesions. In addition, multiple up to 2 cm in diameter nodules on the terminal ileum and the parietal peritoneum of the anterior and lateral abdominal walls were visualized (). One larger nodule in the right pelvis could not be mobilized. The liver was found to be free of any lesions. Due to the volume of the separate masses and inability to mobilize the large right pelvic nodule out of the pelvis, the case was converted to laparotomy. A lower midline incision was made. The appendix was mobilized, the mesoappendix was secured using a stapler, and the appendix was resected at the base and handed off for pathology. All visible nodules were then removed from the peritoneum, and a partial resection of the terminal ileum was performed. When the small bowel was run from the terminal ileum to the jejunum, at 100 cm from the TI, narrow-based Meckel's diverticulum with multiple nodular lesions was found. The diverticulum was resected at the base using a stapler. On pathology, acute appendicitis was seen; however, also serosal involvement of metastatic GIST was noted in all specimens including the appendix and the Meckel diverticulum. The tumor stained positive for CD68, CD117, and vimentin.
The patient had an uneventful recovery and was discharged from the hospital on postoperative day five. The patient was started on imatinib, and at the 6-month interval, she was doing well without any complaints; CT scan showed no evidence for recurrent GIST. She was then lost to follow-up when she moved. |
pmc-6409012-1 | A healthy 22-year-old male presented with a two-week history of hemoptysis, weight loss of 10 pounds, generalized fatigue, and persistent night sweats. On physical examination, he had scattered rhonchi in both lungs. There was no palpable peripheral lymphadenopathy or organomegaly in the abdomen. The testes were normal to exam without palpable masses. The CT of the chest revealed innumerable pulmonary nodules concerning for metastatic disease (). CT abdomen showed a 6.9 × 8.0 × 7.6 cm retroperitoneal mass. An US of the testicles was done showing an ill-defined hypoechoic structure measuring 8 mm within the right testicle. He underwent a CT-guided lung nodule biopsy, which revealed metastatic choriocarcinoma. The serum B-hCG level was 274,465 IU/L. The patient underwent right orchiectomy consistent with choriocarcinoma. A diagnosis of stage IIIC choriocarcinoma of the right testis with metastasis to the retroperitoneum and lungs was made. He delayed the treatment to seek another opinion and elected to proceed with sperm banking. 16 days after diagnosis, the patient returned to the emergency department with worsened hemoptysis, melena, tachycardia, tachypnea, and hypoxia. His serum B-hCG level had increased to 1,629,195 IU/L. The patient was transferred to the medical intensive care unit, and chemotherapy was started on an urgent basis with etoposide, ifosfamide, and cisplatin (VIP) with mesna support.
Over the next few days, his respiratory status declined as he developed severe acute respiratory distress syndrome and, therefore, was intubated. Due to the high tumor burden and worsening of his clinical status after the initiation of chemotherapy, a diagnosis of choriocarcinoma syndrome was made. He completed 5 days of planned chemotherapy but remained in critical condition needing increased ventilator support. In spite of maximal respiratory support, the patient remained hypoxic. Extracorporeal membrane oxygenation was considered, but due to gastrointestinal bleeding, he was not a candidate. He eventually passed away due to hypoxic cardiac arrest. |
pmc-6409020-1 | A 67-year-old woman was admitted to our hospital with a seven-day progressive hemisyndrome with left-sided limb ataxia and hypesthesia. On admission, the patient yawned with a high frequency (>3/minute) and partially in salve-like episodes (>8 yawns). There was no increased level of fatigue or boredom. Yawning was accompanied by nausea and vomiting. There were no cranial nerve deficits. The cranial MRI showed moderate leukoaraiosis not suggestive of inflammation and a signal enhancement of the coregistered myelon up to the lower medulla. The cervical MRI then revealed the full extent of the cervical myelitis over more than three vertebral segments (see Figures and ). The cerebrospinal fluid (CSF) showed a slight pleocytosis with lymphocytes (7 cells) without elevation of CSF protein. CSF-restricted oligoclonal IgG bands were present. The visual evoked potentials were normal on both sides. The diagnostic criteria for a NMOSD were fulfilled: positive test for AQP4-IgG and acute myelitis []. There was no evidence for alternative diagnoses such as other systemic autoimmune, infective, vascular, neoplastic, or paraneoplastic disease. The patient had a history of autoimmune hepatitis with increased ANA titer, which was inactive under long-term treatment with low-dose azathioprine. Under initial high-dose treatment with methylprednisolone, followed by plasmapheresis and immunoadsorption, clinical symptoms of ataxia and hypesthesia and the spinal cord enhancement on MRI were regressive within 10 days (see Figures and ). Consequently, the frequency of yawning normalized and no more salves of yawning were observed. Treatment with rituximab was initiated. |
pmc-6409028-1 | Female patient, aged 57 years, BMI=23, was planned to undergo elective thyroidectomy, due to multinodular goiter. Her medical history included arterial hypertension, controlled with beta blocker and angiotensin receptors II antagonist. The patient has satisfactory physical status with no symptoms from cardiac and respiratory systems (no dyspnoea or coughing, no smoking history, asthma or COPD, >4 METS). No other concerns were raised regarding her family or previous anaesthetic history (she had received general anaesthesia 10 years ago for appendectomy without complications). Physical examination and laboratory testing did not reveal any findings and the patient had no prognostic factors of difficult airway management (Mallampati classification: II, thyromental distance > 6 cm, interincisional gap> 4 cm, and cervical spine extension > 90°). Chest X-ray was normal, regarding lung parenchyma but with slightly enlarged cardiac silhouette. This finding, in conjunction with Q waves, seen on ECG, made further cardiologic consultation necessary. However, no signs of cardiac disease were revealed, either by clinical examination, or by transthoracic ultrasound performed. The patient was scheduled for the operation a few days later and discharged home with the appropriate recommendations for medications and preoperative fasting.
On the day of operation, after establishment of the basic monitoring and intravenous line, anaesthesia was induced with midazolam 2 mg, Fentanyl 3 μg/Kg, and Propofol 2.5 mg/Kg and muscle relaxation was achieved with Cisatracurium 0.2 mg/Kg. Mask ventilation was difficult but pretty adequate. During first attempt of intubation, direct laryngoscopy resulted in a Cormarck=Lehane III and despite the use of elastic bougie was unsuccessful without passing the vocal cords. An LMA # 4 was inserted and a more experienced anaesthetist was called. At that time SpO2 was dropped to 95% with FiO2=1 with controlled ventilation with MV= 3.5 L/Min and adequate capnometry. After several minutes of ventilation with LMA and as SpO2 was 99% intubation was reattempted with the use of C-mac videolaryngoscope (Karl Stortz® Tuttlingen, Germany) and an elastic bougie. Second attempt was successful, as laryngoscopic view was significantly improved (Cormarck-Lehane: IIa), without any suspicion of airway trauma. A 7.5 mm neural integrity monitor (NIM) electromyogram (EMG) tracheal tube (Comepa®, Bagnolet, France) was used for intubation. Attention was paid for the proper placement of the tube (the silver color-coded contact band placed between the vocal cords). Anaesthesia was then maintained with desflurane 1 MAC in air/oxygen with FiO2=0.5.
Despite adequate ventilation (MV=5 L/min, Vt=480, RR=11, PEEP=3, and EtCO2=38mmHg) a sudden drop in SpO2 was observed during the next 2 minutes after intubation. SpO2 dropped at 75% with FiO2=1, with a concomitant hypotension (75/40 mmHg) and tachycardia (95bpm). Respiratory monitoring showed only slightly elevated Peak Inspiratory Pressure (28cmΗ2O). Since this incident happened before commencement of the operation, surgical drapes were removed and the patient was manually ventilated. During manual ventilation, it was observed that positive ventilation led to greater SpO2 drop, while stopping ventilation with open airway pressure release valve and FiO2=1 (apnoeic oxygenation), resulting in improvement of SpO2 (85-87%). Chest auscultation revealed excessively reduced sounds in the right hemithorax. Based on these clinical findings, the suspicion of tension pneumothorax was raised. A thoracic surgeon was immediately called, along with bed-side X-ray. The thoracic surgeon performed emergency insertion of a 14G venous cannula to the 2nd intercostal space at midclavicular line with immediate drainage of bubbles and haemorrhagic fluid and improvement of hemodynamics (BP: 95 mmHg, HR: 88 bpm) and SpO2: 92%. Chest X-ray confirmed the diagnosis of pneumothorax (). A thoracostomy tube was inserted with further improvement of oxygenation and drainage of 100 ml haemorrhagic fluid. The operation was postponed and the patient was transferred to the CT-suite, under sedation and controlled ventilation. CT scan revealed haemothorax and pneumothorax to the right hemithorax (), perihepatic fluid collection, and fluid in the Morison's pouch. Moreover, the diagnosis of multiple bullae was posed. The patient returned to the Postanesthesia Care Unit under sedation. ABG analysis was satisfactory (pH=7.35, PO2=123 mmHg with FiO2=0.5, and pCO2=38 mmHg). Hence, recovery from sedation and extubation was decided, which was uneventful. The patient was discharged a few days later. After investigation for pulmonary cystic disease, the patient underwent two stages of bilateral thoracotomy for partial parietal pleurectomy, lung apicectomy, and bullectomy, during the next few months (). One year later she underwent total thyroidectomy for multinodular goiter without any perioperative complications. |
pmc-6409034-1 | A 45-year-old woman without any history of trauma presented with a painful and hard mass located within her right thumb pulp. The tumour showed adherence to deep tissues but not signs of local inflammation. Standard radiographs were unremarkable. The ultrasound examination of the tumour reported an encapsulated mass with regular and well-defined margins.
Doppler ultrasound using angio PL.U.S mode showed a homogenous ovoid mass with peripheral ring-like vascularization ().
SWE performed (Aixplorer®, Aix-en-Provence, France) using a high-frequency probe (SHL 15-4, average frequency 12 MHz) centred with a quantitative Q-box, with a circular region of interest of 3 mm diameter, on the mass revealed shear wave speed and modulus of elasticity of, respectively, 7.2 (6.6-7.8) m/s and 157.8 (129-181.5) kPa in the transverse plane and 5 (4.6-5.7) m/s and 75.8 (63.1-96.4) kPa in the sagittal plane (). The Q-box circle has a maximal precision of 1 mm; therefore, very small tumours can be detected and analysed.
Surgical excision of the tumour () was carried out and the histopathological examination revealed a deep lobular capillary haemangioma (). The postoperative follow-up was without complications. |
pmc-6409038-1 | A 74-year-old man presented with a chief complaint of a right-sided sore throat with odynophagia. He was febrile and had decreased his oral intake due to difficulty and pain swallowing. He was admitted from the emergency room to the ENT service due to concerns of airway edema, right oropharyngeal swelling, and right parotid tenderness. Edema and swelling involving the mucosa of the right palatine tonsil, oropharynx, uvula, base of tongue, and epiglottis with additional edema in the right masticator space were noted on flexible laryngoscopy. The significant oropharyngeal swelling caused leftward deviation of the uvula as well as trismus that was initially worrisome for a peritonsillar infection.
Ampicillin and steroids were given; however, he continued to have oropharyngeal prominence. Subsequently, an interval CT scan of the neck was obtained, revealing a hypodense deep parotid lobe sialocele measuring approximately 5.0 × 0.9 cm extending to the parapharyngeal space and exerting mass effect on the oropharyngeal airway. No prominent sialolith was noted. Several deep jugular chain lymph nodes in level II were also mildly prominent. The fluid collection was drained transorally via an incision lateral to the palatine tonsil along the anterior tonsillar pillar. Approximately 20 cc of frank purulence was drained. A swab of the oropharynx revealed Gram-positive and Gram-negative rods consistent with normal oral flora. No anaerobes were isolated. After drainage, the patient showed significant clinical improvement immediately without need for drain placement. He was discharged on a two-week course of amoxicillin with a steroid taper, warm compress, sialogogues, and pain control (Figures –). |
pmc-6409050-1 | Our indexed patient is a 28-year-old Han Chinese female living in Hong Kong who has suffered from recurrent episodes of angioedema since adolescence, with an increasing number of attacks as she entered adulthood. These episodes occurred annually in the past, but have now increased to every two to three months. The edemas are not itchy and the affected areas include common swelling sites such as the left and right forearms; there is no throat involvement. The patient also complains about epigastric pain. The patient's mother suffers from similar symptoms (although with greater severity than the patient), suggesting a hereditary component of the patient's disease. The patient's serum C1-INH level (patient: <0.03 mg/mL, reference: 0.224–0.387 mg/mL) and C1-INH function (patient: 0.12 U/mL, reference: 0.7–1.3 U/mL) were both low; attenuation of C1-INH function was expected due to the patient's low serum C1-INH concentration. The patient's C3 level was normal but the C4 level was also low, which could be explained by the loss of C1-INH, which accelerated the consumption of C4. These results collectively indicated a C1-INH deficiency, which manifests in type I HAE.
We began analyzing the patient's SERPING1 gene by Sanger sequencing but found no abnormality; we suspected that our result could be due to a large DNA deletion that may not be detectable by Sanger sequencing since the variant allele would not be amplifiable. To investigate this, we employed the MLPA assay, a sensitive assay that allows the detection of DNA copy number changes of up to 45 loci in one relatively simple, semiquantitative PCR-based reaction. Using this technique, we found that the DNA copy numbers of exons 5 and 6 were half of the other exons in the same SERPING1 gene (), suggesting heterozygous deletions for each of these two exons. Because HAE is an autosomal dominant disorder, our finding of heterozygous SERPING1 deletion by the MLPA assay corroborated the patient's clinical history.
The sequences of exons 5 and 6 are both short (204 and 140 bps, respectively). Given their small size and close proximity (they are only 194 bps apart), we deduced that the deletion was most likely a large genomic DNA deletion that spanned across both of these exons (i.e., cis phase), instead of two separate deletions of exons 5 and 6 on different DNA strands (i.e., trans phase). The total length, including the introns before exon 5 and after exon 6, was 9,547 bps. This segment was too large to be amplified by conventional PCR, and, therefore, to confirm the deletion, we used long-range PCR to amplify the segment between exons 4 and 7. As resolved by gel electrophoresis, we observed two PCR products at different lengths; one was at the expected molecular size of approximately 10,000 bps, whereas the other smaller PCR product was approximately 8,000 bps (data not shown). This smaller PCR product was likely contributed by the variant allele with the deletion. Notably, the presence of these two PCR products supported our prediction that the patient carries a large DNA mutation that covers exons 5 and 6 in the cis phase, instead of a deletion of exon 5 and a deletion of exon 6 on separate DNA strands, as this would have produced two smaller PCR products instead of one. Unfortunately, Sanger sequencing can only process sequences of approximately 1,000 bps or shorter, so the approximately 8,000-bp PCR product was too large to be directly tested by this approach. In order to precisely locate the boundaries of the deletion, we first designed several primer pairs amongst different regions between exons 4 and 7 to scan for the deletion. One pair of these primers (Supplementary ) produced heterozygous PCR products from the patient's genomic DNA (). Using the gel purification method, the smaller PCR product was then isolated and subjected to Sanger sequencing (). From this smaller PCR product, which was anticipated to be from the variant allele, we were able to determine that the deletion was 2,009 bps long and between positions 12,156 and 14,164 on the genomic DNA (i.e., NG_009625.1:g.12156_14164del2009). This large genomic DNA deletion has lost both exons 5 and 6, leading to the truncation of a 500-amino acid protein into a 252-amino acid protein (i.e., a deletion of 272 amino acids and substitution of 24 nonsense amino acids) (). This variation is considered to be “pathogenic” according to the ACMG 2015 guidelines []. Although some reports have discussed deletions of exon 5 and/or exon 6, these reported deletions were larger, approximately 4-6 kbps in size [–], and this particular 2,009 bps deletion variant encompassing exons 5 and 6 that we have detected has not yet been previously described. Essentially, our molecular findings explained the cause of the patient's low C1-INH level and function.
The patient's mother suffers from similar symptoms (but with greater severity in comparison to the patient) and displays laboratory findings that are comparable to those of the patient (i.e., serum C1-INH level, mother: <0.03 mg/mL, reference: 0.224–0.387 mg/mL; and C1-INH function, mother: 0.09 U/mL, reference: 0.7–1.3 U/mL). The mother's genomic DNA was also subjected to the MLPA assay and Sanger sequencing, and the same mutation found in the patient was also detected in the mother (i.e., NG_009625.1:g.12156_14164del2009), indicating that the patient's mutation was inherited from the mother and that the detected mutation is not de novo for the patient. However, whether the mother's mutation is de novo remains inconclusive as samples from the grandparents or the mother's siblings were not available for further investigation. |
pmc-6409058-1 | A 21-year-old male with a background of mild childhood asthma presented to ED with sudden onset of chest and neck pain. He had self-administered salbutamol believing he was having an asthma attack, to no effect. The patient denied any trauma or infective symptoms and had no cardiovascular risk factors or past medical conditions. He had been to the gym two days prior where he partook in his usual weightlifting routine and had not engaged in any unusually strenuous activities. However, he did admit to inhaling a small amount of cocaine and ingesting two ecstasy pills (3,4-methylenedioxymethamphetamine, MDMA) approximately 20 hours prior to the onset of symptoms while out dancing with friends.
On examination, there were no signs of airway compromise, and subcutaneous emphysema was evident in bilateral subclavian regions. Tachycardia, hyperthermia, and hyperreflexia were present. Nasendoscopy showed normal anatomy and airway. Blood tests revealed a mildly raised creatine kinase (CK) of 231 and leukocytes count of 14. Chest X-ray showed significant pneumomediastinum and subcutaneous emphysema () with subsequent computed tomography (CT) showing retropharyngeal emphysema extending from the aortic arch to the base of skull (Figures and ). There was no evidence of pneumothorax or pneumorrhachis. A gastrografin swallow study showed no contrast extravasation.
He was admitted to hospital for monitoring and conservative management. Follow-up X-ray on day 3 of admission showed resolving pneumomediastinum and subcutaneous emphysema, and he was discharged that same day. |
pmc-6409059-1 | A 28-year-old male presented to the emergency department with a two-day history of epistaxis and one-day duration of painless gross hematuria. He described his urine initially “fruit punch-like” with progression to “somewhat like ketchup” prior to presentation. He denied dysuria, frequency, urgency, incomplete bladder emptying, clot formation, and flank or abdominal pain. The patient denied any previous episodes of hematuria, history of nephrolithiasis, smoking tobacco, genitourinary malignancies, or any kidney issues in the past. On presentation, the patient was found to have an International Normalised Ratio (INR) greater than 11 despite no prior history of anticoagulation or hepatic dysfunction. Serum laboratory findings were significant for hemoglobin of 13.3, white blood count of 18.9 × 103/μL, and creatinine of 0.9 mg/dL (). Urinalysis demonstrated >100 RBCs and >100 WBCs. CT urogram with IV-infused iodine contrast solution was negative for upper tract pathology. Urine cultures taken at the time of admission was contaminated, and no additional cultures were taken. Further discussion with the patient revealed that the patient smoked Spice intermittently, and the last smoking episode was 24 hours ago. The SC specimen was not available for evaluation. His INR downtrended to 2.9 after four units of fresh-frozen plasma were administered, and his gross hematuria resolved by the time of discharge a day later with INR of 1.9. The patient was encouraged to follow-up for a cystoscopy in three days; however, he was lost to follow-up and his hematuria and coagulopathy could not be further assessed. |
pmc-6409063-1 | An 86-year-old Mexican postmenopausal woman with no remarkable family history of cancer was referred to a gynecologic consult. As a pathological personal history of importance she has medical history of hypertension since she had 40 years old. A previous diagnosis of lobular cancer of the left breast (30 years ago) was made and treated with radical breast mastectomy associated with unilateral axillary lymph node dissection. The pathology report was consistent with lobular carcinoma with no positive lymph nodes and ER/PR+ and Her-2Neu+. After surgery, she received adjuvant chemotherapy with no data about available.
She came to our hospital with a 3-month complaint of abnormal uterine bleeding.
As part of the approach, a transvaginal US was performed and everything was under normal parameters, except for an endometrial thickness of 15mm with heterogeneous echogenicity; however it had no focal thickening; the US was not conclusive for any diagnosis. Therefore the patient underwent to a dilatation and curettage biopsy to take an endometrial biopsy for tissue diagnosis.
Microscopic examination revealed epithelial cells infiltrating the endometrial stroma in certain areas; normal endometrial stroma was also identified.
The first diagnostic impression was a metastasis from primary cancer in the patient, to corroborate it immunohistochemistry staining (IHC) were requested and endometrial specimens were positive for GATA-3, ER and mammaglobin antigens and negative for PAX-8, CDX-2, and vimentin (). The positivity for these markers indicated us and supported the diagnosis of lobular breast carcinoma metastasis to endometrium. The patient was referred to oncology for treatment. |
pmc-6409068-1 | The patient was a 34-year-old Japanese woman (gravida 5 para 2, including 2 miscarriages) with blood group O type RhD (+). She was referred to our department in the 29th week of her fifth pregnancy for perinatal management. She had no relevant medical history and had never received a blood transfusion. Screening performed when she was pregnant with her first child revealed Jr(a-) and anti-Jra with a titer of 1:512. Her Jr(a-) genotype was c.376T/T and c.421C/C. Her partner was Jr(a+) with c.376C/C and c.421C/A. Her first child of 2590 g was delivered at 36 weeks of gestation by cesarean section (CS) at a different hospital due to breech presentation and did not have any other episodes of anemia or jaundice. When pregnant with her second child, the titer of anti-Jra changed from 1:128 to 1:256. Her second child was delivered at 37 weeks and 6 days of gestation by planned repeat CS at a different hospital due to previous CS. Her second child of 2808 g was diagnosed with anemia (Hb 8.4 g/dL) based on a positive direct antiglobulin test (DAT), but did not display jaundice. The second child was diagnosed as being heterozygous for c.376C/T with c.421C/C and exhibited the Jr(a+) phenotype.
Her current pregnancy was a naturally conceived and normal singleton pregnancy. The titer of anti-Jra at 20 weeks of gestation was 1:256. No other antibodies against blood group antigens were identified. The fetus was monitored by ultrasound scans and Doppler measurements of the peak systolic flow velocity of the fetal middle cerebral artery (MCA-PSV). Although the titer of anti-Jra did not change (1:256), the MCA-PSV level began to increase at 24 weeks and exceeded 1.55 multiples of the median (MoM) at 28 weeks (). She was referred to our department at 29 weeks and 6 days due to suspected fetal anemia. Our ultrasound examination showed that the estimated fetal body weight corresponded to the Japanese standard for the gestational age and that there were no fetal or placental structural abnormalities. The MCA-PSV level (65.6 cm/s) was >1.55 MoM (). The fetal cardiothoracic area ratio (CTAR) was 42.0% without any signs of hydrops, such as ascites or skin edema. The next day, percutaneous umbilical cord blood sampling (PUBS) was carried out and revealed fetal severe anemia (Hb 3.5 g/dL, Hct 9.9%) (). An immediate IUT via the umbilical cord was performed with group O RhD (-), Jr(a+) concentrated RBC units. After the first IUT, the Hb and Hct levels increased to 7.2 g/dL and 22.1%, respectively (). On the sixth day after the first IUT (30 weeks and 6 days), the titer of anti-Jra increased from 1:256 to 1:512. The IgG subclass was found to be IgG1 and IgG3. On the seventh day after the first IUT, the MCA-PSV level was >1.55 MoM, suggesting the exacerbation of fetal anemia (). Thus, a second PUBS and a second IUT was performed with group O RhD (-), Jr(a+) concentrated RBC units on the ninth day after the first IUT. The fetal Hb and Hct levels before the second IUT were 6.1 g/dL and 18.6%, respectively (), while those after the second IUT were 9.5 g/dL and 29.1%, respectively (). After the second IUT, an ultrasound examination showed that the MCA-PSV level remained within the normal range and that the CTAR level had normalized to 31.6% (). She returned to her referring hospital, where she was managed from 32 weeks of gestation. At 34 weeks of gestation, the fetal MCA-PSV and CTAR levels increased to <1.5 MoM and 39%, respectively (). The exacerbation of fetal anemia was suspected; thus, a repeat CS was performed at 35 weeks and 1 day of gestation due to previous CS at the referring hospital. The neonate of 2114 g had anemia (Hb 9.2 g/dL, Hct 28.4%) with a positive DAT, without jaundice (total bilirubin 1.7 mg/dL) (). On the second day after birth, the neonatal anemia worsened (8.0 g/dL) and a blood transfusion was performed. Neither neonatal anemia nor jaundice developed after the single blood transfusion. The neonate was discharged from the hospital without phototherapy.
To investigate the phenotype and the Jra antigen density of the neonate, an analysis of the ABCG2 gene was performed at Japanese Red Cross Tohoku Block Center. Genomic DNA was extracted from the peripheral blood and PCR-SSP was used to examine the genetic base substitutions at positions 376, 421, 1515, and 1723, which are most common in Japanese Jr(a-) individuals []. The neonate's phenotype was classified as Jr(a+); the neonate was heterozygous for c.376C/T with no mutation at position 421 (c.421C/C), which was the same genotype of the second child. |
pmc-6409071-1 | The patient was a 58-year-old man with 1-month history of pain in the left shoulder with no history of trauma. He had been treated for rotator cuff tendinopathy at a local orthopedic clinic with nonsteroidal analgesics. The pain had worsened 6 hours before his arrival at the emergency department. He had no hypotensive drugs or anticoagulant agents. Physical examination could not be performed due to motion pain and the range of movement of the left shoulder was severely limited in all directions. Radiographs showed irregularity of the greater tuberosity and the undersurface of the acromion but the acromiohumeral distance was normal. MRI demonstrated large hematomas in both the glenohumeral joint and the subacromial space and bony erosion of the lateral acromion (). Pain was relieved by aspiration of approximately 45 mL of blood. Six hours later, he revisited the emergency department because of recurrence of unendurable pain.
Arthroscopy was performed on the same day to confirm the diagnosis and control bleeding. There were no abnormal findings in the glenohumeral joint except for a chronic tear of the biceps tendon (). There was a defect in the rotator interval but the supraspinatus tendon was intact. Proliferative synovitis was not observed in the subacromial bursa and no tumorous lesions such as pigmented villonodular synovitis (PVNS) were seen. A crater-like erosion was observed on the undersurface of the acromion, at which bleeding was seen (). Bleeding points were coagulated with a radiofrequency system and anterior acromioplasty was performed with a motorized shaver arthroscopically (). Abnormal bleeding was not noted after acromioplasty. A drain was placed in the subacromial space through the anterolateral portal before closure and it was removed on the third day after surgery. At the 48-month follow-up, there had been no recurrence of hemarthrosis and the patient was completely pain-free with full range of the shoulder motion. The UCLA score was improved from 3 points preoperatively to 35 points at the final follow-up. |
pmc-6409071-2 | A 67-year-old man complained of left shoulder pain for 2 weeks without any history of trauma. Bloody effusions were aspirated 5 times at a local orthopedic clinic during a 2-week period before the patient was referred to us. He had no previous history related to hemorrhagic factors. On examination, he had slightly limited range of motion, with active forward flexion to 160°, abduction to 120°, external rotation to 30°, and internal rotation to the fifth lumbar spine with the arm at the side. Passive range of motion was the same as active range of motion. Neer's impingement test and Hawkins test were positive. The greater tuberosity was seen irregular on radiography. MRI demonstrated a hematoma in the anterior portion of the subdeltoid bursa and bony erosion of the lateral acromion, similar to case 1 ().
Arthroscopy was performed to determine the cause of the hemorrhage. A hematoma was not observed in the glenohumeral joint. The intra-articular portion of the long head of the biceps tendon had completely disappeared. A bursal-side partial tear of the rotator cuff was noted. The size of the tear was 25 mm in the anteroposterior direction. Crater formation on the undersurface of the acromion and irregularity of the greater tuberosity were observed, which seemed to be kissing lesions (Figures and ). Active bleeding was seen at the exposed bone marrow of the acromion when the pressure of irrigation was lowered. The undersurface of the acromion was coagulated and the greater tuberosity was abraded to avoid impingement (). Acromioplasty was not performed in this case. The bursal-side partial tear was not repaired at that time ().
One month later, the patient underwent arthroscopic rotator cuff repair. The patient regained full range of motion 3 months after rotator cuff repair and returned to work as a taxi driver. At the final follow-up, 14 months after the first arthroscopy, he had no functional deficit. The UCLA score was improved from 14 points preoperatively to 35 points at the final follow-up. Hemarthrosis did not recur in the 14 months postoperatively. |
pmc-6409135-1 | A 9-month old Saudi female infant presented to the senior author for assessment of congenital lamb anomalies. The parents were healthy and con-consanguineous. The infant was born at full term (40 weeks of gestation) after an uneventful pregnancy and delivery. Birth weight and length were at the 30th centile. Family history was negative for congenital limb anomalies. Developmental milestones were normal except for limitations related to the limb anomalies. Physical examination showed left upper limb and right lower limb anomalies. The left upper limb was short with an absent elbow joint, and the hand had two digits (). The radial digit had dorsal dimelia; manifesting as a palmar nail. The ulnar digit had ventral dimelia; manifesting as absence of the normal dorsal nail along with the appearance of an ectopic pulp on the dorsal aspect of the digit ( and ).
Radiological examination of the left upper limb showed severe ulnar ray deficiency with radio-humeral synostosis and absent ulna. The hand had two metacarpals and two digital rays (). The right lower limb was hypoplastic with three digits in the foot. The preaxial digit was a well-developed big toe. The two postaxial digits were fused (syndactyly) and hypoplastic. There was no dorsal or ventral dimelia in the affected foot. Radiological examination showed proximal focal femoral dysplasia, a short hypoplastic tibia and absent fibula. Systemic examination was unremarkable. Ultrasound examination of the brain, heart, and abdomen showed no abnormalities. |
pmc-6409137-1 | A 22 years old man who was a medical student and had complain of sever axillary hyperhidrosis, while topical care had failed in his treatment. Regularly, every 3 to 4 months, he was admitted for treatment of axillary hyperhidrosis with 150 IU Botox for bilateral injection in both axillary regions. He received his first 3 injections without any complications. Each time, three 50-unit vial of Botox was injected in the axillary region bilaterally with complete response and best satisfaction of the results. The last time, instead of three 50-unit vial, in advertently, he received three 100-unit vial of Botox. After about two weeks of injection, had complain of general weakness and fatigue after an extremely exercise session. The next day, he complained of dysphagia to solid foods and choking sensation at night. Type of botulinum toxin-target site has been demonstrated in .
Then had complained of visual problems including diplopia and visual field disturbance. He visited an ophthalmologist and all of the exams included perimetry that was normal. Due to progressive dysphagia and sore throat and previous history of hypersensitivity, he realized that his dysphagia may be related to hypersensitivity; so he visited an asthma and allergy specialist. The physician after performing EKG-CXR which were normal reached to the diagnosis of eosinophilic esophagitis and referred the patientto agastroenterologist for more evaluation. Multiple biopsies of esophagus were undertaken for definite diagnosis of eosinophilic esophagitis. After doing endoscopy and biopsy, all of the reports and results of pathology examination were found to be normal. Due to continuity of his problem especially fatigue and general weakness, he came to our visit and explained the history and asked for more consultant.
According to his history and clinical examination, bilateral mild ptosis and fatigue were noted in his face and a generalized weakness was visible in his muscle. There was a fault in injection of three 100-unit vials of Botox instead of three 50-unit vials. Our clinical diagnosis was complications of Botox injection. For better evaluation, the patient was referred to a neurologist with complete history. The diagnosis of neurologists was the same as ours defined as generalized complications of Botox and treatment was started for the patient prescribing pyridostigmine. Initial response was very good in relief of general weakness and fatigue. The dysphagia was continent after one month of treatment but complete relief of patient’s symptoms occurred after three months. |
pmc-6409145-1 | A 27 years old female was treated to correct a cartilaginous irregularity of nasal dorsum. The previous surgery was done at 1 year before this procedure and the same surgeon of primary rhinoplasty has used this new device for correction of the irregularities. The cartilage resecting was done with a handy device which was named by us as “closed Nasal Chondrotome” (). Local anesthesia was done by injection of xylocaine topical solution into the nose. The patient was alert during the whole procedure with no pain and no discomfort. The surgeon began to push the device toward the cartilaginous spur via an endonasal approach and lodge the semicircle edge of the instrument to the spur and tried to cut the bulge spur by introducing the obturator of the device across the dorsum of the nose. The surgeon could assess the shape of cartilage and the integrity of that via the touching of the dorsum by his/her second hand. This procedure took 10 minutes to be completely undertaken. The patient achieved satisfactory results (). |
pmc-6409146-1 | A 5-year-old girl was referred because she had a non-usable right thumb since birth. The patient had no other congenital anomalies, no family history of anomalies and had no previous surgical intervention. On physical exam, the patient had a small and thin right thumb when compared to the left (). The thumb had no motor function (no extensor, flexor or abductor motion) and was markedly unstable due to hypoplasia of capsular ligaments around the CMC joint. Intra-operative x-rays demonstrate aplasia of the radial portion of the carpus with a hypoplastic first metacarpal (). By clinical and radiographic examination, the patient had aclassic Type IIIB hypoplastic thumb. Over a 15-month period, the patient underwent a staged surgical treatment to reconstruct the thumb.
At the initial procedure, a longitudinally placed W-plasty was performed to deepen the web space between the thumb and index finger (). Skin flaps were elevated and transposed to create a contoured deepening of the first web space to enhance thumb abduction, pinching, and grasping. Secondary to hypoplastic capsular ligaments, the thumb metacarpal base was markedly unstable, necessitating a capsulodesis procedure. The metacarpophalangeal (MP) joint was exposed and the joint capsule incised. The volar plate was elevated in a T-shaped fashion enabling the two volar plate flaps to be imbricated over one another in a vest over pants fashion, preventing hyperextension. This step repositioned the MP joint from a hyperextended, unstable state to a flexed configuration that enhances tip pinch. Great care to preserve the joint surfaces as well as the epiphyseal plates.
A Huber Opponensplasty was also performed at the index procedure. The hypothenar muscle flap was harvested utilizing a mid-axial incision along the ulnar border of the fifth metacarpal. The distal extensor insertion of the abductor digiti minimi was transected near its insertion in the base of the fifth proximal phalanx. The extensor mechanism was left intact and preserved, as was the short flexor to the fifth finger. The muscle was elevated, maintaining its pisiform attachment and ulnar neurovascular pedicle. The muscle was then inverted in the same manner as turning the page of a book (). A subcutaneous tunnel connecting the thumb incision to the ulnar mid-axial incision was created. The muscle flap was delivered through this subcutaneous pocket in a parallel vector to the shaft of the thumb metacarpal. With the thumb in maximal abduction, the transposed muscle was sutured to the conjoint tendon just proximal to the MP joint. This position will alleviate stress from the hypoplastic collateral ligaments.
Due to the absence of a thumb extensor, the abductor pollicis longus also was transferred to the extensor pollicis longus tendon to recreate a thumb extensor. On the dorsum of the wrist, the interval over Lister’s tubercle was incised. The extensor pollicis longus was elevated. It was noted to be markedly hypoplastic, without proximal motor function or excursion. It was divided proximal to Lister’s tubercle. The anomalous junctura tendineae attaching the thumb extensor pollicis longus to the extensor indicis proprius were divided to prevent multiple actions on the tendon transfer. Next, an incision was made over the first dorsal compartment just proximal to the radial styloid. The retinaculum was incised and the abductor pollicis longus tendon was exposed and elevated.
The extensor pollicis longus tendon was then transferred from the third dorsal compartment to the first. A transverse incision in the abductor pollicis longus was made to allow for an intra-tendinous weave with the extensor pollicis longus tendon. This was done with the thumb in a palmarly extended position, though the IP distal insertion was deemed not to be entirely mobile and the excursion was not normal. At this step, further dissection was not performed as there had been multiple incisions both palmarly and dorsally about the base of the thumb. Thus, most of the pull or transferred power from the abductor pollicis longus tendon transfer was inserted more through the extensor pollicis brevis insertion at the base of the proximal phalanx as opposed to at the base of the distal phalanx. Following completion of the intra tendinous weave and suture, all wounds were closed, and the extremity was protected with a thumb gauntlet splint.
Fourteen months later, the patient was doing well and returned for the second stage procedure. The previous surgical procedures enabled the child to tip pinch from the thumb to the index and long fingers (). Due to the short stature of the thumb, it was difficult to touch her ring and small fingers. The thumb metacarpal was stressed demonstrating instability in the base of the thumb metacarpal. The small thumb prevented the patient from being able to pinch large diameter objects. Additionally, there was aplasia of the radial portion of the carpus creating an unstable carpal-metacarpal joint. The treatment plan was to create an osteotomy of the right thumb metacarpal and apply a uni-planar distraction lengthener to elongate the bone as well as stabilize the thumb carpal-metacarpal joint with longitudinal Kirschner wires.
First, the mini Stryker (Kalamazoo, MI) distraction lengthener for digits was placed into its most compressed position (). Four pins were placed through stab wounds and drilled into the thumb metacarpal bicortically. The device was mounted onto the half pins and a small incision was then made 90 degrees off axis from the pin placement to expose the metacarpal shaft for the osteotomy. The osteotomy was performed between the pins, being careful to preserve the periosteal blood flow by minimizing periosteal stripping. A 1.2-mm K-wire was used to make multiple drill holes across the metacarpal shaft, that are subsequently connected with an osteotome.
A K-wire was passed in an antegrade fashion out through the metacarpal canal, the osteotomy reduced, and then the K-wire was passed down the shaft to the metacarpal base so that the base of the thumb would be abducted and aligned with the trapezium and scaphoid. A second wire was inserted into the base to provide two-point fixation, stabilizing the thumb in a tip pinch position during the lengthening process. The lengthener was then expanded to confirm that the osteotomy could distract along the longitudinal wire and then repositioned. Its position was verified with anteroposterior (AP) and lateral views with the image intensifier. Incisions were sutured, and the patient was placed in a thumb spica splint.
The thumb lengthener was turned 1 mm a day. After three months of distraction and healing, the bone was at goal length (an additional 4 cm) and appeared united. The patient returned to the operating room to remove the hardware and buried K-wires. Following removal of hardware, the thumb metacarpal lengthened segment was noted to be stable in all positions, signifying that additional bone grafting was not required. The patient was followed in clinic for 1 year after the procedure. She has learned to use her restored thumb for pinching and grasping. Although weaker than her normal thumb, her right thumb was functional. |
pmc-6409156-1 | A 21-year-old Middle Eastern woman presented to King Abdulaziz University – Faculty of Dentistry, Jeddah, Saudi Arabia for a routine dental evaluation. Her medical history was significant for hypothyroidism secondary to thyroidectomy procedure performed 7 years ago to treat early thyroid papillary carcinoma. She received postoperative radioactive iodine as part of the treatment protocol. She had been taking thyroxin 100 mg/day since then to manage secondary hypothyroidism and had no significant allergy history. Her dental history was significant for active orthodontic treatment for the past 2 years.
An extra-oral examination was noncontributory with no speech impairment. An intra-oral examination was significant for complete absence of LF with normal surrounding oral structures (Fig. ). In order to rule out a diagnosis of EDS, she was referred for medical evaluation and upon clinical examination did not meet the standard criteria for EDS. As part of the comprehensive assessment process, all family members including her six female siblings were evaluated for signs and symptoms of EDS through medical consultations and none qualified for the diagnosis. In addition, none of her family members presented with absent LF. |
pmc-6409157-1 | Our patient was a 10-year-old Caucasian boy with abdominal pain and distention for 1 month before admission. He had no previous medical issues. Further examination showed tenderness in the lower quadrant of the abdomen with a palpable mass. We performed computed tomography (CT) of the abdomen, which identified an intraperitoneal mass in the hypogastrium, extending from the liver bottom edge and mesogastrium to the retrovesical space. A complete resection of the lesion was performed, and the histological results indicated DSRCT with the following immunohistochemical profile: positive for cytokeratin (AE1/AE3), EMA (Epithelial Membrane Antigen), Can5.2, 35bH11, CEA (Carcinoembryonic Antigen), desmin, WT1 (Wilms Tumor 1), synaptophysin, and enolase and negative for 34BE12, 1A4, CD99, and chromogranin. At that point, the patient was referred to our clinic for treatment.
Staging CT examinations of the chest showed a pulmonary nodule (7 mm) in the right lower lobe, and an abdominal CT showed that the tumor had spread into the abdominal cavity and liver nodules in segments V, VII, and VIII. According to the modified peritoneal cancer index, the patient’s cancer was classified as stage IV.
Treatment was started with the following chemotherapeutic regimen: vincristine (1.5 mg/m2 D1) + adriamycin (60 mg/m2 D1) + cyclophosphamide (1500 mg/m2 D1), alternating with ifosfamide (3 g/m2 D1–D3) + carboplatin (450 mg/m2 D1) + etoposide (150 mg/m2 D1–D3). After three cycles, a new abdominal CT scan showed stable disease, and the regimen was replaced by an alternative protocol with irinotecan (50 mg/m2 D1–D5) + vincristine (1.5 mg/m2 D1 and D7), resulting in an excellent partial response according to RECIST version 1.1 (Response Evaluation Criteria in Solid Tumors). After the 13th cycle, total abdominal radiotherapy was performed with a total dose of 2100 cGy, and subsequent irradiation of the areas with prior evidence of disease was performed, resulting in a total dose of 4440 cGy. A boost in the initial tumor bed (pelvis) and margin resulted in a total dose of 4980 cGy.
After initiation of treatment, the first reassessment (after four cycles) showed a 36.7% reduction compared with the initial image, without the appearance of new lesions. In the second and third reevaluations (after 10 and 16 cycles, respectively), reductions of 47.7% and 87.7%, respectively, were observed. At the last CT evaluation, a reduction of 96.9% of the tumor in relation to the original image was observed, without the appearance of new lesions, resulting in a notable partial response (Fig. ).
After 21 cycles, maintenance chemotherapy was initiated with oral cyclophosphamide (25 mg/m2/day) and vinorelbine (D1, D8, and D15; 25 mg/m2/week). Fifteen cycles of maintenance chemotherapy were conducted, and a positron emission tomography/CT evaluation after the treatment showed no anomalous hypermetabolism. During the treatment, the patient had episodes of grade 2 diarrhea, which were treated with loperamide without any severe adverse events.
After 46 months from the diagnosis, the patient was admitted to our hospital with an acute obstructed abdomen. After imaging examinations and a laparotomy, tumor recurrence was diagnosed. The patient died at 50 months after diagnosis. |
pmc-6409158-1 | An otherwise healthy 33-year-old woman, gravida 3, para 2, from a Sephardic Jewish origin, was initially referred to our institution at 30.6 weeks of gestation due to a large neck mass found on prenatal ultrasonography (US). Her previous two pregnancies were uncomplicated. The fetal sonogram showed a 10 by 8 cm mass on the right side of the neck, which was not present in detailed scans taken at 14 and 22 weeks. The mass was composed of a cystic portion and a solid portion containing blood vessels and was growing rapidly in subsequent ultrasound studies. A significant polyhydramnios with amniotic fluid index (AFI) of 50 suggested an upper gastrointestinal obstruction and a highly possible airway obstruction as well. Findings were confirmed by fetal magnetic resonance imaging (MRI). In anticipation of the difficulty in establishing a secured airway at birth and the potential complicated resection of the giant tumor after birth, the mother was referred to our hospital for consultation.
The parents were in consultation with the maternal fetal team, neonatologist, anesthesiologist, pediatric surgeon, and otolaryngologist. The parents were presented with a guarded prognosis but insisted that the pregnancy continue with maximal efforts during delivery and during the neonatal period.
Therefore, a planned EXIT procedure, which provides the best chance to establish a patent airway, was offered to our patient, presenting the risks []. Specifically, we informed the parents about the risks for the mother, including significant hemorrhage from the uterus due to the uterine relaxation necessary to avoid placental separation, with a possible uterine resection in the case of a life-threatening hemorrhage.
Knowing the risk of an unplanned preterm delivery due to polyhydramnios and uterine contractions, we scheduled our patient for a planned cesarean delivery at 34 weeks organizing and preparing a multidisciplinary team ready to perform the EXIT procedure.
A multidisciplinary team including obstetricians, anesthesiologists, neonatologists, otolaryngologists, pediatric surgeons, pulmonologists, cardiologists, and nursing staff participated. A combined epidural and general anesthesia was planned. Our patient’s blood pressure was monitored continuously to detect and treat a possible event of maternal hypotension in order to maintain good fetal perfusion. After epidural catheter placement while lying on her left side, the parturient returned to lie on her back. Immediately, a severe hypotension (65/30 mmHg) with tachycardia (150 beats/minute) appeared. We related this complication to the polyhydramnios causing a significant decrease in the vena cava flow. After left uterine displacement and bolus of phenylephrine, her blood pressure and heart rate returned to normal. General anesthesia with rapid sequence induction was induced with succinylcholine (100 mg) and propofol (150 mg). During the EXIT procedure an appropriate uterine relaxation was maintained to prevent placenta expulsion. We used a high dose of inhaled anesthetics and minimal nitroglycerine intravenous drip. No bleeding occurred during the procedure.
A classical uterine incision was made and only the fetal head and upper chest with the cervical mass were delivered through the uterine incision. The rest of the body and the cord were left in situ to avoid placental separation. The amniotic fluid was slowly drained to avoid an abrupt drainage of the fluid and an early separation of the placenta.
The multidisciplinary team had planned and rehearsed the following escalating step-by-step scenarios for establishing a secured airway: (1) direct laryngoscopy and intubation attempt by a pediatric anesthesiologist with the aid of a neonatologist, (2) rigid bronchoscopy by an otolaryngologist and possible aid of flexible bronchoscopy by a pediatric pulmonologist, (3) if laryngoscopy and bronchoscopy failed, a tracheostomy was planned by an otolaryngology team. As the tumor was highly vascularized, any debulking procedure was impractical and would have imminently put both the mother and newborn at the risk of death. Analgesia for the newborn using intramuscular fentanyl was prepared in advance.
After the head of the newborn emerged, a direct laryngoscopy was attempted; however, the larynx was not visible as the tumor obstructed the pharynx. Attempts at direct intubation were abolished after 1 minute. Next, a rigid bronchoscopy was performed and only the tip of the epiglottis was visualized. At 11 minutes from delivery, endotracheal intubation was successfully performed. From the time of delivery to the time of intubation, the presence of a good heart rate of the fetus was monitored by echocardiography. After the airway was secured, the female newborn was delivered, the cord was clamped, and the placenta extracted. The arterial cord pH was 7.01 with CO2 of 71 mmHg and lactate of 9.5 mmol/L. Immediately after delivery, a computed tomography (CT) scan was performed under general anesthesia that demonstrated that a tracheostomy could be performed without interfering with the tumor. During the tracheostomy, a biopsy was taken from the tumor that demonstrated both mature and immature teratoma (Fig. ).
The birth weight of the newborn girl was 3 kg including the tumor. A giant submental mass that protruded from the right side of her neck was noted. The tumor was covered with a thin skin layer with a large cystic and solid appearance. There were occasional bleedings from several lacerated areas on the tumor surface (Fig. a). A CT study demonstrated the abundant blood supply of the tumor including the fact that the right carotid artery was supplying this tumor (Fig. b). During the first 2 days of life, before the next procedure, the tumor continued to grow significantly, probably partially due to internal bleeding. Her heart function was normal but prerenal azotemia evolved due to loss of large amounts of serotic fluid as well as blood from the lacerated mass.
Because resection of the giant, highly vascularized, cervical teratoma could be a fatal procedure due to massive bleeding, we used endovascular embolization a day prior to the tumor resection. The embolization was done by a pediatric cardiologist and an interventional neuroradiologist. Cervical angiography via a femoral line catheter demonstrated the highly vascularized tumor supplied by the external right carotid artery (Fig. a). A carotid occlusion test was performed and showed good blood supply from the contralateral internal carotid artery (ICA). Next, the origin of the external carotid was occluded using detachable platinum coils. Since resection of the tumor implied the sacrifice of all cervical carotid branches it was mandatory to also occlude the cervical ICA and common carotid artery to achieve minimal blood loss during surgery (Fig. b). The procedure was done under general anesthesia.
Upon withdrawal of the angiography catheter a sudden deterioration of our patient was noted. Fluoroscopy and echocardiography demonstrated cardiac tamponade, probably from a small laceration in the aorta. An urgent pericardiocentesis retrieving 3 ml of blood from the pericardial space allowed fast and full hemodynamic recovery (Fig. c, d). There was no re-accumulation of pericardial blood.
Less than 24 hours after the embolization, the surgical team, which included a head and neck surgeon, pediatric otolaryngologist, and a plastic surgeon, performed the surgery with a pediatric anesthesiologist. Using LigaSure™ Sealer/Divider (Medtronic), the tumor was dissected including a section of the lacerated skin. Because the main blood supply of the tumor was embolized, the surgery was performed from its distal part along our patient’s mandible towards the proximal part at the junction of her neck and thorax. The tumor impinged into her pharynx, and her larynx and epiglottis were identified and preserved. Her mandible and neck muscles were preserved; however, her vagal nerve was surrounded by the tumor and was sacrificed with the carotid artery. The tumor weighted 800 grams and the overall blood loss was 300 ml. After tumor resection and closure of the skin (Fig. ), the tracheostomy tube was changed. This was followed by a pneumothorax that required a chest tube insertion.
Gradually, after the tumor resection, our patient was weaned from mechanical ventilation. She was fed initially using an orogastric tube and gradually learned to feed orally. After the resection, a right vocal cord paralysis was observed using a flexible fiberoptic laryngoscopy; therefore, we decided to leave the tracheal tube in place. We attributed this finding to an injury of the recurrent laryngeal nerve during the resection. Another neurological sequela was an abduction weakness of her right shoulder which slowly recovered. Neck teratomas can arise from and completely replace the thyroid tissue []. Thyroid function tests demonstrated hypothyroidism and she started receiving thyroid replacement therapy. A follow-up ultrasound of her head was normal. A brain MRI done a month after the final surgery demonstrated normal brain appearance. She was discharged to her home at 3 months of age (Fig. ). |
pmc-6409293-1 | A 62-year-old woman without any underlying disease, presented with a 2-year medical history of refractory, left maxillary sinusitis. Clinical and biological investigations did not find any underlying deficit in humoral and cellular immunity. The patient benefited a left maxillary puncture and routine culture of the pus yielded Pseudomonas aeruginosa, Staphylococcus aureus, Raoultella ornithinolytica, Streptococcus pseudointermedius, and Corynebacterium accolens (). In parallel, complementary investigations of the pus specimen yielded M. oralis which was documented by microscopic examination using fluorescent in situ hybridization (FISH), polymerase chain reaction (PCR) amplification, and sequencing of the methanogenic archaeal 16S rRNA and mcrA genes, and culture. The patient was treated by intravenous ceftazidime and netilmycine combined with oral ofloxacin and rifampin; and nasal application of mupirocin. Over the two further years, the patient presented signs and symptoms of refractory sinusitis despite repeated treatments with oral pristinamycin, ciprofloxacin, and amoxicillin-clavulanate. This case prompted the search for methanogens in a series of sinusal pus specimens collected in patients diagnosed with refractory sinusitis.
This study conforms to the ethical guidelines of the 1975 Declaration of Helsinki and received the approval of the local IHU Méditerranée-Infection Ethics Committee under n°2016–020. Patients' specimens were anonymized. We retrospectively investigated the presence of methanogenic archaea in a collection of 116 sinus surgical specimens from patients with refractory sinusitis diagnosed at Timone public hospital from December 2016 to December 2017 by using PCR-based detection as a screening method. In all patients, surgical drainages of affected sinuses were part as the medical management along medical therapeutic procedures. Pus specimens have been collected in a transport medium Σ-Transwab® (Elitech France, Puteaux, France) or in a sterile pot, and have been preserved at −80°C until further use. They were routinely analyzed according to our laboratory procedures, including the research of bacteria and fungi. Culture of bacteria was performed at 37°C in 5% sheep blood–enriched Columbia agar and PVX agar (bioMérieux, Marcy l'Etoile, France) under aerobic and anaerobic atmosphere, for 48 h. All microbial colonies that grew on agar plates were identified by our systematic matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS) screening using a Microflex spectrometer (Bruker Daltonics, Bremen, Germany) (). In addition, each pus sample was analyzed for the search of methanogenic archaea as described below.
In a first step, we used PCR-based assays to screen for the presence of methanogens in the 116 pus specimens. For each tested specimen, a 250 μL suspension of pus was used for DNA extraction as previously described (). A sterile water and Transwab® medium was used as a negative control for each batch of DNA extraction. Amplification and sequencing of the 16S rRNA (primers used: SDArch0333aS15, 5′-TCCAGGCCCTACGGG-3′, and SDArch0958aA19, 5′-YCCGGCGTTGAMTCCAATT-3′) and methyl-coenzyme M reducer (mcrA) (primers used: mcrAFor, 5′GCTCTACGACCAGATMTGGCTTGG-3′ and mcrARev, 5′- CCGTAGTACGTGAAGTCATCCAGCA-3′) genes were performed as previously described (). Nucleotide sequences were assembled using Chromas Pro software, version 1.7 (Technelysium Pty Ltd., Tewantin, Australia) and compared to the GenBank database by similarity search using BLASTN (). Of the 116 tested refractory sinusitis surgical specimens collected from December 2016 to December 2017, PCR-based screening yielded 12 (10.3%) positive for 16S rRNA including 10 (8.6%) that were also positive for the mcrA gene specific for methanogenic archaea. PCR-positive specimens were obtained from nine patients including three Caucasian males and six Caucasian females with an age range of 20–71 years (). Five patients presented a medical history of Ear-Nose-Throat disorder and two patients had a past history of atopy (). Investigations of lymphocytes, immunoglobulins, and complement in four patients, yielded normal results in three patients (patients n°1, 6, and 7) and found a 1.9G/L lymphopenia and a normal CD4/CD8 ratio in patient 2. Information on the antibiotics that they had received was available for 7 patients. Five of them had received amoxicillin-clavulanate, including 2 who had also been treated with ciprofloxacin (). None of the 7 patients had received a nitroimidazole derivative, fucidic acid or lovastatin. Sequencing confirmed the presence of M. oralis in patients 1, 6, 7, and 8 and of M. smithii in patients 2, 3, 4, and 9, all of whom had polymicrobial cultures. In case-5, sequencing identified “Methanobrevibacter massiliense” while routine culture remained sterile for bacteria ().
In a second step, FISH was used to microscopically observed methanogens. Briefly, FISH was carried-out using the Arch915 probe labeled with Alexa fluor-546 (specific for archaeal 16S rRNA gene) and the EUB338 probe labeled with Alexa fluor-488 (specific for eubacterial 16S rRNA gene), as previously described () The universal DNA stain 4′,6-diamidine-2′-phenylindole dihydrochloride (DAPI) was added. Microscopy was performed with an epifluorescence microscope DMI 6000 (Leica, Nanterre, France). FISH revealed the presence of archaea in four PCR-positive specimens but none of the PCR-negative samples. The morphology of archaea detected by FISH was suggestive of M. smithii in one and M. oralis in three patients ().
In a third step, culture was used to confirm the viability of methanogens detected by PCR. Therefore, or each PCR-positive specimen, 250 μL of pus was cultured for methanogenic archaea in a Hungate tube containing 5 mL anaerobe methanogenic SAB medium complemented with 100 mg/L imipenem, 100 mg/L vancomycin, and 50 mg/L amphotericin B and incubated in an atmosphere made of 80% H2 + 20% CO2 at 2 bar pressure at 37°C, with agitation, for 12 weeks, as previously described (, ). Sterile PBS was used as a negative culture control. None of the negative control tubes mock-inoculated with PBS yielded evidence for methane production over 12 weeks. Likewise, no methane was detected in any of the tubes inoculated with pus samples except for the tube inoculated with pus from patient 1 in which methane production indicated that a growing methanogen was detected after 12 week incubation. This isolate was identified as M. oralis based on a 99% 16S rRNA and a 100% mcrA gene sequence similarity with M. oralis strain ZRT (GenBank accession NR_104878.1 and NZ_LWMU00000000.1, respectively). |
pmc-6409302-1 | A 26 year-old woman with diagnosis of orofacial granulomatosis was referred for the evaluation of possible Cushing's syndrome. She reported a 15-kg weight gain and facial erythema. She had received prednisone for orofacial granulomatosis 2 years ago for 2 weeks prescribed by her dermatologist, but she denied any corticosteroid use thereafter. She denied any symptoms of hyperandrogenism or virilization such as acne, hirsutism, seborrhea, balding, or deepening of the voice. She had regular menstrual cycles and was not taking oral contraceptives. She had no history of diabetes or hypertension. Her family history included a brother who works as a nurse. Physical exam revealed a BMI of 22.4 kg/m2, with no facial plethora or skin striae. No hirsutism, acne, spotty pigmentation, or skin myxomas were noted. Thyroid examination was normal. The clinical suspicion for Cushing's syndrome was low. We ordered a low-dose dexamethasone suppression test and reschedule the patient for a 3-month follow-up. At 3 months follow-up she had developed new symptoms such as proximal muscle weakness, facial plethora, and reddish purple striae. Physical examination revealed Cushingoid features with moon face, supraclavicular fat pads and facial plethora. In addition, reddish purple striae >1 cm wide and proximal myopathy were noted.
Work-up revealed an 8 a.m., serum cortisol of 6 μg/dl after 1 mg overnight dexamethasone suppression test (DST). Further work-up showed two consecutive elevated 24-h urinary free cortisol (UFC) (>510 μg/day and >485 μg/day, normal 20–90). The morning plasma adrenocorticotropic hormone (ACTH) was suppressed (<1 pg/ml, normal 7.2–63.3). These findings were consistent with an ACTH-independent Cushing's syndrome. She had normal complete blood count, LFT, KFT, and serum electrolytes. Lipid profile showed total cholesterol of 213 mg/dl, triglycerides of 90 mg/dl, HDL-C of 49 mg/dl, and LDL-C of 159 mg/dl. She was diagnosed with impaired fasting glucose (FPG of 104 and 109 mg/dl). Adrenal computed tomography (CT) scan showed no nodules or hyperplasia (). With the suspicion of primary pigmented nodular adrenocortical disease a Liddle's test was ordered. During Liddle's test of 6 days (2 days of baseline collection, 2 days of 0.5 mg of dexamethasone orally every 6 h, and 2 days of 2 mg orally every 6 h) urinary cortisol increased from 71 to 413 μg/day. Basal urine free cortisol levels were within normal values (20–100 μg/day). It was interpreted as an intermittent variation of cortisol secretion. A primary pigmented nodular adrenocortical disease was suspected.
Before any further work-up or treatment a synthetic glucocorticoid serum screening was ordered. The administrators denied it due to the fact that this test was not available in our hospital. A positron emission tomography (PET)-CT using 18F-flurodeoxyglucose (18F-FDG PET/CT) did not show any uptake in the adrenal glands (). She had no laboratory findings consistent with Carney complex. No cardiac myxomas were noted on echocardiogram. Thyroid ultrasound was normal. With the diagnosis of probable primary pigmented nodular adrenocortical disease a unilateral right adrenelectomy was performed. We planned a two-staged laparoscopic adrenal resection, with subsequent contralateral adrenelectomy in a delayed surgery once we had pathological confirmation of PPNAD. However, histopathological examination revealed normal adrenal gland. We decided to perform a synthetic glucocorticoid serum screen outside our hospital, which was sent to Mayo Clinic lab. High levels of serum prednisone and prednisolone (2.9 and 12 mcg/dl, respectively-reference value <0.1 mcg/dl) performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) were found.
The psychiatrist at our hospital evaluated her. She was confronted with the evidence that her high steroid levels did not result from an endogenous production. She admitted taking steroids, prednisone 20 mg per day. She was diagnosed with a dependent and histrionic personality disorder. Further questioning revealed her boyfriend died around 2 years previously due to a car accident. She has a suppressed hypothalamic-pituitary-adrenal (HPA) axis (early morning cortisol <3 mcg/dl off glucocorticoid replacement for 24 h) treated with hydrocortisone 10 mg in the morning and 5 mg in the afternoon. She is currently under psychiatric care. |
pmc-6409393-1 | A 61-year-old man, a lifelong smoker, was investigated in the respiratory outpatient clinic for progressive breathlessness. Pulmonary function tests at the time revealed a forced expiratory volume in 1 second (FEV1) of 2.84 L (predicted 3.2) and a forced vital capacity (FVC) of 4.9 L (predicted 5.1) with an FEV1/VC of 0.58. Based on these values, he was diagnosed with chronic obstructive pulmonary disease. His breathlessness continued to worsen and was associated with reduced exercise tolerance. As a result he underwent a high-resolution computed tomography (HRCT) scan of the lungs 2 months later. This showed extensive emphysema and bi-basal peripheral–ground-glass changes with possible honeycomb cyst formation (a). Serum creatinine was normal at this time. The patient re-presented 2 months later with symptoms of lethargy, worsening breathlessness, and numbness affecting his left foot.
Physical examination revealed bi-basal fine expiratory crackles in the lungs alongside a mononeuritis multiplex. Renal function was severely impaired with a serum creatinine of 13.01 mg/dl (normal range 0.60–1.10) and C-reactive protein (CRP) was elevated at 93 mg/dl (normal range 0–5). Myeloperoxidase antineutrophil cytoplasmic antibody (ANCA) titers were raised at >100 IU/ml (normal range 0–5). The patient went on to have a renal biopsy. This showed an active segmental and necrotizing glomerulonephritis with evidence of significant tubular atrophy and interstitial fibrosis. Overall, the clinical diagnosis was of an ANCA-associated systemic vasculitis, most in keeping with microscopic polyangiitis.
Despite the significant chronic renal damage, the patient was treated with a combination of prednisone (1 mg/kg/d), plasmapheresis, and i.v. cyclophosphamide in addition to hemodialysis. His clinical condition improved significantly, in particular his shortness of breath. However, he remained dialysis dependent. He was discharged home with a plan to continue outpatient treatment with i.v. cyclophosphamide alongside a reduction of his prednisone dose. A repeat HRCT before discharge showed no new changes compared to the HRCT from a few months earlier.
The patient re-presented 6 weeks later with marked dyspnea. Despite 14.5 L of fluid removal on hemodialysis and treatment with broad-spectrum antibiotics, he remained dyspneic. Results of sputum and blood cultures as well as respiratory viral swabs were negative. Results of investigations for Pneumocystis jirovecii pneumonia were also negative. Diffuse alveolar hemorrhage was considered, although imaging was not consistent with this, hemoglobin was stable, and there was no externalization of blood. The patient was not fit to undergo bronchoscopy. An HRCT scan of the lungs was reported as showing severe centrilobar and paraseptal emphysema with super-added inflammatory changes (b), significantly worse compared to a scan 2 months earlier. The patient had received 2 doses of i.v. cyclophosphamide, and it was believed that this was implicated. Following its withdrawal, the patient’s symptoms and exercise tolerance gradually improved. An HRCT 3 months later showed resolution of the lung changes seen on CT immediately before cyclophosphamide cessation (c). The patient was diagnosed with cyclophosphamide-induced acute pneumonitis. His prednisone dose was increased transiently following withdrawal of cyclophosphamide. |
pmc-6409429-1 | A 17-year-old girl presented to the surgical department with dull aching poorly localized left hypochondrial pain for two years, the patient had no other associated symptoms. The patient had history of blunt abdominal trauma to the upper abdomen two years before presentation to which she attributed her symptom. |
pmc-6409527-1 | A 3-day old male newborn presented with a cystic mass lesion in his neck. He had no neurological deficit. The magnetic resonance imaging (MRI) revealed a cystic sac filled with CSF and a stalk lying from the cervical spinal cord to the inside of the sac covered with a thick skin. The stalk leaved the spinal cord at C3-C4 level (A–C). The diagnosis was cervical LDM. He underwent surgical treatment under intraoperative neuromonitoring (D). The dura was opened on the midline to expose the fibroneural stalk which was attached to the spinal cord. It was cut, and the spinal cord was released after the resection of meningocele sac (E,F). No electrophysiological deterioration occurred after the removal of fibroneural stalk. The dura and the skin were closed and the patient was discharged without neurological deficit. |
pmc-6409527-2 | A 12-day old female patient was presented with a cystic mass lesion in her thoracolumbar region (A). She had no neurological deficit. Her MRI showed a stalk leaving the spinal cord at L2 level and attached to the inner part of meningocele sac. There was also a septum dividing the spinal cord below the stalk (B–D). The septum was a bony spur (E). There was also syrinx cavity just above the stalk and at the cervical spinal cord. Other parts of neuraxis were normal. She underwent surgical treatment under intraoperative neuromonitoring. The meningocele sac was opened and the stalk was dissected from the inner wall of meningocele sac. Then, the bony septum was dissected from the dural sleeve and removed in piecemeal fashion (F). The dura mater was opened and the dural sleeve was removed. It was observed that the stalk was originated just above the hemicords. The stalk was cut and lumbar spinal cord was released (G). The fibrous bands around the hemicords were also cut and removed. The proximal spinal cord and the hemicords were released. Then, the dura mater was closed (H). No electrophysiological deterioration was observed during the surgery. The patient was discharged without neurological deficit. |
pmc-6409702-1 | The case report included a female athlete. The athlete was 34 years old, 67 kg of body mass, 155 cm in height, 14% of body fat, and had four years of FFT experience. Her 1-repetition maximum was 130 kg for the back squat, 112 kg for the front squat, 95 kg for the clean and jerk, and 77 kg for the snatch. Prior to the case report, the participant signed a written informed consent, which was approved by the local ethics committee (Protocol number: 2.698.225; 7 June 2018) and fully outlined the purpose, protocols, procedures, and risks associated. Food intake and supplementation were not controlled during the study. |
pmc-6410423-1 | A 65-year-old man presented to the orthopaedic outpatient department with the chief complaint of swelling over the lateral aspect of his left ankle for the past two years. There was no history of any preceding trauma. The swelling did not increase in size and was not associated with any pain. On clinical examination, there was a 5 × 9 cm swelling over the lateral aspect of the left ankle joint (), which was well defined, nonmobile, firm to hard in consistency, and nontender. The overlying and adjoining skin was discolored but without any evidence of thickening, induration, or increase in local temperature. There was no limitation of joint movements. There were no similar swellings in other parts of the body. An anteroposterior radiograph of the left ankle revealed a well-defined radiopaque lesion over the lateral aspect of the ankle joint. The lesion had an unusual homogenously calcified matrix with no areas of lysis within the mass. The lesion was sessile and was seen overlying the lateral malleolus. There was no periosteal reaction. The ankle joint appeared normal, and there were no pressure erosions over the lower end of the fibula (). Blood investigations revealed normal serum calcium (10 mg/dl), phosphate (4 mg/dl), and alkaline phosphatase levels (127 U/l). The differential diagnoses of synovial chondromatosis, tophaceous gout, calcified lipoma, and myositis ossificans were considered, keeping in mind the possibility of malignant tumors such as synovial sarcoma, osteosarcoma, and chondrosarcoma.
Considering the benign nature of the condition, a FNAC was done, and smears showed dense deposits of calcium with numerous refractile radiating rhomboid-shaped crystals which were seen against amorphous material (). Based upon the FNAC report, a provisional diagnosis of calcium pyrophosphate deposition disease was made, and the patient planned for in toto excision of the mass. After obtaining a written informed consent, surgery was performed under spinal anesthesia. Intraoperatively, an ovoid-shaped mass, reddish white in color and measuring 7 × 5.5 × 4 cm, was noted underneath the peroneal tendon overlying the capsule (). The mass was removed en bloc, and the wound was closed in layers. The postoperative course was uneventful, and the patient was discharged on the 4th day after wound inspection. The mass obtained was subjected to a histopathological examination, which confirmed the FNAC findings and showed large areas of calcium deposition with plenty of rhomboid-shaped refractile crystals (). Hence, a final diagnosis of CPPD or tophaceous pseudogout was made. The patient is currently asymptomatic, and there has been no evidence of recurrence of the swelling till one-year postoperative follow-up. |
pmc-6410446-1 | A 17-year-old right-handed female presented in our outpatient clinic with a 12-month history of pain and limited motion of her left elbow. The symptoms included mild pain during the day time that became increasingly severe at night. A physical examination revealed elbow contracture with a maximal extension of -20° and flexion of 125° (Figures –). The patient failed conservative treatment performed at several clinics and was suspected of having monoarticular arthritis or tendinopathy. Plain radiograph and CT images taken at our clinic revealed a nidus at the olecranon/coronoid fossa of the distal humerus (Figures –). The lesion had a maximal diameter of 9 mm, with central sclerosis of 6 mm. Magnetic resonance imaging was then performed, showing that the central lesion had slightly hyperintense signals compared to adjacent muscle on T1-weighted sequences and hyperintense to intermediate-intensity signals on T2-weighted sequences, with heterogeneous enhancement (Figures –). In addition, proliferated synovial tissues throughout the joint were identified. Technetium-99m bone scintigraphy revealed a hot spot at the olecranon/coronoid fossa, corresponding to the lesion.
Under a diagnosis of intra-articular OO at the elbow, the patient underwent arthroscopic treatment to excise the lesion. A routine anteromedial portal was created 1 cm anterior and 2 cm proximal to the medial epicondyle, and the scope was introduced. Severe proliferation of synovial tissues was observed throughout the joint space (). A 4 mm shaver blade was introduced through the anterolateral portal, which had been additionally created 1 cm anterior and directly lateral to the lateral epicondyle. Posterolateral and posteromedial portals were also created to treat the synovium located at the posterior capsule (). After thorough synovectomy, a tumorous lesion with a hyperemic surface was identified clearly through the anterior and posterior portals. The lesion was excised as an en bloc specimen using a bone chisel and cupped forceps (Figures –). The margin was carefully debrided using the shaver and radiofrequency devices to eliminate all traces of the tumor (). No capsular release was performed. A histologic examination confirmed the diagnosis of OO (). At the 12-month follow-up, the patient had no recurrence of elbow limitation or pain (Figures –). |
pmc-6410447-1 | The 31-year-old male suffered from severe pain in the left leg dorsally till fifth toe since 3 months. The VAS for low back pain was 3-4, and for leg pain, VAS was 8. Periradicular injections and physiotherapy were unsuccessful. Physical examination revealed positive straight leg test at 20°, absence of Axilles tendon reflex, and weakness of foot extension (M3-4). The MRI of the lumbar spine () showed a large highly caudally migrated disc herniation in the left side. The sequester was inside the canal sacral with left side S1 compression. After surgery, there was a rapid recovery. The VAS for leg pain was reduced to 2 the next day. The straight leg test was negative. The weakness improved to M4, and he completely recovered after 6 weeks. Postoperative MRI showed a good decompression with a very small rest disc piece inside the canal sacral (). |
pmc-6410447-2 | The 56-year-old male suffered from pain (VAS 8-9) in the left leg for two weeks. The straight leg test was positive at 40°. No weakness, but numbness at the left side of leg and plantar foot was observed. The MRI scan of the lumbar spine () revealed a huge highly caudally migrated herniation with left side compression of S1. We performed the surgery through the pedicle S1 left-side (). Through the bone hole of the S1 pedicle, we found a large sequester (); and after removing the sequester by flexible forceps, the S1 root was found floating freely inside the canal ().
The leg pain disappeared (VAS 2) immediately, but the numbness disappeared after 4 weeks. Control MRI () showed a complete removal of the sequester and relieved S1 root after 4 weeks. The access way through the S1 pedicle is also shown up (red arrow). |
pmc-6410447-3 | A 50-year-old male suffered from dorsal leg pain (VAS 7) since 8 months. Paresthesia and weakness of foot flexion (M3) were observed. The straight leg test was positive at 40°. No improvement was seen after conservative treatment. The MRI showed a free sequester caudally dislocated to the left side of the canal sacral (; red arrow). By surgery, we made additional chromodiscography of L5-S1 disc. The caudally migrated sequester was visible by contrast dyeing (, red arrow). We removed 2 pieces of disc sequester through the bone hole (), and the S1 root was visually seen under endoscopic view ().
After surgery, the leg pain disappeared. Only low back pain was still present. Foot flexion was improved to M4 and recovered completely after 8 weeks. The postoperative CT examination showed the access way through the S1 pedicle and the bone hole (, red arrow). |
pmc-6410487-1 | An 84-year-old Japanese man was diagnosed with type 2 diabetes at 58 years of age in 1987. He received human insulin treatment for 20 years, but in 2011, biphasic human insulin 30 was changed to biphasic insulin aspart 30 (BIAsp 30). He had stage 4 chronic kidney disease due to nephrosclerosis, renal anemia, hypertension, dyslipidemia, hyperuricemia, and sleep apnea syndrome. He had been taking the following medications: amlodipine 10 mg/day, rosuvastatin 2.5 mg/day, and febuxostat 20 mg/day. He drank alcohol occasionally and had smoked one to two packs of cigarettes daily for 50 years when he quit 15 years ago. He did not have any food or drug allergies. His family and social histories were not remarkable. His environmental history revealed no abnormalities. He was a retired company director. From January 2015, he experienced persistent early morning hypoglycemia (< 50 mg/dl) with daytime hyperglycemia. Despite reduction of BIAsp 30 dosage, early morning hypoglycemia concomitant with disturbance of consciousness continued to occur. Therefore, he was admitted to our hospital in February 2015.
On examination, the patient’s temperature was 36.3 °C, pulse 64 beats/min, blood pressure 126/72 mmHg, respiratory rate 20 breaths/min, and oxygen saturation 96% while breathing ambient air. He was alert and oriented to time and place on admission. Neurological examination revealed intact cranial nerves, normal limb power and sensation, and absence of cerebellar signs. No changes in sensorium or psychotic features were noted. Other physical examinations revealed no abnormalities. Laboratory findings on admission were as follows: fasting plasma glucose, 82 mg/dl; hemoglobin A1c (HbA1c), 7.0%; and glycoalbumin, 21.4%. More laboratory test results are shown in Table . Imaging studies, including computed tomography and magnetic resonance imaging, showed no significant change.
Although BIAsp 30 was discontinued after admission, early morning hypoglycemia with daytime hyperglycemia continued even after eating small frequent meals (a four or six meals per day eating pattern). Fasting blood samples revealed a plasma glucose level of 28 mg/dl, immunoreactive insulin > 2000 μIU/ml, C-peptide 3.03 ng/ml, and high titers of insulin antibody (IA) (> 50 U/ml). IA binding rate was at a high level (86.3%). Scatchard analysis showed an affinity contact (K1) of 0.00256 × 108 M− 1 and a binding capacity (B1) of 99.7 × 10− 8 M against human insulin for the high-affinity sites, indicating that the patient’s IA bound to insulin with low affinity and high binding capacity. He had no history of medication involving SH residues or supplements containing α-lipoic acid. Moreover, workup for endocrinological abnormality and autoimmune disease did not reveal any significant findings (Table ). HLA-DRB1*04:06 was undetectable, and imaging studies of the head and abdomen showed no evidence of abnormalities.
The patient’s serum creatinine level was 2.17 mg/dl, and his estimated glomerular filtration rate (eGFR) was 23.3 ml/min/1.73 m2. His arterial pH at 5:00 a.m. was 7.277, bicarbonate was 15.1 mEq/L, and base excess was − 10.7. After he was given a gradually increasing dose up to 3 g/day of sodium bicarbonate (split four times per day) for the purpose of correcting metabolic acidosis, his early morning glucose level was improved, concurrently bringing pH up to 7.4 (Fig. ). Early morning hypoglycemia disappeared after he took 3 g/day of sodium bicarbonate and three meals plus snacks at night daily (1400 kcal/day) without any oral hypoglycemic agent or insulin. The patient was discharged in late March 2015 and continued on the same treatment.
After 9 months of follow-up with these treatments, the patient’s plasma glucose level at 5:00 a.m. was 96 mg/dl, and his arterial pH was 7.376. His immunoreactive insulin level had significantly decreased to 11.4 μIU/ml, even though the titer of IA remained high (> 50 U/ml). IA binding rate decreased to 42.1%. According to the Scatchard analysis, his IA shifted to higher affinity (K1 = 0.142 × 108 M− 1) and lower capacity (B1 = 0.969 × 10− 8 M) than his previous IA. During this follow-up period, he had no symptoms of hypoglycemia, his HbA1c levels were around 6.5%, and his eGFR did not change significantly. His daily plasma glucose levels ranged from 96 to 168 mg/dl. |
pmc-6410501-1 | The 10-year-old boy described here (Full Intelligence Quotient [FIQ] = 112, Verbal Intelligence Quotient [VIQ] = 106, Performance Intelligence Quotient [PIQ] = 117) had been diagnosed with a developmental delay in head control, speech, and language by a paediatrician when he was 1 year and 6 months old. When he entered kindergarten, he often played by himself and did not make friends because of his communication problems. After entering the local elementary school, at the age of 6, he began to show hyperactivity and impulsivity. In addition, he displayed symptoms of motor and vocal tics. He was assessed at a local clinic, and diagnosed with ADHD/ASD comorbid with TS. Although he initially continued to take risperidone (0.5 mg/day), side effects such as headache and anxiety led him to discontinue the treatment. When he was 9 years old, worsened impulsivity led him to behave violently toward his mother. He, therefore, began treatment, at a local clinic, with atomoxetine (ATX) (30 mg/day). However, he discontinued the medication as he experienced worsening irritability. Although he was prescribed MPH (18 mg/day) after discontinuing the treatment with ATX, he also discontinued taking MPH, because his motor and vocal tic symptoms were exacerbated. As these symptoms continued, he was referred to our hospital at 10 years of age, with an ADHD-RS-IV-J score of 23 and a YGTSS score of 29.
According to his father, he had only few friends because he had so little interest in making friends in school. The teachers often reported problems to his parents, such as when he showed physical aggression toward his friends or ran away from school during the lesson. He often got angry when the timing of activities deviated from his usual schedule. He was, therefore, diagnosed with ADHD/ASD/TS according to the criteria specified in the DSM-5.
The patient was continuously prescribed GUAN at a dose starting at 1 mg/day and increasing to 3 mg/day. However, the 3-mg dose led to drowsiness (ADHD-RS-IV-J score of 10, YGTSS score of 15), and was, therefore, reduced again to 2 mg/day. At the decreased dose, he continued to take GUAN without side effects (ADHD-RS-IV-J score of 9, YGTSS score of 15), while there was no clear difference in effect between the 2-mg/day and the 3-mg/day doses. Importantly, his ADHD-related symptoms, such as irritability, hyperactivity, and inattention, as well as his tic symptoms, gradually improved. On the other hand, GUAN had no effect on ASD symptoms in this case. The patient was able to continue taking GUAN for 6 more months (ADHD-RS-IV-J score of 9, YGTSS score of 15) (Fig. ). |
pmc-6410502-1 | A 47-year-old previously healthy Caucasian woman was seen at an urgent care clinic for severe headaches and frontal sinus pressure in August. She was prescribed a standard course of amoxicillin-clavulanic acid (Augmentin) and prednisone for a presumed sinus infection. After a week of unimproved symptoms, she was seen by an ear, nose, and throat (ENT) specialist and underwent a rhinoscopy (nasal endoscopy) that revealed edematous nasal passages void of pus. At this time, still believing her symptoms were the result of a sinus infection, her antibiotic was switched to 300 mg clindamycin given three times daily and she was tapered off her steroids (8 mg for 3 days, 6 mg for 2 days, then 4 mg for 2 days, and 2 mg for 2 days). Unfortunately, her symptoms continued to worsen. One week following her endoscopy, she was admitted to the emergency department (ED) for severe headache particularly when bending forward, intermittent left-sided blurred vision, diplopia, and paresthesia (nasal burning). She was started on 750 mg intravenously administered Levaquin (levofloxacin) daily and 80 mg Solu-MEDROL (methylprednisolone) every 8 hours, but the severity of her symptoms and lack of improvement on antibiotics prompted a computed tomography (CT) scan. The CT scan found near-total opacification of the sphenoid sinuses bilaterally in addition to the right maxillary sinus with air-fluid levels with minimal opacification observed in the left posterior anterior ethmoid sinus. While admitted, she developed left-sided CN VI (abducens) palsy and worsening blurry vision that prompted the transfer to our care facility.
Upon arrival to our institution, she was afebrile with stable vital signs and she was ill-appearing, but in no acute distress: temperature (T) 36.7 °C, heart rate (HR) 49 beats per minute, blood pressure (BP) 132/68 mmHg, and respiratory rate (RR) 16 breaths per minute. A physical examination revealed a normal physical examination. A neurological examination and portable slit lamp examination were also within normal limits with the exception of symptoms from the left CN VI palsy. Thorough laboratory studies were completed upon admission including metabolic panels, complete blood counts, urine analysis (UA), microbiology, and serology. Her white blood cell count was elevated upon presentation (21.9 × 109 cells/L), trended downwards to 13.9 × 109 cells/L within 5 days, and remained at a slightly elevated level for the next several months. Inflammatory markers C-reactive protein and lactate dehydrogenase were elevated upon presentation, but erythrocyte sedimentation rate and procalcitonin were within normal limits. Her remaining laboratory results were within normal limits or negative: comprehensive metabolic panel (CMP), Mg, phosphorus (Phos), UA, antinuclear antibodies (ANA) panel, antineutrophil cytoplasmic antibody (ANCA), prolactin, thyroid-stimulating hormone (TSH), free thyroxine (T4), cortisol, growth hormone (GH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), insulin-like growth factor 1(IGF-1), arterial blood gas (ABG), pregnancy, and HIV. In regards to microbiology, a Gram stain from nasal and maxillary sinus demonstrated white blood cells, but no organisms were present except for rare normal respiratory tract flora. Aerobic, anaerobic, and fungal cultures from these specimens demonstrated no growth. Fungitell®, Aspergillus galactomannan antigen, and Toxoplasma gondii antibody tests were all negative.
Upon transfer to our institution, the previous CT scan findings prompted an immediate follow-up magnetic resonance imaging (MRI) of her head with and without contrast that included orbits; the MRI revealed a 2.6 by 1.7 cm mass centered in the sella extending superiorly along the pituitary infundibulum, laterally into the cavernous sinuses, bilaterally to abut the carotid arteries, and anteriorly into the bilateral sphenoid sinuses (Fig. ). Transnasal transsphenoidal excision and debulking was performed for what was thought to be an invasive pituitary macroadenoma. Intraoperatively, the mass was noted to be firm, rubbery, ill-defined, infiltrative with protrusion through the sellar face, and eroding through the clivus. Due to the infiltrative nature of the tumor, a complete resection was not possible. Of note, during resection, the mass appeared to be extradural and separate from the pituitary gland. Consistent with this, frozen tissue sections obtained during surgery were concerning for malignancy but did not appear to be a pituitary adenoma.
An initial pathologic inspection was suggestive of melanoma, however, further pathologic analysis over the next few weeks suggested this was not the case. Specimens were diffusely positive for SOX10 and CD99, focal positivity of S100, but failed to stain the following markers: cytokeratin, AE1/AE3, CAM5.2, Melan-A, synaptophysin, CD45, CD20, Pax5, ERF, Pax8, Gata3, HMB45, MiTF, cytokeratin 7, CD56, calretinin, and chromogranin. Simultaneous cytogenetic testing showed a reciprocal translocation involving 15q and 19p, which led to the addition of NMC to the differential []. Further fluorescence in situ hybridization (FISH) testing confirmed the fusion of NUTM1 (15q14) and BRD4 (19p13.12) loci confirming the diagnosis [].
In attempt to determine if our patient had any notable exposures that could have contributed to the development of this rare disease, a full social and environmental history was solicited including evaluation of relevant exposures. She lived with her spouse, two dogs, and a cat in a suburban, recently built home. She worked for the suburban public-school system largely ruling out work or home exposures. She also denied any use of tobacco, alcohol, or illicit drugs. Our patient and her family denied any unusual chemical or toxic exposures. Our patient’s family history is positive for hyperlipidemia, stroke, and lung cancer in our patient’s mother (died at age 69) and hyperlipidemia, hypertension, and testicular cancer in our patient’s father. Our patient’s brother and her three children (one daughter, two sons) are all alive and without any known medical issues.
Due to the initial consideration that our patient’s tumor may represent melanoma, she underwent a whole-body positron emission tomography (PET)-CT scan to search for additional sites of tumor involvement. The sphenoid region displayed a significant uptake in addition to two left-sided, level-2 lymph nodes. Ultrasound of her neck found a single slightly enlarged lymph node measuring 1.1 cm with fatty hilum that was thought to be the source of increased glucose uptake. At this time, this was not thought to represent malignant involvement. The following week, our patient initiated radiation (50 Gy in 20 fractions) to her sella, cavernous sinuses bilaterally, and skull base. Over the course of radiation therapy, the primary tumor dramatically decreased in size suggesting it was highly radiosensitive (Fig. ). Unfortunately, however, at the initial radiation treatment, the neck nodes were found to have substantially increased in size, and neck CT demonstrated rapidly increased bilateral necrotic nodes that were now believed to represent an unusually rapidly progressive neoplastic process. In addition, a cluster of pulmonary opacities was visualized that were suspicious for metastatic disease. She was then started on combined docetaxel (160 mg, 75 mg/m2) and cisplatin (161 mg, 75 mg/m2), four total cycles, with concurrent bilateral neck radiation treatment of 50 Gy in 20 fractions.
Two months after resection and after the completion of concurrent chemoradiation therapy (69 days from MRI shown in Fig. ), an MRI showed a significant decrease in skull base/sinus lesion (Fig. ). However, she presented once again to the ED approximately 1 month after cessation of therapy with complaints of pleuritic chest and mid-back pain. A chest CT scan identified a distinct 4 mm pulmonary nodule in the upper lobe of her right lung that was not visualized 3 months prior. An abdominal-pelvic CT scan found bulky retroperitoneal soft tissue masses with severe, proximal inflammatory stranding, suggestive of diffusely metastatic disease. A pain plan was put in place and out-patient endoscopic ultrasound (EUS)/endoscopic retrograde cholangiopancreatography (ERCP) was scheduled for further disease assessment, but increased mid-back pain and refractory constipation prompted a return to the emergency room (ER) before these studies could be completed. At that time another abdominal-pelvic CT scan revealed progression after only 1 week and now demonstrated progressive intra-abdominal lymphadenopathy (9 cm greatest involvement) with encasement of the celiac axis, hepatic and splenic arteries, superior mesenteric vein (SMV), portal vein, gastroduodenal artery with extensions into the pancreatic tail, and compression of the second and third portions of the duodenum. Fine needle aspirate of the pancreas confirmed the presence of metastatic disease, demonstrating malignant cells that were cytomorphologically similar to the original tumor samples. She was admitted for pain control and underwent the EUS/ERCP to further evaluate her metastatic disease. After developing an improved pain control plan, she was discharged.
Unfortunately, after she was released from our hospital, she required readmission less than a week later for intractable nausea and vomiting. Repeat imaging (abdominal-pelvic CT) demonstrated the numerous abdominal masses had increased in size with near-complete occlusion of the SMV and portal vein, increased encasement and narrowing of the celiac artery and superior mesenteric artery (SMA), and significant extrinsic compression of the second and third portions of the duodenum with probable tumor invasion/obstruction. After management of her symptoms, she was once again released from our hospital. She went on to receive palliative radiation to her abdomen (37.5 Gy planned in 15 fractions but she only received 22.5 in 9 fractions). She was readmitted to our hospital following a visit to our ER for recurrent intractable nausea/vomiting, shortness of breath, and general decline. She was transferred to our intensive care unit (ICU) following a hypoxic event and cardiac arrest that required intubation and resuscitation. This was preceded by vomiting and likely aspiration including oral secretions. At this time, a chest X-ray demonstrated persistent low lung volumes and increasing bilateral patchy pulmonary opacities concerning for worsening pulmonary edema in addition to new bilateral pleural effusions and significant ascites. In addition, she demonstrated signs of being critically ill with multiorgan failure. She continued to receive supportive and palliative care until she died from the disease almost 5 months after diagnosis. Since a definitive diagnosis had been established for our patient and in accordance with her family’s wishes, no autopsy was performed. |
pmc-6411322-1 | A 59-year-old male presented to the emergency room with painless rectal bleeding for five days; his medical history was significant for chronic atrial fibrillation, left atrial thrombus and lower extremity deep vein thrombosis on Warfarin. His family history was unremarkable. He had no previous similar episodes of rectal bleeding, no history of alcohol abuse, smoking or drug abuse, and did not have a fever, abdominal pain or hematemesis.
On admission, his blood pressure was 116/80, heart rate of 85 beats per minute, respiratory rate of 18 per minute. On physical exam, he was found to have a small amount of blood in the rectal vault with no external hemorrhoids. Initial laboratory testing revealed white cell count of 7,740 (normal: 4,000-10,000) hemoglobin of 9.8 g/dL (normal: 12-15.5 g/dL), which was lower than high baseline hemoglobin of 13.1 g/dL, platelet count of 132,000 (normal: 130,000-400,000), blood urea nitrogen of 30 mg/dL (normal: 10-20 mg/dL) and creatinine level of 1 mg/dL (normal: 0.7-1.5 mg/dL). Liver enzymes were within normal limits. His international normalized ratio (INR) was 3.9 (normal: 0.65-1.3). The next day, he underwent colonoscopy that demonstrated an actively bleeding protruding vessel in the anal canal just above the dentate line, suggestive of DL (Figure ; ACG abstract: Jobin, Philipose, MD; Oct 8, 2018). Three endoscopic hemoclips were applied with full control of bleeding (Figure ; ACG abstract: Jobin, Philipose, MD; Oct 8, 2018). The rest of the rectal mucosa did not show any other bleeding lesion, no inflammation, ulceration, angioectasia or internal hemorrhoids. The patient had no further bleeding afterward. His hemoglobin level remained stable, and he was discharged home three days after presentation. |
pmc-6411323-1 | A 68-year-old woman with rheumatoid arthritis, newly-diagnosed liver cirrhosis, type 2 diabetes mellitus (T2DM), hypertension, hypothyroidism, high-grade squamous intraepithelial lesion and cervical intraepithelial neoplasia I was admitted to the obstetrics and gynecology service for a planned transvaginal hysterectomy. The patient had recently undergone an extensive workup for liver cirrhosis. There was no history of significant alcohol use and viral hepatitis serologies were negative for hepatitis A, B, and C. Ferritin level was 319 ng/ml making hemochromatosis unlikely. Anti-mitochondrial and anti-smooth muscle cell antibodies were negative. Primary biliary cirrhosis and primary sclerosing cholangitis were unlikely in the absence of other clinical findings. Wilson’s disease was also considered, however serum copper and ceruloplasmin levels were normal and the patient did not have any psychiatric symptoms. Finally, α-1 antitrypsin was within normal limits at 193 mg/dl.
Nonalcoholic fatty liver disease (NAFLD) being the leading cause of cryptogenic liver cirrhosis was found to be the most probable explanation for her cirrhosis (patient had T2DM, body mass index (BMI) was 29.83 and hyperlipidemia), nevertheless the patient had been taking methotrexate for more than 10 years for treatment of rheumatoid arthritis, and this was the second most plausible etiology in our differential.
During preoperative evaluation, the patient was noted to have a resting supine oxygen saturation of 93%. At that time, the patient denied any respiratory or cardiac symptoms, and she underwent transvaginal hysterectomy with no complications.
The patient was noted to have two grams drop in hemoglobin level after surgery which was promptly corrected with two units of packed red blood cells. On postoperative day two, the patient became dyspneic while walking to the restroom. Despite the administration of packed red blood cell transfusions, hypoxemia (oxygen saturation of 82%) sitting up and during ambulation was still noted. When the patient tried to ambulate further, she developed perioral cyanosis and increasing dyspnea. After going back to the recumbent position, her oxygenation saturation improved to 92-93%. The patient was placed on oxygen supplementation at three liters per minute by nasal cannula and her oxygen saturation remained at 93%. Internal medicine and pulmonology were consulted to further investigate the cause of her hypoxemia. On our initial evaluation, the patient was noted to have bibasilar rales and a chest X-ray revealed mild pulmonary edema. Intravenous furosemide was started which resulted in increased urine output, but no improvement of oxygen saturation.
An arterial blood gas was obtained while the patient was lying in the supine position at a fraction of inspirated oxygen of 21% showing a pH 7.49, PaCO2 30 mmHg, PaO2 53 mmHg, HCO3 22 meq/L and O2 saturation of 89.2%. The A-a gradient was 59.2 mmHg, with an expected A-a gradient for the patient’s age of 21 mmHg. This made the presumptive diagnosis of severe HPS based on the criteria by Rodriguez-Roisin et al. (Table ) [,].
Contrast-enhanced TTE showed an ejection fraction of 55%, grade one diastolic dysfunction, and late opacification with microbubbles in the left heart chambers after five heart cycles (Figure ). Pulmonary artery systolic pressure was 27 mm Hg. Lower extremity dopplers were negative for deep venous thrombosis (DVT) and computed tomography (CT) chest with contrast did not show pulmonary embolus (PE). Nonetheless, it did reveal a very prominent pulmonary vascular pattern extending to the periphery of the lungs (Figure ).
Pulmonary edema was the first diagnosis in mind based on the initial chest X-ray showing pulmonary vascular congestion and rales on examination. However, her hypoxemia persisted after intravenous diuretics with an appropriate response (urine output was 4.7 liters in the next 36 hours). Other possible diagnoses were also ruled out. No signs or symptoms of pneumonia were found, her Well’s criteria showed a low probability for DVT and PE, and the patient was already on full anticoagulation with low molecular weight heparin for portal vein thrombosis, which is a common complication of advanced cirrhosis. Other causes of hypoxemia such as tense ascites and hepatic hydrothorax were also excluded.
At that point, we considered the diagnosis of interstitial lung disease. Cases of POS secondary to interstitial lung disease have been previously reported in the literature. However, the CT chest with contrast did not show findings compatible with this diagnosis []. Contrast-enhanced TTE demonstrated preserved ejection fraction and normal pulmonary artery systolic pressures (27 mmHg). Therefore, heart failure with reduced ejection fraction and pulmonary hypertension seemed unlikely. PFO was also ruled out given the absent early opacification of the left atrium and ventricle after agitated saline was injected. Late opacification of the left cardiac chambers made HPS secondary to intrapulmonary shunts a more probable diagnosis.
Hepatology was consulted for evaluation and to determine liver transplant eligibility. Patients with HPS and a PaO2 less than 60 mmHg (such as this case) have worse outcomes without liver transplantation and are given a higher priority than patients with other disorders []. Standing oxygen supplementation was started at 3 L/min by nasal cannula with improvement in subjective dyspnea and mild improvement in oxygenation. Home oxygen equipment and training were provided to the patient. Low-molecular-weight heparin for portal vein thrombosis and low-dose oral furosemide were continued.
Dyspnea improved on hospital day four, and our patient was able to ambulate without shortness of breath while using portable oxygen. Oxygen saturation standing upright also improved to 93% and remained stable. The patient was discharged in stable condition on home oxygen with follow-up appointments with hepatology and pulmonary medicine. Her MELD-Na score was 12 points. However, a diagnosis of HPS will prioritize her candidacy for possible orthotopic liver transplantation (OLT). Gastroenterology will follow up to screen for esophageal varices via upper endoscopy. |
pmc-6411325-1 | A 13-year-old female patient presented to the Dental University Hospital at King Saud University, Riyadh, Saudi Arabia. The patient was referred by an orthodontist to restore her teeth before starting orthodontic treatment. Her weight was 125 kg and her height was 173 cm, which were abnormal for her age. The patient did not report any pain, discomfort or medical problems; however, the patient's response was late during the history taking. The patient had a history of successful repair of cleft lip and palate. Upon extra-oral examination, the frontal view showed facial asymmetry on the left side and flattening of the nasal bridge, increased intercanthal distance (35 centimeters) (orbital hypertelorism) and frontal bossing (54 centimeters), multiple skin lesions on her arms, and right foot and palmar/ plantar pits (Figures , , ).
The intra-oral examination revealed multiple carious teeth, painless hard swelling in the left side of the mandible, and mild pain on percussion in all the left mandibular posterior teeth. An orthopantomogram (OPG) showed bilateral radiolucent lesions associated with a partially erupted mandibular second molar teeth. The left mandibular lesion was extended up to the ramus of the mandible; moreover, the patient had a horizontally impacted maxillary right second molar and congenitally missing second premolars and third molars (Figure ).
Cone beam computed tomography (CBCT) was requested for detailed radiological assessment of the mandibular lesions. Accidentally, CBCT revealed another large lesion associated with the impacted right maxillary second molar, which extended up to the right maxillary sinus. In addition, the lower left lesion was severely expanded in all directions (buccolingual, anteroposterior, and superoinferior), and perforations were noticed in the buccal and lingual borders of the mandible (Figure ). A skull X-ray revealed calcification of the falx cerebra on the posteroanterior and lateral views.
In addition, the anteroposterior view of a chest X-ray showed a bifid fifth rib on the left side (Figure ).
A diagnosis of Gorlin-Goltz syndrome was made. Both maxillary and mandibular right cystic lesions of the jaws were enucleated surgically. Marsupialization was done for the mandibular left lesion and a biopsy was performed. The histopathological examination of the tissues showed KCOT of the right and left mandibular lesions and a dentigerous cyst of the maxillary right-side lesion. The patient was followed up every week after the surgery in the first month. The patient will then be followed-up once each month for six months. The tube will be removed after six months and then the patient will be followed up every six months.
After two months of follow-up, the marsupialized cyst showed improvement and bone deposition (Figure ). Informed consent (written) was obtained from the patient and her parents. (The IRB approval number is E-18-3544). |
pmc-6411326-1 | A 45-year-old male patient applied to the emergency service with a nail scissor inserted in the urethra. The patient gave a history of self-insertion of the instrument in the urethra. There were urethral bleeding and pain with the normal passage of urine. A hard-edged foreign body was pulped by urethral examination. A radiographic image was taken (Figure ) and a nail scissor was diagnosed in the urethra. Urethral extraction was applied under local anesthesia to remove the foreign body (Figure ). An image could not be taken during the operation because the patient disapproved. Antibiotherapy and analgesia were given to the patient following surgery. The next appointment was set to check for urethral healing in the urology department. |
pmc-6411331-1 | A 76-year-old female patient presented to the hospital with a complaint of progressive jaundice of three weeks duration. The prior week, she experienced fatigue and malaise. Her past medical history was significant for colonic adenocarcinoma diagnosed 26 years prior to presentation, with a complicated course requiring small bowel resection and eventual total colectomy with end ileostomy. She had short gut syndrome, requiring total parenteral nutrition (TPN), paroxysmal atrial fibrillation, and a prior admission for sepsis.
She denied alcohol use, and her only medications were amiodarone, atorvastatin, and aspirin. On arrival, her vital signs were stable and a physical exam revealed marked jaundice along with mild right upper quadrant tenderness. She had a normal mental status with no asterixis.
Laboratory workup was remarkable for a total bilirubin of 26.7 mg/dL, direct bilirubin of 17.8 mg/dL, aspartate aminotransferase (AST) of 146 IU/L, alanine aminotransferase (ALT) of 74 IU/L, alkaline phosphatase of 99 IU/L, international normalized ratio (INR) of 1.4, platelet count of 68 K/uL, and albumin of 2.6 g/dL.
A computed tomography (CT) scan of the abdomen (Figure ) displayed periportal edema and a normal-appearing gallbladder and biliary tract. Abdominal ultrasound and magnetic resonance imaging (MRI) with cholangiopancreatography confirmed these findings (Figure ).
A thorough workup of common autoimmune, infectious, and genetic forms of liver diseases was negative. A liver biopsy was performed, and histology was most notable for steatohepatitis-like ballooning degeneration with prominent Mallory bodies, confirming amiodarone-induced hepatotoxicity (Figure ). |
pmc-6411332-1 | A 77-year-old left hand-dominant female first presented to the emergency department (ED) as a transfer from an outlying facility (OLF) secondary to an African grey parrot (Psittacus erithacus) bite. The patient was cleaning her pet parrot’s cage at 09:30 hours when she sustained a bite to the dorsum of the right hand. She experienced immediate pain but upon examination, there were no breaks in the skin. The patient then washed the area with antibacterial soap and applied an ice pack. Throughout the day, the pain, swelling, and bruising continued to increase and eventually spread to her dorsal wrist. The pain became unbearable and so she sought care at her local ED. The OLF performed labs and a hand X-ray. She was given one dose of intravenous (IV) ceftriaxone 1 g and transferred to our ED for evaluation by hand surgery. The patient arrived at our facility and was evaluated at 1931. The patient was complaining of increased pain, numbness, and coolness all over the dorsum of the hand. She also stated the swelling had progressed to the distal third of the dorsal forearm from the time of evaluation at the OLF until the time of arrival. She denied systemic symptoms.
The patient’s initial vital signs were temperature 36.9 °C, blood pressure 160/82, heart rate 95 beats per minute, respiratory rate 18 breaths per minute, and oxygen saturation of 97% on room air. On physical exam, the right hand had ecchymosis and soft tissue edema to all five digits as well as the dorsum of the hand with an extension to the distal third of the dorsal forearm. At the proximal third of the dorsal forearm, there was soft tissue swelling, induration, erythema, and fluctuance. No crepitus was noted. There was no swelling beyond the area of erythema. The right hand was cold when compared to the left hand. The digits were held in slight flexion. There was a decreased range of motion with extension and flexion in all five digits as well as wrist extension. There was tenderness to palpation to all five digits, dorsum of the hand, and the dorsal forearm. Radial and brachial pulses were two plus and equal bilaterally. Median, radial and ulnar nerve sensation were intact.
The patient had a basic metabolic panel and complete blood count at OLF, which were unremarkable. Her hand X-ray from OLF was interpreted as having soft tissue swelling without evidence of fracture. Given the clinical suspicion of ACS, the hand surgeon was contacted and requested a computed tomography (CT) scan of the extremity with intravenous contrast (Figures -). The patient was evaluated by the hand surgeon at 20:15 hours and taken immediately to the operating room. She was given a tetanus shot and azithromycin 500 mg IV to empirically cover for C. psittaci given the history of a bird bite. The CT scan was interpreted as having soft tissue swelling of the dorsal hand without fluid collection or bony abnormality (arrows denote swelling).
In the operative suite, the patient underwent a right-hand fasciotomy. The first incision was made over the third metacarpal into the deep fascia of the dorsum of the hand. A large non-purulent fluid collection was encountered and cultures were obtained. Next, the fascia of the right thenar musculature was released. Finally, the fascia of the right hypothenar musculature was released. After the fasciotomy, the surgeon drained an abscess involving the forearm and iodoform packing was placed. No necrotic tissue was noted. Lastly, the median nerve was released at the carpal tunnel and the ulnar nerve was released at Guyon’s canal to prevent further compression of the nerves. The patient was sent to recovery without complications.
The next day she was evaluated by an infectious disease specialist. They recommended changing her antibiotics to amoxicillin/clavulanate and doxycycline. The patient's wounds continued to improve over the course of her hospitalization. Forty-eight hours after her first procedure, she was taken back to the operative suite for secondary closure of the wounds of the dorsum of the hand and the forearm. All cultures, including aerobic, anaerobic, and fungal, were negative. The patient was discharged home on day three of her admission to complete a 14-day course of antibiotics. She was also given outpatient physical therapy to work on wrist range of motion. At her two-week follow-up, the patient was found to have improved sensation, strength, and range of motion. Her wounds were healing appropriately without any further swelling or drainage. |
pmc-6411333-1 | A 56-year-old male with a past medical history significant for chronic pancreatitis with heterogeneous SPINK-1 mutation (tested for at age 27 due to recurrent episodes of acute pancreatitis) presented with severe left lower quadrant (LLQ) abdominal pain. The patient had already experienced seven episodes of acute pancreatitis within the past year alone, with his last hospitalization for the issue roughly one month prior to current admission. The patient had a remote alcohol and smoking history though he denied any use within the past 20 years, and he recently became a vegan in an attempt to reduce his risk for recurrent acute episodes of pancreatitis. On admission, the patient’s vitals were within normal limits and physical exam was significant only for severe LLQ tenderness and hypoactive bowel sounds. Labs revealed an aspartate aminotransferase of 14 U/L, alanine transferase of 12 U/L, alkaline phosphatase of 63 U/L, lipase 43 U/L, total cholesterol 138 mg/dL, triglycerides of 129 mg/dL, and an international normalized ratio of 1.4. Computed tomography (CT) of the abdomen and pelvis with contrast revealed an enlarging known cystic body in the pancreatic tail measuring 3.4 x 5.3 cm. Peripancreatic inflammatory changes were identified surrounding the distal body of the pancreas and extending along the spleen representing a pseudocyst (Figure ). The patient experienced resolution of symptoms post supportive management and intravenous (IV) hydration. He was discharged home with planned follow-up imaging of the pseudocyst to monitor its stability. |
pmc-6411334-1 | A previously healthy, non-obese, 16-year-old African-American female presented to a local hospital because of difficulty in breathing. Two weeks prior to this, she was diagnosed with oral thrush and prescribed nystatin by her primary care physician. She also had polyuria, polydipsia, weight loss, and decreased energy for a few days prior to presentation. She was found to have DKA at the local community hospital (serum glucose > 500 mg/dL, urine glucose > 1000 mg/dL, urine ketone > 80 mg/dL, capillary blood pH of 6.8, and serum sodium 110 mEq/L). She presented with moderate-to-severe dehydration and received two liters (~30 ml/kg) of crystalloid fluid bolus. She also received intravenous (IV) insulin bolus and sodium bicarbonate bolus before she was transferred to our tertiary care center.
Upon arrival at the PICU, she continued to exhibit severe metabolic acidosis. Her examination was remarkable for Kussmaul breathing, altered mental status responding only to painful stimuli, and signs of poor perfusion (tachycardia up to 140/min, capillary refill time of 3-4 seconds, and bilateral weak peripheral pulses). She was also noted to have skin lesions, which were multiple yellowish firm papules, around both knees and scattered over the face and trunk, as seen in Figure . Point-of-care serum sodium level was 122 mEq/dL but laboratory could not perform any tests on the sample since it was "too thick". It was difficult to obtain a blood sample from the peripheral IV line and once obtained, it would turn "milky". Her serum sodium showed a downward trend despite improvement in her metabolic acidosis. The possibility of hyperlipidemia was considered based on the appearance of her blood sample. Her serum triglyceride (TG) level was found to be 930 mg/dL and total cholesterol 332 mg/dL.
She was continued on IV insulin drip and twice maintenance IV fluids. Her mental status improved eight to ten hours after the admission, along with stabilization of serum glucose, but developed diffused abdominal pain with anorexia 12 hours after getting admitted to PICU. Her serum amylase was 155 unit/L and lipase 1100 unit/L. Abdominal ultrasound was consistent with acute pancreatitis and ruled out acute appendicitis, gall stone, and pancreatic pseudocyst. Between 12 to 36 hours after admission, her highest serum TG level was noted as 2515 mg/dL, highest serum amylase as 612 unit/L, and highest serum lipase as 5387 unit/L. Due to pancreatitis and lack of appetite, she was continued on insulin drip and maintenance IV fluid even after resolution of her metabolic acidosis. Serum glucose was measured every two hours and there was no hypoglycemic episode. Serum levels of amylase, lipase, and TG were checked every 12 hours during her PICU admission. Approximately 48 hours after admission, her appetite improved along with downward trending of serum TG (614 mg/dL) and serum lipase (574 unit/L). She was started on fenofibrate for hyperlipidemia. Dermatology was consulted for skin lesions, and the pathology report confirmed xanthoma. |
pmc-6411335-1 | A 64-year-old male patient was admitted after a fall from four stories with multiple orthopedic injuries in the chest, back, pelvis, and extremities. On post-injury day one, he underwent pelvic fixation complicated by an arrest with pulseless electrical activity (PEA). During the code, his right antecubital fossa 20-gauge PIV catheter was upsized to an 8.5 Fr RIC without immediate complication. This patient also received placement of a right radial arterial line. The patient received vasopressin and epinephrine after his PEA arrest, but was weaned off of these medications within 24 hours.
On RIC post-placement day two (post-injury day three), the patient’s dorsal hand and forearm became swollen with ecchymosis extending from the hand to the level of the elbow, while the upper arm and volar surfaces remained normal (Figure ). The patient's compartments were soft and the neurovascular exam was normal. All skin findings were isolated to the right arm.
Ultrasound revealed a noncompressible cephalic vein, related to either the catheter or thrombosis, and imaging of the hand showed an ulnar styloid fracture and a minimally displaced triquetral fracture.
The RIC was eventually removed, even in the setting of appropriate flushing and blood withdrawal. Over the next week, the areas of ecchymosis progressed to bullae and sloughing. Skin necrosis extended to the epidermis and dermis (partial thickness) of two-thirds of the dorsal forearm and hand, requiring debridement and local wound care (Figure ). This patient’s forearm wounds continued to heal but he ultimately expired from other causes. |
pmc-6411337-1 | A 42-year-old male presented to our outpatient department with an incidentally detected renal mass on ultrasonography of the abdomen done for a routine health check-up. The patient had no history of loin pain or hematuria. He never had any complaint of bone pain, loss of weight, or hemoptysis. There was no family history of malignancies. He was neither a smoker nor an alcoholic. There was no history of exposure to thorostat or vinyl chloride and he was a farmer by occupation.
On evaluation of his hemogram, renal parameters and liver function tests were within normal limits. Contrast-enhanced computed tomography (CT) was done which revealed a 10 cm x 8 cm heterogeneous enhancing mass involving the upper pole and interpolar region of right kidney (Figure ). The inferior vena cava and renal vein were free of thrombus and there was no regional lymphadenopathy. There was no evidence of distant metastases in the liver or bones. CT of the chest was also normal (Figure ). The patient underwent right-sided open radical nephrectomy. On the cut section, the tumor was seen to be composed of focal fleshy and necrotic areas intermingled with vascular spaces (Figure ). Histopathological examination revealed areas of extensive necrosis and anastomosing vascular spaces lined by pleomorphic cells (Figure ). The tumor had a high mitotic index of 25 to 30 per ten high power fields and a ki-67 index of 40%. Immunohistochemistry was done which showed strong positivity for cluster of differentiation (CD) 34; whereas, it was negative for epithelial membrane antigen (EMA), CD 10, and human melanoma black (HMB) 45 consistent with angiosarcoma. The surgical margins were free of tumor and the pathological staging was pT2bN0M0.
In view of the histological diagnosis of angiosarcoma, the patient was treated with adjuvant chemotherapy. He received three cycles of paclitaxel-based chemotherapy. The patient is doing well on one year of follow-up. Several reports of primary renal angiosarcoma indicate a dismal outcome and predilection for the old age group. However, the present case is unique in that it occurred in a young male with a relatively better outcome which was made possible by the timely diagnosis and management. |
pmc-6411339-1 | A 35-year-old Saudi female presented to her local hospital complaining of a three-week history of dry cough. Her past medical history was unremarkable. Chest imaging revealed a mass in the anterior mediastinum. The patient was referred to King Faisal Specialist Hospital (KFSH) for further workup.
Repeated chest X-ray revealed a right-sided para-pericardial mass in the anterior mediastinum and a significant decrease in the size of the right middle lobe opacity (Figure ). No other focal opacities were identified. The cardiac silhouette appeared unremarkable. There was no pleural effusion or pneumothorax.
A chest computed tomography (CT) was ordered for the patient, which revealed a cystic mass for which surgical resection was indicated (Figure ).
The patient was admitted and through a right thoracoscopic approach, the cyst was excised. Intraoperatively, there was significant adhesion of the right lung to the anterior chest wall surrounding the cyst. Dissection was made using diathermy hook and blunt dissection until the lung became almost completely free mainly in the anterior and mediastinal aspect of the pleura. A thick cyst at the anterior segment of the right upper lobe was identified. The cyst was then excised completely by wedge resection and small oozing around the hilum was encountered but controlled by clips. A small incision was made in the anterior chest wall and within was found cheese-like material. A chest tube was inserted in the apex and the anesthetist was asked to inflate the lung, which was done well. The wound was closed in layers, the patient was awoken, and she was sent to the recovery room in good condition. Her postoperative period was uneventful. The retrieved specimen consisted of 64.4 g of lung tissue measuring 14.5 x 6.0 x 3.0 cm. There was a mass opened on the pleural surface measuring 6.0 x 5.0 x 2.5 cm containing soft yellow material. The diagnosis of mature teratoma was then established. The chest tube was removed on the postoperative day two. The patient was discharged on postoperative day three in a good shape. The patient was given a follow-up appointment to the thoracic surgery clinic. |
pmc-6411340-1 | We present the case of a 73-year-old male with a history of mild scoliosis diagnosed with PD in 2007. Symptoms at the time of onset included decreased left-arm swing and mild bilateral upper extremity rigidity, with no evidence of postural deformity. Over subsequent years the patient developed mild bradykinesia, increased rigidity, hypophonia, and sialorrhea. The patient’s symptoms were well managed with medical therapy including pramipexole, rasagiline/selegiline, amantadine, carbidopa/levodopa. In 2012 the patient developed suspected Pisa syndrome with rapid onset of rightward leaning posture which did not improve with physical therapy, cessation of selegiline, or Botox injection. His postural changes progressed in severity which resulted in severe pain and decreased quality of life (Figure ).
Spine X-rays showed interval increase in his thoracolumbar scoliosis (Figure ).
The patient was evaluated for possible surgical correction of the deformity and was offered an extensive instrumented fusion. The patient was also evaluated for possible DBS as a means of treating his dystonia which was felt to be the source of his postural disorder. Given the evidence supporting globus pallidus internus (GPi) stimulation as a nondestructive treatment for dystonia and other Parkinson’s-related symptoms, he opted to proceed with DBS.
The patient underwent bilateral GPi deep brain stimulator (DBS) placement and delayed pulse generator (IPG) placement. A Fred Haer Corporation’s WayPointTM Stereotactic System and STarFixTM frameless stereotactic positioning platform were fixed to the patient using bone anchored fiducials. Using the microTargetingTM StarTM Drive system, microelectrode recording was performed. Target mapping was completed through the target with satisfactory findings. Intraoperative fluoroscopy was utilized to confirm placement, then the microelectrode was removed. The stimulating electrode was then placed and appropriate positioning was confirmed with fluoroscopy. Intraoperative testing was conducted for effectiveness and side effects. This was completed with good results. Confirmatory head computed tomography (CT) scan was obtained to ensure appropriate placement and evaluate for hemorrhage. This study confirmed appropriate placement and showed no unexpected changes. The patient returned to the operating room seven days later for the placement of the Medtronic Activa® Neurostimulator IPG. The cranial incision was again accessed and the leads recovered. The cranial leads were connected to intermediate wires which were tunneled to the IPG generator located just below the left clavicle. The leads were connected and diagnostic testing confirmed proper function. A confirmation head CT scan was obtained to ensure there was no intracranial lead migration (Figure ).
His post-operative course was unremarkable and the patient returned for his initial IPG programming session approximately two weeks after placement. The patient did report a transient improvement of his symptoms following placement of the stimulators which was felt to be a lesion effect. At the time of initial programming, his symptoms were unchanged when compared to pre-operative findings. He again reported bradykinesia, rigidity, and significant rightward dystonic posturing with severe back pain and ambulatory difficulty. His axial deformity at this time was approximately 45 degrees. His medication regimen was unchanged throughout the perioperative period. He underwent a thorough programming session with maximum symptom relief achieved at a setting of C+/3-, pulse width of 90, rate of 130, and 3.5 volts on the left lead. The right lead was set to C+/11-, pulse width of 90, rate of 130, and 3.5 volts. The patient reported no significant side effects as a result of the programming.
The patient was seen at two-month intervals for assessment and to make minor adjustments to his IPG settings. The only change made to his initial settings was an increase in voltage from 3.5 to 5.0 volts bilaterally over multiple programming visits. Significant improvement was observed at his initial follow-up visit with a reduction in his rightward axial deviation. The patient continued to lean rightward but to approximately 25 degrees. He also experienced a significant reduction in his back pain. His ambulatory dysfunction was markedly improved with less difficulty rising from sitting, increased walking rate, and decreased postural instability. His bradykinesia and rigidity have also improved with placement of the GPi leads. Gradual improvement in his postural deformity has been observed over a four-year follow-up period. His postural deformity due to axial dystonia was felt to be resolved at seven months post-DBS placement. He maintained a slight rightward postural deviation which was essentially unchanged in comparison to his longstanding scoliotic deformity prior to the onset of PD and dystonia. No significant alterations were made to his medications during this follow-up period. In addition to the improvement of his dystonic symptoms, his steps-to-turn count was reduced from eleven to two, he no longer displayed a shuffling gate, and his finger and heel tap was essentially normal. |
pmc-6411341-1 | A 57-year-old male patient reported to our private practice with injuries to his cheekbone attributed to a road traffic accident. He reported sustaining a fall from a two-wheeler (motorcycle) 24 hours prior to presentation, resulting in an impact to his face. He was not wearing a helmet at the time of impact. He was stable at the time of presentation, and he had no known history of loss of consciousness, vomiting, or amnesia (Figure ). He was referred to a general physician and a neurosurgeon for further examination and to obtain clearance to proceeding with surgical management of the fractured facial bones. The patient was again referred to us once deemed fit to undergo surgical management of facial bone fracture under general anesthesia. A detailed ophthalmic examination revealed no visual disturbances. The patient reported he has diabetes managed via medication for the past seven years.
On extra oral examination, we noted swelling and abrasion over the right zygomatic region. We found no obvious subconjunctival hemorrhage, diplopia, or enophthalmos (Figure ). The patient exhibited normal ocular movements in all gazes. He had no other lacerations or soft tissue injury on his face. An intraoral examination revealed a normal occlusion; we saw no signs of fracture or mobility of any teeth. The patient had a mouth opening of 36 mm. The temporomandibular joint movements were normal, and there was no restriction or difficulty in opening his mouth. We noted tenderness in the right zygomaticomaxillary buttress and the right infraorbital rim. An infraorbital step was noted on the right side. We found no evidence of sublingual hematoma. Crepitus was noted in the right zygomaticomaxillary buttress region.
A computed tomography (CT) scan revealed a fracture of his right zygomaticomaxillary buttress region and right infraorbital rim region (Figures -).
An open reduction and internal fixation of the right zygomaticomaxillary buttress and the right infraorbital rim was planned under general anesthesia. We placed an upper vestibular incision in the right side, and the fracture was exposed using subperiosteal dissection (Figure ). We exposed the right infraorbital rim using a retroseptal transconjunctival approach (Figure ). The lower eyelid was retracted using a Desmarres retractor. A corneal shield was placed to protect the eyeball, preventing corneal abrasions or tearing (Figure ). The inferior fornix was held with toothed tissue-holding forceps, and an incision was placed into the palpebral conjunctiva using a Colorado tip (Stryker CMF, Chicago, IL, USA) electrocautery between the lowermost point of the eyelid and inferior fornix (Figure ). Tenotomy scissors were used to locate the inferior orbital rim, and dissection was done until the periorbita was reached (Figure ). A sub-periorbital dissection was done to expose the inferior orbital rim. The fracture was reduced using Rowe’s zygomatic elevator. After reduction, the zygomaticomaxillary buttress was fixed using a 2-mm Titanium L miniplate and five screws (2 mm x 6 mm; Stryker CMF, Chicago, IL, USA; Figure ). The site was closed with 3-0 Vicryl sutures. The right infraorbital rim was fixed using a 1.5-mm Titanium orbital plate and four screws (1.5 mm x 6 mm; Stryker CMF, Chicago, IL, USA; Figure ). The conjunctiva was closed with 4-0 Vicryl buried sutures to prevent corneal injuries from the sutures. A Frost suture was placed involving the lower tarsal plate and suspended from the right forehead region and retained for three days postoperatively. The patient was prescribed postoperative topical antibiotic drops (Ciprofloxacin) and eye lubricants (Carboxymethylcellulose) for five days. A Frost suture was placed in right lower eyelid for three days, suspending the lower eyelid. |
pmc-6411342-1 | A 26-year-old female healthcare worker who had immigrated from India several years prior presented to her primary care physician with an acute onset of severe back pain after a trip home to India. The pain radiated down both legs, was worse at night and with activity, and was relieved with naproxen and oral methylprednisone. Past medical, surgical, and social history were otherwise unremarkable. A mechanical etiology was suspected and the patient was managed conservatively with physical therapy. Over the following weeks, she developed urinary frequency, constipation, and dysmenorrhea. She was initially diagnosed with pelvic floor dysfunction. Her back pain continued to progressively worsen over the following months, and she was started on prednisone. She did report unintentional weight loss but denied other constitutional symptoms.
Her physical exam remained normal, except for right sacroiliac joint and lumbar spinal tenderness. The straight leg raising test was also positive bilaterally. Rheumatologic markers were unremarkable though her white cell count was elevated at 12.9. An infectious disease specialist was consulted and felt that infectious disease was unlikely in the setting of a normal C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). An MRI of the pelvis and lumbar spine demonstrated bone marrow edema in the inferior aspect of the right sacroiliac joint, thought to be consistent with an early stage of sacroiliitis. A Schmorl's node at L4 was also reported (Figure ). Based on the clinical and MRI findings, the patient was diagnosed with early-stage ankylosing spondylitis. The rheumatology service was consulted, and she was treated with hydroxychloroquine and prednisone. Hydroxychloroquine was stopped after two weeks due to the development of myalgia and visual floaters. Immunosuppressive therapy was proposed as an alternative, so a QuantiFERON-TB Gold test© (Qiagen, Hilden, Germany) was ordered. This resulted as positive. Interestingly, a purified protein derived (PPD) skin test one year prior had been negative and a chest X-ray was also within normal limits.
Although the spinal lesion seen did not have the characteristic features seen in spinal tuberculosis, a needle biopsy was performed. This revealed necrotizing granulomas with rare acid-fast bacilli. The sputum analysis was then found to be positive for Mycobacterium tuberculosis. The patient was started on a four-drug regimen of isoniazid, rifampin, ethambutol, and pyrazinamide. The sputum culture was negative twice after two weeks of treatment.
Despite medical management, she was admitted to the hospital a year after the onset of her symptoms with fever, severe nausea, and emesis. Repeat CT of the lumbar spine without contrast showed a lytic lesion in the L4 vertebral body with a partial compression fracture and mild retropulsion of bone into the ventral spinal canal (Figure ). A repeat lumbar MRI showed edema and enhancement of the L4 vertebral body with erosive changes and subligamentous spread consistent with tuberculous discitis and osteomyelitis. There was an epidural collection at the L3-4 level, with sub-articular zone involvement (Figure ). The left neural foramen and exiting nerve root were also involved. At this point in time, the neurosurgery service was consulted. Due to the small size of the epidural component, a stable neurologic exam without any focal deficits, patient preference, and aggressive medical management was recommended.
However, the patient continued to have a persistent fever above 38°C, worsening radicular pain, and declining functional status. The follow-up MRI revealed an expanding epidural abscess and eroded lumbar vertebrae with progressive kyphosis as compared with two months prior (Figure ). Her spine was stabilized with a thoracolumbosacral orthosis (TLSO) brace to minimize the risk of neurological decline. Posterior lumbar decompression with an evacuation of the abscess, L4 corpectomy, anterior column reconstruction, and instrumented fusion from L2-S1 were strongly recommended. However, the patient refused surgical treatment and requested to continue with conservative management.
A second opinion was then sought from an outside hospital. A two-month course of intravenous amikacin was added to her antimicrobial regimen. Despite the physical deformity and our continued recommendation for surgery, the patient has continued to prefer non-surgical management. Her most recent MRI performed 18 months after the diagnosis of spinal tuberculosis and initiation of anti-tuberculosis therapy showed decreased evidence of osteomyelitis and resolution of the psoas collection (Figure ), A plain radiograph was also performed, which showed stable loss of vertebral body height and stable grade 1 spondylolisthesis at L3-4, without any increase in angular deformity or motion seen in the flexion-extension views (Figure ). The patient has continued to request non-surgical management and has since requested not to undergo any additional follow-up imaging. At the most recent clinical follow-up at 22 months after initial diagnosis, she is neurologically intact and ambulatory with minimal back pain. |
pmc-6411342-2 | A 26-year-old male prisoner presented with a sudden onset of bilateral loss of motor and sensory function below the waist and urinary retention for two days. He reported an eight-month history of chronic mid-thoracic pain and a three-month history of progressive sensory loss over his feet. He denied recent trauma or illness. His PPD five months’ prior was negative. He denied smoking or a history of intravenous drug use. The physical exam was significant for saddle anesthesia, absent strength in the bilateral lower extremities, diminished sensation to pinprick below the T4 level, and hyperreflexia in both lower extremities. Basic labs, human immunodeficiency virus (HIV) testing, and a hepatitis panel were normal.
A thoracic MRI with and without contrast demonstrated a peripherally enhancing collection centered within the T6-T7 disc space. Endplate erosion, mild retrolisthesis, paraspinal extension, and epidural involvement causing severe cord compression were seen. Subligamentous spread beneath the anterior longitudinal ligament from T4 through T8 was also seen (Figure ). The findings were consistent with discitis and osteomyelitis. Given the subligamentous spread, tuberculosis was considered in the differential.
CT of the thoracic spine re-demonstrated erosion of the T6 and T7 vertebral bodies, pedicles, and adjacent ribs. A heterogeneous, predominantly low-density collection extending into the paraspinal region, subligamentous space, and epidural space was also visible on the CT scan. In addition, patchy parenchymal opacity was present in the apex of the right lung. A thoracic CT was then performed, which showed diffuse pleural thickening on the right, with more focal pleural plaques and multiple pulmonary nodules.
The patient underwent emergent T6-7 hemilaminectomy with partial costovertebrectomy and T4-9 posterior spinal fusion (Figure ). Fluorochrome stain from intraoperative cultures revealed acid-fast bacilli. Anaerobic and fungal cultures did not grow any organisms. A QuantiFERON-TB Gold test© (Qiagen, Hilden, Germany) was positive for Mycobacterium tuberculosis.
On the first post-operative day, lower extremity motor examination had improved to a 4+/5 weakness of the iliopsoas and quadriceps bilaterally. Distal lower extremity musculature, including hamstrings, anterior tibialis, and gastrocnemius, were graded at 1/5. The patient was started on rifampin, isoniazid, pyrazinamide, and ethambutol. The patient was discharged to acute inpatient rehabilitation on the ninth postoperative day. At discharge, he had full motor strength in the lower extremities with the exception of 3/5 bilateral extensor hallucis longus strength. He continued to have sensory deficits in the lower extremities bilaterally. A month and a half following discharge, the patient was readmitted to the hospital due to a wound infection, which was debrided and treated with antibiotics. At the most recent follow-up one-year postoperatively, the patient was neurologically intact. Follow-up imaging showed the stable appearance of the hardware, resolution of the epidural collection, and stable signal change in the superior aspect of the T7 vertebral body without any evidence of disease progression (Figure ). |
pmc-6411594-1 | A 5-day-old girl was referred to us with bilious vomiting and abdominal distention since birth. The baby was born at term by caesarean section to a 30 year old primigravida mother. The baby weighed 2.79 kg at birth. Antenatal ultrasonography at 32 weeks gestation had revealed multiple, dilated, fluid filled bowel loops. At admission, the baby was dehydrated with a distended abdomen. Rest of the systemic examination was unremarkable. Blood investigations were within normal range. X-ray abdomen revealed few dilated bowel loops, paucity of distal gas shadows and nasogastric tube in the right upper quadrant of abdomen (). Ultrasound abdomen revealed liver predominantly on the left side of abdomen, multiple spleen like structures on the right side with distended bowel loops. Echocardiography revealed ostium secundum atrial septal defect of 5 mm with levocardia.
Since pre-operative diagnosis of abdominal situs inversus was known, a left upper quadrant transverse incision was given in contrast to the classical right upper quadrant transverse incision. Laparotomy confirmed situs inversus abdominis with the liver and duodenal C loop on the left side (a). The baby had three spleens on the right side (b). The proximal jejunum was massively dilated and there were multiple jejunal atresias (5 in number) starting from about 45 cm from the duodenojejunal flexure (a). The entire distal small bowel was supplied by a single branch of the ileo-colic artery and had apple peel appearance. There were several Ladd’s bands crossing the second part of duodenum with narrow base mesentery. The segment of jejunum containing the atretic segments was excised and cut back of the bulbous proximal jejunal end was done. End to side jejuno-ileal anastomosis was done (b), Ladd’s procedure done and a trans-gastric trans-anastomotic feeding jejunostomy done. The residual small bowel length was about 145 cm.
Post-operatively the child was shifted to newborn ICU. Immediate post-op period was uneventful. The baby was started on tube feeds by post-op day (POD) 3, however oral feeds were not tolerated till POD 14. This may be due to hypo-peristalsis in the dilated proximal jejunum. Full oral feeds were reached by POD 28 and the baby was discharged. At 18 months follow up, the baby is thriving well and is asymptomatic. |
pmc-6411602-1 | A 72-year-old healthy male presented with mild, intermittent, non-radiating, epigastric pain, that was associated with nausea and vomiting. Pain was exacerbated by food intake and relieved by fasting. The rest of the history was unremarkable. Physical examination findings were unremarkable with no evidence of palpable abdominal mass.
PET-CT scan revealed a mass located in the GEJ extending to the cardia with heterogeneous thickening. The study also showed normal mediastinal structures with no evidence of lymphadenopathy or metastasis (). Endoscopic Ultrasound showed a T1 mass () and the pathology report for the endoscopic biopsy indicated a low-grade intestinal type adenocarcinoma. The mass was staged as T1 GEJ Carcinoma (T1N0M0).
On the 22nd of May, 2016, the patient underwent endoscopic submucosal dissection, the first of its kind to be performed in Saudi Arabia. There were no other lesions, suspicious masses or hiatal hernia. Dissection started from the proximal end and advanced deep within and below the mucosa. Then, parts of the mass were cut one by one using a circular cautery. The targeted tissues were retrieved carefully in the basket while maintaining adequate hemostasis. An intra-operative frozen section was sent to pathology that confirmed Gastric cancer intestinal type () and satisfactory negative margins of each side that was taken separately. To ensure that adequate resection was achieved, and the mass was completely retrieved with negative margins, the scope was inserted multiple times and the targeted area was inspected thoroughly. As a first case, working in a retroflex position during the dissection of the distal part of the mass was our biggest challenge considering its difficult location. The procedure was carried out with minimal bleeding that was encountered and controlled. Suspicious micro-perforations were reviewed cautiously, yet, no significant adverse effects had been observed. At the 18 months follow up, no recurrence or metastasis were detected (). |
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.