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pmc-6398077-1 | Clinical History. A 27-year-old African American male with a history of unprovoked recurrent right lower extremity deep vein thrombosis and bilateral testicular hydrocele presented with a 4-week history of bilateral flank and generalized nonradiating lower abdominal pain. The pain was described as constant ache, associated with early satiety, but without nausea/vomiting, diarrhea, melena, or hematochezia. He denied weight loss or any urinary symptoms. Social history was negative for tobacco smoking and alcohol or recreational drug use. Medications included diphenhydramine as needed for sleep and apixaban.
Physical Exam. Vital vital signs revealed temperature 37.1°C, blood pressure 121/69 mmHg, pulse 96 beats/minute, and respiratory rate 16/minute. Lungs and heart exams were unremarkable. Lower half abdomen was mildly tender with palpation, but without mass, rebound, or guarding. There was mild right costovertebral angle tenderness and trace bilateral pedal edema. Genitalia were within normal limits without edema.
Initial Laboratory Data. Routine chemistry revealed serum sodium 133 mEq/L, potassium 5.0 mEq/L, chloride 98 mEq/L, bicarbonate 25 mEq/L, blood urea nitrogen 57 mg/dL, creatinine 12.6 mg/dL (baseline of 1.0 mg/dL one month prior), estimated glomerular filtration rate 6 mL/min/1.73 m2, and calcium 8.6 mg/dL. Urinalysis revealed specific gravity 1.014, pH 8.0, no red or white blood cells, 100 mg/dL protein, and no glucose or blood. Urine protein to creatinine and albumin to creatinine ratios were 0.5 and 0.293 g/g creatinine respectively. Renal ultrasound and abdomen/pelvis CT without contrast revealed mild bilateral hydroureteronephrosis with nonspecific inflammatory changes ().
The bland urinalysis and lack of significant proteinuria/albuminuria suggest tubulointerstitial injury (late phase of acute tubular necrosis, chronic tubulointerstitial nephritis) or obstructive uropathy. Differential diagnoses of obstructive uropathy relevant to current African American patient with unknown sickle cell history include recently passed papillary necrotic tissues or bladder stone, complicated medullary carcinoma (associated with sickle cell trait), diphenhydramine-induced neurogenic bladder, or retroperitoneal fibrosis (RPF). Rapidly progressive glomerulonephritis is thought to be less likely given the bland urinalysis.
Additional Investigations. Given the mismatched relatively benign findings of both urinalyses and imaging studies and degree of kidney failure and associated symptomology suspicious for RPF, an abdomen and pelvis CT with intravenous contrast was obtained.
Abdomen and pelvis computed tomogram with intravenous contrast revealed mild bilateral hydroureteronephrosis with point of obstruction at the level of distal abdominal aorta and inferior vena cava. There was an ill-defined, infiltrative soft tissue mass encasing both aorta, and inferior vena cava (approximately 7.2 cm). The mass appeared to infiltrate along the bilateral proximal common iliac vessels ().
Serologies to evaluate for autoimmune diseases and infectious etiologies including C-reactive-protein, human-immunodeficiency-virus, QuantiFERON gold, and antinuclear-antibody were negative. Serum lactate dehydrogenase obtained for possible lymphoproliferative disorder was mildly elevated at 248 IU (reference <192 IU). IgG4 level was 44.2 mg/dL (reference 4-86 mg/dL). Laparoscopic retroperitoneal mass biopsy revealed dense fibroadipose tissue with lymphocytic aggregates, focal scattered IgG4 positive plasma cells, and fibrin deposition without malignant cells.
Diagnoses. The diagnosis of idiopathic RPF was made. Kidney failure was thought to be due to severe bilateral ureteral encasement by RPF.
Clinical Follow-Up. Patient underwent bilateral nephrostomy placement with rapid improvement of serum creatinine. In addition, patient received a trial of prednisone 40 mg daily. At 4-month follow-up, kidney function normalized and CT revealed marked reduction in RPF size (). |
pmc-6398079-1 | A 74-year-old man from a high-care-level nursing home was brought in by ambulance with a sudden decrease of GCS that had persisted for one day. Collateral history from the nursing home revealed that the patient had developed upper respiratory tract symptoms including cough and a runny nose in the past week. He was reviewed by a local general practitioner 4 days prior because of desaturating on room air. The local general practitioner started the patient on a 3 L nasal cannula and Augmentin Duo Forte. The patient initially recovered well with nasal oxygen and was active in the nursing home. However, a dramatic decline in his consciousness in the morning left him unarousable, which pressed nursing home staff to seek urgent medical help.
The patient had a background of acquired brain injury and normal pressure hydrocephalus; a ventriculoperitoneal (VP) shunt was inserted 30 years ago. Other past histories included epilepsy, hypertension, advanced dementia, and schizoaffective disorder. He was admitted into the same hospital 2 months prior because of delirium secondary to community-acquired pneumonia. At the time, a CT-brain scan showed bilateral VP shunts in place and no acute intracranial pathology (). The patient is usually verbal and mobile with a 4-wheel frame walker at the nursing home.
On admission, the patient's GCS was recorded as 9/15 E4, V1, M4. A CT scan demonstrated a massive volume of intracranial gas with positive pressure effect within the lateral and third ventricles. The CT scan of the base of the skull also revealed a small bony defect at the right cribriform plate with gas traversing from the nasal cavity to the cranium ().
Unfortunately, due to his comorbidity and high anaesthetic risks, the neurosurgical team deemed the patient unsuitable for operation. He was conservatively managed with high-flow nasal oxygen and subsequently transferred to and palliated in a nursing home. |
pmc-6398080-1 | An 80-year-old woman with hypertension, chronic obstructive pulmonary disease (COPD), hypothyroidism, hyperlipidemia, congestive heart failure (CHF), and long-standing history of Raynaud's was diagnosed with late-onset SLE 2 years prior to the onset of lupus nephritis. At the time of diagnosis, her disease manifestations included subacute cutaneous lupus erythematosus (SCLE), pancytopenia, Raynaud's with nail-fold capillary changes, sicca symptoms, and photosensitivity. Evaluation for etiology of pancytopenia with bone marrow aspiration/biopsy with flow cytometry and cytogenetic studies, laboratory profile, and CT chest/abdomen/pelvis did not show evidence for primary bone marrow stem cell process or malignant lymphoproliferative disease. Around this time, she developed erythematous plaque lesions with scaling on her upper extremities, and biopsy findings were thought to be consistent with SCLE.
Medications included amlodipine for Raynaud's and Restasis for dry eyes. Family history was notable for a grandson with Crohn's disease but no other autoimmune diseases. Social history was remarkable for secondhand smoke exposure but no active smoking, alcohol, or drug usage.
The pertinent diagnostic tests at the time of SLE diagnosis which were positive include anti-nuclear antibody titer 1 : 1280 finely speckled, elevated rheumatoid factor (RF) of 456 IU/ml (N: 0–20 IU/ml), positive SS-A/Ro > 8.0 and SS-B/La > 8.0 antibodies, anti-beta-2 glycoprotein IgM Ab >100 U/ml, CRP level 3.9 mg/l (N: 0–5 mg/l), and ESR 51 mm/hour (N: 0–20 mm/hour). The serologic tests that were negative include anti-dsDNA Abs, complement C3 level 154 mg/dl (N: 106–194 mg/dl), complement C4 level 38 mg/dl (N: 19–50 mg/dl), cyclic citrullinated peptide IgG, cryoglobulin, serum immunofixation, Scl-70 scleroderma, Smith, RNP, cardiolipin antibodies, and lupus anticoagulant. Urine studies at the time revealed 2 + proteinuria, no hematuria or pyuria, urine protein to creatinine (PC) ratio of 0.2 (N: 0.0–0.1), and creatinine level of 0.93 mg/dl and eGFR >60 ml/min/1.73 m2.
About 2 years after the diagnosis of late-onset SLE, she was admitted and managed for a CHF exacerbation. During this hospitalization, she developed acute kidney injury (AKI) with creatinine increasing to 1.92 mg/dl during active diuresis. However, the creatinine level never came back to the baseline leaving her with a new baseline of 1.7 mg/dl and eGFR of 28 ml/min/1.73 m2. The etiology of the AKI was thought to be due to use of diuretics during CHF exacerbation or use of contrast during that hospitalization; however, there was a concern for the development of LN. This prompted repeating urine studies showed 4 + protein on urinalysis, worsening urine PC ratio of 1.9, and 24-hour urine protein of 1170 mg/24 hour (N: 50–150 mg/24 hour). At the time of diagnosis, there was no hematuria, an inactive urine sediment, negative dsDNA, normal ESR and CRP, and normal C3 and C4 levels. There were no symptoms or exam findings consistent with active lupus. Kidney biopsy revealed lupus nephritis, International Society of Nephrology/Renal Pathology Society class IV, active and chronic with the following findings: mild, focal mesangial hypercellularity, marked thickening of the glomerular capillary wall, segmental duplication of the glomerular baseline membrane in >50% of glomeruli, and a small focal area of interstitial nephritis with a mononuclear infiltrate. There was no necrosis, crescents, vasculitis, or focal segmental glomerulosclerosis (). Immunofluorescence showed focal segmental granular staining along the glomerular basement membrane (GBM) for IgG (trace-1+), IgM (4+), IgA (1-2+), Kappa (3-4+), lambda (3-4+), C1q (2-3+), and C3 (1-2+). Electron microscopy showed global glomerular capillary wall thickening, GBM duplication, and subendothelial deposits with no significant podocyte foot effacement ().
Upon diagnosis of lupus nephritis, she was started on 60 mg of oral prednisone and mycophenolate mofetil alongside atovaquone for Pneumocystis jiroveci pneumonia prophylaxis (sulfa allergic). Repeat urine studies after 4 weeks of being on treatment showed no proteinuria, urine PC ratio of 0.7, and improvement in creatinine to 1.4 mg/dl. She unfortunately died from infection as a complication of therapy despite renal improvement after 2 years of lupus. |
pmc-6398082-1 | A 57-year-old gentleman with a past medical history of well-differentiated pancreatic neuroendocrine tumor (NET) with liver metastases was transferred to our hospital with abdominal pain. He presented to an outside hospital three days after undergoing a diagnostic ultrasound-guided percutaneous liver biopsy as part of his participation in an experimental treatment protocol. Following the biopsy, he developed worsening of a chronic right upper quadrant abdominal pain, now coming in waves and radiating throughout the abdomen. He denied having any fevers, nausea, vomiting, or signs of gastrointestinal bleeding. However, he had not had any bowel movements for several days prior to presentation even though he continued to pass flatus. He had been diagnosed with a well-differentiated neuroendocrine tumor about seven years prior to this admission and had several hepatic metastases, making him a nonoperative candidate. He failed multiple treatment modalities including octreotide, Afinitor, pazopanib, Temodar, capecitabine, and temozolomide in combination with Y-90 and bland embolization.
Upon presentation, his vitals were unremarkable. Pertinent labs revealed liver enzyme elevations including an AST 524 U/L, ALT 614 U/L, alkaline phosphatase 224 U/L, and total bilirubin 5.0 mg/dL. Other labs were notable for a normal white blood cell count and lipase, as well as hemoglobin 13.6 gm/dL. A computed tomography scan of the abdomen and pelvis revealed diffuse hepatic metastatic disease (, arrow 1) with a slight increase in disease burden when compared to a scan obtained one week previously. Additionally, a lobulated partially calcified pancreatic mass (, arrow 2) with sequela of prior embolization was unchanged and the gallbladder was distended with high density material in the lumen without gallbladder wall thickening, pericholecystic stranding, or pericholecystic fluid (, arrow 1). There was no evidence of bile duct dilatation. His hemoglobin decreased to 10.2 gm/dL without any signs of gastrointestinal bleeding and his liver enzymes remained abnormal; therefore he was transferred to our institution for further management. His hemoglobin continued to decrease, but he started having melena, indicating the source of blood loss. Upper endoscopy revealed blood clots emanating from the papilla with fresh blood in the duodenum ().
This patient was diagnosed with gastrointestinal blood loss after liver biopsy without evidence of a vascular fistula. Initially, he was managed conservatively with consultative help from hepatobiliary surgery and interventional radiology. He was discharged after his hemoglobin stabilized. However, he was readmitted with recurrent melena and underwent upper endoscopy with EUS but neither extravasation of blood from the biliary tree nor a vascular fistula was found. Repeat CT angiography of the abdomen was negative for active bleeding. An empiric embolization of retroduodenal/retroportal collaterals arising from the stump of the GDA (the patient had previously undergone GDA embolization for his NET approximately 1 year prior to presentation) but he continued to bleed. Repeat embolization of the right hepatic artery was performed with focused treatment of a segment V arterial branch, presumed to be supplying the territory of the previous liver biopsy. The patient's bleeding resolved and his liver enzymes stabilized. He was discharged from hospital and remained in good condition on follow-up in the outpatient clinics. |
pmc-6398184-1 | A nine year-old Turkish boy (VI.2 in ) presented with abdominal pain and fever. He was diagnosed with perforated appendicitis and was referred to the endocrine clinic for coexisting hyperglycaemia (blood glucose level was 27.75 mmol/L). A detailed family history revealed the presence of diabetes in multiple members of the maternal family (see details on the pedigree and footnotes). Specifically, the patient’s mother was on insulin therapy for diabetes mellitus which had been diagnosed during the first trimester of pregnancy, when she was 24 years of age. A maternal uncle was also affected. There was also a history of neonatal hypoglycaemia of varying duration and severity affecting two of the patient’s siblings.
The patient was the first living child of the family and was born with a birth weight of 3750 grams (+6.6 SD) via caesarian section at a gestation age of 29 weeks. Parents were distantly related. He presented with a hypoglycaemic episode at postnatal day one (blood glucose was 1.33 mmol/L and simultaneous insulin level was 22.7 µIU/mL, C-peptide 5.42 ng/mL (0.9-7.1). A diagnosis of HH was considered and diazoxide was commenced. The patient developed pulmonary edema, which was considered likely to be a complication of treatment with diazoxide. Diazoxide was subsequently stopped and octreotide therapy was introduced. Hypoglycaemia remitted at the age of three months and the child remained free of hypoglycaemic episodes until nine years of age, when he was admitted to our hospital.
On admisson, the child was lethargic and had pale and grayish colour skin. His height was 140 cm [0.7 standard deviation score (SDS)], weight was 35 kg (0.8 SDS), and body mass index (BMI) 17.8 (0.7 SDS). Respiratory rate was 20 breaths/minute, heart rate was 72 beats/minute and blood pressure was 90/60 mmHg. There was abdominal distention, rigidity and rebound tenderness on physical examination. The patient underwent emergency appendectomy. During the post-operative period hyperglycaemia persisted and subcutaneous insulin therapy was introduced. Laboratory investigations revealed a blood glucose of 13.2 mmol/L with a simultaneous insulin of 8.82 µIU/mL (2.6-25), C-peptide: 1.28 ng/mL (0.9-7.1). Glycosylated haemoglobin A1c (HbA1c) was 9.1% (76 mmol/L). Islet cell, anti-insulin and anti-glutamic acid decarboxylase antibodies were negative. Over the following two months the insulin requirement gradually decreased until insulin treatment could be completely withdrawn. During the follow-up, HbA1c remained within the range of the high normal limits (6.2% to 6.4%) with dietary intervention and lifestyle changes. At the age of 11.5 years HbA1c was shown to be again significantly raised at 9.6% (81 mmol/L). At this time his weight was 46 kg (0.9 SDS), height was 152 cm (0.8 SDS) and BMI was 19.9 (0.9 SDS). The patient and family refused recommencement of insulin therapy. Subsequently, HbA1c increased to 11.4% (101 mmol/l) at the age of 12 years when an oral glucose tolerance test suggested insulin deficient-diabetes mellitus ().
Genomic DNA was extracted from peripheral leukocytes using standard procedures and the coding regions and intron/exon boundaries of the ABCC8, KCNJ11, HNF4A and HADH genes were amplified by polymerase chain reaction (primers available on request). Amplicons were sequenced using the BigDye Terminator Cycle Sequencing Kit V.3.1 (Applied Biosystems, Warrington, UK) according to manufacturer’s instruction and reactions were analysed on an ABI 3730 Capillary sequencer (Applied Biosystems, Warrington, UK). Sequences were compared with the reference sequences (NM_001287174.1, NM_000525.3, NM_175914.4 and NM_005327.4) using Mutation Surveyor v5.0.1 software (SoftGenetics, State College, Pennsylvania, USA). The variant was classified using the American College of Medical Genetic and Genomics/Association for Molecular Pathology guidelines ().
A written informed consent was obtained from the patients and/or their legal guardians. |
pmc-6398186-1 | The proband was a 20-year-old woman with classical features of TS, including webbed neck, widely-spaced nipples, a high-arched palate, a bicuspid aortic valve, coarctation of the aorta (surgically repaired at one year of age) and a 45,X karyotype on an antenatal amniocentesis. Other comorbidities included bipolar disorder, dyscalculia, bilateral kidney malrotation, steatohepatitis and an episode of hemorrhagic gastritis of unclear etiology. At age 11, she was found to have an elevated plasma calcium level of 12.1 mg/dL [reference range (RR): 8.5-10.3 mg/dL], an intact parathyroid hormone (PTH) level of 369 pg/mL (RR: 14-72 pg/mL), a plasma phosphorus level of 1.7 mg/dL (RR: 3.0-6.0 mg/dL) and a urinary calcium to urinary creatinine ratio of 0.19. Technetium-99m (Tc-99m) sestamibi scan revealed an enlarged right superior parathyroid gland. She underwent resection of the enlarged parathyroid and surgical pathology showed a right superior parathyroid adenoma measuring 1.1x1.0x1.6 cm and weighing 1.07 grammes. Intraoperative sampling of the right internal jugular vein showed a drop in PTH from 815 to 42 pg/mL following resection. Five months post-surgery, she developed abdominal pain and emesis and was found to have a left distal ureteral calculus, left hydronephrosis and bilateral nephrocalcinosis and bilateral nephrolithiasis, leading to a ureteroscopy with stone extraction. At that time her urinary calcium to urinary creatinine ratio was 0.12. Post-stone extraction, she remained normocalcemic until age 16, when she was found to have an elevated plasma calcium level of 11.4 mg/dL, elevated intact PTH level of 108 pg/mL and a plasma phosphorus level of 3.8 mg/dL. Neck ultrasound showed a solid, hypoechoic nodule posterior to the midportion of the right thyroid measuring 9x6x4 mm with detectable internal vascularity on Doppler, consistent with a second enlarged parathyroid. The Tc-99m sestamibi scan did not show an area of increased activity, but given ultrasound findings and biochemical results she had a second parathyroidectomy, yielding a 0.136 gramme, hypercellular parathyroid and a decrease of the intraoperative PTH from 136 to 28 pg/mL. She has been normocalcemic since.
The patient grew along the 75th-90th percentiles of the TS height-for-age growth chart () since birth. Her final height prediction, given her parental heights, was 171 cm. Growth hormone therapy (0.35 mg/kg/week) was initiated at seven years of age. However, her family felt this treatment led to agitation and overactivity and was therefore discontinued after less than one year of therapy. It was never restarted and she continued to grow along the 90th percentile for TS, achieving an adult height of 150 cm, consistent with roughly the 1st percentile of the CDC growth chart for girls without TS () ().
The proband required special education classes for learning disabilities, especially in mathematics which is typical of girls with TS, and was also diagnosed with attention-deficit/hyperactivity disorder. Last audiogram at age 20, revealed mild left ear hearing loss at 4-8 kHz and mild right ear conductive hearing loss from 250-8 kHz. The proband can do most of her daily life activities without any help.
Verbal informed consent was obtained from the patient and the family.
She had documented primary ovarian failure at age 14 with elevated gonadotropins (luteinizing hormone: 18.9 IU/L and follicle-stimulating hormone: 99.8 IU/L) levels. Gradual estrogen replacement therapy with conjugated estrogen was started at that time and she experienced menarche a year later. She then began combined oral contraceptive therapy (OCT), but developed severe mood-related symptoms and extreme distress from breakthrough bleeding that required treatment with multiple mood stabilizing medications (Prozac, Zyprexa, Lithium, Seroquel). The progesterone in her OCT was felt to be the primary trigger for this exacerbation in her mood symptoms. Thus, she elected to undergo a hysterectomy with bilateral salpingo-oophorectomy (BSO) at age 18 in order to resume estrogen-only therapy. Following hysterectomy/BSO, the patient was continued on estrogen-only replacement with improvement of mood disturbance. The pathology showed a diminutive uterus weighing 33 grammes. The bilateral adnexa had fallopian tubes and fibrous streak gonads. In addition, the right-side streak gonad () was accompanied microscopically by ovarian-like stroma, dysgenetic testicular-like structures and an apparent vas deferens. The right gonad showed the presence of a fibroepithelial structure with the features of an epididymis () and a second nodule composed of Sertoli-like tubules with an adjacent focus of Leydig cells (). Inhibin immunostain confirmed the presence of Leydig cells (). The patient had never had any physical examination findings suggestive of virilization.
Since the patient presented with atypical features of TS, including HPT, an unusual growth pattern, behavioral abnormalities and the presence of gonadal dysgenesis with Sertoli-only tubules, endocrinology recommended that the genetics team become involved. Thus both a chromosomal microarray analysis (CMA) of the proband’s peripheral blood and a fluorescence in-situ hybridization (FISH) analysis of the peripheral blood and of the testis-like structures in the streak gonad tissue were performed. The Affymetrix CytoScan HD (www.affymetrix.com) was utilized to interrogate the genomic DNA for copy number variants (CNVs) and regions of homozygosity (ROH). The array was designed with 2.6 million copy number markers, including 1.9 million non-polymorphic probes, selected for their linear response to copy number and genomic position. The average intragenic marker spacing is equivalent to 1 probe per 880 base pairs. A genomic imbalance is reported when deletions are greater than 200 kb and duplications are greater than 500 kb, unless they represent a region clearly associated with benign copy number polymorphism in multiple independent studies. ROH are reported when they are greater than 10 Mb. The genomic linear positions are given relative to GRCh37/hg19 (UCSC Genome Browser) (). Copy number analysis was done using the Affymetrix Chromosome Analysis Suite (version 3.0.0.42 r8004). The CMA of the proband revealed two CNV: a loss of the entire chromosome X (~155 Mb) indicative of monosomy X and a 4.69 Mb copy number loss on 1q31.2q31.3 (bp 192,715,814 to 197,401,180) ().
Interphase and metaphase FISH analyses on peripheral blood lymphocytes, obtained from the patient and her parents, were performed using standard cytogenetic methods, to confirm the 1q deletion in the proband, which was also found to be maternally inherited. The RP11-78E12 BAC clone and CEP 1 FISH probes (Empire Genomics LLC, Williamsburg NY) were used to detect the 1q deletion and centromere 1 (control) regions, respectively.
Interphase SRY/Y FISH was also performed on paraffin-embedded tissue obtained from the testicular-like structures in the dysgenic right gonad with locus-specific Vysis commercial FISH probes localizing to centromere X (CEPX; DXZ1; Xp11.1-q11.1 Alpha satellite DNA; Spectrum Green) and sex-determining region Y (SRY; Yp11.31-p11.32; Spectrum Aqua) and Yq12 Satellite III DNA locus (DYZ1; Spectrum Orange (Abbott Molecular, Des Plaines, IL). The testicular-like structures showed a single X signal pattern. None of the nuclei showed the presence of SRY or Yq-specific signals such as DYZ1. The tubular structures were weakly positive for WT-1, but SALL4 was non-reactive indicating an absence of germ cells in the tubules (not shown). |
pmc-6398194-1 | A previously healthy 10 year-old female patient presented with complaints of pain and swelling in her left elbow. Due to the limitation of movement of the elbow, surgery was performed in another medical center at the age of eight years. Excisional biopsy revealed well-circumscribed subcutaneous tissue including widespread dystrophic calcification and multinuclear giant cells. She was referred to us upon recurrence of bilateral calcinosis in her elbows and in her right upper thigh.
The patient was the offspring of a first-degree cousin marriage. Her past medical history revealed no myositis, skin lesions or renal disease. Physical examination revealed calcinous masses of approximately 3 cm-6 cm diameters in the left elbow, the right elbow and in the right upper thigh (). The masses were warm, hard and tender. Laboratory results showed marked hyperphosphatemia, normal serum creatinine, 25-hydroxyvitamin D and parathormone levels and an elevated ratio of tubular maximum reabsorption of phosphorus/glomerular filtration rate (TmP/GFR), consistent with HFTC (). Direct radiographs demonstrated radio-opaque soft tissue masses around the elbows bilaterally and right upper femur diaphysis (). Bone mineral density Z-score was 0.7. Dental and ophthalmological examination showed no involvement. Milimetric calcified plaques were present inside the right lower eyelid. A novel homozygote P85Rfs*6 (c.254_255delCT) mutation in exon 1 of the GALNT3 gene was detected by next generation sequencing (NGS). In silico analyses was performed with Mutation Taster, which confirmed that the mutation led to frameshift and a premature stop codon. Both parents were heterozygous carriers for the same mutation. |
pmc-6398194-2 | This nine year-old female patient was simultaneously referred to our department with her older sister, Case 1. She had developed similar but milder complaints over the preceding two years, including swelling of the left elbow which required surgery due to joint contracture and bilateral recurrence in her elbows thereafter. Direct radiographs demonstrated radio-opaque soft tissue masses around both elbows (). Dental and ophthalmological examination showed no involvement. Hyperphosphatemia, elevated TmP/GFR ratio, family history, biopsy result and presence of the same homozygote P85Rfs*6 (c.254_255delCT) mutation in GALNT3 gene confirmed the diagnosis of HFTC.
shows the pedigree and NGS results of our patients.
A written informed consent for this report was obtained from the parents of the patients. |
pmc-6398219-1 | A previously healthy 15-year-old rural adolescent male presented with the symptoms of weight loss and fatigue since 2 months. The patient reported occasional discomfort in the right upper quadrant of the abdomen, a daily nocturnal low-grade fever (37.5–38.5 °C), and a weight loss of 3.5 kg, but there was no jaundice. Physical examination yielded normal development. The patient had no tenderness or deep tenderness in the abdomen. The patient had no other typical symptoms that could point towards a specific diagnosis. There was no history of infectious diseases such as hepatitis or tuberculosis; and there was no family history of liver cancer. Enhanced computed tomography (CT) and MRI imaging revealed space-occupying lesions in the hepatic hilum (3.0*2.7 cm). Some of the lesions yielded mixed results; there was an un-enhanced, central, low-density lesion that had an enhancing peripheral rim (Fig. ). The chest CT showed blurred nodules scattered in both lungs,the radiologist and the respiratory physician could not make a definite diagnosis it as tuberculosis. Most of the blood test results, including routine blood examination, tumor markers (AFP [0.605], CEA [0.863], CA19–9 [3.72]), thyroid hormones, liver function, and renal function were within normal limits; only the c-reactive protein level was elevated (9.08 mg/L). In addition, the results of the TPPA, HIV, TBAb, and T-spot tests were negative.
Based on these results, we suspected a potential diagnosis of Klatskin tumor. Exploratory laparotomy was therefore performed; diffuse small lesions were detected in the hepatic portal circulation, from the hepatic hilum to the middle of the common bile duct and surrounding the hepatoduodenal ligament. However,grass green asciteswas not observed. We resected the occupied, mixed lesions in the hepatic hilum. Histopathological examination revealed a granuloma consisting of epithelioid cells, caseous necrosis, and lymphocyte infiltration, indicating caseating granulomatous inflammation (Fig. ). Based on these findings, the final diagnosis was extrapulmonary tuberculosis. Therefore, systemic anti-tuberculosis treatment was initiated following surgery and administered for a total of 6 months. The patient became symptom-free after two months of intensive anti-tuberculosis treatment. |
pmc-6398221-1 | A 43-year-old Asian man presented to the emergency department in our institution due to generalized weakness in April 2018. One month prior to admission, his family noted that he showed poor oral intake and consistently complained of epigastric discomfort. He was diagnosed as having impaired fasting glucose and hyperlipidemia at the age of 42 on routine medical checkup. Eight months ago, he underwent total thyroidectomy with both central and sentinel lymph node dissection due to papillary thyroid carcinoma and the pathologic stage was diagnosed as T3N1bM0 on the permanent pathologic report. After that, the first radioactive iodine (RAI) therapy was conducted and an iodine [–] whole body scan was planned to determine whether to perform the second RAI that was on the next day of visiting the emergency room, therefore, he had to stop the thyroid medication for 3 weeks to prepare for the examination.
At the time of admission to the emergency room, he was noted to be somnolent and had a decreased level of consciousness. He opened eyes to pain, showed inappropriate verbal response and flexion withdrawal from pain, which suggested that Glasgow Coma Scale (GCS) was 10 out of 15. On physical examination, there was no pretibial edema and his pupils were equal in size and normally reactive to light. His abdomen was slightly distended with decreased bowel sound and his extremities were cold. His blood pressure was 127/96 mmHg, heart rate was 101 beats per a minute, and respiratory rate was 25 breaths per a minute with oxygen saturation 97% on room air. He was in a hypothermic state and his tympanic temperature was approximately 34.0 °C. Chest radiography revealed the findings of gastroparesis and paralytic ileus as presented in Fig. . An electrocardiogram at presentation showed sinus tachycardia with QT prolongation by 537 ms of corrected QT interval (Fig. ).
Arterial blood gas analysis revealed a state of metabolic acidosis: a pH of 7.00, partial pressure of carbon dioxide in arterial blood (PaCO2) of less than 10 mmHg, bicarbonate (HCO3) of less than 10 mmol/L, and base excess of − 34.6. Laboratory findings suggested hyperglycemia with glycosuria and ketoacidosis, which are presented in Table . Considering the history of total thyroidectomy and planned schedule for RAI, a thyroid function test (TFT) was conducted and revealed severe hypothyroidism. He was found to have a thyroid-stimulating hormone (TSH) of 34.126 uIU/mL (0.55–4.78 uIU/mL) and free thyroxine (T4) of less than 0.01 ng/dL (0.82–1.76 ng/dL) and triiodothyronine (T3) of less than 0.01 ng/mL (0.6–1.81 ng/mL). Even though he did not have any history of diabetes mellitus, we checked his glycated hemoglobin (HbA1c) due to hyperglycemia. Finally, the value of HbA1c was 16.5% which met the criteria for a diagnosis of diabetes.
He was admitted to the intensive care unit (ICU) for the management of DKA and myxedema coma. He received intravenously administered fluid with electrolytes and an immediately applied insulin pump. For hormonal replacement, liothyronine 5 mcg two times per day and levothyroxine 175 mcg once daily were administered via a nasogastric tube. He instantly responded to the therapy with a favorable clinical improvement. His mental status started to improve several hours after treatment and at the third day of hospitalization he showed a GCS of 15/15; his body temperature increased from 34 °C to 36.5 °C approximately 10 hours after admission. The metabolic acidosis was corrected 6 hours after administration of intravenously administered fluid with insulin pump and hyperglycemia was also improved; the insulin pump was discontinued then and switched to subcutaneous insulin 1 day after hospitalization. Repeated TFT before discharge revealed TSH of 21.798 uIU/mL (0.55–4.78 uIU/mL), free T4 of 1.02 ng/dL (0.82–1.76 ng/dL), and T3 of 1.04 ng/dL (0.6–1.81 ng/mL). The clinical course of this patient was summarized in Table . During the hospitalization, a workup for diabetes mellitus was performed and there was no evidence of pancreas mass or pancreatitis on abdominal computed tomography (Fig. ). Results from investigations for diabetes mellitus showed a fasting c-peptide of 1.08 ng/mL (0.48–3.30 ng/mL), anti-islet cell antibodies (ab) negative, and glutamic acid decarboxylase (GAD) ab of 0.01 U/ml which suggested that a diagnosis of type 2 diabetes mellitus would be appropriate.
He was discharged from surgical ICU after 2 days, stayed for a further 8 days on the general ward and was discharged on the 11th hospital day with tolerable status. The dose of thyroid hormone medications was subsequently reduced at our out-patient clinic after he was discharged and an endocrinologist recommend insulin with orally administered hypoglycemic agents. |
pmc-6398224-1 | A 64 year-old male smoker was referred to our Department for the management of metastatic squamous cell carcinoma with central airway obstruction and recurrent pulmonary infections. Immunohistochemistry showed strong positive expression of PD-L1 (> 50% of tumor cells) with no EGFR or ALK genomic tumor aberrations. The patient suffered from recurrent episodes of pneumonia related to the atelectasis of right lung (Fig. ), and exhibited severe acute respiratory distress, and poor performance status (ECOG 3). Chest CT scan performed at the admission showed a severe stricture of the right main bronchus (Fig. a) with atelectasis of the middle lobe and pneumonia of right lower lobe (Fig. b). Though Pembrolizumab was indicated as first therapeutic option, this strategy was unfeasible due to the recurrent episodes of obstructive pneumonia of right lung. Thus, after multimodal assessment the patient was scheduled for endoscopic recanalization of right main bronchus before starting ICI treatment.
The procedure was performed under general anaesthesia; the patient was intubated with a 8,5 mm rigid bronchoscope (Stortz, Tuttlingen, Germany); the right main bronchus was completely obstructed by tumor at the level of the carina (Fig. a). Mechanical coring with rigid bronchoscopy, debulking with forceps, and control of bleeding with Nd:YAP laser (LokkiLis Laser-Bryan Corporation, Woburn, Mass) were used to resect the tumor and to obtain the complete recanalization of the right main bronchus and of the middle and lower bronchus (Fig. b). A fully covered SEMS (Tracheobronxane Silmet; Novatech SA; France, size:14 mm diameter; 40 mm length) was then inserted into the right main bronchus (Fig. c) to maintain airway patency (Fig. d). The day after the procedure the dyspnea disappeared, and patient was discharged three days later. In the following two weeks, patient did not show clinical signs of pneumonia and presented an improvement of performance status (ECOG 1); chest CT scan (Fig. c) confirmed the complete resolution of atelectasis and pneumonia. Therefore, he was eligible to receive Pembrolizumab 200 mg e.v. every 21 day. At 16 weeks follow-up, the patient was still alive and no further lung infections were recorded; chest CT scan (Fig. ) showed a local reduction of tumor size without sign of lung infection. |
pmc-6398997-1 | A 74-year-old postmenopausal female presented to dermatology outpatient clinic with the complaint of a mass on dorsum of the left foot and a mass on the middle part of the medial surface of the left lower extremity for a month. A tru-cut biopsy was obtained from malignant necrotic ecchymosis under antibiotic prophylaxis. Magnetic resonance imaging (MRI) of the pelvic and MRI of the lower extremity were performed. The results showed a mass obliterating the endometrium and a pathologic lymphadenopathy, measuring 30 × 15 mm, on the left inguinal region. Vaginal ultrasound was performed and adnexal atrophy and cysts in uterus were detected. Dilatation and curettage was performed on endometrium and patient was diagnosed with high-grade cancer. MRI of the lower extremity showed a heterogeneous mass, which is measuring 56 × 40 mm and is infiltrating proximal parts of third and fourth metatarsal bones and muscle and fat tissue on dorsal part of left foot. Positron emission tomography–computed tomography (PET-CT) was performed for stating. The results demonstrated a lesion, measuring 10.5 × 6.5 × 5.5 cm, extending from skin to extensor muscles and infiltrating proximal fourth and fifth phalanges in intermetatarsal spaces on plantar surface of the foot (SUVmax: 13.6). A primary lesion, measuring 25 mm in diameter, that is extending from medial calcaneus to subcutaneous tissue on proximal and one-third part of the middle part of left lower extremity (SUVmax: 26.5) and a second primary mass, measuring 45 × 28 mm, that is filling corpus of the uterus (SUVmax: 45.8) are noted. A metastatic lymph node, measuring 2 cm in diameter, is noted (SUVmax: 9.1) (
and
). The results of the biopsy were evaluated and patient was diagnosed with high-grade DLBCL. The both tumors histopathological features were similar. This was in accordance with germinal centered high-grade non-Burkitt DLBCL. DLBCL-leg was diagnosed when MUM1 (+), CD20 (+), CD3 (−), CD5 (−), CD38 focal (+), CD79a (+), c-myc 20 to 30% (+), bcl-2 (+), bcl-6 (+), and CD10 (−) were evaluated with clinical findings (
–
).The uterine tumor was diagnosed as stage IEA DLBCL according to the Lugano modification of Ann Arbor classification, the other tumor was diagnosed as T2aN1M0 according to WHO-EORTC classification and R-CHOP chemotherapy was initiated. After three courses of R-CHOP, PET-CT was performed. The scan showed almost complete regression in mass in uterus; complete regression in lesion on dorsum of the left foot and partial regression in anterior lesion of left lower extremity. After six courses of chemotherapy, PET-CT was performed and it demonstrated a residual mass extending to subcutaneous tissue and muscles of dorsum of left foot (SUVmax: 2.0) (
). A skin biopsy was performed. The results showed no cutaneous lymphoma, but atrophy of the dermis was detected. No residual mass was noted histopathologically; therefore, salvage RT was not planned. |
pmc-6399187-1 | A 37-year-old Burmese male was referred by his dermatologist for a RT opinion in June 2011 with left-sided facial swelling of approximately 2 year's duration and associated local and upper body itch. His past medical history was unremarkable except for well-controlled chronic Hepatitis B, managed with entecavir 0.5 mg daily. Serum eosinophil count (a marker of inflammatory/allergic response) was 2.6 × 109/L (0.02–0.50). Fine needle aspiration cytology and subsequent skin punch biopsy in early 2010 had shown prominent eosinophil infiltrates including eosinophil micro-abscess formation in association with lymphoid tissue, lymphoid follicles, proliferating post-capillary venules and variable fibrosis. Plasma cells were present, although not dominant, and there was no storiform-patterned fibrosis or phlebitis. Some vessels had hyaline thickened walls. No malignant transformation, granulomatous component, tissue parasites or significant neutrophil presence was identified (Fig. ). The lesion site, depth of inflammatory changes with lymphoid follicles and frequent eosinophils, peripheral eosinophilia and Asian background were all consistent with the diagnosis of Kimura's disease (see below).
Examination revealed a firm soft tissue mass in the left pre- and post-auricular region (Fig. ). It measured 90 × 60 mm radially, 10 mm proud and the overlying skin was thickened, although not fixed to underlying structures.
CT scan of the head demonstrated diffuse infiltration of the left peri-auricular skin, subcutaneous soft tissues and parotid of maximum dimensions 90 × 90 × 35 mm but no other masses or lymphadenopathy (Fig. ).
His initial treatment had included doxycycline with little effect, then oral prednisolone, but this was poorly tolerated and the mass recurred on weaning. After discussing alternative options, the patient consented to RT. His head and shoulders were immobilised with a thermoplastic mask for planning CT, his ear was packed with wet gauze, and the whole region was covered with 10 mm bolus. The planning target volume was defined by a 2-cm margin on palpable and radiological disease and he received 30 Gy in 15 fractions daily over 3 weeks using a direct 16-MeV electron field.
The treatment course was uncomplicated. By 3 months, the mass had progressively shrunk to 25 × 15 mm, 3 mm proud (Fig. ). However, from 1 year after RT, he again required intermittent courses of prednisolone for recurrent mild left parotid swelling (much less than prior to treatment) with associated itch. From 3½ years after RT, right parotid swelling became the dominant problem, with bilateral parotid biopsies in August 2016 confirming active disease on both sides consistent with the original diagnosis (independently via a second pathologist). Repeat CT head/neck/chest/abdomen at that time (and previously in 2013), showed involvement of the parotid regions only. During follow-up, he also had opinions from medical oncology, haematology, ENT and immunology specialists. Immunosuppressants were considered, but relatively contraindicated because of his history of Hepatitis B.
In May 2017, his immunologist raised the possibility of IgG4-RD as an alternative diagnosis. Further immunostaining of the 2016 specimens revealed an IgG4/IgG ratio of 59%, with up to 109 IgG4 labelled plasma cells per high power field, thereby satisfying the criteria for ‘highly suggestive’ of salivary IgG4-RD, namely >40% and >100%, respectively. The serum IgG4 was also mildly elevated at 1.04 g/L (0.12–0.96).
At review by his immunologist 6 years after RT, his facial appearance was essentially a mirror image of the original presentation, with prominence of the right, but not the treated left parotid and there was a suspicious new skin lesion on the abdomen. Accordingly, the decision was finally taken (reluctantly) by his immunologist to commence cyclosporine 100 mg BD, in order to minimise the need for further courses of steroids. This led to rapid response of all disease sites. RT remains an option for the right parotid region (or elsewhere) if needed in the future. |
pmc-6399193-1 | A 50-year-old Aboriginal male smoker from a remote community in Northern Australia presented with a 6-month history of weight loss and anaemia. Subsequent investigation revealed a 62 × 111 × 72 mm stage IV right upper lobe non-small cell lung adenocarcinoma (epidermal growth factor receptor, anaplastic lymphoma kinase, kirsten rat sarcoma viral oncogene mutation wild-type) with supraclavicular nodal and splenic metastases (T3N3M1b). Other medical history included latent tuberculosis for which he was taking isoniazid 250 mg daily and pyridoxine 25 mg daily, chronic kidney disease, emphysema managed with salbutamol inhaler as needed and hypertension treated with ramipril 1.25 mg daily.
He relocated to a tertiary medical facility to undergo palliative chemoradiotherapy. He completed 2 weeks of radiotherapy with four beams at 20–30 Gy in 10 fractions with 3D conformal technique to the primary tumour, with planning target volume covered by 95% of the isodose line. The ipsilateral breast including pectoralis major received dose ranging from 15 to 30 Gy (Fig. ). One month later, he commenced three weekly cycles of palliative chemotherapy with gemcitabine and carboplatin. One week after his fourth cycle he presented to the local emergency department with increasing pain and swelling to the right breast (Fig. ). He had participated in heavy lifting 2 weeks prior and recalled bilateral aching to his arms following the activity. He had not commenced any other medications and did not drink alcohol.
The patient was haemodynamically stable and afebrile. Marked right breast asymmetry was noted with a firm, immobile, tender, warm right breast swelling. There were no overlying skin changes. Laboratory results revealed an acute kidney injury with creatinine level 123 μmol/L (60–110) and egfr 52 mL/min/1.72m2 (baseline 65–70) along with an elevated creatine kinase at 374 IU/L (40–200). White cell count was normal, though C-reactive peptide was elevated at 94 mg/L (<5). Haemoglobin was 93 g/L unchanged from previous (130–180). Anti-signal recognition antibodies were positive. Transcription intermediary factor 1-gamma antibodies were negative. Incision and exploration of the swelling showed diffuse muscular hypertrophy with no evidence of abscess or haematoma. Subsequent biopsy confirmed acute non-specific myositis (Fig. ). Microscopy and culture were negative. The patient gave permission for the case report to be published. |
pmc-6399367-1 | An 80-year-old man was referred to our hospital for syncope caused by severe AS. Twelve years previously, he had undergone CABG that comprised bypass grafting of the left internal thoracic artery (LITA) to the left anterior descending coronary artery (LAD) and of the saphenous vein from the ascending aorta to circumflex branch. He had also undergone pericardiectomy for constrictive pericarditis 10 years prior to the surgery. Unfortunately, the details of the surgical procedure and findings were unknown because the surgery for pericarditis was performed at another hospital. Preoperative computed tomography indicated that the pericardium around the aorta and right-sided left atrial area were almost intact. However, severe adhesion appeared to be present from the anterior to diaphragmatic aspects of the heart. Echocardiography showed severe progressive AS with moderate aortic regurgitation. Other examination data were as follows: aortic valve area of 0.6 cm2, mean trans-aortic valvular pressure gradient of 86 mmHg, bicuspid aortic valve, and left ventricular ejection fraction of 70%. Although the patency of the LITA–LAD graft was confirmed, computed tomography and coronary arteriography showed that the saphenous vein graft was occluded. We discussed the treatment strategy (TAVR or AVR) in a “heart team.” The heart team considered TAVR not to be suitable for his deformed bicuspid aortic valve. We decided to use a right parasternal minimally invasive approach, which is optimal for performing AVR to avoid median sternotomy-related injury, especially to the patent LITA–LAD graft.
A 7-cm right parasternal incision extending from the inferior edge of the second costal cartilage to the superior edge of the fourth costal cartilage was made (Fig. a). Both the third and fourth costal cartilages were totally excised following exposure of the second and third intercostal spaces by division of the pectoralis major muscle. The right ITA was ligated immediately inferior to the second costal cartilage and immediately superior to the fifth costal cartilage. The intercostal muscles and pleura were incised. The pericardium around the aorta was intact as estimated by computed tomography, and the adhesion around the aorta was less severe than predicted preoperatively. Pericardial stay sutures were placed, providing excellent exposure of the ascending aorta. Next, the ascending aorta was exposed and controlled (Fig. b). Cardiopulmonary bypass (CPB) using the femoral artery and vein was initiated. A left ventricular vent cannula was placed in the right superior pulmonary vein, and then the patient was cooled to 28 °C. Because of severe adhesion around the right atrium, a retrograde catheter could not be inserted. We only injected antegrade cardioplegia solution after the ascending aorta was cross-clamped. Once cardioplegic arrest was obtained, ventricular fibrillation developed. Therefore, we administered 40 meq/L potassium via the CPB to maintain a blood potassium concentration of 8 meq/L. Antegrade cold blood cardioplegia was induced intermittently every 20 min. A 19-mm Mosaic pericardial bioprosthesis (Medtronic, Minneapolis, MN, USA) was implanted (Fig. c). After the patient had been placed in the Trendelenburg position, the aorta was unclamped and de-airing was accomplished through suction on the cardioplegia aortic root needle with flooding of CO2 gas in the operative field. The aortic cross-clamping time was 83 min. A ventricular pacemaker wire was placed in the right ventricle while the CPB was running, and the heart was decompressed. The patient was smoothly separated from CPB. The operation time and CPB time were 348 and 158 min, respectively. Immediately after surgery, the absence of ischemic damage to the myocardium was confirmed based on the serum creatine kinase MB concentration and electrocardiography findings. Echocardiography also showed normal movement of the left ventricle. The postoperative course was uneventful, and the patient was discharged on postoperative day 7. |
pmc-6399394-1 | An 8 year-old Ukrainian female, sister of case 2, was referred to our Emergency Department for fever, vomit, and abdominal pain while she was in Italy together with her parents, who were assisting her sister for allogeneic HSCT. The patient was born after a full-term gestation, from non-consanguineous parents, the birth weight being 3,000 grams. The patient first presented chronic nail candidiasis when she was 2 year old, followed by oral candidiasis at 3. At the age of 5, she developed seizures that were treated with anticonvulsant therapy (levetiracetam and lamotrigine). When she was 6 years old, primary adrenal failure was diagnosed and hydrocortisone replacement therapy was started. Growth retardation was reported from the age of 6. Physical examination when the child came to our attention: weight 16.7 Kg (<3°p), height 115 cm (−2 DS), painful abdomen, and oral-nail candidiasis (). Blood exams showed a slight increase of white blood cells (WBC) and inflammatory indices [WBC 17.320/mm3, polymorphonuclear cells (PMN) 14.350/mm3, C-reactive protein (CRP) 29 mg/dL] associated with severe hyponatremia and hypocalcemia (Na 112 mmol/L, Ca 1.64 mmol/L). Parathormon (PTH) resulted <0.26 pmol/L (nv 1.00–8.00). Hydrocortisone and fludrocortisone were administered intravenously at first and a slow intravenous correction of electrolytes was started. The association of chronic mucocutaneous candidiasis, adrenal insufficiency and hypoparathyroidism led to the diagnosis of APS-1 which was confirmed by AIRE mutation: homozygous mutation in exon 6: c.769C>T (p.Arg257*). An extended diagnostic assessment was performed to rule out any possible associated manifestation. Eye examination revealed bilateral autoimmune keratitis and dental evaluation showed enamel hypoplasia (amelogenesis imperfecta) (). The reported seizures were most likely secondary to hyponatremia and hypocalcemia. For this reason, an electroencephalography (EEG) was performed, showing no abnormalities. Hydrocortisone was adapted to sodium levels. Treatment also included supplementation with calcitriol and calcium for hypoparathyroidism and antimycotic therapy with fluconazole for chronic mucocutaneous candidiasis. Currently the child is in good clinical condition with normal blood tests. |
pmc-6399526-1 | A 62-year-old male with known peripheral arterial disease had undergone previous right to left femorofemoral bypass for claudication with a ringed PTFE graft () as well as subsequent thrombectomy of the fem-fem bypass, balloon angioplasty of the distal anastomosis, and stenting of the superficial femoral artery in March 2017 due to occlusion of the graft. Thirteen months later, the patient was presented with two-day history of fever, malaise, purulent drainage from previous thrombectomy incision, and new rest pain of the left lower extremity. Admission bloodwork did not demonstrate a leukocytosis or left shift. CT abdomen and pelvis demonstrated fluid surrounding the femorofemoral bypass graft (). The bypass graft was occluded likely secondary to graft infection. Blood cultures demonstrated gram-positive bacteremia with associated fevers, and IV vancomycin was started. Transesophageal echocardiogram was performed which ruled out endocarditis. Due to previous graft thrombosis a year prior, the patient had been placed on oral anticoagulation which was held in preparation for surgery. The patient was taken to the operating room for left lower extremity revascularization and explantation of the infected femorofemoral bypass PTFE graft. Via a retroperitoneal approach, a left common iliac artery to above knee popliteal transobturator bypass was created with a 6 mm bovine carotid graft. The patient's postoperative course was uneventful. Preoperative rest pain was resolved with biphasic doppler signal distally of the posterior tibial and dorsalis pedis. Due to some difficulty with mobility, the patient was discharged to a rehabilitation facility. The patient was prescribed antiplatelet medication and a 4-week course of IV antibiotics via PICC for the staph aureus bacteremia. The patient was followed up outpatient following discharge with a repeat CT angiography of abdomen with bilateral lower extremity runoff at 2 months that demonstrated a widely patent transobturator bypass without evidence of stenosis or occlusion (Figures and ). |
pmc-6399537-1 | A 77-year-old man with hypertension, hyperlipidemia, and prior infrarenal aortic aneurysm repair presented with several months of worsening lower abdominal pain and a weight loss of 20 pounds (9 kilograms). The endovascular repair of his aortic aneurysm occurred two years prior and was prompted by expansion to 4.4 cm in diameter. He denied any fever or chills. He lived in the rural southeastern United States (Georgia), where he hunted deer and had exposure to livestock on a nearby farm. On exam, he was cachectic and had a temperature of 100.4°F (38°C). Abdominal exam showed tenderness to deep palpation in the epigastrium and bilateral lower quadrants. His white blood cell count was normal at 8.0 × 109/L (reference 4–11 × 109/L), hemoglobin 11.3 g/dL (reference 11.4–14.4 g/dL), and platelet count of 345 × 109/L (reference 150–400 × 109/L). Serum sodium, renal function, and aminotransferases were normal. The erythrocyte sedimentation rate and C-reactive protein were elevated at 100 mm/hr (reference 0–20 mm/hr) and 111.8 mg/dL (reference 0–7.5 mg/dL), respectively. A chest radiograph was unremarkable, and computed tomography (CT) scan of his abdomen and pelvis detected large (up to 2.6 cm × 2 cm) necrotic periaortic lymph nodes with normal appearance of the liver. CT-guided retroperitoneal lymph node biopsies were performed, and pathology was negative for malignancy but noted chronic inflammation and non-necrotizing granulomas. Lymph node aerobic and anaerobic Gram stain and cultures, acid fast bacillus (AFB) smear and culture, and fungal stain and cultures were negative. Aerobic and anaerobic blood cultures, AFB blood smear and culture, serum cryptococcal antigen, HIV antigen/antibody, purified protein derivative for tuberculosis exposure, and rapid plasma reagin (RPR) for syphilis were all negative. Positron emission tomography (PET) CT imaging was pursued for further evaluation of the intra-abdominal lymphadenopathy and revealed increased radiotracer activity and soft tissue stranding at the bifurcation of the aortoiliac stent, indicative of increased metabolic activity ().
Prior to hospital discharge, the patient's Coxiella burnetii titers were pending as well as the psoas fluid aspirate polymerase chain reaction (PCR) and culture. The psoas fluid aspirate was sent to the Centers for Disease Control and Prevention given negative infectious workup until this point. After discharge, his Coxiella burnetii (Q fever) titers resulted as follows: IgM Phase I: 1 : 64, IgG Phase I: 1 : 131,072, IgM Phase II: 1 : 16, IgG Phase II: 1 : 65,536. Polymerase chain reaction (PCR) testing of the psoas fluid aspirate was pursued, and aspirate PCR and cultures were positive for Coxiella burnetii. During outpatient infectious diseases management, the patient was started on therapy with hydroxychloroquine and doxycycline. Despite therapy, he had progressive decline in his functional and nutritional status, which limited monitoring of titers and drug levels. On a subsequent admission two months later, he was noted to have developed psoas abscesses bilaterally (left 1.9 × 1.8 × 4 cm and right 1.9 × 2.5 × 6 cm) () with aortitis of the posterior aspect of the aorta at the level of L2 and osteomyelitis of L2 and L3 vertebral bodies (). The patient declined despite therapy with doxycycline and hydroxychloroquine and fluoroscopy-guided drainage (with drain placement) of the psoas abscesses. The patient was deemed high-risk given need for revision of aneurysm repair, progression to bedbound status, failure to thrive, and poor nutritional status. After discussions with the patient, family, and the medical and surgical teams, it was decided to forego potential surgical interventions, such as removal of the infected graft, due to the high risk of intraoperative mortality. The patient and his family elected hospice care. He died at home five months after the diagnosis of chronic Q fever and four years after his abdominal pain began. The exact timing of his exposure to C. burnetii is uncertain, but he did recall that several years prior to the onset of symptoms, he assisted his neighbor with the difficult birth of a calf. |
pmc-6399541-1 | A 28-year-old male patient with psoriasis presented to our facility with two-month history of lower urinary symptoms and increased bowel movements. Physical examination and laboratory studies were unremarkable. Suprapubic ultrasonography done outside our hospital showed an enlarged prostate measuring 72mm x 76mm x 67mm and 194 cm3 in volume. Pelvic Magnetic Resonance Imaging (MRI) showed a large mass confined to the pelvis measuring 7.2 cm in the largest diameter with predominance of cystic component without evidence of fatty content, calcification, fluid-fluid level, or suspicious enhancing nodular soft tissue thickening.
The mass was seen in the perirectal space, displacing and exerting mass effect on the seminal vesicles, prostate and abutting the bladder without clear connection with the digestive system ().
Patient underwent a surgical resection through a suprapubic midline incision; the mass was approached from the left side after liberating and reflecting the bladder medially. Macroscopically, the mass weighs 157g and measures 7.5 x 5 x 5.5cm. It is covered by a thin membrane and is focally congested (). Cut surface shows a unilocular cystic mass filled with beige brown soft material and hair shafts.
Microscopically, the excised cystic mass is covered with a thin fibrotic wall and lined by mature squamous epithelium with few skin adnexae and hair shafts filled with fibrillary keratin. Pathology was consistent with mature cystic teratoma (). Patient was discharged on the second postoperative day after an uneventful stay. Patient's urinary symptoms were relieved; MRI done at one year postoperatively showed no recurrence of tumor. |
pmc-6399543-1 | A 20-year-old woman who recently emigrated from Mexico with limited prior medical care initially presented to an outside hospital with a facial rash thought to be herpes zoster with bacterial suprainfection. She was begun on a course of cephalexin and valacyclovir. Over the following week, she developed new-onset headache, emesis, and photophobia. After returning to the emergency department, she was found to have altered mental status which deteriorated further following a tonic-clonic seizure. A computed tomography scan of the head was unremarkable. Lumbar puncture demonstrated budding yeast and a cryptococcal antigen titer, performed by latex agglutination, that was greater than 1 : 256. During her hospitalization, she was found to be HIV-positive with a CD4 count of 10 cells/µL, a CD4/CD8 ratio of 7%, and an HIV viral load of 37,479 copies/mL.
The cryptococcal infection was initially treated with intravenous liposomal amphotericin 5 mg/kg daily and oral flucytosine 100 mg four times per day upon transfer. After fourteen days, the dose of liposomal amphotericin B was reduced to 4 mg/kg daily due to the onset of acute renal failure (creatinine 1.15 mg/dL from 0.60 mg/dL on admission). Antiretroviral therapy (ART) for HIV was withheld until completion of treatment of cryptococcal meningitis due to risk for immune reconstitution syndrome.
The patient clinically improved on this regimen, with complete resolution of meningeal symptoms within about one week of starting the antifungal regimen. However, soon afterwards, she developed worsening pancytopenia with prominent thrombocytopenia. Platelets were initially 144 k/µL and dropped to a nadir of 46 k/µL. Her white blood cell count decreased to a nadir of 1.8 k/µL (absolute neutrophil count 1100 cells/µL) from 3.4 k/µL and hemoglobin to a nadir of 6.5 g/dL from 9.3 g/dL. During this time, flucytosine was switched to fluconazole due to concern for precipitating worsening thrombocytopenia. Hematology consultation was obtained, and bone marrow aspirate and biopsy showed silver stain positive for disseminated Cryptococcus neoformans () with findings of focal phagocytosis, mildly hypocellular bone marrow for age (60% cellularity), and otherwise normal hematopoietic maturation with no evidence of malignancy. Additional negative studies of the bone marrow included acid-fast bacilli (AFB) stain and polymerase chain reaction (PCR) for Toxoplasma gondii, Cytomegalovirus (CMV), Parvovirus B19, and Bartonella. Histoplasma was not directly noted on histopathologic analysis of the bone marrow. The patient tested negative for CMV in the bone marrow but was positive for <1000 copies/mL of CMV in the peripheral blood. No treatment for CMV was administered.
Liposomal amphotericin B and fluconazole 800 mg daily were continued for a total of four weeks of induction therapy in the setting of Cryptococcus in the bone marrow and associated pancytopenia. Pancytopenia improved with continuation of this regimen. At the time of discharge to a long-term care facility, her white blood cell count was 2.4 k/µL, hemoglobin was 8.6 g/dL, and platelets had improved to 80 k/µL. The patient was started on abacavir/dolutegravir/lamivudine after two negative lumbar punctures. Given persistently elevated serum Cryptococcus Ag > 1 : 256, the patient was continued on suppressive fluconazole (200 mg daily) therapy for the next two years. |
pmc-6399545-1 | A seventy-three-year-old lady was brought in by ambulance to the emergency department with increasing confusion. She had a history of type 2 diabetes mellitus and hypertension. The patient had become gradually unwell for three weeks prior to admission, complaining of lethargy, myalgia, and a dry cough. On admission to the emergency department, she was confused with a Glasgow coma scale of 14/15. She was pyrexic (40.6°C), tachycardic (104 BPM), and hypertensive (186/82), with a respiratory rate of 26 and oxygen saturations of 93% on room air. Physical examination yielded coarse crepitations in her left lung base. The rest of the examination was otherwise unremarkable. Of note, there was no ear discharge, nor were there any defects in the tympanic membranes. Initial blood results showed a leucocytosis of 14.4 x 109/L, with a neutrophilia (13.3 x 109/L). Her C reactive protein was raised (295 mg/L) and her blood lactate was elevated (4.9 mmol/L) with an acidosis (pH 7.29). Her ECG showed sinus tachycardia. She had left lower zone consolidation on her chest X-ray. Shortly following admission, she rapidly deteriorated, becoming unresponsive and requiring urgent intubation. Intravenous ceftriaxone and acyclovir were administered and an urgent CT brain was performed prior to lumbar puncture.
The CT brain showed opacification of the mastoid air cells as well as the ethmoid and maxillary sinuses in keeping with mastoiditis and sinusitis (). There was pneumocephalus with extra-axial air in the posterior cranial fossa bilaterally (Figures and ) and a focal osseous defect in the posterior wall of the right mastoid air cells causing direct communication with the posterior cranial fossa ().
A lumbar puncture was then performed with gram-positive cocci seen on gram-staining and 3,200 white cells/cmm. CSF culture yielded growth of S. pneumoniae and this was subsequently confirmed with molecular testing for S. pneumoniae DNA and a diagnosis of pneumococcal meningitis was made. She was treated with intravenous antibiotics for a total of two weeks and bilateral tympanostomies were performed for management of her mastoiditis. She subsequently improved and made a full and uneventful recovery. A repeat CT brain at the time of discharge showed resolution of her mastoiditis and pneumocephalus. |
pmc-6399550-1 | A 15-year-old boy with severe neurodevelopmental disabilities developed sudden-onset fever, abdominal distention, and dyspnea and was referred to our hospital 3 hours after symptom onset. He was born at 36 weeks of gestational age by normal spontaneous vaginal delivery with an Apgar score of 8/10 and birth weight of 1836 g. He had multiple malformations and had undergone several surgeries including Ramstedt pyloromyotomy, ventricular septal defect repair, orchidopexy, Nissen fundoplication, and scoliosis correction. Conventional G-banding analysis of his peripheral blood showed a normal karyotype.
He was taking several medications including magnesium oxide, daikenchuto (a Japanese herbal medicine), dimethicone, mosapride, and lansoprazole for gastrointestinal symptom control. Nitrazepam, risperidone, and carbamazepine were prescribed for insomnia and epilepsy. He had severe intellectual impairment and limited activities of daily living. He walked with a body support walker and had difficulty with oral feeding and no verbal communication ability.
On admission, he appeared unwell; his body temperature was 38.7°C, pulse rate was 110/min, and respiratory rate was 24/min. Physical examination revealed no abdominal distension or tenderness. Laboratory examination showed a normal white blood cell count with a slightly increased C-reactive protein level and normal serum levels of bilirubin, ammonia, glucose, and lactate. Serum levels of potassium, sodium, and chloride were 5.2 mEq/L, 134 mEq/L, and 102 mEq/L, respectively. Blood urea nitrogen and serum creatinine were 10 mg/dL and 1.41 mg/dL, respectively. Serum levels of aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase were elevated at 83 U/L, 41 U/L, and 475 U/L, respectively. The platelet count was normal at 34.3 × 104/μL. The plasma fibrinogen level and antithrombin III level were 237 mg/dL and 69.3%, respectively. Prothrombin time expressed as internal normalized ratio (PT-INR) was 1.24, and activated partial thromboplastin time was 33.2 sec. Abdominal computed tomography (CT) without contrast revealed dilated and thinned intestinal loops from the duodenum to the sigmoid colon, without free air or fluid ().
The patient was initially diagnosed as having paralytic ileus secondary to severe constipation. He received nasogastric suction and intravenous fluids, and his dyspnea subsequently resolved. We had discussed further examinations including contrast CT when his condition suddenly worsened to shock presenting with ventricular tachycardia and absent distal pulses, cool extremities, and prolonged capillary refill. After appropriate cardiopulmonary resuscitation, he was transferred to an intensive care unit. The ventricular tachycardia diminished without electrical defibrillation. Isotonic crystalloids, albumin solution, dopamine, and dobutamine were administrated under the diagnosis of hypovolemic shock. Meropenem and intravenous immunoglobulin were also given for a provisional diagnosis of sepsis from bacterial translocation. It is considered that the patient developed disseminated intravascular coagulation (DIC) because of a decreased platelet count of 19.1 × 104/μL, decreased fibrinogen level of 109 mg/dL, decreased antithrombin III level of 41.8%, and prolonged PT-INR and APTT of 1.64 and 51.0 sec, respectively. The D-dimer level was 88.0 μg/mL, and the thrombin-antithrombin complex level was 42.1 μg/L, which were also consistent of DIC. Recombinant human soluble thrombomodulin and antithrombin III were used for DIC; however, these treatments were ineffective. The serum potassium level was 4.4 mEq/L, and other electrolyte levels were within normal limits. The serum amylase level was 351 U/L. We did not perform blood gas analysis that time because of some technical problems. Fifteen hours after admission, emergent laparotomy was performed because colonic obstruction secondary to fecal impaction was suspected. Surgery revealed a segmentally necrotic intestine from the jejunum to ascending colon with unattenuated pulsation of peripheral intestinal arteries (), suggesting a diagnosis of NOMI. The necrotic intestine was resected, and stomas were created. Histopathology of resected intestine showed massive cellular infiltration, which was mainly neutrophilic, and ischemic changes with transmural necrosis (). Arterial or venous thrombus was not identified in the resected specimens, which also supported the diagnosis of NOMI. On postoperative day 3, subserosal hemorrhage of the sutured jejunum occurred, which required surgical resection of the affected section. Extubation was difficult because of aspiration pneumonia; therefore, laryngotracheal separation was performed. He developed short bowel syndrome postoperatively and needed long-term supportive care. He was discharged on postoperative day 334. |
pmc-6399552-1 | A 56-year-old female with acute myeloid leukemia (AML) was admitted for neutropenic fever after presenting with one day of fatigue. She denied other focal infectious symptoms. Four days prior, she was evaluated in the emergency department for left upper back pain, with work-up remarkable for neutropenia without fever and pulmonary artery CT showing a new focus of ground-glass attenuation within the superior segment of the left lower lobe. The back pain was presumed to be musculoskeletal due to reproducibility by palpation, and she was discharged with close follow-up. Past medical history was remarkable for treatment-related AML (due to prior breast cancer chemotherapy) diagnosed four months prior to this presentation. The treatment course was complicated by relapse one week after initial induction and prolonged neutropenia with neutropenic fever following both induction and reinduction. At time of presentation, medications included levofloxacin, sulfamethoxazole/trimethoprim, acyclovir, and voriconazole for prophylaxis.
On admission, she appeared mildly uncomfortable with tachycardia (heart rate 128), fever of 38.8°C, and otherwise normal exam. Lab evaluation showed pancytopenia with a WBC of 100 (no detectable neutrophils), hemoglobin of 8.5 g/dL, platelets of 22,000/mL3. Initial blood and urine cultures were negative. Chest CT showed worsening of previously identified left lower lobe ground-glass opacities, new consolidation of the left upper lobe, and fullness within the left paraspinal region. Vancomycin and meropenem were started for empiric treatment of neutropenic fever; voriconazole and acyclovir were continued. Early the morning after admission, the patient awoke with profound left leg weakness, with exam showing 0/5 strength in the left lower extremity, abnormal temperature sensation on the right side from T6 downwards, and urinary retention concerning for a thoracic spinal cord insult. Urgent MRI of the brain and spine showed patchy, nonenhancing regions of increased cord signal at T5 and T6-7, abnormal epidural enhancement from C6-7 level down to T7, and three distinct foci of acute cerebral ischemia, concerning for a multifocal embolic injury.
Over the following six days, she remained febrile and tachycardic despite further broadening of antibiotics to liposomal amphotericin and ganciclovir. Her neurologic deficits progressed to full paraplegia with bladder and bowel dysfunction. Extensive laboratory evaluation for a causative organism, including numerous blood cultures, remained negative. In an ongoing effort to identify an infectious etiology of the persistent neutropenic fever/pulmonary infection, CT chest/abdomen/pelvis, lumbar puncture, and bronchoscopy with bronchoalveolar lavage were performed. CT chest showed progression of consolidation, multiple, new, bilateral nodular opacities, and a filling defect within the descending aorta, concerning for development of an intraluminal thrombus. CT abdomen/pelvis also showed multiple, new hypodense lesions throughout the liver and spleen, concerning for developing abscesses. At this point, the aortic filling defect was felt to be the originating source of the likely septic embolic lesions identified throughout the brain, spine, chest, and abdomen. Due to the occurrence of the suspected septic embolic events while on broad-spectrum antibacterial and antifungal antibiotics, a PET/CT was pursued with a goal of better elucidating whether the aortic thrombus was infectious. The PET/CT showed hypometabolic activity within the spinal cord from T3 through T6, representing infarct, and a large (6.3 × 6.4 × 5.3 cm), ring-like area of FDG avidity involving the apical posterior left upper lobe and adjacent thoracic spine, with central, marked decreased avidity of included pulmonary parenchyma, thoracic vertebral bodies, spinal cord, and posterior chest wall ().
Although definitive microbiologic diagnosis had not been made, the multifocal septic emboli and a large abscess were felt to be consistent with either an invasive fungal infection or Nocardiosis. After discussion of the PET/CT findings with the patient and her family, specifically the low likelihood of return of neurologic function and inability to do allogeneic hematopoietic cell transplant in a patient with such an infection, they chose to transition to home hospice care. Six days after discharge, results from broad-range fungal PCR performed on the bronchiolar lavage fluid sent to an outside institution detected Rhizomucor pusillus DNA. |
pmc-6399758-1 | A 63-year-old man with idiopathic pulmonary fibrosis was admitted to our hospital to undergo left lung transplant. Recipient anatomy was normal; donor anatomy similarly showed no abnormalities on preoperative chest radiographs and CT images; and bronchoscopic findings at procurement were reported normal. We confirmed the decision to proceed with lung transplant. The patient was intubated, placed in the right lateral decubitus position, and prepared for left lung transplant. Upon receiving the donor lung, we immediately recognized the three lobes of the left lung (). Our immediate concern was that our team had mistakenly received the wrong organ (right lung) during packing and transportation. However, the hilar anatomy and anatomical relationships between the pulmonary arteries, pulmonary vein cuff, and bronchus were consistent with the left lung. We decided to proceed, and the presence of this anatomical variation did not change our surgical plan or technique. Left single-lung transplant was performed without cardiopulmonary bypass, and the procedure was successful and well tolerated. Post-transplant bronchoscopy showed a three-lobed bronchus (), and CT showed three demarcated lobes (). The patient recovered without complications, and his postoperative course was uneventful. He was discharged on postoperative day 10. |
pmc-6399818-1 | A 34-year-old Japanese woman had a chief complaint of bilateral coxalgia. She visited the Department of Dermatology at our hospital at 17 years of age after developing yellow-brown papules on her neck, eyelids, and armpits at the age of 16 years. She was diagnosed as having xanthoma disseminatum, and she has been followed up by staff in the Departments of Dermatology and Internal Medicine since then. At the age of 33 years, she developed left coxalgia and visited our department for the first time. Her Japanese Orthopaedic Association (JOA) score of hip joint function was 56 points. Radiographs revealed slight narrowing of the joint space, which manifested as mild arthrosis, but we decided to perform a conservative course of observation. Her left coxalgia became aggravated, and she developed pain in her right hip joint that interfered with activities of daily living (ADLs). Thus, she was hospitalized for close examination and treatment at the age of 34 years.
Regarding her medical history, there was nothing in particular to note apart from xanthoma disseminatum and its complications. Concurrent diseases of xanthoma disseminatum included xanthomas in the hypophysis, respiratory tract mucosa, bulbar conjunctiva, and kidney peripheries, in addition to diabetes insipidus, chronic renal failure, and hypothyroidism. She had undergone tracheotomy at the age of 31 years because of respiratory tract constriction caused by a respiratory tract mucosal lesion. Xanthoma disseminatum had been controlled with orally administered prednisolone.
She experienced pain in both hip joints during walking and body movements, and she was able to walk continuously for approximately 15 minutes. Ranges of motion of both hip joints were restricted to 100°/100° in flexion and 10°/10° in abduction. The JOA scores were 48 in her right hip and 42 in her left hip.
Although plain radiographs revealed narrowing of the joint space, irregularity on the loading plane, and bone sclerosis in her left hip during the first examination, the joint spaces had disappeared in both hip joints by the time of admission, with deformation of the femoral heads, indicating progression of arthrosis. Numerous 5-mm radiolucent bands that resembled worm-eaten tracks were observed in the lower part of the femoral heads adjacent to the joint surface (Fig. a, b). A magnetic resonance imaging (MRI) scan revealed high-intensity areas—slightly higher than T1-weighted image intensity—along the joint capsules and synovial capsules that infiltrated the bone in a pattern resembling worm-eaten tracks. Short tau inversion recovery imaging scans showed high-intensity areas from the femoral head to the neck in both femurs—particularly in the left femur—suggesting bone marrow edema (Fig. a, b).
Since hip arthrosis progressed rapidly in both hips 1 year after the first examination, we suspected hip arthrosis caused by xanthoma disseminatum. Total hip arthroplasty (THA) was performed on her left hip first because she had more severe pain on the left side. THA was performed on her right hip 9 months later.
A posterolateral approach was used in both hip joint operations, and AMS cups and Perfix 910 stems (both cementless) (Kyocera, Osaka, Japan) were used as implants. The intraarticular pressure was high on both sides, and yellow tumorous lesions bulged from the joint capsule upon incision. The tumorous lesion was excised as much as possible after osteotomy of the femoral neck. Multiple yellow, tumorous lesions in the neck of the femoral heads were dissected with an obscure boundary to the joint capsule. When the femoral head was cut longitudinally, yellow, tumorous lesions infiltrated in patterns of worm-eaten tracks, as observed by radiographic and MRI scans (Fig. a, b).
Various inflammatory cells, including xanthoma cells, infiltrated the bone, and Touton-type multinucleated giant cells were observed. Mitosis—observed sporadically in the tumor cells—was normal (Fig. a, b). Macroscopic bone defects showed corresponding histological findings, and intraosseous and intraarticular lesions of xanthoma disseminatum were diagnosed.
At the time of the last observation (4 years after THA of our patient’s right hip joint and 4 years and 9 months after THA of her left hip joint), the JOA scores were 88 in both joints, and there was no disturbance of ADLs. Plain radiographs showed no deflection of the implants, and her postoperative course was satisfactory (Fig. a, b). |
pmc-6399858-1 | A 60-year-old woman was diagnosed with 18 × 14 mm UM of the right eye and underwent enucleation in 2009. Pathology confirmed UM with monosomy 3 and 8q amplification. She developed a solitary hepatic metastasis in 2014 and underwent right hepatectomy. A multi-gene panel analysis of the tumor showed somatic BAP-1 and GNA11 mutations. She developed extensive metastases 9 months later with multiple hepatic, bone and lung lesions, and elevation of lactate dehydrogenase (LDH) > 1300 U/L. She received combination nivolumab and ipilimumab therapy. After two infusions, she developed central serous retinopathy of the left eye with retinal detachment, tinnitus and vitiligo resembling Vogt-Koyanagi-Harada (VKH) disease, an ocular autoimmune syndrome (Fig. c). CT scan at 12 weeks demonstrated significant reduction in hepatic metastases (Fig. a and b), and disappearance of lung and bone metastases. LDH level initially rose and then normalized (Fig. f). She continued on nivolumab monotherapy and experienced a near-complete response, but developed grade 3 duodenitis (Fig. d and e) requiring prolonged high-dose immunosuppressive therapy, including high-dose prednisone, followed by infliximab, and vedolizumab with eventual resolution. The clinical antitumor response persisted for over 1 year from treatment initiation and over 9 months from the last dose of immunotherapy. Unfortunately, she developed progressive brain and liver metastases after 1.5 year. Nivolumab monotherapy was resumed resulting in a mixed response and additional skin and eye toxicity, preventing further treatment. Due to overall declining health, the patient decided for supportive care and died 6 months after reinitiating original systemic therapy. |
pmc-6399873-1 | A 12-year-old, neutered male Beagle was referred to the Comparative Ophthalmology Service at MSU-VMC for evaluation of suspected visual impairment. The patient had trained and competed dog agility which allowed the owner to detect vision deficits early. Three weeks prior to the visit to MSU-VMC, the owner first noticed that the dog became slow to read hand signs on his left side. He was reported to be healthy otherwise and was not on any medication prior to the first visit to MSU. At the time of visit, a complete ophthalmic examination was performed including neuro-ophthalmic evaluation, Schirmer tear test (Schirmer tear test strips, Schering-Plough Animal health, Kenilworth, NJ, USA), fluorescein staining (Ful-Glo fluorescein sodium ophthalmic strips, AkornLake Forest, IL, USA), tonometry (Icare Tonovet, Vantaa, Finland), slit-lamp biomicroscopy (Kowa SL-17 portable slit lamp, Tokyo, Japan), and binocular indirect ophthalmoscopy (Keeler binocular indirect ophthalmoscope, Broomer, PA, USA; Volk pan retinal 2.2D, Mentor, OH, USA). Examination showed the left eye (OS) to be non-visual, though it did have positive direct and consensual (from left to right eye) pupillary reflexes. Additional anterior segment findings included: moderate episcleral congestion, mild diffuse corneal edema, and mydriasis. Posterior segment examination revealed asteroid hyalosis, decreased myelination and cupping of the optic nerve head, and mild retinal vascular attenuation OS. Examination of the right eye (OD) was within normal limits. IOP measured with a rebound tonometer (Tonovet, Icare USA, Raleigh, NC, USA) was 24 mmHg OD and 49 mmHg OS. Clinical findings were consistent with glaucoma OS, which, based on a lack of recognizable other ocular disease, was presumed to be primary.
Gonioscopy was performed OD and recorded with a high-resolution ocular imaging system (RetCam, Clarity Medical Systems, Pleasanton, CA, USA). The ICA OD was narrow and had moderate pectinate ligament dysplasia (PLD) characterized by broad based pectinate ligament strands (fibrae latae) and solid sheets (laminae) throughout all 4 quadrants (Fig. ). The ICA OS was not able to be examined due to a corneal edema. Based on the fast progressing disease process and the clinical findings, including the abnormal ICA in OD, the most likely diagnosis for OS was PACG. A blood sample was submitted for commercially available DNA testing (Optigen, Ithaca, New York, USA). The results showed that the dog did not carry the Gly661Arg missense mutation in ADAMTS10 responsible for the only reported POAG in Beagles, further supporting the PACG diagnosis.
During the first visit, one drop of latanoprost 0.005% ophthalmic solution (Akorn, Lake Forest, IL, USA) was administered OS. Thirty minutes later, IOP OS decreased from 49 mmHg to 21 mmHg. To maintain control of the IOP OS, the patient was treated with topical glaucoma medications including latanoprost 0.005% ophthalmic solution (one drop administered OS every 12 h) and dorzolamide HCl-timolol maleate 2–0.5% ophthalmic solution (Hi-Tech Pharmacal, Amityville, NY, USA—one drop administered OS every 8 h). Based on the gonioscopy results and with hopes of delaying glaucoma onset, the OD was also prophylactically treated with dorzolamide HCl-timolol maleate ophthalmic solution (administered one drop to the left eye every 12 h) [].
On recheck examination, one week following the initial presentation, IOPs were normal at 13 mmHg OD and 17 mmHg OS and trace aqueous flare was observed in both eyes. Menace response was positive OD, but remained negative OS. The owner elected to continue with the medical management. Thus, we recommended the same glaucoma medications at the same doses and frequencies and periodic IOP rechecks by the referring veterinarian (rDVM). The owner was also educated on how to monitor for the signs of an IOP spike including vision loss, blepharospasm, episcleral congestion, and corneal edema. IOP was well-maintained with medical management until approximately three months after initial presentation when the rDVM measured IOP OS as 32 mmHg and OD 8 mmHg. At that time, the frequency of latanoprost 0.005% ophthalmic solution was increased to every 8 h for the OS.
Approximately six months following the initial presentation, there was another IOP spike OS to 52 mmHg; IOP OD was 20 mmHg. With OS no longer responding to topical medication, the rDVM enucleated OS for long-term pain control. Histopathologic findings OS were consistent with chronic glaucoma with goniodysgenesis. There was a broad, non-perforate, sheet-like band of uveal stroma bridging from the base of the iris to the terminal arborization of Descemet’s membrane, which was consistent with the gonioscopic findings OD (Fig. ). The ciliary cleft OS was collapsed, the trabecular meshwork was largely unapparent, and the corneoscleral trabecular meshwork had undergone mild remodeling by loosely arranged fibrosis. In addition, there was mild pigment dispersion within the posterior chamber, inner retinal atrophy with retinal ganglion cell loss of the tapetal retina, segmental full thickness retinal atrophy of the nontapetal retina, segmental retinal detachment, marked optic disc cupping with rarefaction and mild gliosis and atrophy of the optic nerve head as well as posterior displacement of the lamina cribrosa, and mild corneal edema (Fig. ). Based on the ophthalmic examinations, gonioscopy, genetic testing, and histopathologic evaluation, the diagnoses of PLD OD and PACG with goniodysgenesis OS were confirmed.
During the next ophthalmic examinations at MSU-VMC—performed seven months following initial presentation—IOP was 13 mmHg OD. A trace amount of aqueous flare and mild pigment deposition on the anterior lens capsule were observed OD, suggesting persistent low-grade uveitis OD. Dorzolamide HCl-timolol maleate ophthalmic solution (one drop administered to right eye every 12 h) was continued OD and a topical non-steroidal anti-inflammatory medication, diclofenac 0.1% ophthalmic solution (Akorn, Lake Forest, IL, USA, one drop to right eye every 12 h) was prescribed. Approximately 14 months from the initial diagnosis of glaucoma OS, OD progressed to acute congestive stage of glaucoma with blindness diagnosed by the MSU-VMC Emergency and Critical Care Service. Medical management failed within one week, and the owner elected to have the eye enucleated. Histopathologic findings OD were consistent with goniodysgenesis and were similar to the findings noted in OS with the addition of pre-iridal fibrovascular membrane (PIFM) leading to posterior synechia, mild lymphoplasmacytic anterior uveitis, and mild corneal neovascularization (Figs. and ). There was no retinal detachment or optic nerve cupping in this eye. |
pmc-6399886-1 | A 45-year-old HIV-infected black man, mechanic, has sought emergency department referring progressive asthenia for two weeks, with difficulty on performing basic daily life activities, anorexia, fever and profuse sweating. During this time, he reported a weight loss of 3Kg. In the last 24 h, he had vomiting episodes preceded by nausea, in small volume, without relation to feeding. The patient denied other symptoms like headache, cough, abdominal pain and diarrhea. The HIV infection was diagnosed 8 years ago and his current antiretroviral therapy consisted of tenofovir disoproxil fumarate – lamivudine – efavirenz in a once-daily single-pill. His medical history was remarkable for poor adherence to antiretroviral therapy. His recent CD4+ and CD8+ T lymphocytes counts were 26 (1.92%) and 509 (37.9%) cells/μL respectively and the viral load was 252,624 copies/mL (5.402 Log10). He was also using a trimethoprim-sulfamethoxazole double-strength tablet for Pneumocystis jirovecii prophylaxis. The patient had pulmonary tuberculosis 8 years ago, his AIDS-defining illness. In addition, he had several previous hospitalizations for chronic diarrhea. He used to drink distilled beverages thrice a week and denied tobacco use. The patient raised a dog and a parakeet as pets. He was born in Angicos City, rural area of Rio Grande do Norte, Brazil, an endemic region for visceral leishmaniasis and Chagas disease.
On admission, vital signs were: axillary temperature 38.0 °C, blood pressure 100/80 mmHg, pulse rate of 110 bpm and respiration rate of 24 bpm. His physical examination was remarkable for cachexia (body weight of 38Kg and body mass index of 13.9Kg/m2) and a mild hepatomegaly. He was lucid and oriented. There were no signs of meningeal irritation. The neurological examination was normal. Laboratory tests showed pancytopenia: hemoglobin of 100 g/L; white blood cell counts of 2.7 × 109/L (74% neutrophils and 22% lymphocytes) and platelets count of 123 × 109/L. The erythrocyte sedimentation rate was 68 mm [Reference Interval (RI): 0 – 15 mm] and serum C - reactive protein level was 28.5 nmol/L (RI: < 57.1 nmol/L). The serum creatinine was 0.058 mmol/L (RI: 0.044–0.106 mmol/L) and serum urea was 3.18 mmol/L (RI: 1.66–8.32 mmol/L). The alanine and aspartate aminotransferases levels were 43 and 23 IU/L (RI: 0–37 and 0 – 42 IU/L, respectively). The alkaline phosphatase and gamma-glutamyl transferase levels were 201 IU/L and 49 IU/L (RI: 80 – 306 IU/L and 11 – 61 IU/L, in this order). The serum albumin was 39.4 g/L (RI: 35 – 55 g/L), total bilirubin level was 8.55 μmol/L (RI: 3.42–20.52 μmol/L) and prothrombin time and activity were 13.5 s and 100% (RI: 9.5–13.5 s and ≥ 70%). The serum lactate dehydrogenase level was 477 IU/L (RI: 225 - 450 IU/L). Chest X-ray was normal. An abdominal ultrasonography showed hepatomegaly and cholelithiasis.
He has been treated for febrile neutropenia with cefepime for 7 days, without changes in clinical symptoms. Blood cultures were negative for bacteria and fungi. The serologic tests were negative for hepatitis B and C, visceral leishmaniasis and Chagas disease. Tuberculin Test was non-reactive. Venereal disease research laboratory (VDRL) testing was negative too. Cryptococcal antigen testing in serum was not performed, because it is not available at our service. Histoplasma antigen testing in urine was negative. Due to pancytopenia, the patient underwent a bone marrow aspirate and biopsy. The direct examination presented a non-specific hypocellularity and was negative for fungi, mycobacteria and hemoparasites. After 5 days, bone marrow aspirate culture yielded encapsulated yeasts in budding on India ink stain, identified as Cryptococcus sp. Then, the patient underwent a lumbar puncture to investigate meningitis. The cerebrospinal fluid (CSF) had a clear appearance, an opening pressure of 160mmH2O, a cell count of 2 leukocytes, protein of 44 mg/dL and glucose of 55 mg/dL, and numerous encapsulated yeasts in budding were seen on India ink stain. The CSF culture yielded Cryptococcus sp. Bone marrow aspirate culture was negative for bacteria, mycobacteria and Leishmania sp.
The bone marrow biopsy revealed 30 % of hematopoietic cellularity with representation of the three cellular lineages, characterizing a hypocellular bone marrow for age. The megakaryocytes were present in increased numbers and megakaryocytes with mild dysplasia (hypolobated nuclei) were rarely observed. The myeloid series presented a preserved maturation scale with predominance of mature forms and the erythroid lineage was arranged in small islands without particularities. There were typical plasma cells scattered in hematopoietic tissue. Silver staining revealed a delicate network of reticulin fibers without fibrosis. The Masson’s trichrome staining showed no collagen fibers deposition. Giemsa, Fite-Faraco and Periodic Acid-Schiff staining were negative. In the mucicarmine staining, it was observed presence of loosely formed granuloma composed of multinucleated giant cells encompassing rounded yeast like organisms compatible with Cryptococcus sp. (Fig. ).
For species and genotype identification, the isolate was grown on Sabouraud dextrose agar at 37 °C for 48 h and deoxyribonucleic acid (DNA) was extracted by initial mechanical rupture of yeast cell in liquid nitrogen using a pestle and mortar following the extraction protocol of McCullough et al. []. The URA5 gene was amplified by Polymerase Chain Reaction (PCR) according to the method suggested by Meyer et al. []. The isolate was identified as C. neoformans var. grubii (genotype VNI) (Fig. ).
The patient was treated with amphotericin B deoxycholate at 1 mg/Kg daily, combined with fluconazole at 800 mg daily given intravenously. After a week of treatment, the patient developed acute kidney injury stage 3, according to the Kidney Disease: Improving Global Outcomes (KDIGO) criteria [], with increase of serum creatinine and urea levels to 0.185 mmol/L and 11.98 mmol/L, respectively. At the discretion of assistant doctor, the treatment was switched for fluconazole at 1200 mg daily during the remainder of the 14-day induction phase. The patient was conservatively managed for acute kidney injury with return of baseline serum creatinine and urea levels after five weeks. CSF cultures for fungi were negative at one and two-weeks of treatment. After that, the patient was treated with fluconazole at 800 mg daily throughout the 8-week consolidation phase.
The patient remained hospitalized throughout the induction and consolidation phases of the treatment due to socioeconomic reasons. He could not afford the costs related to the hospitalization neither his medicines, that was why the patient went to our hospital, a public health facility, besides he did not have an appropriate family support to help him recover and manage his condition. Cranial computed tomography (CT) showed cerebellar atrophy with compensatory fourth ventricle ectasia and cerebral atrophy with non-hypertensive dilation of the supratentorial ventricles and enlargement of grooves, fissures and cisterns. Magnetic resonance imaging (MRI) confirmed a non-habitual volumetric reduction of encephalic parenchyma for age with compensatory ectasia of ventricular system; the brain parenchyma signal-intensity was preserved. The patient had no fever nor vomiting within the first week of treatment and recovered from asthenia after four weeks of treatment. After induction and consolidation phases of treatment, the hematological parameters have improved: hemoglobin level of 110 g/L; white blood cell counts of 5.9 × 109/L (65% neutrophils and 30% lymphocytes) and platelets count of 166 × 109/L. He was discharged from hospital with recommendations to keep oral fluconazole at 450 mg daily (maintenance phase) and outpatient follow-up at a regional HIV/AIDS care service. |
pmc-6399895-1 | A 50-year-old man of Middle East ethnicity presented with a 16-week history of CSF rhinorrhea, short-term memory loss, and slight decline in cognitive function. On physical examination, clear watery rhinorrhea, right-beating nystagmus, tongue deviation to the left side, mild facial asymmetry, multiple lipomas, bradycardia (52 beats/minute), and high blood pressure (194/118 mmHg) were detected. Laboratory tests results revealed presence of beta-2 transferrin in rhinorrhea fluid and hypokalemia (3 mmol/L). There were no other abnormalities in his hematology (for example, blood count) and chemistry test results (for example, liver function and CSF analysis). His past medical history was significant for: hypertension; Dercum’s disease; right internal carotid dissection with pseudoaneurysm formation which was stable and conservatively treated, and followed with imaging; chronic compensated noncommunicating hydrocephalus secondary to obstruction at aqueduct of Sylvius, and a one-time seizure episode.
Computed tomography (CT) showed bony defects in his left lateral sphenoid sinus and right anterior cribriform plate (Fig. ). CT cisternography revealed adjacent meningocele to the aforementioned defects with pooling of intrathecal contrast, confirming herniation into the left lateral sphenoid and right anterior ethmoid air cells.
Magnetic resonance imaging (MRI) demonstrated a 2.9 × 1.8 × 1.8 cm right anterior meningocele traversing the anterior cribriform plate inferiorly into anterior ethmoid air cells and nasopharynx with extension into the right maxillary sinus (Fig. a). Another contrast extension from the left middle cranial fossa along its most anterior aspect into the most lateral aspect of the sphenoid sinus was identified suggesting a second meningocele measuring 1 × 1 × 0.9 cm (Fig. b). Both lesions were enhanced with gadolinium but no brain parenchyma could be identified within the sacs. Other findings on MRI included a significantly flattened pituitary gland within a remodeled sella and a slightly dilated ventricular system.
He underwent neuronavigation-assisted expanded endoscopic endonasal surgery with resection of the anterior skull base meningoceles. The first lesion was right ethmoidal and the second lesion was left sphenoidal. Repair of the dura was carried out with two layers of dural matrix. Insertion of a lumbar drain was done to drain CSF and for injection of fluorescein to help confirm dural seal. Opening pressure upon insertion of the lumbar drain at the time of surgery was 20 mmHg. Septal and anterior ethmoidal flaps were used to support the repair of the sphenoid and anterior ethmoidal lesions, respectively. He recovered uneventfully and postoperative imaging showed complete resolution of the meningoceles bilaterally (Fig. ).
Four weeks after the surgery, he presented to our clinic with CSF leak and headache. MRI revealed evidence of CSF leak noted within the left sphenoid sinus. He underwent an endoscopic repair of the CSF leak and insertion of a ventriculoperitoneal shunt. Postoperation, he recovered well and presented no symptoms. He had 3-year follow up with no recurrence of the meningoceles. |
pmc-6399966-1 | A 57-years-old female was admitted to the department of infectious diseases in our hospital with symptoms of cough and expectoration, aggravating with fever and dyspnea for more than 10 days. This patient was retired and she kept chickens at home; she had a history of thyroma and hypertension for an unknown period of time. She denied any history of prior lung disease or neurological illness.
She had complained of cough with white sputum after catching a cold 10 days before admission to the hospital, with no chest discomfort or dyspnea. Her symptoms became worse with the onset of a high fever (up to 39 degrees Celsius), accompanied by aches and pains all over the body and loss of appetite. She underwent treatment with cefotaxime sodium (2.0 g, q12H) for 3 days in a local clinic, however her symptoms continued to worsen and she was transferred to a general hospital. There she tested positive for influenza A virus infection on a rapid diagnostic test. The doctor suspected a severe influenza A virus infection and prescribed 150 mg of oseltamivir to be taken orally twice daily. She concomitantly received treatment of Tazocin (4.5 g q8H) and SoluMedrol (40 mg, Bid). This patient was confirmed to have the influenza A virus (subtype H3N2), according to virus culture tests and reverse transcription polymerase chain reaction analyses (RT-PCR) of the patient’s nasopharyngeal secretions, performed in the lab of the state’s center for disease control and prevention (CDC).
On her fourth day taking oseltamivir, the patient’s family noticed that she was suffering from hallucinations and interrupted delirium, and exhibiting unusual behaviors such as removing her own infusion pipe. She insisted that somebody was calling her to go to heaven, and that all of the doctors and nurses were malicious. She also presented with shakiness of both her upper extremities and her teeth from time to time. This lasted for seconds at a time and she was able to control the shakiness consciously, without foam at the mouth. She did not suffer from incontinence nor convulsions. She developed further symptoms including delusion and impaired calculation ability, however showed normal response intermittently, especially during the administration of benzodiazepine infusion (diazepam). The neuropsychiatric symptoms did not fluctuate nor deteriorate according to oseltamivir dosing times, and the patient continued to receive oral oseltamivir to fight the influenza A virus.
Four days after initiating treatment, the patient’s fever subsided and the respiratory symptoms alleviated. The oral oseltamivir was discontinued at that point. Her neuropsychiatric symptoms began to improve within a few days, and she was able to give correct answers to questions about her name, her families’ names, her age, and her location, as well as to perform simple calculations (additions and subtractions). She recovered completely within 10 days of the cessation of oseltamivir, and with continued administration of benzodiazepine for 5 days during treatment. |
pmc-6399980-1 | Three years ago, an 11-year-old girl presented to the hospital with pain in the right jaw after becoming aware of a mass in her right cheek. After detailed examination, the patient was diagnosed with ASPS with primary tumor in the right cheek and multiple lung metastases, and chemotherapeutic treatment was initiated. After receiving 1 cycle of VAC therapy (vincristine [2 mg], actinomycin D [0.045 mg/kg], and cyclophosphamide [1.2 g/m2]), the patient developed grade 4 neutropenia. After this treatment, the patient received 1 cycle of the treatment regimen prescribed for rhabdomyosarcoma (vincristine [2 mg], pirarubicin [60 mg/m2], cyclophosphamide [1.2 g/m2], cisplatin [20 mg/m2]) and 1 cycle of ifosfamide (1800 mg/m2), etoposide (100 mg/m2), actinomycin D (0.045 mg/kg), and vincristine (2 mg); however, the development of severe neutropenia made it difficult to continue administration of these drugs. The patient was then treated with oral administration of 800 mg/day of pazopanib for 1 year, and clinical benefit was achieved. Upon stabilization of the disease, oral administration of pazopanib was discontinued; however, 1 year later, fluorodeoxyglucose accumulation was observed in the right front of the skull (maximum standardized uptake value [SUV-max], 2.8) (Fig. a) and in the left breast (SUV-max, 2.4) (Fig. b) using fluorodeoxyglucose-positron emission tomography/computed tomography.
An elastic, soft tumor, approximately 3 cm in size, was palpated in the lower lateral region of the left breast. Ultrasonography revealed a hypoechoic, internally heterogeneous mass measuring 22.4 × 16.2 × 21.1 mm with a rich blood supply (Fig. a, b), while magnetic resonance imaging showed a 3-cm sized tumor that was larger than the one found on prior imaging (Fig. c). Examination of a core-needle biopsy specimen from the same site showed proliferating tumor cells with abundant foamy cytoplasm, clear nucleoli, and oval nuclei (Fig. a, b). The tumor cells tested positive for AE1/AE3, CAM 5.2, vimentin, S-100, α-actin, desmin, and HMB 45. The specimen showed negative periodic acid–Schiff (PAS) staining after diastase digestion (Fig. a, b); furthermore, the specimen then tested positive for transcription factor E3, resulting in a pathological diagnosis of ASPS (Fig. c). Based on the above information, we established a diagnosis of ASPS with left mammary, lung, and cranial metastases. Due to chemoresistance, surgical excision was selected as the mode of treatment; resection of the cranial bone showing metastasis was performed first and partial mastectomy of the left breast was performed in two stages. The mammary tumor was 25 mm in size, and the cut surface was solid with a reddish gray color (Fig. a, b). Histological findings similar to those of the needle biopsy specimen were also obtained in the final pathological diagnosis and resection margins were negative. Postoperative conditions were good, and we are currently monitoring the patient through regular follow-ups (visual palpation every 3 months and semi-annual mammary gland ultrasonography). |
pmc-6400171-1 | A 64-year old female with unresectable ovarian carcinoma underwent resection of the seeding nodule of ovarian carcinoma and created a loop ileostomy in the right lower part of the abdomen due to direct invasion of the carcinoma to the terminal ileum. During the formation of the loop ileostomy, the ileum penetrated the rectus abdominis muscle; the ileum was fixed to the anterior sheath of the rectus abdominis muscle with 8–10 stitches. Furthermore, the ileum and skin were also fixed with 12 stitches. There was no fixation between the peritoneum and the mesentery of the ileum. The patient subsequently underwent chemotherapy. Prolapse of the ileostomy appeared approximately 17 months after the operation, and it continued to progressively worsen. Repositioning of the prolapse was especially difficult, as bleeding occurred from the mucosa of the prolapsed intestine, and there were edematous and ischemic changes of tip of prolapsed intestine. Thus, we decided to perform the operation. The patient’s Performance Status was three and the general state was gradually getting worse. Pethidine hydrochloride (17.5 mg) was administered intravenously to obtain pain relief just before the operation. No heavy sedative was prescribed for the patient and, while conscious, the patient remained lucid throughout the operation.
The prolapsed intestinal tract with the Alice forceps was cut in accordance with the axis that intersected perpendicular to the mesentery by GIATM 60-4.8 (COVIDIEN, Dublin, IRL) (Fig a and b). It was separated so that the height of the intestinal tract that remained might be set 4–5 cm from the skin. Next, the isolated intestinal tract was separated using the same device in the direction of the minor axis (Fig. c). The interrupted suture was carried out to reinforce the part at which the stapler overlapped using absorbable sutures, and the operation was completed (Fig. d). The postoperative progress was good, and the chemotherapy was continued. The patient’s general state got worse gradually, and her treatment became a plan of best supportive care. Nineteen months after the first time operation, the general state got even worse and she died. After revision of the prolapse, there were no further troubles with the ileostomy. |
pmc-6400852-1 | A 74-year-old man was admitted to our institution for investigation of progressive neurological symptoms. The patient was diagnosed with seropositive RA in 2015, which was quiescent on maintenance methotrexate, hydroxychloroquine and low-dose prednisone (10 mg daily). Titers of both rheumatoid factor and antibodies to cyclic citrullinated peptide were elevated. One week prior to admission, the patient developed fluctuating confusion, apathy, word-finding difficulty, right-sided weakness and gait imbalance. He had also experienced several other similar self-limited episodes within the 3 preceding months. The initial neurological examination was remarkable for decreased attention span, severe expressive aphasia, bilateral postural tremor, right hemiparesis and hypoesthesia, as well as a shuffling and wide-based gait. Clinical evaluation by rheumatology confirmed absence of synovitis and no evidence of extra-articular RA involvement. Gadolinium-enhanced head magnetic resonance imaging (MRI) showed finite areas of scattered restricted diffusion and enhancement within the cortex and leptomeninges of the left hemisphere near the vertex, suspicious for meningoencephalitis (). Cerebrospinal fluid (CSF) analysis showed 6 white blood cells (WBCs), 85% lymphocytes and 15% monocytes, a protein concentration of 0.86 g/L (normal 0.15–0.45 g/L) and a normal glucose content. CSF bacterial and fungal cultures were negative, as were cryptococcal antigen, herpes simplex virus, and syphilis testing. Serum C-reactive protein was markedly elevated at 135 mg/L (normal 0–5 mg/L). Antinuclear antibodies and anti-neutrophil cytoplasmic antibodies were negative. Serologies for human immunodeficiency virus and anti-onconeural antibodies were negative. Methotrexate blood levels were within nontoxic range and immunoglobin G4-subclass titers were normal. Additionally, QuantiFERON-TB testing for Mycobacterium tuberculosis was negative. Serum angiotensin-converting enzyme (ACE) level was mildly elevated (66 U/L), as was beta 2-microglobulin (4.6 mg/L). High-resolution computed tomography (CT) scan of the chest was not suggestive of sarcoidosis.
Shortly after admission, the patient experienced two brief generalized tonic-clonic seizures. Following treatment with phenytoin, the patient's mental status and neurological examinations normalized completely. Electroencephalography (EEG) revealed nonspecific diffuse cortical slowing without interictal epileptiform activity. Two weeks later, the patient developed recurrence of his presenting neurological symptoms, in addition to new asymmetrical acute parkinsonism of the right hemibody (rigidity, bradykinesia, and resting tremor). Titration of his antiepileptic medication and addition of levetiracetam, lacosamide, and clobazam allowed for control of the symptoms, except for parkinsonism. The patient subsequently developed marked fluctuations of his mental status, ranging from an apathetic state to a confused and combative state. Repeat EEG and CSF analysis were essentially unchanged from previous. CSF cytology showed occasional atypical lymphocytes negative for CD3 and CD20. Additional analyses on CSF, including Mycobacterium tuberculosis culture, PCRs for Epstein-Barr virus and cytomegalovirus, ACE level and anti-neuronal cell surface antibodies, all proved negative. A follow-up MRI, 4 weeks after admission, showed progression of the left-sided cortical and leptomeningeal areas of restricted diffusion and enhancement, as well as new right frontoparietal cortical diffusion restriction and leptomeningeal enhancement (). A whole-body positron emission tomography scan did not reveal evidence of an underlying malignancy. Further work-up with a bone marrow biopsy showed no evidence of lymphoid neoplasm.
An open meningeal biopsy was performed and gross examination revealed thickening and opacification of the meninges. Hematoxylin and eosin (H&E) stained sections demonstrated meningothelial hyperplasia () with acute and chronic inflammation associated with fibrosis and entrapment of the underlying brain parenchyma, which showed evidence of chronic gliosis. The most striking feature was the presence of classical zones of palisading necrobiosis (). The chronic inflammatory aggregates consisted in reactive CD3 positive T cells with fewer number of CD20 positive B lymphocytes, as well as CD68 positive macrophages and CD138 plasma cells with no evidence of light chain restriction (). Despite the presence of perivascular leptomeningeal inflammation, no significant vasculitis was present. All the special stains for microorganisms, mycobacteria, and fungal elements were negative. The histopathological findings were consistent with leptomeningeal involvement by nodular rheumatoid meningitis.
Following histopathological confirmation of the diagnosis, immunosuppressive therapy with monthly cyclophosphamide (500–750 mg/m2 for 6 months) and high-dose corticosteroids was initiated. Corticosteroid regimen consisted of methylprednisolone 1,000 mg IV daily for 5 days, then prednisone 80 mg daily (1 mg/kg) tapered by 10 mg every 2 weeks up to a dose of 40 mg daily, at which point the dose was tapered by 5 mg every 2 weeks for 2 months then by 5 mg every 4 weeks for 4 months. Methotrexate was discontinued due to its failure to prevent disease progression, while hydroxychloroquine was continued. One month following treatment initiation, the patient's neurological examination improved, although confusion and bilateral postural tremor persisted. Furthermore, most parkinsonian features, except for mild leg rigidity, largely resolved following immunosuppressive therapy. Residual parkinsonism was not felt to be severe enough to warrant dopamine-replacement therapy, especially as it was felt that the parkinsonism was most likely secondary to the underlying RM and not due to a primary neurodegenerative process. Additionally, dopamine-replacement therapy was withheld as it was previously reported to be ineffective in a case of rheumatoid meningitis-induced parkinsonism (). All antiepileptic drugs, aside from lacosamide, were eventually tapered without clinical or electrographic seizure recurrence. Repeat MRI 3 months after treatment initiation showed complete resolution of previous findings (), correlating with normalization of CRP levels. Despite this radiographic improvement, the patient suffered from persistent behavioral and cognitive deficits with intermittent periods of agitation. The neuropsychiatric sequelae remained disabling enough for the patient to eventually be transitioned to a long-term care facility. |
pmc-6401522-1 | The patient was a 43-year-old man admitted to our hospital with 5 days history of slurred speech, unsteady gait, altered mental state, seizures and incontinence. The patient had been consuming an average of 250 mL of spirit (Chinese liquor, ≥ 52% v/v) per day for the last 25 years. Upon admission, the patient was in coma with a Glasgow Coma Scale (GCS) of 9. Physical examination showed normal pupillary size and reaction. Muscle tone and tendon reflexes were normal. Plantar cutaneous reflexes exhibited bilateral flexion.
The baselines CBC were within normal limits except for mild anemia (119 g/L). Electrolytes (sodium, potassium, magnesium, and phosphate), calcium, chloridion, albumin levels, creatinine, urea, blood lipids, blood glucose, C reactive protein and thyroid were normal. ELISA for HIV and syphilis were negative. Testing for antibodies and antigens of hepatitis B and C were all negative, except for positive HBsAb. Baseline vitamin levels were not obtained. Cerebrospinal fluid showed a slightly increased protein level of 0.64 g/L, with normal nucleated cell count, glucose, chloridion and negative viral IgM. Gram’s stain, acid-fast stain and India ink stain for cerebrospinal fluid were all negative.
Magnetic resonance imaging (MRI) was performed 7 days after onset on a 1.5 T magnet (Toshiba, 1.5 T, EXCELART vantage MRT-1503 Atla-Basic) with the following parameters: proton density-weighted imaging (PDWI): TR/TE of 1400 ms/15 ms; T2WI: TR/TE of 4300 ms/105 ms, slice thickness 5 mm, interslice gap of 1.5 mm; DWI: TR/TE of 5300 ms/100 ms, field of view was 240 mm, two b values were acquired (0 and 1000 s/mm2), slice thickness was 5 mm, and interslice gap was 1.5 mm; fast fluid attenuated inversion recovery (FLAIR) imaging: TR/TE was 8000 ms/105 ms, field of view was 240 mm, TI was 2200 ms. Postcontrast PD-weighted (TR, 1600 ms; TE, 15 ms) images were acquired after intravenous administration of 0.2 mL/kg body weight of gadopentetate dimeglumine at a rate of 2 mL/s. The MRI revealed symmetrical and bilateral hyperintense lesions throughout the entire CC, and in scattered parts of bilateral hemispheric white matter and cortex, visualized on diffusion-weighted imaging (DWI) (), T2-weighted (), and fluid attenuated inversion recovery sequence (FLAIR) () imaging. Lesions that were enhanced by gadolinium could be seen in the splenium and some extracallosal regions (, ).
A diagnosis of MBD was made. The patient was treated with thiamine (100 mg/d) and mecobalamin (500 μg/d) intramuscular. Three weeks after symptoms onset there was significant improvement. The patient’s consciousness was improved with a GCS of 13. He was able to move all limbs, have simple conversation and control urination and defecation.
Follow-up head MRI was performed 22 days after onset on a 1.5 T magnet (Toshiba, 1.5 T, EXCELART vantage MRT-1503 Atla-Basic) with the following parameters: PD-weighted imaging (PDWI): TR/TE of 1550 ms/15 ms; T2WI: TR/TE of 4300 ms/105 ms, slice thickness 5 mm, interslice gap of 1.5 mm; fast fluid attenuated inversion recovery (FLAIR) imaging: TR/TE was 8000 ms/105 ms, field of view was 240 mm, TI was 2200 ms. Postcontrast PD-weighted (TR, 1476 ms; TE, 15 ms) images were acquired after intravenous administration of 0.2 mL/kg body weight of gadobenate dimeglumine at a rate of 2 mL/s. Corresponded to the clinical improvement, follow-up head MRI performed 22 days after onset showed only mild remaining of the formerly impressively hyperintensity on T2-weighted imaging (). Intriguingly, necrosis without enhancement had occurred in the formerly gadolinium-enhanced lesion (, ). |
pmc-6402086-1 | A 68-year-old man had a history of chronic systolic heart failure and dilated cardiomyopathy, with a left ventricular ejection fraction of 32% and a left ventricular internal diastolic diameter of 81 mm. His electrocardiograph had revealed a sinus rhythm with a QRS duration of 140 ms along with a left bundle branch block morphology. He underwent a cardiac resynchronization therapy-defibrillator (CRT-D) device implantation. However, 2 weeks after the procedure, he was re-admitted to our hospital with a 4-day history of pain and swelling at the CRT-D pocket site, associated with scant serous drainage. Prior to this admission, he had undergone a skin incision and drainage at another hospital, but the procedure had failed to relieve his symptoms. The patient had a history of hypertension, a myocardial bridge in the left anterior descending coronary artery and diabetes mellitus (on irregular therapy). He also had a history of pulmonary tuberculosis 40 years previously and had completed the curative treatment course successfully, at the time. His regular medications included metoprolol, perindopril, torsemide, and amiodarone.
During re-admission, the patient did not have complaints of fever, chills, or fatigue. The physical examination was unremarkable, except for a 2-cm long, open incision on the upper left side of the chest, with mild localized edema over the CRT-D pocket. The skin around the incision was erythematous, and a small amount of scant serous discharge was noted on pressing the pocket site. Considering the likelihood of CRT-D infection, we collected the patient’s blood samples to perform cultures for aerobic and anaerobic bacteria. The samples of the exudate were also tested, using microscopic examination and culture, not only for the usual causative bacteria but also for the rarer acid-fast bacilli. On initial microscopic examination, the exudate smear did not reveal any organisms. An echocardiogram showed no evidence of vegetation or thrombosis. Other laboratory test results, including a routine blood count and erythrocyte sedimentation rate, were within normal limits. The patient also tested negative for the human immunodeficiency virus (HIV) and the hepatitis B virus. He was started empirically on intravenous vancomycin and cefepime.
On the 3rd day of hospitalization, we performed a pocket reconstruction. The CRT-D was re-implanted below the pectoralis major muscle in the left pectoral region and connected with the pacing electrodes placed in the earlier pocket site through a subcutaneous tunnel. However, the incision site did not heal, and the localized edema worsened, with copious exudation from the drainage site. After the reoperation, the exudate was collected and cultured. Within 3 days, a smear test of the exudate revealed an acid-fast bacillus, and culture results showed a rapidly growing nontuberculous mycobacterium (RGM). As recommended by our infectious diseases department, the isolate was sent to the microbiology laboratory for a polymerase chain reaction test. An amplification of the bacterial 16S ribosomal RNA gene, helped us identify the bacterial species as Mycobacterium fortuitum (M. fortuitum). The patient was therefore diagnosed with CRT-D infection due to M. fortuitum.
Once the causative organism was definitively identified, the patient’s therapeutic antibiotic regimen was empirically changed to intravenous clarithromycin, moxifloxacin, and amikacin. At the same time, an incision and debridement of the first pocket site was performed, and the entire device along with the leads were extracted, percutaneously. With dedicated wound care, the swab culture tests eventually yielded negative results and the incision healed well. After 2 months of administration of combined intravenous treatment, the patient was discharged. He was further administered oral clarithromycin and moxifloxacin for 1 year. He was continued to follow up for next 2 years. During 3 years, we checked the pocket site every 3 months and evaluated his cardiac function by echocardiography, as well as recorded the QRS complex width by ECG. He remained asymptomatic of incision infection but we found that the patient’s heart failure condition had gradually deteriorated (left ventricular ejection fraction decreased from 32 to 26%) and life-threatening rapid ventricular arrhythmias occurred even under the optimal drug treatment. The patient was then re-implanted with another CRT-D device at nearly the same previous site. The symptoms of heart failure were significantly improved. ECG showed the QRS complex width was decreased from 140 ms to 112 ms. Echocardiography showed the LVEF were increased to 45% after 6 months of the re-implantation. The patient has now remained free of infection over 4 years (Table ). |
pmc-6402098-1 | A 14-year-old South Asian boy from rural Bengal (India), born of a second degree consanguineous marriage, with normal birth and development history, presented with abnormal brief jerky movements involving his trunk and limbs, with recurrent falls for 10 months. The jerks were neither stimulus sensitive nor present during sleep. No loss of consciousness was reported to occur with these jerky movements. Recurrent convulsions involving the left half of his body, without impairment of awareness, was present for 8 months. It was followed by insidious onset of mild weakness of the left half of his body for 7 months. Subsequently he suffered progressive decline in his general ability to maintain average daily activity independently for 5 months. He had to discontinue schooling because of his failing cognitive functions. For 2 months prior to presenting to us, he developed rapid dance-like movements involving all four limbs that flowed from one muscle to the other in a more or less continuous fashion. Occasionally it would become somewhat flinging particularly in his upper limbs. There was no history of similar illness in the family. He received all the scheduled vaccines as was stated by his mother.
The height of the boy was 150 cm and he did not have any dysmorphic facial features. A clinical examination revealed generalized choreiform movements as the most obvious finding. These movements intermittently became flinging in nature, resembling ballism. Generalized myoclonic jerks were seen embedded inside the flurry of chorea-ballism. When he was asked to protrude his tongue, besides motor impersistence, oromandibular dystonia was also found. He had severe dysarthria with apparently preserved comprehension. A limited cognitive assessment revealed reduced attention span as well as short-term memory impairment. Rigidity was obvious in all four limbs along with dystonia in both lower limbs. Weakness in the left half of his body along with brisk reflexes and extensor plantar on left side was also detected on motor system evaluation.
Routine laboratory parameters revealed impaired fasting glucose (120 mg/dl), mildly raised liver enzymes and creatine phosphokinase (CPK) level of 820 IU/L. Other blood and urine parameters were within normal limits. Screening investigation for Wilson’s disease, storage disorders, and metabolic disorders were all negative. A routine cerebrospinal fluid (CSF) study was unremarkable and anti-measles antibody was negative. Anti-nuclear antibody in blood was also negative. His serum level of lactate was 36 mg/dl (2–19 mg/dl) while CSF lactate was 42 mg/dl. Shortening of PR interval (0.10 second) was found in electrocardiography. Two-dimensional echocardiography was devoid of any abnormality. Serial brain imaging was done at different centers throughout the course of his illness. On studying his MRI brain images sequentially, a relapsing remitting pattern of lesions was detected. On T2/fluid-attenuated inversion recovery sequence (FLAIR) there were hyperintense lesions that mainly involved subcortical white matter in frontoparietal areas (Fig. ). An area of diffusion restriction was found in the right capsule-ganglionic region (Fig. ) that temporally coincided with the onset of left hemiconvulsions and hemiparesis. Magnetic resonance spectroscopy (MRS), done at our center, showed the presence of lactate peak in brain lesions. Brainstem auditory response revealed bilateral prolonged latency. Electromyography (EMG) showed short duration low-amplitude polyphasic motor unit action potential which was suggestive of myopathic pattern. Spike-wave discharges were observed arising from bilateral frontal areas on electroencephalography (Fig. ). A muscle biopsy, which was done from left vastus lateralis, revealed ragged red fibers (Fig. ), suggestive of mitochondrial failure and deposition of abnormal mitochondria below the plasma membrane of muscle fibers.
According to the clinical criteria, MELAS syndrome was the most probable diagnosis in our case and we needed to confirm the diagnosis. As a facility for analysis of respiratory chain enzymes in the muscle was not available, we decided to search for underlying genetic abnormality in mtDNA. A polymerase chain reaction (PCR) method was employed for this purpose. Amplification of DNA in whole blood sample of our patient was performed for detection of mutations 3243A>G, 3271T>C, and 3251A>G in mitochondrial tRNA leucine 1(MT-TL1), by using appropriate wild type and mutant type specific primers for each and a common reverse primer for all. Genetic analysis result was as following: A>G point mutation at position 3251 of MT-TL1 gene of the mtDNA with heteroplasmy of 70%.
After reaching the diagnosis, valproate was taken off and lamotrigine was introduced. He was put on co-enzyme Q supplement and haloperidol for abnormal movements. Six months into follow-up his seizures and abnormal movements were controlled significantly with slight improvement of cognitive abilities. |
pmc-6402120-1 | A 29 year-old woman was referred for fetal MRI at 21 weeks’ gestation because of suspected Dandy-Walker malformation according to mid-gestational ultrasound. Common chromosomal anomalies had been excluded. Magnetic resonance imaging using a Phillips 1.5 Tesla scanner revealed moderate rotation of the cerebellar vermis (Fig. a, b) which we believed was due to mild vermian hypoplasia. Dandy-Walker malformation was, therefore, excluded. Follow-up MRI at 1.5 Tesla was performed at 27 weeks’ gestation. Rotation of the vermis was less pronounced at that time and, given a cross-sectional area of 103 mm2 on a mid-sagittal single-shot T2-weighted image, vermian hypoplasia was rated minimal if present at all (Fig. c, d). Cesarean section was performed at 28 weeks’ gestation due to premature rupture of membranes after amniocentesis with subsequent intra-amniotic infection symptoms. In postnatal transcranial ultrasound at the age of 10 weeks, the cerebellar vermis appeared normal (Fig. e). Following intensive care for infant respiratory distress syndrome, the girl developed normally and was neurologically unremarkable at the corrected age of 3 ¾ years. |
pmc-6402120-2 | A 33 year-old woman was referred for fetal MRI at 21 weeks’ gestation for clarification of a suspected malformation in the posterior fossa. The following differential diagnostic suggestions were given after mid-gestational ultrasound: Mega cisterna magna, Blake’s pouch, Dandy-Walker sequence? Fetal imaging was performed on a 3 Tesla Siemens Magnetom Vida scanner. On MRI, the infero-posterior part of the cerebellar vermis appeared to be moderately hypoplastic (Fig. a, b). This was associated with a tegmento-vermian angle of 35 degrees, most probably due to non-perforation of Blake’s pouch. Dandy-Walker malformation (in the narrow sense) could be excluded (Fig. a). Follow-up images acquired on the same scanner at 31 weeks’ gestation depicted a slightly pronounced cisterna magna and a nearly normalized tegmento-vermian angle (Fig. d, e). The cross-sectional area of the vermis on a mid-sagittal Half-Fourier Acquisition Single-Shot Turbo Spin-Echo (HASTE) image was 112 mm2. With this pattern, we were unsure if the vermis was slightly hypoplastic or only compressed inferiorly as a consequence of delayed perforation of Blake’s pouch. Showing a very similar imaging pattern, 3 Tesla MRI at the age of 12 weeks confirmed the fetal imaging report, but did not add any relevant information (Fig. g, h). The boy was neurologically unremarkable at the age of 3 months. |
pmc-6402121-1 | We report a case of an 82-year-old white man, who never smoked tobacco or consumed alcohol, who presented with a 3-month history of tracheitis and dysphonia. His past medical history was characterized by multiple myeloma, Gilbert syndrome, chronic obstructive pulmonary disease (COPD) treated with bronchodilators, cardiac arrhythmia treated with amiodarone, and arterial hypertension treated with angiotensin-converting enzyme (ACE) inhibitors.
On arrival, his physical signs were as follows: oriented, collaborating, and autonomous walking; a neurological examination showed no abnormalities; blood pressure 130/85 mmHg and pulse 80 beats/minute; no fever; and regular bowel function and diuresis. Routine laboratory tests were performed, including complete blood count, renal and liver function tests, and electrolytes. All the results of the laboratory tests were almost within normal range.
A frontal and lateral chest radiograph was performed as first imaging procedure: it showed prominent pulmonary hila and a reduction of vascular marking, but no nodular lesions or neoformations were documented. Therefore he underwent a total body computed tomography (CT) scan without contrast, due to the multiple myeloma, which revealed the presence of massive hyperdense solid tissue in the mid-proximal trachea, protruding into the lumen. This neoformation determined compression and narrowing at the level of the anterior-lateral wall of the right portion of his esophagus.
Thus, he underwent a bronchoscopy that confirmed tracheal lumen narrowing between the first and fifth tracheal ring. A biopsy specimen of the lesion revealed a salivary gland-type neoplasm, showing a moderate degree of aggressiveness, with the characteristics of ACC (Fig. a, b).
Due to the rarity of the neoplasm, with less than two cases in 1 year in our institute, a review of the literature was made. A multidisciplinary team of oncologists, radiologists, radiotherapists, and surgeons decided to treat our patient with an endotracheal debulking surgical excision of the lesion followed by radiotherapy.
Three weeks after the surgery, a positron emission tomography (PET)/CT scan was performed: a residual solid tissue with a maximum diameter of 46 mm was evident in the middle mediastinum, infiltrating the upper middle third of his trachea and showing strong 18F-fluorodeoxyglucose (18-FDG) uptake (Fig. a). A three-dimensional conformal radiation therapy (3D-CRT) was conducted. The target volume was determined by CT. Lungs, heart, left coronary artery, and spinal cord were identified as organs at risk of accidental irradiation. The radiotherapy was delivered with linear accelerator of photons. The total dose amounted to 70 Gy, administered in 35 fractions of 2 Gy. The medium doses given to his esophagus and lungs were 23 Gy and 4.2 Gy respectively. The maximum dose delivered to his spinal cord was 31 Gy.
After 1 year of follow-up, no early or late toxicities related to the radiotherapy were observed: there was no dysphagia or weight loss.
PET-CT scans performed after 6 and 12 months of follow-up showed a complete response to the radiotherapy, with only a focal increased uptake at the level of superior pulmonary lobes, which referred to post-radiotherapy inflammation (Fig. b). |
pmc-6402165-1 | A 1-year old, female, mixed-breed dog was referred with unilateral, mucopurulent discharge from the left eye of 14 days’ duration. The ocular problem was acute in onset and developed after a walk in a meadow. The referring veterinarian had prescribed 0.3% tobramycin eye drops some days previously, but no ocular improvement had been apparent during this therapy. At ophthalmic examination, the dog showed an abundant mucopurulent to haemorrhagic discharge and a moderate conjunctival hyperemia in the left eye. No other ocular abnormalities were observed in this eye. The right eye did not show any abnormalities. The presumptive diagnosis was unilateral dacryocystitis due to a foreign body. |
pmc-6402165-2 | An 8-year-old, male, English setter was referred for bilateral conjunctivitis treatment. The ocular problem had been present for at least 12 months, and had started at the end of the hunting period. Unspecified topical antibacterial therapy had previously been performed. The owner had seen no improvement during this therapy. An abundant mucopurulent discharge associated with a severe conjunctival inflammation and a mild ocular mucous discharge with conjunctival hyperemia were observed in the left and right eyes, respectively. Nucleosclerosis was present in both eyes and ophthalmoscopic signs of a previous focal chorioretinitis were detected in the left eye. A presumptive diagnosis of bilateral dacryocystitis of unknown origin was made. |
pmc-6402165-3 | A 11-year-old, neutered male, Shih-tzu was presented with bilateral severe chronic ocular problems. The left eye showed buphthalmos, intraocular pressure elevation (35 mmHg), and chronic exposure keratitis with neovascularization and pigmentation. The problem started around 4 years prior to the ophthalmic examination, and no drug protocol had been previously performed in this eye. In the right eye, a moderate mucopurulent discharge, conjunctival hyperemia and superficial keratitis were present. Two fistulas were also detected, one in the margin of the right lower eyelid close to the medial cantus, the second on the skin at the level of the frontal region, between the two eyes. The problem of the right eye started with an ocular discharge 18 months prior to the ophthalmic examination, and the palpebral and skin fistulas had been observed for 6 and 4 months, respectively. The owner was unaware about the possible cause, and no drug protocol had been previously performed also in this eye.
Chronic glaucoma of the left eye, and suspicious complicated dacryocystitis of the right eye were diagnosed. On the basis of Schirmer tear test (STT)-1 readings, a diagnosis of moderate keratoconjunctivitis sicca was also formulated in the right eye. |
pmc-6402165-4 | A 4-year-old, female, Labrador retriever had an abundant mucopurulent and hemorrhagic discharge from the left eye of 7 months’ duration. The ocular problem was acute in onset and developed after a walk in the park. A conjunctival hyperemia and mild chemosis were also present. No other ocular abnormalities were observed in this eye. In the right eye ocular abnormalities were not found. The presumptive diagnosis was unilateral dacryocystitis of unknown origin.
A preliminary ultrasound of the palpebral medial cantus was performed in the eyes with the presumptive diagnosis of dacryocystitis to examine the superficial portion of the nasolacrimal system, before its entrance into the lacrimal bone. No attempts to flush the nasolacrimal system were performed before the ultrasonographic evaluation. An ultrasonographic device (Aplio 400, Toshiba, Japan) with multifrequency linear probe (Mhz 8–14) was used. The dogs were only manually restrained, and placed in sternal recumbence. The eye was maintained closed, and ultrasound gel was placed between skin and transducer surface. The area was examined by B-mode scanning in the sagittal and cross-sectional planes. In four out of the five examined eyes, a foreign body in the lacrimal sac was identified by ultrasound. In fact, in the case where the dacryocystitis was bilateral (case 2), the foreign body was identified only in the left lacrimal sac. The foreign bodies always appeared as linear spear-shaped hyperechoic structures with dimensions variable from 0.6 cm to 1.8 cm. In all cases a hypoechoic halo attributable to inflammatory fluid was present. In case 1 an edge shadowing originating in the surface of the hypo/anechoic tissue around the foreign body was identified (see Additional file ). In case three a draining tract between the lacrimal sac and the frontal region was also observed.
After identification of the foreign bodies, the dogs were anesthetized and, under ultrasonographic guidance, a Hartmann alligator forceps was inserted through the upper puncta, and directed toward the foreign body. The forceps was opened and the foreign bodies grasped and pulled out (see Additional file ). At the end of each procedure, a normograde lavage of the nasolacrimal system with 0.9% saline solution was performed. Topical tobramycin (Stilbiotic 0.3% eye drops, Ceva, Italy) q6h for 7 days, amoxycillin /clavulanic acid (Synulox, Zoetis Italia S.r.l., Italy) 12.5 mg/kg q12h PO for 7 days, and carprofen (Rimadyl, Pfizer Italia S.r.l., Italy) 2 mg/kg q24h PO for 7 days were prescribed. At the 21-day follow-up, ocular signs of dacryocystitis had disappeared in cases 1, 3, and 4. No information was available for case 2 because the dog was lost to follow-up.
The cases of the English setter (case 2) and the Shih-tzu (case 3) are reported in Figs. and , respectively. |
pmc-6402178-1 | In the last week of December (week 52 2018), a 68-year-old female patient with a history of chronic obstructive pulmonary disease consulted her primary care physician following 5 days of fever up to 40°C. On clinical suspicion of pneumonia, she was referred to a local hospital in Skåne County where she was hospitalised. A nasopharyngeal swab taken on the day of admission was positive for influenza A virus and the patient was treated with oseltamivir (75 mg, two times daily) for 5 days. She recovered quickly and was discharged 5 days after admission. The patient had not been vaccinated against influenza during the 2018/19 season.
Diagnosis of influenza A virus infection at the local hospital was performed by real-time PCR using Simplexa Flu A/B and RSV direct kit, (DiaSorin Molecular LLC, California, United States (US)). The sample was forwarded to the Clinical Microbiology Laboratory in Lund for subtyping (as are all influenza A virus-positive samples in Skåne County) with in-house real-time PCRs targeting H3 and N1pdm09 []. As this sample was negative in these assays, it was forwarded to the PHAS where influenza A(H1)pdm09 virus was detected by in-house real-time PCR. The presence of A(H1)pdm09 virus was also subsequently confirmed by Filmarray Respiratory Panel BioFire (Diagnostics LLC, Utah, US) at the Clinical Microbiology Laboratory in Lund. |
pmc-6402198-1 | The patient was a 31 y/o Gravida 3 Para 2 who presented to our center at 19-week gestation. She had two prior uncomplicated full term vaginal deliveries and received Rh immunoglobulin during and after each of her previous pregnancies. She has no significant past medical or surgical history.
During this pregnancy, her first trimester studies revealed an anti-D titer of 2048. The fetal status was noted to be RHD positive on amniocentesis.
On her initial evaluation at 19-week gestation at our center, the middle cerebral artery (MCA) Doppler revealed a peak systolic velocity (PSV) of 2.37 MoM. There was mild ascites and cardiomegaly.
After counseling the patient underwent the first in a series of combined intravascular/intraperitoneal intrauterine transfusions (see ). The ascites and cardiomegaly resolved after the second transfusion.
The fourth transfusion was complicated by an episode of transient bradycardia with spontaneous recovery after removal of the procedure needle from the umbilical vein. On a preoperative ultrasound prior to her sixth procedure, thrombosis of one of the umbilical arteries was noted (see ). A review of earlier ultrasounds indicated two patent umbilical arteries although visualization of the cord was not specifically undertaken postoperatively after the fourth procedure or before and after the fifth procedure. Based on the reassuring status of the fetus, a decision was made to continue serial intrauterine transfusions. Antenatal testing was initiated with weekly biophysical profiles and daily kick counts.
In addition to fetal anemia, this pregnancy was complicated by diet controlled gestational diabetes and mild polyhydramnios with an AFI of 29. The estimated fetal weight at 35 weeks ultrasound was 3193gms (87th %ile). She underwent a cesarean section at 37 weeks, delivering a 3480-gram male fetus in vertex presentation with APGARS of 8 and 9 at 1 and 5 minutes, respectively. After delivery the umbilical cord was examined and a 3-vessel cord with an intraluminal hematoma in one umbilical artery was confirmed. The hematocrit was 37% after birth. The total bilirubin was 9.9mg/dL and the direct bilirubin was 2.6 mg/dL. As per our neonatal protocols weekly hematocrit levels were monitored which remained above 30%; hence no transfusions were needed during this period. |
pmc-6402199-1 | A 46-year-old man presented with otorrhea, itching, and a foreign body sensation in his right ear. Otoscopic examination revealed a soft reddish protruding lesion at the posterosuperior portion of the entry to the right external auditory canal (). Computed tomography of the temporal bone showed a dense, protruding soft tissue lesion of the skin overlying the cartilage of the external auditory canal, but there was no evidence of the mastoid or middle ear lesions (). A tissue biopsy showed granulation tissue. Treatment with ointment containing gentamicin sulfate was ineffective. The skin lesion was endaurally resected; pathologic examination showed luminal structures in the middle to deep layer of the epidermis and inflammatory granulation below pseudoepitheliomatous hyperplasia (Figures and ). The walls of the luminal structures consisted of inner luminal secretory cells and outer myoepithelial cells (). These inner luminal secretory cells showed apical decapitation secretion.
The patient was diagnosed with an apocrine adenoma and pseudoepitheliomatous hyperplasia with inflammatory granulation. After surgery, otorrhea due to slight inflammatory granulation was prolonged. Therefore, additional resection of the posterosuperior portion of the ear auditory canal entry, including the cartilage over the bone, was conducted. The skin defect of the posterosuperior portion of the auditory canal was reconstructed using a postauricular island pedicle skin flap. The otorrhea and inflammation resolved. Three years after surgery, there has been no evidence of recurrence. |
pmc-6402200-1 | A 52-year-old woman with past medical history of diabetes mellitus type 2, atrial fibrillation, and hypertension presented with multiple, small, and reddish papular lesions on both lower extremities. She described these lesions as “bug bites” which rapidly progressed in size and number, involving most of her body in a matter of eight weeks. She had no other symptoms at this time. The patient underwent excisional biopsy of one of the lesions which showed diffuse infiltrate by atypical lymphoid cells. Flow cytometry and immunohistochemical studies showed these atypical cells as CD4+ T cells that expressed CD2, CD3, CD5, partial CD57, partial CD52, partial CD26, and alpha/beta receptors (). CD7, CD8, and CD30 were not expressed. These atypical lymphocytes had weak and focal expression for BCL2 but negative CD20 and BCL-6 expression. Myeloperoxidase (MPO), CD34, and CD117 were not expressed ruling out myeloid lineage malignancy. The proliferative rate by Ki-67 was moderate at 70%. Polymerase chain reaction (PCR) study for T-cell receptor gamma gene rearrangement was positive and for T-cell receptor, beta gene was oligoclonal. Terminal deoxynucleotidyl transferase (TdT) immunostaining was not performed. No metaphases were available for karyotyping. A final diagnosis of peripheral T-cell lymphoma NOS was made after evaluation by two different pathology centers. The lymphoma was limited to the skin with no involvement of bone marrow and lymph nodes or any extranodal organ/tissue as confirmed by a positron emission tomography (PET-CT). HTLV-1 and HIV blood testing were negative. The patient was treated with six cycles of CHOEP (cyclophosphamide, doxorubicin, vincristine, etoposide, and prednisone) and went into complete clinical remission. Posttreatment PET scan showed resolution of all the metabolically active skin lesions. She was then referred to our institution for consideration of autologous stem-cell transplant as consolidation.
Three months after completion of chemotherapy while undergoing pretransplant evaluation, the patient noticed a slightly raised, erythematous 2 × 1 cm lesion on the right lower quadrant of her abdominal wall (). Biopsy of this lesion showed neoplastic lymphocytes, demonstrating a similar immunophenotype as that was seen on the initial skin biopsy. However, both the dermatopathologist and hematopathologist noticed that the morphology of the lymphocytes appear to be blastic in appearance; therefore, immunostain for terminal deoxynucleotidyl transferase (TdT) was performed, which showed diffuse nuclear positivity in the lymphocytes, confirming lymphoblastic nature of these cells (). As such, a final diagnosis of T-cell lymphoblastic lymphoma was made. Fluorescence in situ hybridization (FISH) study revealed homozygous CDKN2A deletion (−9p21 × 2) and three intact copies of ABL1 (+9q34) (), which aided in confirming the final diagnosis. Subsequent bone marrow biopsy was negative for involvement by T-cell lymphoblastic lymphoma/leukemia. No suspicious foci of increased FDG uptake were noted on the PET-CT of the whole body. We also reviewed the original skin biopsy and performed immunostain of TdT, which was again diffusely positive in the neoplastic lymphocytes. Further, we repeated and compared the PCR studies for TCR gene rearrangement between these two skin biopsies using multiple master mixes target conserved regions within the variable (V) and the joining (J) regions for T-cell receptor gamma gene and conserved regions within the variable (V), diversity (D), and the joining (J) regions for T-cell receptor beta gene. In each biopsy, a clone (amplicon at 264 dp) in the V-J region of beta gene and another clone (amplicons at 201 dp and 220 dp) at the V-J region of gamma gene were identified; and the results appeared to be identical. Therefore, the diagnosis of cutaneous T-cell lymphoblastic lymphoma at initial presentation and at relapse was confirmed.
She was treated with high-dose methotrexate and cytarabine along with prophylactic intrathecal chemotherapy with cytarabine and methotrexate, with the plan of proceeding with allogeneic hematopoietic stem cell transplantation. Unfortunately, her disease progressed after 2 cycles of chemotherapy as evidenced by enlarging right lower abdominal wall lesion, now almost 15 cm wide and 11.5 cm in length with ulceration (). PET-CT showed hypermetabolic right lower abdominal wall subcutaneous lesion with associated reactive inguinal and external iliac lymphadenopathy. Repeat skin biopsy confirmed T-LBL, and chromosomal microarray (CMA) analysis performed using molecular inversion probes on a whole genome array showed multiple complex genomic alterations. Therapy was now switched to second-line nelarabine to obtain disease control before proceeding with allogeneic stem cell transplantation. The patient however had no response to nelarabine and her skin lesion kept progressing, for which she was referred to radiation oncology for palliative radiation to the ulcerated enlarging tumor. |
pmc-6402209-1 | A 60-year-old woman was initially brought to the emergency room by concerned family members. Her only past medical history is obesity, hyperlipidemia, and hyperthyroidism, for which she takes levothyroxine 75mcg and simvastatin 40mg. She also takes a daily aspirin 325mg. Family described that the patient had a sudden change in her behavior just prior to admission. There was no reported loss of consciousness or altered level of consciousness, just noting that she was acting “strange.” She was cooking at the time and suddenly left the food unattended on the stove. She appeared lost and seemed to have forgotten what she was doing. She remained generally oriented with no focal complaints, and there was no headache or pain. She could walk, and she had no weakness of any kind. There was no precipitating seizure and no incontinence. However, she was not following conversations and did not recognize her own sister who dropped by for dinner. En route to the hospital as well as in the emergency room, she kept asking the very same question, “where am I?” and “how did I get here?” Someone will offer the answer only to be met with the same questions minutes later. During her ER stay, she had a completely normal and non-focal neurologic examination. NIHSS score was zero. She scored 3/3 on registration but was unable to recall objects after a while. She had no idea how she got to the emergency room, but she is oriented to person and time. Her toxicology screen was negative. Blood pressure was 117/71 and patient was afebrile throughout her hospital course. Further work-up for altered mental status was unremarkable, chemistry and CBC were negative, GFR 113, and random sugar was 97. TSH was 5.96. There was no evidence of acute infection. Initial CT of the head was negative. She was admitted to the hospital for overnight observation. The next morning, patient was back to her baseline but still had no idea how she got to the hospital. The last event she recalled from the day prior was leaving the bathroom and walking towards her living room, apparently before she started cooking. She knew she had a complete lapse of memory and was concerned about developing dementia like her father. Her registration and recall returned to normal. Family at bedside also confirmed that she appeared to be at her baseline. Her repeat neurological examination that morning remained non-focal. MRI of the brain, however, showed a small DWI signal abnormality at the left cingulate gyrus (see Figures and ). No other lesions were noted. Stroke workup eventually showed no other abnormality and she was sent home on Plavix and Lipitor 80mg daily. |
pmc-6402212-1 | A 63-year-old man with chronic kidney disease presented with elevated baseline creatinine. He had no urologic symptoms and no history of flank pain or hematuria. Family history was notable for renal malignancy in the patient's grandmother. The physical examination was unremarkable, with no palpable flank mass or tenderness. Laboratory studies were notable for a creatinine of 2.02 (eGFR = 34 ml/min), up from a baseline of 1.60 (eGFR = 42 ml/min). Renal ultrasound revealed a 12 x 15 cm predominantly solid mass in the right kidney with internal cystic changes and central flow. In the left kidney renal ultrasound revealed a solid-appearing mass in the upper pole measuring 6.5 x 6 x 5.5 cm, a hypoechoic structure measuring 4.8 x 4.1 x 4.6 cm in the lower pole, and an adjacent 6.1 x 5.8 x 6.4 cm solid left lower pole renal mass with a small amount of central flow. Computed Tomography (CT) revealed a 14 x 13 x 16 cm right renal mass almost completely replacing the interpolar region, with significant mass effect on the right kidney (Figures and ). Adjacent tissue nodularity in the perinephric fat was concerning for satellite nodules or metastatic disease (). Right retroperitoneal adenopathy measuring 2.4 x 2.7 cm at the level of the renal hilum was identified. In addition, multiple 2-3 cm hyper- and isodense indeterminate soft tissue lesions were identified in the right kidney. The left kidney was notable for multiple solid renal masses measuring 6.3 cm at the upper pole and 4.6 cm at the interpolar region (). A left paraaortic soft tissue mass measuring 4.6 x 4.6 cm with associated calcification was concerning for adenopathy (). Whole body positron emission tomography (PET)/CT imaging was obtained to evaluate for metastatic disease. PET/CT revealed bilateral metabolically active solid renal masses concerning for malignancy and metabolic activity in a left paraaortic soft tissue mass concerning for lymphadenopathy. Magnetic resonance imaging (MRI) revealed no evidence of inferior vena cava thrombus.
The patient was discussed in a multidisciplinary oncology meeting and the decision was made to proceed with surgical extirpation of the right kidney and the paraaortic mass. We performed an open right radical nephrectomy with right retroperitoneal lymph node dissection and excision of left paraaortic mass.
Grossly, the right kidney contained a spherical, encapsulated, and homogenous maroon-colored mass with a gray-white lobulated central scar (). Two additional smaller masses with similar gross appearance but without central scar were also present. Histologic examination revealed nests of round and polygonal cells with granular, eosinophilic cytoplasm () consistent with oncocytoma. Immunohistochemical staining of the right renal mass with colloidal iron, CD117, CK7, RCC, and CD10 was performed. The tumor cells were positive for CD117, CK7 (), and weakly positive for CD10. The tumor cells were negative for Hale colloidal iron and RCC.
Cross sections of the left paraaortic mass revealed a smooth, encapsulated mass with a pearly and glistening tan-white surface (). Histologic examination revealed multiple regions of cystic degeneration, positive staining for S100, and Antoni A and Antoni B areas. The final pathologic diagnoses were renal oncocytoma and left paraaortic ancient, benign schwannoma. |
pmc-6402214-1 | A 29-year-old male (weight: 58 kg, length: 178 cm, BMI: 18.3 kg/m2; BMI normal range: 18.5 kg/m2 – 25 kg/m2), without significant past medical history, presented at the ED with chest pain and localised neck tenderness. He presented with sudden onset retrosternal chest pain. The pain was described as “mild and continuous” with no radiation or any other associated symptoms (i.e., no dyspnea or cough; no nausea or vomiting). There was no history of preceding trauma, and the patient had no previous medical history of note. Apart from a 5 pack-year history of smoking cigarettes, there were no other cardiovascular risk factors.
The patient did not take regular medication but admitted to marijuana use on a weekly basis as a teenager until the age of 25. He then only used marijuana infrequently (on average once a month). With regard to cocaine, he admitted he had used it twice—the first being a year ago, and the second time a day prior to attending the ED. There was no history of any other recreational drug use.
Following intranasal cocaine inhalation at an evening social gathering, he suffered chest pain and palpitations. In an attempt to ease the chest pain, he smoked a premixed marijuana/tobacco joint (approximately 0.32 grams marijuana []). The joint was smoked as per a normal cigarette technique without prolonged inhalation or Valsalva manoeuvres.
The following morning, he continued to experience retrosternal chest pain, which had since increased in intensity. He now noticed the presence of right-sided neck pain but without muscle tenderness, throat pain, or dyspnea. Despite taking 1 gram of paracetamol, the symptoms were no better and he therefore presented to the ED.
His vital signs were within normal parameters (temperature: 36.1°C, heart rate: 65 bpm, blood pressure: 125/75 mmHg, equal bilaterally with no pulsus paradoxus, respiratory rate: 13/min, oxygen saturation 100% on room air with a GCS of 15/15).
On physical examination, respiratory auscultation was normal without additional sounds; cardiac sounds were unremarkable with no murmurs or clear “Hamman's sign” (a crunching sound synchronous with the heartbeat. It is best heard over the precordium and is suggestive for pneumopericardium or -mediastinum) [–]. A moderate amount of subcutaneous emphysema on the right side of the neck was noted. The rest of the physical exam was unremarkable.
Blood analysis was normal (normal haematology and biochemical analysis, normal inflammatory markers and troponins <0.012 ng/mL). Arterial blood gas on room air demonstrated a respiratory alkalosis without metabolic compensation (pH 7.50, pCO2 29.3 mmHg, pO2 119.7 mmHg, base excess 0.3 mmol/L, HCO3− 22.2 mmol/L, saturation 98.2%, and lactate 1.3 mmol/L). ECG demonstrated normal sinus rhythm without ST-elevation with normal repolarisation. A chest X-ray showed subtle evidence of pneumomediastinum and right-sided mild subcutaneous emphysema in the neck (, thick arrow) with air tracking in the centre of the mediastinum (, thin arrow). There is a small denser line along the right cardiomediastinal margin () that is often present in normal X-rays and is attributed to an optical illusion known as the Mach Band effect (a visual pattern due to edge enhancement manifesting as a region of lucency adjacent to convex surfaces). Although it can be normal, taken in association with subcutaneous emphysema and air tracking in the centre of a mediastinum, this is suggestive of a pneumomediastinum [].
As subcutaneous emphysema along with the suggestion of pneumomediastinum was identified on the chest X-ray, further workup with thoracic CT-scan was performed. This confirmed the presence of subcutaneous emphysema with a pneumopericardium, a large pneumomediastinum, and a small pneumothorax (, ). The patient was managed conservatively and kept overnight for observation (continuous cardiac and pulse oximetry monitoring with two-hourly blood pressure measurement in addition to pain control titrated to a pain Visual Analogue Scale). A combination of paracetamol and tramadol was sufficient to keep the patient pain free. The following day, his clinical parameters remained within normal limits along with the resolution of chest pain and a largely unremarkable physical examination. He was discharged the next day with expectative approach, oral analgesics, and ambulatory follow-up. Repeat CT after two weeks revealed complete resolution of the free intrathoracic air. |
pmc-6402215-1 | A 50-year-old Hispanic female presented to the emergency room (ER) with complaint of severe headache for 1 day. The headache was described as throbbing with associated photophobia and multiple episodes of nonbloody vomiting. She reported a remote history of closed head trauma and intermittent rhinorrhea, especially on leaning forward, with spontaneous resolution a few months prior to this presentation. Her medical history was significant for intermittent “migraine” and coronary artery disease. Physical examination was notable for photophobia, otherwise no nuchal rigidity or focal motor or sensory neurological deficits; the rest of the examination and vital signs were unremarkable. Laboratory parameters revealed hemoglobin 11.6 g/dl, white cell count (WBC) 13.1 × I09/1 (84.7% neutrophils), serum sodium 138 mEq/l, potassium 4.1 mEq/l, and creatinine 0.7 mg/dl; all liver function tests were within normal limits.
She was admitted to the medical floor where a lumbar puncture was performed with an opening pressure of 35 cm H2O, CSF fluid analysis with WBC 1850 cells/uL (segmental 70%), red blood cells 5, protein 175 mg/dl (normal 15–45), glucose 40 mg/dl (normal 40–70), cryptococcal CSF antigen detected with a titer of 1 : 1024 (normal < 1 : 2 titer), negative bacterial antigen, and no growth on bacterial CSF culture. Patient also had a negative HIV serology confirmed by nondetectable HIV ribonucleic acid (RNA) and an absolute CD4 count of 1168.
With the patient's history suspicious for traumatic CSF leak, she had a magnetic resonance imaging (MRI) of the head and sinus that were both unrevealing. Given the low sensitivity of a regular MRI in CSF leak diagnosis, a computed tomography (CT) cisternogram was performed. It revealed evidence of leakage of intrathecally injected contrast into the right nasal cavity via the right olfalctory fossa, between the anterior ethmoidal cells and the crista galli bone (). This was also confirmed by scanning the gauzes inserted intentionally into both right and left nares by the author (C.I.) during real-time CT cisternogram (). This first-time-used innovative, inexpensive, and efficient CT technique confirmed without any doubt the presence of leaked contrast from the opacified CSF in the right nostril gauze when compared to contralateral side; this could have a tremendous role in the preoperative planning, intraoperative performance, and postoperative outcomes.
She was initially started on antimicrobial treatment for presumptive bacterial meningitis and later transitioned to induction therapy for cryptococcal meningitis with liposomal amphotericin B and flucytosine (5-fluorocytosine) after preliminary results of her CSF analysis were obtained. Patient subsequently had an endoscopic-assisted transnasal repair of CSF leak with abdominal fat graft using brainlab navigation system by combined neurosurgical and ear, nose, and throat (ENT) teams. With completion of 2 weeks of induction therapy with liposomal amphotericin B and flucytosine, she demonstrated clinical improvement, and two repeat lumbar punctures during the course of admission showed normalized opening pressure and negative cryptococcal antigen. Fluconazole was then started for consolidation, and she was followed-up on discharge in the outpatient clinic until completion of an 8-week course of fluconazole. Patient has remained symptom free two years after completion of treatment. |
pmc-6402219-1 | A 51-year-old man presented to our hospital due to symptoms of myelopathy. He had been undergoing hemodialysis due to chronic kidney failure associated with nephrotic syndrome for over 10 years. He complained of numbness in the extremities and clumsy hands, and he was unable to walk without assistance. Spastic gait disturbance associated with increased muscle tonus was observed, and his serum CK level remained slightly high (315 U/l). Cervical laminoplasty was performed for cervical myelopathy related to cervical DSA (). The postoperative course was uneventful. His numbness and clumsy hands improved, and he became ambulatory.
Two months after the initial surgery, however, his condition started to deteriorate. He developed unusual intractable pain throughout his whole body, and cramp-like muscle pain was observed paroxysmally and frequently with severe spasticity. Regarding the pain intensity, the numerical rating scale (NRS) score (wherein 0 = no pain and 10 = the worst pain), painDETECT score [], and neuropathic pain symptom inventory (NPSI) [] were 10, 28, and 79, respectively.
While his pain was partially relieved by the administration of ketamine, his symptoms were disabling and not sufficiently managed by conservative treatment. Plain radiographs showed the progression of destructive changes at the C4/5 and C5/6 levels. A marked progression of kyphosis of the subaxial spine was noted with a C2-7 angle of -53° (). A laboratory examination revealed that his serum level of CK was extremely high (999 U/l). With a marked elevation of CK, we first consulted neurologists and nephrologists regarding the possible underlying pathology. The differential diagnosis included myopathy, an electrolyte imbalance, and an adverse drug reaction; however, the cause of the patient's condition remained unclear. Therefore, we performed additional surgery to resolve the deteriorated destructive changes in the cervical spine, which we assumed to be potentially responsible for his symptoms. In the first stage of surgery, cervicothoracic posterior spinal fusion was performed from C2 to T2 using pedicle screws at the C2, C3, C7, T1, and T2 vertebral levels. In the second stage of surgery (10 days after the first stage), anterior spinal fusion was performed from C3 to C7 with an autologous iliac bone graft and a titanium plate ().
The patient's intractable pain disappeared within 2 weeks after surgery. On comparing the pain intensity between before and after the two-stage surgery, the NRS score improved from 10 to 1, the painDETECT score changed from 28 to 10, and the NPSI score changed from 79 to 10. The serum level of CK was also normalized after the two-stage surgery (). At 10 months after surgery, he was able to walk without any support. The patient and his family were informed that data from the case would be submitted for publication and gave their informed consent. |
pmc-6402233-1 | A 50-year-old male was brought to the emergency department after he jumped from a 5-meter bridge in an attempted suicide and fell on the hard concrete below. Upon admission, the patient was agitated, disoriented, and in intense respiratory distress. Examination revealted that the patient’s airway was clear, but there was a bilateral absence of breath sounds and hyperresonance on percussion. The patient was hemodynamically stable. He was intubated due to respiratory failure. Bilateral chest tubes were inserted based on a high clinical suspicion of pneumothorax. Thereafter, the patient developed a large subcutaneous emphysema, despite the fact that the chest tubes were functioning with his severe air leakage. Past medical history was unremarkable with no previous formal depression diagnosis. A social history check showed daily marijuana and tobacco use.
The patient was sent for a head, neck, thorax, abdomen, and pelvis CT scan. The scan revealed giant bullous emphysema on the superior lobes bilaterally, right pneumothorax with a collapsed lung, along with multiple rib fractures, and lung emphysema (, ). A hip dislocation was detected, and closed reduction was performed.
The patient was sent to the ICU, where he improved clinically after conservative treatment with continuous negative pressure suction using a 20 cm water column. He was extubated after 48 h, with persistence of the air leakage on both chest tubes.
On the day following extubation, he developed hypoxia associated with disorientation and agitation and had to be intubated again. Hypoxia was postulated from pulmonary contusion and ventilator-associated pneumonia worsening his already baseline compromised lung. He developed sepsis, and subsequently acute kidney injury with the need for dialysis.
During the course of 5 days, the patient presented hypoxia and a severe mixed metabolic and respiratory acidosis, despite the use vancomycin and piperacillin/tazobactam. The treatment with bilateral chest tubes associated with continuous negative pressure aspiration did not correct the air leakage, which caused an important lost of tidal volumes on the ventilator. Changes in ventilator parameters (increases in PEEP, tidal volumes, etc.) did not improve his oxygenation or decrease his pCO2. In an effort to expand his lungs and improve his ventilatory function, we decided to perform a bilateral bullectomy.
As the patient had poor surgical status, only a right bullectomy was performed 8 days after the trauma. The right side was chosen over the left, because it showed more compression and a larger residual, healthier parenchyma. After surgery, the right side fistula was resolved (). Four days after surgery, the patient developed a right-sided empyema, right lung incarceration, and blood clots in the chest tube (). In order to resolve these issues, videothoracoscopy and decortication of the right lung were performed, which resulted in the resolution of these problems () and improvement in ventilatory parameters with conservative treatment for the left lung. Notwithstanding antibiotic treatment and successful surgical interventions, the patient died on the 25th day of hospitalization due to infectious complications. |
pmc-6402280-1 | A 47-years-old woman with diabetes mellitus presented to our department with severe abdominal pain and fever. The local hospital’s computed tomography showed massive mural thrombosis in the thoracic and abdominal aorta from the level of the diaphragmatic muscle to the superior mesenteric artery (Fig. ). The spleen had a large area of infarction complicated by portal venous thrombosis. This patient underwent amputation three years ago due to extensive thrombosis of the left upper extremity artery. Further examination in our hospital showed thrombosis in the portal vein, the superior mesenteric vein and the splenic vein. Laboratory examination showed the following: prothrombin time 10.9 s, D-Dimer 1.030 μg/mL, C-reactive protein > 200 mg/mL, erythrocyte sedimentation rate 99 mm/h, NH3 73.5 μmol/L. Rheumatic immune tests, liver function, kidney function and electrolytes were normal, except for an albumin of 25.6 g/L.
Preoperative preparation and intraoperative procedures were carefully performed to improve the success rate and to reduce the risk of thrombus shedding during intervention. The catheter and guide wire was placed in the mesenteric artery and left renal artery via left femoral artery puncture, so that balloon angioplasty or stent implantation could be performed immediately once those branch vessels were blocked by shedding thrombus. Written informed consent was obtained from the patient for the use of RFS and the right femoral artery was incised to implant the RSF. The aortic thrombus was successfully compressed and fixed without thrombosis during intervention (Fig. a, b). A transjugular intrahepatic portosystemic stent shunt (TIPSS) procedure was conducted and a thrombolytic catheter was inserted in the portal vein for thrombolysis (Fig. a, b). Urokinase 100,000 units (Lizhu pharmaceutical Co., Ltd., Guangdong, China) was dissolved in 50 ml of normal saline, and given by microinfusion pump every 8 h. Warfarin sodium tablets 3.75 mg (Qilu pharmaceutical, Shangdong, China) were taken orally once a day after the procedure. In addition, 1000 units of heparin sodium (Fengyuan pharmaceutical co., Ltd., Anhui, China) and 0.6 mg of octreotide (Chinese medicine & pharmaceutical co., Ltd., China) were dissolved in 50 ml of normal saline and given by microinfusion pump every 12 h. Omeprazole 40 mg (Changchun Fuchun Pharmaceutical Co., Ltd., Changchun, China) and levofloxacin 0.6 mg (Yangzijiang Pharmaceutical Group Co., Ltd., Jiangshu, China) were administrated intravenously once a day.
Relief of the patient’s abdominal pain was evident 3 days after the interventional procedure, and pain resolved completely after 15 days. Angiography showed that the abdominal aortic thrombus was mostly dissolved, with only a few residual thrombi. A 12 F sheath was introduced through the guide wire and the RSF was retrieved (Fig. c, d). Catheter angiography confirmed an recovery of portal vein thrombosis via indwelling catheter. Portal vein thrombosis almost completely disappeared and the patient was discharged after 16 days (Fig. c). She received oral warfarin sodium 100 mg per day for anticoagulation with an international normalized ratio of 2–3. One month later, the bilateral renal artery, superior mesenteric artery, lower extremity artery and portal vein were well visualized, without thrombosis. The upper abdominal aorta was normal with a small amount of residual thrombus. The patient appears normal and no complications have occurred after 14 months. |
pmc-6402369-1 | A 46-year-old female patient diagnosed with schizoaffective disorder (this case was already described as part of a case series in Methfessel et al.(); written informed consent for the publication of the case report was obtained from the patient's legal guardian) was transferred to our department from another psychiatric hospital where she had been treated for almost 2 years. She presented with persisting symptoms of severe psychomotor agitation, motor and verbal stereotypies, mutism, posturing, negativism, and anxiety. There were several suicide attempts in the course of her illness. As different pharmacological treatments had already failed (including lorazepam, clozapine, several other second generation antipsychotics, venlafaxine, valproic acid), we established ECT and the patient showed a marked response after only two treatment sessions. However, the patient experienced frequent relapses, sometimes only a few hours after the last ECT session. ECT was thus given daily for 1 week and then the frequency was reduced depending on the clinical picture. Despite a weekly continuation ECT and concurrent pharmacotherapy with clozapine, lorazepam, and venlafaxine, we were not able to achieve a sustained response and discharge from hospital was not possible. In this situation, we decided to offer VNS to the patient and her legal guardian as an individual clinical trial. The rationale of this (to the best of our knowledge) first-ever treatment trial of VNS in catatonia is described below. The VNS device was activated 1 day after implantation and over the next few weeks the following settings were established: output current 2.0 mA, pulse width 250 μs, signal frequency 20 Hz, on- time 14 s, off-time 0.5 min. Consistent with the known latency of the clinical effect in major depressive disorder, we observed a gradual but marked improvement of the patient's symptoms during the next 4 months (Clinical Global Impression Scale, global improvement: 2 [much improved], efficacy index: 2 [decided improvement, partial remission of symptoms]). By this time, the patient was discharged from hospital and remained stable for a few months with a nearly complete remission of catatonic symptoms. For the time being we observed a fluctuating course with temporary reoccurrence of catatonic symptoms, mostly in the context of psychosocial stress. Due to the duration and severity of her illness episode and the frequent relapses she had experienced, an intense maintenance therapy was established including VNS, weekly maintenance ECT and pharmacotherapy. |
pmc-6402535-1 | A 51-year-old female (weight: 73.5 kg; height: 160 cm) with ARDS secondary to aspiration pneumonia was placed on VV ECMO using a single 27 Fr Avalon cannula to the right internal jugular vein. Her peak airway pressure was 46 cm H2O, even with low tidal volume (200 ml) ventilation, and eventually, she was unable to ventilate safely due to decompensated compliance. HFOV with a frequency of 300 bpm and 5 Hz was introduced on ECMO Day #16 to decrease the risk of volutrauma while also preventing atelectasis from hypoventilation. Her mean airway pressure (mPaw) became 29.3 cm H2O with HFOV, which comparatively had been 16 cm H2O on the conventional ventilator. At the time of transition to HFOV, her settings were: ECMO flow 4.56 L/min, Sweep 6 L/min, FiO2 70%, with ventilator FiO2 50%. Approximately two hours later, the patient desaturated requiring FiO2 100% on both the ECMO and HFOV to maintain an O2 saturation (SaO2) of 85%, although the ECMO flow was maintained at 4.5 L/min. These same settings were continued before a flash of bright red, oxygenated blood was noted flowing into the venous return lumen of the Avalon cannula which synchronized with each beat of the oscillator (Video ).
The correct placement of the Avalon catheter and endotracheal tube were confirmed by chest x-ray, and an echocardiogram further confirmed the cannula position (the tip in the inferior vena cava and the access lumen facing the tricuspid valve), as well as ruled out a patent foramen ovale or an atrial septal defect. Inter-atrial shunting within the Avalon cannula was diagnosed, and the ECMO flow was increased above 5.5 L/min to overcome the additional resistance. This provided a resolution of the retrograde shunt. Despite all efforts, this patient, unfortunately, expired due to multi-organ failure. Her family elected to withdraw care after a total of 20 days on ECMO and four days on HFOV. |
pmc-6402730-1 | A 13-year-old female visited a physician in January 2007 for the evaluation of passing out associated with laughing. According to the records, the patient underwent a magnetic resonance imaging (MRI) of the brain with and without contrast, along with an electroencephalogram (EEG), in October 2007 for an evaluation pertaining to a chronic headache and generalized weakness resulting in syncopal episodes triggered by laughter. The results of these diagnostic studies were unremarkable. The patient was seen by a neurologist on September 26, 2007, for persistent symptoms of losing muscle tone triggered by a strong emotional response. The neurologist suggested that the patient should undergo a magnetic resonance angiogram (MRA) of carotid arteries because the symptom of “laughter leading to loss of muscle tone, resulting in the patient losing control and falling” may suggest syncope of a cardiovascular etiology. Furthermore, neurologist records suggest that the patient experienced four episodes of laughter leading to loss of muscle tone while she was at Disneyland, a week later. Lastly, the neurologist concluded his consultation by suggesting that no further workup was needed. Subsequently, the patient underwent an echocardiogram on October 1, 2007, to investigate her continued “syncopal episodes.” According to records, the cardiologist felt that the patient might have vasovagal syncope thus requiring an MRA and MRI of the neck followed by a Holter monitor. The results were all within normal limits as reported by the patient and her mother. Although the cardio-neuro workup was inconclusive, the patient continued to have chronic symptoms and, therefore, sought initial consultation with a sleep specialist.
The patient was seen by our practice on January 11, 2008, and was referred for a nocturnal polysomnogram (NPSG) and a multiple sleep latency test (MSLT) to investigate a probable diagnosis of narcolepsy due to exhibited signs of narcolepsy with cataplexy, sleep paralysis, excessive daytime sleepiness and hypnagogic hallucinations. The PSG results suggested a total sleep of 436.7 minutes with a sleep efficiency of 93 percent (n=89%). Moreover, rapid eye movement (REM) and sleep latencies were 94.5 minutes (n=136-156) and 10 minutes, respectively. The PSG revealed that the patient experienced one obstructive apnea lasting for 11 seconds, five central apneas, and 11 hypopneas with an apnea/hypopnea index of 2.3, which is normal. The patient verbalized not being able to move or talk during sleeping. The patient underwent an MSLT study in February 2008, which revealed a mean sleep latency (MSL) of 4.3 minutes on three 20-minute naps. The diagnostic criterion requires an MSL of ≤8 minutes and ≥2 sleep onset REM periods (SOREMPs) on MSLT. Since our patient satisfied the MSL and SOREMP components on three naps, continuing the study was not needed. Records indicate that the patient had an average sleep lasting 15 minutes, REM sleep lasting five minutes, and eight minutes average latency to REM sleep on the MSLT. A normal REM cycle occurs every 90 minutes after sleep onset, the first REM period lasts 10 minutes with each recurring REM stage lengthening. In addition to the sleep study, laboratory workup for HLA-DR15 and DQ0602 was positive, thus further supporting the diagnosis of narcolepsy.
As the patient was undergoing further studies to confirm her diagnosis, her condition and symptoms became common knowledge among her peers, which led her to be ostracized by fellow students. The situation escalated quickly to the point of feeling like she was bullied on a daily basis. Ultimately, she switched school, which added emotional stress to her life. |
pmc-6402731-1 | A 24-year-old female patient in her 35th week of gestation presented to the medical out-patient department with complaints of loose stools not associated with blood, with a frequency of 10 times a day for the past two days. The patient gave a history of two episodes of vomiting and pain in the abdomen. There was no history of fever, rash, burning micturition, white discharge, and vaginal bleeding. The first and second trimesters were uneventful. The patient gave a history of appendectomy five years back. General physical examination was normal. Complete blood picture revealed mild anemia (hemoglobin: 9.5 g%) and there was no eosinophilia. Ultrasound revealed single live intrauterine fetus (SLIUF) in cephalic presentation with a mean gestational age of 35 to 36 weeks and mild polyhydramnios. Stool examination for intestinal parasites and for the presence of occult blood was advised. Direct stool examination using a simple wet mount with saline and iodine mount revealed eggs/ova that morphologically resembled H. nana, as shown in Figure .
On an average, there were around two eggs per a high-power field (40X) indicating heavy infestation. Stool for occult blood was negative. The patient was advised a single dose of albendazole (400 mg) []. A repeat direct stool examination after two days of treatment revealed no eggs but showed the adult forms, as shown in Figure .
In view of mild polyhydramnios, the patient was advised to get admitted in the hospital for close observation. But the patient decided to leave the hospital against the physician’s advice. |
pmc-6402733-1 | A 34-year-old woman with no significant past medical history presented with the chief complaint of left facial numbness, left ear pain and decreased hearing in the left ear of three years duration. The patient had also been experiencing sharp and shooting pain in different areas of her left thigh. The pain was not associated with any weakness, tingling or numbness. Besides mild fatigue she denied having any fevers, night sweats or weight loss. Neurological physical examination was grossly intact except for sensory loss in the V2 (maxillary) and V3 (mandibular) distribution of trigeminal nerve (cranial nerve V). Abdominal exam was without evidence of lymphadenopathy and hepatosplenomegaly. Given deficits in the sensory distribution of trigeminal nerve, she was initially evaluated by ear, nose and throat (ENT) and underwent two sequential minimally invasive surgeries for nasal polyps without significant resolution of her symptoms. She was subsequently referred to a neurologist and had magnetic resonance imaging (MRI) of the brain performed. Brain MRI revealed a soft tissue mass with expansion in the left Meckel’s cave, measuring 22 x 16 x 12 mm (Figure ), raising concerns for a trigeminal schwannoma. She was evaluated by the neurosurgery and underwent an orbital zygomatic craniotomy and left trigeminal schwannoma resection. Pathology revealed deposition of abundant hypocellular eosinophilic material on light microscopy examination (Figure ). Congo red staining demonstrated characteristic 'apple-green birefringence' upon polarization (Figure ), consistent with diagnosis of trigeminal nerve amyloidoma. Unfortunately, no immune fluorescence or electron microscopy was done on the pathology specimen to determine the amyloid subtype. Postoperatively, the patient was referred to oncology to rule out systemic amyloid deposition. Basic workup including complete blood count was unremarkable except for hemoglobin of 12 g/dL with mean corpuscular volume (MCV) of 76 fL per cell. White blood cell and platelet counts were within normal limits. Comprehensive metabolic panel did not reveal any liver or renal abnormalities. Coagulation profile including prothrombin time (PT), activated partial thromboplastin time (APTT), international normalised ratio (INR) was normal. The patient had both serum and urine protein electrophoresis with immunofixation done which did not reveal any monoclonal protein. Serum free light chains were normal with kappa free light chain 16 mg/dL, lambda free light chain 12 mg/dL and kappa lambda free light chain ratio of 1.36. Urinalysis was without evidence of hematuria or proteinuria. Electrocardiogram (EKG) revealed normal sinus rhythm. Two-dimensional (2D) echocardiogram revealed ejection fraction 60% and normal ventricular wall thickness. Abdominal fat pad biopsy as well as a bone marrow biopsy was performed and both were without evidence of amyloidosis or other plasma cell dyscrasia or lymphoproliferative disorder. The patient was not offered any more localized and systemic therapy with follow-up brain MRI three months after surgical resection without evidence of recurrent amyloidoma. |
pmc-6402739-1 | A 54-year-old Caucasian man presented to the hospital with a rash of one year's duration. He had no significant past medical history, apart from moderate daily beer intake and one-pack-per-day cigarette smoking. A pruritic maculopapular rash first developed in his left lower extremity and later became generalized. He had been so far treated for scabies, dry skin, allergies, and cellulitis. He had visited multiple urgent care clinics, dermatologists, and infectious disease specialists without any solution to his predicament. Skin biopsies had only shown external trauma and excoriations. His ambiguous disease had now caused him dysphagia and weight loss.
His initial vital signs revealed a blood pressure of 115/78 mmHg, heart rate 120/m, sinus rhythm, respiratory rate of 18/m, temperature 98.1° F, and oxygenation saturation of 98% on room air. On examination, he was found to have a purulent nasal discharge, oropharyngeal thrush, tonsillar enlargement, foul breath, and maxillary sinus tenderness. He had generalized lymphadenopathy. Skin examination revealed a generalized rash involving the oral mucosa, face, palms, and soles. The rash was papulosquamous on his back. He had coin-shaped lesions on his legs and arms (Figure ). The skin on the palm and soles was macerated.
Investigation
Laboratory studies revealed a normal complete blood count, basic metabolic panel, and liver function tests. Blood cultures were negative. The human immunodeficiency virus (HIV), rapid plasma reagin (RPR), herpes zoster culture, a fungal antigen, rheumatoid factor (RF), antinuclear antibody (ANA), cytoplasmic antineutrophil cytoplasmic antibody (C-ANCA), perinuclear antineutrophil cytoplasmic antibody (P-ANCA), and atypical P-ANCA were all negative.
Computed tomography scans of the chest, abdomen, and pelvis with contrast, obtained to further evaluate the generalized lymphadenopathy, showed the extensive burden of adenopathy in bilateral axillary regions, mediastinum, retroperitoneum, and both iliac chains into the inguinal regions.
Duodenal compression at the third and fourth segment was seen with possible additional wall-thickening, raising concern for lymphomatous involvement.
Diagnosis
Inguinal lymph node and skin biopsies were done. The inguinal lymph node biopsy revealed extensive tumor necrosis. Immunohistochemical stains were positive for CD3, CD30, and BCL2 and were negative for EMA, CD 20, CD45, and PAX5 (Figure ). Flow cytometry showed a large population of abnormal T-cells which made up 88% of the total cells. These cells were moderately positive for CD2, CD3, and CD5, weakly positive for T-cell receptor (TCR) alpha/beta, and partially positive for CD11c, CD25, CD30, and CD57. They aberrantly lacked CD7 and were CD4 and CD8 dual-negative. CD56 was also negative. The CD3 positive normal T-cells was 9% of the total cells without the loss of pan-T-cell antigens. The CD4: CD8 ratio was 1.6:1. The CD19 and CD20 positive B-cells were 1% of total cells. It was consistent with CD30-positive peripheral T-cell lymphoma.
A skin biopsy from the right thigh showed atypical T-cell lymphoid infiltrate, including many CD30+ cells. Under the acanthotic and partially ulcerated epidermis, there was a dense monotonous lymphocyte infiltrate in the dermis. The lymphocytes showed significant cytologic atypia and perivascular accentuation. Immunostains showed the infiltrates were composed of mostly CD3+ T-lymphocytes with an increased CD4/CD8 ratio and reduced CD7 expression. Many of these lymphocytes were CD30+. There were also numerous CD1a+ dendritic cells in the epidermis and CD68+ histiocytes in the dermis. Only a few CD20+ B-lymphocytes and CD138+ plasma cells were present. Eosinophils were absent, and no evidence of vasculitis was seen.
The above histopathological findings and the immunophenotypical results, along with the patient's history of lymph node CD30+ lymphoma was consistent with the cutaneous involvement of CD30+ T-cell lymphoma.
A bone marrow biopsy did not show the involvement of lymphoma. He was diagnosed with Stage IV PTCL-NOS.
Management
The patient was started on chemotherapy with cyclophosphamide, doxorubicin, etoposide, vincristine, and prednisone (CHOEP). He had improvement in the skin rash and lymphadenopathy after two cycles. His disease course was complicated by gastrointestinal bleeding from a duodenal perforation. He did not survive to finish the planned course of chemotherapy and succumbed to sepsis and respiratory failure. |
pmc-6402740-1 | A 50-year-old female with a past medical history significant for idiopathic thrombocytopenic purpura (ITP) presented with chief complaint of back pain for three weeks. Prior to her presentation, the patient was undergoing treatment for ITP wherein she had received four doses of weekly rituximab and recently completed a prednisone taper. A computed tomography (CT) scan of the abdomen and pelvis showed bilateral renal masses (6.6 x 4.2 cm on the right, 6.3 x 5 cm on the left) with upper para-aortic and right retro-crural lymphadenopathy (Figure ). Upon chart review, it was noted that the abdominal ultrasound done seven months prior to admission (for thrombocytopenia workup) was negative for renal masses. She was admitted for evaluation; laboratory workup showed white blood cell count 10.55 TH/uL, hemoglobin 12.3 g/dL, and platelet count 113 TH/uL. Her kidney function and liver function tests were normal. Lactate dehydrogenase was elevated at 763 IU/L (range 313-618). A CT guided biopsy of the left renal mass showed DLBL (Epstein-Barr virus (EBV) negative, fluorescent in situ hybridization (FISH) negative for MYC rearrangement, but 71% of interphase cells showed three copies of an intact MYC (8q24.1), 65% positive for rearrangement of BCL6, no BCL2 fusion). Bone marrow biopsy and flow cytometry were negative. Positron emission tomography (PET)/CT showed left supraclavicular and retroperitoneal lymphadenopathy (standardized uptake values (SUV) 10.8 and 15.7 respectively) with hypermetabolic bilateral renal masses (SUV 15.3 and 17.5 on right and left respectively) (Figure ). Lumbar puncture cytology was negative. Given these findings, she was staged IVB and received intrathecal methotrexate for central nervous system (CNS) disease prevention. The next day, the patient was started on dose-adjusted rituximab, etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin (DA-REPOCH) chemotherapy regimen. She completed six cycles of DA-REPOCH and intrathecal methotrexate with no evidence of disease on repeat imaging (Figure ). She continues to follow up with oncology clinic for observation and is in complete remission at one year. |
pmc-6402743-1 | A 28-year-old female presented with multiple bilateral breast lumps for eight years. The lumps were mobile, non-tender, and slowly growing. On examination, multiple freely mobile lumps in both breasts (eight on the right side, four on the left side) with well-defined margins, firm consistency, and a smooth surface were identified. There was no tenderness or local rise in temperature, no history of ulcers, puckering, dimpling, or swelling. They were not associated with any change during the menstrual cycle. There was no family history of breast carcinoma. Ultrasonography (USG) showed multiple hypoechoic lesions suggestive of fibroadenoma (Figure ).
Similarly, fine needle aspiration cytology (FNAC) showed multiple cohesive clusters of branching papillary fronds suggestive of fibroadenoma (Figures -).
The patient underwent lumpectomy, and the excised specimens were sent for histopathological examination. Gross examination of the excised specimens showed multiple, circumscribed, encapsulated masses with the largest measuring 4x2.5x2 cm. The cut section showed slit-like spaces surrounded by grey-white areas (Figure ).
Microscopy predominantly showed an encapsulated tumor composed of proliferating acini lined by epithelial and myoepithelial cells, many of which are compressed by fibrous stroma, which is myxoid in areas (Figures -). At the foci, there were areas showing nests of malignant cells having pleomorphic nuclei, prominent nucleoli, and eosinophilic cytoplasm with atypical mitosis, a cribriform pattern, and comedo necrosis, suggestive of ductal carcinoma in situ (Figures -). Stroma surrounding the carcinoma was normal without any evidence of atypical cell invasion. |
pmc-6402744-1 | A 27-year-old Caucasian male presented voluntarily to the emergency room of a community hospital with intensifying obsessive-compulsive symptoms and the onset of suicidal ideation. He had been experiencing worsening fear of contamination for approximately one week after a nocturnal emission while camping which led to the feeling that he was unable to clean himself properly. Throughout this past week, he isolated himself at home and was not going to work. His depression was worsening and he reported dysphoria, anxiety, anhedonia, low energy, low motivation, decreased social interest and poor sleep. He stated he had suicidal ideations which were fleeting and denied any intention or plan. He denied hallucinations, delusions, symptoms of mania or hypomania, use of alcohol or illicit substances.
His past medical history is non-contributory. He has a past history of one psychiatric hospitalization. He denies any history of suicidal behavior, history of physically or sexually aggressive behavior and denies any history of drug abuse. Both of his parents have a history of anxiety. He grew up in Maryland and is a college graduate. He lives with his mother and stepfather and works as an editorial assistant. He denies any history of physical or sexual abuse but reports “experimenting” with his stepbrother in middle school.
The patient remembers his anxiety beginning around age 14. It started with trichotillomania, hair pulling, specifically from the back of his scalp, which alleviated anxiety for him. Around age 15, he developed a fear of contamination. This obsession was relieved temporarily with compulsive hand washing. He was managed outpatient for most of his life with the exception of one prior psychiatric hospitalization until this most recent episode following a nocturnal emission while camping. His depression developed secondarily to learned helplessness against his OCD.
Upon admission in the emergency room (ER), the patient’s vitals were taken and labs were drawn. Vital signs were all normal, complete blood count and basic metabolic panel were within normal limits. Urine toxicology screen was negative, and blood alcohol level was <10. The patient reported no additional symptoms other than the presenting complaint upon review of symptoms.
Mental status examination demonstrated a well-groomed, casually dressed patient who was pleasant, cooperative and maintained appropriate eye contact. His speech was of normal rate, rhythm and volume and his affect was full range. His mood was anxious and thought process was logical and goal oriented. His thought content was notable for fleeting suicidal ideation without intention or plan. He denied violent ideations, auditory or visual hallucinations and delusions. His attention span, memory and concentration were grossly intact. His insight, judgement and impulse control were all fair. He was alert and oriented with an adequate fund of knowledge.
Our patient was admitted to the Behavioral Health Unit and was restarted on Risperdal (risperidone) 0.5 mg and Zoloft (sertraline) 200 mg by mouth every evening. We continued monitoring his progress for the next few days. He continued to improve on medications with his compulsive hand washing decreasing from 30 times a day to 10-15 times a day. He participated in group activities and reported no suicidal ideations while on the unit. He was released with the intention of following up with a therapist who was trained in exposure and response prevention (ERP) and following up with psychiatrist who could manage his medications in the community. |
pmc-6402745-1 | A 52-year-old man with a past medical history of hypertension, hyperlipidemia and well-controlled type 2 diabetes with no prior history of gastroparesis presented with nausea, abdominal distension, and pain of one-week duration. The patient initially reported symptoms of early satiety and excessive bloating, leading to nausea and progressive abdominal distension. He then developed more acute, severe epigastric and left upper quadrant pain. Upon arrival at a local emergency department, a nasogastric tube was placed with over 1 liter of fluids suctioned. This provided instant symptom relief but raised concern for gastric outlet obstruction. An abdominal CT scan at the time revealed markedly distended stomach with food/debris and normal caliber duodenum without an obvious lesion (Figure ). Due to concern for gastric outlet obstruction and the possible need for surgery, the patient was transferred to our tertiary care center for further evaluation. Physical examination on transfer was notable for a soft but mildly distended abdomen with mild tenderness to palpation in the epigastrium and left upper quadrant with faint bowel sounds and negative succussion splash. His nasogastric tube was still putting out significant fluid to suction. Laboratory testing revealed glucose level of 105 mg/dL, hemoglobin A1c of 7.0, normal liver function tests, normal lipase, normal CBC and chemistry. Abdominal x-ray showed a non-obstructive gas pattern with no intestinal dilatation. On review of his medications, he mentioned a recent start of liraglutide at 1.2 mg subcutaneously daily for optimization of his glycemic control. He was not taking any opiates prior to and during his hospital stay.
Shortly after admission, he underwent an upper endoscopy, which showed no evidence of an obstructing lesion, tumor, or bezoar (Figure ). The pylorus was patent and easily traversed. There was mild irritation in the gastric body, likely related to nasogastric tube trauma.
Given the temporal relationship of his symptoms to the recent initiation of liraglutide, this was determined to be the likely etiology of his acute presentation. The esophagogastroduodenoscopy (EGD) was helpful to exclude a mechanical obstruction. Notably, by withholding further doses of liraglutide, dietary modification, and a brief course of antiemetics and metoclopramide, his symptoms completely resolved. |
pmc-6402749-1 | A 36-year-old male patient reported to our department with a chief complaint of restricted mouth opening and discomfort in his left inner cheek region for the past eight months. The patient also had a burning sensation when consuming spicy foods.
The patient has been a smoker for the past six months (3 cigarettes/day) and a pan chewer for the past three years (gutkha and jardha, thrice daily). He pouches the smokeless tobacco in his left buccal mucosa for two hours and then spits it out.
Extraoral examination revealed a single ovoid lymph node palpable in the left submandibular region, measuring approximately 3 x 2.5 cm, which was non-tender and firm in consistency and was freely mobile in all planes.
On intraoral examination, generalized blanching was evident involving both the right and left buccal mucosa, with areas of hyper- and hypopigmentation seen interspersed with erythematous regions. The mucosa was tough and leathery on palpation. Multiple vertical fibrotic bands were palpable on the left buccal mucosa. The mouth opening was severely restricted with interincisal distance being approximately 29 mm. The patient had buccoverted 28 which had obscured the visibility of a mass in relation to the posterior buccal mucosa and was missed by other healthcare professionals on previous visits. Hence, an extraction of 28 was done, which revealed a solitary diffuse proliferative growth on the posterior aspect of left buccal mucosa measuring approximately 2 x 1.8 cm, extending superiorly 2 cm below the upper buccal vestibule, inferiorly until the occlusal level of 38, anteriorly 4.5 cm away from the corner of mouth, and posteriorly until the pterygomandibular raphe region (Figure ). The surface of the growth appeared irregular with small elevated whitish projections and surface indentations caused by the cusp of corresponding teeth (28, 37, 38). The mucosa immediately adjacent to the growth appeared slightly erythematous. The growth was non-tender, indurated, and firm in consistency. No bleeding on mild provocation was evident.
On correlating the chief complaint and clinical examination, a provisional diagnosis of malignant proliferative growth on the left buccal mucosa, along with oral submucous fibrosis, was suggested.
An orthopantomogram showed no evidence of bone erosions or any other gross pathology (Figure ). A computed tomography (CT) scan was recommended which revealed a clinically enhancing lesion in the left retromandibular region with adjacent mandibular erosion and possible infiltration of the medial pterygoid muscle and the pterygomandibular raphe region, suggestive for the possibility of malignancy (Figure ). There was evidence of an enlarged left level II B lymph node measuring 11 x 8 mm.
A cytological smear study elicited normal polygonal squamous epithelial cells, along with mixed inflammatory infiltrate and red blood cells.
Incisional biopsy was done and the histopathological analysis revealed dysplastic features, such as hyperchromatism, increased nuclear-cytoplasmic ratio, nuclear pleomorphism, individual cell keratinization, and malignant epithelial islands seen in connective tissue attempting to form keratin pearl formation (Figure ). Thus, a final diagnosis of well-differentiated squamous cell carcinoma was made. TNM staging was T1 N1 M0 (Stage 3).
The patient was advised to undergo a surgical procedure involving excision of the lesion with a wide clearance, hemimandibulectomy, and radical neck dissection. However, the patient was not willing to undergo the extensive surgery and hence underwent cisplatin-based chemoradiation (as it was a locoregionally advanced buccal squamous cell carcinoma) followed by adjuvant radiotherapy. |
pmc-6402750-1 | A 63-year-old Caucasian man, with a prior history of actinic keratoses treated with liquid nitrogen cryotherapy, presented for a total body skin check. He had no history of sexually transmitted infections. A cutaneous examination revealed a 2x2 millimeters purple papule on the corona of his penis (Figure ). Further history elicited that the lesion was asymptomatic and had been present for 30 years. A correlation of the clinical presentation and lesion morphology established the diagnosis of penile angiokeratoma. |
pmc-6402751-1 | An 87-year-old male former smoker with hypertension, hyperlipidemia, and previous history of coronary artery disease (CAD) status-post percutaneous coronary intervention (PCI) 20 years ago, presented with intermittent chest discomfort for one week associated with lightheadedness. On admission, he was hypotensive with 70/54 mmHg and pulse rate of 69/min. Auscultation revealed no murmurs. An electrocardiogram (EKG) showed sinus rhythm with ST elevations in leads II, III, and aVF and reciprocal ST depressions in leads I and aVL (Figure ).
The patient was treated with fluid boluses, aspirin 325 mg, a clopidogrel load of 600 mg, a heparin drip, and underwent urgent cardiac catheterization. Angiogram revealed a 99% stenosis in the right coronary artery (RCA) and 90% stenosis in the proximal left circumflex (LCx). A drug-eluting stent (DES) was placed in the RCA. An LCx intervention was staged the next day secondary to acute kidney injury. An echocardiogram performed on the day of admission showed mild LV systolic dysfunction with an ejection fraction (EF) of 55-60% and hypokinesis of the inferior and inferolateral wall. The patient’s nine-day hospital course was uneventful. Four days after discharge, he again presented to the ED with acute dyspnea, a new murmur, and congestive heart failure with hypoxia (O2 saturation 79% on room air), initially treated with oxygen and intravenous (IV) diuretics. A computed tomography angiogram (CTA) was negative for pulmonary embolus but was concerning for a ventricular septal defect (VSD). Echocardiogram revealed an LV basal inferior wall aneurysm with a VSD located at the inferior portion of the ventricular septum (Figure ).
Cardiac magnetic resonance imaging (MRI) confirmed a small defect within the inferior portion of the interventricular septum consistent with a post-MI VSD, measuring 8 x 11 mm. A percutaneous repair was planned as the surgical risk was deemed high. The patient’s hospital course was complicated by an upper gastrointestinal (GI) bleed and paroxysmal atrial fibrillation prior to attempting the procedure. The patient’s troponin-T was 0.15 ng/L on admission which later trended down to 0.07 ng/L. Once the patient was intubated for the percutaneous repair, intraprocedural transesophageal echocardiography (TEE) was performed, noting a walled-off myocardial free wall rupture with a large amount of clotted blood in the pericardium (Figure ).
The VSD closure was aborted. The patient’s family opted for terminal extubation, and the patient died the next day. |
pmc-6402858-1 | A 40-year-old man with no past medical history presented to the emergency department with weakness, generalized abdominal pain, nausea, and intractable vomiting of one-week duration. He also endorsed multiple episodes of loose, non-bloody bowel movements. He denied any fevers/chills, hematochezia, melena, voiding difficulty, dysuria, hematuria, or flank pain. Of note, the patient denied any prior history of abdominal pain, changes in bowel habits, or underlying family history of gastrointestinal or renal disease. The patient, however, stated that he had not seen a physician in the past 18 years.
On physical examination, his temperature was 36.8°C, heart rate 69 bpm, respiratory rate 16 br/min, blood pressure 147/102 mmHg, and oxygen saturation 100% on room air. The patient appeared diaphoretic and in moderate distress. The abdomen was soft, diffusely tender, no distension/guarding /rigidity, and normoactive bowel sounds, costovertebral angle (CVA) tenderness, and Murphy sign negative.
Laboratory data revealed a white blood cell count of 6100 K/mcl, hemoglobin 5.9 g/dL, hematocrit 18%, and platelet count 240,000 K/mcl. The basic metabolic panel revealed sodium of 130 mmol/L, potassium 4.7 mmol/L, chloride 95 mmol/L, CO2 24 mmol/L, blood urea nitrogen (BUN) >150 mg/dL, creatinine 26.9 mg/dL, anion gap 21, glucose 87 mg/dL, and serum calcium 6.5 mg/dL. Liver function studies and lipase were within normal limits. The fecal occult blood test (FOBT) was negative. Anemia workup showed normal iron, low total iron binding capacity (TIBC), high ferritin, normal B12, and low reticulocyte count. Arterial blood gas showed pH 7.35, pCO2 18, pO2 149. Lactic acid was 0.4 mmol/L, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) were normal. Urinalysis showed microscopic hematuria, proteinuria, and a urine protein to creatinine ratio of 2.5.
Imaging revealed renal ultrasound with an increased echogenicity of both kidneys without atrophy or hydronephrosis. Computed tomography (CT) abdomen/pelvis revealed diffuse bowel wall thickening from the terminal ileum throughout the entire colon with thumbprinting noted, surrounding mesenteric inflammatory changes extending to the rectum, and 9 cm kidneys (Figures -). There was no visualized lymphadenopathy or retroperitoneal mass on CT.
Subsequently, the patient was transfused two units of packed red blood cells, given analgesics, and placed on intravenous fluids at 100 cc/hour. Nephrology and gastroenterology were consulted. On hospital Day 2, the patient was noted to have persistent anion gap metabolic acidosis, uremia, and hyperkalemia with hyperphosphatemia. The electrocardiogram obtained showed a sinus rhythm with no acute ST wave changes. The patient was given D50 with insulin administration. He subsequently underwent hemodialysis with ultrafiltration. On hospital Day 3, the patient endorsed a significant improvement in his abdominal pain with the ability to pass formed stool. He was placed on oral amlodipine, sevelamer, and sodium bicarbonate.
Further laboratory testing showed that parathyroid hormone was elevated, consistent with secondary hyperparathyroidism. Hepatitis B, C, and HIV were negative. Serum complement studies demonstrated a low level of C3 but normal C4. Double-stranded deoxyribonucleic acid (DNA), immunoglobulin G (IgG), rheumatoid factor, cytoplasmic antineutrophil cytoplasmic antibodies (c-ANCA), perinuclear-ANCA (p-ANCA), and glomerular basement antibody were negative. There was no monoclonal gammopathy on serum protein electrophoresis (SPEP)/urine protein electrophoresis (UPEP). Fecal leukocyte, stool culture, ova/parasite, Clostridium difficile (C. diff) toxin assay, and Escherichia coli (E. coli) O157:H7 Ag testing were negative. The peripheral smear was unremarkable and demonstrated no schistocytes.
Throughout subsequent days, the patient had complete resolution of abdominal complaints, however, despite providing supportive therapies with intravenous fluids, red blood cell transfusions, and hemodialysis, the patient continued to have a worsening of his BUN and creatinine. A renal biopsy was obtained to evaluate for underlying glomerular disease, which revealed several glomeruli with fibrous-fibrocellular crescents, widespread prominent interstitial fibrosis, and tubular atrophy, with 90% glomerulosclerosis consistent with IgAN (Figures -).
Electron microscopy revealed scattered mesangial and intramembranous dense deposits (Figure ).
Immunofluorescence performed showed mesangial IgA deposits seen in a glomerulus with open capillaries, and IgA staining in a sclerotic glomerular with bright enhancements indicating casts (Figures -).
It was determined by nephrology that he would need long-term dialysis. He underwent left upper extremity radiocephalic arteriovenous (AV) fistula creation and right internal jugular tunneled catheter placement for outpatient hemodialysis access. He was discharged with instructions to follow up in the outpatient department with dialysis. |
pmc-6402859-1 | A 67-year-old male with a history of follicular lymphoma and prostate cancer presented to our hospital with an altered mental status for three days. Physical examination revealed a blood pressure of 146/80 mmHg, a heart rate of 89 beats per minute (BPM), a temperature of 38.4 °C (101.1 °F), normal heart sounds, an inability to follow commands, absent gag reflex and flaccid paralysis involving both upper and lower extremities in addition to absent reflexes in all four limbs. Electrocardiogram (EKG) on day one (Figure ) showed a normal sinus rhythm and normal intervals.
Few hours following admission, his temperature increased to 39.4 °C (102.9 °F); however, his heart rate remained within the same range at 89 bpm. Initial laboratory investigations revealed acute kidney injury with a creatinine level of 3.2 mg/dL (normal: 0.60-1.20 mg/dL), hypokalemia of 3.2 mEq/L (normal: 3.5-5.1 mEq/L), hypomagnesemia at 1.7 mg/dL (normal: 1.9-2.7 mg/dL), and elevated creatinine phosphokinase level at 4,082 U/L (normal: 35-350 U/L). No significant acid-base disturbances were noted on arterial blood gas (ABG) analysis. Electrolyte imbalances were corrected within the first 48 hours following admission with fluid resuscitation and electrolyte replacement. Initial troponin level was elevated at 0.2 ng/mL (normal: <0.04 ng/mL). White blood cell count was normal at 5,300 cells/µL (normal: 3,500-10,600 cells/µL), with a low lymphocyte count of 600 cells/µL (normal: 1,000-3,800 cells/µL). Head computed tomography (CT) scan did not reveal significant abnormalities. Brain magnetic resonance imaging (MRI) showed small infarcts in the watershed area of deep white cerebral matter. Cerebrospinal fluid (CSF) analysis showed an elevated white cell count of 80 cells/µL with 57% neutrophils and 32% lymphocytes concerning for early viral or bacterial infection. A CSF sample was sent for analysis of WNV immunoglobulin M (IgM) titers, Herpes simplex virus (HSV) polymerase chain reaction (PCR), Epstein Barr virus (EBV) PCR and cytomegalovirus (CMV) PCR. In the meanwhile, intravenous (IV) vancomycin, cefepime, trimethoprim/sulfamethoxazole, and acyclovir were initiated, and the patient was intubated considering his significantly altered mental status and inability to protect his airways.
On hospital day five, telemetry monitoring revealed a gradual downward trend of the patient’s heart rate, reaching a nadir of 34 bpm. EKG showed sinus bradycardia, first-degree atrioventricular (AV) block and a prolonged QTc interval of 525 ms (Figure ).
Later that day, the patient suffered from an episode of pulseless electrical activity (PEA), for which cardiopulmonary resuscitation (CPR) was initiated, achieving a return of spontaneous circulation (ROSC) after 11 minutes. Bradycardia and long QTc persisted despite resolution or electrolyte abnormalities, normalization of troponin levels and absence of hypoxia, acid-base disturbances, atrioventricular blocking, or QTc prolonging medications. Furthermore, EKG did not show any regional wall motion abnormalities or evidence of cardiac ischemia.
Results for the CSF sample that was sent with an initial lumbar puncture on day one showed positive WNV IgM titers and negative results of HSV, EBV and CMV PCR. IV antimicrobials were stopped and IV immunoglobulin (IVIG) was initiated. In the meantime, cardiology team was consulted for further evaluation and possible pacemaker placement. A decision to proceed with supportive care, IVIG treatment, and continuous monitoring was made before considering pacemaker placement. Three days later, his mental status improved, and the sinus bradycardia and the prolonged QT started to gradually improve (Figure ) and the need for pacemaker placement was deemed unnecessary at this point.
The patient remained in flaccid paralysis and areflexia and could not be weaned off the ventilator. Tracheostomy and percutaneous gastrostomy tube were placed, and the patient was discharged to a skilled nursing home for rehabilitation. |
pmc-6402861-1 | A 63-year-old male, a medical doctor in rural health care center, with known comorbidities of hypertension and type II diabetes mellitus, presented in urology clinic with complaints of increased frequency of urination for the past two years. There was no associated pain, blood, dribbling or hesitancy. On review of systems, he was found to have blurred vision in both eyes. His past medical and surgical histories were not significant. Although his family history was positive for diabetes mellitus and coronary artery disease in siblings, but there were no malignancies. His medications included metformin, acetylsalicylic acid, carvedilol, amlodipine and atorvastatin. He denied smoking, drinking alcohol or any other addiction. On general physical examination, he was anemic. Central nervous system examination was within normal limits. On chest auscultation, there were no added sounds. Abdomen was soft, non-tender with no hepatosplenomegaly on palpation. Upon digital rectal examination, prostate gland was enlarged, nodular and firm to hard in consistency.
Suspecting a primary prostate disease, a serum prostate-specific antigen level was advised, which reported as 44.53 ng/ml. A transrectal ultrasonography-guided 12 core biopsy of prostate gland was planned which showed adenocarcinoma of prostrate. All the cores were involved by the disease with a Gleason score of 8. For staging purposes, he was further investigated with a magnetic resonance imaging (MRI) of the pelvis and a whole-body skeletal scintigraphy. On MRI prostate appeared heterogeneous and enlarged measuring 48 x 41 x 38 mm in anteroposterior, transverse and craniocaudal dimensions. Signal abnormality was seen in the peripheral zone on the left side representing a neoplastic lesion, infiltrating into the adjacent fat. Seminal vesicle on the right side was also involved; however, there were no enlarged lymph nodes (Figure , ). Whole-body skeletal scintigraphy was negative for bony metastasis.
On the basis of the clinical findings, he was assigned a very high-risk group as per the prostate cancer risk group’s stratification. He was offered curative treatment with external beam radiation therapy to pelvis along with hormonal therapy. A computed tomography (CT) scan of abdomen and pelvis with intravenous contrast was done for radiation planning purposes. This CT revealed an incidental renal mass with enlarged paraaortic nodes (Figure ).
Ultrasonography of abdomen complimented these findings. He underwent left paraaortic lymph node biopsy which showed small clusters of atypical epithelial cell, most likely renal origin with positive IHC – CKAE1/AE3, CD10 and vimentin focally positive. CT chest with intravenous contrast was done to complete the staging workup and that was normal.
He underwent left partial nephrectomy with pelvic and paraaortic lymph node dissection. Histopathology revealed papillary Grade 3 RCC with tumor confined to kidney only. Both perinephric resection margin and renal parenchymal margins were tumor free and lymphovascular invasion was not identified. A total of nine lymph nodes were removed and they all turned out to be positive for renal cell carcinoma. Pathological staging was pT1N1. For prostrate carcinoma external beam radiotherapy was delivered with intensity modulated radiation therapy (IMRT) technique delivering a dose of 7560 cGy in 42 fractions with radical intent along with androgen deprivation therapy (ADT). |
pmc-6402861-2 | A 40-year-old female with a known case of hypertension presented in the gynecology oncology clinic with complaints of intermenstrual bleeding and increased urinary frequency for the last three months. The patient denied any significant medical or surgical history. She had no substantial family history. Her systemic examination was unremarkable. However, on her vaginal examination with Cusco’s speculum, a barrel-shaped cervix was visible with a lobulated mass in the left vaginal fornix. On palpation, the mass was firm in consistency, approximately 5 x 5 cm in size and there was no bleeding. Subsequently, a digital rectal examination was also performed which revealed a mass fixed to left pelvic side wall.
On investigating the mass her examination under anaesthetic (EUA) was done and biopsy was taken from the cervical mass which turned out to be non-keratinizing squamous cell carcinoma. CT abdomen and pelvis with intravenous contrast was performed which revealed enhancing lesion in cervix which is extending into the posterior parametria. Another positive finding was exophytic heterogeneous lesion arising from lower pole of left kidney, which was reported as primary renal neoplasm with abdominal pelvic lymphadenopathy (Figure ).
The patient was referred to a urologist and the case was discussed in multidisciplinary tumor board and the consensus was made to manage the cervical cancer first due to its natural history followed by partial nephrectomy for left renal mass. For cervical carcinoma, she was treated with external beam radiation therapy with curative intent in definitive setting with a total dose of 5040 cGy in 28 fraction @ 1.8 Gy per fraction along with weekly concomitant cisplatin 40 mg/m2. She further received 24 Gy via tandem and ovoid brachytherapy in three fractions. She completed the treatment and tolerated the procedure well with limited pelvic and gastrointestinal (GI) toxicities. She is now planned for partial nephrectomy for her renal cell carcinoma. |
pmc-6402861-3 | This is a 59-year-old, nulliparous, post-menopausal woman who was referred to gynecology oncology clinic by a local gynecologist. In recent past, she had complaints of vaginal spotting for two months for which she underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy without any pre-operative investigations. Her remote past surgical history was significant for appendectomy in 2012 and tonsillectomy in 2014. Family history was significant for malignancy in her younger brother who had salivary gland carcinoma. Her gynecological examination revealed small induration at the anterior wall of vagina near the vault. Rest of the systemic examination was unremarkable.
The histopathology was reported as moderately differentiated endometrial adenocarcinoma, Grade 2; the lesion was invading more than 50% of myometrium. Size of the tumor was 4.5 x 3 x 1 cm in anteroposterior, transverse and craniocaudal dimensions. A positron emission tomography (PET) scan showed hyper metabolic soft tissue lesion involving vaginal stump extending into left adnexa with standardized uptake value (SUV) 16.4. This was most likely post-surgical changing and there was no evidence of distant metastasis.
She was planned for adjuvant radiotherapy for which she underwent planning CT scan of abdomen and pelvis with intravenous contrast which revealed supplementary mass in left kidney (Figure ). The mass was reported as renal cell carcinoma on radiology which was further confirmed on ultrasound abdomen.
The case was discussed in urology multidisciplinary team (MDT) and consensus was made to perform ultrasound-guided biopsy of the renal mass. The patient, however, refused to undergo the procedure so she is now planned for radiotherapy to the whole pelvis with three-dimensional conformal radiotherapy (3DCRT) delivering the total dose of 4500 cGy @ 1.8 Gy per fraction followed by two fractions of brachytherapy one week apart. |
pmc-6402862-1 | Presenting concerns
This is a case of a 22-year-old white female who presented at 34 weeks with preterm premature rupture of membranes. She had a history of two prior cesarean deliveries. A left ovarian tumor, not noted during the course of her current pregnancy, was noted on cesarean delivery.
Current pregnancy
When she presented with preterm premature rupture of membranes, repeat cesarean section was performed again. At the time of surgery, another 8 cm mass on her left ovary was diagnosed intraoperatively. This mass was not diagnosed prior to surgery. A second trimester ultrasound was performed that did not show any ovarian cyst. During the surgery, the mass appeared tan with punctate focal hemorrhage. The mass was unable to be separated from her left fallopian tube, so the mass, the left fallopian tube and part of the left ovary were all removed. We were able to leave a small amount of residual ovarian tissue. Pathologic description noted a multiloculated and cystic mass with clear mucinous fluid consistent with mature cystic teratoma (Figure ). Her postoperative course was uncomplicated.
Previous pregnancy
Her antecedent pregnancy was complicated by right ovarian torsion at 13 weeks secondary to an ovarian tumor. A right salpingo-oophorectomy was performed. The right ovary was sent to pathology and noted to be infarcted with no viable tissue from the mass to make a definitive diagnosis (Figure ). During that same surgery, an 8 cm, irregularly shaped mass with a focally hemorrhagic surface was noted on the left ovary. A left ovarian cystectomy was performed, and final pathology showed a benign mucinous cystadenoma (Figure ). At the time of cesarean in the same pregnancy, a metachronous mucinous cystadenoma was noted on her left ovary; cystectomy and partial left oophorectomy were performed.
Follow-up and outcomes
Following her third cesarean delivery, this patient was surprised to learn that she had developed another ovarian cyst in pregnancy necessitating removal. She was concerned about the function of her residual ovarian tissue following three surgeries. |
pmc-6402863-1 | A 67-year-old male with a past medical history significant for diverticulitis and hypertension presented to the emergency department for a complaint of back pain that started two days prior to admission. The patient described the pain as severe, sharp in nature and aggravates with movement. A skeletal survey reported multiple small lytic lesions. A computed tomography (CT) scan without contrast of thoracic spine showed multiple myelomatous involvements of the T6 and T7 vertebra including compression deformity and ventral epidural extension at the T6 level (Figure ). Magnetic resonance imaging (MRI) of the thoracic and lumbar spine showed destructive osseous lesions in T6 and the transverse process on the left of the T7 vertebral body (Figure ). CT-guided biopsy reported plasmacytoma with a negative MYD88 L265P status. M-protein concentration (1.88 mg/dL) and IgM (2,570 mg/dL) level were elevated. Serum lambda was normal (174 mg/dL), while both kappa (3,130 mg/dL) and kappa/lambda ratio (17.99) were increased. Interpretation of serum protein immunofixation electrophoresis showed biclonal gammopathy with IgM and IgG kappa light chain restriction. Flow cytometry showed no immunophenotypic evidence of involvement by a B-cell non-Hodgkin lymphoma (NHL). A subsequent bone marrow biopsy showed B-cell NHLs with plasmacytic differentiation and positive MYD88 L265P mutation. The immunostains in the core biopsy demonstrated kappa monotypic plasma cells involving approximately 5% of the marrow cellularity. Palliative radiation to T5-T9 helped improve bone lesions and pain. The patient received dexamethasone during hospitalization and was then started on a combined bendamustine and rituximab therapy. The therapy was later discontinued after a total of five cycles due to the progression of his M protein and lack of response. He was then switched to Revlimid, Velcade and dexamethasone. Consequently, his M-protein concentration started to decrease (Figure ). |
pmc-6402866-1 | A 49-year-old, otherwise healthy, Hispanic male underwent an uncomplicated vasectomy and was discharged with a one-week supply of standard-dose ibuprofen and ciprofloxacin. He denied taking other medications or supplements prior to the procedure. Two days after completing his ciprofloxacin regimen, a pruritic, maculopapular rash began spreading progressively from his posterior neck to the face, trunk, and all extremities over five days. At presentation, blistering and desquamation had developed globally; however, the soles of the feet and hair-bearing skin of the head were spared, as was a circumorbital distribution extending posteriorly across the sides of his face, which corresponded to the sun-shielded areas associated with his regular use of sunglasses. Mild mucosal ulceration of the mouth and eyelids was present, and an estimated 90% of the skin was involved, though with less than 10% epidermal detachment (Figure ). Punch biopsies confirmed the diagnosis of SJS. Careful history revealed that the patient had consumed approximately 32 ounces of grapefruit juice with 2 to 4 servings of alcohol every evening for seven days following his vasectomy. He reported this large consumption of grapefruit juice and alcohol as abnormal for him. |
pmc-6402867-1 | A 19-year-old man with a history of a left lower extremity gunshot wound requiring a popliteal-tibial bypass first presented with pain over the dorsum of his left great toe. An overlying area with ulceration was probed to the bone. He was febrile to 38.30C and tachycardic at 110 bpm with leukocytosis of 14,800 WBC/mm3 and was commenced empirically on vancomycin and piperacillin-tazobactam therapy. Deep wound cultures grew methicillin-sensitive Staphylococcus aureus, and his antibiotic regimen was narrowed to oxacillin, 2 grams every four hours. Given his prior intravenous drug use, he was discharged to a nursing facility to complete a six-week course of intravenous antibiotic therapy for osteomyelitis.
He was readmitted four weeks later after a behavioral disturbance led to premature discharge from the facility. Admission laboratory data demonstrated profound neutropenia (30/mm3) and a marked elevation in liver transaminases (aspartate aminotransferase (AST) 339 U/L, alanine aminotransferase (ALT) 551 U/L) (Table ). The differential diagnosis of acute hepatic injury with pronounced neutropenia included antibiotic toxicity, and oxacillin was promptly discontinued. Cefazolin was administered for the final two weeks of his antibiotic course. The neutropenia resolved within days while hepatitis resolved over the subsequent two weeks (Table ). |
pmc-6402868-1 | History and examination
A 42-year-old male with a history of right eye visual field abnormalities presented with recent visual disturbances of the right eye and intermittent headaches. The visual disturbances were described as intermittent spots of blurriness. Initial MRI with contrast showed an oval-shaped lesion within or abutting the right optic chiasm. The lesion demonstrated intrinsic T1 hyperintensity (Figure ), as well as susceptibility and increased T2 and fluid-attenuated inversion recovery (FLAIR) signal. In the subsequent months, the patient complained of worsening visual changes that included the left eye as well. Visual acuity was graded 20/30 OD, 20/20 OS, and visual field testing revealed a very small scotoma in the left lower quadrant of the right eye. Pupils were equal, round, and reactive to light. Color vision was within normal limits with 14 out of 14 color plates correctly named in each eye. A dilated funduscopic exam revealed the discs to be sharp and pink with a cup to disc ratio of 0.1 OD, 0.2 OS and no optic nerve pallor on either side. Extra-ocular motility was intact bilaterally. At this time, the patient was referred to our services and was diagnosed as a possible CM, with a differential diagnosis, including craniopharyngioma, meningioma, and arteriovenous malformation (AVM). Due to the eloquent location of the lesion and the risk of visual loss, observation was chosen over surgery. Two months after presentation to the clinic, the patient visited the emergency department due to headaches and further visual changes in the inferior fields of both eyes, citing increased blurriness specifically. Visual acuity worsened to 20/40 OD, with no visual field cuts and no papilledema bilaterally. The patient was started on corticosteroids. Repeat MRI showed an expansion of the right optic chiasm/nerve lesion with increased T1 hyperintensity compatible with acute hemorrhage (Figure ). The lesion extended posteriorly and laterally to abut the right uncus and right cerebral peduncle. Visual field deficits were present in about three-quarters of his vision in both eyes, including the left temporal field and the right inferior nasal field (Figure ). After discussing therapeutic strategies with the patient, the decision was made to operate because subsequent bleeding could have caused irreversible blindness in both eyes.
Operation
Under general anesthesia, the senior author (EMD) performed a right pterional craniotomy for the resection of the right optic nerve and chiasm CM. Brain relaxation was performed by draining cerebrospinal fluid from the cisterns, making the opening of the Sylvian fissure unnecessary. The right optic nerve was identified microscopically and followed back to the chiasm, which showed purplish discoloration with hemosiderin staining. Discoloration was distributed along the superomedial aspect of the optic nerve on the right side and the posterior aspect of the optic chiasm. The CM was microdissected from the surface of the optic nerve without incising the nerve itself. The middle portion of the CM was densely adherent to the vasculature of the optic chiasm and nerve. Cauterization of the residual portion of the CM was completed, preserving the vasculature in order to reduce the likelihood of an ischemic event. Frozen and permanent specimens were sent to pathology. The frozen section returned as abnormal vessel and hematoma. Surgically, there was GTR; however, subsequent radiographic imaging provided evidence that the resection may have been subtotal (see discussion). Craniotomy closure occurred by the replacement of the bone flap and the reapproximation of the myocutaneous flap.
Postoperative course
There were no immediate complications following the procedure. The permanent specimen returned as CM and three weeks postoperatively, the patient had regained approximately half of the vision that was lost and continued to improve (Figure ). MRI 12 months postoperatively showed no sign of recurrence (Figure ). Over two years after surgery, the patient had resumed all preoperative activities and reported significant visual recovery, with headaches occurring only once weekly. Thirty-two months after resection, MRI showed a small slightly lobulated area of T1 hyperintense material within the postoperative cavity along the right aspect of the optic chiasm (Figure ). This finding was new as compared to prior imaging and suggested that minimal recurrence in this location should be considered. Upon follow-up with ophthalmology, visual field deficits were stable. MRI at 39 months postresection showed previously seen small amounts of T1 hyperintensity in the central and right aspect of the optic chiasm with significantly decreased conspicuity (Figure ). Only a trace amount of T1 hyperintensity remained at the right aspect of the optic chiasm, suggesting the 32-month postop scan may have demonstrated a trace amount of subacute hemorrhage in the area suspected of being residual CM. During ophthalmological follow-up at three years, the patient mentioned having difficulty reading and more consistently occurring headaches since his office visit six months prior. Headaches were reported to be different than past migraines. When compared to older visual field testing, there was a worsening of deficits in the left eye but within the standard deviation. Visual acuity remained stable at 20/30 OD, 20/20 OS. The suspected residual CM will be followed with serial imaging and visual field tests with the possibility of additional surgical resection in the case of visual deterioration. |
pmc-6402869-1 | A 50-year-old female, a known case of retroviral disease but not on anti-retroviral therapy, presented with right flank pain and suprapubic pain for six months which worsened over the past 15 days with dysuria and increased frequency of micturition with nocturia and urgency. She had no hematuria, other lower urinary tract symptoms or fever. Clinical examination revealed suprapubic and right iliac fossa tenderness. She was anemic (Haemoglobin 7.6 g/dL) which was corrected with packed red blood cell transfusions. Her renal function test was normal. Ultrasonogram (USG) of kidney ureter bladder (KUB) revealed 1.2 cm right upper pole renal calculus with 1.7 cm vesical calculus (Figure ).
Plain X-ray of KUB did not show any radio-opaque shadows. Computerized tomography (CT) scan of KUB revealed only bladder calculi (Figures , ).
Cystoscopy revealed three spiky calculi in the bladder (Figure ).
On ureteroscopy, there was a fluffy lesion with mucosal edema over the right lateral wall in the region of the right ureteric orifice, which was biopsied (Figure ).
Biopsy showed fragments of urothelial mucosa with focal areas of ulceration. The underlying stroma was edematous with amorphous pale eosinophilic acellular deposits. Congo red stain showed apple-green birefringence under polarised microscopy suggestive of amyloid. Stroma showed dense infiltrate of plasma cells, lymphocytes and eosinophils. The sections were negative for dysplasia, granulomas or malignancies. Urine routine examination and cytology did not reveal any amyloid crystals. Urine culture was also sterile. Systemic amyloidosis, malignancies and other inflammatory causes also had been ruled out by contrast-enhanced CT abdomen and pelvis. Non-specific stain for amyloidosis like eosin and hematoxylin stain had shown the presence of amyloidosis. Special stain like Congo red stain had confirmed bladder amyloidosis (Figure ).
After transurethral resection of entire lesion, the patient went home without any major postoperative issues. The patient was called for follow-up imaging and cystoscopy after six months. |
pmc-6403098-1 | A 52-year-old female patient was referred to our hospital for a mass in the right abdomen and vague lower abdominal pain. The only remarkable event in her past history was a right breast fibroid neoplasm that had been removed 10 years before. |
pmc-6403099-1 | A 27-year-old Chinese gentleman presented to our colorectal surgery clinic with a one year history of progressively worsening rectal prolapse. He reported a history of Hirschsprung’s disease with an unknown operation performed at 2 years of age. He had a laparotomy and adhesiolysis for intestinal obstruction at age 13. No other significant past medical or mental illness was reported.
The patient complained of a full thickness, completely reducible rectal prolapse occurring after defecation (). He had daily bowel opening and no fecal incontinence. There was no associated abdominal pain, proctalgia or rectal bleeding. Physical examination of the abdomen revealed right transverse and midline abdominal scars. Anal tone was normal on digital rectal examination. There was no descent of the perineum on straining.
Initial workup consisted of a colonoscopy and contrast defaecography. At colonoscopy, a blind end was encountered at 25 cm. A suspected end-to-side ileocolic anastomosis was seen at 2–3 cm distal to the blind end. The scope failed to pass through this suspected anastomosis. Defaecography showed a 5 cm antero-posterior diameter rectal prolapse. It measured 2.5 cm in the cephalo-caudal dimension. There was no intra-rectal intussusception or anterior rectocele. The anorectal angle was 2 cm below the pubococcygeal line ().
Abdominal rectopexy was offered after workup but the patient opted for observation at the time as he worried about the possible surgical complications, like sexual dysfunction. After 11-year regular follow up, he finally agreed for operation due to difficulty in reducing the prolapse completely. Initially, laparoscopic rectopexy was attempted but failed due to dense intraabdominal adhesions. After conversion into laparotomy and adhesiolysis, an isoperistaltic ascending colorectal anastomosis was found at the peritoneal reflection. The right colon was rotated and freely mobile with a long mesentery and minimal retroperitoneal attachment (). The patient’s rectal prolapse was diagnosed to be an anal protrusion of this colorectal anastomotic intussusception, compatible with having had a Deloyers procedure in his youth. Therefore, the caecum was fixed to the parietal peritoneum of right upper quadrant with nonabsorbable polypropylene sutures (). The patient was then discharged after three weeks of postoperative ileus. No recurrence of prolapse was reported on more than two years of follow up. |
pmc-6403100-1 | A 69-year-old man with no medical history underwent laparoscopic low anterior resection for rectal cancer (T2N1bM0 stage IIIA), followed by adjuvant chemotherapy consisting of capecitabine 3600 mg/day on 36 days after surgery. Fifteen days post-administration, he was hospitalized with severe diarrhea, melena, fever, and neutropenia. A thoraco-abdominopelvic computed tomography scan showed an edematous small intestine; thus, the capecitabine was stopped and the antibiotic cefmetazole was started. On day 4, because of clinical worsening with low blood pressure and a decreased level of consciousness, he was transferred to the intensive care unit with sepsis and multiorgan failure. Laboratory tests showed bicytopenia (neutrophil count, 16/μL; platelet count, 4,4000/μL), coagulopathy (prothrombin time, 32%), metabolic acidosis (pH 7.19), hyperlactatemia (9.7 mmol/L), and renal failure (plasma creatinine, 2.7 mg/dL). Broad-spectrum anti-infectious treatment (meropenem, caspofungin) was started concomitantly with the administration of granulocyte-colony stimulating factor, vasopressors, and continuous hemodiafiltration. On day 7, pneumonia was evident on a chest X-ray, and a sputum culture was positive for methicillin-resistant Staphylococcus aureus (MRSA); thus, the additional administration of vancomycin was started. On 13 day, blood and stool cultures were positive for MRSA. On day 27, massive melena suddenly appeared, and upper and lower gastrointestinal endoscopy showed severe ulcers in the stomach (), duodenum, and rectum. DPD protein quantification in the PMBC was 17.1 U/mg (normal range, 33.6–183.6 U/mg in PBMC). The continual massive bleeding gradually deteriorated the patient’s hemodynamic state, and he died on day 41. A pathological autopsy revealed many intracellular inclusions from the jejunum to the rectum, indicating CMV enterocolitis and bone marrow hypoplasia (). |
pmc-6403422-1 | A 37-year-old female was assessed for a slowly growing right cervical mass. The mass was an asymptomatic nodule at the beginning but gave rise to neck and right upper limb pain 3–4 months later. The patient showed a swollen right upper limb with complete loss of motor function but preserved sensory function. Contrast-enhanced computed tomography (CECT) (Figure ) revealed a soft tissue mass in tight contact with the right trapezius muscle, containing a central dysmorphic calcification. The mass is enhancing as the adjacent muscles with poor delineation with the trapezius as seen on axial (C) and sagittal (F) contrast-enhanced CT images (arrows). Shortly after, the lesion was surgically removed. Almost two years later, a control CECT (Figure ) showed a large contrast-enhanced mass containing multiple scattered calcifications (A–E, arrows), extending into the paravertebral muscles (F, long arrow), towards the spinal canal and the foramina, with multifocal epidural invasion, compression of the spinal cord and nerve roots (F, short arrows) and elsewhere, thrombosis of the superior vena cava (G, arrow), all consistent with an extensive tumor recurrence. Unfortunately, the multiple recurrences were unsuccessfully managed by repeated surgery, radiotherapy and chemotherapy. Histopathology (Figure ) showed typical features of ossifying fibromyxoid tumor (OFMT) with bony component. |
pmc-6404045-1 | A 73-year-old gentleman with past medical history of left leg deep vein thrombosis
(on apixaban 5 mg BID) and bilateral hip replacement 2 years ago was diagnosed with
international staging system (ISS) stage 2 IgG kappa MM. Initial bone marrow biopsy
revealed >20% plasma cells, whereas the fluorescence in situ hybridization (FISH)
panel was positive for t(14-16) and negative for del13q14, t(4-14), t(11-14),
t(14-20), P53 and hypodiploidy. Patient received four cycles of bortezomib and
dexamethasone induction therapy but unfortunately had evidence of progressive
disease as per international myeloma working group (IMWG) response categories.
Patient’s regimen was switched to ixazomib, pomalidomide and dexamethasone and
subsequently patient achieved partial response after third cycle. Meanwhile, patient
presented to our hospital with slow onset dull pain localized to left hip along with
lower extremity weakness of the same side. He was ambulatory without any complaint
of urinary or stool incontinence. His vital signs were within normal limits.
Neurological assessment of left limb revealed a decrease in muscle power while
performing flexion and extension at hip and knee joint with a score of three by five
and four by five, respectively. Rest of the physical examination was unremarkable.
On admission, a T1- and T2-weighted contrast-enhanced magnetic resonance imaging
(MRI) of hip and lumbar spine showed a stable heterogeneous enhancement in the
sacrum consistent with patient’s known history of MM. Examination was limited
because of susceptibility artifact from the metal prosthesis. Patient was later
discharged with the advice of physical therapy. After 1 month, he was readmitted
with a rapidly enlarging painless neck mass and progression of left leg weakness.
Contrast-enhanced computed tomography (CT) scan of head and neck revealed a 7 cm ×
10 cm × 3 cm mass encasing left carotid sheath. Ultrasound-guided biopsy showed
CD138 positive plasmacytoid cells. He was switched to bortezomib, daratumumab and
dexamethasone along with radiation therapy (50.2 Gy) for locoregional control. The
differential diagnosis for his limb weakness included peripheral neuropathy
secondary to MM, chemotherapy or an autoimmune process. Antiganglioside antibodies
were ordered which came back negative. A trial of intravenous immunoglobulin also
failed to relieve his symptoms. He was prescribed gabapentin (100 mg three
times/day) for symptomatic relief and later discharged to a rehabilitation facility.
In the next 3 months, there was complete resolution of neck mass on follow-up CT
scan, but his lower extremity weakness worsened to a point that he could not walk.
Repeat MRI of hip region with metal artifact reduction protocol revealed a 7.7 cm ×
5.0 cm intramuscular mass abutting left hip prosthesis adjacent to greater
trochanter (). An
ultrasound-guided core biopsy revealed small- to medium-size plasmacytoid cells with
occasional plasmablastic cells. Immunohistochemistry positive for CD138 confirmed
the presence of plasma cells (). FISH reported strong kappa with no lambda immunoglobulin
expression consistent with monoclonal B cells. Diagnosis of EMP secondary to MM was
made. He was switched to elotuzumab, lenalidomide and dexamethasone accompanied with
focal radiotherapy. After 4 weeks, his leg weakness improved along with significant
reduction in tumor mass (3.3 cm × 2 cm) on follow-up MRI (). Unfortunately, patient died due to
aspiration pneumonia leading to hypoxic respiratory failure and sepsis. |
pmc-6404271-1 | A 74-year-old Japanese woman presented with a chief complaint of blurred vision and elevated intraocular pressure in her right eye during the previous month. She had a 20-year history of type 2 diabetes and hypertension. She had no known cancer, malignant lymphoma, or ocular manifestations of cancer. Her physical examination findings were unremarkable. Her treating ophthalmologist diagnosed acute iritis with secondary glaucoma. She underwent a trabeculectomy because topical corticosteroids and antiglaucoma medications had been ineffective in lowering the intraocular pressure. However, postoperatively, she still had diffuse thickening of the iris and white masses resembling frog spawn in the anterior chamber. An iris biopsy was performed, and immunocytochemistry analysis showed that the tumor cells were positive for cytokeratin (CK)-CAM5.2 and CDX2 and negative for CK7, CK20, thyroid transcription factor 1 (TTF-1), and anaplastic lymphoma kinase (ALK). These findings indicated a primary epithelial tumor, most likely from the gastrointestinal tract. She underwent positron emission tomography/CT to locate a primary tumor, but no abnormality was seen. Esophagogastroduodenoscopy demonstrated multiple irregularly shaped ulcerative lesions, multiple erosions, and thickened folds in the corpus of her stomach (Fig. a). A biopsy of a gastric tissue specimen revealed poorly differentiated carcinoma with signet ring cell features (Fig. b). CT revealed diffuse, low attenuation thickening of the gastric wall with punctuate calcifications (Fig. a). There were metastases to the para-aortic and mesenteric lymph nodes and peritoneal seeding. She was diagnosed as having poorly differentiated gastric adenocarcinoma metastatic to the iris, peritoneum, and lymph nodes.
She received a total of seven courses of TS-1, a novel oral fluoropyrimidine derivative that comprises the 5-fluorouracil prodrug tegafur (Ftorafur, FT) and two enzyme inhibitors, 5-chloro-2,4-dihydroxypyridine (CDHP) and potassium oxonate (OXO) in a molar ratio of 1(FT):0.4 (CDHP):1(OXO) (40 mg/m2, twice a day, on days 1–21) and intravenously administered cisplatin (60 mg/m2, on day 8) every 5 weeks (SPIRITS regimen) []. The white masses in the anterior chamber had slightly diminished after three cycles of chemotherapy and remained stable for seven cycles. A CT scan after six cycles of chemotherapy revealed no evidence of disease progression, although serum carcinoembryonic antigen levels gradually increased from 6.8 ng/mL at diagnosis to 28.4 ng/mL after six cycles. After seven cycles, CT revealed massive ascites that had accumulated since cycle 6. Serial follow-up CT revealed successive increases of calcifications in the gastric wall during the course of chemotherapy (Fig. b, c). She ultimately died of aspiration pneumonia 8 months after presentation. An autopsy revealed an ulcerated, invasive tumor involving the entire thickness of the wall of the stomach (Fig. a). It had also spread into the esophagus and the para-aortic and mesenteric lymph nodes. Mucinous adenocarcinoma is diagnosed when more than half of the tumor area contains extracellular mucin pools; signet ring cell carcinoma is diagnosed when adenocarcinoma is seen with a predominant component (> 50%) of isolated tumor cells that contain mucin []. Histologic examination revealed poorly differentiated adenocarcinoma containing signet ring cells beneath a preserved surface epithelium (Fig. b) and calcifications among the mucous lakes in the deep layers (Fig. c). Other areas showed scattered signet ring cells floating in the abundant mucin (Fig. d). The final diagnosis was mucinous gastric adenocarcinoma metastatic to the iris, peritoneum, and lymph nodes. The calcifications were present in extracellular mucin pools in the submucosa, corresponding to the thickened, low-attenuating middle layer seen on CT. |
pmc-6404278-1 | A 69-year-old Filipino man with history significant for hypertension and hyperlipidemia presented to his primary care physician with hematuria with weight loss of 1 month’s duration. He did not have any flank pain, burning on urination, or increased urinary frequency. He did not endorse any symptoms of fatigue or night sweats. His only medication was atenolol for his hypertension. He did not smoke tobacco, drink alcohol, or do any recreational drugs. He was unemployed at time of interview. He did not have any family history of cancer. His vital signs were within normal limits. On physical examination, he was well appearing and in no acute distress. He had no palpable mass and had an otherwise normal cardiovascular, respiratory, and neurologic examination. Laboratory work showed normal cell counts and normal electrolytes; the results of his kidney and liver function tests were normal. A computed tomography (CT) – intravenous pyelogram was performed as a diagnostic work-up for his hematuria, which demonstrated a large mass in the left collecting system and proximal ureter. He was seen by urology with plans for surgical resection 1 month later. Three weeks later he was admitted to the Emergency Department with nausea and vomiting. He was tachycardic to 110 beats per minute but maintained a normal blood pressure. His laboratory results were notable for hemoglobin to 12.1. His sodium was 134. At that time, a CT scan of his abdomen and pelvis showed interval enlargement of the left renal mass. An ureteroscopy with biopsy was performed, which showed necrotic tissue with rare crushed degenerating atypical cells. A screening chest CT scan was also obtained which showed a small 3 mm nodule in the lower lobe of his left lung. A follow-up interventional radiology-guided left kidney biopsy showed a cellular neoplasm with sheets of pleomorphic round cells with hyperchromatic nuclei, irregular nuclear outlines, and inconspicuous nucleoli with scant and delicate cytoplasm which is consistent with SCC. The tumor cells were positive for the neuroendocrine markers synaptophysin and CD56 with focal staining for chromogranin and dot-like positive staining for cytokeratin (AE1/AE3), supporting the diagnosis of SCC (Fig. ). A bone scan did not show any metastatic lesions. Shortly afterwards, he developed dizziness and an MRI of his brain was obtained revealing a 1.6 cm partially hemorrhagic round mass with surrounding edema in the midline superior vermis potentially representing metastatic disease. An additional 4–5 mm hemorrhagic metastatic focus was seen in the right occipital convexity. The cerebellar mass was resected and probably represented a renal origin due to the absence of lung masses along with clinical and radiographic correlation. He was started on whole brain radiation therapy during his in-patient stay. An out-patient oncology referral was made but he was unable to establish care due to frequent hospitalizations. He had several hospital admissions for nausea and vomiting and continued to decline functionally. He developed chronic hyponatremia during these hospitalizations which were attributed to SIADH. He originally presented with sodium of 119 and was stabilized to a sodium level of 128 with the use of salt tablets. He declined chemotherapy when it was offered by the oncology team during in-patient consultation due to poor quality of life and functional status; he died within 8 months of presentation at his nursing facility. The cause of his death was unknown. An autopsy was not performed. |
pmc-6404313-1 | A 28-year-old Asian woman (G3P1) who had undergone emergency cesarean delivery owing to a compound presentation at full term was referred to our institution with a suspicion of abnormally located gestational sac. She had undergone laparoscopic cholecystectomy and open appendectomy previously. She did not have any medical, family, or psychosocial history. She had missed her menstrual period without any other symptom and visited a private obstetrical clinic to confirm the pregnancy. However, she was diagnosed as having an abnormal pregnancy such as cervical or CSP by USG.
At our institution, she reported that her last menstrual period was just 5 to 6 weeks prior. However, USG revealed a gestational sac in the anterior lower uterine segment with a fetus measuring 4.83 cm crown-rump length (CRL) with positive cardiac activity, corresponding to 11 weeks and 6 days of gestation. Color/power Doppler images depicted a hyperechoic rim of a choriodecidual reaction with excessive vascularity (Fig. ). Although we could observe a definitive abnormally located gestational sac, our patient did not have any pain during the physical examination. She admitted that her last menstrual period was different from her usual menstrual periods. Because CSP or cervical pregnancy was suspected, we performed computed tomography (CT) for a definitive diagnosis. The CT scan showed an intrauterine gestational sac in the lower uterine segment bulging through the anterior uterine wall at the site of the cesarean scar. No invasion of the urinary bladder was observed (Fig. ). On presentation, her β-human chorionic gonadotropin (β-hCG) level was 66,536.8 IU/L (Day 1). Initially, we injected 50 mg of methotrexate (MTX) mixed with 9 mL of normal saline in the amniotic sac through a 22-G needle transabdominally under USG guidance. Simultaneously, 2 ml of amniotic fluid was aspirated for termination of the pregnancy. However, fetal cardiac activity was still observed 2 days later (Day 3), without significant changes in the serum β-hCG levels (65,342.5 IU/L). We decided on laparotomy instead of laparoscopy because of the large CRL (Day 4). The intraoperative finding showed bloody amniotic fluid, blood clot, placenta, and a fetus at the lower segment of the uterus. A transverse uterine incision was made at the lower segment of the uterus (Fig. ). The gestational sac was removed, as well as most of the trophoblastic tissues that were adherent and invading the wall of the lower uterine segment. The fetus and placenta showed no definitive abnormalities (Fig. ). The estimated blood loss was 1.2 L at intra-operation, without immediate complication. The uterine defect was repaired into two layers by using 2–0 Vicryl sutures. Our patient received 3 units of packed red blood cells (PRBC) at the ward postoperatively. The serial β-hCG level was 1958 IU/L at 4 days after the surgery (Day 8). She was discharged in good condition 5 days after the operation (Day 9). After 1 month (Day 39), her β-hCG levels returned to normal (2.8 IU/L). She was very satisfied with the fact that she had recovered well without the need for intensive care or further treatment without the need for hysterectomy. |
pmc-6404344-1 | A 19 year old Caucasian woman presented to the emergency department (ED) with generalised myalgia, fevers and low back pain on the background of two weeks of coryzal symptoms. She had no significant past medical history and her only medication use was the combined oral contraceptive pill, taken for menorrhagia. She denied any history of illicit drug use nor any family history of coagulopathy, connective tissue or renal disease. She was a student at the local university and did not smoke or drink alcohol on a regular basis. She demonstrated no elicitable flank tenderness but did exhibit mild suprapubic tenderness. Her renal function was normal (Cr 68 μmol/L) and her inflammatory markers were elevated. Urine dip revealed moderate pyuria, 1+ proteinuria and heavy microscopic haematuria, which was attributed to menstruation (which had finished 24 h beforehand). She was mildly tachycardic (heart rate 110) and mildly hypertensive (blood pressure 138/88 mmHg) with a low-grade fever (37.5 °C). A presumptive diagnosis of urinary tract infection on the background of viral illness was made and after 24 h observation she was discharged on oral antibiotics. Her urine culture showed mixed growth, likely to represent perineal contamination.
She presented again to the ED one week later with ongoing symptoms. In addition she now complained of ocular pruritus and a mild cough, productive of white sputum. Her inflammatory markers remained elevated and her creatinine, whilst still in the normal range, was elevated compared to previous (Cr 86 μmol/L). Her urine dip was similar to previous. She was reassured and discharged with the diagnosis of viral infection.
One week later she was re-referred to hospital by her general practitioner due to ongoing lethargy, medium and small joint arthralgia, pyrexia, nausea and now bilateral flank pain. There was no history of haemoptysis. On admission she was tender in both flanks and in the suprapubic region. She now demonstrated splinter haemorrhages in the fingernail beds and tender proximal interphalangeal joints without overt synovitis bilaterally. She had bilateral knee effusions. Her admission creatinine was 159 μmol/L. The course of her renal function with major clinical events is summarised in Fig. . She had a microcytic anaemia (haemoglobin 94 g/L) with a mild thrombocytosis (platelet count 581 × 109/L), leucocytosis (white cell count 27.3 × 109/L) and elevated erythrocyte sedimentation rate (86 mm/hr). Urinalysis demonstrated moderate proteinuria (quantified as equivalent to 1.2 g/day) and heavy microscopic haematuria. The initial diagnosis was of possible sepsis arising from an abdominal or endocarditic source. She was commenced on broad-spectrum intravenous antibiotics and a computed tomography (CT) of her chest, abdomen and pelvis revealed “multiple wedge-like areas of low attenuation in both kidneys consistent with infarcts”. There were two areas of ground glass shadowing in the right upper lobe of the lung, suggestive of pulmonary haemorrhage, though subsequently pulmonary function testing was not consistent with this (Fig. ).
An urgent transthoracic echo demonstrated normal cardiac size and function with no intracardiac thrombi or vegetations. Admission urine and serial blood culture were subsequently negative. Autoimmune serology yielded a cytoplasmic anti-neutrophil cytoplasmic antibody (cANCA) titre of > 1:40 with markedly elevated proteinase 3 (PR3) antibody and rheumatoid factor titres (170 U/mL [normal range < 3 U/mL] and 42 [normal range < 15 U/mL] respectively). Anti-nuclear antibodies, glomerular basement membrane antibodies, cryoglobulins, C3 and C4 levels were normal. Hepatitis B and C and Human Immunodeficiency Virus (HIV) serology was negative. On specific questioning it was revealed that both her mother and maternal aunt had a history of recurrent miscarriages: however a thrombophilia screen was negative (Table ).
CT angiogram revealed normal large vessels but multiple bilateral renal infarcts and splenic infarcts (Fig. b), which, on retrospective review, were present on the admission CT (Fig. a). Due to the slightly atypical splenic distribution of the infarcts, sulphur hexafluoride microbubble (SonoVue, Bracco UK) contrast-enhanced ultrasound (CEUS) was performed, which confirmed the ischaemic nature of the splenic lesions, with > 50% normal splenic enhancement but multiple areas of wedge-shaped non-enhancement at 2 min post contrast (Fig. c and d). The patient was initially anticoagulated with high-dose low molecular weight heparin and was converted to oral anticoagulation with warfarin after renal biopsy.
Renal biopsy demonstrated a necrotising crescentic glomerulonephritis (crescents seen in 17 of 25 glomeruli), extensive mononuclear interstitial infiltrate, frequent tubular red cell casts and 30% interstitial fibrosis and tubular atrophy. There was no evidence of extraglomerular arteritis.
A diagnosis of PR3 AAV involving small and medium vessels was made and treatment was initiated (48 h after admission) with intravenous methylprednisolone followed by oral prednisolone. The patient subsequently received two doses of 1 g rituximab at a fortnightly interval. Renal function has continued to deteriorate throughout the investigative process and peaked at around 400 μmol/L. Once plateaued at this level the patient was discharged on a weaning course of corticosteroids.
On review in clinic around one month later the patient’s symptomatology was much improved and her creatinine was starting to fall (Fig. ). Repeat PR3 titre was 22 U/mL. Most recent testing, 16 weeks after initial presentation, demonstrated a creatinine of 196 μmol/L, erythrocyte sedimentation rate of 27 mm/hr. and a mild leucocytosis (white cell count 16.1 × 109/L). Systemic oral anticoagulation is intended to continue for six months after presentation. |
pmc-6405329-1 | A 48-year-old woman, never smoker, with past history of Lyme disease presented with non-resolving cough of six-month duration and progressive dyspnoea on exertion. She was on chronic therapy with azithromycin, minocycline, and plaquenil for Lyme disease. Her prior workup included autoimmune serologies for connective tissue disease, which were negative. A contrast-enhanced computerized tomography (CT) scan of the chest revealed a well circumscribed 16-mm lingular nodule. Pulmonary functions tests revealed normal expiratory flows and lung capacity. A follow-up CT scan of the chest was performed that revealed increase in the size of lingular nodule and associated bilateral central lung opacities. Some of the opacities demonstrated a central ground-glass opacity surrounded by denser air-space consolidation consistent with the reversed halo sign (Fig. A, B). Patient subsequently underwent diagnostic and therapeutic bronchoscopy and was found to have partially obstructing lesion, with intrinsic and extrinsic component, in the inferior lingula sub-segment of the left upper lobe. Transbronchial biopsies of the tumour and lung parenchyma were performed, which showed carcinoid tumour and OP, respectively. Mechanical debulking of endobronchial tumour was performed using large (2.8 mm) biopsy forceps along with balloon dilation and therapeutic aspiration. A repeat CT scan of the chest was performed a month later and prior to planned surgical resection; this revealed near complete resolution of lung opacities (Fig. ). Subsequently, she underwent left thoracotomy with lingulectomy for complete resection of the tumour and currently has complete resolution of her initial presenting symptoms. |
pmc-6405420-1 | A 20-year-old Finnish male patient is the second-born child of healthy, non-consanguineous parents with an unremarkable family history. His close relatives had no manifestations of thyroid or heritable endocrine diseases. The perinatal period was uneventful, however, deficits in eye contact behavior were noted from early infancy onwards. By the preschool age, he demonstrated behavioral difficulties resembling those associated with autism, including perseveration and impairments in social interactive behavior including avoidance of strangers. Abnormal responses to auditory, olfactory, and oral sensory stimuli were noted. Motor and phonic tics as well as obsessions appeared in adolescence being periodically severe. At the age of 6;9 years, the patient received the diagnoses of pervasive developmental disorder-not otherwise specified and mild intellectual impairment, with these later, at the age of 11;2 years, having been modified to infantile autism and moderate intellectual impairment. Behavioral problems included aggressive behavior, which resulted in treatment with risperidone being initiated at the age of 12 years. Initially the antipsychotic slightly appeared to reduce behavioral difficulties while at the same time resulting in rapid weight gain and nightmares. Within 6 months, risperidone was substituted with aripiprazole. Aripiprazole caused initially fatigue, muscular spasms of jaw, and slurring of speech at the dose of 5 mg/day. After a break for several months, aripiprazole treatment was continued and the dose was slowly increased to 7.5 mg/day. Agitation and disturbing daily RRBs such as switching on and off a water tap, checking, and jumping led to the combining of citalopram to the medication at the age of 14;10 years. Nevertheless, the gradually increased dose of citalopram to 20 mg/day did not improve the situation and especially food-related obsessions and constant weight gain appeared problematic. Craving of food, particularly sweet drinks, led the patient to e.g., steal food. A temporary increase in alanine transferase (ALT; 77 U/L, reference range <40 U/L) together with a slight decrease in thyroxin (T4) levels (11 pmol/L, reference range 12–20 pmol/L) were observed. In the laboratory tests prior to commencing the liraglutide treatment, ALT was diminished (56 U/L), γ-glutamyltransferase (γ-GT) normal (<50 U/L), serum TSH 1.3 mU/L (reference range 0.2–4.2 mU/L) with the values for lipid metabolism, blood count, creatinine, and fasting glucose being within the normal range. In metabolic screening, urine amino acids, oligosaccharides, and glycosaminoglycans were within the normal range, similarly EEG was normal. Further, karyotyping and fragile X studies resulted in normal findings. Ophthalmological examination revealed hyperopia (+5.0/+5.0) that was treated with glasses. Hearing was normal in the otoacoustic emissions test.
Within the cognitive domain, the patient's cognitive functioning was commensurate with the level of moderate intellectual impairment (full scale intelligence quotient 43) at the age of 19;3 years. His verbal comprehension, perceptual reasoning, and processing speed indices were at the very poor level (50, 50, and 64, respectively), with the working memory index being slightly better (71). In terms of memory, rote learning and digit span were within the normal range with all other functions being notably compromised. His level of autistic symptoms as assessed across lifespan were significantly elevated (Social Communication Questionnaire life-time version score 24). Similarly, his level of social functioning was moderately impaired (Social Responsiveness Scale T-score 69, with most pronounced deficits seen in social cognition and autistic mannerisms). In the Strengths and Difficulties Questionnaire as responded by parents, hyperactivity and friendship scales resulted in aberrant scores. There were also significant OCD symptoms as assessed by the OCI-R (29 points). In terms of adaptive functioning, results from the Vineland-II Adaptive Behavior Scales at the age of 19;3 years indicated a low level of functioning overall, with the following mental age equivalents for subdomains: receptive communication 6;6, expressive communication 12;3, written communication 15;3, personal daily living skills 10;6, domestic daily living skills 9;6, community daily living skills 13;00, interpersonal relationships 3;10, play and leisure time 4;7, coping skills 7;1. In addition, both internalizing and externalizing maladaptive behaviors were at a clinically significant level. In childhood, the patient's rehabilitation has included both speech therapy and occupational therapy.
Treatment with liraglutide was initiated with a dose of 0.6 mg/day and being gradually increased to 2.4 mg/day during the following 8 weeks. Immediate positive response was observed in the patient's food-related behavior manifesting as drastically subsided obsessive food-related thoughts, craving for food, and compulsive eating. After first week of treatment, a clear reduction in patient's body weight was seen (). Also obsessions, compulsions and behavioral problems not related to food, including aggressive behavior, decreased in a significant way at home. The treatment was continued 36-weeks with the dose 2.4 mg/day. At the time-point 8 weeks, the weight was already reduced by 6%. From week 25 to the end of the follow-up the weight reduction settled at 12–13%. In the laboratory control at 8 weeks, the standardized oral glucose tolerance test was normal (glucose 5.3 and 4.6 mmol/L before and 120-min after the glucose administration, respectively). In later control fasting glucose and insulin levels were normal. No adverse side effects of liraglutide were observed in our patient case. |
pmc-6406048-1 | Male patient, 74 years old, nine years post right videolaparoscopic radical nephrectomy for grade 2 clear-cell adenocarcinoma, T3BN0M0 (not subjected to systemic chemotherapy), during annual onset on private practice setting, it was found a gallbladder polyp with 0.7 × 0.7 cm on computed tomography (CT). He was completely asymptomatic. After one year, in 2017, CT was repeated with evidence of polyp growth to 1.7 × 1.3 cm. Investigation was complemented with Magnetic Resonance Imaging (MRI), which evidenced T2-weighted hypointense and T1-weighted hyperintense lesion, with early and persistent contrast enhancement and exophytic bulging of the underlying outer vesicular margin, showing irregular contours (A and B). T1-weighted hypointense and T2-weighted slightly hyperintense nodular formation was also evidenced in the body portion of the pancreas, with 1.5 × 1.2 cm (). Chest CT and bone scintigraphy were also conducted, which showed no secondary lesions in bones and lungs. He had no alteration in laboratory exams () [].
One month later, the patient was subjected to videolaparoscopic cholecystectomy associated to endoscopic ultrasound (EUS) intraoperatively for investigation of the pancreatic nodule.
The anatomopathological examination of the surgical specimen - gallbladder () was compatible with infiltrating metastasis from clear-cell carcinoma of primary renal site, showing the following markers at immunohistochemistry: vimentin, AE1AE3, CD10, RCC and Racemase-focal (, A and B). At EUS, a solid, hypoechoic, homogeneous, oval nodule with 14 mm was found, with hypoechoic halo in the body region of the pancreas, in the projection of splenomesenteric confluence, next to the splenic vein. Puncture of the lesion was conducted, which cytology was suggestive of clear-cell carcinoma. Because this is an indolent disease with oligometastasis, local ablative treatment with fractionated stereotactic radiation therapy with a dose of 40 Gy was selected. The patient has stable disease one year after radiation therapy.
IMAGE 1A: Expansive formation on the right lateral body wall of the gallbladder, with 1.7 × 1.3 cm, showing pronounced early and persistent contrast enhancement and promoting exophytic bulging of the underlying outer vesicular margin, which shows irregular contours (Red circle). 1B: T2-weighted hypointense expansive formation in the right lateral body wall of the gallbladder (Yellow circle) and T2-weighted slightly hyperintense nodular formation in the body portion of the pancreas (White circle).
IMAGE 2: T1-weighted hypointense nodular formation in the body portion of the pancreas with 1.5 × 1.2 cm (circle).
IMAGE 3: Metastatic renal cell carcinoma as a well-circumscribed polypoid mass in the gallbladder body (circle).
IMAGE 4: Gallbladder with areas of mucosal erosion (arrow) and metastatic neoplastic process constituted of wide and clear cytoplasm cells, permeating the wall of the organ (circle).
IMAGE 5: Immunohistochemistry A: Neoplastic cells evidencing CD10 immunolabeling positivity. B:Neoplastic cells evidencing “Renal Cell Carcinoma” (RCC) immunolabeling positivity. |
pmc-6406064-1 | A 35-year-old woman presented to the Royal United Hospital in Bath (United Kingdom) Emergency Department in October 2017 with a three-day history of new onset epigastric pain radiating to the back, associated with vomiting and reduced nutritional intake over several weeks. She had a history of alcohol excess, but her family confirmed she had been abstinent for 3 months before admission. Her medical history included anxiety and depression, which were untreated at the time – her selective serotonin reuptake inhibitor had been stopped several weeks earlier. She also reported chronic back pain, for which she self-medicated using over-the-counter analgesia. She denied ever discussing her self-medication with a health care professional. She had no known gallstone disease and was taking no prescription medications at the time. No further relevant medical, family, or social history was recorded. On examination, she was tachycardic and her abdomen was very tender across the epigastrium.
During the admission clerking, she reported longstanding excessive self-medication with oral antacids and over the counter analgesia. She reported consuming up to 72 calcium carbonate with heavy magnesium carbonate tablets (Rennie Peppermint, Bayer plc, Reading, United Kingdom) per day and 600 mL of sodium alginate with sodium bicarbonate and calcium carbonate liquid (Gaviscon Original Aniseed Relief, Reckitt Benckiser Healthcare Limited, Hull, United Kingdom) per week over the past 8 months to tackle reflux symptoms. Both these medications are rich in calcium (,). She also reported taking up to 6 g of ibuprofen and 7.5 g of paracetamol per day for her back pain – respectively 2.5 and 1.9 times the maximum recommended daily doses for adults according to the British National Formulary ().
Admission blood tests showed raised white cells (19.2 × 109/L), C-reactive protein (118 mg/L), and amylase (2121 U/L). Corrected calcium was raised at 3.82 mmol/L. Venous blood gas highlighted a metabolic alkalosis, with pH 7.451 and raised base excess (+3.8 mEq) and bicarbonate (28.1 mEq/L). Deranged liver function and clotting were also found. Ultrasound scan of the abdomen detected no gallstones. Due to raised calcium, she was treated for hypercalcemic acute pancreatitis secondary to excessive antacid administration (Modified Glasgow Score: 2). This was described as acute pancreatitis secondary to milk-alkali syndrome with preserved renal function (). She underwent aggressive intravenous and oral fluid resuscitation to lower calcium and replace electrolytes. She also received N-acetylcysteine for accidental paracetamol overdose, and vitamin K for deranged clotting. Her adjusted calcium dropped steadily throughout hospitalization, reaching its trough on day 6 (1.70 mmol/L) and resulting in severe rebound hypocalcemia. This was attributable to sudden discontinuation of antacids and calcium sequestration due to acute pancreatitis (). Oral and intravenous replacement restored normal calcium levels (adjusted calcium 2.29 mmol/L on discharge on day 10).
In addition, on day 2 after admission her hemoglobin dropped significantly (90 g/L to 65 g/L). Due to the history of excessive non-steroidal anti-inflammatory drug use, urgent gastroscopy was carried out to exclude peptic ulcer bleeding. Two non-bleeding 10 mm gastric ulcers were found at the incisura and pylorus. Rapid urease test was negative, associating the ulcers with non-steroidal anti-inflammatory drug-induced gastric irritation. Her drug chart showed that she had received over 5.5 L of intravenous fluids in 24 hours, before the hemoglobin drop. The hemoglobin drop was attributed to hemodilution – this recovered steadily after 2 units of packed red blood cells. High dose proton pump inhibitor was also commenced to treat the ulcers.
Ten days post-admission, her electrolytes normalized, inflammatory markers improved, and pancreatitis symptoms resolved. She received counselling regarding excessive self-medication and reported to understand its serious consequences at the time. She was advised to seek further support in relation to her self-medication and mood, and follow-up was arranged to see community mental health services. The patient was discharged home with gastroenterology follow-up. Six months later she remained asymptomatic, with normal electrolytes and no further evidence of excessive self-medication. A timeline of events can be seen in . |
pmc-6406136-1 | A 76-year-old Caucasian male was followed in the gastroenterology unit because of alcoholic liver cirrhosis (ALC) due to a daily consumption of 0.75 L of wine over the past two decades. He had a history of type 2 diabetes mellitus, hypertension, hyperlipidemia, osteoarthritis, previous cholecystectomy, and carotid endarterectomy of the right common and internal carotid artery. He was diagnosed with ALC two years ago when he presented with an episode of hematemesis and melena. During hospitalization, he underwent esophagogastroduodenoscopy (EGD) that revealed signs of ALC-decompensation with grade 2 esophageal varices and portal hypertensive gastropathy. Abdominal ultrasound examination confirmed signs of liver cirrhosis. A computerized tomography of the abdomen showed dilatation of the paraumbilical veins (Figures and ). Blood analysis showed a spontaneously elevated international normalized ratio (INR), hypoalbuminemia, elevated liver enzymes, and anemia. His treatment consisted of a daily dose of omeprazole 20 mg, aldactone 100 mg, propranolol 40 mg, furosemide 40 mg, sodium picosulfate 5 mg, insulin lispro 4 units as needed, and oxazepam 5 mg as needed. After discharge from the hospital, he was followed regularly in our gastroenterology unit. Unfortunately, he continued drinking heavily and over the last year of care, he started taking oxazepam regularly, but without a prescription and at unknown doses. Two years after the ALC diagnosis, he was admitted to the hospital due to a new episode of decompensation with gastrointestinal bleeding and liver encephalopathy. He had signs of portal hypertension, manifesting as distended and engorged superficial epigastric veins radiating from the umbilicus across the abdomen. Three days before admission to the hospital, he abruptly quit drinking which resulted in withdrawal symptoms such as tremor, tachycardia, and anxiety. Now, he had developed liver encephalopathy and was discharged with the instruction that he take lactulose 20 g twice daily and ferrous sulfate 100 mg twice daily. He was also strongly advised to abstain from alcohol. Only 10 days after discharge from the hospital, he was re-admitted for severe bleeding from a superficial epigastric vein. His wife had found him lying on the floor with impaired consciousness and copious amounts of blood spurting from a distended vessel in the umbilical area. According to the ambulance report, the patient had no abdominal pain prior the episode and suddenly started bleeding from the umbilicus. In the emergency room, a rupture in the caput medusae vessel was revealed, but bleeding could be stopped with pressure bandage. Hemodynamics and respiration were stable after administration of Glypressin (terlipressin) and intravenous fluids. He stated he had not adhered to his prescribed medications and that he had only been taking ferrous sulfate. The next day while still in the hospital, he took a shower, causing the pressure bandage to come loose, resulting in a torrent of blood rushing out of one of the umbilicus vessels. The area was sutured closed under local anesthesia and the bleeding stopped. The patient refused to stay in the hospital and was discharged the next day.
One month later, the patient's wife summoned help because she thought he had died. According to the medical records from the general practitioner who visited patient´s home and confirmed his death, the patient was about as usual the evening before. The wife found him dead the next morning in bed. After physical examination, the physician concluded the cause of death was massive bleeding from a ruptured caput medusae vessel. The volume of blood that was found all over the body, his clothes, in the bed, and on the floor was large, possibly a few liters. When the physician removed the bandage from the vessel and compressed the abdomen on the caput medusae, dark blood poured out from an opening in one of the vessels of the caput medusae. Based on the patient's medical history and prior similar episodes of bleeding at the umbilicus area, the physician determined the cause of death to be fatal bleeding from the caput medusae. An autopsy was deemed unnecessary. |
pmc-6406141-1 | An 85-year-old woman with type 2 diabetes mellitus presented to the emergency department of our hospital with coma and shock. She had not visited any hospital previously, had never been examined for complications of diabetes, and had never consumed any medications before. On admission, her vital signs were as follows: consciousness, Glasgow Coma Scale score 3/15 (E1V1M1); blood pressure, 80/40 mm Hg; pulse rate, 130 bpm; and temperature, 37.3°C. Laboratory analysis revealed neutropenia (neutrophils count, 640/µL) and elevated C-reactive protein level to 12.73 mg/dL. The levels of blood glucose and hemoglobin (Hb)A1c were 237 mg/dL and 12.1%, respectively. Blood and urine cultures showed the presence of Escherichia coli. CT of the abdomen and pelvis without contrast revealed diffuse gas collection within the urinary bladder wall (Figures , , ), which is a typical sign of EC caused by gas-forming bacteria., The patient was intensively treated with a broad-spectrum antibiotic meropenem hydrate and a vasopressor, and was put on respirator and catheterized; however, she died within 2 days due to circulatory failure. Based on literature review, including our study, from 2016 to 2018 in Japan, the mortality rate of EC is 26% (Table ). This study may provide a new insight into this disease. |
pmc-6406142-1 | A 27-year-old female patient was presented to our emergency room with post-traumatic amnesia and pain in the abdomen after a reported car accident. Hemodynamically-respiratorically stable, GCS 15∕15, normal papillary response, tetrakinetic, without any neurologic deficit. CT scan findings suggested mild spleen injury, and fractures of the L1, L2 without dislocation or compression of the spinal canal. She was admitted to our surgical department for monitoring and conservative treatment with lumbar brace. In the brain ct, a round bone density extra-axial mass (1.1 cm) was depicted in the area of the right frontal lobe.
The differential diagnosis was problematic due to the fact that the lesion was small and the slices thick (5 mm) because the CT was performed as routine examination in order to exclude any major traumatic finding. After reconstruction, the radiologic features indicated an intracranial osteoma of the right anterior cranial fossa (Figures and ).
Osteomas of the skull base are rare. Their clinical presentation can vary depending on location and size. CT is the preferred imaging method. They are usually seen as a homogenous hyperdense mass. Differential diagnosis includes various types of benign bone tumors, epidermoid tumor, calcified meningioma, extra-axial gliomas, parasite infection, and post-traumatic porencephaly. Management can be surgically challenging in large osteomas., Due to the small size of the lesion and the absence of symptoms, short-term follow-up was decided in our case. |
pmc-6406149-1 | We present the case of a 42-year-old woman operated 20 years ago of bilateral parotidectomy for S. of Mikulicz. Her past medical history is pertinent for endoscopic sinus surgery for chronic rhinosinusitis, vocal cord surgery for a benign cyst,, and benign paroxysmal positional vertigo. She develops the signs of FS a few months before arriving in our unit, with reddening and sweating of the facial cutaway during the stimuli that produce salivation.
We diagnosed the FS with the Minor test. Preauricular area and cheek were covered with an iodine solution (15.0 g iodine, 100.0 g castor oil, 900.0 mL 70% alcohol). Then, the starch powder was applied on the dried iodine covered area (Figure ). For the visualization of the symptoms, patients ate a candy for about 8 minutes. When brown-violet areas appear on the skin, the test is considered positive (Figure ).
The injection of the affected area of botulinum toxin type A Allergan 50 UI/mL is carried out. For treatment, the area was subdivided into squares of 1 cm2 for a better distribution of the drug (Figure ). About 4.0 U of BTXA per cm2 were injected intracutaneously. The subjective absence of sweating and other symptoms of the syndrome defined the success of treatment. We performed a follow-up at 1, 3 months, and then every 6 months to evaluate the possible disadvantages that may occur: dry mouth, weakening of the facial muscles, eyelid ptosis, facial paralysis, as well as short-term local reactions of pain, edema, erythema, and ecchymosis. After about 25 months from the first injection, the patient will revert the signs of FS, which is confirmed by the repetition of the Minor test. We repeated the injection of botulinum. To date, after three years since the last botulinum injection, with a semi-annual follow-up, there are no signs of FS. |
pmc-6406150-1 | A 62-year-old man underwent sigmoidectomy after being diagnosed with sigmoid colon cancer and multiple metastases in the liver (S3, S4, S6, and S8) at a nearby hospital. The histopathological diagnosis of the sigmoidectomy specimen was adenocarcinoma, type 2, por1>tub2, pT3N1M1a(H2), pStage IV according to the TNM classification. The tumor had a wild-type KRAS status. The liver metastases were deemed unresectable because they invaded the umbilical portion; therefore, the patient underwent eight cycles of adjuvant chemotherapy with 5-fluorouracil and oxaliplatin (FOLFOX) + panitumumab. Follow-up abdominal computed tomography after completing chemotherapy showed remarkable shrinkage of the liver tumors; a partial response was observed, that is, a 44% decrease in the sum of target lesions according to the revised Response Evaluation Criteria in Solid Tumors, version 1.1, guidelines. Afterward, the patient was scheduled to undergo five cycles of the same chemotherapy for further shrinkage of the tumor; however, because panitumumab-induced adverse effects appeared, three of these cycles comprising FOLFOX only were administered. Following these chemotherapy cycles, the patient had stable disease, with only slight reductions in tumor sizes, that is, a stable disease with a 10% decrease in the sum of target lesions (Figures and ). The lesions were deemed resectable at this point, that is, 15 months after the initial sigmoidectomy. The patient underwent left hepatic trisectionectomy and partial posterior segmentectomy accompanied by partial right hepatic vein resection three weeks after treatment with percutaneous transhepatic portal vein embolization therapy at the left and anterior segment branches of the portal vein. The surgery lasted for 630 minutes, and the intraoperative hemorrhage volume was 3540 mL.
Gross examination of the hepatic lesion showed that all tumors exhibited a confluent multinodular growth. Cross-sections of the tumor showed white to yellowish-white, with varying edematous and sclerotic background (Figure ). Histopathological examination revealed that most of the tumors had relatively uniform oval nuclei and eosinophilic cytoplasm. In most areas of each lesion, the tumors showed an organoid growth pattern without forming conspicuous glandular lumens. These histopathological findings were not typical of colon cancers.
Immunohistochemical examination revealed positive stainings for synaptophysin and CD56 in most areas of each lesion, and chromogranin A was also weakly positive (Figure ). The morphological and immunohistochemical findings of these tumors resembled neuroendocrine carcinoma (NEC), which was considered among the differential diagnoses of MANEC. To make a definitive diagnosis, we assessed the primary tumor of the sigmoid colon and found the areas consistent with NEC. The morphological and immunohistochemical patterns of the primary tumor were similar to those of the liver tumors, and the Ki-67 labeling index was 57.7%. In addition, there were dominantly adenocarcinomatous components that formed glandular lumens with immunohistochemically positive staining for carcinoembryonic antigen (CEA) (Figure ). Furthermore, because these components, each of a NEC and an adenocarcinoma, accounted for ≥30% of the areas of each lesion, the final histopathological diagnosis was MANEC of the colon with multiple liver metastases. In some areas, CEA-positive cells were partly overlapped with NET marker-positive cells, so we considered that the primary tumor was an amphicrine tumor rather than a collision tumor. Although there were no conspicuous glandular lumens in the liver tumors, we confirmed positive staining for CEA in the liver tumors and in the areas forming the glandular lumens by immunohistochemistry. The histological effect of chemotherapy was equivalent to grade 2, according to the Evans classification system.
The patient commenced oral capecitabine administration after surgery, but recurrences of the liver metastases were observed in the caudate lobe and retroperitoneum. The patient died of cancer 17 months after the liver resection, that is, 35 months after the initial sigmoidectomy. |
pmc-6406152-1 | A 16-year-old male with a history of synovial sarcoma of the right posteromedial knee undergoing induction chemotherapy presented with a one-day history of left upper quadrant abdominal pain and fever. Pain was not associated with eating, stooling, nausea, or vomiting and was only minimally relieved with oxycodone 5 mg. Physical examination revealed left upper quadrant tenderness, however, no guarding or rigidity. There were no other localizing signs of infection. The patient had his port accessed for labs recently, placing him at risk for bacteremia. Initial laboratory workup revealed a white blood cell count of 21 500, C-reactive protein (CRP) of 3.01, and a normal lactate. Blood cultures and urine culture were also obtained prior to antibiotic initiation. He was hospitalized and started on cefepime. Abdominal tenderness was attributed to constipation due to recent history of hard stools and was treated with a bowel regimen.
After three days of therapy, fever and abdominal pain persisted with a rising white cell count to 38 800 and CRP of 29.86. Blood cultures (including fungal culture) and urine culture showed no growth. Antibiotic coverage was expanded to include vancomycin. Abdominal CT was performed due to concern for an abscess, which revealed moderate retained fecal material, asymmetric thickening and edema of the left lateral abdominal wall musculature, reflecting myositis, and mild splenomegaly, however, no intra-abdominal abscess. He also developed 2-3 cm, tender, blanching erythematous patches on his abdomen and upper right arm (Figure ). Workup was initiated for septic emboli and was negative. New lesions continued to erupt, with expanding size of previous lesions. This included a large plaque on the left abdomen/flank where his previous abdominal pain was located. Further history revealed that a similar lesion occurred on his left chest wall after his second cycle of chemotherapy during an admission for febrile illness and resolved after discharge (Figure ). Chart review revealed that the patient had received pegfilgrastim twelve days prior to the onset of his current skin lesions and within eleven days of his initial eruption (Table ). He received doxorubicin and ifosfamide in his first two cycles of chemotherapy and ifosfamide alone during his third cycle of chemotherapy (Table ). During his hospitalization, he received cefepime for a total of six days and vancomycin for a total of three days. Despite broad-spectrum antibiotics, he remained intermittently febrile and laboratory workup continued to demonstrate an upward trending CRP. Dermatology was consulted to perform a skin biopsy of his lesions. Per their recommendations, he was started on prednisone therapy to treat presumed acute febrile neutrophilic dermatosis and antibiotics were discontinued. Lesions started to rapidly resolve within 24-48 hours of therapy initiation. Additionally, CRP started to improve within 48 hours of starting steroids. Dermatopathology revealed sparse neutrophilic infiltrate focally involving the eccrine unit, suggestive of NEH (Figure ). Culture from the skin biopsy specimen showed no growth of aerobes, fungi, or Mycobacterium tuberculosis. He was discharged home after his clinical condition improved on a two-week course of oral steroids. Because pegfilgrastim was determined as the likely causative agent, it was discontinued. He subsequently received four more cycles of ifosfamide and doxorubicin without pegfilgrastim and did not have recurrence of his skin lesions (Table ). In retrospect, his initial eruption was also likely due to NEH given lack of improvement with antibiotics but improvement with steroids which were coincidentally given for nausea. |
pmc-6406153-1 | A 61-year-old female had undergone a dual chamber pacemaker for high-degree atrioventricular block with exertional dyspnoea in 2004 with a dual chamber pacemaker incorporating an active fixation lead to the RV apex (Guidant 4064) and a passive lead to the right atrial appendage (Guidant 4097).
Two months prior to her presentation, she had received a new RV lead, placed to the right ventricular outflow tract (RVOT; Medtronic Capsurefix Novus 5076) due to an increase in her chronic RV lead threshold (1.75 V at 1 ms) and impedance value (increased from 650 ohms six months previously to 740 ohms). The postprocedural chest X-ray (CXR) and echocardiogram showed normal positioning of the pacing leads with no complication. She subsequently complained of intermittent chest pains and dyspnoea and was referred to our institution for further investigation. A CXR (Figure ), echocardiogram and pacemaker checks were satisfactory with the new RV lead having a stable threshold (1 V at 1 ms) and impedance value (570 ohms) since implantation. Despite this, given her clinical presentation and unexplained symptoms, the suspicion remained that the RVOT lead may have perforated through the myocardium. To investigate this further, a contrast-enhanced ECG-gated cardiac computed tomographic (CT) scan was performed. This showed normal siting of the new RVOT lead but the unexpected finding of myocardial perforation as a result of the chronic RV apical lead (14 years old lead; Figures and ). The case was discussed at a multi-disciplinary meeting, and a consensus reached for the perforated lead to be extracted. Following a discussion with the patient, it was decided to extract both her atrial and RVOT lead to enable the implantation of a fully MRI compatible device. The newly sited RV lead was removed with traction alone but a 14 Fr laser sheath was needed to extract both the chronically implanted RV and atrial lead in a hybrid lab without complication. A new dual chamber system was placed, and the patient was discharged home. Upon review in clinic, her symptoms had completely resolved. |
pmc-6406156-1 | An 89-year-old man was previously treated with EVAR for an infrarenal aortic aneurysm. A Zenith® LP (Cook Medical, Bloomington, IN, USA; graft diameter 28 mm) was previously used in an aortic neck of 23 mm diameter and 17 mm length. In the follow-up, CT imaging revealed a type IA EL with aortic neck dilatation (30 mm) and a stent graft migration of 8 mm below the left renal artery.
We decided to treat the type IA EL with a proximal cuff stent graft relining and endoanchor suture using 3D-IF guidance. In our HOR (Artis Zeego; Siemens Healthcare GmbH, Forchheim, Germany), the procedure was performed under general anesthesia with a bilateral percutaneous approach. The preoperative planning was performed on our 3D workstation (Leonardo, Healthcare Sector, Siemens AG, Forchheim, Germany), producing the previous 3D stent graft scaffolding and 3D vessels volume rendering, which included renal arteries and the type IA EL channel (Figure A,B). The fusion technique was performed to align the stent graft scaffolding VR to the live stent graft fluoroscopy in two projections: the antero-posterior and lateral views. This overlapping was obtained with stiff guides in place to offset arterial stretching (Figure A). After this procedure, we switched to the 3D vessels VR to obtain the final roadmap view for the 2D fluoroscopy (Figure B).
Using 3D-IF guidance, we deployed a proximal stent graft cuff (Endurant II, Medtronic, Santa Rosa, CA; graft diameter 36 mm).
In agreement with the instructions for use, we used Heli-FX endoanchors to fix the new stent graft to the aortic wall just below the renal arteries. We deployed six endoanchors circumferentially on the cuff in the four quadrants (30° RAO, 30° LAO and 90°C-arm angulation) and then created a “suture line” along the leak channel using the 3D-IF view (Figure A-B).
The total duration of the IF technique was 6 minutes, and the total procedure time was 34 minutes (12 minutes fluoroscopy time). No contrast was used during the procedure, and the radiation dose measured by the dose area product (DAP) was 8.3 Gy cm2. The predischarge CT showed the resolution of type IA EL, renal arteries patency, and the exact positioning of the endoanchors. |
pmc-6406157-1 | Α 19-year-old healthy male presented to our urology department complaining about one single painless episode of reddish urine discoloration. No other symptoms or sexual intercourse were reported at that time. There was no family history of hereditary or other serious acquired diseases. Moreover, no significant predisposing risk factors for bladder cancer were identified. Initially, our patient consulted a private urologist and underwent a full blood count test, urinalysis, transabdominal ultrasound, and computed-tomography urography (CTU). All laboratory tests were within normal limits and imaging modalities failed to indicate an intravesical papillary mass (Figures and ). A second similar episode of urine discoloration was reported, after a symptom-free period of six months. Surprisingly, it was investigated one more time with CTU by a private urologist, again not significant for a pathologic filling defect (Figure ).
Thereafter, our patient sought advice from our department and flexible cystoscopy was immediately performed. A well-defined single papillary mass, approximately <10 mm in size, involving the dome of the bladder was identified. Transurethral resection of bladder tumor (TURBT)
was subsequently performed with excision of the papillary lesion. Histopathology revealed a papillary urothelial neoplasm of low malignant potential (PUNLMP) with minimal atypia in the mid-to-basal cell layers of the urothelium and prominent atypia of the superficial cells (so-called “umbrella” cells). Some areas suggested an inverted component not regarded as an invasion.
Our patient recovered uneventfully and was suitable for discharge following day surgery with recommendations for follow-up at three and six months. At 3- and 6-month visits, cystoscopic findings were normal with no signs of recurrence. Follow-up screening strategy included urine tests and flexible cystoscopy on a yearly basis for the next five years. |
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.