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pmc-6440031-1 | A 52-year-old man presented for clinical evaluation of progressive yellow discoloration of eyes and skin over the course of 2 months. He was in his usual state of health until August 2018, when he strained his right shoulder. For symptomatic pain relief, he started taking kratom, an over-the-counter herbal supplement for pain control. He reported taking kratom, along with acetaminophen, for almost 2 months as 800 mg of acetaminophen twice daily alone did not alleviate his pain. He started taking kratom, at first twice a day for a few days, and then once a day. He took kratom in the form of crushed leaves with water, 1 teaspoonful (approximately 1.5 g) daily. He was on kratom from early August until October 6, 2018, for about 2 months. At presentation on October 22, 2018, he reported mild fatigue. According to his friends, there were no changes in mental status suspicious for hepatic encephalopathy. He was found to have an elevated bilirubin level of 23.2 mg/dL on workup of his jaundice. Total bilirubin peaked approximately 10 days later at 28.9 mg/dL. International normalizes ratio levels were within normal range. Aspartate aminotransferase was 55 U/L, alanine aminotransferase 66 U/L, alkaline phosphatase 255 U/L, and lipase 156 U/L. Magnetic resonance imaging of the abdomen did not reveal any signs of intrinsic liver disease and showed patent biliary ducts. Workup for known causes of chronic liver disease was negative. A liver biopsy was performed, which showed an adequate number of portal tracts present for evaluation. There was marked canalicular cholestasis. The portal tracts contained mixed inflammation of lymphocytes, eosinophils, and some neutrophils. Some bile ducts showed features of injury, such as epithelial disarray, cytoplasmic eosinophilia, and lymphocytes within the epithelium. There was mild bile ductular reaction without loss of bile ducts. No appreciable interface activity or portal edema was identified. The hepatic lobules possessed features of recent injury, including a mild sinusoidal mononuclear infiltrate, Kupffer cell hyperplasia, and lobular and periportal ceroid macrophages. Rare acidophil bodies and rare foci of spotty necrosis were noted. No significant steatosis was appreciated. Trichrome stain revealed no histological evidence of fibrosis. Diastase-pretreated periodic acid-Schiff stain highlighted ceroid macrophages but did not demonstrate periportal eosinophilic globules, lending no support for α-1-antitrypsin deficiency. Rhodanine stain was negative for copper deposition. Prussian blue stain showed 2+ stainable hepatocellular and Kupffer cell iron. Reticulin stain revealed preserved hepatic plate thickness. Overall, it was suspected that these findings were consistent with acute cholestatic injury as a result of kratom-related DILI. He was prescribed 600 mg of ursodeoxycholic acid (UDCA), 3 times daily and followed conservatively. He was advised to avoid kratom and any other herbal supplemental products in future.
At a 2-week follow-up visit in the hepatology clinic, he denied any signs and symptoms of clinical deterioration. His energy level improved, and mental status remained intact. His physical examination was unremarkable except for deeply icteric sclerae. His follow-up bilirubin was higher and peaked at 28.9 mg/dL. He was followed closely with biweekly laboratory testing and was monitored for any signs and/or symptoms of liver failure. He was advised to continue UDCA, as well as to maintain a bland diet and adequate hydration. This led to rapid decline in total bilirubin levels from 28.9 to 4.0 mg/dL in next few weeks (). He was advised to avoid any use of kratom in future. UDCA was discontinued after 4 weeks following improvement in liver panel. |
pmc-6440096-1 | A 38-year-old man, who had been treated for mild bilateral panuveitis with topical steroid eye drops for 2 years, experienced severe fatigue and visited an internal medicine physician. Due to severe heart failure and infiltration of T-cells infected with EBV to the heart muscle, he was referred to the Department of Hematology of Tokyo Medical and Dental University (TMDU) Hospital. The peripheral blood mononuclear cells (PBMCs) obtained from patients were isolated by density gradient centrifugation using Separate-L (Muto Pure Chemical, Tokyo, Japan) and were sorted into CD19-, CD4-, CD8-, or CD56-positive fractions using antibody-conjugated magnetic beads (Miltenyi Biotec, Bergisch Gladbach, Germany; 130–050-301, 130–045-101, 130–045-201, 130–090-875). After that, the EBV DNA levels in the whole blood and each fraction were evaluated by real-time PCR using the TaqMan System (Applied Biosystems, Foster City, CA) []. The EBV-DNA load was determined to be 1.2 × 105 copies/μg DNA in the whole blood, and 1.7 × 104 copies/μg DNA in the CD4-positive T-cell fraction. Southern blot analysis for EBV-terminal repeat revealed the clonality of the EBV-infected cells []. From the clinical, serological, and pathological findings, he was diagnosed with CAEBV.
He was then referred to our clinic to screen for ocular involvements. Our examination showed that his best-corrected visual acuity (BCVA) was 20/16, and 1+ cells were detected in the anterior vitreous in both eyes. Systemic work-up for the differential diagnosis of uveitis including blood tests, tuberculin skin tests, and the chest X-rays did not suggest any specific type of uveitis such as sarcoidosis, ocular tuberculosis, syphilis, or human T-cell leukemia virus type 1 (HTLV-1) uveitis. He was being treated with 0.1% betamethasone eye drops 4 times a day which was continued.
Systemic immunotherapy: prednisolone 1–2 mg/kg/day and cyclosporine A 3 mg/kg/day was started for the CAEBV. The preparation for allogeneic stem cell transplantation was started simultaneously. However, 15 months later, he experienced a sudden visual disturbance of his right eye. His BCVA was decreased to 20/32. Slit-lamp ophthalmoscopy showed mutton-fat keratic precipitates (KPs), 2+ cells in the anterior chamber, and 2+ cells in the anterior vitreous of both eyes (Fig. a and b). In the right eye, the optic disc, fovea, and all of the retinal vessels were covered with white infiltrates (Fig.c). In the left eye, several white nodules were seen along the retinal veins and arteries (Fig. e). Fluorescein angiography (FA) demonstrated hyper-fluorescence of the optic disc, dye leakage from the retinal vessels, and stenosis of the retinal vessels of the right eye (Fig.d). The retinal vessels of the left eye were similarly narrowed by nodular lesions (Fig. f).
The right anterior chamber was tapped, and DNA was extracted from AqH sample using a DNA Mini kit (Qiagen, Valencia, CA). The DNA was then processed for multiplex PCR targeting specific genomic sequences of all 8 types of human herpes viruses, e.g. herpes simplex virus type-1 and 2, varicella-zoster virus, cytomegalovirus, EBV, and other pathogens including Toxoplasma gondii and Mycobacterium tuberculosis. Real-time PCR for ribosomal DNA of bacteria and fungi was also performed. The multiplex PCR and real-time PCR were performed using a LightCycler 480 II instrument (Roche, Basel, Switzerland). Primers, probes, and PCR conditions used for human herpes viruses, Toxoplasma gondii, Mycobacterium tuberculosis, and ribosomal DNA of bacteria and fungi have been described previously [–]. The results showed that only EBV-DNA was detected in the AqH with a load of 3.38 × 104 copies/ml. To determine the concentrations of interleukin (IL)-6 or IL-10 in the AqH, 50 μL of AqH supernatant was applied for enzyme-linked immunosorbent assay, according to the manufacturer’s instructions (Invitrogen, Camarillo, CA). As a result, IL-6 concentration was over 1000 pg/ml, whereas that of IL-10 was below the detectable level. PCR for T cell receptors (TCR) and immunoglobulin heavy chain (IgH) gene rearrangements was negative for clonality.
Because of the presence of CAEBV and detection of EBV-DNA in the AqH, we diagnosed the ocular involvements as uveitis related to CAEBV. The patient was treated with a sub-Tenon injection of 20 mg/0.5 ml of triamcinolone acetonide (STTA) and intravitreal injections of methotrexate (400 μg/100 μl) together with 40 mg of systemic prednisolone and 100 mg of cyclosporine daily. However, the ocular lesions did not respond. Finally, he underwent cord blood transplantation (CBT) using reduced-intensity conditioning in the Department of Hematology: fludarabine (Flu, 100 mg/m2, 4 doses), melphalan (Mel,70 mg/m2, 1 dose), antithymocyte globulin (1.25 mg/kg/day for 2 days), and low-dose total body irradiation (4 Gy). Although EBV-positive T-cells were not eradicated from the peripheral blood: the viral load of the whole blood was 4.3 × 103 copies/μg DNA, the intraocular inflammation completely disappeared in 8 weeks. We performed pars plana vitrectomy and endo-photocoagulation for epiretinal membrane and non-perfused area of the retina (Fig. g and h). Since then, the intraocular inflammation has been inactive for 5 years, and his last BCVA was 20/125 OD and 20/20 OS. |
pmc-6440096-2 | A 34-year-old man who had been treated with steroid eye drops for 5 months due to panuveitis was referred to our clinic. At his initial examination, his BCVA was 20/16 in both eyes. Slit-lamp examination showed mutton fat KPs and 1+ cells in the anterior chamber and the anterior vitreous of both eyes (Fig. a and b). Diffuse vitreous opacities were present in both eyes, and a snow ball-like vitreous opacity and disc hemorrhage were seen in the right eye by indirect ophthalmoscopy (Fig. c and e). FA demonstrated hyperfluorescence of the optic disc, and fuzzy dye leakage from the retinal capillaries of both eyes (Fig. d and f). Systemic examinations including blood tests, chest X-rays, and thoracoabdominal computed tomography (CT) scan enhanced with iodine were performed. Although the blood tests and chest X-rays did not suggest any specific uveitis entities, CT scan revealed the presence of splenomegaly and lymphadenopathy. We then consulted the Department of Hematology, and their examination showed 1.2 × 105 copies/μg of EBV-DNA in his peripheral whole blood. EBV infection of the CD4-positive T-cells and their clonal proliferation were confirmed by Southern blotting for EBV-terminal repeat. [] Endoscopic biopsies revealed that EBV infected T-cells had infiltrated his lungs and gastric mucous membrane. Concurrently, a tap of the anterior chamber of the right eye, and multiplex PCR followed by real-time PCR was performed as described in case 1, and EBV-DNA was detected in the AqH with 3.23 × 104 copies/ml. Cytokine measurements by ELISA (Invitrogen, Camarillo, CA) detected 386 pg/ml of IL-6 but IL-10 was undetectable. PCR for TCR and IgH gene rearrangement was negative for monoclonality.
As in Case 1, we diagnosed the ocular involvements as uveitis related to CAEBV, and we treated the patients with 0.1% betamethasone eye drops 4 to 6 times a day, applying one drop each time, followed by STTA, but the intraocular inflammation did not respond. Finally, allogeneic bone marrow transplantation (BMT) from one allele-mismatch unrelated donor using reduced-intensity conditioning was performed as follows; Flu (100 mg/m2, 4 doses), Mel (80 mg/m2), and low-dose total body irradiation (4 Gy). EBV-DNA load in the whole blood was 3.9 × 104 copies/μg DNA, and EBV-positive T-cells were not eradicated from the peripheral blood. However, the disease became inactive. The ocular lesions completely resolved after the HSCT. The BCVA at 6 months after BMT was 20/16 OU. |
pmc-6440104-1 | A 30-year-old Hindu man, vegetarian by diet, presented with complaints of chest pain and swelling for 4–5 months. He had a history of a swelling that intermittently increased in size and restricted shoulder movement. He was a poultry worker by profession. His socio-economic status was poor. Ultrasonography (USG) of his chest wall showed a small cystic lesion of 0.5 × 0.5 mm in the left-side of his chest wall with adjacent heterogeneous muscle; this indicated a possibility of left-sided chest wall intramuscular cysticercosis or an old hematoma. FNAC yielded 1 ml of granular, whitish fluid-like material (Fig. a, b). |
pmc-6440104-2 | A 23-year-old Hindu man, non-vegetarian by diet, presented with right-side neck swelling for 1 month. He had a history of right-side ear ache. USG of his neck showed a 2 × 1.5 cm irregular cystic lesion in right scalene muscle, possibly cysticercosis. FNAC was done which yielded 0.6 ml of whitish fluid-like material. Post FNAC, he had a reddish allergic reaction at local site (Fig. a, b). |
pmc-6440104-3 | A 26-year-old Hindu woman, pure vegetarian in diet, presented with complaints of right lateral calf swelling in the past 7 to 8 months. She had a history of chronic intake of salad and uncooked green vegetables. She had a history of intermittent increase in size of the swelling with radiating pain to lower extremity. The swelling subsided on hot bathing. No other swelling was noted and there was no history of trauma. USG of her right lower limb revealed a small hypoechoic lesion in intramuscular plane measuring 1.2 × 0.7 cm. On examination, the swelling over her right lateral calf region was an intramuscular, soft to firm cystic lesion that was 1.5 × 1 cm in size (Fig. a, b). The overlying skin was reddish with itching and tenderness. Aspirate of fine needle aspiration (FNA) was 0.5 ml of whitish granular material. |
pmc-6440104-4 | A 17-year-old Hindu boy, a vegetarian by diet, presented with swelling in the medial aspect of his right arm for 1 year. The swelling had gradually increased in size during the past 1 month. He had a history of itching near the swelling. On examination the swelling measured 3 × 2 cm; it was well defined and soft, and an itching scar mark was noted (Fig. a, b). No other swelling was seen. There was no history of trauma. A routine complete blood count was normal except for mild anemia. FNA yielded a drop of straw-yellow granular fluid. |
pmc-6440110-1 | The patient was a 53-year-old woman with a history of uterine fibroids and vaginal bleeding for many years who presented with a vaginal wall mass. She underwent total laparoscopic hysterectomy and resection of vaginal mass. Intraoperatively, it was noted that she had fibroids, and the bilateral ovaries and fallopian tubes were normal. There was a 5 × 8 cm mass arising from the right sidewall of vagina. |
pmc-6440113-1 | A 32 day old male infant was referred to our department, from another hospital, with acute respiratory distress syndrome and suspected congenital pulmonary malformation. The baby (fourth child of nonconsanguineous caucasian parents) was born by vaginal delivery at 37 weeks’ gestation, with a weight of 3140 g. The first month of life was unremarkable. The family had no history of genetic or metabolic diseases or congenital disorders.
At admission, the physical examination confirmed respiratory distress, general hypotonia due to respiratory failure and fatigue, bilateral inguinal hernia and deformities of the lower limbs (pes tortus congenitalis and hip dysplasia).
A chest X-ray (Fig. ) and computed tomography (CT) scan (Fig. , Panels a, b) showed severe hyperinflation of the apical segment of the left lung and mediastinal shift to the right. A presumptive diagnosis of congenital lobar emphysema (CLE), including the lower lobe was made. After the stabilization of the subject’s respiratory conditions (non invasive respiratory support, fluid and electrolyte management, broad spectrum antibiotics, bronchodilatator), considering the inclusion of the superior lobe and the upper part of the lower lobe we decided to proceed with observation.
Two months later, the child’s condition deteriorated with worsening in respiratory distress; the child was unable to maintain saturation even with oxygen support. CT-angiography (Fig. , Panels c, d) was ordered and revealed a severe lobar emphysema of the anterior to the apicoposterior segment of the left upper lobe, with displacement of mediastinal structures to the right and compression of the right structures. A subsegmental atelectasis and areas of air trapping in the apicoposterior segment of the left lower lobe were also noted. Angiography showed peripheral pulmonary vascular attenuation and central pulmonary artery enlargement.
Surgery included a left upper lobectomy and segmental resection of the left lower lobe. The histopathology report was consistent with a generalized lung growth abnormality with alveolar enlargement and simplification.
Following surgery, multiple attempts to extubate the infant failed and he had a persistent oxygen requirement. Chronic respiratory failure ensued with progressive worsening of the ventilatory performance, necessitating continuous mechanical ventilation, with gradual support parameter adjustments and tracheostomy at age 12 months.
After prolonged multidisciplinary discussion, the decision to perform a surgical thoracoscopic lung biopsy was made in order to obtain additional data on the pathological pulmonary features for prognostic predictions and therapeutic decisions. Histopathology revealed alveolar enlargement, perivascular and interstitial fibrosis and intra-alveolar hemorrhages (Fig. ).
Genetic testing was performed during the course of clinical care, after obtaining informed consent. Next generation sequencing on genomic DNA was performed using the NimbleGen SeqCap Target Enrichment kit (Roche) designed to capture several genes involved in pulmonary surfactant protein deficiency and skeletal abnormalities. A library was prepared following the manufacturer’s instructions and subsequently sequenced on an Illumina NextSeq550 instrument. Sequence data were carefully analyzed and the presence of all suspected variants were checked in the public databases (dbSNP, 1000 Genomes, and Exome Aggregation Consortium). The identified variants were confirmed by Sanger sequencing, following a standard protocol (BigDye® Terminator v3.1 Cycle Sequencing Kit,Life Technologies). No potentially causative variants were found in genes associated with cystic fibrosis, pulmonary surfactant protein deficiency or mutations in the SETBP1 gene associated with Schinzel–Giedion syndrome (a rare autosomal dominant disorder that results in facial dysmorphism and organ and bone abnormalities).
Sequencing analysis showed a new mosaic frameshift variant, NM_001456.3: c.7391_7403del, p.Val2464Alafs*5 in the FLNA gene that was not present in the maternal blood DNA. This variant has not been previously reported in individuals with FLNA-related disorders, but can be classified as likely pathogenic (Class 4) according to the ACMG guideline and it is expected to cause disease. It is not present in any public databases, dbSNP (, 1000 Genomes Project (), EVS (), ExAC () and can be considered as a private variant.
The same mutation was identified in DNA from salivary and pulmonary mesenchymal stem cells of the patient [].
Brain magnetic resonance imaging (MRI) depicted PVNH (Fig. ), although the patient was not suffering from any neurological symptoms at this stage.
At 14 months follow-up, the patient requires mechanical ventilation and artificial nutrition to maintain his growth. Epilepsy and other neurological manifestations were not recorded. |
pmc-6440266-1 | A 21-year-old previously asymptomatic Caucasian man, presented to the emergency department with symptomatic wide complex sustained tachycardia that required cardioversion for termination. His personal history was positive only for the use of recreational drugs (cannabis, synthetic drugs, LSD, ecstasy). He was diagnosed with mild form of genetic neurofibromatosis type 1 (NF1), Von Recklinghausen’s disease at 3 years old. His grandfather died from left atrial myxoma and heart failure at 74 years old.
Physical examination: Cardiovascular examination results and blood pressure were normal. Centripetal obesity. The body mass index was: 32. Had a six cafe-au-lait spots, measuring between to 5 to 12 mm. Two Lisch nodules were found in the eyes, and the head size was larger than average. Electrocardiogram was performed (Fig. ).
Echocardiogram showed mild left ventricular (LV) dilatation, apical, lateral, and inferior hypokinesia, multiple and prominent myocardial trabeculations that communicate with the chamber in the same segments, and noncompacted/-compacted myocardium ratio of >2.5. (Fig. and )
In the electrophysiologyical study, orthodromic atrioventricular (AV) reentrant tachycardia was induced using as the retrograde limb, a concealed left posterior paraseptal accessory pathway located at 5 o’clock position in mitral valve annulus as observed from the left anterior oblique projection. Anterograde conduction over the AV node was associated with the rate- dependent block in the right bundle branch. Radiofrequency catheter ablation eliminated the accessory pathway conduction but terminated the tachycardia (Fig. ). |
pmc-6440551-1 | A 28-year-old never smoker male from the Rukum district of Nepal presented to the emergency department (ED) of Tribhuvan University Teaching Hospital (TUTH) with a chief complaint of shortness of breath associated with a low grade fever, nonproductive cough, and pleuritic right-sided chest pain for two weeks. The dyspnoea was exertional in nature, and the patient did not complain of any orthopnea, paroxysmal nocturnal dyspnea, or swelling of the lower extremities. The low-grade fever had the same onset as the dyspnoea, had a Tmax of 99.8°F, and was not associated with chills or rigors. There was no history of sputum production, hemoptysis, night sweats, weight loss, or anorexia. He denies any rash, joint pain, numbness, or weakness in the extremities.
The patient had no past medical history of note, no history of allergies, and had not taken any drugs, medications or traditional therapies recently. There was no history of trauma to the chest or recent cardiothoracic instrumentation. He has been a farmer for 10 years and has tended to cows and goats from a young age. There is no history of occupational or residential exposure to asbestos, and no new plant or food exposure in the last three months. He has not travelled out of the country in the past year, and has had not any raw food ingestion, particularly of crustaceans, in the past three months. He has no family history of malignancy or autoimmune problems.
On examination, the vitals showed that he was hemodynamically stable with a temperature of 98°F, a sphygmomanometric blood pressure of 110/70 mmHg, heart rate of 88 beats/minute, and a respiratory rate of 22/minute saturating well in ambient air (peripheral spO2 97%, as measured by pulse oximetry). There was no associated lymphadenopathy. There was, however, decreased excursion of the right chest wall, diminished breath sounds, and a stony dull percussion note on the posterior right lower zone of the chest. There were no other adventitious sounds heard. Symptomatic treatment in the form of paracetamol for the fever was started and investigations were ordered.
Full blood count showed a leukocytosis of 34 × 109/L with an absolute eosinophil count (AEC) of 7.5 × 109/L (22%). There was no concomitant derangement of the other cell lines (Hb 14.1g, platelet count 200 × 109/L). Peripheral blood smear showed normocytic normochromic erythrocytes with eosinophilia (morphologically normal eosinophils). Serological examination was negative for antinuclear antibodies (ANA), anti-double stranded DNA antibodies (anti-dsDNA), rheumatoid factor (RF), anti-cyclic citrullinated peptide (CCP), and anti-neutrophil cytoplasmic antibodies (ANCA). Inflammatory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were raised (40 mm/h and 72 mg/L, respectively). Ultrasonography revealed bilateral pleural effusion (right > left) with no free fluid or other gross abnormalities picked up in the abdominal and pelvic scan. Chest X-ray showed a right-sided pleural effusion, with no associated interstitial infiltrates, apical calcifications, hilar lymphadenopathy, or abnormalities in the pulmonary vasculature observed (see Figure ).
As the primary team was concerned about an infectious etiology, anti-helminthic coverage in the form of a single-dose oral albendazole 400 mg was also administered. Subsequently, the team searched for epidemiologically relevant diseases such as tuberculosis, paragonimiasis, ascariasis, filariasis, and echinococcosis. Sputum smear was negative for mycobacterium and paragonimus ova. Serum adenosine deaminase was also normal (14.6 U/L). Additionally, the rest of the infectious disease work-up including sputum fungal stains and cultures, blood and urine cultures, stool ova and parasite work-up yielded no positive results.
In the interim, ultrasound-guided thoracentesis of the right chest wall was performed. Free fluid was noted in right pleural cavity; no loculations were identified and about 10 mL of straw-colored non-bloody fluid was aspirated and sent for cytological investigation. Pleural fluid was exudative with pleural fluid: serum protein ratio of >0.5, lactate dehydrogenase (LDH) ratio of >0.6, and pleural fluid LDH > ⅔ upper limit of normal for serum. Protein and glucose concentrations of the pleural fluid were measured to be 57.59 mg/dL and 4.9 mmol/L, respectively. Pleural fluid adenosine deaminase was also normal (23.1 U/L). Fungal and mycobacterial stains and cultures yielded no positive results. Malignant cells were not detected and the exudate was eosinophil-predominant (E 42%; N 40%; L 16%; M 2%).
Failure of response to anti-helminthic therapy for one week led the team to start oral prednisolone 1 mg/kg once daily with the dose tapered subsequently. The patient responded dramatically to prednisolone therapy. This was continued for one week and a regression of pleural effusion was demonstrated on chest radiography (see Figure ) with a normalization of inflammatory parameters (ESR and CRP) and peripheral blood counts (AEC < 0.5 × 108/L; N 86%; L 13%; Rest 1%). The patient was then discharged and advised for outpatient follow-up after one month and two months. During the follow-up consultation, the patient was well and there was no sign of pleural effusion clinically and radiographically. A repeat parasitological examination of the feces and sputum was conducted in the same setting. The test was negative, confirming the absence of the aforementioned suspected infections |
pmc-6440553-1 | A 43-year-old female patient with a past medical history of substance use disorder (SUD) was brought to the hospital by emergency medical services (EMS) presenting with multiple episodes of dizziness, shortness of breath, and palpitations. EMS reported ventricular tachycardia (VT) while in transit to the hospital for which she was externally defibrillated 10 times without any resolution of the ventricular arrhythmia. The patient’s past medical history was positive for depression and substance abuse of hydrocodone dating back to 2007. The patient’s husband denied any history of cardiac arrhythmias, structural heart disease, or ischemic heart disease. The patient’s husband denied using any medications, including herbal supplements, but reported drug allergies to amoxicillin and erythromycin. The patient’s social history revealed that she worked at a consignment store and had a history of alcohol and marijuana abuse. The patient’s husband also revealed recreational usage of loperamide at approximately 400 mg in the last 24 hours before the presentation. On physical exam in the emergency department, she appeared to be in moderate distress with pain from the external defibrillations. Her vital signs consisted of an elevated pulse of > 200 beats per minute (bpm), an elevated blood pressure of 157/80, and an increased respiratory rate at 24/minute. The pulmonary exam revealed decreased breath sounds bilaterally with symmetrical chest wall expansion. The cardiovascular exam revealed tachycardia with no murmurs reported. Examination of the head and neck showed moist mucous membranes with no jugular venous distension. The gastrointestinal exam was negative for distention, tenderness, rebound, guarding, hepatomegaly, or splenomegaly. The musculoskeletal exam revealed warm and well-perfused upper and lower extremities free of clubbing, cyanosis, and edema. In the processes of placing the electrocardiogram (EKG) electrodes onto the patient in the emergency room, the patient became unresponsive and the two lead EKG monitors showed polymorphic VT with a heart rate of 220 per minute and blood pressure of 84/58. The patient was immediately defibrillated once again before being sedated, intubated, and started on an amiodarone drip. The patient’s vitals were stabilized for 15 minutes before she went into another episode of polymorphic VT despite the amiodarone drip. The patient underwent synchronized cardioversion, and once her vitals stabilized, she underwent a cardiac catheterization which showed patent coronaries and a normal ejection fraction. The patient got transferred to the Medical Intensive Care Unit (MICU) for continuous monitoring and was started on a lidocaine drip in addition to the amiodarone drip. Her EKG in the MICU is shown below in Figure .
In the MICU, the patient continued to have polymorphic VT episodes despite medical management and went in and out of VT episodes approximately 16 times with each episode lasting between 30 seconds to two minutes. Subsequently, the patient had a transvenous cardiac pacer placed which stabilized her vital signs. After 72 hours, the pacer was removed, and the patient remained stable on amiodarone and lidocaine. Transthoracic echocardiogram in the MICU revealed a normal ejection fraction with no valvular abnormality. Serum electrolytes were within normal limits, and the urine drug screen was also negative. After the temporary pacer was removed, the patient subsequently remained in sinus rhythm with a heart rate of 70 bpm, QRS duration of 98 ms, and a QTc interval of 456 ms as seen in Figure .
After five days of hospitalization, the effects of the loperamide had completely resolved, and the patient remained in normal sinus rhythm on amiodarone until discharge and followed up a month later. |
pmc-6440554-1 | A 33-year-old Caucasian male presented to the emergency department with atypical chest pain for the past one week, associated with two episodes of syncope. His past medical history was unremarkable. His family history was relevant for coronary artery disease in his father at the age of 48 years with subsequent coronary artery bypass graft at the age of 52 years. In the emergency department, his electrocardiogram (EKG) showed complete heart block with a wide complex escape rhythm that switched to bifascicular block (RBBB and left posterior fascicular block (LPFB)) (Figures -).
Troponin was 0.72 ng/mL (normal: 0.000-0.029 ng/mL) on admission. A few hours later, his EKG showed ST elevations in leads V1, V2 and V3 suggestive of anteroseptal myocardial infarction (Figure ).
Serial troponins remained elevated. Cardiac catheterization showed 90% stenosis of the proximal LAD before the first diagonal, 85% stenosis of the proximal diagonal artery at the level of the bifurcation, and 100% stenosis of the first septal perforator (Figure ).
Collaterals from the right coronary artery (RCA) to the first septal perforator were also observed (Figure ).
A temporary pacemaker wire was inserted. A 2.75 mm x 12 mm Xience drug-eluting stent was placed in the LAD, and balloon angioplasty of diagonal artery was done using a 2.5 mm x 12 mm balloon (Figure ).
The patient was treated with aspirin, ticagrelor, metoprolol, lisinopril, and atorvastatin. Echocardiography revealed mild hypokinesis of the basal anteroseptal wall, basal inferior wall, and basal inferoseptal wall with overall preserved ejection fraction. In the subsequent two days, the patient had predominantly one-to-one atrioventricular (AV) conduction with occasional 2:1 AV block. He also had a persistent bifascicular block (RBBB and LPFB). The patient’s temporary pacemaker was removed two days later. However, he developed recurrent episodes of asystole followed by complete LBBB on EKG which required replacement of the temporary pacemaker (Figure ). The next day, the rhythm strips showed a pattern of alternating bundle branch block (Figure ).
He underwent insertion of a dual chamber permanent pacemaker, and he was eventually discharged home in stable condition. |
pmc-6440557-1 | A 67-year-old Caucasian male with a past medical history of gastroesophageal reflux disease presented to the hospital for an elective appendectomy. Of note, he was admitted six months prior for acute appendicitis with perforation and abscess formation. At that time, computerized tomography (CT) scan of the abdomen/pelvis revealed a perforated appendix with a 7-cm abscess in the right lower quadrant (Figure ).
The patient was medically managed with 10 days of ertapenem and percutaneous drainage. Follow-up CT scan of the abdomen/pelvis eight weeks post-drainage showed an intra-appendiceal mass, representing chronic inflammatory changes versus tumor (Figure ).
The patient underwent evaluation of possible underlying tumor with complete blood count, basic metabolic panel, and carcinoembryonic antigen (CEA) which were all unremarkable. Colonoscopy was performed, which did not show any abnormality at the appendiceal orifice. Unfortunately, the patient was lost to follow-up prior to his elective appendectomy despite recommendations for surgery at that time. The patient was reevaluated after lost to follow-up and decided to undergo laparoscopic appendectomy. Laparoscopic appendectomy revealed an intact appendix with a visualized bulbous tip and no evidence of metastatic disease. Gross examination of the specimen revealed a vermiform appendix measuring 6.5 x 1.3 cm. Sectioning of the specimen showed a 1.3 x 0.6-cm mucinous area surrounding the distal aspect of the appendix. Specimen pathology revealed LAMN with rare diverticula into the appendiceal wall and an extensive 1.3-cm area of periappendiceal acellular mucinous deposits. Extensive mucinous pools were identified in the periappendiceal tissue without evidence of perforation (Figure ). Mucinous epithelium was absent in the mucin pools.
The patient was stable postoperatively with no surgical complications. Outpatient follow-up was recommended with a CT scan of the abdomen and pelvis in six months. |
pmc-6440558-1 | History and presentation
The patient is a 67-year-old female who is ambidextrous but uses her right hand for writing. She presented with a two-year history of difficulty walking. She noticed that her right leg would sometimes drag on the floor. She also thought there had been a decline in her memory and concentration. On examination, the patient appeared to have a late onset cerebellar syndrome and was referred for neuropsychological assessment. Magnetic resonance imaging (MRI) revealed a calcified mass with marked T1 and T2 hypointensity suggestive of a calcified meningioma or oligodendroglioma (Figure ). Ventriculomegaly was noted on the initial study with no periventricular lucency. There were no features of raised intracranial pressure in the history and no papilloedema on fundoscopy, with a conclusion that there was no active hydrocephalus.
The patient underwent a posterior fossa craniectomy for excision of the lesion in November 2013. Histological examination of the decalcified specimen revealed coalescing, multilobulated amorphous material with mineral deposition (Figure ). Around and among the mineral deposits, there was some atrophic and reactive brain tissue. The deposited material was relatively paucicellular and there was only very mild chronic inflammatory reaction noted around the calcified areas. There were tiny areas with metaplastic bone formation and occasional concentric psammoma body-like structures were also seen. Immunohistochemistry revealed moderate numbers of Cluster of Differentiation 68 (CD68) positive macrophages and prominent astrocytic gliosis by glial fibrillary acidic protein (GFAP) in the brain tissue around the lesion. Epithelial membrane antigen (EMA) and pan-cytokeratin showed no specific immunoreactivity. Ki67 revealed only very occasional proliferating nuclei. Special stains (Grocott, Ziehl-Neelsen, PAS and Gram) were negative for microorganisms. The features were consistent with CAPNON.
There were no post-operative complications and the patient made a good recovery. There was an improvement in coordination and gait following the operation as well as the cognitive improvements detailed below. No cerebrospinal fluid (CSF) diversion was required at any point. An MRI one year post operation has not shown any evidence of recurrence.
Neuropsychological assessment and findings
This was conducted pre-operatively and three months post-operatively, in October 2013 and February 2014 respectively. The same battery of tests was used on each occasion with parallel versions where available. Premorbid level of functioning was assessed pre-operatively with the Test of Premorbid Functioning (TOPF) – UK Version []. Intellectual functions were assessed with the ten core subtests of the Wechsler Adult Intelligence Scale IV (WAIS-IV) []. Memory functions were assessed with the Recognition Memory Tests for Words and Faces [], and Brain Injury Rehabilitation Trust (BIRT) Memory and Information Processing Battery (BMIPB) []. Verbal recall and list learning language functions were assessed with the McKenna Graded Naming Test [,]. Perceptual functions were assessed with the incomplete letters and silhouettes (VOSP) []. Executive functions were assessed with the Hayling Sentence Completion Test and the Brixton Spatial Anticipation Test [], the Delis–Kaplan Executive Function System (D-KEFS) [], letter fluency category fluency, and Colour-Word Interference subtests.
Intellectual Functions
Pre-operatively the findings were: on the WAIS-IV Full Scale score (FSIQ) = 89, Verbal Comprehension score = 100, Perceptual Reasoning = 88, Working Memory = 95 and Processing Speed = 79 (Table ). On the TOPF her estimated premorbid FSIQ was 100. Her scores on the Perceptual Reasoning and, more particularly, on the Processing Speed subscales were weaker than her estimated upper average premorbid level of functioning. Post-operatively, on the WAIS-IV FSIQ = 96, Verbal Comprehension = 107, Perceptual Reasoning = 88, Working Memory = 97, Processing Speed = 94. Her scores on the Processing Speed subtests were considerably better post-operatively being in the average range and now in keeping with her estimated premorbid level of functioning.
Memory Functions
Pre-operatively, recognition memory for both verbal and visual material was satisfactory. On the forced choice Recognition Memory Tests for Words and Faces her scores, 41/50 and 39/50, were between the 25th and 50th percentiles and at the 25th percentile, respectively. Post-operatively, her recognition memory remains satisfactory (Words 45/50; Faces 42/50).
Pre-operatively, aspects of verbal recall memory were however poor. On the immediate recall of the story (BMIPB form 1) her score lay at the 25th percentile and on the delayed recall of the story her score lay between the 5th and 10th percentiles. On the list learning task (BMIPB form 1) her score lay below the 2nd percentile. Post-operatively, aspects of verbal recall memory remain quite poor. On the immediate and delayed recall of the story (BMIPB form 2) her scores lie at the 10th percentile. On the list learning task (BMIPB form 2) her score lies between the 5th and 10th percentiles.
Language Functions and Perceptual Functions
Nominal skills and perceptual functions were entirely satisfactory on both occasions (Table ).
Executive Functions
Pre-operatively, there was patchy impairment on selected executive tests. Her score on the Hayling test was satisfactory lying in the moderate average category. Fluency for words, both phonemic and category, was satisfactory. However, on the Brixton test her score was in the abnormal category and she scored in the extremely low range on the Inhibition/Switching condition of the D-KEFS Colour-Word Interference Test (Table ). Post-operatively, her performance on the executive tests is however satisfactory. On the Brixton test she scored in the moderate average category and on the D-KEFS Colour-Word Interference Test her score on the Inhibition/Switching condition was in the average range. |
pmc-6440563-1 | We present a case of a 21-year-old college football player with a medical history of recently diagnosed Crohn’s disease, for which he was started on mesalamine daily, four weeks before his emergency department (ED) presentation. The patient presented to the ED with recurrent intermittent episodes of chest pain over a 24-hour period. He described the chest pain as sharp, sub-sternal pain, 8/10 in severity that started while he was at rest. He experienced two self-resolving episodes; each lasted for an hour before he encountered a third more prolonged episode prompting him to present to the ED. The patient denied having any shortness of breath, cough, fever, runny nose, watery eyes, or other systemic symptoms before his chest pain. The patient had no cardiovascular risk factors and no family history of heart disease.
The electrocardiogram (EKG) demonstrated normal sinus rhythm with first-degree heart block and non-specific ST-T changes (Figure ). Cardiac biomarkers were elevated (Troponin I: 2.215 ng/ml and CK: 220 IU/L). The echocardiogram demonstrated normal wall motion and an ejection fraction of 55-60%. The patient’s presentation and elevated biomarkers raised the suspicion for mesalamine-induced myocarditis. A cardiac magnetic resonance (CMR) study was performed and demonstrated subepicardial to mid-myocardial delayed gadolinium hyper-enhancement and edema involving the basal inferior to inferolateral wall, which is a non-ischemic pattern that is consistent with myocarditis (Figure ). Mesalamine was then discontinued, with subsequent resolution of patient’s chest pain and normalization of troponin levels over a 48-hour period. |
pmc-6440565-1 | An 83-year-old African American asymptomatic male with controlled hypertension was found to have abnormal findings upon routine EKG (sinus bradycardia with first degree A-V block, right bundle branch block, deep T-waves V3-V6) (Figure ) done in his primary care physician’s office. Physical exam was nonsignificant, except for grade 2/6 systolic ejection murmur at left lower sternal border.
A transthoracic echocardiogram (TTE) showed borderline left ventricular hypertrophy (LVH) (interventricular septal dimension 11 mm and left ventricular posterior wall dimension 11 mm) with normal left ventricular systolic function (60%-65%) and minimal aortic stenosis (AVmax velocity 1.75 m/s). No further cardiac workup was pursued. A year later, the patient underwent a chest computed tomography (CT scan) for an unrelated issue. On this study, the heart was reported as “normal in size.” Three years later, his primary care provider performed another EKG and ordered another echocardiogram. A follow-up EKG (Figure ) and echocardiogram were essentially unchanged (interventricular septal dimension 10 mm and left ventricular posterior wall dimension 10 mm) (Video ). A cardiology consultation was requested for further evaluation of these persistent findings.
After initial cardiac consultation, the patient underwent nuclear treadmill stress test. Nuclear images showed prominent apical tracer uptake (at rest and peak stress) suspecting apical hypertrophy without ischemic findings. Prior echocardiograms were then reviewed and evidence for apical hypertrophy was seen that was not previously appreciated. Findings were later confirmed on echocardiogram with contrast revealing clearer evidence for apical hypertrophy and diagnostic “ace of spades” sign (Video ). The patient denied family history of any cardiomyopathy, arrhythmias, or sudden cardiac death (SCD). No further medical management was needed, as the patient was asymptomatic. However, he was advised to undergo genetic screening for hereditary cardiomyopathy variants. He pursued comprehensive cardiomyopathy gene testing panel which showed heterozygosity for a (Leu425Pro) L425P variant of uncertain significance in the ACTN2 gene [(CTG>CCG):c. 1274 T>C in exon 12 of the ACTN gene]. No deletion or duplication involving any of the nuclear genes was found. The ideal management strategy for this variant is unclear due to its rarity and paucity of published literature. With the initial work-up complete, we made two recommendations to the patient. First, he should have continued clinical follow-up. Second, his first-degree relatives should be encouraged to seek targeted genetic testing of the ACTN2 gene. |
pmc-6441175-1 | A 57-year-old man was admitted to our hospital after displaying symptoms of dysarthria and ataxic gait for 2 days. The patient was prescribed oral metronidazole (400 mg four times a day) and levofloxacin (200 mg twice a day) for 20 days due to nasosinusitis. No other drugs were prescribed or used by the patient in the 20 days before admission to our hospital. He had hypertension, type 2 diabetes, and chronic nephritis, but no history of alcohol abuse. He did not take any other medications, such as chemotherapy or antiepileptic drugs. During diagnosis, neurological examination showed that the upward and outward movements of bilateral eyeballs were limited, and horizontal and vertical nystagmus were observed. The muscular tension of his four limbs was weak, tendon reflex (+), meningeal irritation sign (−), bilateral Babinski sign (+), the deep and superficial sensibility of the limbs were normal, and bilateral finger-nose test and heel-knee-tibia test could not be completed. Laboratory findings showed that Aspartate aminotransferase (AST) 58 U/L, serum alanine aminotransferase (ALT) was 61 U/L, total protein was 62.86 g/L, γ-glutamyltransferase (GGT) was 107 U/L, uric acid was 157.5 umol/L, glutamic acid dehydrogenase was 8 g/L, sugar level was 6.66 mmol/L, and potassium level was 3.08 mmol/L. Lumbar puncture revealed that the level of protein in cerebrospinal fluid (CSF) was increased to 893 mg/L, but other CSF test results were normal. The brain magnetic resonance imaging (MRI), performed 20 days after initiation of metronidazole, showed hyper-intensities in the bilateral cerebellar dentate nuclei, medulla oblongata, midbrain, red nuclei and corpus callosum on T2 FLAIR images. In addition, hyperintense lesions were observed in the corresponding areas of the corpus callosum on DWI images. In the present case, there were no other white matter abnormalities on MRI. (Fig. a-j).
The offending drug was discontinued immediately, but on the 3rd day of in-hospital stay, he was unable to stand or walk. Also, the patient showed signs of confusion. We administered high-dose of intravenous methylprednisolone pulse therapy (500 mg/day). Meanwhile, 100 mg thiamine was given by muscular injection and 1 mg Vitamin B12 was given by intravenous injection. On the 4th day of his hospital stay and on the 2nd day after receiving glucocorticoids treatment, his dysarthria improved significantly and he was able to walk, albeit with some balance issues. On the 5th day, the dose of glucocorticoids (GCs) was progressively reduced. Half a month later, the patient’s symptoms resolved completely. Follow-up MRI examination showed that almost all lesions disappeared but the splenium of corpus callosum residual had lesions 18 days after initiation of GCs. (Fig. k-t). |
pmc-6441184-1 | We report on a case of severe anaphylaxis after a pelvic examination performed on a 54-year-old Thai woman. She had had a spinal cord tumor surgically removed 4 years prior to the episode of anaphylaxis. She consequently had spastic paraplegia and became bed-bound. She developed one chronic pressure sore at the labia majora, for which she underwent multiple debridements. NRL gloves and CHX were regularly used in the debridements. Three days prior to the episode of anaphylaxis, she complained of vaginal spotting. A pelvic examination was done to diagnose the pelvic pathology. The gynecologist used CHX for the vaginal preparation and wore NRL gloves with lubricating gel during the examination. No other medications were administered during peri-procedural period. Approximately 5 min after the examination, she began to complain of “feeling unwell” with mild vaginal pruritus. She rapidly developed generalized hives and flares, swollen eyelids, and hypotensive syncope, all within 30 min. She was diagnosed with severe anaphylaxis. Intravenous fluid and intramuscular epinephrine were promptly administered. All symptoms improved without a biphasic reaction.
Additional history revealed that she had a history of minimal pruritus after direct skin contact with latex gloves during a bed bath procedure 1 month before. Although NRL gloves and CHX as a disinfectant were regularly used in her debridements, she had never had a history of a systemic allergic reaction after a debridement. Since the age of 50, she had had a history of fruit allergy (including bananas, longans, and jackfruit) associated with symptoms of pruritus of the lips, urticarial rashes, and angioedema. She had never eaten avocado, kiwi, or other latex-related fruits.
Investigations into the cause of the anaphylaxis were done thoroughly 6 weeks after the episode. The results are summarized in Table .
Given the patient’s history of severe index reaction, we initially performed skin prick testing with CHX at a concentration of 0.002 mg/mL, which proved to be positive. A basophil activation test showed an increased expression of CD203c in basophils when stimulated with CHX. Its stimulation indices were 4.03 and 4.52 when whole blood was stimulated with CHX at the concentrations of 0.1 and 0.3 mcg/mL, respectively. Specific IgE to latex, using ImmunoCAP, was positive at 45.90 kAU/L. We analyzed specific IgE to latex component, which showed positive results for Hev b 1, 5, 6.02, and 11 (Phadia AB, Uppsala, Sweden). Prick-to-prick testing with latex-related fruits was positive for avocado, banana, jackfruit, kiwi, and longan (Fig. ). A glove-use test revealed contact erythema with concurrent pruritus on the fingertip at 20 min. |
pmc-6441210-1 | A boy aged 2 years and 8 months with a history of episodic fatigue and weakness was admitted for the evaluation of symptomatic hypoglycemic episodes. The patient was the first child of unrelated Chinese parents. The boy was born by a full-term normal vaginal delivery after 40 weeks of gestation, with a birth weight of 3.3 kg and a birth length of 49 cm. His pre- and postnatal periods and developmental milestones were normal, and his parents and younger sister were healthy. The symptomatic hypoglycemic episodes were first noted when he was 2 years old. Physical examination showed a non-dysmorphic boy with a height of 97 cm (0SD~ + 1SD), a weight of 15.5 kg (0SD~ + 1SD), and no palpable liver enlargement. He displayed normal muscle strength according to the MRC scale.
The patient’s biochemical characteristics are listed in Table . Urine ketone bodies were positive. His liver size was normal on ultrasonography with no liver hyperechogenicity or hypoechogenicity. His electroencephalography, social life ability and intelligence development were normal. His Peabody developmental motor scale presented a motor delay [Gross Motor Quotient (78); Fine Motor Quotient (87); Total Motor Quotient (83)] [].
Consent and Ethics:
Written informed consent was provided by the parents. This study was approved by the ethics committee of Peking Union Medical College Hospital, China. |
pmc-6441483-1 | A 63-year-old male patient was admitted to our clinic with diarrhea and intermittent abdominal pain for 3 months. The patient had mucoid-runny diarrhea 3-4 times a day. He had visceral pain at periumbilical region relieving with diarrhea. He had a history of gastrointestinal hemorrhage due to peptic ulcer 10 years ago. He did not have any history of drug use or operation. On physical examination; fever was 36 ° C, pulse was 82/min, arterial blood pressure was 130/80 mmHg. He had abdominal distention, increased bowel sounds and ileocecal tenderness with deep palpation. Other physical examination findings were normal. He did not have fever on the follow-up. Abnormal laboratory findings were white blood cell: 14,000/uL, C-reactive protein: 185 mg/L, erythrocyte sedimentation rate: 60 mm/h. Celiac markers were negative. Many leukocytes were seen in the stool microscopy. No parasitic organism was identified. In stool culture, no specific microorganism was detected. The patient underwent gastroscopy and colonoscopy. During the colonoscopy, purulent fluid was evacuated. Ulcerated and granular appearance was detected on caecum base, around the appendix orifice. Colitis was detected in the examination of the biopsy taken from this area. The patient's abdominal pain did not regress with conservative treatment. The patient's complaints could not be explained and abdominal imaging was planned. Inflammation of intestinal loops, omental inflammatory thickening and 7x5x4 cm fluid collection in pericaecal area were observed on abdominal ultrasonography (USG). Abdominal CT revealed a hyperdense area of 12x16 mm in heterogeneous structure within the anterior mesenteric fat tissue at the ileocecal valve level. It was found to be compatible with plastron appendicitis.
The patient was hydrated and taking empiric cefixime 1x100 mg metronidazole 3x500 mg. His pain was decreased by drainage of purulent fluid, antibiotics and hydration. C-reactive protein was reduced to 19 mg/L. White blood cell count was 9,000/μL after treatment. The patient was discharged and called to the outpatient clinic 6 weeks later. Elective appendectomy operation was performed 6 weeks later. |
pmc-6441490-1 | Clinical evidences
A 46-year-old white woman was referred to our physicians for symptom related to biliary tract injury (pruritus, abdominal pain, and fatigue), without jaundice. With a history of smoking, no other clinical information has been noted to this patient.
Baseline laboratory data obtained from blood sampling revealed alkaline phosphatase (ALP) elevation together with g-glutamyl transferase (gGT), aspartate aminotransferase (AST) and alanine aminotransferase (ALT). Bilirubin level was normal ().
The differential diagnosis will go through the evidence of specific etiological agent that cause disease. For this reason, we take into consideration three clinical hypothesis: viral, pharmacological and autoimmune aetiology. Viral serologies, summarized in , was considered exhaustive to exclude viral aetiology.
Many drugs can cause cholestasis or cholestatic hepatitis, including sulfamethoxazole/ trimethoprim, amoxicillin/clavulanate, antiepileptic medication, and antituberculosis drugs. Histologic findings are variable but usually include mild portal inflammation, ductular reaction, and cholestasis. Clinical history is important, because a patient’s medication list should be reviewed for potentially offending substances, and the length of symptoms is important as well.
Patient not referred the use of these and others pharmacological therapy, included “homemade” herbal substances.
Immunological evidences
A two distinct cytoplasmic pattern were identified in a routine ANA test using HEp-2 cell slides from Euroimmun, at end dilution of 1:1280 (, ).
Mitochondrial-like cytoplasmic pattern
IIF- pattern were characterized by the presence of larger irregular granules extending from the nucleus throughout the cytoplasm in a reticular network. Cytoplasm of dividing cells was strongly positive (Figure 2, Panel A). IIF on a commercial rat liver, kidney and stomach tissue with the use of polyclonal IgG antibodies confirmed the presence of AMAs, with a characteristic staining pattern: granular diffuse cytoplasmic staining of the Kupffer cells and hepatocytes, of the renal tubules (strongest staining is noted in distal which is mitochondria-rich) and parietal gastric cells (Figure 2, panel B). Line immunoassay Euroline profile autoimmune liver diseases (IgG; LIA, Euroimmun Lübeck) revealed antibodies against AMA-M2. M2-E3 (BPO) but not against Sp100, PML, gp210, LKM-1, LC-1 and SLA/LP (Figure 2, panel C).
Rods and rings cytoplasmic pattern
The structures recognized by patient serum were distinct cytoplasmic rods and rings ( and ). We observed one to two rods and/or rings per cell including some intermediate structures such as a figure ‘‘8’’ (), elongated rings ( ), twisted rings (), rods with pin loops (). Some rods often align adjacent to the nucleus or perpendicular to the nucleus, and rings may be found in the cytoplasm ().
Histological evidences
The typical findings of PBC on hematoxylin-eosin stain were appeared, as described below: moderate lymphoplasmacytic portal inflammation with moderate interface hepatitis and bile ductular reaction along the periphery of the portal tracts, typical for early disease stages (Figure 4 panel A and B).
Diagnosis
Following the American Association for the Study of Liver Diseases Guideline, PCB diagnosis was made:
1) Biochemical evidence of cholestasis based on alkaline phosphatase (ALP) elevation;
2) The presence of anti-mitochondrial antibodies (AMAs);
3) Histological evidence of intrahepatic destructive cholangitis of interlobular bile ducts. |
pmc-6441500-1 | We report the case of a 44-year-old male referred by the family doctor to our nephrology clinic due to the uncontrolled hypertension and renal failure. The patient had a 3-year history of hypertension and hypercholesterolemia and he was taking the following medications: propranolol 40 mg, simvastatin 20 mg, losartan 50 mg, and nifedipine 60 mg.
This patient presented to our outpatient clinic with uncontrolled hypertension (195/110 mmHg), leg edemas that extended to the lower thighs, and complaints of fatigue and headaches. On this first consultation, the patient provided blood and urine workup from 3 months earlier that documented normocytic, normochromic anemia (Hb 12 g/dL), an elevation of creatinine and BUN to 1.9 mg/dL and 66 mg/dL, respectively, and proteinuria of 4.0 g/24 hours. He also had a renal ultrasound reporting normal sized, normal contoured, hyperechogenic kidneys bilaterally with slight corticomedullary dedifferentiation.
The patient was hospitalized with the diagnosis of nephrotic syndrome. The initial workup included a 24-hour urine collection with total proteinuria of 7.36 g, a urinary sediment with many hyaline casts, and a complete blood workup that revealed serum creatinine 2.5 mg/dL, a PTH level of 82 pg/mL, and a slight prolongation of prothrombin time. Subsequent full laboratory and imaging screening tests ruled out infectious and neoplastic or autoimmune disorders. The only positive finding was a left ventricular and auricular hypertrophy with a normal systolic function and ejection fraction, seen on echocardiogram.
From his personal medical history, he had been hospitalized on three occasions, twice in a surgical department for an appendectomy and a cholecystectomy and once in a cardiology department due to suspicion of rheumatic fever that was never confirmed. Apart from the family doctor he denied any other regular medical follow-up. He denied smoking, drugs, or excessive alcohol intake. He also denied contact with animals, except for his dog, and had never travelled abroad. From his family history, there was a history of hypertension from his father and breast cancer from his mother and one younger sister that is healthy. He had no knowledge of consanguinity or congenital diseases within his family.
During the 2-week period the patient was hospitalized, a rapidly progressive worsening of kidney function was observed with creatinine levels reaching 6.3 mg/dL accompanied by serious anemia and an altered coagulation function test needing transfusional support. The prothrombin time was not corrected with fresh frozen plasma and in need of performing a kidney biopsy, we opted for starting the patient on corticosteroids with oral prednisolone 1 mg/kg.
On the 15th day of hospitalization, the hematologic disturbances stabilized, hypertension was controlled, and a kidney biopsy was performed. Over the next days, under corticosteroids the patient's clinical status improved, with concurrent stabilization of kidney function and the anemia, to creatinine level 2.80 mg/dL and hemoglobin 11.8 g/dL. Diet modifications, antihypertensive medication, and chelators of potassium and phosphorus as well as iron therapy had been introduced, with good response, and the patient was discharged on this medication. He waited for the kidney biopsy results as an outpatient and was summoned up for consultation and reevaluation at our nephrology clinic as soon as we had the results.
The kidney biopsy revealed complete sclerosis of the glomeruli with invasion of mesangium and capillaries by an amorphous substance, with 2 glomeruli presenting hyaline mesangial proliferation. Tubules were completely atrophic and there was diffuse interstitial fibrosis with a moderate lymphocitary infiltrate. There was arteriolar hyalinosis at the vascular poles staining positive with Congo red, with normal appearance of the remnant vessels. Immunohistochemistry was negative for complement, free light chains or immunoglobulins. Evaluation for the presence of serum amyloid A (SAA) protein was positive in both the vessels and glomeruli.
Considering the biopsy results we asked the patient to come in for a clinical interview with his wife. On this interview, the patient recalled a long-time history of febrile periods since he was 9 years old that had faded with age and therefore he did not consider relevant. He had been investigated as a child but no conclusion had been made. According to the wife, their two male children suffered from a similar kind of recurrent fevers since they were about 3 years old which had been investigated by their pediatrician but so far no diagnosis had been made. Our patient reported his febrile periods lasted approximately 1 week to 10 days, with no cyclic clockwork recurrence, sometimes attributed to stressful events but mostly unpredictable, and did not respond to classic antipyretics such as ibuprofen or paracetamol. These febrile periods were often accompanied by headaches or myalgia that was focal and migratory, but he denied pharyngitis, skin rashes or urticaria, aphthous ulcers, abdominal pain, arthritis, or vomiting. His children had febrile periods with somewhat different characteristics, as they lasted longer, usually 2 weeks, had a cyclic recurrence 6 months apart, and were mostly accompanied by abdominal pain and migratory arthritis. Neither the patient nor his children had any dysmorphology. His children had normal psychomotor development for their ages, 6 and 8 years old, respectively. The whole family was tested for serum amyloid A protein (SAA). The father was positive (90.3 mg/L, normal <6.4) and the children were negative.
Considering such family history and the fever recurrence in the absence of any suspected infection, the diagnostic algorithm of periodic fever syndrome was considered and corticosteroid therapy was gradually tapered. The fact that both children were affected made us focus on disorders with an autosomal dominant pattern of transmission. Though the father and children had some phenotypic variability, the febrile periods were > 1 week long in all of them, they had consistently 2 to 3 episodes a year, and they all lacked lymphadenopathies and cutaneous or ophthalmologic manifestations, which made us think of TRAPS as the most probable diagnosis.
The family was referred to a geneticist and was tested for TNF receptor mutations. All subjects were positive in heterozygosity for a missense variant mutation (c.242G>T p.Cys81Phe) of the TNFRSF1A gene on chromosome 12, and the diagnosis of TRAPS was confirmed. When these results were known, the family was referred to the rheumatology department to be considered for treatment with IL-1 receptor antagonists. The children were started on anakinra and up until the moment of submission of this article, the children have had no complications of treatment and they have not had any febrile episode for 2 years.
In the meanwhile, the patient continued follow-up in our nephrology clinic and had the need for hospitalization twice, 11 and 13 months after the first hospitalization, due to recurrent pericarditis that did not respond to NSAIDs nor corticosteroid therapy but did respond partially to colchicine. Approval for the use of anakinra in our patient took longer, as anakinra is not approved for use in patients with severe renal failure. Despite control of hypertension and dyslipidemia and partial remission of proteinuria, the patient had a protracted course into end-stage renal failure starting hemodialysis 15 months after the first hospitalization. While on hemodialysis the patient was started on anakinra (100 mg every two days, subcutaneously). Throughout treatment the patient had no serious complication and remained symptom-free, with marked reduction of his serum amyloid A protein levels (3.3 mg/L).
The patient received a successful cadaveric renal transplant in December 2017, 15 months after starting dialysis, and maintains treatment with anakinra until today, which was adjusted after kidney transplantation to 100 mg daily, subcutaneously. |
pmc-6441504-1 | A 32-year-old nulliparous female presented to the endocrinology clinic for further evaluation and treatment of a recently diagnosed MSO. Five years prior to this evaluation, she underwent bilateral ovarian cystectomy for complex ovarian masses which were histologically consistent with mature teratomas. Over the ensuing four years, serial ultrasonography showed progressive interval growth of the bilateral cystic masses, especially of the left adnexal mass growing from 4.3 cm to 12.9 cm in approximately 4 years.
Five months prior to her endocrinology evaluation, she underwent exploratory laparotomy with left salpingo-oophorectomy, right ovarian cystectomy, lysis of adhesions, and partial omentectomy. Pathology showed a 6.0 cm malignant struma ovarii, with predominantly follicular variant papillary thyroid carcinoma in the left ovary (). The tumor, classified as pT1a pNx; FIGO IA, was organ confined but with lymphatic/vascular invasion (). The omentum was free of tumor, and in the right ovary a hemorrhagic corpus luteum cyst was identified. Postoperatively she underwent an I-123 whole body scan which did not identify any metastatic disease. Specifically, there was no abnormal uptake in the adnexae or the abdomen, although this was likely of limited utility given the intact thyroid gland.
When seen in the endocrinology clinic, she had no abdominal complaints. Physical exam was unremarkable, including a normal neck exam without palpable thyroid enlargement or nodularity and with a soft abdomen without palpable masses or ascites. Family history was significant for cervical and lung cancer in her mother as well as the maternal grandmother with breast and bone malignancies.
Laboratory testing showed TSH 2.98 mcIU/ml (0.35-4.0), FT4 16.7 pmol/L [1.3 ng/dL (0.6-1.7)], FT3 49.1 pmol/L [3.2 ng/dL (87-178)], thyroglobulin antibody negative, (<1.0) thyroglobulin 108.5 ng/mL (1.3-31.8). A thyroid ultrasound showed a mixed hypo- and isoechoic 0.8 x 0.4 x0.7 cm nodule with several echogenic punctate foci consistent with microcalcifications. Fine needle aspiration biopsy of the nodule was interpreted as atypia of undetermined significance (Bethesda III). Given the clinical history of MSO, indeterminate cytopathology, and patient preference, the decision was made to perform total thyroidectomy. Pathology revealed a 0.6cm papillary thyroid carcinoma with no lymphovascular invasion (). There was, however, a single focus of extra thyroidal extension (pT3). Her postoperative course was complicated by hypoparathyroidism with symptomatic hypocalcemia which resolved with aggressive replacement of calcitriol and elemental calcium. Thyroglobulin levels were 9.5 ng/ml with negative thyroglobulin antibodies at two months after thyroidectomy. She was discharged on calcitriol 0.25mcg BID and calcium carbonate 2500mg TID (3000mg elemental calcium). She was started on liothyronine 25mcg PO daily, in anticipation of planned RAI therapy.
Three months later, I-123 WBS/SPECT/CT revealed multiple avid foci in the neck suggestive of lymph node metastasis and residual thyroid tissue, as well as one faint focus in the mid-abdomen possibly representing a metastatic mesenteric lymph node. Ultrasonography failed to reveal abnormal cervical lymph nodes. Considering these findings in total, it was decided to proceed with radioactive iodine therapy and she received 184.3 mCi of I-131 therapy. Post-therapy whole body scan revealed successful targeting of radioiodine therapy to thyroid tissue in the neck, and no convincing abnormal focal uptake in abdomen or pelvis to suggest radioiodine avid metastatic disease. Thyroglobulin levels post-RAI ablation decreased to 0.5ng/ml and subsequently to 0.1ng/ml upon later testing. BRAF mutational analysis testing for the V600E mutation was negative for both ovarian and thyroid papillary carcinomas. Patient also had testing for TERT promoter mutations, which were negative. Post-RAI ablation, patient was switched to levothyroxine 200mcg daily with subsequent titration to 225 mcg daily to achieve suppressed TSH. Hypocalcemia eventually resolved, and she was transitioned off calcitriol and calcium carbonate supplementation. A year after RAI ablation, the patient underwent rhTSH stimulated WBS which did not show any evidence of thyroid cancer recurrence. The most recent thyroid ultrasound (12/2017) showed stable benign appearing lymph nodes, and no evidence of residual or recurrent thyroid tissue (thyroglobulin level of 0.1 ng/ml). A pelvic surveillance MRI showed benign appearing cystic lesions at the right adnexa, but no evidence of metastatic disease. The patient provided written informed consent to publish her case. |
pmc-6441505-1 | A 51-year-old hypertensive Pakistani male patient was admitted in the cardiac intensive care unit in King Fahd University Hospital on 30 July 2017 complaining of chest and back pain for two weeks prior to the presentation; he took nonsteroidal anti-inflammatory drugs but were not effective. Physical examination was done in the emergency department and revealed stable vital signs; the patient was conscious, moving all his limbs; there were warm palpable pulses of the upper arms.
The CTA of the aorta revealed a large dissection flap from the origin of the left subclavian artery extending down all the way to the level of renal arteries; there was enlargement of the false lumen at the proximal aorta with large aneurysmal dilatation (mural thrombus) and a compression of the true lumen (ascending aorta). Additionally, there was a large entry point seen 2 cm distal to the right subclavian artery. The aberrant right subclavian artery was noted crossing posterior to the trachea and arising as a last branch of the aortic arch distal to the left subclavian artery; also, the left vertebral artery was arising directly from the aortic arch. There was no other evidence of vascular dissection or occlusion below the level of the renal arteries (Figures and ).
The patient underwent general anesthesia for thoracic endovascular repair (TEVAR) two days after his first day of admission; the procedure was done through the right femoral approach; an angiogram was performed intraoperatively (). Stent graft with a size of 34 mm × 15 cm was used and deployed into the descending thoracic aorta; the intimal entry tear was completely covered by the stent, and the false lumen was obliterated. A postdeployment angiogram revealed successful proximal occlusion of the entry point with no perfusion of the false lumen and good flow through both carotid and left vertebral arteries as well as patent right and left subclavian arteries.
The patient was postoperatively moving all his limbs, and the peripheral pulses were intact. He got discharged one day after the surgery and was doing well afterward. We evaluated patient's prognosis by following up for 3 to 6 months for a chest X-ray, CTA, and CT aorta 3D reconstruction (Figures and ) which confirmed no endovascular leak as well as no ischemic or stroke signs in the clinical follow-up; we assessed the patency of the subclavian arteries by examining the bilateral upper arms' blood supply in addition to radial arteries by evaluating the pulses with no evidence of morbidity. |
pmc-6441519-1 | Our patient, a 79-year-old African-American male with a past medical history of end-stage renal disease secondary to hypertension, DM Type 2, coronary artery disease received an uneventful deceased donor kidney transplantation. His induction immunosuppression consisted of antithymocyte immunoglobulin and steroids and his maintenance regimen consisted of Mycophenolate Mofetil, Tacrolimus, and Prednisone. He received Trimethoprim-Sulfamethoxazole, Valgancyclovir, and Nystatin for opportunistic infection prophylaxis. His immediate posttransplant course was complicated by transient delayed graft function and Clostridium difficile diarrhea which resolved after treatment by postoperative day 10.
On postoperative day 16, he started experiencing dysphagia and odynophagia and was unable to take solid food. An esophagogastroduodenoscopy (EGD) was performed revealing Los Angeles Grade D esophagitis, 20 cm in length (), along with a large semicircumferential gastric ulcer with heaped up margins covered by greenish exudate (). Histologic examination of the biopsy specimen revealed fungal elements in the background of necrotic and acute inflammatory exudate with unremarkable gastric foveolar epithelium (Figures and ). CMV and HSV stains were negative and the biopsy was negative for H. pylori and malignancy as well. Fungal culture grew Rhizopus species. The patient was started on Isavuconazole (372 mg every eight hours for 6 doses followed by 372 mg daily) and the dose of Mycophenolate Mofetil and Tacrolimus was reduced. He started experiencing resolution of symptoms in 48 hours and was able to tolerate oral feeds well. A repeat EGD on postoperative day 20 showed partial resolution of the mass (). The patient was put on lifelong Isavuconazole (372 mg p.o daily) given the patient's immunosuppressed status and he has remained asymptomatic at 6 months after transplant, which was his last clinic follow-up visit. |
pmc-6441520-1 | A 51-year-old woman who experienced massive intraventricular hemorrhage due to presence of a post-central parasagittal AVM, Spetzler & Martin grade 3, underwent surgery (Figures and ). In this case, we performed right frontoparietal craniotomy and approached the AVM via right interhemispheric route (). However, through the delay map, visualization of the precise structure of the AVM was not possible due to depth of the nidus and angle of the surgical approach (); moreover, due to swelling of the brain, exposure of the AVM was unstable. |
pmc-6441520-2 | A 33-year-old man with an unruptured right-occipital AVM underwent surgical treatment (Figures and ). Intraprocedural delay mapping provided a detailed color-coded image after opening of the dura (Figures and ); and the location of the nidus and main feeders was visualized. Based on the findings, we occluded the feeders and achieved complete removal of the AVM with accurate dissection plane between the nidus and normal brain tissue. |
pmc-6441522-1 | A 55-year-old female with past medical history significant only for hypothyroidism presented to the ED with hematochezia and diarrhea of unknown etiology. Her last colonoscopy, three years prior, was unremarkable. On colonoscopy, a mass-like lesion was identified at the ileocecal valve (). Notably, on previous imaging studies, from three months prior, during a workup for painless jaundice, no mass was detected within the abdomen. Biopsies were taken of the mass-like lesion, as well as throughout the colon. The biopsies demonstrated hyalinized lamina propria, atrophic crypts, ulceration, and active inflammation, indicative of IC (). The random colon biopsies histologically demonstrated features of lymphocytic colitis ().
Three months prior to this ED visit she was treated with steroids for presumed autoimmune hepatitis following a workup and admission for painless jaundice, decreased appetite, right upper quadrant pain, “mustard yellow” urine and pale stools, elevated transaminases, and hyperbilirubinemia. An ultrasound was unrevealing, and CT showed no intrahepatic or extrahepatic bile duct dilatation, with a contracted gallbladder with pericholecystic edema of uncertain etiology. There was a nonspecific periportal edema extending towards the porta hepatis and a short segment jejunojejunal intussusception. Pathology of her liver biopsy showed an acute hepatitis pattern of injury with mild lobular cholestasis. The precise etiology was not readily apparent with the differential diagnosis including acute viral hepatitis and drug-induced liver injury. Plasma cells were inconspicuous, and the patient reportedly had negative F-actin serology; as a result, autoimmune hepatitis was not favored, though it could not be completely ruled out. The patient underwent a repeat colonoscopy two months later, following supportive treatment for her symptoms, although she endorsed additional episodes of diarrhea. The procedure revealed complete resolution of the mass-like lesion at the ileocecal valve with no signs of colitis (). After three months a CT angiogram was obtained which showed mild to moderate calcific atherosclerotic changes and mild tortuosity of the abdominal aorta without evidence of aneurysm or dissection. The celiac, superior, and inferior mesenteric arteries were widely patent without evidence of significant stenosis. |
pmc-6441667-1 | A 36-year-old male patient was diagnosed with a malignant nerve sheath tumor (MNST) of the left mandible and underwent mandibular resection. A VSP simulation surgery was then performed and CAD/CAM surgical guides were fabricated using VSP data. The mandibular bone from the right mandibular canine to the left ascending ramus was removed and reconstructed with an FFF, which was fixed with a reconstruction metal plate. The fibula was bent once and fixed on the right mandible and the left ascending ramus with a reconstruction plate (Fig. ). Postoperative sag of left condylar segment was found in the panoramic view after surgery.
Trismus was gradually relieved after surgery, with no pain around the TMJ during mandibular function. No open bite was observed in the right posterior mandible during mastication. During the postoperative follow-up, panoramic radiographs obtained 8 months after surgery showed anterior dislocation of the left condyle with a reduction of the interocclusal distance. The patient neither complained nor showed any signs of trismus or pain in the TMJ (Fig. ). |
pmc-6441667-2 | A 43-year-old male patient was diagnosed with squamous cell carcinoma (SCC stage IVa) of the right mandible and underwent neck dissection including mandibular and wide resections. A VSP simulation surgery was then performed and CAD/CAM surgical guides were fabricated using VSP data. The portion of the mandibular bone from the right mandibular premolar tooth to the right condyle and TMJ was removed and reconstructed with an FFF. The FFF was fixed with a reconstruction metal plate. The fibula was bent once, connected posteriorly to the right mandibular canine, and located on the glenoid fossa with a reconstruction plate (Fig. ).
Trismus was gradually relieved after surgery and there was no pain around the TMJ during mandibular function. No open bite was observed from the right mandibular canine to the left posterior region during mastication. During the postoperative follow-up, panoramic radiographs obtained 2 years and 1 month after surgery showed anterior dislocation of a segment of the fibula corresponding to the right condyle. The right posterior interocclusal space became narrower. The patient did not have trismus or pain in the TMJ (Fig. ). The connection between the fibular segments 2 years later was found to be in a position similar to that observed immediately after the surgery. However, the connection between the anterior parts of the fibular segments and the mandible were severely displaced after surgery. Following radiation treatment after surgery, the metal plate became exposed and was subsequently removed. This sign may be resulted from the complication of reconstruction plate. |
pmc-6441667-3 | A 47-year-old male patient was diagnosed with squamous cell carcinoma (SCC stage IVa) of the left mandible and underwent neck dissection including mandibular wide resections. A VSP simulation surgery was then performed and CAD/CAM surgical guides were fabricated using VSP data prior to the main surgery. The portion of the mandible from the left mandibular molar to the left ascending ramus was removed and reconstructed with an FFF. The FFF was fixed with miniplates using two plates per connection point. Fibulae were connected to the ascending ramus of the left mandible, their anterior portions being connected posteriorly to the mandibular premolar region. The fibulae were then fixed with miniplates (Fig. ).
Trismus was gradually relieved after surgery, with no pain around the TMJ during mandibular function. No open bite was observed from the right mandibular incisor to the right posterior region during mastication. The miniplates at the connection between the fibula and the mandible had failed and required reinforcement through additional fixation. During the postoperative follow-up, panoramic radiographs obtained 3 years and 1 month after surgery showed anterior dislocation of the left condyle. The left posterior interocclusal space had become narrower. The patient did not have trismus or pain in the TMJ (Fig. ). The connection between the fibula segment and ascending ramus was found to be in a position similar to that observed immediately after surgery except for displacement between the anterior part of the fibula segment and the mandible. The miniplates at the connection between the fibula and the mandible had failed with widening of the inferior border. This sign may mean that this complication resulted from inappropriate height of ramus from gonial angle area to the condyle portion. |
pmc-6441667-4 | A 61-year-old female patient diagnosed with squamous cell carcinoma (SCC stage III) of the right mandible underwent neck dissection including mandibular and side resections. A VSP simulation surgery was then performed and CAD/CAM surgical guides were fabricated using VSP data. The mandible from the right mandibular incisor to the right ascending ramus was removed and reconstructed with FFF. The FFF was fixed with miniplates, using two plates per connection point. The fibulae were connected to the ascending ramus of the right mandible, and their anterior portions were connected to the right mandibular parasymphysis and fixed with miniplates (Fig. ).
Trismus was gradually relieved after surgery, with no pain around the TMJ during mandibular function. No open bite was observed on the left mandibular molar area during mastication. During the postoperative follow-up, panoramic radiographs obtained 1 year and 3 months after surgery showed anterior dislocation of the right condyle. The miniplates at the connection between the fibula and the right mandibular ascending ramus had failed. The connection between the fibular segment and the anterior mandibular region was found to be in a similar state as that observed immediately after surgery. The interocclusal space had not narrowed in the right posterior region, and the right mandibular condyle had become dislocated in the anterior direction. This apparently resulted from a failure to maintain the connection between the fibular segment and ascending ramus, leading to severe displacement (Fig. ). The miniplates at bottom gonial angle area had failed the connection between the fibula and the right mandibular ascending ramus. The bottom gonial plate has been fixed only with one screw on the distal segment of the fibula. And finally, superior miniplate was broken. This sign means that lack of stability may cause the stress-related fatigue fracture of the plate and displace condylar segment. |
pmc-6441667-5 | A 70-year-old male patient was diagnosed with squamous cell carcinoma (SCC stage IVa) of the right mandible and underwent neck dissection including mandibular and side resections. A VSP simulation surgery was then performed and CAD/CAM surgical guides were fabricated using VSP data. The mandibular bone from the right mandibular premolar to the right ascending ramus was removed and reconstructed with FFF fixed with miniplates, using two plates per connection point. The fibulae were connected to the ascending ramus of the right mandible, their anterior portions being connected posteriorly to the right mandibular incisors and fixed with miniplates (Fig. ).
Trismus was gradually relieved after surgery, with no pain around the TMJ during mandibular function. No open bite was observed from the anterior mandible to the left molar region during mastication. Panoramic radiographs obtained 5 months after surgery during postoperative follow-up showed anterior dislocation of the right condyle. The connection between the fibular segment and the anterior mandible was bent in the posterior direction relative to its original position immediately after surgery. The connection between the fibular segment and ascending ramus could not be maintained and became bent relative to the angle of the mandible immediately after surgery. Although the interocclusal space in the right posterior region had not narrowed, the fibular segments were bent inward, while the right mandibular condyle was displaced in the anterior direction (Fig. ).
The metal plates at the connection between the fibulae and the right mandibular ascending ramus neither failed nor became exposed. Displacement of fibular proximal segment may be associated with the fibular bone destruction of junction area. This may cause the displacement of condylar portion. |
pmc-6441738-1 | A 4-years-old boy was referred to our emergency department complained of recurrent attacks of colicky abdominal pain and non-bilious vomiting 5 times in the previous 24 h. The child had allergic rhinitis and recurrent attacks of gastroenteritis in the last four months.
Upon presentation to our hospital, the child was conscious, alert, comfortable in bed, and his vital signs were stable. Abdominal examination by inspection showed normal contour without abdominal distention and no bulging mass, with normal respiratory movement. By palpation, the abdomen was soft and lax, with no tenderness or rigidity and no palpable mass. PR examination revealed no palpable mass and an empty rectum without red currant jelly stool; the child had last defecated 12 h before.
Abdominal ultrasonography revealed a long segment small-intestinal intussusception extending from the subhepatic region through the right lumber region until the right iliac fossa region, which showed a pseudokidney appearance and no abdominal collection. Plain erect abdominal X-ray showed neither air-fluid levels nor gas under the diaphragm. Only fundic gas and a small amount of right colonic gas were observed. Abdominal computed tomography (CT) was not performed due to the poor resources of our hospital.
Our decision was to perform conservative treatment with multiple ultrasonographic examinations. The conservative approach was continued for 6 h duration with nothing per mouth (NPO). He had received medical treatment in the form of IV fluid, 3rd generation cephalosporin, ampicillin/sulbactam, metronidazole and antioedematous drugs such as dexamethasone, and lasix. During this period, the child had one attack of colicky abdominal pain and non-bilious gastric vomiting. However, during this period, the child passed well-formed normal brownish coloured stool. An abdominal examination had the same results as the previous clinical examination. PR examination revealed well formed, normal brown coloured stool without any redcurrant jelly secretion. Due to the recurrent symptoms of intestinal obstruction, the senior staff made a new decision to explore the abdomen.
After the child was administrated general anaesthesia, we palpated the abdomen and felt a hemispherical mass of 4 cm × 2 cm, movable in all directions without any restriction to its movement. A supraumbilical transverse incision was performed for exploration and revealed a long segment ileo-ileal intussusception approximately 50 cm long. Milking reduction was performed easily, without any intestinal ischaemia or intestinal wall oedema. The lead point of the intussusception was a hemispherical mass, canary yellow in colour and approximately 4 cm × 2 cm. It was firm, and rubbery inconsistency, did not obstruct the lumen of the ileum and originated from the antimesenteric border of the ileum. It was located 130 cm away from the ileocaecal junction (). Resection and anastomosis of the ileal segment containing the mass were performed with 2 cm safety margin on each side.
A pathological macroscopic report described a polypoid submucosal fatty tumour 4 × 2 × 2 cm in size covered with intact mucosa. Microscopic examination showed a benign non-capsulated intramuscular soft tissue tumour formed of lobules of mature fat cells separated by delicate fibrovascular trabeculae (). The opposite small-intestinal mucosa was infiltrated by lymphocytes, plasma cells, and neutrophils. The final diagnosis was polypoid intramuscular lipoma of the ileum.
The postoperative period was uneventful, and the patient was discharged on the 7th postoperative day. At 6 months following surgery, he is free of symptoms, and no evidence of recurrence has been reported. |
pmc-6441744-1 | A 10-year-old male PH at KNR was observed ill in the morning of May 2, 2014 and died about 4 h later. Two living third-instar dipteran larvae were found on the ground near its head. The larvae were assumed to be oestrids, so the horse's nasal cavity was probed with tweezers and another four living third-instar larvae were collected. Two of the larvae were brought to the lab to pupate, and the rest were stored in alcohol for morphological study. |
pmc-6441765-1 | A 27-year-old male was presented with a chief complaint of deformity on his left shoulder since ten months before hospital admission. The patient slipped in a bathroom and fell in sitting position with left arm supporting the body. After the accident, the left shoulder was painful and looked deformed. Then the patient went to a bone setter and was massaged, but the shoulder was still painful and looked deformed. The patient used an arm sling to immobilize his left shoulder for about six months. Gradually, patient could do his normal daily activity with limited movement of left shoulder. Ten months after the accident, patient decided to seek medical help to treat his left shoulder.
The patient complained of limited movement of his left shoulder with some pain. On physical examination we found deformity on the left shoulder, liked a squaring shoulder (A), and muscle atrophy. Neurovascular examination was normal. The range of motion (ROM) of left shoulder was extension-flexion 20°–90°, abduction-adduction 20°–70°, internal-external rotation 30°–30°. The antero-posterior X-ray imaging showed anterior dislocation of left glenohumeral joint (B) and Computed Tomography (CT) scan showed a Hill-Sachs lesion on the humeral head (C). We diagnosed the patient had a neglected anterior shoulder dislocation with a Hill-Sachs lesion [] and performed an open reduction and Latarjet procedure [,] to treat this patient.
We performed an open reduction surgery using anterior approach of shoulder and found massive fibrotic tissue around the joint () and the Hill-Sachs lesion []. We removed all the fibrotic tissue to create the space for shoulder joint to be reduced. After succeeded reducing the dislocation, we inserted a Kirschner wire to add stability for maintaining the reduced shoulder, then continued on Latarjet procedure. The Latarjet procedure was performed by cutting the coracoid process and transferred it with conjoint tendon to antero-posterior part of glenoid and fixed by two screws [,].
The final result showed that the glenohumeral joint has been reduced with wire fixation (A). Post-operative X-ray showed a reduced shoulder joint (B). Unfortunately there was a claw hand on his left hand due to a neuropraxia of the ulna. The patient was discharged 2 days after surgery. We removed the K-wire after 3 weeks, then the patient started the rehabilitation program. The patient also underwent Transcutaneous Electrical Nerve Stimulation (TENS) and range of motion exercise for 12 times. We evaluated the patient for 3 months in outpatient clinic. Three months after surgery, the ulnar neuropraxia was healed but we found there were an osteolysis of coracoid graft and also an avascular necrosis of the humerus head (). The patient still had a limited ROM, (abduction 0°–100°) on his left shoulder. At ten months follow-up, the patient had no recurrent dislocation. |
pmc-6441767-1 | A previously healthy 3-month-old girl was transferred to our hospital for severe abdominal distention, post-prandial vomiting, obstipation, and anuria for the last 5 days. CT scan done prior to presentation at another hospital showed a cystic abdominal mass displacing the girl’s bowels, bladder globus, and bilateral hydroureteronephrosis (not shown). Her creatinine level was elevated reaching 4.99 mg/dl upon admission. An abdomino-pelvic MRI showed an 8.2*3.7*3.2 cm homogenous cystic multilobulated pelvic mass in the sacrococcygeal area with a 1.5*0.4*0.6 cm dural canal communicating with the mass at the S4-S5 level consistent with an anterior sacral meningocele (). To restore kidney function and prevent renal failure, a urinary foley was inserted and was successful in dropping her creatinine levels to normal reaching 0.28 mg/dl the third day.
Surgical resection was performed on the fifth day with a posterior approach starting with an incision from S3 to the coccyx and a laminectomy to expose the sacral canal. The dural communication was ligated from the rest of the thecal sac followed by cyst cerebrospinal fluid drainage.
The next day, post-operation echography showed residual cysts in the intra-abdominal cavity. Abdominal laparoscopy was done on the eleventh day to drain the remaining cysts which enabled urinary foley removal and patient’s discharge symptoms free.
A year later, the child presented back with constipation. A lumbosacral MRI showed a solid lesion of 7.5 cm of height and 6.5 cm of diameter associated with adenopathies (). An inguinal lymph node biopsy demonstrated the presence of a yolk sac tumor. Neoadjuvant chemotherapy was started. 3 months later the tumor was resected. On pathology, the tumor was found to be an extragonadal germ cell tumor composed of mature benign glial tissue, endodermal derived tissue bone and cartilage with admixed yolk sac tumor, diagnostic of malignant mixed germ cell tumor (). |
pmc-6441816-1 | This 54-year-old female was referred to the Neurofibromatosis outpatient clinic of the Oral and Craniomaxillofacial Surgery Department for treatment of numerous cutaneous tumors that preferentially covered her trunk and extremities. On admission, the patient described the tumors to be painless and disfiguring. Besides the cutaneous tumors the patient sought advice for treatment of a painful region of her left small finger (Figure 1 ). For some time the ulnar side of the distal phalanx of this finger had become very touch-sensitive. There was neither a tumor visible nor any other pathological alteration of the skin. However, the finger could not be examined by palpation. The suspected diagnosis was initially a glomus tumor [] or a non-palpable nodular PNF.
MRI at 3T revealed numerous, popcorn-like, contrast-absorbing, hyperintense formations on T2-weighted images, up to 1.2 x 1.9 cm² in size located on the palmar side of the left hand (Figure 2 ). These small lesions mainly affected the metacarpal bones II and III. MRI also showed a sharply defined lesion of max. 1 cm in diameter in the subcutaneous layer at the level of the radiocarpal joint and distal to first digit that reached to the tendons of the extensor musculature. The bony structures showed a homogeneous signal. The findings were interpreted as disseminated subcutaneous and cutaneous neurofibromas of the entire left hand. Structures were found on the distal phalanx of the left small finger whose intensity pattern corresponded to that of the other lesions.
During surgery for the excision and vaporization of numerous neurofibromas of the trunk and extremities, the pain sensitive finger region was also explored. After incision of the skin, no tumor was visible. Therefore, a circumscribed subcutaneous excision was taken as a tissue sample and examined histologically.
The tissue findings confirmed cutaneous neurofibromas for the numerous nodules excised from the trunk and extremities. Surprisingly, there was no evidence for a glomus tumor in the tissue sample of the finger. Smaller neurofibromas were differentiable in this tissue sample. Within the corium as well as in the subcutaneous adipose tissue there were some clustered Vater-Pacini (VP) corpuscles. Next to the corpuscles several small nerve fibers were present. Diagnosis of VP neuroma was made (Figure 3 ).
The nerve fibers were positive for S100 and neurofilament. S100 immunoreactivity was especially strong in the center of the corpuscle. The perineurium of the nerve fascicles and the lamellae of the corpuscles expressed epithelial membrane antigen (EMA).
The healing process of the wounds was inconspicuous. The patient noticed that the sensations of pain had diminished significantly in the area of the small finger soon after surgery. |
pmc-6441817-1 | A 65-year-old male patient (BMI 24 kg/m2) presented to our emergency department with severe epigastric pain of sudden onset and recurrent eruptive vomiting. He had never had any similar symptoms in the past. His medical history included allergic asthma, depression, appendectomy, urolithiasis and mild aortic stenosis. Abdominal examination revealed epigastric peritonism with a distended abdomen, bowel sounds were absent. Abdominal ultrasound was not informative due to massive amounts of air in the upper abdomen. Blood tests showed mild leucocytosis (10,4 Gpt/l) and a CRP-value of 13,75 mg/l. The other values including liver enzymes, INR, electrolytes, urea and creatinine were regular.
An emergency CT scan of the abdomen revealed a dislocation of the anatomical cardia to the right lower epigastrium and the gastric antrum to the left upper side (Figure 1 ), spleen and tail of the pancreas were shifted medially (Figure 2 ). The stomach appeared massively distended (Figure 3 ). There was no free gas in the abdominal cavity and there were no direct signs of gastric gangrene.
Because of the massive gastric distension and the very distressed condition of the patient we decided against an endoscopic intervention and performed an immediate exploration via laparotomy to avoid ongoing gastric gangrene. Intraoperatively the diagnosis of organoaxial volvulus was confirmed, there was ischemic congestion of the stomach without gangrene. After manual reposition the stomach appeared vital, a large bore gastric tube was inserted transorally and large amounts of air and non-digested food were decompressed. After that, we performed gastropexy of the gastric fundus to the left diaphragm with non-absorbable sutures. There was no major hiatal hernia or diaphragmatic defect. The patient made a full recovery and could be demitted 8 days after the emergency procedure. |
pmc-6442089-1 | A 46-year-old Chinese man was admitted with the initial presentations of bilateral tumor-like nodules over the neck during the past 6 months and leg edema for 15 days. The neck nodules enlarged during 6 months and were painless without pruritus or dermatitis. He also had a body weight loss of 10 kg during the past 6 months, without symptoms such as fever, cough, diarrhea, or oliguria. On examination, multiple 1 × 1 cm hard and movable masses were found over bilateral post-auricular and submandibular areas, with intact overlying skin and a sharp boundary. His blood pressure was 145/90 mmHg. Trace edema was found in his lower extremities, but other physical examination results were normal.
Complete blood count showed an increased eosinophilia count at 3.66 × 109/L (50% total leukocytes). His serum creatinine was normal, with a 24-h urine total protein of 8 g and a serum albumin of 19 g/L (normal, 40–55 g/L). Serum IgE was elevated, at 2930 IU/ml (<100 IU/ml), while IgG (3.61 g/L; normal, 7.0–16.0 g/L) and C3 (0.75 g/L; normal, 0.9–1.8 g/L) were decreased. IgG4 was within normal range. His anti-nuclear antibody and anti-neutrophil cellular antibody were normal, and hepatitis B virus surface antigen, hepatitis C virus, and human immunodeficiency virus serology were all negative. An ultrasound examination of tumor-like nodules revealed swelling lymph nodes located over bilateral neck and supraclavicular areas, while renal ultrasound, chest X-ray, and electrocardiogram were all normal.
The patient then underwent renal biopsy. Renal biopsy revealed MPGN with eosinophilic infiltration of the interstitium. Light microscopy of 15 examined glomeruli showed mesangial proliferation involving all glomeruli; mesangial matrix inserting into capillary loops; endothelial cells showing segmental swelling with hyperplasia; thickening glomerular basement membrane with diffuse dual-track sign; protein deposition under endothelial cells; and platinum loop sign (). Some of the glomeruli were infiltrated by inflammatory cells. Renal tubular epithelia showed vacuolar degeneration, with eosinophilic infiltrations noted over the interstitium, an unusual finding. Small artery did not show any abnormality. Immunofluorescent staining of 4 glomeruli showed IgA 2+, IgG 3+, IgM 4+, C3 3+, C4 3+, C1q 3+, and fibrinogen 3+ deposition along glomerular capillaries and mesangial areas. Electron microscope showed mesangial matrix hyperplasia with insertion, basement membrane thickening, with electron dense deposit in subepithelial, endodermic and mesangial region, accompanied by epithelial foot process fusion diffusely (). Tubular atrophy and interstitial fibrosis were also found, suggesting the diagnosis of MPGN, but the prominent infiltration of eosinophils was unusual, arousing the suspicion of secondary MPGN.
Meanwhile, this patient underwent lymph node biopsy, which showed eosinophilic lymphoid follicular granuloma (). Immunohistochemical staining showed positive S-100 and CD1a, but negative CD68, lysozyme, CD15, CD20, CD3, CD138, CD30, CD117, and EB virus-encoded small RNA, BCR - ABL fusion gene test was negative. A biopsy of bone marrow showed no abnormality. He was finally diagnosed as Kimura’s disease based on compatible clinical features and typical histopathological findings.
We prescribed valsartan for blood pressure control initially, with fair results (post-treatment blood pressure between 120–130/75–85 mmHg). After he received the diagnosis of Kimura’s disease, we started him on prednisone 60 mg/day (1 mg/Kg), with tapering to 55 mg/day after 2 months, followed by further reduction of 2.5 mg every 2 weeks. His bilateral post-auricular and submandibular lymphadenopathy shrank and became impalpable after the initiation of prednisone for 2 weeks. Peripheral eosinophilia subsided during the day of prednisone initiation and did not recur. 24 h urine total protein decreased gradually, accompanied by an increase in serum albumin (). Serum IgE also decreased after treatment (). The patient reached complete remission 3 months after prednisone treatment, a phenomenon that differs significantly from a typical case of idiopathic MPGN. 31 months later, he remained relapse-free and no adverse effect was observed. |
pmc-6442154-1 | A 28-year-old man presented to our medical center with pain and asymmetric penile swelling, following a penile injury sustained 1 hour previously. He described having sexual intercourse in the female superior position when, on attempting penetration, his penis bent sharply against his partner's thigh. He noticed a ‘snap’ in the left side of his penis, associated with severe pain, discoloration and deformation. The penis then began to swell and marked bruising developed along the shaft, eventually tracking down into the scrotum. He was able to void normally and had not noticed blood in his urine. On physical examination, the patient had a grossly deformed penis with swelling and deviation to the right (). There was no microscopic hematuria on dipstick urinalysis and urethral imaging was, therefore, not performed. Axial CT image demonstrated unilateral 0.8cm × 1.4cm area of tear of the left lateral tunica albuginea with adjacent hematoma. The penile shaft deviates to the right side. The imaging findings were confirmed at surgery ().
The patient was transferred to the operating room where, under general anesthesia, a defect in the middle of the left corpus cavernosum could be palpated by rolling a finger over the hematoma. He was treated by surgical exploration, evacuation of the haematoma and repair of the ruptured tunica albuginea using absorbable sutures (). The patient had good erection with no angular deformity or plaque formation after a 3-month follow-up. |
pmc-6442158-1 | A 62-year-old man, with no significant medical history, was hospitalized with left loin pain and intermittent gross hematuria. Nothing except for mild costovertebral angle tenderness was found abnormal on routine physical examination. The laboratory tests including hematologic studies and urinalysis are shown in . Abdominal contrast-enhanced CT scan revealed a 14 cm × 11 cm × 8 cm heterogeneous lobulated mass, which involved most of the left renal parenchyma, with the calcification foci and cystic spaces. Multiple patchy dense calcifications occupying the expanded renal pelvis and bar filling defect in left renal vein were also detected in the CT scan (. A 0.7 cm lung nodule was identified at the left upper lobe on the chest X-ray. In a bone scan, nuclide was distributed evenly and meristicly over the body except for the 7th thoracic vertebra, which was considered as a metastatic lesion.
With a clinical diagnosis of left renal cell carcinoma with invasion into renal vein and metastasis to the left lung and 7th thoracic vertebra, the patient underwent robot-assisted left radical nephrectomy with renal vein thrombectomy and lymph node dissection after renal arterial embolization.
The gross specimen of the removed kidney measured 16 cm × 15 cm × 9.5 cm (. The cut surface in renal parenchyma had shown a huge growth extending to renal pelvis and bulging into the perirenal fat. The cut surface also had a grayish, fleshy appearance and contained areas of hemorrhage, necrosis, and calcifications. Microscopically, the huge tumor comprised diffusely distributed sheets of round or elliptical undifferentiated cells of varying size and abundant islands of well-differentiated cartilage (. Tumor necrosis was palpable in some areas. Immunohistochemical (IHC) staining was revealed as follows: S100 (cartilage)+, SMA (+) (), Vim (+), Bcl-2 (+), CD68 (+), CD99 (+), Ki-67 (40%+), CK (−), CR (+/−), Des (−), EMA (−), WT-1 (−), CD34 (vessel+), HMB45 (−), and Melan-A (−). The tumor was perfectly resected with wide negative surgical margins, and the tumor thrombus was confirmed to be malignant. Only one renal hilar lymph node was positive among all four renal hilar lymph nodes and six retroperitoneal lymph nodes. A diagnosis of primary renal MC was made according to these pathological results.
During the follow-up, the patient presented severe headache caused by skull metastasis after postoperative 2 weeks. Considering the patient’s progressively weak condition after surgery, supportive care and pain management were pursued until the patient died of widespread metastases at postoperative 1 month, and no adjuvant chemotherapy or radiotherapy was adopted. |
pmc-6442166-1 | We report a case of a 40-years old female with a history of transurethral bladder tumor resection (TUR-BT) in 2012. She was admitted to an outpatient clinic elsewhere in January 2015 with pelvic pain and recurrent urinary tract infection for the past 4 years. Diagnostic cystoscopy elsewhere revealed stone like particles covering the bladder mucosa. Later on, several TUR-BTs had been performed to remove these lesions in various hospitals elsewhere and histopathology reports revealed non-specific chronic cystitis without tumor. Patient had a re-TUR-BT in March 2015 again elsewhere for suspicious tumor, macroscopic hematuria and voiding stone like particles in urine. A necrotic bladder mucosa containing calcified encrustations with underlying inflammatory polymorphonuclear cell infiltration with abundant blood vessels was observed. Pathology result for this TUR-BT was encrusted cystitis (EC) (). Patient had a negative urinary tuberculosis screening, negative tuberculosis culture and PCR.
Patient was admitted to our clinic with severe pain, gross hematuria, and voiding stone like particles, and she had lower urinary tract symptoms (LUTS) reminiscent of interstitial cystitis. Urinalysis showed alkaline urine with struvite crystals in the sediment. Her functional bladder capacity was 75 mL. Urine culture was sterile. An irregularity on the right bladder wall, and a moderate hydro-nephrosis at the right side was revealed with ultrasound. Filling defect at the dome and right bladder wall was also seen in magnetic resonance study (). A diagnostic cystoscopy showed a calcified, hyperemic, fragile, edematous mucosa involving the whole bladder dome and right lateral wall covering right ureteral orifice. These lesions were completely removed with TUR, and part of the material and urine from bladder barbotage was sent for specific bacteriologic culture for Corynebacterium urealyticum, which was positive. Treatment was instituted according to antimicrobial susceptibility tests. For 2 weeks intravenous teicoplanin 400 mg/day (minimum inhibitory concentration 90% 0.5 micrograms/ mL), was given, and weekly intravesical dimethylsulfoxide (DMSO) treatment was started for 6 weeks. A standard solution of 50 mL of 50% DMSO (Rimso-50®) in aqueous solution (each mL solution contains 0.54 gr of DMSO) was administrated intravesically with a 10 French catheter, weekly for 6 weeks. Patient was allowed to void after 1 hour. LUTS relieved immediately. She had a cystoscopy with normal signs of bladder at 6th month of follow-up. At 18th month follow-up she was free from any complaint and infection with a remarkably increased functional bladder capacity of 340 mL. |
pmc-6442173-1 | A 17-year-old boy diagnosed with neurofibromatosis type 1 (NF1) presented with a six-month history of hematuria, dysuria, and urinary frequency. Ultrasonography (USG) revealed diffuse thickening of the anterosuperior and posterior walls of the bladder with round, <5mm nodular echogenities in the thickened walls (). Magnetic resonance imaging (MRI) of the pelvis revealed a nodular lesion with low signal intensity on T1 and fat suppressed T1 weighted (T1-W) images; and nodular lesions with a ‘target sign’ on T2 weighted (T2-W) images. This consisted of low signal intensity fibrosis surrounded by high signal intensity stroma at the posterior of the bladder wall ( and ). The patient's symptoms were relieved after antibiotic treatment and he has had no serious complaints since then. He is now monitored by the urology outpatient clinic.
Children with NF1 should always be evaluated for neurofibromatosis of the genitourinary system (). Bladder involvement of neurofibromatosis is rare and presenting features include irritative voiding symptoms and hematuria due to recurrent urinary tract infections (). On USG, bladder involvement of neurofibromas can manifest as a focal mass or as diffuse bladder wall thickening. On MRI, neurofibromas display low-signal intensity on T1-W images and non-homogeneous high-signal intensity with a ‘target sign’ on T2-W images (). Differential diagnosis includes rhabdomyosarcoma, ganglioneuroma, and retroperitoneal fibrosis (). In a patient with NF1, the primary consideration should be neurofibroma. Generally, management of patients with NF1 and bladder involvement is conservative. If there are intractable symptoms such as hydronephrosis, bladder volume loss and suspicion for malignant degeneration, surgical treatment may be needed ().
In conclusion, conventional MRI and ultrasound are important imaging modalities for the evaluation of genitourinary involvement of neurofibromatosis disease type 1. |
pmc-6442186-1 | A 76-year-old man was admitted in the emergency department complaining of fever of unknown origin for 1 month. His medical history was only significant for stroke, but there was no history of neoplasm, trauma, chemo-radiation, or other surgeries. He was admitted with a long-term Foley catheter in situ, which was inserted one year prior due to dysuria and changed regularly every 4-5 days. The present Foley catheter was inserted 4 days prior and the patient's urine color gradually changed and was dark green on presentation to hospital. Laboratory tests showed elevated white blood cell count (17.900/μL) and C-reactive protein (5.70mg/dL). In urine analysis, pyuria was seen. Abdominopelvic computed tomography (APCT) revealed there was no evidence of urinary tract infection or acute pyelonephritis. However, malposition of the Foley catheter was seen. It was located along the urethra-prostate-rectum (-). Also, a prostatic abscess between the prostatic urethra and rectum was bulging and abutting to the anterior wall of the rectum (-); thus, we diagnosed the recto-urethral fistula (RUF) caused by prostatic abscess. The patient was treated with intravenous antibiotics and percutaneous nephrostomy for urine diversion. Fecal diversion was not performed because fecaluria was not seen. The patient improved after three months of conservative treatment (pyelostomies) and he was discharged with Foley catheter reinsertion.
RUF is an abnormal connection between the rectum and urethra that is a rare complication of pelvic surgery, radiation, trauma, or infection/inflammation. The incidence of RUF has been on the rise due to an increase in the number of surgeries and pelvic irradiation performed for genitourinary neoplasm (, ). The early diagnosis of RUF using APCT in the emergency setting is important to not only confirm the diagnosis and initiate appropriate medical management, but also ensure pre-operative localization in patients that require surgery (-). In general, conservative management can be attempted by using urinary/fecal diversion for small (<2cm), simple RUF in non-irradiated patients who do not have sepsis. In contrast, large (≥2cm), complex RUF in irradiated patients may require surgical management (, ). Our case underscores physicians need to consider the possibility of RUF for early diagnosis and management in patients with risk factor for prostatic abscess or with history of recent low urinary tract procedure. |
pmc-6442330-1 | A 20-year-old male patient, in otherwise healthy condition, came to our outpatient consultation because of painful right upper thoracic radiculopathy for 18 months without traumatism or any associated medical condition. Pain on visual analogic scale (VAS) was 7-8/10. Patient's pain was relieved by nonsteroidal anti-inflammatory drugs. Clinically, there was neither muscle contracture nor pain triggering at palpation. The pain was located 3 cm from the thoracic midline on the right side, with intercostal irradiation.
The radiographs showed no osteolysis or deformity. MRI showed a T2 hypersignal and a T1 hyposignal at the medial side of the right T1 vertebra and an inflammation of the right T1 root (). The radioisotope bone scanning showed lateral hyperfixation on the right of the T1 vertebra (). The CT scan revealed a rounded osteolytic lesion surrounded by sclerotic bone at the medial wall of the right T1 pedicle (). The lesion was adjacent to the dura mater and T1 spinal nerve. The aspect was compatible with a nidus, typically found in osteoid osteoma [].
The decision was made with the patient and our team to perform a resection by posterior approach under 3D imaging guidance. The lesion was abutted to the dura mater, so we could not perform any radiofrequency ablation, which would have required thermal ablation []. The surgery should be safe and complete without any risk of further recurrence []. We should also preserve the vertebral stability without resorting to screw fixation.
The patient was in prone position under general anaesthesia. We first controlled the vertebral level with the two-dimensional (2D) mode of our new all-in-one imaging device named Surgivisio® (Surgivisio, Gières, France). The machine is a 2D/3D C-arm made to be combined with surgical navigation. We performed a mini-open posterior approach at the C7-T2 levels (4 cm length). A reference frame was fixed with four pins through the thoracic spinous processes on the midline (). We performed a 3D acquisition with 181 images. The surgical team was out of the operating room during the scan. After 40 seconds, the 3D model was available and we could start to navigate. A precalibrated probe was used to palpate the bone surface. We drilled the lower part of the right lamina of T1. A 1 cm square-sized cortical bone surface was removed giving access to the exact localization of the lesion (). The tumor was removed using a curette and scraped from the dura mater. Additional resection was made on the surrounding bone using the Kerrison rongeurs. The navigation helped us to control so that the resection looked complete. We closed the wound with drainage for the next 24 postoperative hours. The total operative time (incision to closure) was 58 minutes. The effective dose related to the imaging device was calculated with the PCXMC 2.0 software (PCXMC 2.0, STUK®, Sweden) using the recommendations of the International Commission on Radiological Protection []. This result was 1.17 mSv for the whole intraoperative imaging.
During postoperative stay, the patient presented complete pain relief of radiculopathy without any neurological deficit or local infection. His pain was controlled with acetaminophen and tramadol. The second day after surgery, the patient was discharged. CT scan was performed the next week and confirmed full osteoma resection (). The histological examination was consistent with an osteoid osteoma (). At the 6-month postoperative follow-up, the patient showed no evidence of recurrence. He remained asymptomatic and pain-free (VAS 0/10). He was practicing sports such as bodybuilding and running without any limitation. |
pmc-6442374-1 | During anatomic study of the abdominal cavity, additional renal branches from the aortic axis were revealed in a 97-year-old male Caucasian cadaveric donor. Continued dissection outlined notable anatomic variations in the arterial, venous, and ureteric patterns. No urologic or cardiovascular issues were reported by the donor or family at the time of enrolment in the Deeded Body Program. For this type of study, Institutional Review Board approval is not required for research conducted with cadaveric specimens.
Both kidneys were retroperitoneal and similar in size with measurements of 12.3 cm (l) and 12.7 cm (r) in the craniocaudal direction. Despite the fact that the lengths were similar, there were marked differences in the relative positioning of the superior and inferior poles. The superior pole of the right kidney was situated more superiorly. The inferior pole of the left kidney was positioned near the superior border of the left common iliac artery. Although each kidney occupied an extended volume, neither kidney had a pelvic component. Hilar structures entered/exited the organs anteriorly, not with the typical medially projected hilum ().
A total of five major arteries (3l and 2r) emerged from the aortic and common iliac axes (Figures and ). The superior left renal artery originated from the abdominal aorta and supplied the superior pole. This artery (5.2 mm diameter) branched into two vessels of similar caliber to supply the upper third of the organ. Supply to the left gonad originated from the more inferior of these two branches (Figures and ). The middle left renal artery (6.1 mm diameter) originated from the iliac junction, just anterior to the median sacral artery (Figures and ). The inferior left renal artery (5.4 mm diameter) originated from the common iliac artery, and coursed posteriorly to the kidney before entering the hilum anteriorly (from the lateral aspect of the organ), to supply the inferior pole (Figures , , and ). On the contralateral side, the vasculature to the right kidney consisted of only two renal arteries, both originating from the abdominal aorta. The superior renal artery (6.2 mm diameter) branched laterally from the aorta (at the same level as the left superior renal) and supplied the superior pole. As with the contralateral side, this artery also branched into two vessels of similar caliber, but supplied the superior half of the organ (Figures and ). In contrast to the contralateral side, the right gonadal artery branched directly from the aorta at its generally observed position, just inferior to the (superior) renal artery. Arterial supply to the inferior pole (6.5 mm diameter) originated on the lateral aorta, at a level inferior to the inferior mesenteric artery, and branched into two arteries (Figures , , and ).
Multiple contributing veins, of different caliber, coalesced into four major renal veins (2l and 2r) that returned blood from the kidneys to the IVC (). The relative positioning of the superior renal veins followed the conventional pattern, entering the IVC through single vessels at a level just inferior to the superior mesenteric artery as it emerged from the aorta. On the right side, three major veins merged into a short segment (3 mm in length) to drain the superior 2/3 of the organ. The inferior 1/3 of the organ was drained through two primary contributors that merged into a single vein that ultimately drained into the IVC at the level of the previously described right inferior renal artery. A visible and substantive anastomotic connection was evident between the superior and inferior venous pathways (). On the left side, the superior renal vein received contributions from the suprarenal gland and the superior half of the kidney. Venous return from the left gonad ultimately merged into the most inferior branch of the three primary contributors to the superior renal vein (Figures and ). The inferior renal vein drained directly into the anterior aspect of the IVC at the junction of the common iliac veins, posterior to the bifurcation of the aorta. The most inferior of the three primary contributors to the inferior renal vein emerged from the posterior lateral aspect of kidney and spanned the hilum to ultimately converge into the inferior renal vein. The middle contributor emerged from the parenchyma, but was unremarkable. As on the contralateral side, a visible and substantive venous anastomotic connection was evident between the superior and inferior aspects of the kidney ().
Unilateral duplication of the kidney with concomitant ureters was evident for the right side (). Aligned with the arterial pattern of this organ, the superior ureter demonstrated a discreet collecting system with well-formed minor and major calyces draining into a defined renal pelvis. The majority of the superior renal pelvis was positioned posterior to the vasculature (Figures and ). At the inferior portion of the kidney, the hilum was more anteriorly directed with the calyces and renal pelvis more evident given their anterior position relative to the vasculature. Both ureters continued inferiorly and independently to enter the bladder (). Histological investigation of the ureterovesical junctions was not completed; however a distinct orifice near the bladder trigone was evident for each ureter. On the contralateral side, the single ureter emerged from a widened and anteriorly projected hilum (). Major calyces from the peripheral parenchyma were evident and these calyces contributed to an elongated renal pelvis. The remaining course of the left ureter was unremarkable. |
pmc-6442437-1 | A 28-year-old multigravida (gravida 2, para 1), weighing approximately 90kg, presented at 9 and a half weeks with an 18-hour history of severe right iliac fossa pain, associated with brownish vaginal discharge, dysuria, diarrhoea, light-headedness, and feeling shivery. She was afebrile and did not complain of shoulder tip pain.
Past obstetric and gynaecological history included one full-term caesarean section; there was no history of tubal or other gynaecological surgery, sexually transmitted disease, endometriosis, or subfertility treatment, nor was there a history of intrauterine contraceptive device or progestogen-only contraceptive use.
Past medical history was otherwise unremarkable. The patient was on no regular medications and was an ex-smoker, and social history was otherwise unremarkable.
On examination, the patient looked to be in pain. Her abdomen was diffusely tender, particularly in the right iliac fossa. There was no loin tenderness, no abdominal guarding, and no rebound tenderness. Pelvic examination revealed right adnexal tenderness and cervical excitation; on speculum examination, the cervix was closed and brownish discharge was noted.
Vital signs from first assessment by the ambulance service onwards are displayed in .
Urine dip was positive for protein (+), blood (++++), ketones (+++), leucocyte esterase (+), and qualitative beta-human chorionic gonadotrophin (beta-hCG).
Venous blood gas on arrival in the emergency department (ED) showed pH 7.419 (7.350-7.450), partial pressure of carbon dioxide (pCO2) 3.97 kPa, base excess (BE) -4.5 mmol/L, corrected bicarbonate (cHCO3−) 20.7 mmol/L, lactate 1.8 mmol/L (0.4-2.2 mmol/L), glucose 6.9 mmol/L (3.3-6.1 mmol/L), haemoglobin (Hb) 128 g/L (120-150 g/L), and haematocrit (Hct) 0.397 (0.360-0.470).
Laboratory blood tests on arrival in ED were as follows: total white cell count 14.1 x109/L (4.0-11.0 x109/L), neutrophils 11.1 x109/L (1.5-7.0 x109/L), Hb 130 g/L, Hct 0.375, sodium 138 mmol/L (135-145 mmol/L), potassium 4.0 mmol/L (3.5-5.0 mmol/L), creatinine 48 μmol/L (45-84 μmol/L), albumin 39 g/L (40-52 g/L), C-reactive protein 9 mg/L (0-4 mg/L), serum beta-hCG 133,561 IU/L, and HIV antibody screen negative.
On bedside transabdominal gynaecological ultrasound scan, performed in the ED approximately 2 hours after arrival, a 3.5cm intrauterine gestational sac was noted.
Formal gynaecological transabdominal ultrasound scan and Focused Assessment for Free Fluid (FAFF) ultrasound scan were performed on the early pregnancy unit approximately 3.5 hours after arrival in the ED, and showed a moderate amount of free fluid in the upper abdomen. Heterogeneous, avascular material was noted in the adnexa, in keeping with haemoperitoneum. The right ovary could not be identified, the left ovary appeared normal. An intrauterine gestational sac was noted.
Transvaginal ultrasound scan was performed immediately afterwards and showed a viable intrauterine pregnancy, with gestational sac 140mm, and crown-rump length 9mm. The adnexa was difficult to assess.
Arterial blood gas on high flow oxygen via nonrebreathe mask was performed when the patient became acutely unwell immediately following the above scan, and showed pH 7.403, pCO2 3.78 (4.67-6.00), pO2 35.86, BE -6.4, cHCO3− 19.2, lactate 1.5, glucose 6.4, Hb 102 g/L, and Hct 0.315 (0.350-0.500).
Haemoperitoneum was diagnosed, with a differential diagnosis of either a ruptured spontaneous heterotopic pregnancy or a bleeding haemorrhagic corpus luteal cyst.
In the scanning room on the early pregnancy unit, 4 hours after arrival in the ED, the patient complained of worsening, predominantly right-sided pain, and dizziness. She was re-examined and found to be cold and clammy with increased abdominal distension but no guarding. Vital signs recorded at the time were oxygen saturations of 100% on 2 litres of oxygen via nasal cannulae, heart rate of 76 bpm, and blood pressure of 90/59 mmHg. The patient became less responsive and the hospital medical emergency team was summoned. Intravenous crystalloid fluids had deliberately been withheld until this point in keeping with a hypotensive resuscitation strategy.
The patient was taken to the operating theatre where anaesthesia was induced approximately 6 hours after the patient's arrival in the ED. Having surgeons with advanced laparoscopic skills available, the decision was made to proceed with laparoscopic surgery (in most cases, surgeons might proceed with laparotomy).
Laparoscopic right salpingectomy and peritoneal lavage were performed (Figures and ). Two units of red blood cells were transfused.
Summary of operative findings and procedures is as follows:Left ovary/tube normal Right tube engorged with rupture at isthmo-ampullary junction with extruding trophoblastic tissue and active bleeding from site of rupture 3900ml haemoperitoneum with large clots in pelvis, paracolic gutters, and upper abdomen Right tubal ectopic located and right salpingectomy performed Robinson's drain inserted to allow remaining blood to drain
Postoperative recovery was uneventful. Hb and haematocrit reached a nadir of 76 g/L and 0.226 2 days after surgery (Hb and haematocrit were 130g/L and 0.375 on arrival in the ED, and 2 units of red cells were transfused intraoperatively); this time lag is in keeping with the known delayed fall in Hb after haemorrhage.
Formal early pregnancy ultrasound scan performed 3 days post-operatively showed a viable intrauterine pregnancy of gestational age 9 weeks + 1 day ().
The patient was discharged from hospital 3 days after surgery, with a plan for a follow-up ultrasound scan in 2 weeks' time and iron supplementation.
Despite being critically ill with massive blood loss, her intrauterine pregnancy has developed normally. She is currently 27 weeks pregnant. Her routine dating and anomaly scans (performed at 12 weeks + 6 days and 20 + 6 days, respectively) demonstrated normal growth, amniotic fluid index, and uterine artery Dopplers.
She is to have early ultrasonography in future pregnancies. |
pmc-6442439-1 | A 69-year-old man affected with IgA nephropathy received his third deceased-donor kidney transplantation in 2015 after two previous grafts were lost due to primary nonfunction. Immunosuppression consisted of thymoglobulin induction, tacrolimus, mycophenolate, and prednisone. Baseline serum creatinine was 1,5 mg/dl with normal urinalysis.
In November 2017, he was admitted to hospital because of fever with positive blood culture for Staphylococcus aureus. He was treated with cloxacillin plus daptomycin and endocarditis was ruled out with a transesophageal echocardiography, with negative control blood cultures. After six days of treatment he developed a nephritic syndrome with hemodialysis requirement. Immunofixation and autoimmunity tests were negative, but a C3 consumption was observed. A kidney biopsy showed diffuse alteration of the glomerulus structure with marked endocapillary inflammatory hypercellularity, double contours, and crescent formation. Immunofluorescence was positive for C3 and IgG. It was compatible with PIAGN with endocapillary and extracapillary proliferation (). Donor Specific HLA-Antibodies were not detected. The patient was treated with three pulses of methylprednisolone (500 mg/day) and plasma exchanges without response, remaining dialysis dependent. A new biopsy showed chronicity signs, with fibrous capsular thickening, fibrous crescents, and retracted glomeruli. |
pmc-6442439-2 | A 65-year-old man with end-stage renal disease (ESRD) secondary to diabetic nephropathy received his first deceased-donor kidney transplantation in 2013. Immunosuppression consisted of thymoglobulin induction, tacrolimus, mycophenolate, and prednisone. Baseline serum creatinine was 1 mg/dl with normal urinalysis.
On January 31st, 2018, he was hospitalised due to Herpes Zoster Virus meningoencephalitis, treated with acyclovir for 2 weeks with good response. Having no symptomes of encephalitis, he suffered from influenza A infection on February 10th, treated with oseltamivir. Six days later that infection, he developed a nephritic syndrome with dialysis requirement. Immunofixation and autoimmunity tests were negative, but a C3 consumption was present. Donor Specific HLA-Antibodies were not detected. A graft biopsy showed glomerular endocapillary inflammatory hypercellularity and reactive hyperplasia. Immunofluorescence was positive for IgA and C3 () and IgA-dominant PIAGN diagnosis was made. Three methylprednisolone pulses (250 mg/day) were administrated without response and need for chronic hemodialysis. |
pmc-6442441-1 | A 62-year-old Japanese male with a history of heavy alcohol consumption and smoking was brought to the emergency department due to altered mental status. He was confused and disoriented, with a Glasgow Coma Scale score of 8 (E2V2M4). His vital signs were as follows: respiratory rate: 36 breaths/min; pulse rate: 124 beats/min, blood pressure: 122/84 mmHg; and temperature: 35.9°C. Physical examination was unremarkable except for gross emaciation (height: 160 cm; weight: 32.2 kg; body mass index: 12.6). Also, no obvious abnormal neurological findings including paralysis or ocular movement disorder were observed. Arterial blood gas analysis revealed severe respiratory acidosis with pH: 7.187; PaCO2: 110.3 mmHg; PaO2: 145.9 mmHg; HCO3−: 30.6 mmol/L; base excess: 6.8 mmol/L; lactate: 4.0 mmol/L; glucose: 104 mg/dl on 10 L/min of oxygen. Laboratory data showed hyponatremia of 117 mEq/L without any other abnormal findings. The patient was intubated and mechanically ventilated due to his altered level of consciousness resulting from severe hypercapnic respiratory failure. While computed tomography (CT) examination of the head revealed no abnormalities, abdominal CT showed dilatation of the stomach and second portion of duodenum (). He was admitted to the emergency intensive care unit for further management.
The patient received intravenous omeprazole for stress ulcer prophylaxis and ampicillin/sulbactam for suspected aspiration pneumonia from day 1. When his estimated original PaCO2 level was restored (around 60 mmHg), his neurological state improved. On the second day, an enteral feeding was initiated through a nasogastric tube at 10 mL/h and advanced by 5 mL/day every 48 hours, as no gastric contents had been drained. Tracheostomy was performed on day 5 because prolonged ventilatory support had been expected.
On day 11, he complained of epigastric and left upper quadrant tenderness without guarding or rebound tenderness. In addition, a total of 500 cc of gastric fluid mixed with a material resembling coffee-grounds was drained through the nasogastric tube. His white blood cell count rose to 22,130 /μL with neutrophils 95.8%. Persistent abdominal pain and detection of ascites by ultrasound led us to perform contrast-enhanced CT, which revealed intraluminal air in the distended gastric wall with hepatic portal venous gas (). Esophagogastroduodenoscopy (EGD) demonstrated edema, redness, and erosion, with a white coating throughout the stomach without evidence of active bleeding or obvious necrotic lesions ().
As the patient had been hemodynamically stable with benign abdominal findings and without elevation of lactate levels, he was successfully managed with nonoperative treatments including intravenous vancomycin and meropenem, bowel rest, and nasogastric tube decompression. Blood cultures obtained on day 11 showed no growth. Follow-up abdominal CT scan on day 19 showed improvement of the gas in the stomach and portal vein (). The aorta-superior mesenteric artery (SMA) angle and distance were 17 degrees and 4 mm, respectively (), suggesting SMAS as an underlying condition. Complete resolution of the erosive lesions was confirmed on repeat EGD on the same day (). Enteral nutrition was resumed uneventfully. Thereafter, the patient was transferred to another hospital for rehabilitation. |
pmc-6442444-1 | This 16-year-old male presented to the emergency department with new onset headache and visual changes of 2 days duration. The headache was described as sudden in onset, constant in nature, and bitemporal in location. This was associated with development of vision loss 1 day characterized by darkening of his vision, progressing from the superior to the inferior visual fields that lasted approximately 30 minutes with subsequent persistence of blurry vision. Without resolution of his symptoms, he presented to the emergency department.
On questioning, there was no prior history of seizure activity or of precocious puberty, or of genital abnormalities at birth. He had undergone corrective surgery for polydactyly of the left hand at 9 months of age. Polydactyly was also reported in his mother and elder brother.
His neurological examination was benign without abnormalities of extraocular movements, pupillary reflexes, facial motor strength, or sensation; he did not have papilledema. His genitourinary examination was normal and appropriate for age. Inspection of the left hand revealed webbing between the 3rd and 4th digits, with a well-healed scar on the ulnar aspect over the 5th metacarpophalangeal joint.
CT scan of the head without contrast identified a 30 mm mass in the suprasellar region. Follow-up MRI of the brain with and without contrast confirmed this, identifying a nonenhancing, 30 x 27 x 30 mm mass along the midline of the posterior aspect of the suprasellar cistern contiguous with the posterior floor of the hypothalamus and tuber cinereum (). The mass was isointense to the gray matter on all sequences and appeared to produce significant mass effect on the posterior aspect of the optic chiasm and both optic tracts, with anterior displacement of the pituitary stalk.
Hormonal testing revealed intact anterior pituitary gland function. There were no symptoms suggestive of central diabetes insipidus. Serum germ cell markers were negative. Formal visual field testing did not exhibit deficits. Formal otolaryngology evaluation did not reveal a bifid uvula or epiglottis.
Radiographs of the left hand revealed several morphologic abnormalities, including partial fusion (syndactyly) of the 3rd and 4th metacarpals, and polydactyly of the middle and distal phalanges of the 5th finger ().
While the headache persisted for 24 hours and then resolved with use of analgesics, the visual changes resolved spontaneously within 4 hours of admission. The hypothalamic hamartoma was suggested to be asymptomatic and not the cause for his temporary visual loss. Other etiologies were not identified.
Based on the polysyndactyly of his left hand and MRI findings consistent with a hypothalamic hamartoma, PHS was considered.
While optic nerve decompression via right supraorbital craniotomy was considered because of the acute visual changes, the multidisciplinary team and patient elected for close follow-up without intervention in light of the syndromic presentation, negative formal visual field testing, and historically benign nature of hamartomas.
Subsequent gene sequencing of GLI3 performed at GeneDx (Gaithersburg, MD) revealed a heterozygous c.2388delT variant causing a frameshift, starting with codon Leucine 797, changing the amnio acid Leucine to a Tyrosine, and thus creating a premature stop codon at position 12 of the new reading frame, denoted p.Leu797TyrfsX12. This pathogenic variant is predicted to cause loss of normal protein through protein truncation. This variant had also not been previously reported. We were unable to clinically and genetically evaluate his mother and brother. Genetic counseling was offered but declined by the family. |
pmc-6442445-1 | A 70-year-old Caucasian woman with no past medical history presented to her local care facility after sustaining a mechanical fall the day prior to presentation. She endorsed progressive fatigue, weakness, and dyspnea on exertion in addition to symmetric, bilateral lower extremity numbness for two months. Per her husband, she had become progressively more confused over the past week in addition to endorsing new onset jaundice and scleral icterus.
On initial presentation, she was confused and dyspneic. Lab work was significant for a severe anemia with a hemoglobin of 5.7 g/dL (12–16 g/dL). She received four units of pRBCs and was subsequently transferred to our care facility for further evaluation. On presentation, temperature was 36.3°C, pulse 70 bpm, blood pressure 105/57 mmHg, respirations 18, and oxygen saturation of 100% on room air. Physical exam findings were significant for mild scleral icterus and palpable splenomegaly. The patient was initially oriented to person only; however, the remainder of the physical exam, including the neurological exam, was unremarkable without motor or sensory deficits on initial presentation. Initial laboratory studies were significant for pancytopenia with WBC of 1.8 K/mm3 (4.0–11.0 K/mm3), hemoglobin of 8.3 g/dL (12–16 g/dL), MCV of 103 fL (78–100 fL), RDW 24.7% (11.0–15.0%), haptoglobin of <10 mg/dL (43–212 mg/dL), and platelets of 44 K/mm3 (130–450 K/mm3) (). Direct antiglobulin test was negative. Her chemistry profile was significant for a total bilirubin of 3.7 mg/dL (0.2–1.3 mg/dL) with a direct bilirubin of 1.3 mg/dL (0.1–0.5 mg/dL), and a lactate dehydrogenase of 1908 IU/L. Liver chemistries and serum creatinine were normal. Examination of a repeat peripheral blood smear was significant for hypersegmented neutrophils and moderate ovalocytes (). In addition, there was concern for schistocytes on the initial smear prompting concern for TTP. At the time of presentation, ADAMTS13 activity was pending. Initially, the patient underwent plasmapheresis starting on admission, for a total of three days in addition to prednisone. Repeat smear was significant for hypersegmented neutrophils and a macrocytic normochromic anemia without evidence of an increase in schistocytes or microspherocytes to suggest a hemolytic process. Serum B12 level drawn on admission was <150 pg/mL (200–650 pg/L). Serum folate level was normal, and serum methylmalonic acid level was ordered to confirm the diagnosis of B12 deficiency and was significantly elevated at 36090 nmol/L (87–318 nmol/L). Anti-intrinsic factor antibodies were positive. In addition, the patient was found to be hypothyroid with TSH of 13.53 mIU/L (0.4–4.0 mIU/L) and free T4 of 0.58 ng/dL and was started on synthroid at 100 μg daily. The ADAMTS13 result eventually returned within normal limits. Therapy with intramuscular B12 was begun with 1000 μg daily, initiated on the same day as plasmapheresis, for one week followed by 1000 μg weekly for four weeks and then monthly thereafter for life. The patient continued to clinically improve with treatment. Repeat vitamin B12 levels one month after therapy were >2000 pg/mL. CBC values also normalized after therapy ( and ). Two months after initial therapy, the patient's confusion had resolved; however, her bilateral lower extremity neuropathy continued to persist until the initiation of gabapentin outpatient. |
pmc-6442451-1 | An asthmatic male patient 63 years old presented to our University hospital with a severe groin pain and limitation of movement. Cementless THR on the right side was done for corticosteroid-induced AVN 7 years ago. Five years later, he experienced a progressive hip pain with a progressive decrease in walking ability.
AP X-ray of the pelvis showed loose cup with migration, medial to Kohler’s line and proximal migration of the stem (). CT confirmed the intrapelvic protrusion and showed extensive osteolytic defect with suspicion of pelvic discontinuity ().
CT angiography showed mild displacement of the external iliac vessels and excluded aneurysms ().
The preoperative work-up (CBC, ESR, CRP), performed to exclude infection, was normal. We decided to go through a single-stage procedure, the pararectus approach for cup extraction and pelvis discontinuity fixation and a direct lateral approach for components’ revision.
With the assistance of a general surgeon, the pararectus approach was performed as described by Keel et al. []; the patient lied in the supine position and the skin incision is made starting from a point at the junction of the lateral and the middle thirds of the line connecting the umbilicus with the ASIS to a point at the junction of the middle and the medial thirds of a line connecting the ASIS with the symphysis. The subcutaneous fat and the deep layer of the fascia of the anterior abdominal wall are incised in line with skin incision. The rectus sheath is then incised at the lateral border of the rectus abdominus muscle. The fascia transversalis is incised longitudinally to enter the extraperitoneal space. The peritoneum is retracted craniomedially. Now, the external iliac artery and vein, the iliacus and psoas muscles with the femoral nerve, and the vas deferens are isolated and retracted using rubber catheters.
After isolation of the vessels and the vas, there was a thick fibrous membrane surrounding the cup and adherent to the vessels, as the usual in the case of chronic intrapelvic protrusion. After careful dissection from the vessels, the membrane was incised. The head was removed first to improve access to cup (). Careful dissection was done around the dome screw to avoid injury of the ureter, then the cup was extracted safely. Then plating of the anterior column was done to fix the suspected pelvic discontinuity ().
After closure of the pararectus approach, the patient was turned to the lateral decubitus position, and through a direct lateral approach, the stem was removed to access the acetabulum. Then the acetabulum was reconstructed with the use of floor and rim mesh with impaction grafting followed by stem revision (). Three specimens for culture and sensitivity and a specimen for biopsy were taken from each side, which were proven to be negative later on. Toe touch only was allowed in the first three months postoperatively and then gradual weight bearing thereafter. |
pmc-6442452-1 | A 14-year-old female presented with unsteady gait and back-pain. She had undergone two previous spinal surgeries in the recent past at another hospital. The previous medical-records showed that the girl developed insidious-onset, progressive spastic sensory-motor paraparesis. MRI of the dorsal-spine () suggested an intensely enhancing cystic-haemorrhagic septate expansile lesion (5.7 × 3.1 cm) involving D5 vertebra with epidural extension (D4–D5) causing marked spinal-cord compression and oedema. The lesion was hypo-hyperintense on T2WI, with intense heterogeneous enhancement. T1 hyperintense signals suggested haemorrhagic component. SAE was ruled out by the interventional neuro-radiologist due to potential risk of vascular insult to the spinal-cord. An intra-lesional excision was done and D4–D6 unilateral pedicle screw-rod fixation was performed. After 2 days of initial neurological improvement, the patient developed neurological worsening, which was attributed to a compressive surgical mass. Following re-exploration and removal (), the patient had recovery for a period of 2 months, but again worsened neurologically. MRI revealed an increase in the epidural mass with spinal cord-compression. The patient presented to the authors at this stage. A revision decompression was performed and circumferential reconstruction was done with a mesh-cage and bilateral pedicle-screw-rod fixation from D1 to D8. She made a significant neurologic recovery (). Histopathology revealed an ABC (). After 3 months, the patient had recurrent symptoms again in the form of back-pain and unsteadiness of gait that was explained by an epidural lesion (3.4 × 2.5 cm) compressing the spinal cord with myelomalactic changes (). The situation had a significant negative psychological impact on the young girl. Alternative treatment options were sought and finally treatment with Denosumab was offered to the patient after thorough counselling regarding the expected benefits, experimental nature and possible adverse-effects.
Treatment was begun using the regimen described for treating GCT [–] (120 mg sc D1, 8, 15, 28 and then monthly). She improved within a month’s time. MRI at 2 months of therapy documented significant resolution of epidural compressive mass and MRI at 6 months depicted complete resolution (). Denosumab treatment was discontinued at 6 months and scans at 1 and 2 years showed no recurrence. CT at 2 years showed ossification of the lesion with remodelling of the spinal canal and incorporation of the mesh-cage (). |
pmc-6442480-1 | A 39-year-old male patient, smoker, presented in the outpatient clinic with chronic neck pain radiating to the right upper limb. The patient had no history of chronic disease and no previous surgeries. Cervical magnetic resonance image (MRI) demonstrated multilevel cervical disc herniation (C3-C4, C4-C5, C5-C6) with T2 high signal intensity changes (). The patient examination was normal except for cervical muscle spasm and tenderness. Preoperative laboratory examination was within normal range. After the failure of standard conservative treatment, anterior 3-level ACDF was recommended.
Standard microscopic anterior ACDF approach in general anesthesia with endotracheal tube was carried out. During surgery, the patient was in supine position with the extension of the neck by the support of the shoulders with a pillow, plaster traction of both shoulders, and Fixation of the head with plaster. For the interbody spaces, PEEK cages of size 5.0 mm were used. Interpretatively there were no complications or bleeding. Surgery duration was 2 hours and 50 minutes. The patient recovery from general anesthesia was smooth with no delaying or complication. The first 18 hours after surgery were uneventful with normal postoperative cervical X-ray.
However, 18 hours after surgery, he developed a sudden loss of consciousness. Clinical examination showed 8-9/15 score on Glasgow Coma Score (GCS), blood pressure 110/70 mmHg, temperature 37 degrees, pulse 84 beats per minute, oxygen saturation 98%, and blood glucose 113 mg/dl by glucometer with normal ECG. Urgent brain and cervical CT was done (); no abnormality was detected in brain and cervical spine.
CT Angiography and MRI were not available at this time. Bilateral carotid Duplex ultrasound revealed normal blood flow in both carotid arteries. Full laboratory investigations were done and were within normal. Provisional diagnosis as stroke was done and the patient was transported emergently to the intensive care unit (ICU) for observation under heparin 1000 IU infusion/hour.
In the second postoperative day, the patient showed some improvement in level of consciousness with slurred speech, hypersomnia and loss of interest, right sided ptosis with vertical gaze palsy and diminished light reflex, memory impairment (amnesia), and right upper limb paralysis.
On the 3rd day, CT brain and angiography revealed a bilateral thalamic with upper brainstem ischemic infarction (), with total occlusion of Rt vertebral artery from its origin and normal flow in both carotid arteries. On the same day, the patient shifted back to neurosurgery department. Heparin infusion was stopped and shifted to clexane 80mg SC bid with the addition of cerebrolysin, ginkgo biloba+Mg, Trental, and a multivitamin.
On the 7th day after operation, patient was shifted to rehabilitation, with the improvement of the upper arm paralysis and cerebellar ataxia.
After 2 weeks, brain and cervical MRI showed a bilateral thalamic infarction with no compression on the spinal cord (). Clinical examination after two weeks showed GCS 15/15 with normal speech, no cerebellar ataxia, no upper limb paralysis, but continuing to have hypersomnia and loss of interest with aggressive response (behavior changes), amnesia (mainly short memory amnesia), and downward gaze palsy.
At 3 months of follow-up, CT Angiography revealed a bilateral hypodense area in both thalami with no recanalization of right vertebral artery (). The patient was conscious and oriented, full motor power, normal gait, no speech, sleep, and behavior deficiency. Intermittent short memory amnesia and downward gaze palsy were still present. |
pmc-6443108-1 | A 63-year-old man, who had had ankylosing spondylitis, was involved in a motor vehicle accident that caused a C6 burst fracture and incomplete spinal cord injury. He presented with marked left paraparesis, particularly weak in his left shoulder and arm. Also, he had had Type 2 diabetes and was wearing a neck collar for cervical spondylosis when the accident took place.
There was a burst fracture of the C6 and a fracture of the lamina in addition to a herniated disc at C5-6 level, which caused spinal cord compression and increased intramedullary signal intensity on T2 weighted magnetic resonance imaging (MRI) (Figure ). In order to improve the spinal alignment, the patient was admitted to the intensive care unit for halo traction prior to surgery. The patient then underwent circumferential decompression and fixation, which involved a corpectomy of C6 and total laminectomies of C3 to C7 with anterior instrumentation of plate and screws and posterior lateral mass screws at C5 and C7 (Figure ). The surgery went smoothly and the hospitalization was uneventful. There was a significant improvement in muscle power, and he was able to ambulate at discharge. The patient had been kept in a neck collar postoperation.
Three weeks postoperation, there was a sudden onset of right hand weakness, the opposite side of his initial presentation. The CT scan demonstrated plate and cage dislodgement that was anteriorly dislocated over the C7 vertebral body (Figures -). There was no dysphagia so we decided to treat him conservatively. He was then put into a halo-vest for immobilization, and his muscle power gradually improved to that of postoperation in a few days. Thus, the patient was discharged to a rehabilitation facility with a halo-vest. At three months postoperation, the patient opted to undergo revision surgery due to the discomfort caused by the halo-vest. Unfortunately, we could only remove the cervical plate rather than restore the corpectomy cage because it was incorporated into the neighboring vertebral bodies, C5 and C7. Under intraoperative inspection, the porous metallic cage was integrated by bony growth and the interfaces between the cage and vertebral bodies were firm and covered by new bone. The lateral radiograph obtained two months after the second operation demonstrated the persistently dislocated metallic cage without any movement (Figure ). A CT scan also confirmed that the metallic cage was maintained in an unwanted position four months after the second operation (Figure ). The cage seemed to have no movement during the interval period in which the patient was kept in a neck collar and free of symptoms.
Surprisingly, the metallic cage disappeared on a subsequent radiograph obtained at 18 months after the second surgery (Figure ). The patient had no weakness, nor signs of spinal cord compression. The serial image studies showed no interval changes of posterior screws except the disappeared metallic cage. The MRI scans also confirmed that the cage was no longer visible at the interbody space, nor around the sub-axial pre-vertebral space, or anywhere in the vicinity (Figures -). The patient underwent thorough evaluations in an attempt to locate the missing metallic corpectomy cage, including 36-inch radiographs (Figure ). However, none of the examinations could identify the metallic cage. An upper-gastrointestinal pan-endoscopy was also performed, but neither scars nor perforation signs were identified at the oropharyngeal mucosa. A Barium swallowing test demonstrated a pouch extending from the posterior wall of the cervical esophagus with the transient accumulation of contrast media (Figure ) which could be thought of as the possible perforation region, although the patient denied any symptoms. Throughout the entire process, since the first surgery, the patient denied any symptoms of gastrointestinal problems or discomfort during defecation. He had never experienced nor noticed a foreign body coming out from the mouth or anus. There was absolutely no other surgery or endoscopic procedures for the removal of the cage during the whole course. Therefore, we reasonably infer that the metallic corpectomy cage may have perforated through the esophagus and had been eliminated through the gastrointestinal tract during defecation without symptoms. To date, the patient has remained free of neurological or gastrointestinal symptoms. |
pmc-6443318-1 | A 57-year-old male, who was previously hypertensive and diabetic, was treated with
hydrochlorothiazide, enalapril, and metformin as an outpatient and was admitted to
the Hospital das Clínicas da Faculdade de Medicina da Universidade de
São Paulo with dysarthria, left hemispatial neglect, and complete and
proportional left hemiplegia. After formulating the hypothesis of stroke, the stroke
protocol was activated. Computed tomography (CT) of the skull showed no signs of
bleeding, and computed tomography angiography of the intra and extracranial arteries
revealed occlusion at the origin of the right middle cerebral artery with caudal
extension to the ipsilateral internal carotid artery.
The patient underwent thrombolysis after 3 hours and 53 minutes. During the
observation period in the emergency department, the level of consciousness of the
patient decreased, and thus he required endotracheal intubation. The control CT scan
of the skull showed right hemispheric edema, which was consistent with malignant
middle cerebral artery infarction (). A
right fronto-temporo-parietal decompressive craniectomy with classic durotomy was
indicated and performed within 24 hours of the stroke, and the patient was
transported to the intensive care unit (ICU) after the surgical procedure.
Despite the extensive craniectomy, neurological deterioration increased over the next
several days. Since the patient underwent the most effective therapy to control
intracranial hypertension without success, we chose not to implement other measures
for intracranial hypertension. On the fourth day of his ICU stay, the patient lost
all body reflexes, was hypotensive and was likely brain dead. The tomographic series
is described in . Then, at
approximately 8 o'clock, we initiated life-support measures and the brain death
protocol for this potential donor and notified the organ and tissue procurement
service of the hospital.
The patient became hemodynamically unstable during the hours following brain
death. We performed volume expansion and initiated an infusion of noradrenaline
and vasopressin. The bedside echocardiogram did not show significant changes in
left or right ventricular function. We decided to start hormonal resuscitation
with the enteral administration of thyroid hormone (levothyroxine 100µg),
hydrocortisone (50mg every 6 hours), and infusion of glucose and insulin
(0.5U/kg/hour). The patient achieved hemodynamic stability but with a moderate
dose of vasopressors.
Despite hemodynamic stabilization, the patient also presented with moderate
hypoxemia (PaO2/FiO2 ~ 110), and thus it was difficult to
perform the apnea test. No clinical evidence of respiratory infection was
observed. An ultrasound showed pulmonary collapse in both lung bases, which was
not observed in the chest X-ray obtained the previous day ().
We maintained the patient in volume-controlled mode with a respiratory rate (RR)
of 22 bpm (breaths per minute), a positive end-expiratory pressure (PEEP) of
5cmH2O, an FiO2 of 1, a tidal volume (TV) of 370mL,
and an initial PaO2 of 109mmHg. We used a closed suction system and
attempted to perform a recruitment maneuver with PEEP elevation up to
20cmH2O, which was interrupted due to hemodynamic instability and
worsening of oxygenation. At that time, we maintained the final PEEP at
8cmH2O.
To achieve safer levels of PaO2, we placed the patient in a prone
position. A PaO2/FiO2 ratio of 171mmHg was obtained once
the patient was in a prone position along with an RR of 22bpm, a PEEP of
8cmH2O, an FiO2 of 0.4, and a TV of 370mL.
Since we did not reach the values stipulated by the new resolution, while keeping
the patient prone, we chose to use a higher FEEP (15cmH2O) associated
with the recruitment maneuver and increased the FiO2 to 1, which
maintained the RR at 22bpm and the TV at 370mL. This way, we obtained a
PaO2 of 165mmHg.
In the last attempt, we chose to increase the TV up to the plateau pressure limit
(8mL/kg for maximum plateau of 30cmH2O), with TV of 480mL, while not
modifying the other parameters. These measures resulted in
PaO2/FiO2 of 241mmHg and PaCO2 of 41mmHg,
thus we started the apnea test.
summarizes the ventilatory
parameters and the gasometric findings in each stage.
The apnea test is based on the absence of respiratory movements after maximal
stimulation of the respiratory center by hypercapnia (PaCO2 >
55mmHg).() The test should be stopped whenever the
following is observed: (1) respiratory movements (negative apnea test), (2)
hemodynamic instability, or (3) severe hypoxemia.()
Since the patient required several maneuvers to achieve adequate oxygenation
before the test, we elected to perform the test with the patient in a prone
position with a continuous positive airway pressure (CPAP) valve placed in the T
tube through which oxygen flowed at a rate of 12L/minute, as previously
described.() From a hemodynamic standpoint, the patient
tolerated the test, as he maintained 100% saturation throughout the test;
moreover, posttest arterial blood gas analysis confirmed the validity of the
test ().
We completed the apnea test and the first clinical trial at 5:30 p.m. on the same
day, which resulted in a 10-hour delay in relation to the suspected diagnosis of
brain death. The second clinical trial was initiated at 7:15 p.m. by another
specially trained intensivist. Complementary examination (transcranial Doppler)
showed total cerebral circulatory arrest. The patient's family members agreed
that the patient could donate his organs, and procurement was scheduled for the
following morning. However, overnight, the patient developed circulatory arrest
due to refractory shock, and no organ procurement was possible. |
pmc-6443513-1 | Our patient is a 67-year-old male with a history of hypertension, type 2 diabetes, and hyperlipidemia, who went through the Inova Movement Disorders Program due to a history of fluctuating, progressing uncontrollable movements of the left side of his body. He reports these movements had been present for around 10 years, worsening over time.
At baseline, he always felt that his left arm and leg were moving, at times exhibiting large amplitude movements which could knock things down or affect his walking, making him fall. He described it as abnormal, uncontrollable movements that made his arm ‘reach around or fling out’ His leg was also described to ‘dance on its own.’ While at baseline, these were present but minimal stress or anxiety would exacerbate the movements. There were no movement issues on his right side, nor any facial movements noted.
His exam showed episodic, mild with some interspersed moderate-amplitude quick movements of the left hand, forearm, proximal arm muscles, as well as movement of the left leg. These were not suppressible, brought out more by distraction or with anxiety, such as discussing an MRI scan as he was claustrophobic. He also demonstrated some lateralizing movements of the head to the left, but no facial or tongue movements. His right side showed no such signs, and his neurological exam was otherwise unremarkable.
He was sent for a CT scan of the head initially due to a fear of MRI scanners, and was found to have asymmetric calcification of the right caudate nucleus and anterior putamen (Figure ). The calcification spared the anterior limb of the internal capsule. Laboratory work for parenchymal calcification was then sent and was normal. The MRI of the brain with contrast demonstrated both hypointense gradient echo (GRE) signal in the right caudate nucleus and putamen, as well as an underlying DVA (Figures -).
Given the lateralizing of his deficits and correlation with opposite hemispheric parenchymal calcification, he was diagnosed with unilateral hyperkinetic movements as a product of putamen and caudate calcification from an underlying DVA. Consideration was made for focal hemorrhage, but presentation and imaging were not thought to reflect this pathology. He was then treated with 0.25 mg clonazepam 2x daily with significant improvement in his hyperkinetic movements. |
pmc-6443515-1 | A 63-year-old male presented to the emergency department with a one-day history of melanotic stools. He also reported shortness of breath and epigastric abdominal pain. The patient denied using any non-steroidal anti-inflammatory drugs (NSAIDs) and has a remote history of alcohol abuse. He was not on anticoagulation.
The patient has a history of an immunoglobulin A (IgA)-Kappa type, solitary chest plasmacytoma treated with radiotherapy with a subsequent initial remission two years ago. Later on, another plasmacytoma in the right femoral shaft was found and treated with radiotherapy. One month before the presentation, he was diagnosed with oligosecretory MM. He was started on cyclophosphamide, bortezomib, and dexamethasone and received two cycles. On physical examination, vital signs were significant for tachycardia with a pulse of 104 beats per minute, blood pressure of 107/70 mmHg, respiratory rate of 18 per minute, and temperature of 97.5 degrees F. He appeared in mild respiratory distress and was noted to be pale. Bowel sounds were present, and the abdomen was soft, non-tender, and non-distended.
Laboratory tests on admission showed a hemoglobin of 6.5 g/dL (normal range: 13 - 17), a white blood cell (WBC) count of 4.5 k/mm3 (4.2 - 10.3), and a platelet count of 121 k/mm3 (150 - 410). After a one unit packed red blood cell (RBC) transfusion, his hemoglobin came back 5.4 g/dL. Additionally, his other laboratory studies showed a prothrombin time (PT) of 14.6 sec, internationalized normalized ration (INR) of 1.29, urea nitrogen of 27 mg/dL (7 - 20.6), creatinine of 1.1 mg/dL (0.7 - 1.3), calcium of 8.6 mg/dL (8.4 - 10.6), total protein of 6.5 g/dL (6.4 - 8.3), albumin of 2.6 g/dL (2.8 - 4.5), and a lactate dehydrogenase (LDH) of 229 U/L (125 - 220).
His last positron emission tomography-computed tomography (PET-CT) scan revealed hypermetabolic lesions in the right kidney, stomach, spleen, pancreas, and right proximal femur. His last immunofixation study demonstrated an immunoglobulin M (IgM) level of 23 mg/dL (40 - 230), immunoglobulin G (IgG) of 373 mg/dL (700 - 1,600), IgA of 502 mg/dL (91 - 414), and kappa/lambda ratio of 6.59 (0.28 - 1.65).
After initial fluid resuscitation and blood transfusions, he had an emergent esophagogastroduodenoscopy which showed a deep, cratered, oozing gastric ulcer measuring at least > 7 cm on the proximal body extending posteriorly to the greater curvature of the gastric body with adherent clots (Figures -). The patient underwent a subsequent embolization by interventional radiology of the short gastric and left gastric arteries. Over the next 72 hours, he continued to have persistent, severe bleeding requiring transfusion of 8 units of packed red blood cells (PRBCs). Emergent explorative laparotomy was done and revealed a large 9 x 9 x 7 cm ulcerating mass extending through the mucosa of the stomach with invasion into the surrounding soft tissues. The mass involved the adipose tissue around the stomach, the splenic, and pancreatic parenchyma and surrounded the splenic vein. A 4 cm liver mass in the right lobe was also noted. En-bloc resection of the greater curvature of the stomach, spleen, and distal pancreas was done with successful control of the bleeding. Histopathologic evaluation of the surgical sample demonstrated a high-grade (anaplastic plasma cell) plasmacytic neoplasm (cd138+, cd79a+, mum1+, negative for CD45, CD20, CD56, CD43, PAX5, BLC2, Eber, and HHV-8) involving the greater curvature of the stomach, distal pancreas, and spleen (Figure ). Ki-67 demonstrated 30% nuclear staining.
The patient remained symptom-free with no evidence of GI bleeding after the surgery. He was discharged from the hospital at postoperative day 9 for follow-up with his oncologist. He was started on high-dose chemotherapy with plans for a subsequent bone marrow transplant (BMT). |
pmc-6443533-1 | A previously healthy, 59-year-old female was referred from Urgent Care for respiratory distress and dry cough for one week during the spring season. Outpatient chest radiographic findings were suspicious for basilar pneumonia. She admitted to a strong smoking history. She denied fever, chills, chest pain, orthopnea, sick contacts, and recent travel. Her oxygen saturation on room air was 95%, but she appeared diaphoretic and tremulous. Bilateral basilar crackles that were more prominent on the left, with mild expiratory wheezing, were heard on auscultation. Initial chest X-ray showed a small left basilar airspace opacity (Table ). Initial blood work was within normal limits (Table ). She was given high-dose intravenous (IV) steroids and vancomycin, levofloxacin, and piperacillin-tazobactam, and admitted for presumptive community-acquired pneumonia. In just over 24 hours of admission, she was found to be in increasing respiratory compromise. Arterial blood gas parameters were pH 7.44, pCO2 37 mmHg, pO2 63 mmHg, HCO3 25 mmol/L, and FiO2 28. Oxygen saturation dropped to 88% on 2 liters per minute via the nasal cannula. Repeat chest X-ray showed diffuse multifocal airspace opacities and the lower extremity venous duplex was negative for venous thrombosis (Figures -). The patient was upgraded to the intensive care unit (ICU). The polymerase chain reaction (PCR) of the nasopharyngeal aspirate confirmed human rhinovirus (hRV). Methicillin-resistant Staphylococcus aureus (MRSA) nasopharyngeal swab, urine Legionella antigen, and sputum culture were negative. High-dose intravenous steroids were started as adjuvant therapy due to the rapid decline, presumably due to a dysregulated host immune response. Echocardiography showed a normal ejection fraction at 67%, with normal systolic and diastolic function. She was never intubated, but she was stabilized on high-flow nasal cannula oxygen therapy. She had completed a 10-day course of Levofloxacin. On discharge, repeat chest X-ray showed interval improvement in airspace opacities (Figure ). After 10 days in the ICU, she was discharged with tiotropium and steroid taper. |
pmc-6443538-1 | This case report involves a 62-year-old male with a prior history of epidural abscess and L1-L2 osteodiscitis, who was admitted to the ward because of progressively worsening low back pain. About four months prior (Figures , ), the patient was treated via peripherally inserted central catheter (PICC) intravenous (IV) nafcillin (six week course) for methicillin-susceptible Staphylococcus aureus (MSSA) associated discitis in the L1/L2 vertebral region confirmed with CT guided aspiration. The patient reported doing well but two days prior to presentation, he started having severe low back pain again, along with subjective chills and fever. Magnetic resonance imaging (MRI) of the spine was ordered but the MRI study was limited due to the inability of the patient to tolerate being in supine position. The imaging that was obtained did show progression of loss of the L1-L2 vertebral bodies suspicious for osteomyelitis (Figures , ). With a temperature of 100°F, elevated CRP > 9 mg/dL and lactic acidosis 2.8 mmol/L, vancomycin 1.25 gm IV and ceftriaxone 2 gm IV were given empirically for severe sepsis on admission (Day 0). The next day (Day 1), the Infectious Disease department was consulted and they recommended vancomycin 1.5 gm Q12H IV and cefepime 2 gm Q12H IV. However, the CBC labs showed pattern concerning for pancytopenia with WBC decreased to 2.5 thou/mm3, Hgb to 6.2 g/dL, Hct to 20.8%, and platelets to 82 thou/mm3 (Table ). Although the patient was given IV NS fluids overnight, the degree and pattern of reduction was not consistent with hemodilution. Repeat CBC labs confirmed these values. Incidentally, on admission, his prothrombin time (PT) and international normalized ratio (INR) were elevated to 19.5 seconds and 1.72, respectively, but the patient stated that he consumes red yeast rice extract for cholesterol control, which also has anti-clotting properties. Lactate dehydrogenase (LDH) obtained on Day 1 was elevated to 929 unit/L and the total bilirubin on admission was 0.8 mg/dL.
Due to the patient's acute anemia on Day 2, a decision was made to transfuse two units of packed RBCs, which mildly improved the patient's Day 3 labs to WBC 5.7 thou/mm3, Hgb 6.9 g/dL, Hct 22%, and Plt 90 thou/mm3 (Table ) with a D-Dimer of 741 ng/mL (Table ). To evaluate for disseminated intravascular coagulation (DIC), fibrinogen and fibrin split products (FSP) were ordered on Day 2, but unfortunately, those labs were collected post transfusion. Nevertheless, fibrinogen was 544 mg/dL and FSP was 10-40 mcg/dL and the peripheral smear from Day 2 did not show schistocytes (Table ). The Infectious Disease department recommended discontinuation of vancomycin and cefepime and resuming nafcillin 12 gm Q24H IV which the patient tolerated during prior admission. The patient received another transfusion on Day 3, which improved Day 4 labs of Hgb to 7.6 g/dL and Plt to 98 thou/mm3. Lactic acid decreased to 0.9 mmol/L; however, the patient continued to have fever spikes of temperature 101.6°F. On Day 3, his reticulocyte count was 0.4 (absolute 0.2), the reticulocyte index was 0.12 and haptoglobin was elevated to 315 mg/dL. The Hematology department was consulted and they ordered serum protein electrophoresis (SPEP), vitB12 and folate (both within normal limits). The SPEP result was obtained several days later, which yielded a kappa/lambda light chain ratio of 0.78 (WNL) and monoclonal immunoglobulin not detected by immune-fixation (Table ). By Day 7 of monotherapy with nafcillin, CBC continued to improve with WBC of 6.9 thou/mm3, Hgb 7.5 g/dL, Hct 23.6%, and Plt 147 thou/mm3 (Table ). The blood cultures from admission were positive for MSSA staph and through interventional radiology guided spinal abscess aspiration, microbiology studies yielded a pan-sensitive staph organism. By Day 8, the patient had no fever spikes, but an esophagogastroduodenoscopy (EGD) was performed to rule out a gastrointestinal bleeding source since his fecal occult blood test was positive and due to the acute anemia soon after admission. EGD identified a chronic 2 cm duodenal ulcer, which was ablated, and colonoscopy was WNL. Due to the persistent bacteremia, transesophageal echocardiography (TEE) was also done, which ruled out valvular vegetation as a source for the MSSA bacteremia. |
pmc-6443639-1 | A 21-year-old male inmate presented to our facility with generalized weakness, abdominal pain, nausea, and right eye pain with associated inflammation and blindness. The patient reported that, 3 days prior to arrival, he was involved in an altercation where he was struck in the face and had feces smeared over the right side of his face. Past medical history was significant for type 1 diabetes mellitus and methamphetamine abuse.
On admission, the patient was in acute distress due to lack of vision in his right eye. The patient's clinical examination was consistent with orbital apex syndrome with injury and inflammation in the cavernous sinus. The right eye had a fixed, non-reactive pupil and exhibited ophthalmoplegia, scleral injection, periorbital edema, and erythema. Remaining physical and neurological examination were normal.
On admission, his glucose was 437 mg/dL, Hb A1c was 14.5%, ß-hydroxybutryate/acetoacetate ratio was 9.00, HCO3: 5 meQ/L, WBC 21.7, Urinalysis: 4+ ketones, 4+ glucose, and urine drug screen (UDS) was negative.
The patient was admitted to the intensive care unit (ICU) under our institution's diabetic ketoacidosis (DKA) protocol where he remained for 48 h. Ophthalmology was consulted for his right orbital cellulitis and ophthalmoplegia and Oral and Maxillofacial Surgery (OMFS) was consulted for reducing his nasal fracture. Soft tissue cultures were taken of the region. No interventions were recommended at the time by either service except for intravenous antibiotics. There was no suspicion for fungal infection on their respective evaluations. After resolution of DKA, he was transferred to the general floor. During this time, he experienced no changes in neurological exam or in his ocular exam.
Less than 24 h after transfer, the patient developed sudden-onset left facial droop, gaze preference to the right and left-sided hemiplegia. Immediate CT of the head revealed no obvious acute abnormalities (); however, CTA head demonstrated occlusion of the cavernous segment of the RICA. The patient was immediately evaluated by the on-call vascular neurologist where he was diagnosed with an acute ischemic stroke with LVO of RICA and right MCA syndrome. Subsequently, the patient was administered IV-tPA per our institution's stroke protocol. The patient did not improve in his symptoms after completion of IV-tPA. Neurointerventional surgery was consulted for possible mechanical thrombectomy and the patient was immediately taken for a cerebral angiogram, confirming complete occlusion of the RICA. Utilizing standard thrombectomy techniques, a TICI III (Thrombolysis in Cerebral Infarction) revascularization was achieved () using a retrievable stent system. Direct evaluation of the embolus did not seem consistent with a standard thrombus as it had a fibrous appearance with minimal blood product. Given this finding, the specimen was sent for pathology and culture.
The patient recovered in the ICU after the procedure. Post-procedural MRI demonstrated diffusion restriction over the right basal ganglia, middle and inferior frontal lobes, and anterior temporal lobe (). Final pathology and culture were positive for fungal hyphae consistent with RCM (). Additional blood cultures were positive for multi-drug resistant Klebsiella pneumoniae. Once the diagnosis was confirmed, the patient was started on micafungin, amphotericin B, and meropenem. He then underwent urgent ethmoidectomy and maxillary antrostomy with OMFS followed by right orbital exenteration with ophthalmology. He completed an 8-week course of IV micafungin, amphotericin B, and meropenem per infectious disease recommendations. The patient was transitioned to oral posaconazole for an additional 3 months. The patient recovered to a Modified Rankin Scale of 2 at 90 days with the aid of acute rehabilitation. |
pmc-6444067-1 | A 54-year-old Caucasian female proceeded to our institution with epigastric pain, nausea and vomiting along with pain located around the lumbar area lasting for one week. No previous surgical history or commorbidities existed. Clinical examination did not reveal any palpable abdominal masses or abdominal tenderness and the patient’s vital signs were within the normal spectrum. Blood test detected hypercalcemia (serum calcium: 10.2 mg/dL) and parathyroid hormone level of 111.8 pg/mL. All the findings in conjunction with the clinical presentation lead to the assumption that the patient had primary hyperparathyroidism (PHPT).
Then, an ultrasound was performed but it was negative for any thyroid or parathyroid abnormalities. Subsequently, the thoracic and abdominal CT revealed a soft tissue in the anterior mediastinum 7 × 1 cm. Additional Tc-99m-MIBI scintigraphy followed, which detected an ectopic adenoma located in the lower anterior mediastinum, on the left of the median line (). Following these, a mid-sternal thoracotomy was finally scheduled.
During the operation, after the thoracotomy, surgeons attempted to detect deep into the mediastinum the parathyroid adenoma according to the preoparative localization. Indeed, the mediastinal mass was detected on the left of the median line, at the anterior mediastinum, in front of the anterior surface of the pericardium and close to the left pericardiophrenic vessels and the left phrenic nerve (). The adenoma was covered by a thin fibrous capsule. When surgeons removed the capsule, a dark red mass of 7 × 2.8 × 1 cm was finally revealed (). The detailful preoperative localization of the present mediastinal adenoma which was in close relation with various anatomical structures of the thorax, reduced effectively the difficulty of the mass excision and the potentiality of accidental surgical injuries which may lead to thoracic bleeding and subsequent obstructive symptoms.
Then, the operation continued in the usual fashion and a drainage was placed into the left side of the thoracic cavity. The patient was discharged the 5th postoperative day with instructions, when the drainage was finally removed.
Histology of the mass confirmed the diagnosis of ectopic parathyroid adenoma that was composed predominantly of oxyphil cells arranged in an acinar pattern. Serum calcium level was 2.60 mmol/L and iPTH 17.6 pg/mL 12 h after the operation. Serum calcium and iPTH remained normal after 6 months’ follow-up. |
pmc-6444225-1 | A 70-year-old male with history of angina, 3-vessel CAD (coronary artery disease), TIA (transient ischemic attack), hyperlipidemia, and gastric bypass presented for an elective CABG. The patient had no family history of MH. He had no problems with general anesthesia with sevoflurane or desflurane previously. Prior to this surgery, he was enrolled in Geisinger MyCode program, which is part of a public health and research initiative at our institution that offers whole exome genetic screening for all participants [, ]. It was through this program that a genetic variant in RYR1 gene (c.1840 C>T p.Arg614Cys) was incidentally identified. There are currently more than 400 genetic variants identified in RYR1 with 48 known to cause MH according the European Malignant Hyperthermia Group (; accessed December 26, 2018). The variant in this patient happened to be one of those 48 pathogenic mutations. We decided to proceed as a MH positive case although this patient had neither clinical nor family history of MH. The anesthesia workstation was prepared with a new circuit, CO2 absorbent, charcoal filters, and removal of the vaporizers. The perfusionist was reminded that this patient should be treated as MH positive and no volatile anesthetics should be added to the circuit when CPB was needed. The patient was induced with nondepolarizing NMB rocuronium. A balanced anesthetic was maintained with fentanyl, midazolam, and infusion of propofol. A BIS (bispectral index) monitor was applied throughout the surgery to monitor the depth of anesthesia. The case was originally scheduled for off-pump but the LIMA (left internal mammary artery) graft was torn during repositioning of the heart and urgent CPB was initiated. Anesthesia was maintained with midazolam and fentanyl during CBP. The patient had moderate microvascular coagulopathy after CPB with a normal ACT (activated clotting time) which was treated with platelets and cryoprecipitate. The patient's MH susceptibility and its clinical relevance were discussed with the ICU (intensive care unit) team during postoperative handoff. Additionally, this patient's MH susceptibility was discussed with the on-call anesthesiologist in case an emergent operation was necessary overnight. The patient was extubated postoperatively with an uncomplicated postoperative course. He had no recall of the surgery. |
pmc-6444229-1 | A 30-year-old woman was referred by a local optometrist to the Emergency Eye Clinic at the Ivey Eye Institute with a ten-week history of left eye foreign-body sensation, pain, and photophobia. There was no recent traumatic event that she could recall. She was placed on seven-day course of prednisolone drops with resolution of her symptoms for approximately four weeks. However, her symptoms recurred and she was again treated with another short course of mild steroid drops with minor alleviation of her symptoms. Two days after this, her symptoms returned and, thus, she was referred to ophthalmology for a concern of a chronic foreign body of the left cornea.
On examination, her vision was 20/20 bilaterally with intraocular pressures of 17 and 14 mmHg in the right and left eyes, respectively. Slit-lamp exam of the left eye revealed a vertical, black foreign body resembling a human hair within the cornea () with surrounding stromal haze and punctate epithelial erosions. The foreign body was obliquely embedded within the cornea, with the superior aspect displaced more anteriorly just below the epithelium and the posterior aspect within the anterior third of the corneal stroma. The anterior chamber demonstrated moderate inflammation and the remainder of her examination was unremarkable.
Upon further questioning, the patient endorsed a lone incident of a corneal abrasion of the left eye roughly four to five years ago secondary to the edge of a price-tag attached to a pair of sunglasses that she had tried on. She had not experienced any ocular symptoms until her presentation eight weeks prior to her referral to our service.
The patient was taken to the procedure room where the hair was removed () under local anesthetic using jeweler's forceps, a microblade, and a 30-gauge needle under sterile technique. The remaining edge of loose epithelium was debrided from the wound, a bandage contact lens was placed on the cornea, and the patient was prescribed moxifloxacin drops four times per day for one week. Seven days following removal, the patient had a visual acuity of 20/20 with complete resolution of her anterior chamber inflammation and ocular symptoms. |
pmc-6444230-1 | A 74-year-old female with history of hypertension and hyperlipidemia presented with a postprandial, nonradiating epigastric abdominal pain for several days. The pain came intermittently and lasted for hours at a time with spontaneous resolution. She denied fevers or chills but did endorse nausea and emesis. Her surgical history included a remote history of appendectomy decades ago and cholecystectomy 14 years ago. Patient is a never-smoker and denied drinking alcohol.
On presentation, she had scleral icterus with maximum total bilirubin of 3.9 mg/dL (reference range 0.1-1.4 mg/dL), alkaline phosphatase of 218 IU/L (reference range 30-140 IU/L), and aspartate aminotransferase (AST) and alanine aminotransferase (ALT) of 410 IU/L and 225 IU/L (reference range 7-40 IU/L and 10-65 IU/L). She had normal lipase of 23 U/L (reference range 10-51 U/L) and amylase of 60 U/L (reference range 25-115 U/L). White blood cells were also within normal limits at 6.4 x109/L (reference range 4.0 – 10.8 x109/L)
She was initially started on ampicillin-sulbactam. Computed tomography (CT) of abdomen and pelvis with contrast read “marked intra- and extrahepatic biliary dilatation down to the level of the ampulla. Radiopaque foreign bodies are seen within the duodenum adjacent to the ampulla which could be obstructing.” Liver and pancreas were both normal appearing with no masses. Gastroenterology service was consulted who recommended magnetic resonance cholangiopancreatography (MRCP) given lab findings suggestive of biliary obstruction, concerning for a stone or stricture. MRCP read that “there are 2 linear metallic (and less likely calcific) densities within the duodenum at the ampulla of Vater. These appear to represent metallic surgical clips rather than stones. Unfortunately, there is magnetic susceptibility artifact off of these obscuring adjacent structures, including the distal common bile duct. There is dilatation of the more proximal common bile duct measuring approximately 12 mm. There is mild-moderate intrahepatic ductal dilatation.” Figures and show images from the CT surgical clips from cholecystectomy by the cystic duct () as well as common bile duct dilation with a hyperdense foreign body by the ampulla of Vater, most likely a migrated surgical clip (). Endoscopic retrograde cholangiopancreatography (ERCP) was then performed, which located the surgical clip that migrated distally (). The clip with a stone attached was then removed via balloon sweep (), resulting in subsequent resolution of abdominal pain and normalization of the liver function tests. |
pmc-6444234-1 | A 55-year-old male with a past medical history of hypertension reports exertional dyspnea for 8 months and nonexertional chest pain for 5 days. Physical exam revealed an afebrile patient; BP of 133/82 mmHg; heart auscultation revealed a new 3/6 systolic murmur, maximal at the apex radiating to the axilla; no leg swelling; and no jugular vein distention. The lungs were clear to auscultation. Pertinent labs were a negative Troponin and BNP. CT angiography and cardiac catheterization were negative. Increased MR with exercise was noted. TTE revealed a moderate to severe posteriorly directed MR which was said to be functional in origin (Carpentier classification III). Ejection fraction (EF) was 45%. TEE showed a structure attached to the atrial surface of the anterior (A2, A3 component) leaflet of the mitral valve (), most consistent with a left atrial fibrous band. The distal portion of the band was attached to the interatrial septum in close relation to the aortic valve. The band appeared to restrict the motion of the A2, A3 component with consequent MR, giving it a tented appearance, while 3D live imaging allowed for complete visualization of the band attaching to the mitral valve ().
Given his poor exercise tolerance, the patient was taken for mitral valve annuloplasty. Intraoperative findings included mitral valve prolapse (MVP), thickened fibrous mitral valve, and MR (). The pathology of the fibrous band showed a cardiac valve/vascular wall-like tissue with focal degenerative changes. Three months after the repair, patient's symptoms improved significantly with good exercise tolerance. There were no audible murmurs. ECHO showed no mitral regurgitation about 3 months after mitral annuloplasty, with an EF of 49% (). |
pmc-6444242-1 | The patient is a 34-year-old Caucasian female at 34 weeks and 1 day of gestation who presented to triage with complaint of abdominal pain. The pain was acute with onset two hours prior to triage visit. Pain was mainly localized to epigastrium and left upper quadrant associated with nausea, exacerbated by movement.
Physical exam revealed abdominal tenderness mainly in the epigastric area without peritoneal signs of rebound or guarding. Abdomen was also distended. The patient suddenly became lethargic, hypotensive, and tachycardic; fetal heart tones revealed heart rate in 40s range.
An emergent exploratory laparotomy with cesarean delivery under general anesthesia was performed for indication of nonreassuring fetal heart tones and suspected hemorrhagic shock. The massive transfusion protocol was activated as per hospital protocol, and the acute care surgery was immediately consulted. Upon entering the peritoneal cavity 800 cc of blood was encountered. The fetus was delivered via low transverse hysterotomy, the abdomen was then packed. Upon further exploration of the abdomen by surgical team, splenic artery aneurysm rupture was diagnosed () and patient underwent a splenectomy and partial pancreatectomy. The patient was admitted to ICU post-op and was discharged in stable condition on postoperative day 6. The fetus was admitted to NICU secondary to respiratory distress and low Apgar scores and was discharged home on 10 days of age. |
pmc-6444252-1 | A 74-year-old male patient was admitted to our institution with a one-month left-sided testicular pain and occasional dry cough, unquantified fever, asthenia, adynamia, and decreased appetite in the last four days. His history included insulin-requiring type 2 diabetes mellitus, arterial hypertension, stage 3 chronic renal disease, and chronic obstructive pulmonary disease. On physical examination, the patient was febrile and tachycardic and had left testicular edema with pain on epididymal palpation. An initial evaluation consisted of laboratory tests that showed neutrophilic leukocytosis (WBC 24.2 x103/uL, neutrophils 87%). Chest X-ray evidenced thickening of the bronchial walls with no concomitant parenchymal abnormalities () and urinalysis showed an increase in white blood cells and few Gram-negative bacteria. The testicular ultrasound showed an abscess in the tail of the left epididymis (); oral doxycycline therapy was administrated.
On the fourth day, the patient developed clinical deterioration with worsening of respiratory symptoms and inadequate metabolic control (HbA1c 8.7% and central glycemia 510 mg/dL) requiring transfer to the intermediate-care unit for management of hyperosmolar hyperglycemic state. The computerized tomography (CT) of the abdomen and pelvis was normal but a follow-up chest X-ray evidenced multiple bilateral nodular lesions and left pleural effusion () and positive blood and urine cultures yielding K. pneumoniae sensitive to penicillin, quinolone, and carbapenem. The CT of the chest confirmed the presence of multiple bilateral nodules with halo sign and reversed halo sign (). Presence of an extrapulmonary infective focus along with respiratory symptoms, isolation of bacteria in blood, and multiple bilateral nodules in the chest CT scan led to considering the diagnosis of SPE secondary to epididymitis. Therefore, it was decided to suspend the doxycycline and start intravenous ciprofloxacin. Clinical evolution after a 14-day antibiotic course was satisfactory with an improvement of the respiratory symptoms and marked decrease in pain and testicular edema, the chest X-ray at day 14th showed a disappearance of the consolidations, and the testicular ultrasound of follow-up at day 16th showed a decrease in local inflammatory signs and resolution of the abscess in the tail of the epididymis (). |
pmc-6444259-1 | A 58-year-old female patient presented with one episode of rounded mass protruded from anus during defecation and reduced manually by herself. She was previously healthy person and had normal bowel motion. She had no history of abdominal pain or mass, bleeding per rectum, and weight loss. There was no family history of colonic polyps or colon cancer. On physical examination, there was no significant anemia, no palpable abdominal mass nor tenderness. Stool examination was positive for occult blood. Her hemoglobin was mildly reduced 11.6 gm/dl with hypochromic microcystic type of anemia and a serum carcinoembryonic antigen level (0.32 ng/ml) was normal. Other laboratory tests like blood sugar, renal profiles, and liver profiles were within normal ranges.
A full colonoscopy was performed. A large polyp about 8 cm with rather smooth surface but highly vascular was found at the sigmoid colon, 14 cm from anal verge. The mass was occupied two third circumference of whole colonic lumen (). The origin of the polyp or stalk was difficult to identify. CT abdomen was done before sent for surgery. The finding was a circumferential well defined arterial contrast enhancing bowel mass measurement of 8.1 cm length arising from the distal part of the descending colon. Entrapped fat attenuations were seen inside the colonic lumen. No mesenteric adenopathy was seen. CT diagnosis was fat containing mesenchymal tumor (GISTS) of descending colon (). Patient was planned for surgical resection without biopsy because of risk of hemorrhage.
In laparotomy, a large polypoid lesion about 8 x 3 cm with short stalk was found in sigmoid colon. The serosal surface appeared normal and no adjacent intra-abdominal lymph nodes were enlarged. Affected portion of sigmoid colon was resected and sent for histology examination (). No renal mass was seen grossly during operation. |
pmc-6444268-1 | A 31-year-old male presented to an outpatient otolaryngology clinic reporting nasal obstruction, rhinorrhoea, and postnasal drip over a period of nine to twelve months. As a fly-in, fly-out worker in regional Australia, he travelled to work on an aeroplane every two weeks. He described severe right-sided facial and mastoid tip pain on flying and associated intermittent hearing loss and tinnitus aggravated by these trips. Examination revealed a dull and immobile right tympanic membrane with the remainder of the examination being unremarkable.
Further investigation with a computerised tomography scan of the temporal bones was delayed by the patient's work schedule and performed only a month later. Imaging of the right temporal bone demonstrated partial opacification of air cells in the well-pneumatised mastoid process with a multiloculate 26 × 24 × 23 mm air-containing pneumocele centred at the inferomedial margin of the mastoid process. The air was extending via the dehiscent sigmoid venous plate into the groove of the sigmoid venous sinus and inferomedially through a 6 mm defect at the junction of the mastoid process and periphery of the squamous portion of the occipital bone into a subtemporal position. Extending superiorly from this pneumatocele, a very large ovoid extradural air collection was present, measuring 88 × 88 × 40 mm which appeared longstanding. This pneumatocele was also associated with irregular scalloping of the inner table of the skull vault and superior septa, several of which were calcified. There was no air in the carotid canal, jugular bulb, or carotid sheath. The middle ear was clear, the tegmen was intact, and the bony labyrinth was normal. Imaging of the brain showed marked compression of the posterior aspect of the right cerebral hemisphere, principally the parietal lobe. There was subfalcine herniation with deviation of the ventricular midline to the left and mild dilatation of the temporal horns of the lateral ventricles (Figures –).
The patient was directed to the nearest tertiary hospital for otolaryngological and neurosurgical review. The patients' symptoms were unchanged from the initial presentation. On examination, the right tympanic membrane was bulging. No neurological deficits were evident but there was prominent subcutaneous emphysema noted overlying the right mastoid tip.
After appropriate discussion and consent, the patient underwent a tympanostomy tube insertion under local anaesthetic in order to avoid theoretically exacerbating the pneumatocele on anaesthetic induction and positive pressure ventilation. Interestingly, during the tympanostomy tube placement, the patient reported right-sided head pain. General anaesthesia was induced, and the mastoid portion of the surgery was performed. A mastoid cortical bone flap was raised and a mastoidectomy was performed, with identification of the tegmen, sigmoid sinus, lateral and superior semicircular canals, and antrum. The facial nerve was not exposed in the mastoid segment. The mastoid was found to be hyperpneumatised and a fistula was identified from the mastoid air cells to the extradural space at the sinodural angle, with air bubbling noted. There was dehiscence of the posterior fossa dural plate with chronic mucosal disease present adjacent to the dehiscent dura, suggestive of a chronic disease process. However, cerebrospinal fluid was not encountered. The aditus was obliterated with bone wax, and all air cells were obliterated with fat harvested from the left iliac fossa. Closure was performed with fibrin sealant and fascia, the mastoid cortical bone flap was replaced, and the soft tissues were closed in layers. A routine mastoidectomy head bandage was applied.
The patient had an uncomplicated postoperative course and was discharged on postoperative day five. Serial computerised tomography scans at 2 weeks and 4 weeks postoperatively showed stepwise resolution of a small collection in the surgical bed with a reducing mass effect and resolution of the midline shift. At 4 weeks, no pneumocephalus was identified. Encephalomalacia in the posterior right temporal lobe and ex vacuo phenomenon in the occipital horn of the right ventricle were evident. The patient's otological and pain symptoms subsequently resolved. Symptoms and signs of chronic rhinosinusitis were present, and medical management was commenced. The patient subsequently flew to work three months postoperatively. |
pmc-6444432-1 | An 84-year-old woman underwent total hysterectomy, bilateral salpingo-oophorectomy, and omentectomy 18 years ago because of right ovarian fibrothecoma. After surgery, she was followed up regularly. During follow-up, she presented no androgenic or estrogenic manifestations. She was found to have a pelvic tumor that was suspected to be recurrence of fibrothecoma. Her pelvic tumor was located in the mesentery of the distal ileum. She underwent ileocecal resection to remove the mesenteric tumor. She received no additional therapy. She had an uneventful postoperative course and no recurrence for 1 year after surgery.
We re-evaluated the right ovarian tumor collected 18 years ago. The right ovarian tumor was a yellowish white solid tumor the size of an adult head. Fourteen tissue sections were prepared from the right ovarian tumor. Microscopically, theca cell-like cells and collagen-producing fibroblasts were observed in all tissue specimens (Fig. a–c). No SLCT component was observed in any of the tissue specimens. We diagnosed the patient with fibrothecoma as a result of re-evaluation.
Macroscopically, the mesenteric tumor was nodular and well circumscribed, measuring 75 × 65 × 50 mm (Fig. a, b). The cut surface was yellow (Fig. c). The tumor did not invade into the ileal wall. Microscopically, duct-like structures, which consisted of Sertoli cell-like tall columnar cells, were observed in the diffuse growth of scant cytoplasmic ovoid cells (Fig. a, b). Additionally, nests of Leydig cell-like cuboidal cells with eosinophilic cytoplasm were observed (Fig. c). The mitotic rate of the tumor was 2 per 10 high-power fields (Fig. d). No heterologous elements were observed.
An automatic staining machine (DAKO Envision+ system; DakoCytomation, Glostrup, Denmark) was used for the immunohistochemical procedure. The antibodies used in this study are shown in Table . Positive immunohistochemical expression of steroidogenic factor-1 (SF-1; Fig. a), inhibin-α (Fig. b), cluster of differentiation 56 (CD 56; Fig. c), Wilms tumor 1 (WT-1; Fig. d), AE1/AE3, and vimentin was found in Sertoli cell-like tall columnar cells. Inhibin-α and vimentin were expressed in Leydig cell-like cuboidal cells. Positive expression of SF-1, inhibin-α, CD56, and vimentin was found in ovoid cells.
Finally, we examined hotspot mutations in exons 24 and 25 encoding the DICER1 ribonuclease IIIb domain using a direct sequencing method. Before DNA extraction, neoplastic cells accounted for at least 50% of the tissue cell population. DNA was extracted from formalin-fixed, paraffin-embedded tissues. No DICER1 hotspot mutation was detected in this tumor tissue.
We therefore diagnosed the patient with primary mesenteric moderately differentiated SLCT without DICER1 hotspot mutation. |
pmc-6444516-1 | A 39-year-old woman was admitted complaining of sudden-onset headache, nausea, and vomiting for 1 day. She had a history of hypertension for 10 years and denied any history of diabetes, hyperlipidemia, autoimmune diseases, or other remarkable illnesses. She was alert and could correctly obey commands. Physical examination was unremarkable except for neck stiffness. Her blood glucose, electrolytes, blood cell counts, coagulation test, and antinuclear antibody series were within normal limits during laboratory investigations.
Head computed tomography (CT) showed a subarachnoid hemorrhage (SAH) concentrated in the perimesencephalic cistern (Fig. a). CT angiography (CTA) showed that the bilateral ICAs were absent in the skull base (Fig. b-c). The bilateral MCAs and anterior arteries were normal. An aneurysm was identified in the PCA region (Fig. d).
Head digital subtraction angiography (DSA) showed that the bilateral internal maxillary arteries and ascending pharyngeal arteries were confluent with the cavernous portion of the ICAs at the skull base. And the bilateral ICAs above the cavernous portion of the ICAs, the MCAs, and the anterior cerebral arteries were normal (Fig. ). The right vertebral artery (VA) was fine, while the left VA was well developed (Fig. a-b). Moyamoya-pattern collateral vessels could be seen in the bilateral PCAs region, the distal part of the PCA was composed of abnormally fine vessels, and an aneurysm was clearly identified in the left moyamoya-pattern collateral vessels (Fig. c-d).
She was diagnosed as bilateral carotid RM, moyamoya-like vessels in the PCA region, intracranial pseudoaneurysm, and SAH. Management of the aneurysm was difficult, and wait and see management was adopted. The patient experienced an uneventful recovery and was discharged 1 week later. Follow-up CT performed 44 days later showed complete resolution of the SAH (Fig. a-b). Head DSA revealed that the pseudoaneurysm disappeared spontaneously while the moyamoya-pattern collateral vessels were unchanged, the distal part of the PCAs became finer and smaller, and the transdural compensation of the posterior meningeal artery was visible (Fig. c-d). The patient was in good condition during follow-up, she returned to her normal activities. |
pmc-6444668-1 | A 10-year-old girl was admitted to our clinic due to ketoacidosis associated with newly diagnosed type 1 diabetes. Prior to admission, she had suffered from polyuria, polydipsia, and nycturia for about 2 weeks, and presented with fatigue, drowsiness and a lack of appetite for the last two days. Her history did not include any chronic diseases, and she had normal growth and development.
On admission, she was in a serious state, suffering from vomiting and dehydration, and displaying Kussmaul breathing, a respiratory rate of 45 breaths/min and tachycardia. The blood test revealed a blood glucose level of 26.8 mmol/L (482 mg/dl), pH 6.902, base excess (BE) of − 29.3 mmol/L, HbA1c of 12.9%, sodium level of 142 mEq/L, potassium level of 4.11 mEq/L and ketone level of 6.1 mmol/L. The patient was treated according to the recommendations of the International Society of Pediatric and Adolescent Diabetes and the Polish Diabetes Association [, ].
Initially the patient received 500 ml of 0.9% NaCl IV infusion. Next, a continuous IV infusion of short acting insulin was commenced with 2,5 U/ h dose, taking into consideration that the patient weight was 40 kg. IV Insulin infusion was sustained for 51 h with dosages ranging from 1,5 U/h to 4 U/h. Overall the patient received 81,75 units of IV insulin during the first 24 h of treatment. Moreover, potassium was supplemented intravenously accordingly to changes in electrolytes results. Although she remained in a serious condition during the first 24 h of treatment, she stopped vomiting and showed gradual improvement in blood test results, with pH normalization and a decrease in the level of ketones. The glucose level was maintained between 8.3 and 13.9 mmol/L (150–250 mg/dl) with intravenous insulin and glucose infusions. The neurological status was checked hourly, and was reported as stable. An ECG was performed within the first few hours of admission, which did not reveal any crucial abnormalities aside from tachycardia. The patient received 65 units of IV insulin during the second 24 h f treatment. During the whole continuous insulin infusion the patient fluid input was 7850 ml (4750 ml IV, 3100 ml orally) and diuresis was 3400 ml.
The patient’s overall condition improved during the second day of treatment, despite the fact that she was still receiving intravenous insulin. That day irregular heartbeats were noticed on auscultation during the physical examination and on the ECG monitor. A second ECG showed premature ventricular complexes (PVCs; also known as trigeminy) with LBBB (left bundle branch block) morphology and a normal axis (Fig. ). Continuous ECG monitoring was subsequently implemented, and the patient underwent a cardiac consultation. The echocardiogram showed no abnormalities in the structures of the heart and great vessels. The consultant cardiologist confirmed the diagnosis of ventricular arrhythmia (PVCs). The blood results revealed hypokalemia (nadir at 2.9 mmol/L) and hypophosphatemia (nadir at 0.45 mmol/L).
The ECG performed after the first recognition of the patient’s the irregular heart rhythm (Fig. ) showed: sinus rhythm at 100/min, normal cardiac axis, with premature ventricular complexes. Normal PQ interval (0,14 s), normal QRS duration (0,08 s), normal QT interval (0,31 s)and QTc 0,40 QTd 0,04 s. Normal T wave and repolarization. The biochemistry results at that moment were: Na 134 mmol/L Na 134 mmol/l [132–145]; K 3,56 mmol/l [4,1-5,3]; Ca 2,70 mmol/l [2,1-2,6]; Mg 0,83 mmol/l [0,53-1,11]; Phosphate 0,45 mmol/l [1,1-2,0] (assessed for the first time); pH 7,34 [7,35-7,45]; BE-11,5 mmol/l [− 2,0/+ 3,0]; HCO3 14,2 mmol/l [22,5-30,0]. CK level was not determined. The pattern visible in the ECG was not typical of hypokalemia, which is connected with initial T-wave decrease, followed by ST-segment depression, T-wave inversion, PR interval prolongation and increased P-wave amplitude, observed with further decreases in serum potassium levels. Severe hypokalemia may be associated with giant U-waves created by T- and U-wave fusion. Tachyarrhythmia and rarely atrioventricular block may evolve [–]. In our case we did not observe such abnormalities typical to low potassium level in the ECG. Moreover, the ECG was not typical of hypercalcaemia, which causes prolonged PQ interval and shortening of QT interval [, ]. Taking above into consideration we propose possible association between hypophosphatemia and premature ventricular complexes reported in the ECG.
Potassium was supplemented both orally and intravenously. Overall the patient received 123 mEq of potassium during the continuous insulin therapy. As far as phosphorus is concerned, the patient was fed with liquid dairy products that were rich in phosphate, as she was only able to swallow small amounts of non-solid foods due to odynophagia. She was also started on oral phosphate supplementation (phosphate mixture containing 17.8 g Na2HPO4 and 4.88 g NaH2PO4 in 100 ml of distilled water, containing 1.6 mmol of inorganic phosphate per 1 ml). As 1 mmol of inorganic phosphate weighs 31 mg, our patient was receiving 62 mg Pi/kg body weight every 24 h from the phosphate mixture. She continued to present an irregular heart rate, thus a 24-h ECG Holter monitor examination was performed. The results showed 38,000 monomorphic PVCs, 1615 occurrences of ventricular bigeminy, 1230 of ventricular trigeminy and 453 of ventricular quadrigeminy, which comprised 38% of all the heart electrical activity recorded.
The patient was started on intensive subcutaneous insulin regimen at the 3 day of treatment, after the biochemistry results improved. In the beginning she was receiving 15 units of ultra- long acting basal insulin and 27,5 units of rapid acting insulin for meals and correction doses.
The patient’s serum phosphate level normalized over the few next days of treatment (Table ), and ventricular arrhythmia ceased almost completely. Subsequent ECG Holter examination showed 1760 PVCs, 13 episodes of ventricular bigeminy and 79 episodes of ventricular trigeminy. Additionally, we noticed hypocalcaemia after 3 days of phosphate supplementation. Taking into consideration the patient’s severe vitamin D3 deficiency (25(OH)D3 level 9.83 ng/ml), we supplemented both calcium and vitamin D3.
Gradually the patient regained insulin sensivity and entered a partial remission phase. C- peptide level was 0,84 ng/ml.
The patient was discharged in an overall good condition receiving intensive functional insulin therapy. The regimen included 10 units of basal insulin administered once daily in the evening and rapid acting insulin with insulin: carbohydrate ratio set for each meal and also with recommended correction doses.
A cardiac check-up at the outpatient clinic following discharge revealed no signs of cardiac arrhythmia. The patient is currently on an insulin pump therapy regimen, and her growth and development are within the normal range. |
pmc-6444764-1 | A 55-year-old Caucasian female receiving chemotherapy for primary central nervous
system lymphoma was scratched by a dog on her right forearm. She cleaned the wound
with isopropanol and presented to the emergency department at a community hospital.
She was discharged on oral amoxicillin-clavulanate, which she took as prescribed.
Three days later, she was seen in oncology clinic for scheduled follow-up and was
noted to have erythema surrounding the scratch site. The wound contacted tap water
in the shower, but she denied other environmental exposures. Over the next 24 hours,
she developed a fever and increased erythema, edema, and tenderness around the
scratch site. She was subsequently admitted to our medical center.
Her history was significant for primary central nervous system lymphoma diagnosed 6
months prior. She completed consolidation chemotherapy 3 days prior to the dog
scratch; a right-sided chest port remained in place. She had no prior history of
immunocompromised state. She had no prior skin infections, significant trauma, or
surgeries to the affected arm. She smoked 1 pack daily for many years but quit
following her cancer diagnosis. The dog was up-to-date on vaccinations. Her
outpatient medications included prophylactic acyclovir, fluconazole, and
trimethoprim/sulfamethoxazole per standard chemotherapy protocol.
On admission to our medical center, she denied purulence, drainage, crepitus, or
significant pain at the scratch site. She denied chest pain, dyspnea, abdominal
pain, nausea, vomiting, diarrhea, or dysuria. She had a fever of 39.3°C and
tachycardia at 110 beats per minute. Her respiratory rate, blood pressure, and
oxygen saturation were within normal limits. She was awake, alert, and fully
oriented. Her cardiac, pulmonary, and abdominal examinations were unremarkable.
There was no erythema, purulence, or tenderness around her right-sided chest port. A
10-cm, well-circumscribed patch of erythema with a 1-cm central, darkly pigmented
crust was present on her right forearm. The erythema had expanded from its earlier
size denoted by an outline drawn 3 days earlier. The region was warm and mildly
tender. She had 2+ radial and brachial pulses bilaterally and 5/5 motor strength of
the bilateral upper extremities. No pain on flexion or extension of elbows, wrists,
or fingers. Sensation was unaffected throughout the right upper extremity. Her
laboratory findings were significant for undetectable white blood cell count.
Hemoglobin was 11.7 g/dL, hematocrit was 34.0%, and platelet count was 19
000/mm3.
Amoxicillin/clavulanate was discontinued, and vancomycin intravenous (IV) and
piperacillin/tazobactam IV were begun at admission. Cultures of blood from her chest
port and urine were found to grow Pseudomonas aeruginosa with
identical susceptibilities, including to piperacillin/tazobactam and cefepime.
Culture of blood taken at the same time from a peripheral site was negative, and all
subsequent blood cultures during hospitalization were negative. Despite the empiric
broad-spectrum antibiotic therapy, the cellulitis worsened. The borders of erythema
became more sharply demarcated by hospital day 5 (), and the patient experienced daily
fevers with maximum temperature of 39.2°C. Clindamycin IV was added for its
antitoxin effect on day 5. By hospital day 7, the erythematous patch became less
well-circumscribed (), and she developed increased pain and decreased strength (4/5) on flexion
of the right wrist and digits. Ultrasound of the right arm showed soft tissue edema.
Subsequent magnetic resonance imaging showed an elbow joint effusion and myositis
without pyomyositis or abscess (). Voriconazole IV was added on day 7 for empiric antifungal
coverage. The patient’s chest port was removed on day 8 of hospitalization and was
culture-negative.
On hospital day 10, the patient’s leukocyte count recovered to 3400/mm3
(neutrophils 2800/mm3, lymphocytes 400/mm3, monocytes
200/mm3) and a bulla developed adjacent to the site of the dog
scratch. Serous fluid from the bulla was drained using sterile technique and grew
Serratia marcescens on culture. Cefepime IV was initiated based
on susceptibility results, and piperacillin/tazobactam and voriconazole were
discontinued. She defervesced and experienced substantial improvement in the
cellulitis over 48 hours. The patient was discharged home after 15 days of
hospitalization on oral ciprofloxacin to complete a 14-day course of targeted
antibiotic therapy. She was advised to keep her arm elevated to promote drainage of
edema.
At follow-up, the patient continued to be afebrile after completing her antibiotic
course. She received wound care at a community hospital. The wound healed completely
within 2 months. |
pmc-6444866-1 | A 51-year-old woman with history of RAA in surveillance attended a cardiologist due to dyspnea and palpitation. The patient underwent a computer tomography (CT) evaluation which confirmed RAA with a common origin of both carotid arteries, a separate origin of the right subclavian artery, coarctation of the aorta with the diameter of 12 mm, an aortic aneurysm below the coarctation with the diameter of 60 mm and origin of the left subclavian artery right below the aortic aneurysm at the level of the 6th thoracic vertebra (Fig. a). The patient was admitted to our clinic and echocardiography revealed the left ventricle ejection fraction of 60%, without any other cardiac malformations. The diameter of the left common carotid artery was 5 mm. Coronary vessels angiography did not show any stenosis or other malformations. Because of the diameter of the aneurysm (as a new CT finding), surgery was recommended.
Partial cardiopulmonary bypass (CPB) via femoral vessels was established. Right posterolateral thoracotomy in the 4th intercostal space was done (Fig. ). Ventilation of the left lung was maintained by selective intubation. The thoracic aorta was X-clamped just above the aneurysm while another (distal) clamp was placed right below the aneurysm and also above the aberrant left subclavian artery. Thus, perfusion and oxygenation of the aortic arch branches were provided by the beating heart as well as by selective lung ventilation. Perfusion of the thoracic and abdominal aorta below the distal clamp was secured by a partial CPB (2 l/min) while the adequate perfusion was controlled and adjusted by comparison of arterial pressure on the both radial and left femoral arteries. The aortic coarctation and aortic aneurysm were resected and replaced with tubular prosthesis of 22 mm in diameter (Figs. d and ). The CPB time lasted 94 min in a mild hypothermia (34 degrees Celsius).
The postoperative course was uneventful. On the 8th postoperative day the patient was discharged (Fig. b). |
pmc-6445535-1 | A 52-year-old man received the first diagnosis of a monophasic fibrous synovial sarcoma of the left popliteal fossa in 2011, at the age of 45.
In the same year, he had the first surgical intervention, which consisted of the enucleation of a lesion on the thigh. Then, despite two subsequent cycles of chemotherapy (Ifosfamide and Epirubicin), the disease locally progressed, so the oncologists decided to perform preoperative radiotherapy and then a second, more radical surgical intervention the year later.
Until the end of 2014, the patient was stable, with no local or systemic recurrences.
He had to be treated again in 2015 and 2016 for local relapses with limb-sparing surgeries, including also a left femoro-popliteal bypass. After these operations, the disease distantly progressed with a pulmonary metastatic spread. Then, the patient was treated with four high-dose, neoadjuvant chemotherapy cycles (Ifosfamide), unfortunately without a complete response: the lung lesions decreased but did not completely disappear. So, in August 2017, the patient underwent microwave ablation of the four larger lung lesions in order to achieve control of the disease.
Moreover, on 2 October 2017, control magnetic resonance imaging (MRI) of the left leg and knee showed a new local relapse consisting of two pathologic nodules: one of 8 mm near the scar of the lateral calf of the gastrocnemius and one of 14 mm near the scar in the soleus muscle. Both nodules were also visible at ultrasound (US) examination ().
Lesion surgical excision was considered not feasible due to previous therapies, and the first proposed treatment option for this recurrence was leg amputation, which the patient refused. Thus, together with the patient’s oncologist and radiation oncologist, the interventional radiologist decided to attempt treatment with PLA under US-guidance in order to avoid a major amputation.
The patient agreed and gave informed consent to the treatment. |
pmc-6445561-1 | A 26-year-old Caucasian female with a past medical history of bilateral lung transplant for cystic fibrosis, end-stage renal disease on hemodialysis, pancreatic insufficiency, diabetes mellitus, hypothyroidism, hypertension, insomnia, seizures, and chronic pain presented with complaints of chest pain for one day along with a left lower extremity painful swelling that started four days prior to presentation. The chest pain was left-sided, sharp, non-radiating, with no aggravating or relieving factors. Her left lower extremity swelling extended from the hip down to her foot with tenderness most pronounced in the left thigh. Classic symptoms/signs of hypothyroidism such as lethargy, cold intolerance, myxedematous facies, constipation, and/or bradycardia were absent. Her daily home medications included tacrolimus, prednisone 5 mg daily, voriconazole 200 mg every 12 hours, azithromycin, amlodipine, pantoprazole, levothyroxine, pancrelipase (CREON), oxcarbazepine, amitriptyline, gabapentin, sevelamer carbonate, cetirizine, montelukast, and correctional sliding scale insulin.
Investigation
On examination she was in pain, cachectic, and in no acute respiratory distress. She weighed 46 kilograms (kg) with a BMI of 15.3. Her blood pressure was 171/101 mmHg, respiratory rate 18, heart rate 90, temperature 98 F, and oxygen saturation 96% on 2 liters (L) nasal cannula oxygen. She had temporal and masseter muscles wasting, with moist mucous membranes, with no oral thrush or ulcers. On pulmonary auscultation, there was diminished air entry bilaterally. Her abdominal and cardiovascular examinations were unremarkable. Her lower extremities both had pitting edema but it was worse on the left. There was marked tenderness of the posterior left thigh with mild left calf tenderness. She had intact pulses bilaterally with no skin discoloration or darkening of the toes.
Bilateral lower extremity Doppler and chest computed tomography with intravenous contrast pulmonary embolism (PE) protocol scan showed no deep venous thrombosis or PE. Troponin T was mildly elevated with no delta and no evidence of ischemia on the electrocardiogram (ECG). Her labs showed a normal creatinine phosphokinase (CPK) level of 27 U/L, mildly elevated serum aldolase of 8.7 U/L, thyroid-stimulating hormone (TSH) of 11.42 mIU/ml, C-reactive protein of 1.5 mg/dL, lactate dehydrogenase of 204 U/L, serum creatinine of 4.3 mg/dl, blood urea nitrogen of 44 mg/dl, 25 hydroxyvitamin D of 24 ng/ml, HbA1c of 5.1%, serum IgE level of less than 2 KU/L, tacrolimus serum level of 7.6 ng/ml, and white blood cell count of 3 k/uL. Serology was negative for anti-Sm and anti-RNP. A viral polymerase chain reaction (PCR) test for human immunodeficiency virus (HIV), herpes simplex virus (HSV), cytomegalovirus (CMV), Epstein-Barr (EBV) was negative. Her aspergillus galactomannan, serum histoplasma antigen, serum cryptococcal antigen were negative with positive beta-glucan. Radiograph of the left femur showed no skeletal abnormalities. With the persistence of her left leg pain, magnetic resonance imaging (MRI) without intravenous contrast was obtained to evaluate her soft tissue. MRI results demonstrated diffuse subcutaneous edema and edema in thigh musculature that was most pronounced within the hamstring muscles (red arrow). These findings were most consistent with myositis (Figure ).
Muscle biopsy was subsequently performed for further assessment and refining the myopathy subtype. It showed A) degenerating myofibers with macrophage infiltration (white arrow). This morphologic appearance typically favors a toxic/drug-induced myopathic process, B) arterioles appear somewhat thickened and hyalinized (black arrow) that warranted a Congo red stain, and the Congo Red stain was negative for amyloid (Figure ).
Treatment
Muscle biopsy was mostly consistent with drug-induced myositis. Upon reviewing her home medications for any potential causative agent, voriconazole was recognized as a possible inciting factor of her myositis. Her voriconazole was discontinued, and her prednisone dose was increased from 5 mg daily to 40 mg daily. She was slowly tapered by 5 mg every five days and continued on 10 mg after that to help with muscle swelling and inflammation. The patient experienced clinical improvement in terms of reduced left lower extremity swelling and resolution of pain and tenderness of the left thigh on her follow-up visit as an outpatient. Documentation of this adverse drug reaction was made in her chart for references. Of note, as her TSH was slightly elevated, free T4 was checked during the follow-up visit and was found to be 0.6 ng/dl. A higher dose of Synthroid was prescribed and three months later her TSH was 3.7 uIU/ml. |
pmc-6445562-1 | A 20-year-old Caucasian female was admitted with one month of cervical lymphadenopathy and two months of fever, fatigue, night sweats, and 15-pound weight loss. A course of antibiotics two weeks prior did not improve her symptoms. A week prior to admission, she developed an intermittent diffuse urticarial rash.
Medical history was significant for poorly controlled type II diabetes and chronic pain. She was allergic to sulfa drugs and latex. Family history was unknown. She denied travel, drug and alcohol use, and sexual activity.
On presentation, the patient was febrile to 38.6oC, with a heart rate of 135 beats per minute, respiratory rate of 18 breaths per minute, and blood pressure of 115/85 mmHg. Examination was remarkable for diffuse, rubbery lymphadenopathy (0.5 cm × 1 cm–3 cm × 3 cm). A faint erythematous, reticular rash was present on her legs.
Laboratory data demonstrated marked leukocytosis with eosinophilia. Inflammatory markers, uric acid, and lactate dehydrogenase were elevated (Table ).
Blood smear demonstrated reactive lymphocytes without circulating blasts. Flow cytometry did not show any abnormal lymphoid populations. Extensive infectious work up was negative, with the exception of Epstein-Barr virus (EBV) polymerase chain reaction (PCR) (Table ).
A computed tomography (CT) scan (Figure ) revealed marked lymphadenopathy and hepatosplenomegaly. Positron emission tomography (PET) imaging (Figure ) showed widespread hypermetabolic bulky lymphadenopathy and diffuse bone, spleen, and marrow uptake without osseous lesions.
Excisional lymph node biopsy of a submental node revealed necrotizing lymphadenitis characterized by immunoblasts, myeloperoxidase-positive histiocytes with crescent shaped nuclei, and extensive necrosis with karyorrhectic debris (Figure ).
There was no eosinophilic or neutrophilic infiltrate, or evidence of malignancy on biopsy or flow cytometry. Stains for acid-fast bacteria, fungi, herpes simplex virus, and cytomegalovirus were negative. Autoimmune workup was unrevealing (Table ).
The patient’s hospital course was uneventful. She received three doses of ceftriaxone for urinalysis findings consistent with urinary tract infection and was treated symptomatically with analgesics and anti-histamines. The patient’s fever, rash, and lab abnormalities resolved spontaneously by day 5 of hospitalization and her lymphadenopathy decreased dramatically by discharge. |
pmc-6445876-1 | A 33-years-old woman, previously healthy, presented with 10 years' history of tingling in the little and ring fingers and over the hypothenar part of the palm on the right side. The tingling has progressed from waking her up every night to preventing her from sleep. She had no hand-grip weakness or difficulty with hand dexterity. On examination, she had reduced pinprick sensation in the ulnar distribution of the right hand compared to the normal side of the right hand as well as the left-hand ulnar distribution. Motor examination was normal. The patient had a nerve-conduction study performed at an outside hospital that was suggestive of ulnar-nerve entrapment at the wrist level.
The nerve conduction study showed normal median motor and sensory action potentials. Ulnar-nerve conduction showed reduced ulnar-nerve sensory action potential at the fifth digit. The ulnar motor conduction amplitude when distally stimulating the ulnar nerve and recording at the abductor digiti minimi at the wrist was normal; however, there was a 63% amplitude drop when stimulating below the elbow compared to distal stimulation at the wrist (). This 63% amplitude drop was associated with 30% drop in the area and 63% prolongation in the duration. Conduction velocity across the elbow was slow (26 m/s) compared to the forearm segment (55 m/s) or from above the elbow to the axilla segment (52 m/s). There was no motor response from ADM when stimulating the median nerve at the elbow (). In addition, ulnar motor conduction amplitude when stimulated below the elbow and recorded at the first dorsal interossei showed a 47% amplitude drop when compared to distal stimulation at the wrist (). This 47% amplitude drop was associated with 53% drop in the area and 17% prolongation in the duration. Conduction velocity across the elbow was slow (27 m/s) compared to the forearm segment (57 m/s) or from above the elbow to the axilla segment (52 m/s). The left side ulnar motor potentials were normal with no slowing of conduction velocity across the elbow.
In order to rule out pathology in the forearm on the right that might explain the conduction block, we traced the right ulnar nerve motor potential up to the elbow (). The major part of the amplitude drop (37%), as well as conduction velocity slowing, occurred between 3 and 6 cm distal to the medial epicondyle. There was loss of amplitude as the nerve descended in the forearm, but this is likely attributed to a deeper course distally.
Surgical transposition was conducted and showed nerve swelling distal to the medial epicondyle between the two heads of FCU (). The swollen segment of the nerve extended for additional 2 cm distal to the two heads of FCU and the HUA with no additional cause of entrapment was identified at that segment during the surgical exploration (). Follow up at 6 months after the surgery, the patient has reported complete resolution of the symptoms including absence of tingling sensation and normal sleep. |
pmc-6446056-1 | A 62-year-old caucasian woman came to the emergency room with fever for a month and pain in the left upper quadrants of the abdomen and lower left back pain. She had no other systemic symptoms or comorbidity. Routine blood tests were in the normal range with no evidence of infectious diseases. On clinical examination there were no signs of peritonitis but we found a palpable large mass in left flank. We performed a CT abdominal scan that demonstrated a voluminous solid oval mass (11.2 cm × 7.5 cm × 12 cm) in the left perirenal space with dislocation of the kidney and in continuity with the anterior renal fascia. After iodinated-contrast we observed a progressive, inhomogeneous enhancement of the lesion with peripheral vascularization () [,]. After a percutaneous CT-guided biopsy of the mass the histopathological diagnosis was a dedifferentiated retroperitoneal liposarcoma. Considering the site of the neoplasm in left renal loggia and the absence of others repetitive local or distant lesions our tumor board decided for surgical resection of the mass in block with kidney and left adrenal gland. We chose the possibility of laparoscopic approach with conversion to open surgery in case of muscle infiltration or vascular invasion. After preoperative clinical study [] the surgical procedure was carried out with a transperitoneal approach with the patient in right lateral decubitus position to obtain a large surgical field with well known anatomic landmarks and possibility of exploration of peritoneal organs. We used a laparoscopic 3D vision system [,] with three trocars in the left subcostal region, but during surgical procedure we positioned another 5-mm trocar for spleen retraction. We performed an adequate mobilization of the splenic-pancreatic block in order to identify infiltration of peritumor tissues. We found a well-capsulated mass. The dissection was done with Harmonic scalpel™ (Ethicon Endo Surgery INC – Johnson & Johnson, NJ, USA) from up-to-down until the left renal artery and vein and the ureter were clipped and divided with the aim to perform an in block resection of left adrenal gland, kidney and DD liposarcoma with safety margins adequate for neoplasm resection (a and b). At the end of procedure surgical specimens were positioned in endo-bag and we used Tesseel™ (Baxter International Inc - Deerfield, Illinois, USA) for repositioning splenic-pancreatic block. We left a drain in retroperitoneal space and we did a sovrapubic minilaparotomy for extraction of resected mass [, , , , , , ]. Macroscopically the mass appeared oval, 13 × 11 × 9 cm of size, with a smooth surface coated with a greyish capsule and with regular margins (c and d). The morphological and immunophenotypic characteristics (MDM2 +, vimentin +, S100 +, SMA+, pancytokeratin −, desmin −, CD34 −, ki67 = 20%) confirmed the diagnosis of dedifferentiated liposarcoma (according to WHO 2013). The kidney, the perirenal adipose tissue, the ureter, the adrenal gland and the retroperitoneal lymph nodes appeared to be free from neoplastic infiltration. The patient was discharged from our hospital a week later. On the last follow-up control (about 12 months later) she was in good general clinical condition and without postoperative radiologic evidence of tumor recurrence. |
pmc-6446087-1 | A 74-year-old man was referred to our hospital with severe aortic valve insufficiency and left ventricle dilatation. His past medical history showed hypercholesterolemia and a recent episode of de novo atrial flutter which was treated with electrical cardioversion. His medication included atorvastatin, nebivolol, and dabigatran. He stopped smoking 40 years ago and uses 14 units of alcohol per week.
The patient's vital signs were normal. Physical examination revealed normal pulmonary, abdominal, and neurological functions. Except for a diastolic murmur at the right lower sternal border, cardiovascular examination revealed normal heart sounds. Coronary angiography did not show significant coronary artery disease. Transthoracic echocardiography revealed a severe aortic valve insufficiency with a somewhat impaired function of the left ventricle. Cardiac MRI showed severe aortic valve insufficiency combined with a dilated aortic root (46 mm) and a severely dilated left ventricle with an ejection fraction of 50%. Aortic valve replacement with a biological device (Edwards Lifesciences Perimount 27 mm) was performed. No complications occurred during surgery. Except for a ventral pneumothorax, the patient's recovery was uneventful. He was discharged in good condition to the cardiology nursing ward of a peripheral hospital on postoperative day 4. At two weeks follow-up, the patient was doing well. He did not experience any cardiac complaints. For further recovery, the patient was referred back to the referring cardiology department. After 6 weeks, the patient was reevaluated for his recovery at the policlinic of cardiothoracic surgery, where no abnormal findings were observed during physical examination.
The excised aortic valve was tricuspid and measured 3.5 × 1.3 × 0.3 cm. The cusps were partially calcified. Microscopic examination of cross-sections of the aortic valve leaflets showed areas of calcification with focal ceroid, as can be found in the atherosclerotic valves [, ]. In between the calcification areas, a few reactive small thin-walled blood vessels were found (). Next to calcification, fibrosis and mucoid degeneration was also observed (not shown). In the periphery of the valve, an agglomerate of thin walled, often dilated, blood vessels was observed (Figures and ). These vessels stained positive for CD31 and were negative for D2-40 (staining lymphatic vessels). The vessels were predominantly negative for SMA (not shown). These findings supported the diagnosis of hemangioma of the aortic valve. In retrospect, no clear abnormalities indicative for a hemangioma in the aortic valve were seen in preoperative TTE. The aortic valve did appear slightly thickened, which was assumed to be due to atherosclerotic changes (). |
pmc-6446101-1 | An 8-year-old Caucasian boy presented in September 2013 with a history of frequent loose stools and bleeding per rectum. He was diagnosed with CD and treated with mesalamine (500 mg t.i.d.) initially. Following a CD exacerbation in October 2014, he was treated with oral prednisone regimen (40 mg daily tapering course) and azathioprine (50 mg oral daily). In March 2015, infliximab (biologic) therapy (200 mg IV) was initiated to optimize disease control. In May 2015, the patient was admitted to our institution for exacerbation of CD and C. difficile colitis. He was treated with vancomycin (350 mg oral q.i.d.) and metronidazole (400 mg IVq8h) for C. difficile infection.
The patient developed another CD flare up 3 months later and was reviewed urgently in our outpatient clinic. He was experiencing abdominal pain daily and approximately 7 loose, bloody bowel movements per day and weight loss. The patient most likely ingested contaminated fish prior to the onset of illness, but his close family members were well. No history of recent foreign travel. The patient was treated empirically for a possible recurrence of C. difficile infection with a 10-day course of vancomycin (375 mg oral q.i.d.) and metronidazole (250 mg oral t.i.d.). A repeat stool culture and C. difficile toxin was ordered at this visit.
Three days into treatment for C. difficile, his clinical status was getting worse. He had nausea, intermittent nonbilious vomiting, loose bloody stools, and poor appetite. He lost 8 pounds (10% weight loss) with significant lethargy. The worsening clinical status resulted in a hospital admission at his local hospital. The patient was started on methylprednisolone (40 mg IV daily) for a CD flare up and continued on vancomycin and metronidazole. It was subsequently determined that he had a positive stool culture for E. tarda but no evidence of C. difficile. He continued to be unwell with a fever (temperature 38.2°C), loose stools, and tachycardia (HR 112). He had mild diffuse tenderness in the lower quadrants. In view of his immune-compromised state and risk of bacterial translocation which may set him up for bacteremia, we transferred him to our tertiary centre. He was reviewed by the Pediatric Infectious Diseases team, and blood cultures were drawn prior to commencing intravenous ampicillin (1250 mg IV q6 hours). Therapy for C. difficile was continued as was steroid therapy. His blood investigations confirmed leukocytosis (25.5 × 109 L) with neutrophilia (18.7 × 109 L) and thrombocytosis (746 × 109 L). The CRP was mildly elevated (16 mg L). Ultrasound imaging did not reveal any intra-abdominal abscesses. Endoscopy (Figures and ) and histopathology showed evidence of chronic active gastritis and colitis. Once blood cultures were negative, he was switched to oral amoxicillin (1000 mg t.i.d.). He had gradual clinical improvement and was discharged on a tapering regimen of prednisone 12 days later. Repeat stool culture was negative. |
pmc-6446114-1 | A 54-year-old male with chronic alcoholism presented with altered mental status. He had no other past medical history apart from multiple presentations to emergency services for alcohol intoxication/withdrawal symptoms. He was not on any medications. On presentation, his vital signs were within normal limits. His Glasgow Coma Scale (GCS) was 15. He was alert, awake, but disoriented to time. Physical examination was unrevealing. CT scan of the brain was negative for any acute pathology. Laboratory evaluation revealed serum alcohol level of <10 mg/dL and urine drug toxicology was negative.
His complete metabolic panel revealed a serum sodium concentration of 102 mEq/L, potassium 2.4 mEq/L, chloride 54 mEq/L, bicarbonate 38 mEq/L, blood urea nitrogen 8 mg/dL, creatinine 0.62 mg/dL, magnesium 2.2 mg/dL, phosphorous 2.3 mg/dL, albumin 3.6 g/dL, alkaline phosphatase 116 U/L, aspartate aminotransferase 117 U/L, alanine aminotransferase 122 U/L, and bilirubin 0.9 mg/dL. His plasma osmolality was 212 mOsm/kg.
In the emergency department, he received two 1-liter boluses of 0.9% saline intravenously. His serum potassium was replete with potassium chloride 40 mEq intravenously and 80 mEq orally. He was then started on intravenous 0.9% saline infusion at a rate of 100 mL/hr. Serum sodium concentrations and other electrolytes were monitored periodically (). His serum sodium concentration was 106 mEq/L by 8 hours but increased to 112 mEq/L by 16 hours, at which point 0.9% saline infusion rate was decreased to 60 mL/hr. Patient had remained at baseline, and regular diet was started. By 24 hours, his serum sodium concentration had reached 118 mEq/L. Attempts to relower the sodium concentration were made by starting 5% dextrose in water intravenously at 200 mL/hour. Sodium concentration fluctuated in the range of 114-119 mEq/L over the next 48 hours. Serum sodium concentrations gradually increased by 3-4 mEq/L per day to 123-128 mEq/L from day 4-7 before normal values were noted by day 12.
During the initial 6 days of the presentation, patient remained awake, alert, oriented to person and place. However, he then became somnolent and uncooperative with physical examination, experienced urinary incontinence, and ultimately developed changes in speech, increased tone of the upper extremities, and paraplegia by day 13 of the presentation. During this time, he also failed swallow evaluation requiring nasogastric tube (NGT) placement. CT of the brain without contrast was repeated which did not show any acute pathology. MRI of the brain could not be performed initially due to technical reasons. Over the ensuing days, he lost the ability to vocalize any words, could only answer by nodding, and was unable to elevate his upper extremities initially before losing the ability in the lower extremities. MRI of the brain performed on the third week of presentation revealed changes pathognomonic for central pontine myelinolysis sparing the periphery of the pons confirming clinical suspicion [Figures -].
Over the ensuing weeks to months, aggressive physical therapy, speech therapy, and nutritional support were continued on general neurological ward. One month from symptoms onset, he gradually started to show signs of improvement and was initially only able to form single words, then phrases, and then sentences. By one and a half months, except for dysphagia for which he relied on NGT feedings, he displayed marked improvement in tetraparesis. Modified barium swallow revealed silent aspiration with liquids with no reflexive response to aspiration events, requiring placement of Percutaneous Endoscopic Gastric (PEG) tube 2 months from presentation. He failed repeated swallow evaluations and the PEG tube remained in place for a period of 80 days until he was finally able to tolerate oral pureed diet. |
pmc-6446115-1 | A 46-year-old African American female with a history of DM and leiomyoma of the uterus was admitted for robotic assisted laparoscopic total abdominal hysterectomy and bilateral salpingo-oophorectomy. Her DM was diagnosed during adolescence and was confirmed by genetic testing. Her symptoms were characterized by frequent myotonia and intermittent weakness of the distal extremities. Her weakness had extended to her facial and pharyngeal muscles. Family history was notable for her daughter, who was also diagnosed and treated for DM. Patient other comorbidities included bronchial asthma, chronic sinus bradycardia, cataracts, depression, and obstructive sleep apnea which was being treated with continuous positive airway pressure at night. Her home medications included inhaled albuterol on as-needed basis.
On examination, patient was noted to have distal extremity weakness and pronounced myotonia on shaking hands. Her height and weight were 170 cm and 63 kg, respectively. Heart rate (HR) was regular at 57 beats per minute. Blood pressure (BP) was 147/97 mmHg and respiratory rate was 18 per minute. The remainder of the physical exam was unremarkable.
Preoperative EKG showed sinus bradycardia. Transthoracic echocardiogram showed normal systolic function and no regional wall motion abnormalities. Due to her history of exertional dyspnea (on walking less than two blocks) associated with fatigue and exertional chest pain, her cardiologist decided to do cardiac nuclear stress test with lexiscan, which was negative for ischemia.
General anesthesia was chosen. The patient was brought into the warmed operating room with an 18-gauge (G) intravenous (IV) line in situ in the left arm. Monitors were applied to measure EKG, noninvasive BP, oxygen saturation, temperature, neuromuscular twitch, bispectral index (BIS), and urine output. Rapid sequence induction was accomplished by giving propofol (150 mg) and rocuronium (30 mg) intravenously. Intubation of the trachea with a 7.0 endotracheal tube was facilitated with a MAC 3 laryngoscope. Mechanical ventilation was initiated. A 20 G peripheral IV and 20 G radial arterial line were started in the right arm. Fentanyl 50 mcg was given after induction and propofol (120-150 mcg/kg/min) and remifentanil (0.2-0.3 mcg/kg/min) infusions were started. Warm intravenous fluids and a forced air warmer were used to maintain normothermia. Surgery lasted for three hours and the patient remained hemodynamically stable throughout. Surgeon infiltrated the incision sites with 0.25% bupivacaine. Neuromuscular monitoring, used on orbicularis oculi muscle, showed no twitches on train of four for the rest of the operation and no more muscle relaxant was given. Only at the end of the procedure, weak post-tetanic counts were noted without any train of four; hence sugammadex 240 mg IV was given for reversal of neuromuscular blockade. After a couple of minutes of giving sugammadex, patient started breathing spontaneously. Complete return of muscular strength was noted after ten minutes, approximately. Patient began to shiver while waking up and a forced air warmer was reapplied. Shivering subsided after a minute.
After making sure the patient was fully awake and breathing spontaneously, following commands with adequate muscle strength, the trachea was extubated. In the PACU, she received minimal IV narcotics (total of 35 mcg fentanyl) and IV acetaminophen (1 gm). Surgeon preferred to avoid nonsteroidal anti-inflammatory drugs (NSAIDs) in immediate postoperative period due to the risk of bleeding. She was kept warm with a forced air blanket and her vital signs remained stable. She was breathing comfortably with oxygen saturation above 98% on 2L/min.
The patient was observed in the recovery room for four hours during which time she was doing well without any signs or symptoms of respiratory distress. Her only complaint was about the brief shivering episode after waking up. Patient lived close to the hospital and had good family support; hence we decided to discharge her home and followed up with phone calls in the evening and the following morning. She was discharged home on oral NSAIDs as needed for pain control. |
pmc-6446123-1 | An 83-year-old male with past medical history of mild Alzheimer's dementia, nonischemic cardiomyopathy, aortic regurgitation, and an ascending aortic aneurysm measured at 4.1 cm presented to the pulmonology clinic with an abnormal CT of the chest. He was seen by his PCP recently for follow-up of ascending aortic aneurysm and had a CT chest without contrast performed which showed 14.8 mm pleural-based nodular density in the posterior medial right upper lobe, irregular 20.5 mm right lower lobe nodule, and a 2 mm left upper lobe partially calcified nodule []. He had no respiratory or constitutional symptoms. He was a lifelong nonsmoker without any significant occupational exposures. [18F]Fluorodeoxyglucose-positron emission tomography with CT (18F –FDG PET/CT) was performed showing multiple 18F –FDG avid nodules in the right upper lobe, right lower lobe, and left upper lobe []. Initially thought to be inflammatory in nature, a 3-month follow-up CT chest was recommended; however, the patient opted for CT-guided transthoracic biopsy. Because the tissue sample was a core needle biopsy of a pleural-based nodule, it did not include any bronchial epithelium; therefore, the presence of lymphoepithelial lesions could not be evaluated. Immunohistochemical staining showed CD20 positive neoplastic B cells with CD3 positive small benign T cells. CD21 stain was also positive within the residual dendritic cell network, such that the marginal zones appeared to be expanded. These findings support a histopathologic diagnosis of low-grade B-cell NHL most consistent with marginal zone lymphoma []. The patient was referred to oncology for further management. |
pmc-6446166-1 | Patient 1 is a 3-year 6-month-old male with FXS diagnosed at age 15 months with 250 to 650 CGG repeats. He was born full-term following an uncomplicated pregnancy and delivery at seven pounds six ounces. In the newborn period, he began having problems latching for breastfeeding, and he was fed pumped breast milk and formula from a bottle; he had frequent gagging and spitting up. By 6 months of age, with introduction of soft baby foods, he was often dysphagic, choked easily, and was intolerant of chunky or textured foods. Testing for food allergies was negative, and his formula was changed multiple times over his first year of life. He grew slowly at the third to fifth percentile for weight and the 50th percentile for length until 15 months of age. He was also hypotonic with delays in gross motor skills. He had behavioral concerns, including atypical motor movements, frequent repetitive moving, stiffening and shaking of his legs, body rocking, and repetitive finger stereotypies while touching his ears. He displayed difficulty adjusting to new or noisy places and changes in routine, as well as trouble making eye contact and a short attention span during play and in social interactions; he would sometimes stare off and seem disconnected for 10 to 30 sec.
At 15 months of age, he was evaluated and underwent a brain magnetic resonance imaging (MRI), electroencephalography (EEG), creatine kinase, plasma amino acids, and thyroid and genetic testing. His MRI, EEG, microarray, and laboratory parameters were normal. His FXS DNA test results showed a full mutation for FXS with 260 to 650 fully methylated CGG repeats.
At this time, the patient's parents independently obtained and began administering an oral paste comprising 18% to 23.5% CBD and trace amounts (0.03%) of delta-9-tetrahydrocannabinol (THC) that delivered 50 mg of CBD per day (RSHO™ Blue Label; Naturewell, Inc., San Diego, CA). They combined the CBD paste with coconut oil, heated the mixture until it liquefied, and then used a syringe to administer the liquid preparation orally. During the first month of CBD+ treatment, the family noticed behavioral improvements.
After 1 month of CBD+ monotherapy, the then 16-month-old patient began specialized care in the form of speech and language therapy and occupational therapy for FXS. A baseline measure of adaptive functioning was obtained (). Over the next 3 months of daily 50-mg CBD+ treatment with adjunctive therapy, the family noted continued improvements in a wide range of clinical parameters. Feeding improved markedly with increased willingness to eat solid foods and increased intake overall. His parents also noted improvements in motor coordination, more frequent vocalizations, less rocking and kicking during feeds, more frequent and longer eye contact, an increase in positive interactions with other children, greater willingness to explore new places, and less self-stimulatory behavior. Many of the parental observations were also confirmed by the patient's occupational and speech therapists, some of whom were unaware of the initiation of CBD+ treatment. CBD+ solution was the only medication used in treatment during this time.
At the 4-month follow-up visit, the patient's weight had increased to the 15th percentile, while his length remained at the 50th percentile. Developmental progress included improved fine and gross motor skills, decreased repetitive rocking, improved social interest/engagement, improved vocalizations, and decreased hyperactivity. The patient began a regimen of sertraline (2.5 mg per day) due to preliminary evidence of improved language and development in young children with FXS treated with sertraline. Subsequent follow-up visits (at 21 and 27 months of age) showed continued improvement in language and developmental skills. The patient started walking and self-feeding independently, exhibited more frequent and varied vocalizations, fewer repetitive and motor behaviors, fewer sensory sensitivities (e.g., tolerated noise and lights of fireworks), and more frequent initiation of joint attention with pointing. Weight increased to the 25th percentile. He continued using CBD+ solution and remained in a strong early intervention program: 1 h per week of occupational, speech, and physical therapy; 6 h per week of Early Start Denver Model behavioral therapy and applied behavioral analysis.
When the patient was 30 months of age, his parents chose to discontinue CBD+ treatment to instead explore minocycline, shown to improve behavioral symptoms in some patients with FXS. The initiation of 25 mg per day of minocycline coupled with cessation of CBD+ treatment resulted in increased anxiety, more frequent meltdowns, and more difficulty falling and maintaining sleep.
During a clinic visit when the patient was 3 years of age, it was noted that the patient continued to engage and make slow progress, although anxiety, frequent meltdowns, and difficulties with sleep persisted, and increasing challenges with transitions and attention span were observed. The patient's medical treatments included a daily regimen of 4 mg of sertraline and 25 mg of minocycline. He also continued to receive intensive early intervention services (as described above). At 3 years of age, an updated adaptive behavior assessment was obtained (). After discussion with his family and medical team, the patient was restarted on CBD+ treatment, 50 mg per day. Following reinitiation of CBD+ treatment, his parents noted reductions in anxiety, fewer meltdowns, and improvements in his ability to fall and stay asleep. The patient has now transitioned into a small preschool where he is continuing to do well and has remained on his CBD+ treatment. |
pmc-6446166-2 | Patient 2 is a 26-year-old male with full-mutation (>200 CGG repeats) FXS and an IQ score in the mid-50s. Despite a medication regimen that included 60 mg of methylphenidate hydrochloride (once daily), 2.5 mg of aripiprazole, 100 mg of sertraline, 200 mg of minocycline, and 0.2 mg of clonidine (at bedtime), the patient experienced significant symptoms of attention-deficit/hyperactivity disorder, including hyperactivity, inattention, and impulsivity. He also suffered from anxiety, which led to avoidant behavior and sleep disturbances, and some significant features of autism, including social avoidance, poor eye contact, perseverative behavior, hand stereotypies, and tactile defensiveness.
Due to ongoing symptomatology, the patient began taking a liquid preparation containing 63.9% CBD, 4% cannabichromene, 3.4% THC, and 0.7% phenylbiguanide, delivered orally by a 1-mL syringe. The patient's parents obtained the solution independent of their physician. Between 0.05 and 0.1 mL (i.e., 32.0–63.9 mg CBD) of the oral solution was delivered in the morning, once per day for 6 weeks, during which time other therapies remained unchanged.
During the first week of treatment with the CBD+ solution, the patient's family noticed that his anxiety level was reduced and he was able to explore and participate in more activities with less social avoidance. His facility with language increased, as shown by greater capacity to engage in longer more meaningful conversations. The quality and duration of his sleep also improved; he no longer awoke and wandered in the middle of the night. His symptoms of anxiety and linguistic skills continued to improve over the 6-week course of treatment with the CBD+ solution. His parents have continued him on a stable dose of 0.1 mL daily now for 2 years and have observed sustained symptom improvement. |
pmc-6446166-3 | Patient 3 is a 22-year-old female who was diagnosed with FXS at 9 years of age with a full mutation of >200 CGG repeats. She met all of her early milestones appropriately, but at around 3 to 4 years of age, she developed quite significant anxiety and panic attacks. There was mild benefit associated with initiation of psychological therapies, although her mother described difficulties with new settings, social anxiety, frequent negative perseverative thoughts, and ongoing panic attacks that would vary in frequency depending on her routine and social supports.
Starting in the fourth grade, she had mild academic challenges that were supported with a 504 educational plan through the end of high school. Ongoing anxiety was present and trials of St. John's Wort and other supplements were minimally helpful. She did not receive any other medication treatment. She graduated from college with academic supports, with continued periods of significant anxiety symptoms, social withdrawal, and panic attacks. After college, she began work as an educational aide in a public school, with an exacerbation of anxiety due to this transition into adulthood and pressures of increased independence.
At 22 years of age, her parents provided her with a liquid formulation of hemp oil containing ∼43 mg of CBD daily (Charlotte's Web™ Everyday Advanced; CWB Holdings, Inc., Denver, CO), which she began taking. She described feeling calmer, with fewer perseverative worries, and a cessation of panic attacks. This led to more interactions and activities with peers and improved performance at work. Her mother also noted that she became more engaged socially, calmed more easily when frustrated, and was less likely to fixate on negative aspects of various situations. She missed about 1 week of dosing when on a family vacation out of town, and after a few days without treatment, she experienced recurrence of anxiety symptoms and reemergence of panic attacks. These resolved after she was home and able to restart her CBD+ treatment. She is currently working full time and living independently. She has continued CBD+ treatment for two and a half years with sustained therapeutic benefit. |
pmc-6446304-1 | A12-year-old boy living in Zagreb, Croatia presented at a large pediatric clinic in the Croatian capital of Zagreb with acute enlargement of a regional lymph nodes. He was afebrile and reported pain in the axillar and antebrachial regions of the left arm that had persisted for the preceding three days. Palpation revealed a painful formation measuring approximately 1 × 1.5 cm in medial on the lower third of the left upper arm. A few smaller lymph nodes, the largest being 1 cm, were palpable in the left axillae. The patient did not show or report any other clinical signs. All haematological and biochemical parameters were within physiological ranges, including CRP. Cat-scratch disease was suspected based on anamnesis and clinical findings. Blood was taken for serological testing, and a 5-day regimen of azithromycin (500 mg/day) was prescribed. Ultrasonography of the left axillae and upper arm showed lymphadenopathy typical of cat-scratch disease. Ultrasonography performed at a private clinic revealed approximately 10 smaller lymph nodes and a few larger ones (17–27 mm) showing homogeneous cortex thickness on the left and no obvious differences from the contralateral region. IFAs were performed using a commercial kit (Focus Diagnostics, USA) in the Department of Clinical Microbiology, University Hospital for Infectious Diseases “Dr Fran Mihaljević” (Zagreb, Croatia), and the assays revealed a titer of 1:512 for IgG antibodies against B. henselae and 1:128 for IgG antibodies against B. quintana (positivity defined as ≥1:64 according to the manufacturer’s instructions). The assays were negative for IgM antibodies against both bacteria. Following azithromycin treatment, the patient showed improved status, no pain, and normal-sized lymph nodes in the left upper arm.
The patient’s parents indicated that they owned one cat and one dog, and that the patient played frequently with the cat. The cat was an apparently healthy, 10-month-old female British shorthair that lived primarily indoors but had free access to a yard; the cat had a history of flea infestation. When a diagnosis of cat-scratch disease was suspected, a sample of the cat’s blood was collected at a private veterinary clinic and delivered to the Croatian Veterinary Institute for analysis. Upon isolation of B. henselae from the blood (see below), the cat was treated for 3 weeks with doxycycline (10 mg/kg body weight p/o every 12 h) [, ], and the patient’s parents were advised to protect the cat against ectoparasites.
Both when a diagnosis of cat-scratch disease was suspected and again three months later (following doxycycline treatment), cat’s blood was collected in K2-EDTA tubes (Vacuette, Greiner) and stored overnight at − 18 °C to lyse erythrocytes and release bacteria. The frozen blood was thawed at room temperature, and aliquots (200 μL) were plated in duplicate onto Tryptic soy agar with 5% defibrinated sheep blood (TSA) and Brain heart agar with 5% defibrinated rabbit blood (BH). Both agar bases were purchased from Merck (Darmstadt, Germany) and used to prepare “ready-to-use” plates. Blood was inoculated onto the plates by simultaneously tilting them at a 45-degree angle and rotating them, allowing the blood to flow across the agar without the need for an inoculating loop or mechanical streaking [, ]. The plates were then incubated, agar side down, at 37 °C in a humidified atmosphere of 8% CO2 [, ]. At three days after inoculation, plates were inverted to sit agar side up. At six days after inoculation, single colonies from each type of plate were picked for molecular analysis (see next section). At the same time, single colonies from two TSA plates were subcultured onto two fresh TSA plates, while single colonies from one BH plate were subcultured onto a single fresh BH plate. Cat’s blood after doxycycline treatment was plated onto two fresh TSA and BH plates. Subcultured and plates inoculated after doxycycline treatment were incubated under the same conditions as the first set of plates. Colonies from plates that were subsequently identified as Bartonella spp. by PCR were stored at − 80 °C in Brucella broth supplemented with 10% glycerol (v/v) [].
DNA was extracted from 200 μl EDTA blood and from six cultures using the QIAcube automated DNA isolation system and QiaAmp DNAmini QIAcube Kit, according to the manufacturer’s instructions for blood and tissue (Qiagen, Hilden, Germany). In order to determine whether isolates belonged to the genus Bartonella, DNA from six culture isolates were used as template in conventional PCR targeting 16S rRNA (16S-R as forward primer: F 5′-GCC YCC TTG CGG TTA GCA CAG CA-3′ and P24Emod as reverse primer: R 5′-CCT TCA GTT MGG CTG GAT C-3′) as well as the intergenic transcribed spacer between the 16S and 23S rRNA genes (Bart/16-23F as forward primer: 5′-TTG ATA AGC GTG AGG TCG GAG G-3′ and Bart/16-23R as reverse primer: 5′-CAA AGC AGG TGC TCT CCC AG-3′) [].
The DNA extracted from cultures served as template for MLST at the following nine loci in housekeeping genes []: 16S rRNA gene, batR, eno, ftsZ, gltA, groEL, nlpD, ribC, and rpoB. MLST sequences were assembled, processed and compared using BioNumerics 7.6 software (Applied Maths, Belgium), which identified alleles and sequence types based on published profiles []. Alleles were assigned 9-digit numerical codes and compared using the categorical coefficient and hierarchical clustering using the unweighted pair group method with arithmetic mean (UPGMA) method. MLST results were compared with sequence types (STs) in the B. henselae database () [].
At three days after inoculation, plates did not show visible colonies, although a few plates contained “shiny islets” suggestive of initial bacterial growth. At six days after inoculation, two TSA plates and one BH plate showed visible Bartonella-like colonies (Table ). Upon subculturing onto two fresh TSA plates and one fresh BH plate, growth was visible on all three plates after four days, and it was abundant after six days (Table ). A blood sample taken from the cat after doxycycline treatment did not give rise to bacterial growth even after one month of incubation.
PCR to amplify Bartonella spp. 16S rRNA and intergenic spacer regions was negative for DNA extracted from cat blood sampled before and after doxycycline treatment. Both types of PCR gave positive results when DNA was extracted from TSA and BH colonies cultured from the blood. Sequencing and BLAST analysis indicated B.henselae. The strain was genotyped by MLST and found to have the code 2–1–1-1-1-2-1-1-1, corresponding to genotype ST5 (Fig. ). |
pmc-6446306-1 | A 54 year-old male with a history of orthotropic heart transplant in 2001 for non-ischemic cardiomyopathy presented to the hospital after experiencing intermittent palpitations with associated lightheadedness of one hour duration. He denied any chest pain or shortness of breath, orthopnea or paroxysmal nocturnal dyspnea. At baseline, he described activities consistent with New York Heart Association Class 2. He had recently completed a 4 day course of Prednisone for a gout flare-up. Additional medical history was notable for benign prostatic hyperplasia and hyperlipidemia. Medications included Atorvastatin, Cyclosporine, Finasteride, Levothyroxine, Mirtazapine, Mycophenolate, Omeprazole, Prednisone, Quetiapine, Ranitidine, Tamsulosin, Zolpidem. He had allergies to Azithromycin. He denied tobacco or illicit drug use and alcohol consumption.
On arrival, he was afebrile, heart rate was 54 bpm, blood pressure was 184/89 mmHg, and oxygen saturation was 98% on ambient air. His physical examination was unremarkable and he appeared clinically euvolemic. Cardiac biomarkers revealed a CK of 59 U/L and a troponin of 0.11NG/ML(normal < 0.04NG/ML). B type natriuretic peptide was 371 PG/ML(normal 0-100PG/ML). Routine laboratory studies demonstrated normal sodium, magnesium, serum creatinine, and a potassium of 3.3 mmol/L(normal 3.5–5.1 mmol/L). His hemoglobin and hematocrit were normal. An electrocardiogram revealed a normal sinus rhythm with T wave inversions in the anterior and lateral leads which were unchanged compared to prior ECG (Fig. ). He had no evidence of arrhythmias on cardiac monitoring. Transthoracic echocardiogram revealed left ventricular ejection fraction of 55–65%, left posterior wall of 1.3 cm and interventricular septal wall 1.2 cm, thickened trabeculated apex, with severely dilated left atrium and mildly hypertrophied right ventricle (Fig. ). He underwent a nuclear stress test that revealed mild inferior wall thinning and normal wall motion (Fig. ). A cardiac MRI was performed to further evaluate apical hypertrophy based on his echocardiogram findings. This revealed prominent apical hypertrophy of the left ventricle with near obliteration of the apical cavity (Fig. ). His cardiac biomarkers trended down to normal and he had no evidence of arrhythmias on continuous cardiac monitoring so he was discharged from the hospital with close follow up with his heart transplant team. |
pmc-6446308-1 | A 66-year-old man with multiple cardiovascular risk factors; such as diabetes, hypertension, smoking and STEMI 6 years ago, who did not receive a reperfusion therapy. He consulted the ER referring atypical chest pain that began 8 days prior to his visit. He showed normal vital signs with the following relevant findings in the cardiovascular physical examination: visible and palpable double systolic apical impulse with a wide apical impulse area (4,5 cm in diameter), located in the fifth intercostal space of the left mid-clavicular line. On auscultation, an audible fourth heart sound (S4) was present. The cardiac biomarkers were negative.
Normal sinus rhythm, Q-wave in inferior leads and T-wave inversion in lateral leads. (Fig. ).
Mild cardiomegaly, of note, a homogeneous opacity was observed adjacent to the LV. (Fig. a).
Revealed a saccular image in the LV posterolateral wall, which, due to its characteristics, suggested a thrombosed PSA in the LV free -wall. (Fig. b).
Showed a spherical-shaped left ventricular cavity with segmental wall-motion abnormalities, a LV ejection fraction of 40% by 3D method, (Fig. ) PSA involving the basal and mid segments of both, inferolateral and anterolateral wall; with a narrow neck (38 mm), a shunt of LV to PSA was observed in color Doppler. (Fig. ).
A viability protocol rest imaging/4-h redistribution imaging/24-h redistribution imaging was performed and showed a myocardial infarction located in the inferolateral wall, which involved the inferoseptal region; non-transmural in the apical segment and transmural in basal and mid segment, without signs of viability in the delayed redistribution imaging. (Fig. ).
Multi-vessel coronary artery disease, with involvement of the left main coronary artery and high SYNTAX score [40 pts.]. (Fig. ) Left ventriculography was not performed due to elevated end diastolic pressure and because of the previously reported left ventricular mural thrombus.
The case was discussed by the heart team. Due to the high SINTAX score and the mechanical complication, a coronary artery bypass grafting (CABG) plus aneurysmectomy with geometric reconstruction was considered. On-pump CABG was performed with internal thoracic artery anastomosis to the left anterior descendent coronary artery. A giant posterolateral wall LV PSA of approximately 7 cm was observed; described with a “petrous” consistency and adhered to the posterior pericardium. Due to the previously mentioned findings, it was not possible to perform the aneurysmectomy, as the cardiovascular surgical team considered the benefit was not worth compared to the risk of performing the procedure, so the surgery was concluded. The patient was discharged five days after CABG and he is currently asymptomatic, in NYHA functional class II and is followed up as an outpatient in our hospital. |
pmc-6446321-1 | A 50-year-old Asian man with history of rheumatic heart disease (without hypertension) and mechanical prosthetic mitral valve replacement 5 years before admission, dyslipidaemia and reflux esophagitis presented to the emergency room with severe bilateral occipital headache. He was diagnosed with an intracranial haemorrhage confirmed by CT brain. At the time of admission, his INR was within therapeutic range (2.35). After initial work up, the patient was hospitalized for 10 days and discharged without any residual neurologic sequelae. Atorvastatin was prescribed. No fever or elevation of the C reactive protein (CRP) or erythrocyte sedimentation rate (ESR) were identified during the admission. He worked as an accountant and had been living in the US for the past 30 years with no recent travel outside the US. Three weeks later, he complained of flu-like symptoms and oseltamivir was prescribed. A week later, the patient returned to the hospital with epistaxis, haematuria, and malaise without fever. Physical examination was unremarkable with normal neurologic exam, except for a pansystolic heart murmur. Blood tests showed elevated white blood count (14.5 × 109/L) and serum creatinine of 1.54 mg/dl (Normal value: 0.8–1.2 mg/dl). CRP and ESR were also elevated (34.5 mg/dl and 75 mm/h, respectively). A Chest X ray was found without acute abnormalities and the urine analysis showed no abnormalities. Three days after admission, blood cultures were positive for Gram-positive cocci in chains in 4 out of 4 bottles. Transthoracic echocardiography was inconclusive, but a transoesophageal echocardiography (TEE) revealed a 0.8 cm vegetation on the ventricular side of the native aortic valve without valve dysfunction, confirming the diagnosis of IE. Empirical intravenous antibiotic therapy was started with vancomycin 30 mg/kg/day in divided doses and gentamicin 3 mg/kg/day. The organism was recovered on blood agar and was identified by MALDI-TOF as Lactococcus garvieae. Susceptibility testing showed resistance to clindamycin, whereas it was susceptible to penicillin (MIC 0.25 μg/ml), ceftriaxone (MIC 0.25 μg/ml), vancomycin (MIC 1.5 μg/ml) and levofloxacin (MIC 2 μg/ml). With these results, vancomycin was switched to ceftriaxone 2 g IV twice daily plus gentamicin as combination therapy for the first 2 weeks. This regimen was chosen based on previous cases since no specific guidelines exist on how to treat these organisms. Gentamicin was stopped after two weeks and ceftriaxone was continued for 4 additional weeks pending a surgical decision. In the setting of intracranial bleed and IE, rupture of a mycotic aneurysm was highly suspected and the patient was considered a possible surgical candidate for aortic valve replacement. CT angiography of the brain (5 weeks after the initial episode of intracranial bleed) showed encephalomalacia in the left parietal and occipital lobes with subacute to chronic haemorrhage, with no mycotic aneurysms. After several discussions, the stroke team agreed on resuming anticoagulation with heparin IV drip (considering that the patient had a “chronic” bleed without active haemorrhage and that the risk of embolism was high due to the presence of a mechanical heart valve and IE). It was also suggested postponing aortic valve replacement for at least 4 weeks after effective antimicrobial therapy. After 4 weeks of therapy, decrease of inflammatory markers (CRP to 8.5 mg/dl and ESR to 40 mm/h) was observed and repeat blood cultures were negative.
Upon further questioning, the patient admitted that his diet was rich in grilled fish. Additionally, he reported a long history of chronic epigastric pain for 5 years, for which he had been taking over the counter medicines. An esophagogastroduodenoscopy showed severe gastritis and reflux esophagitis. After 6 weeks of treatment for IE, the patient had clinical improvement with no recurrence of infection but repeat TEE revealed severe aortic valve insufficiency. He underwent mechanical aortic valve replacement without complications and cultures from the excised valve were sterile. |
pmc-6446325-1 | An 18-year-old female suffered from chest oppression on effort for a month. She visited a hospital, and her electrocardiogram showed ST-segment depression in leads I, aVL, and V2–4 (Fig. a). She was suspected of having angina pectoris, and was referred to our hospital. Her laboratory data on admission showed a normal range of creatinine kinase and troponin I as shown in Table . Echocardiography revealed normal left ventricular contraction and mild to moderate aortic regurgitation. Coronary angiography showed severe stenosis in the ostium of both the left main trunk and the right coronary artery (Fig. a, b). Quantitative coronary angiography analysis was performed with a computerized quantitative analysis system (QAngio XA version 7.3, Medis Medical Imaging System, Leiden, The Netherlands), using a contrast-filled catheter as a calibration source. The percentage of the diameter of the most severe stenosis compared with the reference diameter was defined as % diameter stenosis []. % diameter stenosis of the ostial stenosis was 95.0% in the left main trunk and 87.2% in the right coronary artery. Intra-coronary administration of isosorbide dinitrate did not dilate the coronary ostial stenosis, suggesting that the stenosis was an organic lesion. Optimal medical treatment, including beta-blocker, antiplatelet, and statin, was initiated for her coronary artery disease. Contrast-enhanced CT showed no specific abnormality of the aorta (Fig. a, b). She did not have renal artery stenosis or hypertension. Her right and left ankle-brachial indices were 1.08, and 1.03, respectively. She was examined by an ophthalmologist and did not have vision impairment. Magnetic resonance angiography revealed no significant stenosis of her carotid artery. The patient had no coronary risk factors or signs of infectious disease and congenital heart disease. C-reactive protein, serum amyloid A, and erythrocyte sedimentation rate (1 h) on admission were 2.13 mg/dL (normal range: 0.00–0.30 mg/dL), 479 μg/mL (normal range: 0.0–8.0 μg/mL), and 40 mm (normal range: 3–15 mm), respectively, suggesting systemic inflammation. 18F-FDG PET/CT showed isolated inflammation of the aortic root (Fig. a, b). She was therefore diagnosed with Takayasu arteritis, and oral administration of prednisolone was started from 0.56 mg/kg/day. Tocilizumab was added 3 months after the initiation of prednisolone (Fig. ). Follow-up coronary angiography showed regression of the ostial stenosis 4 months after the initiation of prednisolone, and % diameter stenosis was 86.7% in the left main trunk and 72.6% in the right coronary artery (Fig. c, d). Intravascular ultrasound or optical coherence tomography was not performed for the ostial lesions. Her C-reactive protein and erythrocyte sedimentation rate (1 h) were decreased to 0.03 mg/dL and 5 mm, respectively. The second 18F-FDG PET/CT showed decreased 18F-FDG uptake in the aortic root, but still showed inflammation (Fig. c, d). Her serum amyloid A of 13.8 μg/mL was not normalized, therefore we decided to control the disease activity by combined immunosuppressive treatment including steroid pulse therapy (methylprednisolone 1 g/day for 3 days). Oral methotrexate ranging from 4 to 8 mg/week was administered to decrease corticosteroid dose (Fig. ). The levels of serum amyloid A were not significantly increased and the dose of prednisolone was decreased from 0.28 to 0.21 mg/kg/day after administration of methotrexate.
Myocardial perfusion imaging with 13N-ammonia PET detected myocardial ischemia (Fig. ). Coronary artery bypass surgery was considered after the suppression of disease activity, but the patient and her family rejected invasive revascularization for coronary artery disease. After immunosuppressive treatment with prednisolone, tocilizumab and methotrexate, chest oppression and ST-segment depression was not observed (Fig. b). She was discharged after a 201-day hospitalization and administered 0.21 mg/kg/day of prednisolone, 8 mg/week of methotrexate, 162 mg/week of tocilizumab, 40 mg/day of isosorbide dinitrate, 15 mg/day of nicorandil, 100 mg/day of aspirin, 2.5 mg/day of rosuvastatin, and 10 mg/day of carvedilol. Electrocardiogram at rest revealed no significant ST-T change, and laboratory data showed no significant increase of C-reactive protein, erythrocyte sedimentation rate (1 h), or serum amyloid A in the ambulatory follow-up. She had no cardiac events for 6 months after discharge. |
pmc-6446330-1 | A 27-year-old male Ecuadorian observed taeniid proglottids in his stools on March 24, 2001. The date of infection was precisely known as he remembered having consumed undercooked pork in the Northern Andes on a single occasion, on December 31, 2000. This day will be regarded as day 0 (Fig. ). He stated that he never had tapeworm infections before. At the veterinary department of the “Universidad Central del Ecuador” these proglottids were identified as T. solium. Elimination of proglottids went on for one week. Proglottids were carefully collected and stored in Ethanol 70%.
On day 90 a single oral dose of praziquantel 10 mg/kg body weight was administered together with 5 mg of Bisacodilo (Dulcolax®) at night. Faeces were collected in a hermetic plastic bag and transported to the lab. Around 1,5 m of an expulsed tapeworm with an intact scolex was recovered. Review of the adult cestode allowed to identify it as a T. solium specimen which was confirmed by morphology, isoenzyme electrophoresis based on glucose phosphate isomerase (GPI-zymograms) and molecular protocols as were described by Rodríguez-Hidalgo et al. [].
As a precaution, the patient was advised to have a check-up for cysticercosis. A B158/B60 monoclonal antibody-based sandwich ELISA was used for detecting of circulating cysticercal antigen in serum (Ag-ELISA) [, ], whereby the cut-off level is calculated by comparing the optical density of each sample with the mean of a series of eight negative human serum samples at a probability level of P = 0.001. The results are expressed as a ratio, i.e. values higher than one, considered as being positive [–]. Initially, this assay has been developed for the ante-mortem diagnosis of bovine cysticercosis, [, ], later-on Ag-ELISA usefulness for the diagnosis of human cysticercosis has been tested [, , ]. The Ag-ELISA performed on day 122 was negative. The patient, in the meantime developing a slight headache and living in Belgium, was referred to the outpatient department, Institute of Tropical Medicine, Antwerp. A physical examination, full blood count and biochemical profile were normal and stools for ova were negative. The retinae did not show any lesion or cysticerci. An Ag-ELISA performed on day 135 was weakly positive. The test became clearly positive on day 142. A magnetic resonance image (MRI) of the brain was taken on day 156, revealing 20 cysticerci in the supra- and infratentorial brain parenchyma (Fig. ). The lesions were small (3–5 mm), in degenerative phase (granular-nodular). There were no mass effects, intraventricular cysts or signs of hydrocephalus.
The patient was hospitalised (the standard informed consent of the hospital was signed by the patient) and treatment with dexamethasone (tapering dose), praziquantel 3 g single dose, followed by albendazole 800 mg per day for 8 days was administered (day 172 till day 180) proposed by the physician. A second MRI image, taken on day 213 showed the near disappearance of cysticerci in the brain, with the exception of one small subinsular degenerative lesion (Fig. ). The patient did not experience any particular symptom during treatment, but shortly after this treatment a slight temporary hepatitis was observed (blood biochemical profile), contributed to a secondary reaction to the medication. Back in Ecuador, the patient was follow-up by a physician who advised Ag-ELISA detection twice per year which were negative. In addition, two MRI and one Computed tomography scan (CT-scan) were conducted in 2002, 2008 and 2019, respectively; no lesions or calcifications were observed in these images. Seventeen years later, the patient has not shown any side effects nor symptoms related to the treatment or to NCC. No Taeniosis or NCC reinfection were also reported. The treatment was successful. |
pmc-6446405-1 | The patient was a 14-year-old male child without notable past medical history and no recent travel. On admission, he had fever, lethargy and diarrhea, and physical examination revealed fever (39 °C), tachycardia, blood pressure 65/35 mmHg and poor peripheral perfusion. Several boils were observed on the right elbow. He had subnormal white blood cell count 2.8 × 109 / L with low lymphocyte count (13%), a moderate thrombocytopenia and raised CRP (347 mg/L) and procalcitonin plasma levels (279 ng/mL). The diagnosis of septic shock with a possible associated toxic mechanism was retained and intravenous (i.v.) cefotaxime and clindamycin were started with concomitant volume expansion. In the Intensive Care Unit, the patient was intubated as he became confused, needed norepinephrine, inotropic support by epinephrine, and required hemofiltration. Blood cultures showed methicillin susceptible S. aureus (MSSA) and treatment was switched to i.v. cloxacillin, clindamycin, and gentamicin. Complementary explorations revealed multiple septic pulmonary abscesses, an abscess of the left occipital lobe, and the absence of endocarditis. In view of septic emboli, clindamycin was switched to fosfomycin in order to have a better cerebral diffusion. The patient then developed ischemia of the four limbs without any purpuric lesion or signs of disseminated intravascular coagulation, which unfortunately rapidly progressed to dry gangrene of the left toes and of the right leg requiring amputation at day 11 after admission. The clinical status of the patient improved slowly. Catecholamines were stopped at day 6, the patient got extubated at day 11, and he recovered an efficient renal function 5 weeks after his admission. He had no serious neurological injury and a control cerebral MRI was normal three months later.
Our initial hypothesis underlying this atypical phenotype was the association of a vasospasm due to high doses of vasopressors and microcirculation disorders due to sepsis. We therefore analyzed the amputated specimen by light microscopy. Samples of left and right amputations were formalin fixed, paraffin embedded, and cut into 3 μm-thick sections. Sections were stained with Hematoxylin and Eosin, Gram, Periodic Acid Schiff and Grocott staining. The histopathologic analysis revealed perivascular infiltrates of mononuclear cells and neutrophils with arterial involvement (medium-sized vessels) without any capillary lesion (Fig. a and b). Furthermore, the arterial endothelium was destroyed and the walls were invaded by Gram-positive cocci with subsequent thrombosis (Fig. c and d).
In order to decipher mechanisms underlying these clinical and histopathological findings, pathogen virulence and host factors were analyzed. A whole-genome shotgun library was prepared with Nextera XT Kit (Illumina, San Diego, CA, USA) and sequenced on the MiSeq Illumina sequencing platform (2 × 150 bp paired-end reads). All reads were screened by mapping to known alleles of virulence genes using the Short Read Sequence Typing for Bacterial Pathogens program (SRST2) []. Virulence gene allele sequences were retrieved from the virulence factor database (VFDB, ). SRST2 was also used to define the sequence type of the strain. Antibiotic-resistance predictions were performed directly from raw reads using “Mykrobe predictor S. aureus” tool []. All generated sequences are available at NCBI’s BioProject database under accession number PRJNA315766 (). The sequenced S. aureus isolate was a methicillin-susceptible strain harboring a staphylococcal cassette chromosome (SCC). The patient’s strain genome encoded numerous pathogenesis-related genes. The virulence gene equipment of the strain notably included several cytotoxin genes encoding the gamma-hemolysin and the Panton-Valentine (LukSF-PV), LukED and LukGH leukotoxins. It also included genes involved in adhesion and biofilm formation, genes encoding various enterotoxins (A, H, K, and Q) and superantigens, exoproteases and immune response evasion proteins (Table ). The patient’s strain belonged to the clonal complex CC1-MSSA-SCCfus [PVL+].
Then, thrombophilic factors and immunity of the patient were examined. Initial low circulating protein antithrombin, C and S returned to normal after one month, and other factors associated with hereditary thrombophilia including activated protein C resistance, lupus anticoagulant and prothrombin G20210A mutation, were absent. Lymphocyte subsets of the patient were determined by routine flow cytometry, serum levels of the IgM, IgA, IgG, and IgG subclasses were assessed by standard nephelometry techniques, and complement was measured via enzyme-linked immunosorbent assay (ELISA). Activation of complement pathways was normal as well as B, T and NK lymphocyte cell count and immunoglobulin levels. Then, activation of cells in whole-blood of the patients were determined after granulocyte isolation by Ficoll density gradient centrifugation. Cells were activated with Toll like receptors agonists, stained with anti-CD62L-FITC, and analyzed by flow cytometry. In vitro stimulation of the patient’s peripheral blood mononuclear cells by LPS showed a standard production of cytokines IL-6 and IL-10 by ELISA.
Finally, functional common polymorphisms associated with severe infections and septic shock (PAI-1, rs1799768; MIF, rs755622; ACE rs17326674 IL6, rs1800795; TNF rs1800750, rs1800629, rs361525, and rs909253; TLR2, rs5743708 and rs5743704, TLR4, rs4986790; TLR5, rs5744168; IRAK1, rs1059703; IKB, rs2233406 and rs3138053; FCgammaRIIA, rs1801274 and CFH, rs1065489) [, ] were genotyped using TaqMan Single Nucleotide Polymorphism Genotyping Assays as previously described []. Genomic DNA was extracted from mononuclear cells using MagnaPure Compact automate (Roche Diagnostics®). The SNP genotyping revealed that the patient was homozygous for four potential deleterious variants of IRAK1, MIF, ACE, and PAI-I (Table ). |
pmc-6446430-1 | A 51-year-old male with past medical history of HIV with CD4 count of 32/mm3 presented to the emergency department with a chief complaint of left-sided weakness and altered mental status. He was a poor historian and was falling asleep intermittently during interviewing. Further history from family revealed that he had been diagnosed with HIV for more than 5 years and has been very noncompliant with treatments. On physical examination, the patient’s vital signs were significant only for elevated blood pressure of 150/92 mm Hg. He was noted to have an 8-cm fixed, subcutaneous mass on left frontoparietal skull. The rest of dermatologic examination revealed intact skin without erythema or ulceration. Laboratory investigation was insignificant except for mild leukocytosis (10.7 × 109/L) and neutrophilia (6.4 × 109/L). Computed tomography scan of head without contrast revealed no intracranial hemorrhage; however, multiple masses were noted including a 2.8-cm right superior frontal intra-axial hyperdense mass with an adjacent mixed density 2.7-cm right frontal mass, a 1.6-cm right frontal nodule, a 7-mm right frontal hypodense nodule and a 1.3-cm left frontal nodule. These lesions were associated with marked surrounding infiltrative versus vasogenic edema, which were suspicious for malignancy. In addition, a left frontal infiltrative osseous mass with overlying soft tissue swelling was noted, compatible with malignancy. Subsequent magnetic resonance imaging of the brain showed a 2.5-cm destructive bone lesion in the left frontal skull with a large soft tissue mass in the left frontal scalp and multiple enhancing masses in both cerebral hemispheres measuring up to 2.8 cm in diameter with surrounding edema consistent with metastatic disease to the brain and skull ( and ).
Chest X-ray showed 4.3-cm left hilar mass and subsequent computed tomography of the chest/abdomen/pelvis revealed a 6.2 × 3.8 cm lobulated mass on left hilar region (), bilateral pulmonary and liver nodules as well as a pulmonary embolus of right lower lobe pulmonary artery.
Scalp biopsy of the frontal mass demonstrated an extensively necrotic tumor with nested architecture with high NC (nucleus-to-cytoplasm) ratio and indistinct nucleoli. There were many apoptotic bodies and readily identifiable mitotic figures. Tumor cells were positive for CK20, chromogranin A, neuron-specific enolase, and Ki 67—100%, and negative for CK7, thus confirming the diagnosis of MCC. Since he presented with a large hilar mass, which is unusual for metastatic presentation, a biopsy was performed on the hilar mass, which also confirmed that specific markers for MCC favoring metastatic disease rather than primary lung lesion.
The clinical characteristics of the scalp lesion and the large hilar metastatic lung lesion were very unusual presentations and had not been described previously in MCC, which makes this case unique. He was started immediately on central nervous system radiation due to presentation with altered mental status. Immunotherapy (avelumab) was planned, but in the meantime, he underwent 1 cycle of chemotherapy with carboplatin/etoposide until avelumab was available. But within a week of starting treatment, the patient deteriorated with disease progression and died due to respiratory failure. |
pmc-6446437-1 | A 44-year-old Caucasian man presented to an outpatient clinic with a 2-month history of fatigue, night sweats, weight loss, loss of appetite, and mild abdominal discomfort. The patient did not have fever, chills, cough, nausea, vomiting, itching, urinary, or bowel symptoms. The patient had a past medical history significant for biopsy-proven sarcoidosis of the mediastinal lymph nodes, which was diagnosed 9 years prior. At that time, the patient had hilar lymphadenopathy seen on a routine chest radiography. The disease seemed inactive, as the patient never had symptoms related to sarcoidosis nor received treatment throughout the years. He also had a history of hypertension, hyperlipidemia, bipolar disorder, coronary artery disease with percutaneous coronary intervention performed a month prior to the current presentation, as well as a recently diagnosed type 2 diabetes mellitus. His regular home medications included amlodipine, metoprolol tartrate, lisinopril, lamotrigine, clopidogrel, metformin, rosuvastatin, and sildenafil. The patient denied any history of alcohol or tobacco use and stated that he used to work as a secretary.
On physical examination, the vital signs were normal. Body mass index was 37.2 kg/m2, and weight was 263 pounds. The general, lung, heart, and abdominal examinations were unremarkable, and no palpable lymphadenopathy was identified. A battery of laboratory tests were performed and revealed the following: alanine aminotransferase and aspartate aminotransferase levels were within normal limits; however, the alkaline phosphatase (ALP) and γ-glutamyl transferase (GGT) levels were elevated (ALP = 258 U/L, reference = 38-126 U/L; GGT = 274 U/L, reference = 12-73 U/L). He was also found to have hyperbilirubinemia (total bilirubin was 1.7 mg/dL, reference = 0.0-1.3 mg/dL, and direct bilirubin was 0.7 mg/dL, reference = 0.0-0.3 mg/dL). The total protein, albumin, serum creatinine, and calcium levels were within normal limits. Further workup including ceruloplasmin, serum iron saturation, lactate dehydrogenase, serum angiotensin converting enzyme level, and erythrocyte sedimentation rate were normal. Alpha-1 antitrypsin antigen, a viral hepatitis panel, and anti-mitochondrial and anti-smooth muscle antibodies were negative. A slight elevation in β2-microglobulin levels were noted (3.2 mg/L, reference = 0.8-2.34 mg/L).
Ultrasound examination of the abdomen was negative for common bile duct dilatation but showed a 3.5 × 4.1 cm abdominal mass at the head of pancreas. Computed tomography (CT) scan of the abdomen and pelvis with intravenous contrast demonstrated cirrhotic appearance of the liver with steatosis, with enhancing hepatic masses, splenomegaly, and multiple enlarged lymph nodes in the periaortic and portocaval areas. The largest lymph node was measured at 7.2 × 4.3 cm in diameter in the precaval area. There was, however, no visible pancreatic lesions, biliary duct dilatation, or gallbladder stones ().
Histopathological examination of a transjugular liver biopsy showed expanded portal areas containing occasional granulomas with the majority of the granulomas appear non-necrotizing, with a few demonstrating central necrosis. Mild macrovascular steatosis and chronic inflammation is noted (). Auramine-rhodamine and GMS stains was negative for acid-fast bacilli and fungal organisms. Staining for iron and immunoglobulin G4 was negative.
Evaluation for other etiologies of abdominal lymphadenopathy was performed to exclude malignancies and infectious granulomatous diseases. Infectious workup for granulomatous hepatitis was negative for Histoplasma, Bartonella, tuberculosis, and Coxiella burnetii (Q fever). An autoimmune workup including ANA, ANCA, immunoglobulin G4, complement C3, and complement C4 levels was performed and was unremarkable.
A provisional diagnosis of hepatic sarcoidosis and nonalcoholic steatohepatitis was procured based on the biopsy results. Unfortunately, at that time the patient refused steroid treatment as well as immunosuppressive therapy; however, he agreed to ursodeoxycholic acid 1500 mg daily to help with itching.
Two months later, the patient started to complain of excruciating pain in his lower back with radiation to his thighs and legs, in addition to diffuse joint pain. His loss of appetite and fatigue did not improve significantly, and he continued to lose weight. A whole body positron emission tomography-CT scan showed extensive hepatic uptake, hypermetabolic lymphadenopathy involving the chest, cervical, supraclavicular regions, upper abdominal, retroperitoneal, iliac chain, and inguinal lymph nodes, as well as numerous fluorodeoxyglucose-avid osseous lesions involving the thoracic and lumbar spine, left proximal humerus, left scapula, pelvis, and proximal right femur. There was a concern of metastatic bone disease given the widespread distribution of the lesions (). Evaluation with spine, pelvis, and upper extremity, magnetic resonance imaging (MRI) showed multiple small marrow lesions involving the vertebral bodies in the thoracic and lumbar spine, with small spotty lesions noted in the sacrum, pelvis, hips, ribs, and humerus on the left. MRI of the brain showed no evidence of neurosarcoidosis. An ophthalmologist evaluated the patient, and ocular involvement was ruled out. The patient underwent a bone biopsy of the T12 vertebra, which revealed benign trabecular bone with replacement of the marrow space with numerous non-necrotizing granulomas and fibrosis consistent with diagnosis of vertebral sarcoidosis ().
Of note, while this extensive workup was taking place, the patient developed a sudden onset of left flank pain and hematuria. There was a small left ureteric stone on abdominal imaging identified. He underwent laser lithotripsy and left ureteral stent placement.
The patient agreed to immunosuppression and was started on methotrexate 20 mg subcutaneously once weekly, folic acid 1 mg daily, and prednisone 5 mg daily as treatment for systemic sarcoidosis. However, 2 months later, he developed actinomycosis skin infection of the groin. Methotrexate was held, and he was treated with amoxicillin until the infection resolved. The patient was restarted on methotrexate. Two months after restarting methotrexate, the patient reported significant clinical improvement of his pain, loss of appetite, and has gained 40 pounds since the start of methotrexate. His liver enzymes improved significantly. A repeat positron emission tomography-CT scan demonstrated a decrease in the lymph nodes, bone, and hepatic lesions size. |
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.