Kymberly Gyure

West Nile Virus Infections

Since its introduction to the United States in 1999, West Nile virus (WNV) has become endemic in North America and has emerged as the most common cause of epidemic meningoencephalitis in North America and the leading cause of arboviral encephalitis in the United States. West Nile virus is maintained in nature by cycling between mosquito vectors and bird hosts; humans are incidental hosts. Transmission to humans occurs predominantly after a bite from an infected mosquito but has also occurred via transfusion of blood products, via organ transplantation from infected donors, transplacentally, and percutaneously through occupational exposure. Approximately one of 150 patients develops central nervous system manifestations, including meningitis, encephalitis, and acute flaccid paralysis/poliomyelitis. Risk factors for neuroinvasive disease include older age and immunosuppression. Imaging findings are nonspecific, and cerebrospinal fluid findings include pleocytosis, elevated protein, and normal to decreased glucose. The diagnosis is made in most patients on serological examination. Reverse transcription polymerase chain reaction tests are useful to screen blood products and for surveillance of birds and mosquitoes. The pathological findings are typical of a viral meningoencephalitis and include microglial nodules, perivascular chronic inflammation, and variable neuronal loss with necrosis or neuronophagia. Treatment is largely supportive, and control of the mosquito vectors may reduce the incidence of human infections.

Systemic distribution of west nile virus infection : Postmortem immunohistochemical study of six cases

Rare cases of West Nile virus (WNV)‐associated inflammation outside the central nervous system (CNS) have been reported. We evaluated the systemic distribution of WNV in postmortem tissues during encephalitis in six patients using immunohistochemistry. WNV antigens were detected in neurons of CNS (all 6 cases), kidney (4 cases), lungs (2 cases), pancreas (2 cases), thyroid (2 cases), intestine (2 cases), stomach (1 case), esophagus (1 case), bile duct (1 case), skin (1 case), prostate (1 case) and testis (1 case). In systemic organs epithelial cells were infected. In none of the six cases were viral antigens identified in hepatocytes, heart, adrenal gland, nerves, skeletal muscles, bone, vessels and fat. All cases in which viral antigens were identified in systemic organs in addition to CNS were severely immunocompromised transplant recipients. With the exception of testis and brain, most foci of infection were not associated with inflammation. While the absence of inflammation may in part be due to patient immunosuppression or to possible transient nature of any host response, compartmentalization of viral antigen to the luminal region of epithelial cells may sequester WNV from immune recognition. Comparison of our findings with previous reports suggests that patients with WNV encephalitis can have widespread systemic infection.

Neurosarcoidosis: unusual presentations and considerations for diagnosis and management

Background Sarcoidosis is a chronic, multisystem disease characterised by non-necrotising granulomatous inflammation of unknown aetiology. Most commonly, the lungs, lymph nodes, skin and eyes are affected in sarcoidosis; however, nervous system involvement occurs in approximately 5%–15% of cases. Any part of the nervous system can be affected by sarcoidosis. Cases Herein we describe three unusual patient presentations of neurosarcoidosis, one with optic neuritis, a second with hydrocephalus and a third with cervical myelopathy. Conclusions We include pertinent details about their presentations, imaging findings, pathology, management and clinical course.

Vital signs: how early can resident evaluation predict acquisition of competency in surgical pathology?

OBJECTIVES To determine whether a longitudinal, case-based evaluation system can predict acquisition of competency in surgical pathology and how trainees at risk can be identified early. DESIGN Data were collected for trainee performance on surgical pathology cases (how well their diagnosis agreed with the faculty diagnosis) and compared with training outcomes. Negative training outcomes included failure to complete the residency, failure to pass the anatomic pathology component of the American Board of Pathology examination, and/or failure to obtain or hold a position immediately following training. FINDINGS Thirty-three trainees recorded diagnoses for 54 326 surgical pathology cases, with outcome data available for 15 residents. Mean case-based performance was significantly higher for those with positive outcomes, and outcome status could be predicted as early as postgraduate year-1 (P  =  .0001). Performance on the first postgraduate year-1 rotation was significantly associated with the outcome (P  =  .02). Although trainees with unsuccessful outcomes improved their performance more rapidly, they started below residents with successful outcomes and did not make up the difference during training. There was no significant difference in Step 1 or 2 United States Medical Licensing Examination (USMLE) scores when compared with performance or final outcomes (P  =  .43 and P  =  .68, respectively) and the resident in-service examination (RISE) had limited predictive ability. DISCUSSION Differences between successful- and unsuccessful-outcome residents were most evident in early residency, ideal for designing interventions or counseling residents to consider another specialty. CONCLUSION Our longitudinal case-based system successfully identified trainees at risk for failure to acquire critical competencies for surgical pathology early in the program.

Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature

Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus. Gene mutation analysis revealed pathogenic biallelic mutations of PMS2 and heterozygous DICER1 variant predicted to be pathogenic. This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis.

Completed suicide in an autopsy-confirmed case of early onset Alzheimer’s disease

We report a case of a 57-year-old male with clinically diagnosed and autopsy-confirmed early onset Alzheimer’s disease who completed suicide by gunshot wound to the chest. This case has several unique aspects that have not been discussed in previous case reports of completed suicide in Alzheimer’s disease. In particular, our patient’s death was highly planned with successful compensation for his cognitive deficits. After all firearms had been removed from the home as a safety precaution, he obtained a new weapon, hid it and left himself cues to find and use it. The case is discussed in the context of literature differentiating the neural circuitry propagating impulsive versus planned suicidal acts.

Ocular Human Papillomavirus Infections

CONTEXT - Human papillomavirus (HPV) has a well-known role in the pathogenesis of squamous cell carcinoma and precursor lesions of the cervix, anogenital region, and head and neck, but its role in the development of squamous neoplasms of the eye, particularly the conjunctiva, remains unclear. OBJECTIVE - To review recent evidence implicating HPV in the pathophysiology of ocular lesions. DATA SOURCES - Published articles obtained from a PubMed search of the English literature were the primary sources for this review. CONCLUSIONS - The low-risk HPV types 6 and 11 appear to play a role in the development of at least a subset of conjunctival squamous papillomas. The role of HPV in the pathogenesis of pterygium and ocular surface squamous neoplasia is less well defined. There is evidence to suggest that HPV may be a cofactor in the development of these lesions, acting in concert with ultraviolet radiation and/or human immunodeficiency virus infection in a subgroup of cases.

Dissociated Excitation‐Contraction Coupling in Infantile Pompe Disease

Bj€ orn Enzi, MD Christian Boy, MD Annika Kowoll, MD Jens Eyding, MD Uwe Schlegel, MD Department of Neurology, University Hospital Knappschaftskrankenhaus Bochum, Ruhr University Bochum, Bochum, Germany Department of Psychiatry and Psychotherapy, LWL University Hospital Bochum, Ruhr University Bochum, Bochum, Germany Department of Diagnostic and Interventional Radiology, Neuroradiology and Nuclear Medicine, University Hospital Knappschaftskrankenhaus Bochum, Ruhr University Bochum, Bochum, Germany

Giant calvarial intraosseous angiolipoma: a case report and review of the literature

Intraosseous angiolipomas are very rare tumors occurring most commonly in the ribs and mandible. Only two cases with intracranial involvement have been reported in the literature. We report a case of a giant calvarial angiolipoma and its surgical treatment in a 30-year-old female who presented with a slowly expanding skull mass and discuss relevant radiological, histological and surgical findings.