Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Background: Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are primarily thought to arise due to aberrant hyperactivation of the RAS growth factor signaling pathway. Here, we sought to further define the molecular pathogenesis of schwannomas.

Spongiform leukoencephalopathy: A unique case of biopsy confirmed leukoencephalopathy secondary to toxic, non-inflammatory exposure.

Toxin-induced leukoencephalopathy is a rare neurological condition that has been previously associated with intracranial radiation, chemotherapy, drugs of abuse, and environmental exposures. Herein, we present a patient with brain-biopsy proven toxin-induced leukoencephalopathy, likely secondary to multiple environmental offenders including insecticides and non-Food and Drug Administration approved anabolic steroids, opioids, and benzodiazepines. A 60-year-old man presented to our service as a direct transfer from an outside facility for evaluation of a rapidly progressive neuropsychiatric decline.

Facial Nerve Schwannoma Complicated by Acute Hemorrhage After Treatment with Stereotactic Radiosurgery.

Background: Facial nerve schwannomas (FNSs) are rare benign tumors that arise from Schwann cells of the facial nerve. FNSs are similar to vestibular schwannomas in many aspects, yet their infiltrative nature into the facial nerve fascicles warrants a more conservative management approach. In the last decade, stereotactic radiosurgery (SRS) has shown promise in stabilizing or shrinking FNSs.

Small lymphaticovenous malformation of the orbital apex clinicopathologic correlation.

Purpose: To familiarize clinicians with the clinical and magnetic resonance imaging (MRI) features of a small orbital apex lymphaticovenous malformation that resulted in blindness and evaded timely clinical diagnosis.

Observations: A 68-year-old man presented with severe vision loss due to a 9 mm mass at the apex of the orbit above the optic nerve. When surgically removed 4 years later, the lesion was characterized by vascular spaces of varying size.

PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review.

Background: Rosette forming glioneuronal tumors are rare, World Health Organization (WHO) grade I novel tumors frequently affecting the fourth ventricle or posterior fossa with typical neuronal pseudorosettes. RGNTs have been described as possessing additional histologic features of DNETs or pilocytic astrocytomas. Activating PIK3CA mutations have been identified as recurring genetic event in RGNTs.

Prevalence of hypovitaminosis D and the different-dose cholecalciferol supplementation effects on renal transplant recipients.

High prevalence of hypovitaminosis D has been observed in patients with chronic kidney disease. However, there is not much data about its prevalence in kidney transplant recipients (KTRs). The study included 83 adult KTRs at a single center to calculate the prevalence of hypovitaminosis D.

Role of renal expression of CD68 in the long-term prognosis of proliferative lupus nephritis.

Introduction: Renal histology of proliferative lupus nephritis (LN) shows increased macrophage infiltration, but its association with renal outcome is a matter of debate. Here, we investigate the potential relationship that macrophage expression has with renal prognosis in patients with proliferative LN.

Methods: Fifty patients newly diagnosed with proliferative LN were followed for a median of 8 years.

Outcomes in renal transplant recipients with lupus nephritis: experience at a single center.

Background: The long-term prognosis of renal transplant recipients with systemic lupus erythematosus is still controversial. The outcome of these patients depends on the population studied, race/ethnicity, socioeconomic conditions, donor-related factors and recurrent lupus nephritis (LN), among other factors.

Objective: This study was conducted to evaluate kidney transplantation outcomes for adult Brazilian patients with LN at a single center.

MYH9 and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population.

MYH9 polymorphisms have been described to be associated with the risk of CKD in non-diabetic nephropathy, HIV nephropathy and FSGS. Predominating in black descendants, MHY9 genetic variants could partially explain the excess risk of CKD associated with African ancestry. However, recent data suggests that APOL1 gene co-segregate with MYH9, and could be the gene truly associated with CKD risk.

Blind and confused.

A 62-year-old man developed confusion and was diagnosed as having encephalitis. The etiology was not identified. He continued to have cognitive impairment but remained clinically stable.

Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare degenerative neurological disorder characterized by pontobulbar palsy and sensorineural deafness. Since its initial description in 1894, fewer than 100 cases have been reported, and published neuropathological analyses of these cases are extremely rare. Recently, individuals with BVVLS have been found to carry mutations in the C20orf54 gene, which encodes the human homolog for a rat riboflavin transporter.

Antibody response to the non-adjuvanted and adjuvanted influenza A H1N1/09 monovalent vaccines in renal transplant recipients.

Background: The 2009 pandemic influenza A (H1N1) virus spread rapidly throughout Brazil. Non-adjuvanted and the adjuvanted influenza A H1N1/09 monovalent vaccine were recommended as a single dose to persons at risk including renal transplant recipients (RTR). We analyzed the safety and the immune response of 2 influenza A H1N1/09 monovalent vaccines in RTR, and identified factors influencing the immune response.

Cryoglobulinemia in chronic hemodialysis patients.

Background: Renal failure patients submitted to chronic hemodialysis can present with cryoglobulinemia. There are few studies on cryoglobulins in chronic hemodialysis patients. The aim of the present study was to determine the prevalence and to identify the components of cryoglobulins in chronic hemodialysis patients.

Prednisone monotherapy induced remission in a group of patients with membranous lupus nephritis.

Unlabelled: The treatment of membranous lupus nephritis (MLN) is still controversial in the literature. We conducted a retrospective analysis of patients in two medical centers of São Paulo-Brazil in order to evaluate the clinical response in patients submitted to either a regimen with prednisone alone or to a double immunosuppressive regimen (prednisone plus cyclophosphamide or prednisone plus azathioprine).

Methods: MLN female patients were enrolled in this retrospective study conducted from February 1999 to June 2007.

Evaluation of neutrophilic activity in patients submitted to kidney transplantation.

Background: Cryoglobulinemia is frequent in renal transplant patients. The mononuclear and polymorphonuclear neutrophil (PMN) phagocytic systems are important for the clearance of cryoglobulin immune complexes. There might be a reduced phagocytic activity in transplant patients with cryoglobulinemia (CRYO+).

Association of the MCP-1 -2518 A/G polymorphism and no association of its receptor CCR2 -64 V/I polymorphism with lupus nephritis.

Objective: To evaluate whether the A/G polymorphism at position -2518 in the regulatory region of the monocyte chemoattractant protein-1 (MCP-1) or the V/I polymorphism at position -64 of the receptor, CCR2, are associated with lupus nephritis (LN) or any clinical characteristics of the disease or with renal survival in a patient population.

Methods: We selected 197 patients with lupus nephritis and 220 matched healthy controls for study. MCP-1 and CCR2 genotyping was performed by polymerase chain reaction.

Lymph node melanosis in a patient with metastatic melanoma of unknown primary.

Tumoral or nodular melanosis in the skin is considered a variation of completely regressed melanoma, presenting clinically as a suspicious pigmented papule or nodule. Microscopically, the lesion consists of a nodular accumulation of heavily pigmented melanophages in the dermis, staining positive for immunohistochemical markers of histiocytic lineage (CD68) and negative for those of melanocytic lineage (S100, HMB-45, Melan-A). This process is rarely described in lymph nodes.

Oral manifestation of cytomegalovirus associated with herpes simplex virus in renal transplant recipient.

We report a case of a renal transplant recipient who presented with oral lesions associated with cytomegalovirus (CMV) and herpes simplex virus (HSV). This female patient, who underwent a living donor renal transplant 26 months prior, presented with a painful buccal lesion after an episode of leukopenia. The search for CMV antigen was negative.

Paulista Registry of glomerulonephritis: 5-year data report.

Background: The Paulista Registry of Glomerulopathies was created in May 1999 and comprises several centres of São Paulo, the most populous Brazilian State, that concentrates people from all regions of the country who look for health care.

Methods: This report includes data from 2086 patients from Brazil submitted to renal biopsy due to the presumed diagnosis of glomerular diseases, registered prospectively since May 1999 until January 2005. Data were collected by the integrants of the 11 centres involved, utilizing a standardized questionnaire.

Cryoglobulinemia in kidney transplant recipients.

The aim of this study was to assess the presence of cryoglobulins, the constitution of the cryoprecipitate, as well as the possible etiology and clinical features in kidney transplant recipients. We excluded patients with clinical or laboratory evidence of autoimmune, liver or neoplasm disease, infections, blood transfusions or immunizations in the previous 3 months. Detection of cryoglobulins was obtained from the peripheral venous blood.