Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.

Introduction: KIF1A, a gene that encodes a neuron-specific motor protein, plays important roles in cargo transport along neurites. Variants in KIF1A have been described in three different disorders, and neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment syndrome (NESCAVS) is the severest phenotype.

Case Report: A 3-year-old girl was born at term with a birth weight of 2590 g.

Immunohistochemical expression of myoepithelial markers in adenomyoepithelioma of the breast: a unique paradoxical staining pattern of high-molecular weight cytokeratins.

To determine which immunohistochemical markers are useful for the identification of neoplastic myoepithelial cells in adenomyoepithelioma of the breast, the expression of seven myoepithelial markers (α-smooth muscle actin (α-SMA), calponin, p63, CD10, cytokeratin 5/6, cytokeratin 14, and S-100) was examined in 19 lesions from 16 patients. The lesion consisted of seven spindle and 12 clear cell lesions. For normal myoepithelial cells, α-SMA, calponin, and p63 were significantly more sensitive than cytokeratin 5/6, cytokeratin 14, and S-100.

Gamma knife radiosurgery of brain metastasis from malignant pleural mesothelioma--report of three cases with autopsy study in a case.

The median survival time of malignant pleural mesothelioma (MPM) has been 9 months. Given the short survival, there have been only few cases in which brain metastases have been diagnosed and treated before death. Three cases of brain metastases treated by gamma knife radiosurgery (GKR) are reported.

Squamous cell components in a thyroid follicular adenoma: significant evidence of follicular cell origin by histomorphological, immunohistochemical and molecular analyses.

Squamous cells in the thyroid appear in a variety of conditions, including adenomatous goiters, malignant neoplasms, inflammatory diseases, and embryonic remnants. However the origin of the squamous cells is still under dispute. Here we report a case of an encapsulated follicular cell tumor consisting of follicular cells, basaloid squamous cells, and morphologically intermediate cells.

High incidence of colonic perforation during colonoscopy in hemodialysis patients with end-stage renal disease.

Background & Aims: Colonic perforation is a rare but life-threatening complication of colonoscopy. We evaluated the incidence of colonic perforation that resulted from colonoscopy in patients who underwent hemodialysis compared with those who did not have this procedure (controls).

Methods: Data from a total of 15,098 consecutive patients who underwent colonoscopy from January 2001 to December 2008 in Nagoya Kyoritsu Hospital were analyzed retrospectively.

IL-10 and RANTES are elevated in nasopharyngeal secretions of children with respiratory syncytial virus infection.

Background: Respiratory syncytial virus (RSV) infection causes asthma-like symptoms in infants and young children. Although an increase in several mediators in the airway during RSV infection has been reported, the mechanisms involved in airway inflammation are not fully understood. The aim of this study was to investigate the immunological deviation associated with airway inflammation by measuring cytokine and chemokine levels in the airway during RSV infection.