Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome.

Alport syndrome (AS) is the most common form of hereditary nephritis. Females with X-linked AS are heterozygous carriers of the disease mutation. Carrier status in females without a family history has traditionally been diagnosed by kidney biopsy; more recently skin biopsy has been utilized.

Persistent pulmonary hypertension of newborn due to congenital capillary alveolar dysplasia.

Congenital alveolar capillary dysplasia is a rare and fatal cause of pulmonary hypertension in neonates. We report on a term baby with severe pulmonary hypertension unresponsive to high-frequency ventilation and nitric oxide. A diagnosis of alveolar capillary dysplasia was established on autopsy.

Small cell astrocytoma: an aggressive variant that is clinicopathologically and genetically distinct from anaplastic oligodendroglioma.

Background: Small cell glioblastoma (GBM) is a variant with monomorphous, deceptively bland nuclei that often is misdiagnosed as anaplastic oligodendroglioma.

Methods: To elucidate its clinicopathologic and genetic features, the authors studied 71 adult patients (median age, 57 years), including 22 patients who were identified from a set of 229 GBMs (10%) that had been characterized previously by epidermal growth factor receptor (EGFR)/EGFR-vIII variant immunohistochemistry. Tumors also were analyzed by fluorescence in situ hybridization for 1p, 19q, 10q, and EGFR copy numbers.

Crooke's cell adenoma of the pituitary: an aggressive variant of corticotroph adenoma.

Cushing's disease is caused by functional corticotroph adenomas of the pituitary, mostly noninvasive microadenomas. Classic Crooke's cells are nonneoplastic corticotrophs with cytoplasmic accumulation of cytokeratin filaments in response to glucocorticoid excess. Corticotroph adenomas exhibiting Crooke's change are rare and incompletely understood.

Foot deformities: biomechanical and pathomechanical changes associated with aging, Part I.

This article reviews the most common foot deformities and pedal pathomechanical conditions that often result in pain and disability in the elderly. A description of the deformity or condition, its etiology, presenting symptoms, and various nonsurgical approaches to treatment are explored. The primary goal in all cases is to maintain or improve the patient's ability for comfortable, independent ambulation.

Primary anaplastic large cell lymphoma of the central nervous system: prognostic effect of ALK-1 expression.

Anaplastic large cell lymphoma (ALCL) rarely occurs in the central nervous system. Although defined by its composition of large, pleomorphic, CD30-positive lymphocytes, ALCL is heterogeneous. Most are T cell but some are null cell.

Heterotopic ossification of peripheral nerve ("neuritis ossificans"): report of two cases.

Objective And Importance: Heterotopic ossification ("neuritis ossificans") is among the least frequently encountered reactive lesions in peripheral nerves. Only two cases have been described previously, one in the median nerve of a 34-year-old man, and the other in the ulnar nerve of an adult woman. The architecture of this lesion is distinctly zonal.