Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)

We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.     

WHS3菌株产几丁质酶对棉铃虫HaSNPV的增效作用

WHS3 (Serratia marcescens)菌是一株几丁质酶的高产菌株,在诱导培养基中几丁质 酶的产量可达84.4μg/mL.通过对中国棉铃虫进行的生物测定表明WHS3菌所产的几丁质酶 (A3)能有效地提高HaSNPV的毒力20%～70%, LT50、LT90比对照组缩短天数最高可达1.1d、1.3d.     

1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay,psychomotor impairment,epilepsy, impulsive behavior and asynchronous skeletal development

Several Wolf-Hirschhorn syndrome patients have been studied, mouse models for a few candidate genes have been constructed and two WHS critical regions have been postulated, but the molecular basis of the syndrome remains poorly understood.     

WHS3菌株产几丁质酶对棉铃虫HaSNPV的增效作用

WHS3（Serratia marcescens）菌是一株几丁质酶的高产菌株,在诱导培养基中几丁质酶的产量可达84.4μg/mL。通过对中国棉铃虫进行的生物测定有明：WHS3菌所产的几丁质酶（A3）能有效地提高HaSNPV的毒力20%-70%,LT50、LT90比对照组缩短天数量高可达1.1、1.3d。     

Pathophysiology of mitochondrial volume homeostasis: Potassium transport and permeability transition

Regulation of mitochondrial volume is a key issue in cellular pathophysiology. Mitochondrial volume and shape changes can occur following regulated fission-fusion events, which are modulated by a complex network of cytosolic and mitochondrial proteins; and through regulation of ion transport across the inner membrane. In this review we will cover mitochondrial volume homeostasis that depends on (i) monovalent cation transport across the inner membrane, a regulated process that couples electrophoretic K⁺ influx on K⁺ channels to K⁺ extrusion through the K⁺-H⁺ exchanger; (ii) the permeability transition, a loss of inner membrane permeability that may be instrumental in triggering cell death. Specific emphasis will be placed on molecular advances on the nature of the transport protein(s) involved, and/or on diseases that depend on mitochondrial volume dysregulation.     

Pediatric diagnosis not made until adulthood: A case of Wolf–Hirschhorn syndrome

Wolf–Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood.