The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal ...

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes E...

The production of rod outer segment material and its fate in the retina of the dystrophic rat was studied by autoradiographic technique. The pigment epithelium of the dystrophic rat shows an inability to remove its rod outer segment material. By 36 days of age, photoreceptor outer segment production in the dystrophic rat gradually ceases, although uptake of amino acids by the inner segment stil...

Cumulative evidence indicates that there is an increased accumulation of calcium in dystrophic muscle and that this may have a pathophysiological role in the progression of the dystrophic process. The accumulation may be related to a defect of the plasma membrane. Because parathyroid hormone (PTH) stimulates calcium influx into the cytosol, the chronic effects of surgical ablation of the parath...

I. The Knoop test of hardness of materials has been used to test the hardness of human nail. 2. The range of hardness of nails was found to be small in healthy persons and large in malnourished children. 3. Nails from malnourished children were in general much harder than those from healthy persons. The nails of a small group of three children became softer while they were recovering from malnu...

BACKGROUND Despite that a mid-third simple transverse femoral shaft fracture has been traditionally treated with an unlocked reamed intramedullary nail, recently a static locked reamed intramedullary nail has been favored by some orthopedists to avoid missing extended fracture lines. A prospective comparison of both nails was conducted to investigate the superiority between the nails from biome...

This study systematically reviews the evidence-base for the use of expandable nails in the treatment of acute diaphyseal fractures of the lower limb. Both electronic and hand searches were undertaken of the published and grey literature to 1 December 2011. A total of 154 citations were identified, of which 15 were deemed suitable and assessed with the Critical Appraisals Skills Programme tool. ...

of diaphyseal long bone fractures. Interlocking nails have transverse cannulations that accommodate transcortical screws, allowing surgeons to firmly fix the rod within the medullary canal, thereby effectively neutralizing bending, rotational, and axial forces that act on fractures. Interlocking nails have become increasingly To counter axial and rotational forces, intramedullary nails were dev...