Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with LGMD2A mapping to chromosome 15q15.1-q21.1. The gene encoding the muscle-specific calcium-activated neutral protease 3 (CANP3) large subunit is located in this region. This cysteine pro...

A 28 year old Caucasian male presented with an acute Guillain-Barré syndrome and bilateral facial weakness. He had an abnormal chest radiograph. Lumbar puncture revealed acellular fluid with a raised protein count and lung function tests showed a restrictive ventilatory defect. The patient deteriorated and required mechanical ventilation for 14 days. Steroids and plasmapheresis were not used an...

Rosen, F. S. : Hereditary splenic hypoplasia. PEDIATRICS, 42:752, 1968. 8. Alper, C. A., Abramson, N., Johnston, R. B., Jr., McCall, C. E., Jandl, J. H., and Rosen, F. S.: Increased susceptibility to infection associated with a defect of complement metabolism. J. Clin. Invest., 47: la, 1968. 9. Kretschmer, R., Janeway, C. A., and Rosen, F. S.: Immunologic amnesia. Pediat. Res., 2:7, 1968. 10. C...

We show that the Drosophila gene diaphanous is required for cytokinesis. Males homozygous for the dia1 mutation are sterile due to a defect in cytokinesis in the germline. Females trans-heterozygous for dia1 and a deficiency are sterile and lay eggs with defective eggshells; failure of cytokinesis is observed in the follicle cell layer. Null alleles are lethal. Death occurs at the onset of pupa...

SUMMARY In 2009, the Union for International Cancer Control defined lymph node (LN) metastasis ≥6 cm in diameter as stage 4 in squamous cell carcinoma of the skin. Lesions from such LNs become ulcerated and infected and bleed without treatment. A 67-year-old man suffered from skin cancer on his right back and a 7-cm-diameter LN metastasis. After axillary LN dissection, a large skin and soft tis...

The hip capsule has been identified as an important static stabilizer of the hip joint. Despite the intrinsic bony stability of the hip socket, the capsule plays a key role in hip stability, particularly at the extremes of motion, and the iliofemoral ligament is the most important stabilizer in extension and external rotation. Patients who do not undergo capsular closure or plication may contin...

First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition,...

Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malpo...

CONTEXT Matrix-induced autologous chondrocyte implantation (MACI) is an established technique for the repair of knee chondral defects. Despite the reported clinical improvement in knee pain and symptoms, little is known on the recovery of knee strength and its return to an appropriate level compared with the unaffected limb. OBJECTIVE To investigate the progression of isokinetic knee strength...

Total knee arthroplasty (TKA) often deal with bone defect localized in areas corresponding to tibial and femoral articular surfaces, a condition that is often observed in revision knee prosthetic surgery but occasionally in primary arthroplasty of the knee too. Such intraoperative situation, could create a main problem in maintaining proper alignment of the implant components and in establishin...