Complex regional pain syndrome associated with hyperattention rather than neglect for the healthy side: A comprehensive case study.

Complex regional pain syndrome (CRPS) is a dehabilitating chronic condition occurring with peripheral lesions. There is growing consensus for a central contribution to CRPS. Although the nature of this central body representation disorder is increasingly debated, it has been repeatedly argued that CRPS results in motor neglect of the affected side.

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized.

Acrogeria of the Gottron type in a mother and son.

We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type III, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.

Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs. Therefore, we developed a protocol whereby 43 exon and exon flanking sequences of the COL1A1 gene can be amplified by PCR and scanned for mutations by denaturing gradient gel electrophoresis.

Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

The Marfan syndrome (MFS) is a connective tissue disorder manifested by variable and pleiotropic features in the skeletal, ocular, and cardiovascular systems. The average life span in MFS is about 35 years. A group with much more severe cardiovascular disease and a mean life span of approximately 1 year also exists.

Fibrillin immunofluorescence in pseudoxanthoma elasticum.

Background: Pseudoxanthoma elasticum (PXE) is a rare heritable connective tissue disorder manifested by skin, ocular, and cardiovascular anomalies. The basic defect is unknown; however, the microscopic findings are indicative of defects in elastic fibers. Among the components of the elastic fibers are elastin and elastin-associated microfibrils.

Lack of linkage of apparently dominant cleft lip (palate) to two candidate chromosomal regions.

Two regions were chosen for linkage studies to cleft lip with or without cleft palate (CL[P]) because they are break points of a balanced translocation in a patient with severe bilateral facial clefting. We used dinucleotide repeats to test chromosomal regions 1q21 and 22q11.2 for such linkage.

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue. Variable and pleiotropic clinical features are observed in the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum of this disorder comprises a group of patients usually diagnosed at birth, who have a life expectancy of little more than a year.

The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group.

The total prevalence rate of tracheo-oesophageal fistula and oesophageal atresia in 15 EUROCAT registries covering 1,546,889 births during 1980-8 was 2.86 per 10,000. There was a decreasing prevalence rate over time (3.

The contribution of 99mTc-pyrophosphate tomoscintigraphy in the evaluation of necrotic myocardial lesions.

Diagnostic contribution of Conventional Planar Scintigraphy (CPSc) and Single Photon Emission Computed Tomoscintigraphy (SPECT), using 99mTc-Pyrophosphate (99mTc-PYP), have been compared in 49 patients with either transmural (T.I., N = 40), or non-transmural (N.