A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

Cerebral palsy has an incidence of approximately 1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for approximately 1%-2% of cases in most countries but contribute a larger proportion in populations with extensive inbreeding. We have clinically characterized consanguineous families with multiple children affected by symmetrical spastic cerebral palsy, to locate recessive genes responsible for this condition. The eight families studied were identified from databases of patients in different regions of the United Kingdom. After ascertainment and clinical assessment, we performed a genomewide search for linkage, using 290 polymorphic DNA markers. In three families, a region of homozygosity at chromosome 2q24-q25 was identified between the markers D2S124 and D2S148. The largest family gave a maximum LOD score of 3.0, by multipoint analysis (HOMOZ). The maximum combined multipoint LOD score for the three families was 5.75. The minimum region of homozygosity is approximately 5 cM between the markers D2S124 and D2S2284. We have shown that a proportion of autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. The identification of genes involved in the etiology of cerebral palsy may lead to improved management of this clinically intractable condition.     

Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene

Islet-brain 1 (IB1), a regulator of the pancreatic beta-cell function in the rat, is homologous to JIP-1, a murine inhibitor of c-Jun amino-terminal kinase (JNK). Whether IB1 and JIP-1 are present in humans was not known. We report the sequence of the 2133-bp human IB1 cDNA, the expression, structure, and fine-mapping of the human IB1 gene, and the characterization of an IB1 pseudogene. Human IB1 is 94% identical to rat IB1. The tissue-specific expression of IB1 in human is similar to that observed in rodent. The IB1 gene contains 12 exons and maps to chromosome 11 (11p11.2-p12), a region that is deleted in DEFECT-11 syndrome. Apart from an IB1 pseudogene on chromosome 17 (17q21), no additional IB1-related gene was found in the human genome. Our data indicate that the sequence and expression pattern of IB1 are highly conserved between rodent and human and provide the necessary tools to investigate whether IB1 is involved in human diseases.     

Nonulcerating bacterial keratitis associated with soft and rigid contact lens wear

Most patients in acute myocardial infarction (AMI) undergo emergent coronary angiography (CAG). However, when to analyze lipoprotein profiles in AMI is not clear. To determine whether lipoprotein profiles change during catheterization, we measured serum lipid and apolipoprotein concentrations in 65 patients (51 men and 14 women) before and after catheterization. Heparin was injected at 50 units/kg for CAG and 200 units/kg for percutaneous transluminal coronary angioplasty (PTCA). We found that cholesterol and triglyceride decreased by 9.4% (P < 0.001) and 53.1% (P < 0.001), respectively, after catheterization. Apolipoproteins also decreased significantly. Variables decreased two to five times more after PTCA than after CAG. Lipoprotein lipase mass was higher after PTCA (267.8 +/- 135.3 micrograms/L) than after CAG (93.3 +/- 48.4 micrograms/L; P < 0.05). In conclusion, lipoprotein profiles change during catheterization. We recommend avoiding analysis of lipoprotein profiles after emergent CAG in AMI.     

Standards for diagnosis and management of invasive breast carcinoma. American College of Radiology. American College of Surgeons. College of American Pathologists. Society of Surgical Oncology

Because knowledge has advanced in several fields related to the treatment of early breast cancer, revising the landmark 1992 standards for breast-conservation treatment by these four organizations is appropriate. The current report reviews and summarizes the literature and describes the selection and evaluation of patients, the technical aspects of surgical treatment and irradiation, follow-up care, and areas for further research.