The Medical Genetics Center
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The Medical Genetics Center
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FOR IMMEDIATE RELEASE
Reviews of LiteratureBy Dr. Osama ZakiMay,31,2001 -- The following is a brief list of the most recent publications that came to our attention during the last months. To read the topics or their abstracts, just click the underlined link Ethical Issues With Genetic Testing in Pediatrics - Pediatrics Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enables testing and screening before the development of definitive treatment or preventive measures. In these circumstances, careful consideration must be given to testing and screening of children to ensure that use of this technology promotes the best interest of the child Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain - Journal of Pediatrics Of 59 Sephardic Jewish and Arab children in whom functional abdominal pain was diagnosed, we found that 20% were homozygote for the familial Mediterranean fever gene. Inclusion of genetic screening for familial Mediterranean fever may be advisable in the investigation of recurrent abdominal pain among children of Mediterranean extraction... Foot problems in Turner's syndrome - Journal of Pediatrics In a randomized, prospective study, data were collected on 23 girls with Turner's syndrome (TS) and an age- and sex-matched control group of 47 girls in order to document foot problems and to establish their cause. History revealed that 6 (26%) girls with TS had problems with ingrowing toenails compared with none of the control subjects. Compared with the control subjects, girls with TS showed a significantly increased incidence of short, broad feet; hyperextension of the great toes at the interphalangeal joint; toe nail involution; inflammation of the periungual tissues; and intermittent lymphedema Regulation of Gap Junctional Communication by a Pro-Inflammatory Cytokine in Cystic Fibrosis Transmembrane Conductance Regulator-Expressing but Not Cystic Fibrosis Airway Cells - American Journal of Pathology The aim of this study was to determine whether direct cell-cell interactions via gap junctional communication is affected during the inflammatory response of the airway epithelium. Conclusion: Gap junction channels close during the inflammatory response, therefore limiting the intercellular diffusion of signaling molecules, and thereby the recruitment of neighboring cells. Defects in this mechanism may contribute to the excessive inflammatory response of CF airway epithelium... Online medical genetics resources: a UK perspective - British Medical Journal Health professionals, patients, and the general public need authoritative, up to date information on genetics to enable them to understand and apply advances in this discipline. The immediacy and accessibility of the world wide web make it the perfect vehicle for this information. We have compiled a list of useful web resources from the perspective of users based in the United Kingdom... Online medical genetics resources: a US perspective - British Medical Journal Those who rely on genetic testing find it a challenge keeping up to date with information, particularly when guidelines for use lag behind the availability of tests. We looked critically at online resources relevant to geneticists, providers of primary care ... Personal Views: Value of genetic counselling: a parent's view - British Medical Journal When my daughter Kylie was born on a sunny June afternoon, I was delighted. She was a beautiful baby girl. Following emergency surgery after an earlier miscarriage, I had not been sure if I would ever have another baby, so this was a special time for the family. I noticed that her hands and feet were puffy and swollen. She was also a grey colour. I was told that this was because of poor circulation in the womb. During the first hours of her life the swelling got worse. A paediatrician said he wanted to do some tests... Smallest region of overlapping deletion in 1p36 in human neuroblastoma: A 1 Mbp cosmid and PAC contig - Genes, Chromosomes and Cancer On the basis of this study, they would be excluded as candidate genes for neuroblastoma tumorigenesis. Ten expressed sequence tags were integrated in the contig, of which five are located outside the SRO. The other five from within the SRO may provide an entrance point for the cloning of candidate genes for neuroblastoma...
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