Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Surgeons are frequently called upon to place central venous catheters for various purposes. With the increasing used of central vein hyperalimentation, these catheters have become quite widely used. Often, critically ill patients require simultaneous infusions of vasopressors, fluids, blood and/or blood products, and hyperalimentation. In patients who have had peripheral intravenous catheters indwelling for long periods, often no peripheral access routes are available. Central venipuncture carries a definite risk of pneumothorax, hemothorax, and arterial puncture. The technique presented here allows the placement of multiple centra venous catheters via a single venipuncture. Each catheter is a completely separate venous conduit and may be used to infuse any number of substances alone or concurrently with others. Materials needed for this technique are: One 18-gauge Thinwall needle Two 20-cc Luer tip syringes Two 16-gauge 8" or 12" intravenous catheters* Two separate bags of infusion fluids and tubings One bottle 1% xylocaine Two .035" floppy end spring guidewires, 40 cm long One 8 French percutaneous dilator-introducer kit One 11 knife blade One mosquito curved hemostat Sterile towels, gauze sponges, sutures of choice, antiseptic *(This equipment is required for the placement of only two catheters).
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PMID:A single venipuncture technique for placement of multiple central venous catheters. 685 77

Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized simple terminal deletions, derivative chromosomes, interstitial deletions, and complex rearrangements. These rearrangements result in the specific pattern of malformation and neurodevelopmental disabilities that characterizes monosomy 1p36 syndrome. Thus far, no individual gene within this region has been conclusively determined to be causative of any component of the phenotype. Nor is it known if the rearrangements convey phenotypes via a haploinsufficiency mechanism or through a position effect. We have used multiplex ligation-dependent probe amplification to screen for deletions of 1p36 in a group of 154 hyperphagic and overweight/obese, PWS negative individuals, and in a separate group of 83 patients initially sent to investigate a variety of other conditions. The strategy allowed the identification and delineation of rearrangements in nine subjects with a wide spectrum of clinical presentations. Our work reinforces the association of monosomy 1p36 and obesity and hyperphagia, and further suggests that these features may be associated with non-classical manifestations of this disorder in addition to a submicroscopic deletion of approximately 2-3 Mb in size. Multiplex ligation probe amplification using the monosomy 1p36 syndrome-specific kit coupled to the subtelomeric kit is an effective approach to identify and delineate rearrangements at 1p36.
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PMID:Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. 2003

Prader-Willi syndrome (PWS), is a complex genetic disease affecting 1/15,000 individuals, characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, and morbid obesity. Despite significant advances in genetic testing, the mean age for diagnosis in PWS continues to lag behind. Our goal was to perform a pilot feasibility study to confirm the diagnosis utilizing different genetic technologies in a cohort of 34 individuals with genetically confirmed PWS and 16 healthy controls from blood samples spotted and stored on newborn screening (NBS) filter paper cards. DNA was isolated from NBS cards, and PWS testing performed using DNA methylation-specific PCR (mPCR) and the methylation specific-multiplex ligation dependent probe amplification (MS-MLPA) chromosome 15 probe kit followed by DNA fragment analysis for methylation and copy number status. DNA extraction was successful in 30 of 34 PWS patients and 16 controls. PWS methylation testing was able to correctly identify all PWS patients and MS-MLPA was able to differentiate between 15q11-q13 deletion and non-deletion status and correctly identify deletion subtype (i.e., larger Type I or smaller Type II). mPCR can be used to diagnose PWS and MS-MLPA testing to determine both methylation status as well as the type of deletion or non-deletion status from DNA extracted from NBS filter paper. We propose that PWS testing in newborns is possible and could be included in the Recommended Uniform Screening Panel after establishing a validated cost-effective method.
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PMID:Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. 3055 41