journal article

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The Orthopaedic Section of the American Physical Therapy Association (APTA) has created evidence-based practice guidelines for orthopaedic physical therapy management of patients with musculoskeletal impairments, including low back pain.
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American Geriatrics Society guidelines on pharmacological management of persistant pain in older persons
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A journal article about the BRCA 2 Gene. The article details cloning, gene structure, mapping, gene function, role in DNA repair, and molecular genetics.
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Presents the recommendations of the Pedigree Standardization Task Force (PSTF) for standard human pedigree nomenclature and symbols. Full article is available.
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Congenital spherocytic anemia is a common disorder, but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spherocytosis whereas both parents and two unaffected siblings were normal. The two affected children had an abnormal chromosomal complement as a result of a deletion of the short arm of chromosome 8 [(46,XX,del(8)(p11.1p21.1)]. These results suggest that a gene whose deletion results in a congenital spherocytic anemia phenotype resides on this region on the short arm of chromosome 8.
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The clinical manifestations and cytogenetic details of five patients with a de novo deletion of the short arm of chromosome 8, del(8)(p23), are described. Of the four surviving children all had mild mental retardation and subtle facial anomalies; three of the five had cardiac abnormalities. The clinical features seen in these patients are compared with those of three previous single case reports with del(8)(p23), and with patients described as having the '8p-' syndrome associated with del(8)(p21). The findings in these patients suggest that major congenital anomalies, especially congenital heart defects, are frequent even in small distal 8p deletions, but facial dysmorphism may be subtle and mental retardation less severe than in those with deletions associated with more proximal breakpoints. The five patients were detected within a four year period, suggesting that this deletion syndrome is relatively frequent. The possible mechanisms for the formation of terminal deletions are discussed.
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Guidelines for physicians in order to assure (1) Assuring an accurate diagnosis of autism before proceeding with any investigation. (2) Discussing testing options, diagnostic yields, and patient investment before proceeding with an evaluation. (3) Communication and coordination with the patient's medical home. (4) Assessing the continuously expanding and evolving list of available laboratory testing modalities in light of evidence-based medicine. (5) Recognizing expanded phenotypes of well-described syndromic and metabolic conditions that encompass autism spectrum disorders. (6) Defining an individualized evaluation scheme based on the unique history and clinical features of a given patient.
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Genetics in Medicine
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This article discusses mitochondrial cytopathies in depth, including diagnosis and clinical features.
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Cleveland Clinic Journal of Medicine
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This Web page, from the Mayo Clinic, provides guidance for patients about what to include in a family history, basic pedigree construction (not consistent with Bennett et al., 1995), limitations of the family history, and how to approach family members. It also includes a very basic form with columns for "blood relative" and "health conditions."
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Mayo Clinic
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