Novel association of multiple gastrointestinal anomalies in a single patient: Can Sonic Hedgehog explain it?
Summary of "Novel association of multiple gastrointestinal anomalies in a single patient: Can Sonic Hedgehog explain it?"
The occurrence of four gastrointestinal (GIT) anomalies in a single patient is extremely rare. Only one report of four GIT anomalies in a child has been published in the English literature. The current report presents a child with four anomalies and discusses the molecular mechanisms which control the development of the gastrointestinal tract.
Affiliation
Department of Pediatric Surgery, Advanced Pediatric Center and Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Journal Details
This article was published in the following journal.
Name: Congenital anomalies
ISSN: 1741-4520
Pages: 62-3
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22348785
- DOI: http://dx.doi.org/10.1111/j.1741-4520.2011.00320.x
Medical and Biotech [MESH] Definitions
Polypharmacy
The use of multiple drugs administered to the same patient, most commonly seen in elderly patients. It includes also the administration of excessive medication. Since in the United States most drugs are dispensed as single-agent formulations, polypharmacy, though using many drugs administered to the same patient, must be differentiated from DRUG COMBINATIONS, single preparations containing two or more drugs as a fixed dose, and from DRUG THERAPY, COMBINATION, two or more drugs administered separately for a combined effect. (From Segen, Dictionary of Modern Medicine, 1992)
Hamartoma Syndrome, Multiple
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Genetic Pleiotropy
A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)
Tomography, Emission-computed, Single-photon
A method of computed tomography that uses radionuclides which emit a single photon of a given energy. The camera is rotated 180 or 360 degrees around the patient to capture images at multiple positions along the arc. The computer is then used to reconstruct the transaxial, sagittal, and coronal images from the 3-dimensional distribution of radionuclides in the organ. The advantages of SPECT are that it can be used to observe biochemical and physiological processes as well as size and volume of the organ. The disadvantage is that, unlike positron-emission tomography where the positron-electron annihilation results in the emission of 2 photons at 180 degrees from each other, SPECT requires physical collimation to line up the photons, which results in the loss of many available photons and hence degrades the image.
Multicenter Studies As Topic
Controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children.
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