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lip pitt

K Takano, M Lyons, C Moyes, J Jones, C E Schwartz
The TCF4 gene encodes a basic helix-loop-helix (bHLH) transcription factor which belongs to the family of E-proteins. E-proteins form homo- and heterodimers with other members of the HLH family and bind to the common DNA sequence called E-box. Haploinsufficiency of the TCF4 gene has been found to be associated with the Pitt-Hopkins syndrome (PTHS). PTHS is characterized by severe mental retardation, a wide mouth plus other distinctive facial features (fleshy lips, beaked nose, broad nasal bridge) and breathing abnormalities...
September 2010: Clinical Genetics
Zenichiro Kato, Wataru Morimoto, Takeshi Kimura, Akihiro Matsushima, Naomi Kondo
BACKGROUND: Interstitial deletion of chromosome 18q is rare, making it difficult to assign phenotypes to particular cytogenetic deletions. CASE: We present an 18-year-old female with an interstitial deletion of chromosome 18q21.2-q21.33. The clinical features included severe psychomotor retardation with mild growth retardation, hypotonia, midfacial hypoplasia, carp-shaped mouth, hypertelorism, strabismus, narrow upward slant palpebral fissures, short philtrum, everted lower lip, malformed ears, flat nasal bridge, and epicanthic folds...
February 2010: Birth Defects Research. Part A, Clinical and Molecular Teratology
Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michele Mathieu-Dramard, Gilles Morin, Dominique Martin-Coignard, Christèle Dubourg, Brigitte Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla
Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips). PHS was shown to be caused by de novo heterozygous mutations of the TCF4 gene, located in 18q21. We selected for this study 30 unrelated patients whose phenotype overlapped PHS but which had been initially addressed for Angelman, Mowat-Wilson, or Rett syndromes. In 10 patients we identified nine novel mutations (four large cryptic deletions, including one in mosaic, and five small deletions), and a recurrent one...
November 2008: Human Mutation
LanJun Guo, Paul Jasiukaitis, Lawrence H Pitts, Steven W Cheung
OBJECTIVE: To analyze optimal placement of recording-needle electrodes surrounding the eye and lip for facial nerve monitoring by identifying the maximum compound muscle action potential (CMAP) recorded by electrode pairs of different spatial configurations. STUDY DESIGN: Prospective clinical trial. SETTING: Ambulatory surgery at a tertiary care center. PATIENTS: Thirty adults undergoing chronic ear surgery such as tympanoplasty, mastoidectomy, ossicular chain reconstruction, stapedectomy, and cochlear implantation...
August 2008: Otology & Neurotology
Adriano Flora, Jesus J Garcia, Christina Thaller, Huda Y Zoghbi
Proneural factors represent <10 transcriptional regulators required for specifying all of the different neurons of the mammalian nervous system. The mechanisms by which such a small number of factors creates this diversity are still unknown. We propose that proteins interacting with proneural factors confer such specificity. To test this hypothesis we isolated proteins that interact with Math1, a proneural transcription factor essential for the establishment of a neural progenitor population (rhombic lip) that gives rise to multiple hindbrain structures and identified the E-protein Tcf4...
September 25, 2007: Proceedings of the National Academy of Sciences of the United States of America
Maarit M Peippo, Kalle O J Simola, Leena K Valanne, Andreo T Larsen, Marketta Kähkönen, Mari P Auranen, Jaakko Ignatius
Pitt-Hopkins syndrome is a rare dysmorphic mental retardation syndrome marked by daytime spells of overbreathing interrupted by apnoea. The dysmorphism consists of a large beaked nose, cup-shaped ears with broad helices, a wide mouth, Cupid's bow upper lip, wide and shallow palate and broad or clubbed fingertips. The four patients described so far have been sporadic and represented both sexes. In addition, a pair of sibs with atypical features has been reported as possible Pitt-Hopkins syndrome cases. We describe two unrelated Pitt-Hopkins syndrome patients in order to further define the phenotype...
April 2006: Clinical Dysmorphology
H A Singh
A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins. Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad-beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features...
April 1993: Journal of Paediatrics and Child Health
W Pitts, K Pickrell, G Quinn, R Massengill
No abstract text is available yet for this article.
November 1969: Plastic and Reconstructive Surgery
W A Andiman, R Eastman, K Martin, B Z Katz, A Rubinstein, J Pitt, S Pahwa, G Miller
Two types of lymphoproliferative disease associated with Epstein-Barr viral (EBV) DNA--central-nervous-system lymphoma and chronic lymphocytic interstitial pneumonitis (LIP)--were recognised in children with human T-lymphotropic virus type III/lymphadenopathy virus infection and the acquired immunodeficiency syndrome (AIDS). Eight of ten lung biopsy specimens from children with LIP contained EBV DNA. EBV DNA was not identified in lung biopsy specimens with Pneumocystis carinii, cytomegalovirus, or atypical mycobacteria but without LIP, nor was EBV found in lung biopsy specimens from five adults with AIDS...
December 21, 1985: Lancet
J Pitt
Lymphocytic interstitial pneumonia is at present a pathologic diagnosis. In the setting of a chronic interstitial pneumonia in a child with lymphocytosis, hyperglobulinemia, and lymphadenopathy or parotid enlargement, the diagnosis is often clinically presumed. At present the diagnosis can be established firmly only by lung biopsy. Models of pathogenesis include nonspecific stimulation of the immune system, HIV-specific stimulation, or synergy between EBV and HIV. Treatment includes oxygen and bronchodilators as needed...
February 1991: Pediatric Clinics of North America
M Pitt, T T Ingram
No abstract text is available yet for this article.
April 1975: Radiography
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