Vitamin A-Enhanced Cleft Palate Susceptibility Gene Maps between C4 and B144 within the H-2 Complex

Excessive intake of vitamin A during pregnancy in the rat results in a marked litter failure. However, when litters are carried to term a variety of gross congenital anomalies are produced which include: encephaly, eye malformations, cleft palate, shortening of the mandible and maxilla, spina bifida with meningocele and hydrocephalus. Of 148 offspring of vitamin A-fed maternal rats, 77 exhibited gross malformations (an anomaly rate of 52%). There were no congenital anomalies observed in 1201 control young. The 7th to 10th day of gestation was found to be the period critically susceptible to the teratogenic effect of vitamin A excess. The stage specificity of various environmental agents and the possible mechanism of action of the teratogenic effect of maternal vitamin A excess are discussed.

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Locus controlling Bordetella pertussis-induced histamine sensitization (Bphs), an autoimmune disease-susceptibility gene, maps distal to T-cell receptor beta-chain gene on mouse chromosome 6.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.90.8.3700 ◽

1993 ◽

Vol 90 (8) ◽

pp. 3700-3704 ◽

Cited By ~ 50

Author(s):

J. D. Sudweeks ◽

J. A. Todd ◽

E. P. Blankenhorn ◽

B. B. Wardell ◽

S. R. Woodward ◽

...

Keyword(s):

T Cell Receptor ◽

Disease Susceptibility ◽

Susceptibility Gene ◽

Cell Receptor ◽

Chain Gene ◽

Chromosome 6 ◽

T Cell Receptor Beta ◽

Disease Susceptibility Gene ◽

Gene Maps ◽

Receptor Beta

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Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Genes ◽

10.3390/genes10121023 ◽

2019 ◽

Vol 10 (12) ◽

pp. 1023 ◽

Cited By ~ 3

Author(s):

Iris ALM van Rooij ◽

Kerstin U Ludwig ◽

Julia Welzenbach ◽

Nina Ishorst ◽

Michelle Thonissen ◽

...

Keyword(s):

Cleft Palate ◽

Association Study ◽

Cleft Lip ◽

Genome Wide Association Study ◽

Susceptibility Gene ◽

Small Sample ◽

Genome Wide Association ◽

P Value ◽

Genome Wide ◽

A Genome

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (p-value of the lead SNV: 4.17 × 10−7). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology.

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Excess vitamin A intake during pregnancy as a possible cause of congenital cleft palate in puppies and kittens

Veterinary Record ◽

10.1136/vr.d4614 ◽

2011 ◽

Vol 169 (4) ◽

pp. 107-107 ◽

Cited By ~ 5

Author(s):

M. Davies

Keyword(s):

Vitamin A ◽

Cleft Palate ◽

Congenital Cleft ◽

Possible Cause

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The Morphology of Vacuolated Cells in the Liver Following Administration of Vitamin A.

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100072484 ◽

1973 ◽

Vol 31 ◽

pp. 408-409

Author(s):

Odell T. Minick ◽

Hidejiro Yokoo ◽

Fawzia Batti

Keyword(s):

Electron Microscopy ◽

Body Weight ◽

Vitamin A ◽

Light And Electron Microscopy ◽

Liver Cells ◽

Prominent Feature ◽

Vascular Space ◽

Vacuolated Cell ◽

Vacuolated Cells ◽

Vacuolated Cytoplasm

Vacuolated cells in the liver of young rats were studied by light and electron microscopy following the administration of vitamin A (200 units per gram of body weight). Their characteristics were compared with similar cells found in untreated animals.In rats given vitamin A, cells with vacuolated cytoplasm were a prominent feature. These cells were found mostly in a perisinusoidal location, although some appeared to be in between liver cells (Fig. 1). Electron microscopy confirmed their location in Disse's space adjacent to the sinusoid and in recesses between liver cells. Some appeared to be bordering the lumen of the sinusoid, but careful observation usually revealed a tenuous endothelial process separating the vacuolated cell from the vascular space. In appropriate sections, fenestrations in the thin endothelial processes were noted (Fig. 2, arrow).

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The Effect of Vitamin A on the Intermittent Nitrogen Dioxide Gas Exposure in Hamsters

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100090865 ◽

1976 ◽

Vol 34 ◽

pp. 176-177

Author(s):

J.C.S. Kim ◽

M.G. Jourden ◽

E.S. Carlisle

Keyword(s):

Electron Microscopy ◽

Vitamin A ◽

Nitrogen Dioxide ◽

Chronic Exposure ◽

Light And Electron Microscopy ◽

Specific Effect ◽

Deficient Diet ◽

Intermittent Exposure ◽

Hypovitaminosis A ◽

Gas Exposure

Chronic exposure to nitrogen dioxide in rodents has shown that injury reaches a maximum after 24 hours, and a reparative adaptive phase follows (1). Damage occurring in the terminal bronchioles and proximal portions of the alveolar ducts in rats has been extensively studied by both light and electron microscopy (1).The present study was undertaken to compare the response of lung tissue to intermittent exposure to 10 ppm of nitrogen dioxide gas for 4 hours per week, while the hamsters were on a vitamin A deficient diet. Ultrastructural observations made from lung tissues obtained from non-gas exposed, hypovitaminosis A animals and gas exposed animals fed a regular commercially prepared diet have been compared to elucidate the specific effect of vitamin A on nitrogen dioxide gas exposure. The interaction occurring between vitamin A and nitrogen dioxide gas has not previously been investigated.

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Classroom Teacher and Speech Clinician Severity Ratings of Different Speech Disorders

Language Speech and Hearing Services in Schools ◽

10.1044/0161-1461.0603.119 ◽

1975 ◽

Vol 6 (3) ◽

pp. 119-124 ◽

Cited By ~ 3

Author(s):

Robert T. Wertz ◽

Michael D. Mead

Keyword(s):

Public School ◽

Cleft Palate ◽

Classroom Teacher ◽

First Grade ◽

Speech Disorders ◽

Third Grade ◽

Second Grade ◽

Classroom Teachers

Typical examples of four different speech disorders—voice, cleft palate, articulation, and stuttering—were ranked for severity by kindergarten, first-grade, second-grade, and third-grade teachers and by public school speech clinicians. Results indicated that classroom teachers, as a group, moderately agreed with speech clinicians regarding the severity of different speech disorders, and classroom teachers displayed significantly more agreement among themselves than did the speech clinicians.

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Holistic Communication Assessment for Young Children With Cleft Palate Using the International Classification of Functioning, Disability and Health:Children and Youth

Language Speech and Hearing Services in Schools ◽

10.1044/2020_lshss-19-00122 ◽

2020 ◽

Vol 51 (4) ◽

pp. 914-938

Author(s):

Anna Cronin ◽

Sharynne McLeod ◽

Sarah Verdon

Keyword(s):

Young Children ◽

Cleft Palate ◽

Case History ◽

Significant Others ◽

International Classification ◽

Assessment Tools ◽

International Classification Of Functioning ◽

Speech Language Pathologists ◽

Holistic Assessment

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007 ) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices.

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