Relationship of Genetic Variants in Coding Regions of thee Msx-1 gene to nonsyndromic cleft lip with or without cleft palate patients and controls

2003 ◽  
Vol 61 (8) ◽  
pp. 27-28
Author(s):  
King Kim ◽  
M. Gorry ◽  
L. Mary ◽  
M.L. Marazita ◽  
M. Michaelis ◽  
...  
2010 ◽  
Vol 88 (7) ◽  
pp. 538-545 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wojcicki ◽  
Barbara Biedziak ◽  
Patrycja Paradowska ◽  
...  

2001 ◽  
Vol 38 (1) ◽  
pp. 68-75 ◽  
Author(s):  
Tom Millard ◽  
Lynn C. Richman

Objective The purpose of this investigation was to study the adjustment and learning characteristics of children with different types of clefts. The hypotheses were that there may be different relationships among cleft variables (speech and appearance) according to the cleft types. Design The study compared three cleft groups on behavior rating, anxiety scales, depression scales, and self-perception (analyses of variance) and examined the influence of facial and speech ratings on self-perception (multiple regression analyses). Setting All patients were treated at a university hospital cleft palate clinic. Patients Sixty-five children aged 8 years to 17 years were selected based on nonsyndromic cleft (unilateral cleft lip and palate [ULP], bilateral cleft lip and palate [BLP], and cleft palate only [CPO]) and no significant neurological condition or hearing loss. Results The findings indicated children with CPO showed greater problems with parent- and teacher-reported depression, anxiety, and learning related to speech than children with ULP or BLP. The later two groups showed fewer problems and a greater relationship of problem to facial appearance. The children with ULP self-reported lower levels of depression than the other two groups. Conclusions Children with cleft show relatively good overall adjustment, but some problems appear related to speech and facial appearance. Subgroups may need to be studied separately.


2014 ◽  
Vol 100 (9) ◽  
pp. 670-678 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wójcicki ◽  
Daria Galas-Filipowicz ◽  
Agnieszka Lasota ◽  
...  

2020 ◽  
Author(s):  
Carlos Salamanca ◽  
Patricio González-Hormazábal ◽  
Andrea S. Recabarren ◽  
Pamela A. Recabarren ◽  
Roberto Pantoja ◽  
...  

2021 ◽  
pp. 105566562110528
Author(s):  
Bin Yin ◽  
Jia-Yu Shi ◽  
Bing Shi ◽  
Qian Zheng ◽  
Zhong-Lin Jia

Objectives Non-syndromic cleft lip with or without cleft palate (NSCL ±  P) is one of the most common birth malformations. Currently, numerous susceptibility SNPs have been reported by GWA studies, however, the replications of them among NSCL ±  P from Han Chinese were very limited. Design In this study, we selected 16 SNPs around 1q32.2 based on the published GWA studies and replicated them among 302 trios with NSCL ±  P from Han Chinese Population. The genotypic data was analyzed with FBAT, PLINK and R package. Setting The study was conducted in a tertiary medical center. Patients, participants 302 patients with CL ±  P and their parents. Main outcome measures To ascertain the genetic variants in 1q32.2 in patients with CL ±  P in Han Chinese Population. Interventions Blood samples were collected. Results We found T allele ( Z = 4.26, p = 0.00002) and T/T homozygotes ( Z = 4.4, p = 0.000011) at rs12063989 was significantly over-transmitted among non-syndromic cleft lip with or without cleft palate (NSCL ±  P). Conclusions We found rs12063989 exhibited significant association with the occurrence of NSCL ±  P, which would provide new evidence for the future study in the etiology of NSCL ±  P.


2016 ◽  
Vol 21 (4) ◽  
pp. 262
Author(s):  
Saira Afzal ◽  
Mustehsan Bashir ◽  
Muhammad Arif Khan ◽  
Javaria Tehzeeb ◽  
Anum Manzoor ◽  
...  

AbstractOral clefts are divided into cleft lip, cleft palate and cleft lip along with cleft palate. Cleft palate is defined as an inability of palatal shelves to approximate and close during the first months of embryogenic period thus leaving an opening in the roof of the mouth and forming communication between the nasal and oral cavities.Objective:To determine the relationship of risk of oral clefts with parental health and social support.Study Design: Case Control Study.Study Setting and Duration:Various hospitals in Lahore and 3 month duration.Materials and Methods:A Case Control Study was conducted. A total of 100 subjects (50 cases, 50 controls) were included. Sampling was done by purposive method. Data was collected with the help of Cornell Medical Index Health Questionnaire and Social Support Questionnaire after taking their informed consent. Data was analyzed by using SPSS version 20.0. Mean and standard deviation were used to describe quantitative variables like age. Test of significance were applied.Results:56% of cases were females and 44% were males. Mean age of mothers was 27 and fathers was 31. Most mothers were uneducated (36%) while most fathers were educated till matric (34%). Income of most parents was in the range of 10,000-20,000 PKR (44%). 24% of controls were females and 76% were males. The associations of oral cleft was found significant with parental respiratory, cardiovascular, gastro-intestinal, musculoskeletal, skin-related, genitourinary health, easy fatigability, health habits, anxiety, anger, paternal nervous system health, sensitivity, and mater-nal frequency of illness, depression and feeling of inadequacy (p < 0.05). Maternal social support catego-ries indicated that cases were less supported than con-trols: number of persons available and level of satisfaction (p < 0.05).Conclusion:Oral clefts have a multi-factorial etio-logy. Hence, an effective preventive program should take into account parental health and social support factors.Key Words:Non-syndromic Oral Clefts, Parental Health, Social Support.


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