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1.
Genet Test Mol Biomarkers ; 22(9): 568-573, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30183356

RESUMEN

BACKGROUND: Nonsyndromic cleft lip with/without cleft palate (nsCL ± P) is one of the most common birth defects of complex etiology, occurring in ∼1/700 live births worldwide. A series of epidemiological studies were conducted to investigate the association between a transforming growth factor alpha (TGFα) polymorphism and nsCL ± P risk. The aim of this study was to investigate the association between the TGFα/HinfI polymorphisms and nsCL ± P in Turkish patients. METHODS: One hundred fifty-five Turkish subjects were enrolled: 70 nsCL ± P patients and 85 unrelated control individuals. Genomic DNA was isolated from peripheral blood leukocytes, and molecular analysis of gene polymorphisms was carried out using polymerase chain reaction and restriction enzyme digestions. RESULTS: We found significant difference between the TGFα gene HinfI allele frequencies of the controls and: 1) the occurrence of nonsyndromic cleft lip (p = 0.029,); 2) the occurrence of nonsyndromic cleft lip and palate (nsCL + P) cases (p = 0.024; and 3) the occurrence of both nsCL ± nsCLP cases (p = 0.0365). The association between age of parents, gender, maternal exposures, socioeconomic status and clefts was assessed in each group separately. CONCLUSION: Our study indicates that the TGFα HinfI gene polymorphism might be associated with nsCL ± P susceptibility, thus contributing to the occurrence of nsCL ± P in Turkish patients. The relatively small sample size of our study is one limitation of our study, and future research with larger specimen sets from different ethnicities will be required to validate our findings.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Factor de Crecimiento Transformador alfa/genética , Adolescente , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Factor de Crecimiento Transformador alfa/metabolismo , Turquía
2.
World J Clin Cases ; 3(8): 751-6, 2015 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-26301237

RESUMEN

Cleidocranial dysplasia (CD) is an autosomal dominant syndrome which is characterized by several skeletal malformations such as non-closed fontanelles, skeletal abnormalities of the maxilla and mandible and absence of clavicles. Mid-facial hypoplasia and mandibular prognathism are mostly seen jaw abnormalities in CD. In this study, the combined orthodontic-surgical treatment of a patient with CD with class III malocclusion and multiple unerupted primary and deciduous teeth is presented.

3.
Int J Pediatr Otorhinolaryngol ; 77(7): 1143-6, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23725631

RESUMEN

OBJECTIVE: To investigate the association between MTHFR C677T polymorphism and Turkish patients with nonsyndromic cleft lip and/or palate (nsCL/P) and to determine the prevalence of the Turkish population. PATIENTS AND METHODS: Molecular analysis of gene polymorphisms were carried out using polymerase chain reactions and restriction enzyme digestions. In our study, 80 patients with nsCL/P and 125 unrelated individuals from Turkey were studied. RESULTS: We found that MTHFR C677T polymorphism is a significant risk factor for nsCL/P in Turkey (p=0.0004). These results support the impact of MTHFR C677T polymorphism and importance of folic acid intake in the etiology of nsCL/P. CONCLUSIONS: MTHFR gene which is localized in the relevant region of chromosome 1p36.3 not been studied Turkish patients with nsCL/P and the prevalence of our country not to be determined. We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Turquía
4.
Am J Orthod Dentofacial Orthop ; 123(2): 175-81, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12594424

RESUMEN

The objective of this study was to investigate the possibility of enhancing the clinical versatility of the panoramic radiograph, which is an indispensable tool for dental diagnosis. The material of this study consisted of lateral cephalograms and panoramic radiographs obtained from 30 patients. A correlation test was performed between the parametric measurements, and the predictability level of the cephalometric measurements from panoramic radiograms was determined by using regression equations. The equations showed that the Go-Gn/S-N, ANS-PNS/Go-Me (palatal plane/mandibular plane), and Co-Go/Go-Me parameters could be predicted from panoramic radiographs within statistically significant levels, and their predictability levels were 20.6%, 15.6%, and 11.2%, respectively. Statistically significant correlations and predictability levels were also determined for the cephalometric and corresponding panoramic parameters in which Frankfort horizontal plane was used. It can be concluded that even though panoramic radiographs provide information on the vertical dimensions of craniofacial structures, clinicians should be vigilant when predicting skeletal cephalometric parameters from panoramic radiographs, because of their lower predictability percentages.


Asunto(s)
Huesos Faciales/diagnóstico por imagen , Radiografía Panorámica , Adolescente , Cefalometría/estadística & datos numéricos , Niño , Mentón/diagnóstico por imagen , Femenino , Predicción , Humanos , Masculino , Mandíbula/diagnóstico por imagen , Análisis por Apareamiento , Maxilar/diagnóstico por imagen , Nariz/diagnóstico por imagen , Hueso Paladar/diagnóstico por imagen , Intensificación de Imagen Radiográfica , Radiografía Panorámica/estadística & datos numéricos , Análisis de Regresión , Reproducibilidad de los Resultados , Silla Turca/diagnóstico por imagen , Estadística como Asunto , Dimensión Vertical
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