RESUMEN
BACKGROUND: Hypospadias is a congenital malformation with both environmental factors and genetic predisposition involved in the pathogenesis. The role of maternal periconceptional folic acid supplement use in the development of hypospadias is unclear. As folate levels may also be influenced by the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, we hypothesize that a gene-environment interaction between this polymorphism and folic acid use is involved in the etiology of hypospadias. METHODS: We conducted a case-control study among 855 hypospadias cases and 713 population-based controls from the AGORA data- and biobank. Folic acid supplement use was derived from maternal questionnaires and infant and maternal DNA was used to determine the MTHFR C677T polymorphism using Taqman assays. We performed separate analyses for different hypospadias phenotypes (anterior/middle/posterior). RESULTS: Hypospadias was neither associated with folic acid use or the MTHFR C677T polymorphism, nor with their interaction. However, we did find an association with middle hypospadias when no supplements were used (odds ratio = 1.6; 95% confidence interval, 1.1-2.4), especially in infants carrying the CT/TT genotype (odds ratio = 2.5; 95% confidence interval, 1.4-4.7). In addition, more infants with these genotypes seemed to have posterior hypospadias, regardless of folic acid use. CONCLUSION: Our study does not suggest a major role for folic acid supplements or the MTHFR C677T polymorphism in the etiology of hypospadias in general, but not using folic acid and/or carrying the MTHFR C677T polymorphism may be associated with middle and posterior hypospadias. Therefore, we stress the importance of studying gene-environment interactions preferably in stratified analyses for different hypospadias phenotypes.
Asunto(s)
Ácido Fólico/administración & dosificación , Interacción Gen-Ambiente , Hipospadias , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , Estudios de Casos y Controles , Femenino , Humanos , Hipospadias/epidemiología , Hipospadias/genética , Hipospadias/prevención & control , Masculino , Factores de RiesgoRESUMEN
BACKGROUND: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection. METHODS: Children diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank. Controls are recruited through random sampling from municipal registries. The parents receive questionnaires about demographics, family and pregnancy history, health status, prescribed medication, lifestyle, and occupational exposures before and during the index pregnancy. In addition, blood or saliva is collected from children and parents, while medical records are reviewed for diagnostic information. RESULTS: So far, we have collected data from over 6,860 families (3,747 birth defects, 905 childhood cancers, and 2,208 controls). The types of birth defects vary widely and comprise malformations of the digestive, respiratory, and urogenital tracts as well as facial, cardiovascular, kidney, skeletal, and central nervous system anomalies. The most frequently occurring childhood cancer types are acute lymphatic leukemia, Hodgkin and non-Hodgkin lymphoma, Wilms' tumor, and brain and spinal cord tumors. Our genetic and/or epidemiologic studies have been focused on hypospadias, anorectal malformations, congenital anomalies of the kidney and urinary tract (CAKUT), and orofacial clefts. CONCLUSION: The large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives. Birth Defects Research (Part A) 106:675-684, 2016. © 2016 Wiley Periodicals, Inc.
Asunto(s)
Bancos de Muestras Biológicas/organización & administración , Anomalías Congénitas/diagnóstico , Bases de Datos Factuales , Neoplasias/diagnóstico , Efectos Tardíos de la Exposición Prenatal/diagnóstico , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Anomalías Congénitas/clasificación , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Femenino , Humanos , Lactante , Recién Nacido , Estilo de Vida , Masculino , Neoplasias/clasificación , Neoplasias/genética , Neoplasias/patología , Embarazo , Efectos Tardíos de la Exposición Prenatal/clasificación , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
Macrodactyly of the foot is a rare disorder characterized by enlargement of the soft tissue and osseous elements of the foot that impedes the development of normal function and gait. Despite the morbidity associated with this condition, many surgeons are reluctant to perform surgical reduction. In the present report, we describe 3 pediatric patients with pedal macrodactyly, who underwent surgical correction consisting of amputation of the most enlarged ray, reduction of the adjacent rays, and ray transposition, combined with debulking of soft tissues. All 3 patients subsequently developed a normal gait and were able to wear normal, or minimally adjusted, shoes. We advocate early surgical treatment of macrodactyly of the foot to enhance the development of normal function and gait.
Asunto(s)
Deformidades Congénitas del Pie/cirugía , Procedimientos Ortopédicos/métodos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas del Pie/fisiopatología , Marcha , Humanos , Lactante , RadiografíaRESUMEN
A retrospective study was undertaken to evaluate whether the initial outcome of two types of reduction mammaplasty techniques (vertical scar reduction mammaplasty vs. the inverted-T scar reduction mammaplasty) remains stable in the long term: Sixty-nine patients who had undergone breast reduction surgery in the period 1997-2000 at the Department of Reconstructive Plastic Surgery at the Medical Center of Leeuwarden were willing and able to participate in this study. A structured questionnaire was used to assess the degree of patient satisfaction. For subjective evaluation, the Strasser Grading System on photographs at the 3 months after surgery and after long-term follow-up (10 years) was used. The median general appreciation mark for the entire surgical procedure given by patients was 8 (1-10) on a scale from 1 to 10. Forty-six of the 69 patients could be scored according to Strasser: at 3 months in 17 patients (37%) the result was 'good', in 21 patients (46%) 'mediocre' and in eight patients (17%) 'poor'. After 10 years, in 37 of the patients (80%) the result was 'good', in six patients (13%) 'mediocre' and in three patients (7%) 'poor'. At 3 months, there was a higher incidence of bottoming out in the vertical scar group (one on two patients) as compared to the inverted-T scar group (one on 10 patients); however, at the 10-years follow-up bottoming out was 50% in the inverted-T scar group and 20% in the vertical scar group. Despite bottoming out, in both the vertical scar reduction mammaplasty technique and the inverted-T scar reduction mammaplasty technique, high patient satisfaction rates are achieved that remains for years.
Asunto(s)
Mama/cirugía , Cicatriz/prevención & control , Mamoplastia/métodos , Satisfacción del Paciente/estadística & datos numéricos , Técnicas de Sutura , Adolescente , Adulto , Mama/patología , Cicatriz/etiología , Estudios de Cohortes , Estética , Femenino , Estudios de Seguimiento , Humanos , Hipertrofia/cirugía , Mamoplastia/efectos adversos , Persona de Mediana Edad , Países Bajos , Estudios Retrospectivos , Medición de Riesgo , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Resultado del Tratamiento , Adulto JovenRESUMEN
The recognized treatment of persistent congenital trigger thumb (CTT) is surgical release of the flexor pollicis longus (FPL) tendon by transection of the first annular (A1) pulley at the thumb metacarpal head. Twenty-seven children with persistent CTT were operated between 2000 and 2004. The average age at surgery was 34 months. In 16 patients, the CTT appeared unilaterally and was the sole anomaly in the hand. The others suffered from either multiple hand abnormalities or another syndrome. In only 3 of the 16 thumbs (ie, 19%) division of just the A1 pulley at the metacarpal (MC) head was sufficient to relieve the triggering. In 11 thumbs (69%), a structure other than the sheath and distally from the A1 pulley, up to halfway the proximal phalangeal shaft (as a single entity), was discovered and had to be released also. A separate annular pulley, distal to the A1 pulley and other than the A2 pulley, was found in 2 cases (13%). In both cases, transection of this separate annular pulley alone sufficed. Complete release of the FPL was obtained in all, and none presented with postoperative complications at an average of 24 months' follow-up. Our clinical study suggests that a separate annular pulley system may exist, which has to be transected to allow for free FPL excursion in perhaps as many as 2 out of 3 CTTs. In our study group, this was not accompanied by complications.
Asunto(s)
Procedimientos de Cirugía Plástica/métodos , Pulgar/anatomía & histología , Pulgar/cirugía , Trastorno del Dedo en Gatillo/congénito , Trastorno del Dedo en Gatillo/cirugía , Preescolar , HumanosRESUMEN
Periconceptional folic acid supplementation may reduce the risk of cleft lip with or without cleft palate (CL(P)). Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene reduce availability of 5-methyltetrahydrofolate, the predominant circulating form of folate. To determine the effect of MTHFR C677T and MTHFR A1298C genotypes and haplotypes on CL(P) risk and the interaction with maternal periconceptional dietary folate and folic acid supplement intake, the authors conducted a case-control triad study in the Netherlands (1998-2000) among 179 CL(P) and 204 control families. Infant and parental MTHFR C677T and MTHFR A1298C genotypes and haplotypes were not associated with CL(P) risk in the case-control and transmission disequilibrium test analyses. Mothers carrying the MTHFR 677TT genotype and who either did not use folic acid supplements periconceptionally or had a low dietary folate intake, or both, had an increased risk of delivering a CL(P) child (odds ratio (OR) = 5.9, 95% confidence interval (CI): 1.1, 30.9; OR = 2.8, 95% CI: 0.7, 10.5; OR = 10.0, 95% CI: 1.3, 79.1, respectively). No supplement use, low dietary folate intake, and maternal MTHFR 1298CC genotype increased the risk of CL(P) offspring almost sevenfold (OR = 6.5, 95% CI: 1.4, 30.2). Thus, the detrimental effect of low periconceptional folate intake on the risk of giving birth to a CL(P) child was more pronounced in mothers with the MTHFR 677TT or MTHFR 1298CC genotype.