RESUMEN
BACKGROUND: Hypospadias is one of the most common forms of congenital malformation of the male external genitalia worldwide. The ratio in the Iranian population is one in 250 live male births. The conversion of testosterone to dihydrotestosterone (DHT) in the presence of steroid 5α-reductase 2, which is encoded by SRD5A2 gene, plays an important role in the normal development of the male reproductive system. METHODS: We examined whether SRD5A2 gene mutations (V89L and A49T polymorphisms) are associated with the risk of hypospadias in the Iranian population. We performed exons sequencing for SRD5A2 gene in 109 hypospadias patients. RESULTS: We identified two new mutations in the subgroups of affected cases: including a substitution of the nucleotide T > A in the codon 73 [c.219T > A (p.Leu73_Ser74insHisPro)] and an insertion of an extra A nucleotide in the codon 77 [c.229insA* (p.Gly77*)]. Additionally, we performed PCR-RFLP for the two identified polymorphisms and revealed that V89L [OR = 5.8, 95% CI (3.8-8.8), p value < 0.001] and A49T [OR = 10.16, 95% CI (3.94-26.25), p value < 0.001] are significantly associated with hypospadias occurrence in patients. Our haplotype analysis further indicated that the Leu-Ala haplotype increases risk of hypospadias; conversely, the Val-Ala haplotype decreases the risk of hypospadias in the studied patients. CONCLUSIONS: This study demonstrates that polymorphisms in the SRD5A2 gene could be considered as a risk factor for hypospadias disease emergence.
Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Hipospadias/epidemiología , Hipospadias/genética , Proteínas de la Membrana/genética , Mutación/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Irán/epidemiología , Masculino , Prevalencia , Factores de Riesgo , Testosterona/sangreRESUMEN
BACKGROUND: Hirschsprung's disease (HD) is a relatively common congenital disease that could be suspected by clinical symptoms, abdominal plain X-ray, and finally diagnosed by rectal biopsy. In 80% cases, rectosigmoid junction is involved. Recently, one-stage transanal pull-through (TAPT) procedure has been popular and may have several complications. METHODS AND PATIENTS: During a 4-year period, 86 infants (28 girls, 58 boys) with mean age 8 days (3-33) and clinically suspected to HD were admitted in our center. HD was proved by rectal biopsy. All patients after full bowel preparation and rectal washout were candidates for TAPT operation. A Swenson-like procedure was performed and the anastomosis was done between the well blood supply ganglionic colon and the rectum at 1 cm above dentate line. Interrupted suture with 5-0 Vicryl was used. Nelaton tube (12 F) inserted in the pelvis via transprineal for drainage of blood or collection. From February 2008 in 30 cases, prophylactic Hegar dilatation was performed 2 weeks after operation. RESULTS: Anal stricture in 12 cases (14%) was treated by anal dilation in 10 cases and 2 cases corrected by surgical management. Entrocolitis in 4 cases (5%) was treated by medical management. In two cases, retrocolic abscess had spontaneous drainage via tube drain. There was no anastomotic stricture after starting prophylactic anal bouginage. CONCLUSION: TAPT has many advantages, low complications and the results are excellent. It seems the most common complication is anastomotic stricture that responds well to prophylactic bouginage. We recommend prophylactic anal bouginage with Hegar probe at 2 weeks after operation. Long-term follow-up is needed to evaluate the outcomes of our operations.
Asunto(s)
Canal Anal/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Dilatación/métodos , Enfermedad de Hirschsprung/cirugía , Canal Anal/patología , Biopsia , Colon Sigmoide/cirugía , Femenino , Estudios de Seguimiento , Enfermedad de Hirschsprung/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Radiografía Abdominal , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
In a cross-sectional study, all trauma patients hospitalized for 24 hours or more over a 4-month period in Taleghani hospital, the only referral teaching centre in Kermanshah city, were studied (n = 779). Mean age was 34.7 (standard deviation 19.9) years. Male, unemployed and illiterate patients predominated. Road traffic accidents, falls and interpersonal violence were the most common mechanisms of injury. Among road traffic accident victims, pedestrians were the most vulnerable group. A total of 7.8% of patients died, mostly due to head injuries (78.7%). Our findings also showed the importance of head trauma as the main anatomical site of injury.
Asunto(s)
Sistema de Registros , Salud Urbana/estadística & datos numéricos , Heridas y Lesiones/epidemiología , Accidentes por Caídas/mortalidad , Accidentes por Caídas/estadística & datos numéricos , Accidentes de Tránsito/mortalidad , Accidentes de Tránsito/estadística & datos numéricos , Adulto , Distribución por Edad , Distribución de Chi-Cuadrado , Estudios Transversales , Escolaridad , Femenino , Hospitales de Enseñanza , Humanos , Irán/epidemiología , Masculino , Admisión del Paciente/estadística & datos numéricos , Vigilancia de la Población , Factores de Riesgo , Distribución por Sexo , Desempleo/estadística & datos numéricos , Violencia/estadística & datos numéricos , Heridas y Lesiones/etiologíaRESUMEN
In a cross-sectional study, all trauma patients hospitalized for 24 hours or more over a 4-month period in Taleghani hospital, the only referral teaching centre in Kermanshah city, were studied [n = 779]. Mean age was 34.7 [standard deviation 19.9] years. Male, unemployed and illiterate patients predominated. Road traffic accidents, falls and interpersonal violence were the most common mechanisms of injury. Among road traffic accident victims, pedestrians were the most vulnerable group. A total of 7.8% of patients died, mostly due to head injuries [78.7%]. Our findings also showed the importance of head trauma as the main anatomical site of injury