ABSTRACT
BACKGROUND: Hypospadias continues to be a prevalent congenital anomaly affecting the male external genitalia, characterized by an unclear origin and complex treatment approaches. This study aimed to investigate the risk factors associated with hypospadias and explore its genetic link with the DICER1 rs3742330 variant. METHODS: The study involved two groups: 105 male children with hypospadias and 111 healthy male children as matched controls. Detailed history and physical examinations were conducted for all patients and controls. PCR-restriction fragment length polymorphism was utilized to identify the DICER1 rs3742330 variant, analyzing genotype distribution and allele frequency. Logistic regression analysis estimated the risk factors for hypospadias. RESULTS: The mean age in the hypospadias group was 4.56 ± 2.50 years. The most prevalent type of hypospadias observed was the anterior type in 60 children (57.14%). Intrauterine growth restriction, advanced maternal age, and gestational hypertension were identified as significant risk factors for hypospadias (p = .011, p = .016, and p = .041, respectively). Regarding the genetic study, no significant difference was found in both genotype and allele frequencies of the DICER1 rs3742330 variant between case and control groups. CONCLUSIONS: The rs3742330 variant in the DICER1 gene showed no association with hypospadias cases in the Algerian population. However, multivariate logistic regression analysis identified preterm birth, low birth weight, intrauterine growth restriction, advanced maternal age, gestational diabetes, and rural residence as the most significant independent predictors for hypospadias.
Subject(s)
DEAD-box RNA Helicases , Gene Frequency , Genetic Predisposition to Disease , Genotype , Hypospadias , Polymorphism, Single Nucleotide , Ribonuclease III , Humans , Male , Ribonuclease III/genetics , Hypospadias/genetics , DEAD-box RNA Helicases/genetics , Case-Control Studies , Risk Factors , Child , Child, Preschool , Gene Frequency/genetics , Polymorphism, Single Nucleotide/genetics , Algeria , Female , AllelesABSTRACT
INTRODUCTION: Triple-negative breast cancer (TNBC) is characterized by the lack of estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 (HER-2) expression. It is aggressive and most common in African women. In this study we identified the frequency, clinical an pathological characteristics of this type in a cohort of women in Eastern Algeria. METHODS: We conducted a retrospective study between January 2010 and December 2015 at the regional hospital of Constantine in eastern Algeria. Among 472 women with breast cancer, 102 women had a TNBC. Clinical and pathological features and overall survival were analyzed. RESULTS: 21.61% of patients had TNBC with a median age of 52 years. 65.31% of the patients were menopausal. Only 6.82% of women had a family history of breast cancer. The majority of patients had infiltrating ductal carcinoma (96.08%), the proportion of grade III SBR was 53.92%. The average tumor size was 4.4cm and 70.1% of the tumors had a very large size (T2 and T3). 69.07% of patients had positive lymph nodes, vascular invasion was found in 48.57% of cases. Metastatic sites were bone in 16.13% of cases, hepatic in 3.26% and pulmonary in 0.98%. For treatment modalities, 95.24% underwent surgery and adjuvant chemotherapy. 33.33% of patients have received neoadjuvant chemotherapy with 29% of complete pathologic response (pCR) and 96.97% have received radiotherapy. Overall Survival (OS) for all patients at 5 years was 45.2%. CONCLUSION: Most of our results are in accordance with literature data, however we noted some discrepancies. In this study, TNBC is more common in menopausal women than non menopausal women and characterized by a low rate of visceral metastases and a lower overall survival at 5 years.
