Anorectal malformations (ARMs) consist of a range of anomalies that are often associated with other anomalies The purpose of the study is to assess the incidence of associated congenital anomalies that are seen in patients with ARMs. An observational prospective study was conducted on 162 cases with ARM from February 2019 to January 2020, and data were collected on patient demographics, type of ARM, and associated anomalies using a prestructured questionnaire and analysis done using SPSS (IBM), version 23, software. Relevant statistical analysis was done, and the results are presented in tables and charts. Of 162 cases studied, 70 of them were males and 92 were females with a male-to-female ratio of 0.76:1. The majority of male patients (45%) had rectourethral fistulas, whereas 63% of the females had rectovestibular fistula. While 76 (47%) patients presented with isolated ARM, 86 (53%) had ≥1 associated congenital malformations. Forty-eight (30%) patients presented with a single associated anomaly, whereas 20 (12%) patients had≥3 associated anomalies. The commonest associated anomalies were urologic 26.5% followed by genital (22.8%), cardiac 20.4%, and musculoskeletal 16.6%, and 12.3% of them had vertebral; anorectal; cardiac; tracheoesophageal fistula; renal; limb association. More than half of the children have other associated abnormalities. We found urogenital anomalies to be the most common associated congenital defects. A lower incidence of cardiac and spinal cord anomalies was noted suggesting a need for active workup to be in line with the latest standards of care.
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http://dx.doi.org/10.1097/MD.0000000000039811 | DOI Listing |
Eur J Pediatr
January 2025
Neonatology Department. Hospital Sant Joan de Déu, Center for Maternal Fetal and Neonatal Medicine. Neonatal Brain Group, Universitat de Barcelona. Hospital Clínic, Universitat de Barcelona. BCNatal - Barcelona, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Purpose: Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.
View Article and Find Full Text PDFEnviron Sci Technol
January 2025
School of Tropical Agriculture and Forestry, Hainan University, Haikou 570228, China.
Diquat (DQ), a contact herbicide extensively utilized in both agricultural and nonagricultural domains, exhibits a high correlation with neuronal disorders. Nevertheless, the toxicity and underlying mechanisms associated with exposure to environmental concentrations of DQ remain ambiguous. Here, we report dose-dependent cellular neurotoxicity of DQ in .
View Article and Find Full Text PDFJ Clin Invest
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
View Article and Find Full Text PDFHaematologica
January 2025
Aix Marseille Univ, INSERM, INRAe, C2VN, Marseille.
Germline variants of FLI1, essential for megakaryopoiesis, are linked to bleeding disorders, platelet aggregation defects and mild thrombocytopenia. However, the mechanisms behind these abnormalities remain unclear. This study aims to elucidate the impact of FLI1 variants on human megakaryocytes and platelets.
View Article and Find Full Text PDFAust N Z J Obstet Gynaecol
January 2025
Obstetrics and Gynaecology, Mater Mothers Hospital, Brisbane, Queensland, Australia.
Background: Placenta praevia (PP) is a significant obstetric complication associated with antepartum haemorrhage (APH) and adverse maternal and fetal outcomes. Identifying risk factors for APH in women with PP is important for guiding management decisions.
Aims: This study aimed to identify risk factors associated with APH amongst women admitted to a single tertiary hospital with PP.
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