Objective: The aim of the present study was to investigate the relation between consanguinity and inflammatory bowel diseases (IBD).
Methods: Review of the medical records of children with a final diagnosis of IBD to determine age, sex, and type of IBD, supplemented by information on consanguinity and family history (FH) of IBD in relatives. There were 138 children, ages 1.4 to 19.3 years, and 50% were girls.
Results: The prevalence of consanguinity was 50%, 53%, 39% and 60% in IBD, Crohn disease (CD), ulcerative colitis (UC), and controls, respectively. There was a significantly higher prevalence of consanguinity in controls than in patients with IBD and UC (P = 0.02 and 0.026, respectively), whereas the difference between CD patients and controls was not significant (P = 0.20). The prevalence of first cousin consanguinity was 71%, 73.2%, 61.5% and 70.5% in patients with IBD, CD, UC, and controls, respectively, indicating no significant difference between these conditions and controls (P = 0.95, P = 0.78, P = 0.33, respectively). There was no significant difference in the prevalence of consanguinity in the parents of children with or without a FH of either CD (P = 0.89) or UC (P = 0.32).
Conclusions: There is no significant relation between parental consanguinity and IBD in this population, especially when there is no FH of disease, suggesting reduced genetic susceptibility; however, further studies including larger sample size and details of FH of consanguinity and IBD in multiple generations are needed for further definitions of the role of consanguinity.
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http://dx.doi.org/10.1097/MPG.0b013e31826d9987 | DOI Listing |
JCO Glob Oncol
January 2025
Department of Oncology, Aga Khan University Hospital, Karachi, Pakistan.
Purpose: Constitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single tertiary care center in Pakistan, a country with high consanguinity rates.
Patients And Methods: We reviewed the data of patients age <18 years with pHGG, anaplastic astrocytoma, and diffuse midline glioma (DMG) with CMMRD testing between 2016 and 2023.
Tunis Med
January 2025
Department of embryo-fetopathology, La Rabta Maternity and Neonatology Center, El Manar II University, 1007 Tunis, Tunisia.
Introduction: Anencephaly is a serious developmental defect of the central nervous system in which the brain and cranial vault are grossly malformed. The cerebrum and cerebellum are reduced or absent, but the hindbrain is present. Anencephaly is a part of the neural tube defect spectrum.
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January 2025
Department of Pediatric Nephrology, Başkent University Faculty of Medicine, Ankara, Türkiye.
Objective: Urinary stone disease (USD) is characterized by stone formation in the urinary system with an approximate prevalence of 5%-10% in children. In thisr study, the authors investigated the metabolic abnormalities that play a role in stone formation in pediatric patients with USD admitted to the authors' pediatric nephrology clinic during the last 10 years, the demographic characteristics of the patients, and the presenting symptoms. Materials and Methods: A total of 325 pediatric patients, 166 boys (51.
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December 2024
Medicine, College of Medicine, Taibah University, Medina, SAU.
Preimplantation genetic diagnosis (PGD) is provided by majority of reproductive clinics in the United States (US), and PGD is used in many in vitro fertilization (IVF) procedures every year. PGD is extensively used to screen for certain genetic abnormalities and aneuploidy in individuals undergoing IVF. Genetic disorders are very prevalent in Saudi Arabia.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Abassia, Cairo, Egypt.
Some patients with neuromyelitis optica spectrum disorder (NMOSD)-like symptoms test negative for anti-aquaporin-4 (anti-AQP4) antibodies. Among them, a subset has antibodies targeting myelin oligodendrocyte glycoprotein (MOG), a condition now termed MOG antibody-associated disease (MOGAD). MOGAD shares features with NMOSD, like optic neuritis and myelitis, but differs in pathophysiology, clinical presentation, imaging findings, and biomarkers.
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