Objectives: To examine numbers of congenital anomaly (CA) at birth overall and by class in one clinic in Fallujah General Hospital, Fallujah, Iraq.
Study Design: All congenital anomaly birth referrals to one pediatric clinician at Fallujah General Hospital for an eleven month period beginning November 1, 2009 were recorded. This clinic was one of three clinics to which cases would be referred.
Results: There were 291 CA cases registered at birth in the period at the study's clinic. The total number of births recorded in the hospital over the period was 6049. The CAs included 113 heart and circulatory system cases, 72 nervous system cases, 40 digestive system cases, 9 genitourinary cases, 6 ear, face and neck cases, 7 respiratory cases and 30 Down syndrome cases.
Conclusion: Owing to difficulties establishing the exact number of births from which these cases were drawn, the exact rates cannot be precisely determined. Nevertheless, on the basis of reasonable assumptions relating to the activity of the clinic involved, these results support earlier epidemiological findings. On the basis of work reported elsewhere, the higher rates of congenital anomalies are believed to be caused by exposure to some genotoxic agent, possibly uranium.
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http://dx.doi.org/10.5915/44-1-10463 | DOI Listing |
Cureus
December 2024
Obstetrics and Gynecology, Shalamar Medical and Dental College, Lahore, PAK.
Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
January 2025
Lugansk state medical University, Department of Pathology, Rivne, Ukraine.
Introduction: Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
View Article and Find Full Text PDFPediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
BMC Med Genomics
January 2025
Department of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.
Background: We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups.
Methods: Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups.
Methods Enzymol
January 2025
St.Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia; Department of Medicine, St. Vincent's Hospital, Melbourne Medical School, University of Melbourne, Fitzroy, Victoria, Australia; Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia. Electronic address:
Adenosine-to-inosine (A-to-I) editing, is a highly prevalent posttranscriptional modification of RNA, mediated by the adenosine deaminases acting on RNA (ADAR) proteins. Mammalian transcriptomes contain tens of thousands to millions of A-to-I editing events. Mutations in ADAR can result in rare autoinflammatory disorders such as Aicardi-Goutières syndrome (AGS) through to irreversible conditions such as motor neuron disease, amyotrophic lateral sclerosis (ALS).
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