In this paper we summarize the development of the official registration program of congenital anomalies in the Czech Republic from its beginnings in 1964 to present state. The historical review shows all running changes in the registration process that always reflected the actual knowledge in the epidemiology of congenital anomalies. The quantitative changes include mainly the change in the numbers of registered diagnoses. The qualitative changes include the increase of the age limit at diagnoses from original 7 days to current 15 years of age and the association of the prenatally diagnosed cases with the core database. During the 45 years of consecutive monitoring of the congenital anomalies in the Czech Republic we have determined the incidences of severe congenital anomalies in the population and we have analyzed the trends in these incidences (using both time and territory criteria). In the conclusion we discuss the role of the registration in the National health information system and the importance for the healthcare quality monitoring.
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S Afr J Surg
December 2024
Department of Gastrointestinal Surgery, Central Hospital Affiliated to Shandong First Medical University, China.
Tailgut cyst is an exceedingly rare congenital anomaly originating from embryonic remnants of the tailgut. Owing to its asymptomatic nature in the early stages, it is prone to clinical misdiagnosis. We present a case of a 55-year-old female with initial symptoms manifesting as sacrococcygeal pain.
View Article and Find Full Text PDFIndian J Urol
January 2025
Department of Paediatric Surgery, AIIMS, New Delhi, India.
Urethral duplication is a rare congenital anomaly characterized by more than one urethral channel, with varied course, location of the external opening, and presentation. Presentations can be varied, depending upon individual anatomical dispensation but mostly present as obstruction, recurrent urinary infection, or double urinary stream. Treatment depends on the type of duplication and associated anomalies.
View Article and Find Full Text PDFTex Heart Inst J
January 2025
Center for Women's Heart and Vascular Health, The Texas Heart Institute, Houston, Texas.
Myocardial bridging is a frequent anomaly of the heart in humans and other animals. A myocardial bridge is typically characterized by the systolic narrowing seen with traditional catheter angiography, but this abnormality is not by itself a sign of ischemia or the need for intervention. In particular, transient spontaneous angina must be corroborated by reproducible narrowing during acetylcholine testing; this narrowing occurs during resting conditions and is responsive to nitroglycerin administration.
View Article and Find Full Text PDFExp Ther Med
March 2025
Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.
View Article and Find Full Text PDFSuperficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.
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