The data processing of multiple congenital abnormalities is demonstrated in the Hungarian Surveillance of Congenital Anomalies. Specified dysmorphic syndromes and CA-associations are registered on the basis of notification. Unspecified multiple congenital abnormalities are evaluated on the basis of notified abnormalities. First, a distance-diagnosis is being tried concerning some specified dysmorphic syndromes and CA-associations. Second, the alive babies with unspecified multiple abnormalities are referred to the regional multiple abnormality centre while a detailed post-mortem description is requested from the stillborns and infant deaths with multiple abnormalities. Third, the remaining unspecified congenital abnormalities are divided into 4 categories (obvious, important, dubious and minor) and into 40 groups. Babies with two abnormalities are annually compiled in one table. Babies with three abnormalities are summarized according to the so-called "cardinal" abnormalities in different tables. Finally, babies with four or more abnormalities are listed one by one with regard to the leading abnormality in another table. This classification system helps - among other - to recognize known and new syndromes and CA-associations, as well as to monitor a cluster of specific combinations of congenital abnormalities.
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JBJS Case Connect
January 2025
Department of Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut.
Case: A 16-year-old woman presented with acute on chronic knee pain and instability following a twisting injury. The tibial insertion of the anterior cruciate ligament (ACL) was nonvisualized on magnetic resonance imaging. A cord-like ACL, originating from the lateral intercondylar notch and inserting smoothly into the anterior horn of the intact lateral meniscus, was found on arthroscopy.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFEchocardiography
January 2025
Radiology Department, Liverpool Heart and Chest Hospital NHS Foundation Trust, Liverpool, UK.
Optimal management of adult congenital heart disease (ACHD) requires a multidisciplinary team (MDT) approach, fostering a collaborative culture over an individualistic approach. Within this framework, subspecialty-trained radiologists provide crucial imaging expertise, supporting cardiologists, surgeons, and interventional cardiologists in diagnoses, treatment planning, and follow-up evaluations. Advanced imaging tools and a nuanced understanding of surgical and interventional procedures enable radiologists to provide valuable insights to clinicians.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Interdisciplinary Orthopaedics, Department of Orthopaedic Surgery, Aalborg University Hospital, Aalborg, Denmark.
Importance: Two meta-analyses published in 2012 found breech presentation, family history of developmental dysplasia of the hip (DDH), female sex, and primiparity to increase the risk of DDH. However, the DDH definition, reference tests, and the age of the examined children varied considerably, complicating the translation of those findings to current screening guidelines.
Objective: To evaluate the association of previously proposed risk factors with the risk of sonography-verified DDH.
JAMA Netw Open
January 2025
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora.
Importance: A recent advisory from the American Heart Association delineated the potential benefits of developmental care for hospitalized children with congenital heart disease (CHD) and a critical gap in research evaluating the association of such inpatient programs with neurodevelopmental outcomes.
Objective: To investigate associations between the Cardiac Inpatient Neurodevelopmental Care Optimization (CINCO) program interventions, delirium, and neurodevelopment in young children (newborn through age 2 years) hospitalized with CHD.
Design, Setting, And Participants: This cohort study used quality improvement data from inpatient cardiac units at a tertiary care children's hospital in the US.
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