Diaphragmatic agenesis is the most extreme form of congenital diaphragmatic defect, and it may be unilateral or bilateral. Diaphragmatic agenesis is a rare diagnosis, typically made early in infancy and is generally associated with other genetic anomalies, especially anueploidy syndromes. It is associated with a high mortality, if not treated in infancy. However, a few patients have survived till adulthood. In this report, we describe the case of an adult female who presented with progressive shortness of breath during third trimester of pregnancy with complete agenesis of the right side of the diaphragm. A new diaphragm was created using polypropylene mesh after which she improved symptomatically and the lung showed good expansion.
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J Physiol
January 2025
Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, MN, USA.
Motor neurons (MNs) within the nucleus ambiguus innervate the skeletal muscles of the larynx, pharynx and oesophagus, which are essential for swallow. Disordered swallow (dysphagia) is a serious problem in elderly humans, increasing the risk of aspiration, a key contributor to mortality. Despite this importance, very little is known about the pathophysiology of ageing dysphagia and the relative importance of frank muscle weakness compared to timing/activation abnormalities.
View Article and Find Full Text PDFSpine Deform
January 2025
Great North Children's Hospital, Newcastle Upon Tyne, UK.
Purpose: To determine the prevalence of scoliosis in patients who have undergone surgical repair of CDH and attempt to assess the aetiology of scoliosis in affected cases.
Methods: A prospectively collected database of patients with CDH treated in a single centre between 1997 and 2023 was reviewed. Cases with adequate records who continued to reside locally having survived beyond age 2 and > 2 years following CDH repair were included.
J Community Genet
January 2025
Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.
Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Faculty of Medicine, Department of Surgery, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Chulalongkorn University, Bangkok, Thailand.
Bochdalek hernias (BHs), though rare, are the most common congenital diaphragmatic hernias. Their coexistence with an ectopic intrathoracic kidney (IK), found in 0.25% of cases, is even rarer.
View Article and Find Full Text PDFStem Cells Transl Med
January 2025
Developmental and Stem Cell Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, ON, Canada M5G 0A4.
Disruption of developmental processes affecting the fetal lung leads to pulmonary hypoplasia. Pulmonary hypoplasia results from several conditions including congenital diaphragmatic hernia (CDH) and oligohydramnios. Both entities have high morbidity and mortality, and no effective therapy that fully restores normal lung development.
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