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[The repercussions of variations in ambient air pressure on pulmonary airway dystrophy. Applications to scuba diving with mask, commercial air travel and stays in high-altitude settings].
Rev Mal Respir
December 2024
Service de pneumologie, hôpital de la Croix-Rousse, 69004 Lyon, France.
Article Synopsis
- Pulmonary airway dystrophy (PAD) is a rare condition that can be either inherited or developed, with limited research on how air pressure changes during airplane trips or high-altitude situations impact it.
- Studies indicate that all PAD cases have been linked to accidents during exposure to varying air pressures, necessitating careful consideration of each individual case to tailor recommendations based on the disease's origin and severity.
- Establishing a register for cases of barotrauma in individuals with cystic lung disease or pulmonary bullae related to PAD could provide valuable insights and improve patient management.
Syndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFRORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Genet Med
December 2024
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Upper body gait deviations in children with Duchenne muscular dystrophy.
Clin Biomech (Bristol)
December 2024
Department of Neuro-Orthopaedics, University of Basel Children's Hospital, Spitalstrasse 33, CH-4056 Basel, Switzerland. Electronic address:
Background: Duchenne muscular dystrophy is primarily a disease of progressive muscle degeneration affecting the whole body. It is important to preserve the patients' walking ability as long as possible. Inconclusive information on Duchenne muscular dystrophy gait pattern is available for the lower body and missing for the upper body.
View Article and Find Full Text PDFCompound Heterozygous Variants in the Gene Associated with Skeletal Ciliopathies.
Diagnostics (Basel)
November 2024
Laboratorio di Genetica Umana, Altamedica, Viale Liegi 45, 00198 Rome, Italy.
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.
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