Results 41 to 50 of about 387,299 (307)
Congenital airway malformations
, 2023 Congenital airway malformations comprise a broad spectrum of rare to common anomalies. These anomalies occur at various anatomic levels and manifest in a wide array of airway symptoms, with presentation significantly influenced by the level at which ...
Varela Balbontín, Patricio José +1 more
core +1 more source
Identifying Patterns of Hospitalizations Among Childhood Cancer Survivors: A Population‐Based Study
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Childhood cancer survivors (CCSs) experience more hospitalizations than the general population. We aimed to identify distinct hospitalization patterns among Queensland CCSs and the associated characteristics. Methods Cases (aged ≤14 years) diagnosed between 1995 and 2019 while residents of Queensland were identified through the ...
Hai Pham +7 more
wiley +1 more source
Congenital malformations among newborns in Morocco: A retrospective study
Pediatric Reports, 2020 Congenital malformations are one of the leading causes of neonates and infants’ mortality and morbidity. The frequency of these congenital malformations varies in different populations.
Adil Elghanmi +3 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Birth Defects in Northern Iran (2008-2013)
Iranian Journal of Public Health, 2018 Background: Congenital anomalies are important medical and public health conditions. The pattern and prevalence of birth defects may vary over time or with geographical location.
Arezoo MIRFAZELI +4 more
doaj
Consanguinity and the risk of congenital heart disease [PDF]
, 2012 Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L. +2 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source