A review of internal hernias related to congenital peritoneal fossae and apertures
Sign Up to like & getrecommendations! Published in 2020 at "Abdominal Radiology"
DOI: 10.1007/s00261-020-02829-4
Abstract: Congenital-type internal hernias have the potential to cause small bowel obstruction well into adulthood. Congenital-type internal hernias include left paraduodenal, right paraduodenal, foramen of Winslow, pericecal, sigmoid mesocolon, transomental, small bowel mesentery, and broad ligament… read more here.
Keywords: internal hernias; review internal; hernias related; hernias ... See more keywords
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2018.12.014
Abstract: BACKGROUND Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia, severely reduced nerve conduction velocities, and hypomyelination. Mutations in contactin-associated protein 1 (CNTNAP1) were recently described as… read more here.
Keywords: hypomyelinating neuropathy; congenital hypomyelinating; cntnap1 related; related congenital ... See more keywords
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlab012
Abstract: Nemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18 Dutch NEM6 patients and correlate… read more here.
Keywords: kbtbd13 related; congenital myopathy; microscopy; ring rods ... See more keywords
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108341
Abstract: Background Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by… read more here.
Keywords: congenital myopathy; variants fxr1; fxr1 related; muscle ... See more keywords
NBL1 Mediates Endothelial-to-Mesenchymal Transition in Pulmonary Arterial Hypertension Related to Congenital Heart Disease.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of respiratory cell and molecular biology"
DOI: 10.1165/rcmb.2022-0157oc
Abstract: Endothelial-to-mesenchymal transition (EndMT) plays a critical role in the flow-induced vascular remodeling process, such as pulmonary artery hypertension related to congenital heart disease (CHD-PAH). Neuroblastoma suppressor of tumorigenicity 1 (NBL1) is a secreted glycoprotein and… read more here.
Keywords: hypertension related; mesenchymal transition; congenital heart; endothelial mesenchymal ... See more keywords
Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.664618
Abstract: Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected… read more here.
Keywords: findings neonatal; early findings; life; neonatal cases ... See more keywords
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2020.00122
Abstract: LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene. LAMA2 encodes laminin α2, a subunit… read more here.
Keywords: lama2 related; muscular dystrophy; dystrophy; congenital muscular ... See more keywords
Death Related to a Congenital Vascular Anomaly of Pulmonary Hamartoma Type: Malpractice or Tragic Fatality?
Sign Up to like & getrecommendations! Published in 2021 at "Medicina"
DOI: 10.3390/medicina57111231
Abstract: In forensic pathology, apparently straightforward cases can often hide rarities that, if not correctly interpreted, can alter the results of the entire investigation, leading to misinterpretations. This occurs when the investigation is conducted to assess… read more here.
Keywords: hamartoma; death; malpractice; pathology ... See more keywords