Two young patients were referred recently to the authors for investigation of a peroneal atrophy syndrome. Since the first symptoms were observed in infancy, a congenital hypomyelination neuropathy was suspected, and superficial peroneal nerve biopsies were taken. Signs of severe and widespread demyelination/remyelination were observed. These features appeared morphologically similar to those observed in the globular or tomaculous neuropathies. The mechanism of the hypermyelination is discussed.
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http://dx.doi.org/10.1007/BF00692853 | DOI Listing |
J Clin Endocrinol Metab
November 2024
Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland.
EClinicalMedicine
November 2024
Department of Dermatology, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Cureus
October 2024
Department of Orthodontics and Dentofacial Orthopedics, School of Dental Sciences, Krishna Vishwa Vidyapeeth, Karad, IND.
Amongst the spectrum of dental developmental anomalies, hypodontia is a condition characterized by congenitally missing teeth. Whereas, hyperdontia is a condition that results in the development of an excessive number of teeth. These two conditions are regarded as polar opposites in the progression of dentition development.
View Article and Find Full Text PDFInt J Lab Hematol
February 2025
SIPMEL Castelfranco Veneto, Castelfranco Veneto, Italy.
Introduction: Hereditary spherocytosis (HS) is a congenital haemolytic disorder, resulting from plasma membrane protein deficiency of red blood cells (RBCs). Typical pathological signs are anemia, jaundice, and splenomegaly; in newborns, jaundice is the main symptom.
Material And Methods: This study focused on the state of art about the HS diagnosis, from traditional to innovative methods, including diagnostic algorithms that can be applied for pediatric and adult patients, for different laboratory diagnostic levels.
Biomolecules
October 2024
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impaired neuromuscular transmission at the NMJ, resulting in fatigable muscle weakness. A subset of five of these CMS-causative genes are associated with protein glycosylation.
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