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Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories.
Pediatr Neurol
April 2024
Facultad Mexicana de Medicina, Universidad La Salle, Mexico City, Mexico. Electronic address:
Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist with other cranial nerves palsies, mostly those found in the dorsal pons and medulla oblongata. MBS is considered a "rare" disease, occurring in only 1:50,000 to 1:500,000 live births, with no gender predominance. Three independent theories have been described to define its etiology: the vascular theory, which talks about a transient blood flow disruption; the genetic theory, which takes place due to mutations related to the facial motor nucleus neurodevelopment; and last, the teratogenic theory, associated with the consumption of agents such as misoprostol during the first trimester of pregnancy.
View Article and Find Full Text PDFMyocarditis Related to COVID-19 and SARS-CoV-2 Vaccination.
J Clin Med
November 2022
Centro de Investigación en Red de Enfermedades Cardiovasculares (CIBERCV), Cardiology Department, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.
The coronavirus disease of 2019 (COVID-19) has been a cause of significant morbidity and mortality worldwide. Among the short- and long-term consequences of COVID-19, myocarditis is a disease to be taken into consideration. Myocarditis, in general, is related to a poor prognosis.
View Article and Find Full Text PDFThe affective temperament traits and pregnancy-related depression in mothers may constitute risk factors for their children with attention deficit and hyperactivity disorder.
J Obstet Gynaecol
November 2020
Department of Psychiatry, Adnan Menderes University, Aydin, Turkey.
We investigated whether the affective temperaments of mothers and maternal depression before and during the index pregnancy are related to the development of Attention-Deficit Hyperactivity Disorder (ADHD) in their children. One hundred and twenty children were screened for the diagnosis of ADHD. After exclusion and inclusion criteria were applied for children and their mothers, we compared the mothers of children with ( = 63) and without ADHD ( = 60) in terms of affective temperament traits, depression before and during the index pregnancy, and some environmental risk factors.
View Article and Find Full Text PDFADDing a piece to the puzzle of cognition in schizophrenia.
Eur J Med Genet
January 2016
Department of Clinical Neurosciences, IRCCS San Raffaele Scientific Institute, Milan, Italy.
The biological bases of cognitive impairment in schizophrenia are poorly understood and may lie in insults in neurodevelopment, leading to alterations in critical structures. Synapses proteins are claimed to have etiopathogenic roles and more direct effects on core cognitive functions. Adducins family proteins seem of great interest, as they are fundamental constituents of synapses, involved in actin cytoskeleton assembly-disassembly, responsible of synaptic plasticity.
View Article and Find Full Text PDF[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].
Arq Bras Endocrinol Metabol
November 2011
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Basil.
Congenital isolated hypogonadotropic hypogonadism (IHH) is characterized by partial or complete lack of pubertal development due to defects in migration, synthesis, secretion or action of gonadotropin-releasing hormone (GnRH). Laboratory diagnosis is based on the presence of low levels of sex steroids, associated with low or inappropriately normal levels of pituitary gonadotropins (LH and FSH). Secretion of other pituitary hormones is normal, as well magnetic resonance imaging of the hypothalamohypophyseal tract, which shows absence of an anatomical defects.
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