Results 81 to 90 of about 172,436 (294)
Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]
, 2009 Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind +2 more
core
High-Flow Vascular Malformations in Children. [PDF]
, 2020 Children can have a variety of intracranial vascular anomalies ranging from small and incidental with no clinical consequences to complex lesions that can cause substantial neurologic deficits, heart failure, or profoundly affect development. In contrast
Abla, Adib A +8 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Prenatal morphine exposure reduces pyramidal neurons in CA1, CA2 and CA3 subfields of mice hippocampus [PDF]
Iranian Journal of Basic Medical Sciences, 2014 Objective(s):This study was carried out to evaluate the effect of maternal morphine exposure during gestational and lactation period on pyramidal neurons of hippocampus in 18 and 32 day mice offspring.
Soraya Ghafari +1 more
doaj
Alteration of cystic airway mesenchyme in congenital pulmonary airway malformation. [PDF]
, 2019 Congenital pulmonary airway malformation (CPAM) is the most common congenital lesion detected in the neonatal lung, which may lead to respiratory distress, infection, and pneumothorax.
Jiang, Yi +9 more
core +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Brainstem auditory evoked responses in an equine patient population. Part II: foals. [PDF]
, 2014 BackgroundReports of the use of brainstem auditory evoked response (BAER) as a diagnostic modality in foals have been limited.Hypothesis/objectivesTo describe BAER findings and associated causes of hearing loss in foals.AnimalsStudy group 18 foals (15 ...
Aleman, M +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]
, 2016 BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK +5 more
core
Latest clinical recommendations on valproate use for migraine prophylaxis in women of childbearing age. Overview from European Medicines Agency and European Headache Federation [PDF]
, 2018 Migraine is a common and burdensome neurological condition which affects mainly female patients during their childbearing years. Valproate has been widely used for the prophylaxis of migraine attacks and is also included in the main European Guidelines ...
Dogne, Jean-Michel +5 more
core +2 more sources