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Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
View Article and Find Full Text PDFPreservation of Bilateral Corticospinal Projections from Injured Hemisphere After Perinatal Stroke.
Brain Sci
January 2025
Waisman Center, University of Wisconsin-Madison, Madison, WI 53706, USA.
Background: Perinatal brain injury is a leading cause of developmental disabilities, including cerebral palsy. However, further work is needed to understand early brain development in the presence of brain injury. In this case report, we examine the longitudinal neuromotor development of a term infant following a significant loss of right-hemispheric brain tissue due to a unilateral ischemic stroke.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFGenetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.
J Appl Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Avenue, Daneshjoo Blvd, Evin, Tehran, 1985713834, Iran.
Perrault syndrome (PS) is an extremely rare autosomal recessive condition characterized primarily by bilateral sensorineural hearing loss in both genders and primary or secondary ovarian failure in females. Neurological features such as cerebral ataxia, peripheral neuropathy, epilepsy, and intellectual disability are frequent manifestations of PS. To date, six genes have been reported to cause PS, and nearly 100 families have been identified worldwide with this syndrome.
View Article and Find Full Text PDFParental Stress, Learned Helplessness, and Perceived Social Support in Mothers of Children with Hearing Loss and Mothers of Typically Developing Children.
Audiol Res
December 2024
Department of Audiology and Speech Language Pathology, Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Manipal 576104, Karnataka, India.
Hearing loss in children can have a detrimental impact on their development, thus lowering the psychological well-being of parents. This study examined the amount of parental stress, learned helplessness, and perceived social support in mothers of children with hearing loss (MCHL) and mothers of typically developing children (MTDC), as well as the relationship between various possible contributing factors to parental stress such as learned helplessness and perceived social support. Three questionnaires measured parental stress (Parental Stress Scale; PSS), learned helplessness (Learned Helplessness Scale; LHS), and perceived social support (Perceived Social Support-Friends PSS-Fr and Perceived Social Support-Family PSS-Fa Scale) in 100 MCHL and 90 MTDC.
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