Results 101 to 110 of about 546,155 (300)

Blink Reflex as a Complementary Test to MRI in Early Detection of Brainstem Infarctions: Comparison of Blink Reflex Abnormalities in Anterior Versus Posterior Circulation Strokes

Journal of Research in Medical Sciences, 2004
Background: Early detection of vertebro-basilar insufficiency is of paramount importance. Brain MRI was the only method of diagnosis for many years, but in addition to high cost and delay in report, it may not detect all brain stem lesions. In this study
K Basiri, M Zareh, S Khosravi
doaj  

Primitive reflexes in infants with cerebral palsy due to Congenital Zika Syndrome and its relationship with other motor features

Frontiers in Pediatrics
BackgroundThe Zika virus outbreak, which occurred from 2015 to 2016 in Brazil, resulted in the birth of neonates with brain malformations arising from Congenital Zika Syndrome (CZS). The characterization of primitive reflexes and their relationships with
Leticia Serra, Leticia Serra, Débora Patrícia Rios, Mino Rios, Breno Lima de Almeida, Kelly de Souza Fernandes, Rita Lucena, Isadora Cristina de Siqueira   +7 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

ROC curves for CANRS using having at least 2 abnormal cardiac reflex test results as the standard diagnosis criteria.

, 2018
ROC curves for CANRS using having at least 2 abnormal cardiac reflex test results as the standard diagnosis criteria.
Tao Yuan (443733), Tao Xu (3537), Ying Zhou (25031), Weigang Zhao (3525176), Yingyue Dong (5814944), Yong Fu (699744), Jiapei Li (5814941), Xiangqing Wang (2588506), Juan Li (146180)   +8 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Clinical characteristics and otolith dysfunction in presbyvestibulopathy: A retrospective cross-sectional analysis

Heliyon
Objective: The Bárány Society recently established diagnostic criteria for presbyvestibulopathy, an age-related bilateral vestibular impairments in older individuals.
Thanh Tin Nguyen, Jin-Ju Kang, Thi Thuy Nguyen, Sun-Young Oh   +3 more
doaj   +1 more source