Results 31 to 40 of about 5,752 (241)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Objectives Subperception spinal cord stimulation (SCS) is described mostly utilizing waveforms that require high energy. However, the necessity of these waveforms for effective subperception has not been established. We aimed to explore whether effective subperception pain relief can be achieved using frequencies below 1 kHz.
José Paz‐Solís +5 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Background Refractory chronic migraine (rCM) is a highly disabling condition for which novel safe and effective treatments are needed. Safety and long‐term efficacy of paresthesia‐free high cervical 10 kHz spinal cord stimulation (SCS) were here prospectively evaluated for the treatment of rCM.
Adnan Al‐Kaisy +7 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We observed a negative effect of brachycephalic obstructive airway syndrome (BOAS) in a staggered manner based on the severity of the condition on respiratory and cardiac patterns, glycemia, acid–base balance, fetal growth, and uterine artery hemodynamics, thus requiring adaptations within the fetal–placental unit. Severely affected bitches had uterine
Roberto Rodrigues da Rosa Filho +4 more
wiley +1 more source
Clinical Effect Analysis of Spinal Cord Electrical Stimulator Implantation for Diabetic Foot
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Objective To investigate the clinical effect of spinal cord electrical stimulator implantation in the treatment of diabetic foot (DF). Materials and Methods We recruited 19 patients with DF who were admitted to Shengjing Hospital of China Medical University between January 2018 and May 2020.
Peng‐Bo Zhou, Min Bao
wiley +1 more source
Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs
The Anatomical Record, EarlyView.Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille +6 more
wiley +1 more source
Pourfour Du Petit syndrome after interscalene block
Saudi Journal of Anaesthesia, 2013 Interscalene block is commonly associated with reversible ipsilateral phrenic nerve block, recurrent laryngeal nerve block, and cervical sympathetic plexus block, presenting as Horner′s syndrome. We report a very rare Pourfour Du Petit syndrome which has
Mysore Chandramouli Basappji Santhosh +2 more
doaj +1 more source
Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants
Children, 2022 Enlarged vestibular aqueduct is the most common inner ear malformation in pediatric patients with sensorineural hearing loss. Here, we report a new presentation of enlarged vestibular aqueduct in a Korean family.
Jun Chul Byun +2 more
doaj +1 more source
Anatomical Sciences Education, EarlyView.Abstract Teaching white matter (WM) anatomy to undergraduates is challenging. This is partly because WM fibers are oriented intricately and Klingler's dissection, the gold standard method used to demonstrate it, often requires time, advanced anatomical knowledge, and refined dissection skills.
Doris George Yohannan +7 more
wiley +1 more source