Results 51 to 60 of about 4,160 (263)
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 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
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
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
Iatrogenic Horner’s syndrome after thyroidectomy and neck dissection
The Pan-American Journal of OphthalmologyHorner’s syndrome or oculosympathetic palsy is caused by disruption to the oculosympathetic pathway and presents with symptoms such as ptosis, enophthalmos, miosis, facial anhidrosis, and vascular dilatation of the lateral part of the face.
Srishti Jain +3 more
doaj +1 more source
Isolated Horner’s Syndrome Secondary To Rhinosinusitis: A Case Report And Literature Review
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2020 Background Horner’s syndrome (HS) is characterized by unilateral ptosis, ipsilateral miosis with normally reactive pupil, and in some cases, ipsilateral facial anhidrosis. Case presentation We report an adult male presenting with ptosis.
Jamir Pitton Rissardo +3 more
doaj +1 more source
Arthritis &Rheumatology, Accepted Article.Background Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó +84 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
Cervical myelopathy presenting with an acute Horner's syndrome
Interdisciplinary Neurosurgery, 2019 Cervical myelopathy due to a disc herniation commonly manifests with difficulty in walking, spastic weakness of upper limbs and hands, hyperreflexia, and patchy sensory loss due to mechanical disruption and vascular compromise of spinal cord pathways to ...
Rory J. Lubner +6 more
doaj +1 more source