Results 21 to 30 of about 4,367 (180)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
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
Local and Regional Anesthesia, 2013 Hassan H Amhaz,1 Larry Manders,2 Elie J Chidiac,1 Vinay Pallekonda,1 Shushovan Chakrabortty1 1Department of Anesthesiology, Detroit Medical Center, Detroit, MI, USA; 2Wayne State University School of Medicine, Detroit, MI, USA Abstract: Stellate-ganglion
Amhaz HH +4 more
doaj
Horner’s syndrome as a rare outcome of a penetrating subclavicular stab wound [PDF]
Archives of Trauma ResearchBackground: Horner’s syndrome is characterized by the triad of miosis, ptosis, and anhidrosis, indicating disruption in the oculosympathetic pathway. It typically occurs following injury to the cervical sympathetic chain, often secondary to neoplasms or ...
Ali Yamini +3 more
doaj +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
Journal of Pain Research, 2018 Jaeyoung Yang, Yusun Choi, Juyoung Park, Junhyug Jeong, Bousung Lee, Kwanghaeng Lee, Jaedo Lee, Rakmin Choi Department of Anesthesiology and Pain Medicine, Veterans Health Service Medical Center, Seoul, South Korea Abstract: We successfully performed ...
Yang J +7 more
doaj
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