Results 61 to 70 of about 167,769,303 (287)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Informed consent comprehension in African research settings

, 2014
ObjectivePrevious reviews on participants' comprehension of informed consent information have focused on developed countries. Experience has shown that ethical standards developed on Western values may not be appropriate for African settings where ...
Chandramohan, Daniel, Okebe, J., Bojang, Kalifa, McGrath, N., Larson, H., Larson, Heidi J, Afolabi, Muhammed O, Afolabi, M., McGrath, Nuala, Okebe, Joseph U, Chandramohan, D., Bojang, K.   +11 more
core   +1 more source

عيوب الكمبيالة وآثارها النظامية Defects of the Bill of Exchange and Their Legal Consequences [PDF]

مجلة كلية الدراسات الإسلامية والعربية للبنات بدمنهور
تُعد العيوب التي قد تطرأ على الكمبيالة من أهم الإشكاليات القانونية التي تؤثر على دورها كأداة وفاء وائتمان في المعاملات التجارية، فبالرغم من أن الكمبيالة تتميز بقوة تنفيذية ومرونة في التداول، إلا أن وجود عيوب سواء شكلية أو موضوعية أو في طريقة تداولها، قد ...
عبدالعزيز بن محمد الدمخ
doaj   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Limb Body Wall Complex: First Trimester Ultrasonographic Diagnosis of a Case with Exencephaly and Megacystis

Gynecology Obstetrics & Reproductive Medicine, 2015
Limb Body Wall Complex (LBWC) is a rare developmental anomaly which is classified together with midline defects. Despite the anomaly arises from an error occuring during the embryonic folding, the exact pathophysiological mechanisms are poorly understood.
Mert Turğal, Aslıhan Yazıcıoğlu, Özgür Özyüncü, M. Sinan Beksaç   +3 more
doaj  

A unique case report of bilateral spontaneous cerebrospinal fluid leak from bilateral sphenoid sinus skull base defects

Journal of the Colleges of Medicine of South Africa
This brief report describes the presentation and management of a rare case of bilateral spontaneous cerebrospinal fluid (CSF) leaks resulting from skull base dehiscence in the sphenoid sinus lateral recess.
Divya P. Ramyead Basant Rai, Lien Deschuytere, Darlene Lubbe   +2 more
doaj   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Gradient‐Conductivity Architecture Enables Synchronous Enhancement of Sensitivity and Detection Range in Multifunctional All‐Paper Sensors

Advanced Functional Materials, EarlyView.
A gradient‐engineered all‐paper sensor is fabricated by integrating MXene and in situ grown AgNPs within hierarchical cellulose networks. The device breaks the sensitivity–detection range trade‐off through cascaded conductive pathways, enabling ultrahigh pressure sensitivity, humidity–pressure decoupled dual‐mode sensing, and outstanding EMI shielding,
Ao Li, Jun Xu, Dezhong Xu, Zhaohui Zhang, Jiyi Li, Daxian Cao, Kefu Chen, Mizi Fan   +7 more
wiley   +1 more source

Combination of Cartiheal and Osteochondral Allograft for the Treatment of Multifocal Cartilage Defects

Video Journal of Sports Medicine
Background: Multifocal cartilage defects about the knee have become increasingly prevalent. When left untreated, these injuries may progress to diffuse knee osteoarthritis.
Hannah L. Terry BS, Lilah Y.Z. Isenberg BS, Andreas H. Gomoll MD, Sabrina M. Strickland MD   +3 more
doaj   +1 more source