Results 91 to 100 of about 3,936,779 (293)

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

Case Reports in Genetics
Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro   +7 more
doaj   +1 more source

The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue [PDF]

, 1955
Victor A. McKusick
openalex   +1 more source

High‐Efficacy Treatment in Neuromyelitis Optica Specturm Disorder Patients With Seropositive AQP4 Antibodies—A Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li, Binbin Xue, Jia Li, Dewei Xie, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Xu Zhang, Junhui Xia, Jie Lin   +10 more
wiley   +1 more source

Breastfeeding in children with down syndrome

BMC Pediatrics
Introduction Babies with Down syndrome (DS) present physical characteristics that can make breastfeeding difficult, including hypotonia of the muscles of the oral cavity and pharynx which can create problems with sucking and swallowing. Breastfeeding has
Alejandra Ochoa Rodríguez, Silvestre García de la Puente, Karla Adney Flores Arizmendi, Tania Tonantzin Vargas Robledo   +3 more
doaj   +1 more source

Myalgic Syndrome with Constitutional Effects: Polymyalgia Rheumatica [PDF]

, 1957
H. S. Barber
openalex   +1 more source

The Road Not Taken: Misclassifying an Anti‐Seizure Medication as a Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify how often anti‐seizure medications (ASMs) appear ineffective yet provide benefit when considering seizure frequency (SF) variability. Methods We used the CHOCOLATES seizure diary simulator to generate 100,000 patient seizure diaries that reflect natural SF variation in a heterogeneous population.
Christopher N. Henry, Daniel M. Goldenholz   +1 more
wiley   +1 more source

Exploring if Longitudinal Changes on PET Imaging Can Serve as a Biomarker for Stiff Person Syndrome Spectrum Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify metabolic patterns in the brain and musculoskeletal system of stiff person syndrome spectrum disorders (SPSD) patients over time using PET imaging and evaluate the impact of immune therapy on metabolic activity as a surrogate for treatment response.
Munther M. Queisi, Samantha N. Roman, Mohammad S. Sadaghiani, Lilja B. Solnes, Scott D. Newsome   +4 more
wiley   +1 more source

Reply to: vitamin D supplementation and hemoglobin: dosing matters in prevention/treatment of anemia

Nutrition Journal, 2021
Seyyed Mostafa Arabi, Golnaz Ranjbar, Leila Sadat Bahrami, Abdolreza Norouzy   +3 more
doaj   +1 more source

JC virus-associated central nervous system diseases in HIV-infected patients in Brazil: clinical presentations, associated factors with mortality and outcome

Brazilian Journal of Infectious Diseases
INTRODUCTION: Several presentations of neurologic complications caused by JC virus (JCV) in human immunodeficiency virus (HIV)-infected patients have been described and need to be distinguished from the "classic" form of progressive multifocal ...
Felipe Piza, Maria Cristina Fink, Gilberto S. Nogueira, Claudio S. Pannuti, Augusto C. Penalva de Oliveira, José Ernesto Vidal   +5 more
doaj   +1 more source

A method for the quantitative fractionation of urinary 17-oxo steroids with some observations on steroid excretion during administration of ACTH and in the adrenogenital syndrome [PDF]

, 1958
R. V. Brooks
openalex   +1 more source