Results 101 to 110 of about 14,733 (253)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

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, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

A comprehensive proteome and phosphoproteome atlas across nine organs of the Chinese hamster

Animal Models and Experimental Medicine, EarlyView.
This study presents the first comprehensive proteome and phosphoproteome atlas of the Chinese hamster across nine organs (heart, liver, lung, kidney, spleen, cerebral cortex, skeletal muscle, stomach, and testis or ovary). A total of 14 219 proteins were identified in the proteome, with 11 828 phosphorylated proteins and 47 122 phosphorylation sites ...
Luyao Zhang, Tao Ding, Wanjun Peng, Jie Kong, Xiaoyue Tang, Jiyu Xu, Qiaochu Wang, Zhiyi Zhang, Chunmei Shi, Yizhuo Tian, Huilan Yang, Yehong Yang, Yue Wu, Xiaoyan Liu, Jiangfeng Liu, Juntao Yang   +15 more
wiley   +1 more source

Intramuscular levothyroxine: a solution to a mental health related thyroid crisis. [PDF]

BMJ Case Rep, 2019
Laycock K, Beale C, Peters C, Anderson J.   +3 more
europepmc   +1 more source

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen, Gunjan Chauhan, Surbhi Soni, Monika Vats, Anand Kumar, Indra Bahadur   +5 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source