Results 191 to 200 of about 3,411,554 (367)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

open access: yesHepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Macrophage‐derived MLKL in alcohol‐associated liver disease: Regulation of phagocytosis

open access: yesHepatology, EarlyView., 2022
EtOH causes leaky gut allowing bacteria and PAMPs into the liver, resulting in hepatic inflammation and injury. We demonstrate that LPS induces STAT1‐mediated expression and phosphorylation of MLKL in macrophages and identify a novel function that myeloid MLKL translocates to phagosomes and lysosomes and regulates phagocytosis, which contributes to the
Xiaoqin Wu   +16 more
wiley   +1 more source

Assessment of musculoskeletal disorders among cricketers playing in domestic clubs of Lahore

open access: gold, 2022
Abdullah Munir   +5 more
openalex   +1 more source

An in vivo assay for osteoclast activity using mouse calvaria

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study describes a novel method for measuring osteoclast‐mediated bone resorption in vivo using a mouse model. Localized injection of RANKL in a basement membrane matrix above the cranium induced osteoclast‐mediated bone resorption. Utilizing micro‐computed tomography and a semiautomated three‐dimensional analysis program, osteoclast resorption pit
Christopher Grieg   +2 more
wiley   +1 more source

Multimorbidity and animal models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang   +7 more
wiley   +1 more source

A Study on Musculoskeletal Disorders and Personal and Occupational Risk Factors among Surgeons

open access: yesعلوم بهداشتی ایران, 2013
Background and purpose: Surgery is a high risk profession owing to musculoskeletal disorders (MSDs). Fine and precise operations cause surgeons to adopt prolonged fixed posture.
A Tirgar, Sh Khallaghi, M Taghipour
doaj  

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