Results 111 to 120 of about 329,849 (308)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Reasons for Hospital Admissions in Chronic Hypercapnic COPD Patients on Long-Term Nocturnal Noninvasive Ventilation – A Prospective Observational Study

International Journal of COPD
Simon Koschel,1,2,* Sarah Bettina Stanzel,1,2,* Doreen Kroppen,1,2 Marieke Duiverman,3,4 Maximilian Wollsching-Strobel,1,2 Daniel Majorski,1,2 Melanie Patricia Berger,1,2 Falk Schumacher,2,5 Johannes Fabian Holle,2,6 Wolfram Windisch,1,2 ...
Koschel S, Stanzel SB, Kroppen D, Duiverman M, Wollsching-Strobel M, Majorski D, Berger MP, Schumacher F, Holle JF, Windisch W, Zimmermann M   +10 more
doaj  

Effect of inspiratory pressure support on exercise performance in patients with chronic obstructive pulmonary disease [PDF]

, 2006
Title: Effect of inspiratory pressure support on exercise performance in patients with chronic obstructive pulmonary disease. Purpose: This study examined the effects of a non-invasive ventilator on submaximal and maximal exercise performance in ...
Doggett, Anita
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

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

American 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, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 more
wiley   +1 more source

Pulmonary Function and Influencing Factor Investigation for Rural Homemakers in the Fenwei Plain, China

Toxics
To understand the pulmonary function and main influencing factors of homemakers in rural Xi’an, a representative city in Northwest China, 72 housewives (61 ± 9 years old) were randomly selected from the rural area of Lantian, Xi’an.
Rong Feng, Kaiyuan Wang, Hongmei Xu, Yunxuan Gu, Liu Yang, Jian Sun, Zhenxing Shen   +6 more
doaj   +1 more source

Methylophiopogonanone a attenuates pulmonary fibrosis by inhibiting SPP1‐mediated macrophage polarization via the PI3K/Akt pathway

Animal Models and Experimental Medicine, EarlyView.
Transcriptome sequencing identified secreted phosphoprotein 1 (SPP1) as a crucial target through which methylophiopogonanone A (MOA) ameliorates pulmonary fibrosis. Molecular docking and microscale thermophoresis (MST) assays confirmed a favorable binding affinity between MOA and SPP1.
Fan Yang, Tian Li, Weiran Jia, Dingjie Xu, Liangdan Sun, Yanlei Ge, Yiwei Shi, Hong Xu, Xudong Song, Fuyu Jin, Na Mao   +10 more
wiley   +1 more source

Application of Bedside Hypertonic Saline-contrast Electrical Impedance Tomography of Lung Perfusion in Patients After Pulmonary Endarterectomy: Two Cases and Literature Review

Xiehe Yixue Zazhi
Pulmonary electrical impedance tomography (EIT), a noninvasive, continuous, dynamic, and radiation-free bedside imaging technique for monitoring pulmonary ventilation, is now widely utilized in the diagnosis and management of critically ill patients ...
CAI Qiuyan, LIU Wanglin, CHENG Wei, LIU Jingjing, ZHANG Chaoji, LIU Jianzhou, LONG Yun, HE Huaiwu   +7 more
doaj   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source