Association Between Decline in Slow Vital Capacity and Respiratory Insufficiency, Use of Assisted Ventilation, Tracheostomy, or Death in Patients With Amyotrophic Lateral Sclerosis [PDF]
, 2017 Jinsy Andrews +7 more
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Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. [PDF]
Ann Rehabil Med, 2020 Park J, Kang SW, Choi WA, Lee Y, Cho HE.
europepmc +1 more source
Subcellular proteomics combined with bioenergetic phenotyping reveals protein biomarkers of respiratory insufficiency in the setting of proofreading-deficient mitochondrial polymerase. [PDF]
Sci Rep, 2020 McLaughlin KL +3 more
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Understanding Respiratory Restrictions as a Function of the Scoliotic Spinal Curve in Thoracic Insufficiency Syndrome: A 4D Dynamic MR Imaging Study [PDF]
, 2018 Jayaram K. Udupa +8 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Survey on Awareness of the Need for Advance Care Planning (ACP) Among Medical Service Providers in the Chronic Illness Field in Japan: From the Results of a Questionnaire Survey Conducted with Doctors and Nurses Dealing with Healthcare Provision for Renal, Cardiac and Respiratory Insufficiency [PDF]
, 2018 Morita Minako +7 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). [PDF]
Ann Rehabil Med, 2020 Park J, Kang SW, Choi WA, Lee Y, Cho HE.
europepmc +1 more source
Acute Respiratory Insufficiency in Patients with Acute Type B Aortic Dissection: An Indication for Urgent Intervention [PDF]
, 2018 Mohammad Raffat Jaber
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