Results 281 to 290 of about 674,092 (373)

Intraoperative and postprocedural respiratory disorders admissions profile: An ecological longitudinal study in England and Wales. [PDF]

Medicine (Baltimore)
Naser AY, Al Rajeh AM.
europepmc   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Acute Respiratory Distress Syndrome Molecular Phenotypes Have Distinct Lower Respiratory Tract Transcriptomes. [PDF]

Am J Respir Crit Care Med
Sarma A, Christenson SA, Shoshana BZ, Oliveira AP, Neyton LPA, Mick E, Sinha P, Wilson JG, Moazed F, Leligdowicz A, Maddali MV, Siegel ER, Lyon ZM, Carrillo SH, Zhou H, Jauregui A, Ghale R, Caldera S, Hayakawa PS, Deiss T, Love C, Byrne A, Kalantar KL, DeRisi JL, Erle DJ, Krummel MF, Kangelaris KN, Hendrickson CM, Woodruff PG, Matthay MA, Bos LDJ, Langelier CR, Calfee CS, COMET Consortium.   +33 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Association of intraoperative mechanical power of ventilation with occurrence of postoperative respiratory failure in patients undergoing major abdominal onco-surgery in a tertiary cancer centre - A prospective analytical study. [PDF]

Indian J Anaesth
Prabhakaran J, Chanduveettil J, Murugesan M, Philip S, Duraisamy K, Shringarpure K.   +5 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Life-Threatening Amlodipine Overdose: A Rare Case of Noncardiogenic Pulmonary Edema and Respiratory Failure Requiring ICU Care. [PDF]

Clin Case Rep
Pandit R, Masuta P, Regmi N, Nepali A, Acharya G, Jibran M, Maharjan H, Shrestha N.   +7 more
europepmc   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Symptomatic pulmonary cement embolism following PMMA vertebroplasty: Clinical presentation and management. [PDF]

Respir Med Case Rep
Najjar H, Neiroukh H, Saada LJM, Thalji M, Doudin K.   +4 more
europepmc   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai, Yongde Jin, Jingmei Chai, Jianing Yang, Jiangang Wang, Mu Chen, Liangchang Li, Chongyang Wang, Guanghai Yan   +8 more
wiley   +1 more source