Results 111 to 120 of about 1,362,134 (339)

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

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source

Signs and symptoms indicative of community-acquired pneumonia in infants under six months

Brazilian Journal of Infectious Diseases
OBJECTIVE: Evaluation of the clinical signs and symptoms predicting bacterial and viral pneumonia, in accordance with the Brazilian National Control Program for Acute Respiratory (ARI). METHODS: Observational prospective study.
Maria de Fátima Bazhuni Pombo March, Clemax Couto Sant'Anna   +1 more
doaj   +1 more source

Application of metabolomics in viral pneumonia treatment with traditional Chinese medicine

Chinese Medicine, 2019
Nowadays, traditional Chinese medicines (TCMs) have been reported to provide reliable therapies for viral pneumonia, but the therapeutic mechanism remains unknown.
Lili Lin, Hua Yan, Jiabin Chen, Huihui Xie, Linxiu Peng, Tong Xie, Xia Zhao, Shouchuan Wang, Jinjun Shan   +8 more
doaj   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Investigation into the Causes and Severity of the 1918 Influenza Pandemic [PDF]

, 2018
The 1918 Influenza outbreak is regarded as one of the worst pandemics in human history due to its widespread effects across the globe and its high death rate.
Freedenberg, Alex T.
core   +1 more source

Case‐Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease

Arthritis &Rheumatology, EarlyView.
Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc), with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to US Food and Drug Administration–approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of ILDs of other systemic autoimmune
Nina Goldman, Voon Ong, Christopher P. Denton   +2 more
wiley   +1 more source

Radiology of viral pneumonia

Вестник рентгенологии и радиологии, 2016
Objective: to evaluate the clinical and radiological features of viral pneumonia caused by influenza A (H1N1) in 2015–2016.Material and methods. The study involved 22 patients (13 men, 9 women, 1 patient died) with viral pneumonia caused by influenza A ...
A. A. Speranskaia, L. N. Novikova, O. P. Baranova, M. A. Vasilieva   +3 more
doaj   +1 more source

Clinical pharmacology and prescribing education: An updated medical school curriculum from the British Pharmacological Society

British Journal of Clinical Pharmacology, EarlyView.
Aims Prescribing is a complex, essential skill that doctors must acquire to practice medicine safely and effectively. The British Pharmacological Society has historically provided a core curriculum to guide clinical pharmacology and prescribing education in UK medical schools.
Dagan O. Lonsdale, Clare Guilding, Jennifer Koenig, Michael Okorie, Reecha Sofat, Simon Maxwell   +5 more
wiley   +1 more source

Distinguishing types and severity of pediatric pneumonia using modified lung ultrasound score

Frontiers in Pediatrics
ObjectiveThis study aimed to investigate the diagnostic utility of the modified lung ultrasound score (MLUS) in distinguishing between Mycoplasma pneumonia and viral pneumonia in children and evaluate their severity.MethodsA prospective collection of 137
Wen Xie, Junxian Ruan, Qiuxia Jiang, Jingyang Zheng, Weiru Lin, Guorong Lyu, Guorong Lyu   +6 more
doaj   +1 more source