Results 201 to 210 of about 1,850,016 (315)

Silicosis, Sarcoidosis, and Silicosarcoidosis Are Overlapping Diagnoses and Difficult to Differentiate

American Journal of Industrial Medicine, EarlyView.
ABSTRACT We evaluated 12 workers with documented exposure to respirable crystalline silica who were referred to a tertiary care center due to clinical suspicion of silicosis, sarcoidosis, or silicosarcoidosis. Although silica exposure is a well‐established risk factor for silicosis and has been associated with autoimmune diseases, mycobacterial ...
Guilherme Ward Leite, Eduardo Kaiser Ururahy Nunes Fonseca, Rodrigo Caruso Chate, Lavinia Clara Del Roio, Sofia de Paiva Memento Machado, Jefferson Benedito de Freitas, Ronaldo Adib Kairalla, Mário Terra‐Filho, Ubiratan Paula Santos, Rafael Futoshi Mizutani   +9 more
wiley   +1 more source

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

High frequency oscillatory ventilation versus conventional mechanical ventilation in pediatric acute respiratory distress syndrome: A randomized controlled study.

Turkish Journal of Pediatrics, 2017
A. El-Nawawy, A. Moustafa, H. Heshmat, Ahmed Abouahmed   +3 more
semanticscholar   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Experimental study on variable frequency control and air leakage control of multi-fan combination in subway tunnels. [PDF]

Sci Rep
Ying G, Wenqing P, Shiqiang C, Jiawei W, Ying C.   +4 more
europepmc   +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

High-Frequency Oscillatory Ventilation Use and Severe Pediatric ARDS in the Pediatric Hematopoietic Cell Transplant Recipient

Respiratory care, 2017
C. Rowan, A. Loomis, J. McArthur, L. Smith, S. Gertz, J. Fitzgerald, M. Nitu, E. Moser, D. Hsing, C. Duncan, K. Mahadeo, J. Moffet, M. Hall, E. L. Pinos, R. Tamburro, I. Cheifetz   +15 more
semanticscholar   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Characteristics of the sleep structure in the cleaner wrasse Labroides dimidiatus. [PDF]

Zoological Lett
Yoshida M, Izumi A, Sogawa S, Awata S, Kohda M.   +4 more
europepmc   +1 more source