Results 101 to 110 of about 1,672,166 (295)

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

Hypoproteinemia as a marker of acute respiratory distress syndrome in critically ill patients with pulmonary edema [PDF]

, 2002
Syafri Kamsul Arif, Joanne Verheij, Johan Groeneveld, Pieter G. Raijmakers   +3 more
openalex   +1 more source

PRS52 RAPID Review of ACUTE Respiratory Distress Syndrome in Adults. [PDF]

, 2020
C. Springate, Anne‐Céline Martin, B. Ghosh, H Gould, Henry E. Rice, L. Rutherford, Alain Furber   +6 more
openalex   +1 more source

Pathological findings of COVID-19 associated with acute respiratory distress syndrome

The Lancet Respiratory Medicine, 2020
Zhe Xu, Lei Shi, Yijin Wang, Jiyuan Zhang, Lei Huang, Chao Zhang, Shuhong Liu, Peng Zhao, Hongxia Liu, Li Zhu, Y. Tai, Changqing Bai, T. Gao, Jinwen Song, P. Xia, Jinghui Dong, Jingmin Zhao, Fu-Sheng Wang   +17 more
semanticscholar   +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

Recruitment maneuvers in patients with acute respiratory distress syndrome: a systematic review and metanalysis [PDF]

Einstein (São Paulo)
Objective: To systematically review the effects of recruitment maneuvers on patients with acute respiratory distress syndrome. Methods: This systematic review and meta-analysis using the PICO methodology with keywords (respiratory distress syndrome ...
Alice Cardoso de Jesus, Arthur Marchesini de Figueiredo, André Luiz Lisboa Cordeiro   +2 more
doaj   +1 more source

The changes in biomarkers for necrotising enterocolitis in premature calves with respiratory distress syndrome [PDF]

, 2019
Ramazan Yıldız, Mahmut Ok, Merve İder, Aybars Akar, Amir Naseri, Erman Koral   +5 more
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Vascular ring formed by right aortic arch with aberrant left subclavian artery and left ligamentum arteriosum: a rare cause of respiratory distress in newborn infants

The Turkish Journal of Pediatrics, 1999
Vascular ring, in which the trachea and esophagus are completely surrounded by vascular structures, is one of the causes of respiratory distress in children.
N Ceviz, S Ozer, C Ikizler
doaj  

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