Results 211 to 220 of about 551,358 (298)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Flow-controlled ventilation versus pressure-controlled ventilation in moderate to severe ARDS patients: a randomized crossover physiological study. [PDF]

Intensive Care Med Exp
van Oosten JP, Francovich JE, Weller D, Rietdijk W, Goedendorp N, Somhorst P, den Uil CA, Gommers D, Jonkman AH, Endeman H.   +9 more
europepmc   +1 more source

Pressure support ventilation improves ventilation during inhalational induction of anesthesia in children: A pilot study

Viviane Lauret, Claude Guérin, Sirine Boussena, Mathilde De-Queiroz, Lionel Bouvet, Florent Baudin   +5 more
openalex   +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

Monitoring of invasive assisted mechanical ventilation: a good clinical practice document by the Italian Society of Anesthesia, Analgesia, Resuscitation, and Intensive Care (SIAARTI). [PDF]

J Anesth Analg Crit Care
Colombo D, Ippolito M, Bellani G, Battaglini D, Cammarota G, Cortegiani A, Giarratano A, Grasso S, Maggiore SM, Mirabella L, Navalesi P, Rauseo M, Simonte R, Spadaro S, Spinazzola G, Grasselli G.   +15 more
europepmc   +1 more source

Enhanced ventilation of Eastern North Atlantic Oxygen Minimum Zone with deglacial slowdown of Meridional Overturning [PDF]

Sofía Bar­ra­gán-Mon­til­la, Heather Johnstone, Stefan Mulitza, Dharma Reyes‐Macaya, Babette Hoogakker, Heiko Pälike   +5 more
openalex   +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

Use of intensive care unit versus dedicated ventilators for noninvasive ventilation in China: A secondary analysis of a prospective observational study. [PDF]

SAGE Open Med
He J, Wang K, Shu W, Hu W, Duan J.
europepmc   +1 more source

Non-invasive Home Mechanical Ventilation: Qualification, Initiation, and Monitoring

, 2012
Mike J. Kampelmacher
openalex   +2 more sources

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