Results 251 to 260 of about 134,841 (335)

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Correction to "Size Distribution Measurement of Insoluble Particles in PM2.5 Dispersed in Cell Culture Medium Using Aerosolization Techniques". [PDF]

ACS Omega
Kuruma Y, Sakurai H, Okuda T.
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

The Children's Hospitals in Africa Mapping Project (CHAMP) survey: Facilities, equipment, supplies, infrastructure, and capacity to respond to emergencies. [PDF]

PLOS Glob Public Health
Bhardwaj V, Stanberry LR, LaRussa P, James W, Mahida M, Kanyamuhunga A, Tekleab AM, Omoigberale A, Ngwenya C, Musorewegomo D, Joel D, Mupere E, Eki-Udoko FE, Bousquet H, Buys H, Mujuru HA, Lagunju IO, Marete I, Zawolo J, Mwansa JK, Chava JT, Baysah MK, Mudany MA, Ngum NBY, Bell NVT, Bayani O, Samia P, Nduati R, Miti S, Grodman SZ, Mosalakatane TD, Abebe W, Coovadia A.   +32 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Continuous and noninvasive respiratory effort monitoring: a narrative review of emerging techniques. [PDF]

J Intensive Care
Graßhoff J, Warnaar RSP, Donker DW, Rostalski P, Oppersma E.   +4 more
europepmc   +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

Understanding sepsis: patient education series. [PDF]

Trauma Surg Acute Care Open
Hashim YM, Margulies DR.
europepmc   +1 more source

Hemophagocytic Macrophages in the Peripheral Blood of a Critically Ill Patient With COVID‐19 and RSV Infection

American Journal of Hematology, EarlyView.
Ashik Zala, Ahmed Sadek, Ahmed Elsaid, Ketan C. Patel, Maximiliano Ramia De Cap, Barbara J. Bain   +5 more
wiley   +1 more source

Severity and factors associated with pain in patients on mechanical ventilators in Amhara region, North-West Ethiopia: a multi-center prospective observational study. [PDF]

Sci Rep
Asmare TB, Gobezie NZ, Wubet HB, Diress GM, Abuhay AG, Melesew AA, Afework WA, Damtie DG, Tadesse MA, Abate AT, Misker AD, Siyoum TM, Mekuriaw BY, Gedefaw GD.   +13 more
europepmc   +1 more source