Results 191 to 200 of about 860,594 (296)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Does a prior COVID-19 infection affect lung dynamics during thoracic anesthesia? [PDF]

BMC Anesthesiol
Asiller ÖÖ, Güçlü ÇY, Erkoç SK, Genç A, Balcı BMK, Yenigün B, Kahya Y, Turan BK, Kurtaiş Y.   +8 more
europepmc   +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

Research on the dust transportation law and cyclone air curtain dust control technology of coalface. [PDF]

Sci Rep
Zhao X, Wang H, Wang J.
europepmc   +1 more source

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

Staged and geometry-adapted support for coal mine roadways under weak rock conditions: a numerical study. [PDF]

Sci Rep
Guo Y, Ma Q, Zhong S.
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

Modeling and analysis of the risk evolution for coal mine gas explosion from the perspective of safety information loss. [PDF]

Sci Rep
Guo H, Cheng L, Jiang M.
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

Preferences for mechanical ventilation modes among intensivists in Türkiye: a nationwide point-prevalence study. [PDF]

Turk J Med Sci
Yildirim S, Kilinç Özgün N, Alpdoğan Ö, Uçar H, Taşkiran İ, Ata A, Özcan Ö, Öncü K, Acarbay SM, Güner T, Özgün P, Özçelik Z, Çinaroğlu A, Kurada G, Avlaği LS, Gökçe O, Yilmaz Çolak Ö, Ülger F, Işevi M, Kiliç Ö, Aydin Kayali R, Yarici M, Küçük B, Yildirim F, Gönderen K, Ergün B, Aydin K, Uluç K, Onuk S, Altinkaya Çavuş M, Balik Y, Sari A, Cankar Dal H, Gökbulut Bektaş Ş, Turan S, Demirer Aydemir F, Güneş M, Gürsoy C, Yilmaz HO, Inci K, Akbaş T, Gültekin H, Acar Çinleti B, Mengi T, Aydin K, Çetinkaya F, Eyüpoğlu S, Kerimoğlu E, Özkök H, Yaylaci S, Kocayiğit H, Kaya B, Erdemir M, Taşkin G, Rollas K, Özkarakaş H, Çakirgöz M, Kirakli C.   +57 more
europepmc   +1 more source