Results 191 to 200 of about 449,402 (268)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Intraoperative Driving Pressure-Guided High PEEP vs Standard Low PEEP for Postoperative Pulmonary Complications.

JAMA
Writing and Steering Committees for the DESIGNATION–Investigators, Dorland G, Gama de Abreu M, Hemmes SNT, Hol L, Hollmann MW, van Meenen DMP, Nijbroek SGLH, Schultz MJ, Serpa Neto A, Vermeulen TD.   +10 more
europepmc   +1 more source

Burden and outcomes of cardiovascular and pulmonary complications in adolescents and adults with sickle cell disease: a systematic review and meta-analysis. [PDF]

Syst Rev
Kaweme NM, Buttress SMN, Nguweneza A, Phiri C, Mtisi TJ, Sambo PM, Kandawasvika G, Mantina HM, Kuona P, Chunda-Liyoka CM.   +9 more
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

Postoperative pulmonary complications in acute type A aortic dissection. [PDF]

BMC Surg
Chen P, Li H, Liu C, Chen M, Zhao D, Chen L, Qian X, Pu J, Chen Z, Wang Y, Wang L.   +10 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The impact of inspiratory muscle training on pulmonary function recovery and pulmonary complications in patients undergoing cardiothoracic surgery: a systematic review and meta-analysis. [PDF]

Front Physiol
Ge Y, Zhang M, Gan Y.
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Differential association of the 5-factor modified frailty index with postoperative pulmonary complications: specific prediction of infection risk after pulmonary lobectomy. [PDF]

Front Med (Lausanne)
Zheng Q, Wu Z, Du L, Chen A, Zhou J, Shi J, Lai Y, Chen W, Ke W, Xu H.   +9 more
europepmc   +1 more source