Results 191 to 200 of about 357,051 (309)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Artificial Intelligence-Enhanced Electrocardiography and Health Records to Predict Cardiac Arrest. [PDF]

JACC Adv
Sharma S, Brody JA, Friedman SF, Magoon MJ, Maddah M, Ellinor PT, Ho JE, Guseh JS, Rea TD, Sayre MR, Shojaie A, Boyle PM, Khurshid S, Chatterjee NA.   +13 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

A Child With Abnormal Ocular Ultrasound After Out-of-Hospital Cardiac Arrest. [PDF]

J Am Coll Emerg Physicians Open
Cousin VL, Barreau E, Charbel R.
europepmc   +1 more source

Cardiac Arrest [PDF]

, 1981
Anderson, Michael
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Parent Survey: Characteristics of Sudden Cardiac Arrest in Youth. [PDF]

J Pediatr Clin Pract
Warneryd A, Chand S, Lemma A, Lopez-Anderson M, Flanagan LJ, Naim M, Vetter VL.   +6 more
europepmc   +1 more source

Celebrating 50 years of cardiopulmonary resuscitation [PDF]

, 2010
, Abella, Arshid, Aufderheide, Chamberlain, Chan, Chen, Christenson, Devita, Edelson, Edelson, Eftestol, Hallstrom, Hernandez, Hillman, Hunt, Jacobs, Kaplan, Kouwenhoven, Kramer-Johansen, Larsen, Leary, Nichol, Nichol, Nichol, Niles, Nolan, Nolan, Nolan, Nolan, Perkins, Perkins, Perkins, Querellou, Rea, Sanna, Sunde, Wayne, Yeung, Zuercher   +39 more
core   +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

Computed tomography assessment after out-of-hospital cardiac arrest resuscitation. [PDF]

Resusc Plus
Halablab SM, Shofer F, Kaviyarasu A, Mitchell OJL, Reis W, Brothers T, Fischer D, Abella BS, Greenwood J.   +8 more
europepmc   +1 more source