Results 81 to 90 of about 122,451 (285)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Late-Onset Sepsis in a Premature Infant Mediated by Breast Milk: Mother-to-Infant Transmission of Group B Streptococcus Detected by Whole-Genome Sequencing

Infection and Drug Resistance, 2022
Aiyun Li,1,* Ming Fang,2,* Dongjie Hao,1 Qiaoai Wu,1 Yaqi Qian,1 Hao Xu,3,4 Bo Zhu1 1Department of Clinical Medicine, The Women’s Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, People’s Republic of China; 2Institute of ...
Li A, Fang M, Hao D, Wu Q, Qian Y, Xu H, Zhu B   +6 more
doaj  

Characteristics Overview of Mother with Perinatal Death at Dr. Soetomo Hospital in 2015 [PDF]

, 2016
Objectives: to determine the frequency distribution of perinatal mortality and maternal characteristic features in terms of age, parity, gestational age and pregnancy complications in Dr.Soetomo Hospital Surabaya in 2015.
Haslinda, Y. (Yulisa), Prasetyo, B. (Budi)   +1 more
core  

The burden of premature mortality in Poland analysed with the use of standard expected years of life lost [PDF]

, 2015
Background: Despite positive changes in the health of the population of Poland, compared to the EU average, the average life expectancy in 2011 was 5 years shorter for males and 2.2 years shorter for females.
Bryła, Marek, Bryła, Paweł, Maniecka-Bryła, Irena, Pikala, Małgorzata   +3 more
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Pediatric Specialists' Beliefs About Gastroesophageal Reflux Disease in Premature Infants [PDF]

Pediatrics, 2010
BACKGROUND: Wide variation exists in the treatment of suspected gastroesophageal reflux disease (GERD) in premature infants; it is unknown to what degree diagnosis and treatment are affected by the treating physician's medical specialty or interpretation of the medical literature.
Catherine A. Golski, Catherine A. Golski, Sarah Worley, Scott H. Frank, Richard J. Martin, Richard J. Martin, Anna Maria Hibbs, Anna Maria Hibbs, Zhiyuan Sun, Ellen S. Rome, Ellen S. Rome   +10 more
openaire   +3 more sources

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Monitoring cardiovascular function in infants with chronic lung disease of prematurity [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2002
In addition to persistent airways disease, survivors of premature birth with chronic lung disease are at risk of cardiovascular sequelae, including pulmonary hypertension, systemic hypertension, left ventricular hypertrophy, and exercise intolerance. The major treatment of pulmonary hypertension is supplemental oxygen, but drugs such as calcium channel
openaire   +3 more sources

Ambient Air Toxic Releases and Adverse Pregnancy Outcomes in Allegheny County, Pennsylvania [PDF]

, 2009
Previous studies have shown that women exposed to certain air pollutants are at an increased risk for preterm delivery and/or delivering a low birth weight newborn. Preterm delivery and low birth weight are associated with an increased risk for morbidity
Carman, April E
core