Results 141 to 150 of about 2,548,288 (258)

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

Subcapsular Hepatic Hematoma Secondary to Preeclampsia With a Successful Maternal Outcome: A Case Report. [PDF]

Cureus
Sadek Azar R, Leon Turriza JM, Velazquez Tass R, Sosa Montejo RG.   +3 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

Association of assisted reproductive technology with adverse maternal outcome: A cohort study. [PDF]

Pak J Med Sci
Liu Z, Yu L, Kang X, Zhang Y, Yan J.
europepmc   +1 more source

Shock Index in the Prediction of Adverse Maternal Outcome. [PDF]

J Obstet Gynaecol India, 2020
Chaudhary M, Maitra N, Sheth T, Vaishnav P.   +3 more
europepmc   +1 more source

The Cycle to Respectful Care: A Qualitative Approach to the Creation of an Actionable Framework to Address Maternal Outcome Disparities. [PDF]

Int J Environ Res Public Health, 2021
Green CL, Perez SL, Walker A, Estriplet T, Ogunwole SM, Auguste TC, Crear-Perry JA.   +6 more
europepmc   +1 more source

Maternal smoking during pregnancy and birthweight - A propensity score matching approach [PDF]

There is accumulated evidence of the existence of a deleterious effect of smoking on birth outcomes. Understanding the effect of smoking on pregnancy is a critical issue because of the public policy implications for dissuading maternal smoking.
Ronald P. Wilder, Paula Veiga
core  

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Mode of delivery and maternal outcome in subsequent delivery after an obstetric anal sphincter injury: a Finnish retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Ristilä E, Palomäki O, Huhtala H, Toivonen E.   +3 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source