Results 91 to 100 of about 173,062 (307)

Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019. [PDF]

J Am Heart Assoc, 2021
Downing KF, Oster ME, Klewer SE, Rose CE, Nembhard WN, Andrews JG, Farr SL.   +6 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Extremely cold and hot temperatures increase the risk of ischaemic heart disease mortality: epidemiological evidence from China.

, 2012
OBJECTIVE: To examine the effects of extremely cold and hot temperatures on ischaemic heart disease (IHD) mortality in five cities (Beijing, Tianjin, Shanghai, Wuhan and Guangzhou) in China; and to examine the time relationships between cold and hot ...
Armstrong, Ben, Guo, Yuming, Jaakkola, Jouni JK, Li, Shanshan, Pan, Xiaochuan, Tong, Shilu, Zhang, Yanshen   +6 more
core   +2 more sources

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]

, 2010
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Waldemar Bobkowski, Ryszard Slomski, Anna Latos-Bielenska, Aldona Siwinska   +13 more
core   +1 more source

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

Key Factors of Adherence in Cardiological Follow-Up of Adults with Congenital Heart Disease

Journal of Cardiovascular Development and Disease
Approximately 50% of adults with congenital heart defects (ACHD) lack specialised CHD care, increasing the risk of preventable complications and mortality.
Anna-Lena Ehmann, Emily Schütte, Janina Semmler, Felix Berger, Ulrike M. M. Bauer, Katharina Schmitt, Constanze Pfitzer, Paul C. Helm   +7 more
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

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

Mental Health Treatment in Adults with Congenital Heart Disease in Germany: An Online, Cross-Sectional Study of Status, Needs, and Treatment Reasons

Journal of Cardiovascular Development and Disease
Improved medical treatments have extended survival and life expectancy in adults with congenital heart defects (ACHD), placing greater emphasis on psychosocial health.
Anna-Lena Ehmann, Emily Schütte, Janina Semmler, Felix Berger, Ulrike M. M. Bauer, Katharina Schmitt, Constanze Pfitzer, Paul C. Helm   +7 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source