Results 81 to 90 of about 173,111 (298)

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

Factors associated with cardiovascular events after simultaneous liver–kidney transplant from the US Multicenter Simultaneous Liver–Kidney Transplant Consortium

Hepatology Communications, EarlyView., 2022
Abstract Cardiovascular disease is a leading complication after both liver and kidney transplantation. Factors associated with and rates of cardiovascular events (CVEs) after simultaneous liver–kidney transplant (SLKT) are unknown. This was a retrospective cohort study of adult SLKT recipients between 2002 and 2017 at six centers in six United Network ...
Jennifer Jo, Gonzalo Crespo, Dyanna Gregory, Jasmine Sinha, Jiaheng Xie, Min Zhang, John Magee, Pranab Barman, Yuval A. Patel, Aaron Schluger, Kara Walters, Scott Biggins, Natalia Filipek, Giuseppe Cullaro, Randi Wong, Jennifer C. Lai, Gabriel J. Perreault, Elizabeth C. Verna, Pratima Sharma, Lisa B. VanWagner   +19 more
wiley   +1 more source

Presence Of A Congenitally Bicuspid Aortic Valve Among Patients Having Combined Mitral And Aortic Valve Replacement [PDF]

, 2012
Although bicuspid aortic valve occurs in an estimated 1% of adults and mitral valve prolapse in an estimated 5% of adults, occurrence of the 2 in the same patient is infrequent.
Hamman, Baron Lloyd, Hebeler, Robert Frederick, Janning, Kaitlin Georgeanne, Ko, Jong Mi, Roberts, William Clifford, Vowels, Travis James   +5 more
core   +1 more source

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

Pattern of Cardiovascular Diseases Among Elderly Patients Admitted in Medical Wards at Muhimbili National Hospital Dar es salaam Tanzania [PDF]

, 2011
Cardiovascular disease is the most frequent cause of death in persons over the age 50 years and most importantly it is responsible for considerable morbidity and large burden of disability in the community. Cardiovascular diseases are an increasing cause
Kisenge, Peter Richard
core  

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

Hemodynamic Influence of Different Pulmonary Stenosis Degree in Glenn Procedure: A Numerical Study

Advances in Mechanical Engineering, 2014
Background . Single ventricle disease is treated by Glenn surgery. It is generally accompanied by stenosis on a pulmonary artery or its branches, which has great effect on hemodynamics.
Liancai Ma, Youjun Liu, Xi Zhao, Xiaochen Ren, Fan Bai, Jinli Ding, Mingzi Zhang, Wenxin Wang, Jinsheng Xie, Hao Zhang, Zhou Zhao, Hua Han   +11 more
doaj   +1 more source

Balloon Angioplasty as a Modality to Treat Children with Pulmonary Stenosis Secondary to Complex Congenital Heart Diseases

Chinese Medical Journal, 2017
Background: Pulmonary stenosis is common in children with complex congenital heart diseases. Proper management of this problem, especially postoperatively, is still controversial.
Yan Gu, Mei Jin, Xiao-Fang Wang, Bao-Jing Guo, Wen-Hong Ding, Zhi-Yuan Wang, Ya-Hui Zhang   +6 more
doaj   +1 more source

Prevalence and pattern of congenital heart disease among neonates in Gorgan, Northern Iran (2007-2008) [PDF]

, 2011
Objective: Congenital heart disease (CHD) is the most common congenital anomaly newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. Methods: 11739
Golalipour, M.J., Mirfazeli, A., Nikyarspi-Sup, B., Qourbani, M., Sedehi, M.   +4 more
core  

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