Results 51 to 60 of about 68,079 (217)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

AORTIC ARCH CALCIFICATION IN HYPERTENSIVE PATIENTS WITH CHRONIC KIDNEY DISEASE [PDF]

Romanian Journal of Medical Practice, 2019
Introduction. Vascular calcification is an independent risk factor related to cardiovascular mortality in CKD patients. Advanced aortic arch calcification assessed by semi-quantitative estimation on posteroanterior chest X-ray is a strong independent ...
Claudia Floriana Suciu, Andreea Varga, Corneliu Florin Buicu, Valeria Herdea, Toader Septimiu Voidazan, Ioan Tilea   +5 more
doaj   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

An unusual right vertebral artery variation accompanying to bovine arch: A case report

Archives of Clinical and Experimental Surgery, 2017
In a 74-year old male patient, brachiocephalic trunk and left common carotid artery are sharing a common root (bovine arch) and right vertebral artery (VA) variation was detected incidentally during computed tomography angiography for occlusion of common
Alaaddin Nayman, Zeliha Fazliogullari, Ahmet Kagan Karabulut, Cihat Gun, Ghulam Nabi   +4 more
doaj   +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

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

Endovascular repair of a type B aortic dissection with a right-sided aortic arch: case report

Journal of Cardiothoracic Surgery, 2013
Right-sided aortic arch is a rare anomaly, and aortic dissection involving a right-sided aortic arch is extremely rare. We report the case of a 65-year-old man with a right-sided aortic arch and a right descending aortic dissection and a stent-graft was ...
Zhou Weimin
doaj   +1 more source

Right upper lobectomy in lung cancer with double aortic arch: A case report

Thoracic Cancer, 2020
Double aortic arch (DAA) is a rare congenital anomaly of the heart and aorta in which a vascular ring that surrounds the trachea and esophagus is formed.
Nobutaka Kawamoto, Riki Okita, Hidetoshi Inokawa, Masataro Hayashi, Masashi Furukawa, Masanori Okada, Kazunori Okabe   +6 more
doaj   +1 more source

A high‐fat diet with vitamin D and propylthiouracil produces a pro‐atherogenic phenotype in rats

Animal Models and Experimental Medicine, EarlyView.
Male Sprague–Dawley rats received a cholesterol‐rich high‐fat diet supplemented with vitamin D and propylthiouracil for 11 weeks. The model induced dyslipidemia (increased total cholesterol/low‐density lipoprotein, decreased triglycerides), inflammation (increased interleukin‐6 and serum amyloid A), hypercalcemia, and reduced circulating endothelial ...
Angélique Lewies, Vitaris Kodogo, Johannes Frederik Wentzel, Francis Edwin Smit   +3 more
wiley   +1 more source

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source