Results 81 to 90 of about 152,646 (312)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Antegrade selective cerebral perfusion and moderate hypothermia in aortic arch surgery: clinical outcomes in elderly patients† [PDF]

, 2017
OBJECTIVES To evaluate the outcome in elderly patients (≥75 years) undergoing elective aortic arch surgery with the aid of selective antegrade cerebral perfusion (SACP) and moderate hypothermic circulatory arrest (HCA).
Carrel, Thierry, Czerny, Martin, Di Bartolomeo, Roberto, Di Marco, Luca, Englberger, Lars, Leone, Alessandro, Pacini, Davide, Sodeck, Gottfried   +7 more
core  

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +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

Automatic Segmentation of Thoracic Aorta Segments in Low-Dose Chest CT

, 2018
Morphological analysis and identification of pathologies in the aorta are important for cardiovascular diagnosis and risk assessment in patients. Manual annotation is time-consuming and cumbersome in CT scans acquired without contrast enhancement and ...
de Vos, Bob D., Isgum, Ivana, Noothout, Julia M. H., Wolterink, Jelmer M.   +3 more
core   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 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

Pulsatile blood flow-split in aortic arch dissection [PDF]

, 2012
Abnormalities of the aortic arch, as the most proximal site of the cardiovascular system, are of great interest due to its major role in blood distribution to all downstream members. Wall dissection is one of the disorders that an aorta may suffer due to
Afkari, Damon, Gabaldón Castillo, Felipe, Rodríguez Soler, Javier   +2 more
core  

Double aortic arch diagnosed in a 44-year-old woman with recurring respiratory infections [PDF]

, 2017
Complete vascular rings are originated because of the persistence of the fourth aortic arches, which surround the trachea and esophagus partially or completely, compressing them.
Fernández Tena, Ana, Martínez González, María Cristina   +1 more
core   +3 more sources

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

Animal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi   +5 more
wiley   +1 more source