Results 21 to 30 of about 1,419 (159)

Genetic and molecular architecture of familial hypercholesterolemia

Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023
Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
wiley   +1 more source

Bilateral Corneal Arcus In Canine [PDF]

Acta Scientiae Veterinariae, 2020
Background: The cornea is a component of the animal’s eye that is transparent in appearance because of the arrangement of collagen fibrils and the absence of vascularization and pigmentation. Corneal degeneration can result in a lesion known as corneal arcus, which presents as loss of transparency.
Ramos, Lais Caroline Gomes, Cunha, Tiago Oliveira, Nascimento, Gustavo De Oliveira, Leite, Lylian Theresa Belizário, Gomes, Luedja Carla Vidal Monteiro, de Souza, Almir Pereira   +5 more
openaire   +2 more sources

Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early‐Onset Coronary Artery Disease Patients

Cardiology Research and Practice, Volume 2023, Issue 1, 2023., 2023
Definitive diagnosis of familial hypercholesterolemia (FH) is paramount for the risk management of patients and their relatives. The present study aimed to investigate the frequency of gene variants contributing to low‐density lipoprotein cholesterol (LDL‐C) metabolism and their clinical relevance in patients with early‐onset coronary artery disease ...
Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fukuda, Stefan Simovic   +12 more
wiley   +1 more source

Cornea plana in a family from Pakistan: Case series and literature review on the principles of management

Oman Journal of Ophthalmology, 2023
Cornea plana (CP) is a rare ocular condition existing in two distinct clinical and hereditary forms: a milder, autosomal dominant type I and a more severe, autosomal recessive type II.
Taimoor Ashraf Khan, Sheharyar Zameer, Teyyeb Azeem Janjua, Muhammad Abdullah Zahid, Amjad Akram, Naafiah Khalid Mallick   +5 more
doaj   +1 more source

The Association of Thyroid‐Stimulating Hormone (TSH) Levels and Lipid Profile in Euthyroid Patients with Familial Hypercholesterolemia

BioMed Research International, Volume 2023, Issue 1, 2023., 2023
Previous studies reported a relationship between thyroid‐stimulating hormone (TSH) and low‐density lipoprotein cholesterol (LDL‐C) levels. In this study, we aim to evaluate the impact of TSH levels on lipid profile in patients with familial hypercholesterolemia (FH) and euthyroid state. Patients were selected from the Isfahan FH registry.
Maryam Heidarpour, Parastesh Rezvanian, Mohammad Amin Sadri, Parsa Keshavarzrad, Rezvan Zakeri, Omid Vakilbashi, Davood Shafie, Masood Shekarchizadeh, Sonia Zarfeshani, Najmeh Rabbanipour, Jamshid Najafian, Golnaz Vaseghi, Nizal Sarrafzadegan, Ali Imran   +13 more
wiley   +1 more source

The Relation of Corneal Arcus With Cardiovascular Diseases: A Systematic Review. [PDF]

Cureus
The prognostic value of corneal arcus (arcus senilis) for cardiovascular disease (CVD) remains debated. We evaluated associations of arcus with cardiometabolic risk, prevalent CVD, and incident events, and summarized how consistently studies adjusted for standard risk factors.
Bonajmah H, Aljassar F, Bulbanat A, Almutairi R.   +3 more
europepmc   +3 more sources

Relations of physical signs to genotype, lipid and inflammatory markers, coronary stenosis or calcification, and outcomes in patients with heterozygous familial hypercholesterolemia

Journal of Translational Medicine, 2021
Background Although the presence of physical signs [tendon xanthomas and/or corneal arcus (TX/CA)], are associated with the risk of coronary artery disease in patients with heterozygous familial hypercholesterolemia (HeFH), their relationship with ...
Ming-Ming Liu, Jia Peng, Yuan-Lin Guo, Cheng-Gang Zhu, Na-Qiong Wu, Rui-Xia Xu, Qian Dong, Jian-Jun Li   +7 more
doaj   +1 more source

Corneal Haze and Peripheral Corneal Arcus in a Young Patient: Lecithin-Cholesterol Acyltransferase Deficiency

Türk Oftalmoloji Dergisi, 2014
A 23-year-old female patient applied to our clinic with the complaints of color changes in both of her corneas. Ophthalmological examination revealed 20/20 vision in both eyes.
Hüseyin Mayalı, Şaban Kılıç, Çağdaş Cansız, Mehmet Şirin Türkoğlu, Esin Fatma Başer   +4 more
doaj   +1 more source

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia

BMC Medicine, 2023
Background Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease ...
Zhiyong Du, Fan Li, Long Jiang, Linyi Li, Yunhui Du, Huahui Yu, Yan Luo, Yu Wang, Haili Sun, Chaowei Hu, Jianping Li, Ya Yang, Xiaolu Jiao, Luya Wang, Yanwen Qin   +14 more
doaj   +1 more source

Multimodal Imaging Features of Schnyder Corneal Dystrophy

Journal of Ophthalmology, 2020
Objective. To describe the multimodal imaging of Schnyder corneal dystrophy. Methods. Seven eyes of seven patients (5 female and 2 male patients) aged 52 to 92 years were included in this prospective observational study. Diagnosis of SCD was confirmed by
Wassim Ghazal, Cristina Georgeon, Kate Grieve, Nacim Bouheraoua, Vincent Borderie   +4 more
doaj   +1 more source