Results 31 to 40 of about 1,240 (187)

Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia

JACC: Case Reports, 2020
Sitosterolemia is a rare atherogenic sterol storage disease with variability in its presentation requiring a high degree of clinical suspicion. We present 8 cases of sitosterolemia from an Amish kindred that, despite a background of decreased genetic and
Amy L. Peterson, MD, James DeLine, MD, Claudia E. Korcarz, DVM, Ann M. Dodge, RN, MSN, CPNP, James H. Stein, MD   +4 more
doaj   +1 more source

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

Journal of Nutrition and Metabolism, Volume 2022, Issue 1, 2022., 2022
Dyslipidemias or dyslipoproteinemias are quantitative changes in total cholesterol concentration, respective fractions, or triglycerides in the plasma. Evidence supported that dyslipidemia in childhood is associated with atherosclerosis in adulthood, and early identification and treatment potentially reduce cardiovascular risk in adulthood, which is ...
Sara Mosca, Graça Araújo, Vanessa Costa, Joana Correia, Anabela Bandeira, Esmeralda Martins, Helena Mansilha, Mónica Tavares, Margarida P. Coelho, Toshikazu Suzuki   +9 more
wiley   +1 more source

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

British Journal of Haematology, Volume 195, Issue 1, Page 25-45, October 2021., 2021
Summary Low platelet count, or thrombocytopenia, is a common haematological abnormality, with a wide differential diagnosis, which may represent a clinically significant underlying pathology. Macrothrombocytopenia, the presence of large platelets in combination with thrombocytopenia, can be acquired or hereditary and indicative of a complex disorder ...
Janine Collins, William J. Astle, Karyn Megy, Andrew D. Mumford, Dragana Vuckovic   +4 more
wiley   +1 more source

THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Transporters

British Journal of Pharmacology, Volume 178, Issue S1, Page S412-S513, October 2021., 2021
The Concise Guide to PHARMACOLOGY 2021/22 is the fifth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of nearly 1900 human drug targets with an emphasis on selective pharmacology (where available), plus links to the open access knowledgebase source of drug targets ...
Stephen P H Alexander, Eamonn Kelly, Alistair Mathie, John A Peters, Emma L Veale, Jane F Armstrong, Elena Faccenda, Simon D Harding, Adam J Pawson, Christopher Southan, Jamie A Davies, Laura Amarosi, Catriona M. H. Anderson, Philip Mark Beart, Stefan Broer, Paul A. Dawson, Bruno Hagenbuch, James R. Hammond, Jules C Hancox, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Gavin Stewart, David T. Thwaites, Tiziano Verri   +24 more
wiley   +1 more source

Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital. [PDF]

J Clin Med
Background: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death ...
Do TTM, Vu CD, Dien TM, Can TBN, Nguyen TTN, Nguyen HH, Tran VK, Nguyen NL, Tran HT, Mai TTC, Nguyen KN.   +10 more
europepmc   +2 more sources

Application of high‐throughput sequencing for hereditary thrombocytopenia in southwestern China

Journal of Clinical Laboratory Analysis, Volume 35, Issue 8, August 2021., 2021
A custom target enrichment library was designed to capture 21 genes known to be associated with HTs. Twenty‐four patients with an HT phenotype were studied using this technology. One pathogenic variant on the MYH9 gene and one likely pathogenic variant on the ABCG8 gene previously known to cause HTs were identified.
Luying Zhang, Jie Yu, Ying Xian, Xianhao Wen, Xianmin Guan, Yuxia Guo, Mingzhu Luo, Ying Dou   +7 more
wiley   +1 more source

Genetic basis of sitosterolemia [PDF]

Current Opinion in Lipidology, 2001
The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately 200-400 mg of non-cholesterol sterols, of which plant ...
M H, Lee, K, Lu, S B, Patel
openaire   +2 more sources

Markers of cholesterol synthesis to cholesterol absorption across the spectrum of non‐dialysis CKD: An observational study

Pharmacology Research &Perspectives, Volume 9, Issue 4, August 2021., 2021
This study tested the association between markers of cholesterol metabolism (campesterol‐to‐lathosterol) against atherosclerotic cardiovascular disease and all‐cause death in non‐dialysis CKD patients. Abstract In dialysis patients, cholesterol‐lowering therapy with statins is less effective than in other high‐risk patients.
Insa E. Emrich, Gunnar H. Heine, P. Christian Schulze, Kyrill S. Rogacev, Danilo Fliser, Stefan Wagenpfeil, Michael Böhm, Dieter Lütjohann, Oliver Weingärtner   +8 more
wiley   +1 more source

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

JIMD Reports, Volume 59, Issue 1, Page 3-9, May 2021., 2021
Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts,
Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
wiley   +1 more source

Pediatric patients with familially inherited sitosterolemia: Two case reports

Frontiers in Cardiovascular Medicine, 2022
BackgroundSitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is characterized by increased levels and accumulation of sitosterol in the plasma and local tissues.Case descriptionsThe study subjects were two siblings (brother and ...
Shun-Qing Su, Di-Sheng Xiong, Xiu-Mei Ding, Jin-An Kuang, Yue-Chun Lin   +4 more
doaj   +1 more source