Results 41 to 50 of about 20,467 (242)

Lipoprotein(a) in children and adolescents with genetically confirmed familial hypercholesterolemia followed up at a specialized lipid clinic

Atherosclerosis Plus
Background and aim: Many children with an FH mutation also exhibit elevated lipoprotein(a) levels, which is an independent risk factor for atherosclerotic cardiovascular disease.
Anja K. Johansen, Martin P. Bogsrud, Magne Thoresen, Jacob J. Christensen, Ingunn Narverud, Gisle Langslet, Tone Svilaas, Kjetil Retterstøl, Kirsten B. Holven   +8 more
doaj   +1 more source

Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis

Indian Journal of Dermatology, 2015
Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases.
Noha Mohammed Dawoud, Ola Ahmed Bakry, Iman Seleit   +2 more
doaj   +1 more source

Ocular manifestations of severe familial hypercholesterolemia

Heliyon
Background: To study ocular manifestations of patients with severe familial hypercholesterolemia (FH). Methods: In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial ...
Alaa Bou Ghannam, Rachid Istambouli, Mohamed S. Hamam, Jean M. Chalhoub, Akl C. Fahed, Rola N. Hamam   +5 more
doaj   +1 more source

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

Data in Brief, 2016
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age.
Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac   +3 more
doaj   +1 more source

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Biomedicines, 2022
Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease.
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli   +2 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Data on circulating leukocyte subpopulations and inflammatory proteins in children with familial hypercholesterolemia and healthy children

Data in Brief, 2017
The data in this relies on a previous publication: “Altered leukocyte distribution under hypercholesterolemia: a cross-sectional study in children with familial hypercholesterolemia” (Christensen et al. 2016) [1].
Jacob J. Christensen, Liv Osnes, Bente Halvorsen, Kjetil Retterstøl, Martin P. Bogsrud, Cecilie Wium, Arne Svilaas, Ingunn Narverud, Stine M. Ulven, Pål Aukrust, Kirsten B. Holven   +10 more
doaj   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

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

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia

Annals of Neurology, EarlyView.
The metabolic syndrome, a state of progressive metabolic dysfunction, injures the peripheral and central nervous systems, promoting peripheral neuropathy (PN) and cognitive impairment (CI), respectively. We posit PN and CI are connected in the metabolic syndrome framework, built on the premise that neurons, whether in the peripheral or central nervous ...
Masha G. Savelieff, David L. Bennett, Troels S. Jensen, Eva L. Feldman   +3 more
wiley   +1 more source