Doença metabólica hereditária que tem como base a interrupção do processo metabólico dos esterol.
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Doença metabólica hereditária que tem como base a interrupção do processo metabólico dos esterol.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 277 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 677 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
17 genes identificados com associação a esta condição.
Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid
Nucleus inner membraneEndoplasmic reticulum membraneCytoplasmNucleus
Pelger-Huet anomaly
An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.
A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:11013305, PubMed:12077124, PubMed:199655
Endoplasmic reticulum membraneMicrosome membrane
Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes
Cytoplasm, cytosolPeroxisome
Hypercholanemia, familial 3
An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids.
Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). Metabolizes the abundant endocannabinoid 2-arachidonoylglycerol (2-AG) to free arachidonic acid (AA) and glycerol (PubMed:24958911). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)
Microsome membraneEndoplasmic reticulum membrane
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from
Endoplasmic reticulum membrane
Lathosterolosis
An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.
Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutra
Mitochondrion inner membrane
Cerebrotendinous xanthomatosis
Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between EBP and 7-dehydrocholesterol reductase/DHCR7 (PubMed:15175332, PubMed:20615952). This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hyd
Endoplasmic reticulum membraneNucleus envelopeCytoplasmic vesicle
Chondrodysplasia punctata 2, X-linked dominant
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892)
Endoplasmic reticulum membraneGolgi apparatus membrane
Desmosterolosis
Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity)
Endoplasmic reticulum membraneLipid droplet
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070)
Golgi apparatus, Golgi stack
Chondrodysplasia punctata 1, X-linked recessive
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.
As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of dietary fat and fat-soluble vitamins (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It is strictly dependent on the extracellular presence of sodium (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It exhibits broad substrate specificity and transports variou
Cell membrane
Hypercholanemia, familial, 2
An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes.
Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid
Cytoplasmic vesicle, secretory vesicle, microneme membraneEndoplasmic reticulum membrane
Ichthyosis, X-linked
A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.
Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity)
Cell junction, adherens junctionCell membraneCell junction, tight junctionNucleus
Hypercholanemia, familial, 1
A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36958722). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs vi
Endoplasmic reticulum membrane
Microcephaly, congenital cataract, and psoriasiform dermatitis
An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.
Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By simila
Endoplasmic reticulum membrane
Smith-Lemli-Opitz syndrome
An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419)
CytoplasmPeroxisome
Mevalonic aciduria
Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Variantes genéticas (ClinVar)
169 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
53 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo dos esteroides
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo dos esteroides
Centros para Doença do metabolismo dos esteroides
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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Hepatocyte TIA1 constrains metabolic steatohepatitis by translationally suppressing Srebf1 mRNA in stress granules.
Metabolic dysfunction-associated steatotic liver disease (MASLD) and its inflammatory sequel, metabolic dysfunction-associated steatohepatitis (MASH), pose escalating global health burdens, underscoring the urgent need to elucidate their molecular mechanisms and identify novel therapeutic targets. T-cell intracellular antigen 1 (TIA1), an RNA-binding protein and core organizer of stress granules (SGs), regulates post-transcriptional gene expression during cellular stress. However, its functional role in MASLD pathogenesis remains poorly understood. Hepatocyte-specific TIA1-knockout (TIA1-HKO) and wild-type control mice were subjected to three distinct diet-induced MASLD models. Parallel gain- and loss-of-function studies were conducted in PA-treated AML12 hepatocytes. RNA immunoprecipitation sequencing (RIP-seq), RIP-qPCR, fluorescence in situ hybridization (FISH), dual-luciferase reporter assays, and mRNA stability measurements were employed to map TIA1-sterol regulatory element binding transcription factor 1 (Srebf1) mRNA interactions and quantify translational repression. Pharmacological and genetic rescue experiments confirmed mechanistic findings. Integrated transcriptomic analysis of clinical specimens and murine models revealed significant TIA1 upregulation during MASLD progression. Hepatocyte-specific TIA1 deletion exacerbated dietary-induced steatosis, inflammation, and fibrosis. In vitro, TIA1 was essential for SGs assembly and maintenance of lipid homeostasis under lipotoxic stress. Mechanistically, TIA1 directly binds the 3' UTR of Srebf1 mRNA, sequestering it within SGs and repressing the translation of sterol regulatory element binding protein 1 (SREBP1)-a master transcriptional regulator of lipogenesis. Inhibition of SREBP1 activity rescued the metabolic perturbations induced by TIA1 ablation. This study identifies TIA1 as a crucial hepatoprotective factor that attenuates MASLD progression by orchestrating SGs-dependent translational control of Srebf1 mRNA. Impairment of the TIA1-SGs-SREBP1 axis accelerates steatohepatitis, highlighting its potential as a therapeutic target for metabolic liver diseases.TIA1 Constrains MASH Progression by Assembling Stress Granules to Suppress SREBP1-Driven Lipogenesis. This study delineates a hepatoprotective pathway centered on the RNA-binding protein TIA1. In response to metabolic stress. TIA1 nucleates SGs assembly and sequesters Srebf1 mRNA, leading to translational repression of the master lipogenic transcription factor SREBP1 and its downstream lipogenic program, thereby mitigating steatosis and subsequent inflammatory and fibrotic response.
The Inherited Basis of Coronary Artery Disease.
Investigations of the genetic basis of coronary artery disease have led to advances in mechanistic insights, therapeutics, prevention, and risk prediction. Indeed, most contemporary medicines for coronary artery disease target pathways that promote atherosclerosis due to underpinning genetic mechanisms. Monogenic causes of coronary artery disease occur in approximately 1 out of 250 people and mostly result in massively elevated lipid levels. At the population level, hundreds of common variants with small effect sizes have even greater influence. They can be combined in polygenic risk scores that depict genetic risk in a person relative to the average in the general population. The risk among persons in the highest 5% is 3 to 5 times that among persons with an average score; relative risk derived from the polygenic risk score can be used to multiply the absolute risk derived from a clinical risk score. Key questions remain regarding the clinical value, cost-effectiveness, and implementation strategies required to integrate coronary artery disease polygenic risk scores into clinical practice.
Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
Adults with type 1 diabetes (T1D) are at markedly elevated risk of atherosclerotic cardiovascular disease (ASCVD). Guidelines recommend statin use for ASCVD prevention in diabetes between the ages of 40 and 75 years. This study aimed to evaluate statin prescribing rates for primary and secondary prevention of ASCVD in this age range with T1D and to identify disparities and barriers to optimal statin use. A retrospective cross-sectional study of 266 adults with T1D aged 40-75 years was conducted at an integrated health system between 2020 and 2024. Demographic features, statin prescribing patterns, low-density lipoprotein (LDL) cholesterol levels and use of additional lipid-lowering agents were extracted from medical records. Barriers to prescribing were identified via endocrine physician documentation. Among 266 adults with T1D aged 40-75 years, only 43.2% (95% CI 0.37 to 0.49) were prescribed guideline-recommended statin and 39.3% of those with a history of ASCVD received a high-intensity statin. Overall, 47.7% (95% CI 0.42 to 0.54) of patients achieved the latest LDL cholesterol targets, and 53.0% (95% CI 0.47 to 0.59) if using pre-2023 targets. Deferral to another healthcare professional (23.3%), statin intolerance (15.8%), and clinical inertia (9.0%) were the most common barriers to therapy. In multivariable analyses, female sex was independently associated with lower odds of receiving guideline-recommended statin therapy (aOR 0.45, 95% CI 0.24 to 0.85, p=0.015) and lower odds of achieving LDL targets (OR 0.43, 95% CI 0.28 to 0.64, p=0.046), while ASCVD history was associated with higher odds of statin use (aOR 2.75, 95% CI 1.34 to 5.57, p=0.005). Very few patients received adjunctive lipid-lowering agents (ezetimibe 4.1%, PCSK9 inhibitor 0.4%, none on bempedoic acid). Notable gaps exist in statin prescribing and LDL goal attainment among adults with T1D, particularly women. Efforts to enhance care coordination, promote healthcare professional education and expand the use of adjunctive lipid-lowering therapies may help improve cardiovascular prevention in this high-risk population.
Prevalence of dyslipidaemia and low-density lipoprotein cholesterol target attainment: a descriptive cross-sectional study among adults in the Western Province of Sri Lanka.
To assess the prevalence of dyslipidaemia and associated risk factors, and evaluate low-density lipoprotein cholesterol (LDL-C) target attainment among adults in the Western Province of Sri Lanka. Cross-sectional epidemiological study. Western province, Sri Lanka. Participants were recruited through a community-based survey of non-institutionalised adults aged ≥20 years residing in the Western Province for at least 1 year (n=1800), using multistage stratified random cluster sampling. Dyslipidaemia was defined according to the National Cholesterol Education Programme/Adult Treatment Panel III guidelines. Prevalence estimates are presented with 95% CIs. Multiple logistic regression results are reported as adjusted ORs with 95% CIs. Cardiovascular risk in participants aged ≥40 years was assessed using the WHO laboratory-based cardiovascular disease (CVD) risk chart for South-East Asia. Achievement of LDL-C targets was evaluated according to the Sri Lankan guidelines on management for dyslipidaemia management. Data from 1333 subjects were analysed. Mean age was 49.8 (±14.9) years. The majority were females (63.6%). The age-sex standardised prevalence of any form of dyslipidaemia was 73.3% (95% CI 70.9% to 75.7%). Age standardised prevalence in females was 77.1% (95% CI 74.3% to 79.9) and males was 69.3% (95% CI 65.3% to 73.3%). The most prevalent type of dyslipidaemia was low high-density lipoprotein cholesterol (HDL-C) (46.6%, 95% CI 43.9% to 49.3%), followed by high LDL-C (32.5%, 95% CI 30.0% to 35.0%) and high triglycerides (21.7%, 95% CI 19.5% to 23.9%). Low HDL-C was positively associated with smoking (OR: 1.89, 95% CI 1.16 to 3.18) and inversely with male sex (OR: 0.29, 95% CI 19 to 0.45) and physical activity (OR: 0.71, 95% CI 0.51 to 0.99). Elevated LDL-C was associated with male sex (OR: 1.84, 95% CI 1.2 to 2.89), diabetes (OR: 5.34, 95% CI 3.53 to 8.08), and hypertension (OR: 1.62, 95% CI 1.18 to 2.23). Male sex (OR: 1.85, 95% CI 1.08 to 3.18), diabetes (OR: 1.9, 95% CI 1.4 to 2.58) and hypertension (OR: 1.81, 95% CI 1.12 to 2.91) were positively associated with elevated triglycerides, whereas urban sector (OR: 0.54, 95% CI 0.32 to 0.91) was protective. Physical activity (OR: 0.65, 95% CI 0.44 to 0.98) and male sex (OR: 0.52, 95% CI 0.31 to 0.89) inversely associated with any form of dyslipidaemia, whereas diabetes (OR: 7.08, 95% CI 3.99 to 12.55), hypertension (OR: 1.93, 95% CI 1.36 to 2.73), and body mass index (OR: 1.06, 95% CI 1.01 to 1.2) were positively associated. The majority of participants (66.6%) had a <10% 10-year CVD risk, of whom 64.9% (95% CI 60.1 to 69.8) did not achieve the LDL-C target of <3.0 mmol/L. Three-fourths of adults in Western Province, Sri Lanka had any form of dyslipidaemia, more common in females. Low HDL-C was the most frequent abnormality. Most participants aged above 40 years were at low cardiovascular risk, yet two-thirds failed to meet LDL-C targets. Non-communicable disease prevention in Sri Lanka should expand through population-wide strategies, including awareness campaigns, promoting self-monitoring, targeted education and surveillance to evaluate interventions.
Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline and memory impairment, posing significant challenges to affected individuals, their families, and healthcare systems globally. With projections indicating that the prevalence of AD could escalate to 152 million cases by 2050, there is an urgent need to elucidate the underlying mechanisms driving this condition. Additionally, developing effective diagnostic tools to aid in its early detection and management is crucial. In this study, we utilized a combination of Mendelian randomization and advanced machine learning techniques to analyze transcriptomic data from five distinct cohorts of Alzheimer's Disease (AD) patients. After addressing batch effects, we identified differentially expressed genes (DEGs) between the AD and control groups. Mendelian randomization analysis was conducted to assess the causal relationships between DEGs and AD risk. A Venn diagram was subsequently used to identify genes associated with cholesterol metabolism from the screened gene set. The shared DEGs were subjected to functional enrichment analyses. Furthermore, immune analysis was quantified using Gene Set Enrichment Analysis (GSEA). A diagnostic model for AD was developed by evaluating 113 combinations of 12 machine learning algorithms with 10-fold cross-validation on the training datasets, followed by external validation on test datasets. Finally, immunofluorescence staining was performed on mouse brain slices to verify the expression level of KLHL21. Our analyses identified a substantial number of differentially expressed genes (DEGs) demonstrating significant differences between Alzheimer's disease (AD) patients and control groups. Among these, we identified 29 genes associated with AD, with 21 of them linked to cholesterol metabolism, highlighting its pivotal role in the disease's pathogenesis. From this set, we developed a robust 8-gene diagnostic signature (comprising CHSY1, FIBP, DHCR24, HVCN1, KIFAP3, KLHL21, LETMD1, and SLC25A29), which outperformed existing AD diagnostic models in both training and testing cohorts. Additionally, complementary animal experiments were conducted to validate the biological relevance of these genes, further elucidating their roles in AD pathology. Our research identified critical genes and proposed novel pathways for early diagnosis and potential therapeutic interventions, paving the way for enhanced clinical applications in Alzheimer's disease management.
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Journal of advanced researchAbnormal Cholesterol in Children and Adolescents: United States, August 2021-August 2023.
NCHS data briefImpact of High Doses of Vitamin D on Specific Metabolic Parameters in Type 2 Diabetes Patients: A Prospective Biomedical Study.
International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutritionDevelopment of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.
Journal of molecular histologyThe Inherited Basis of Coronary Artery Disease.
The New England journal of medicineAn oral nanocombinatorial agent exhibits pleiotropic improvement in diabetic nephropathy via modulation of the SCAP/SREBPs pathway.
Journal of nanobiotechnology[The safety and efficacy of adeno-associated virus-mediated LDLR transfection in homozygous familial hypercholesterolemia].
Zhonghua xin xue guan bing za zhi[Moderate-intensity statin plus ezetimibe: time to rethink it as an optimal initial lipid-lowering strategy].
Zhonghua xin xue guan bing za zhiRole of liver X receptors in the pathogenesis and treatment of chronic liver disease (Review).
Molecular medicine reportsIdentification of gemilukast as a bifunctional molecule with lipid-lowering and anti-inflammatory activities.
Frontiers in immunologyStatin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
BMJ openPregnancy-Specific Reference Intervals for Maternal Biochemical Parameters and Associations With Adverse Pregnancy Outcomes in a Japanese Cohort.
The journal of obstetrics and gynaecology researchPrevalence of dyslipidaemia and low-density lipoprotein cholesterol target attainment: a descriptive cross-sectional study among adults in the Western Province of Sri Lanka.
BMJ openTranscriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
CNS neuroscience & therapeuticsAssociation of Serum Lipids with 10-Year CVD and All-Cause Mortality in Iranian Adults: A Prospective Cohort Study.
Archives of Iranian medicineDexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.
Cell reportsPlasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.
Metabolic brain diseaseThe predictive value of surrogate insulin resistance indices for T2DM complicated with metabolic syndrome: a retrospective study based on hospitalized patients in China.
Frontiers in endocrinologyPlasma ceramide Cer24:0 and insulin resistance: associations with TyG and TG/HDL-C in a multicenter study of coronary artery disease cohorts.
Frontiers in endocrinologyAssociations of cumulative exposure and dynamic trajectories of cholesterol-HDL-glucose (CHG) index with cardiovascular disease in middle-aged and older Chinese adults: a longitudinal analysis.
Cardiovascular diabetologyA Significantly Higher Glucose Concentration in Plasma Collected with Glycolytic Inhibitors than in Serum: Impact of Insulin Resistance.
NutrientsRecent Applications of Hydantoins in Drug Discovery: Updates (2019~Present).
Molecules (Basel, Switzerland)Dysregulated Cholesterol Clearance via CYP46A1 Contributes to Cerebellar Sterol Imbalance in Mecp2-Null Mice.
International journal of molecular sciencesFunctional Foods as Vehicles for Bioactive Compounds: Chemical and Nutritional Perspectives on Health and Disease Prevention.
International journal of molecular sciencesNon-HDL to HDL cholesterol ratio as a potential biomarker for osteoporosis: A cross-sectional national population study.
MedicineExploring the association between 5 different alternative indicators of insulin resistance and the risk of multiple cardiovascular and metabolic diseases: A cross-sectional NHANES study from 2005 to 2018.
MedicineLDL Cholesterol Modulates Astrocyte Metabolism, Lipid Handling, and Morphology: Evidence From In Vitro and In Vivo Models.
Journal of neurochemistry[Therapeutic effects and mechanisms of Huangqi Chifeng Decoction on hyperlipidemia in rats: an integrated metabolomics approach].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Traditional Chinese medicine improves glycolipid metabolism disorders caused by high-fat diet via regulating AMPK/FXR/TLR4 signal molecules through gut-liver axis].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaEndogenous calcitriol production and ionized hypercalcemia in 7 dogs with chronic dermatopathy of infectious and noninfectious etiology (2016-2024).
Journal of veterinary internal medicineNonlinear association of residual cholesterol to high-density lipoprotein cholesterol ratio with diabetes mellitus: a retrospective cohort study.
Scientific reportsMetabolic reprogramming in cancer: dysregulation of glucose, lipid, and amino acid pathways and therapeutic opportunities.
Molecular biomedicineAssociation between the atherogenic index of plasma and acute kidney injury in sepsis patients.
PloS oneExtracellular vesicles related to familial hypercholesterolemia.
Archives of endocrinology and metabolismLipid management in individuals with type 2 diabetes mellitus: Analysis of a hospital-based series.
Endocrinologia, diabetes y nutricionSafety and Efficacy of Recaticimab in Dyslipidemia: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Pharmacotherapy[Dynamics of lipid metabolism parameters following the change of targeted therapy for hypercholesterolemia after acute coronary syndrome].
Terapevticheskii arkhivCase report: The first report of a family with sitosterolemia in the Polish population.
Journal of clinical lipidologyEmerging role of 7-Ketocholesterol and hydroxylated 7-Ketocholesterol in the pathophysiology of disease.
The Journal of steroid biochemistry and molecular biologySafety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.
Journal of inherited metabolic diseaseAmorphous calcium carbonate supplementation and bone outcomes in rheumatoid arthritis: A prospective cohort study.
Medicine[Controversies in familial dyslipidemias and cardiovascular genetics in 2026].
Revue medicale suisse[Modern treatment of type 2 diabetes: 3 medications and 3 targets].
PraxisConundrum of Cholesterol Management and Health Implications of Low Cholesterol Levels: A Narrative Review.
JNMA; journal of the Nepal Medical AssociationAmerican Heart Association's Life's Simple 7 for cardiovascular health assessment among Iranian adults: a national cross-sectional study from STEPwise approach to non-communicable diseases risk factor surveillance (STEPS) survey 2021.
BMJ openAttainment of non-high-density lipoprotein cholesterol targets in secondary and primary care: A secondary-analysis of the DA VINCI study.
AtherosclerosisIn vivo base editing gene therapy for heterozygous familial hypercholesterolemia: a phase 1 trial.
Nature medicineDaucosterol alleviates osteoarthritis by targeting chondrocyte senescence via inhibiting of the JNK pathway.
International immunopharmacologyEvaluation of Urine Exosome Lecithin Cholesterol Acyltransferase as a Biomarker for Diabetes Diagnosis and Dyslipidemia.
Diabetes/metabolism research and reviewsPreliminary Evidence for the Association of APOB rs1042034 With Short-Term Statin-Induced Lipid Lowering: An Exploratory Study in Vietnam.
Journal of cardiovascular pharmacology and therapeuticsEffects of combined phytosterols and phospholipids on blood lipids and the fluidity and lipid profiles of the erythrocyte membrane in individuals with borderline hyperlipidemia: a double-blinded randomized controlled trial.
Food & functionAnti-Inflammatory Mechanisms and Translational Relevance of Cordyceps sinensis and Its Bioactive Constituents.
Journal of inflammation research7-Ketocholesterol promotes T cell migration through Ca2+-NFATc1 pathway-mediated F-actin polymerization and proinflammatory cytokine production in oral lichen planus.
Frontiers in immunologyPhellopterin from angelica dahurica is a natural antagonist of glucocorticoid receptors regulating lipid and cholesterol metabolism.
European journal of pharmacologyFOXN3 integrates the KU70/KU80/SREBP-1 complex to regulate lipid metabolism in non-alcoholic fatty liver disease.
Nucleic acids researchObicetrapib in patients with heterozygous familial hypercholesterolemia: the BROOKLYN randomized clinical trial.
Nature medicineVariable phenotype associated with compound LDLR gene mutations in familial hypercholesterolemia patients: Case series and clinical implications.
MedicineAssociation between the remnant cholesterol inflammatory index and gallstone disease: A cross-sectional analysis based on NHANES 2017 to 2020.
MedicineSecondary prevention and management of dyslipidaemia in patients with coronary artery disease on statin therapy in a tertiary academic centre in Johannesburg.
Cardiovascular journal of AfricaAssociation Between NHHR and Future Cardiovascular Disease Among Patients With CKM Stages 0-3: A Nationwide Prospective Cohort Study.
Journal of clinical hypertension (Greenwich, Conn.)DeepDiff-SHAP: Interpretable deep learning for subgroup-specific causal hypothesis generation using conditional SHAP.
Pacific Symposium on Biocomputing. Pacific Symposium on BiocomputingAssociation between the serum uric acid to HDL cholesterol ratio and forearm bone mineral density in middle-aged and older adults.
Frontiers in endocrinologyUtility of the US Metabolic Syndrome Severity Calculator for Group-Level Comparison in Estonia.
Medicina (Kaunas, Lithuania)Restoring Lysosomes in Adipose Tissue Macrophages Mitigates Obesity-Induced Inflammation and Insulin Resistance.
International journal of molecular sciencesAn ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts.
GenesABCA1: A Therapeutic Target for Improving Cholesterol Homeostasis in Peripheral Neuropathies.
BiomoleculesAssociation Between Adherence to an Unhealthy Dietary Pattern and Biochemical Marker Values in the Urban Adult Population of Central Argentina.
Journal of human nutrition and dietetics : the official journal of the British Dietetic AssociationAssociation of remnant cholesterol with stroke risk by glycemic status: a nationwide prospective cohort study.
Diabetes research and clinical practiceMembrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.
CellsDietary patterns and metabolic syndrome in a population living at a high altitude and consuming a halal diet: A cross-sectional study combining Dietary Approaches to Stop Hypertension (DASH) principles and locally derived patterns.
Bioscience trendsRelationship Between the Ratio of Nonhigh-Density Lipoprotein Cholesterol to High-Density Lipoprotein Cholesterol and Osteoporosis: The Mediating Role of 25(OH)D and the Moderating Effect of BMI.
Diabetes/metabolism research and reviewsEarly outcomes from a new multidisciplinary cardiometabolic clinic: real-world experience in lowering low-density lipoprotein cholesterol.
Internal medicine journalPredictive value of metabolic and inflammatory indices (TGI, TG/HDL-C, and PIV) for complications in type 2 diabetes mellitus: A retrospective cohort study.
MedicineThe cholesterol, high-density lipoprotein, and glucose (CHG) index as a novel metabolic marker for predicting adverse outcomes in myocardial infarction survivors: insights from two large prospective cohorts.
Cardiovascular diabetologyInvestigating the prediction potential of cholesterol, high-density lipoprotein, and glucose index surpasses TyG, AIP, and METS-IR for type 2 diabetes: a longitudinal cohort study.
Frontiers in endocrinologyLecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.
NefrologiaMedication adherence trajectories and association with risk factors and clinical outcomes in type 2 diabetes treatment.
PloS onePrognostic value of triglyceride-derived metabolic parameters for micro- and macrovascular complications and mortality in individuals with type 2 diabetes: The Rio de Janeiro type 2 diabetes cohort study.
Diabetic medicine : a journal of the British Diabetic AssociationEvolution of triglyceride and total cholesterol levels after critical illness: Preliminary insights into post-ICU metabolic sequelae.
Journal of critical careAge-related macular degeneration and cerebral amyloid angiopathy have similar pathologies from cholesterol-APOE-amyloid-β-complement mediated inflammation.
Progress in retinal and eye researchHigh-cholesterol-load-triggered pyroptosis of gingival fibroblasts promotes periodontitis.
International immunopharmacologyCombining metabolic and checkpoint therapy: 1,25-dihydroxyvitamin D₃ enhances the antiviral efficacy of anti-PD-1 in BVDV infection.
Veterinary microbiologyThe impact of genetic testing on physician practice in specialized cardiovascular clinics.
Journal of clinical lipidologyFarrerol ameliorates hepatic insulin resistance via AMPKα1/mTOR/SREBP-1 pathway: A study in T2DM rat models and palmitic acid-induced BRL 3 A hepatocytes.
Tissue & cellMachine learning-predicted insulin resistance is a risk factor for 12 types of cancer.
Nature communicationsThe SOX10-ACAT2-Cholesterol Synthesis Axis Is Required for Melanoma Proliferation.
International journal of biological sciencesResveratrol inhibits lipid deposition via JAML/Sirt1 pathway in podocytes.
Prostaglandins & other lipid mediatorsIncreased intake of saturated fatty acids during adolescence impacts the endoplasmic reticulum to induce insulin resistance and compromised bone mineral density ameliorated by Withaferin A.
Molecular and cellular endocrinologyClinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesCorrelation of blood lipid levels with the severity of polycystic ovary syndrome and its predictive value for pregnancy outcome.
Archives of gynecology and obstetricsOptimising lipid monitoring interval for primary prevention of cardiovascular disease in patients with type-2 diabetes: A target trial emulation study.
Diabetes research and clinical practiceA nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Journal of clinical lipidologyExclusive association of non-HDL/HDL ratio with albuminuria in diabetes and its nonlinear pattern in advanced CKD: Findings from NHANES 2015-2020.
Diabetes research and clinical practiceESTIMATING THE PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN STROKE AND TRANSITORY ISCHEMIC ATTACK POPULATION: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Georgian medical newsLDL-CHOLESTEROL LOWERING WITH ATORVASTATIN, ROSUVASTATIN AND SIMVASTATIN: RESULTS OF A RETROSPECTIVE OBSERVATIONAL STUDY.
Georgian medical newsThe evolving therapeutic landscape of PCSK9 inhibition.
AtherosclerosisExploring Uric Acid to HDL Ratio as a Long-Term Biomarker for Diabetes Mellitus.
Journal of clinical laboratory analysisA dose-response relationship between low-density lipoprotein cholesterol levels within the normal range and the incidence of diabetes mellitus: a retrospective cohort study.
Frontiers in endocrinologyHepatic UGT2B-Mediated Testosterone Clearance Promotes Lipid Accumulation in High-Fat-Diet-Induced MASLD.
NutrientsImpact of Monacolin K-Containing Supplements on Lipid Profile: A Meta-Analysis of Randomised Controlled Trials.
Endocrinology, diabetes & metabolismMyopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.
Orphanet journal of rare diseasesAdvanced therapy in familial hypercholesterolemia.
Canadian family physician Medecin de famille canadienThe predictive potential of surrogate indicators of insulin resistance for type 2 diabetic kidney disease.
Frontiers in endocrinologyThe role of early ezetimibe combination with atorvastatin in patients with atherosclerotic cardiovascular disease.
BMC cardiovascular disordersRelationship between lipid profiles and glycemic control in gestational diabetes mellitus women.
BMC pregnancy and childbirthUsefulness of uric acid-to-high-density lipoprotein cholesterol ratio for the evaluation of insulin resistance in healthy normoglycaemic and normoinsulinaemic men.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationTaraxasterol ameliorates bone loss of ovariectomized mice via suppressing the NLRP3 inflammasome and modulating the gut microbiota.
Biochemical and biophysical research communicationsEfficacy of evinacumab by genotype and low-density lipoprotein receptor function in patients with homozygous familial hypercholesterolaemia: A subanalysis from the ELIPSE open-label extension study.
AtherosclerosisInclisiran Therapy and Lipid Profile Dynamics in Real-World Clinical Practice in Russia: Interim Results of an Observational Study.
KardiologiiaAssociation of C-reactive protein/high-density lipoprotein cholesterol ratio with stroke in Chinese adults across different glycemic status.
Lipids in health and diseaseThe influence of ethnicity and sex on lipid profile and cardiovascular risk factors: a population-based study.
Lipids in health and diseaseEfficacy and safety of ongericimab in patients with dyslipidemia: A GRADE-assessed systematic review and meta-analysis of randomized controlled trials.
Journal of clinical lipidologyHypercalcaemia as an immune-related adverse event secondary to ipilimumab and nivolumab therapy in a patient with metastatic renal cell carcinoma.
BMJ case reportsHypolipidemic activity of Limosilactobacillus fermentum SHY0004 from Miao sour soup.
BMC microbiologyRetinal phenotype of APOB100 transgenic mice on a Western diet with human-like hyperlipidemia and cholesterol crystals in the retina and choroid.
Lab animalAssociation of remnant cholesterol inflammation index with future cardiovascular disease risk in patients with cardiovascular-kidney-metabolic syndrome stages 0-3.
Diabetes research and clinical practiceHepatoprotective Ergostane and Lanostane Derivatives from Mushrooms for the Management of Metabolic Dysfunction-Associated Fatty Liver Disease: A Review.
International journal of medicinal mushroomsMetabolic syndrome and diabetic kidney disease: a consistent dose-response association validated in an independent clinical cohort.
Frontiers in endocrinologyTotal cholesterol, high-density lipoprotein, and glucose (CHG) index and diabetic retinopathy in middle-aged and elderly Chinese adults with diabetes: a cross-sectional study.
Frontiers in endocrinologyLow HDL cholesterol is associated with elevated TNFR1 and TNFR2 levels in early diabetic kidney disease.
Frontiers in endocrinologyCholesterol Lowering Alone Fails to Reverse Atherosclerotic Plaque Necrosis, Granulopoiesis, and Neurovascular Neutrophils in Middle-Aged Mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyRevisiting elevated HDL cholesterol, cerebral hemodynamic improvement in asymptomatic carotid artery disease: A longitudinal 15O-Gas PET study.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsLipidic contents within calcified plaques: Characteristics and response to LDL-C<55 mg/dL on multi-modality imaging.
AtherosclerosisLipid Keratopathy in Sitosterolemia: A Case Report and Review of The Ophthalmic Manifestations.
CorneaPathophysiological Risk Factors Preceding Incidence of Type 2 Diabetes Subtypes: A Pooled Cohort Study in the United States.
Diabetes careExploring the nonlinear association between serum uric acid and the TG/HDL-C Ratio: insights from school-aged children with adenoid or tonsillar hypertrophy.
Frontiers in public healthSilicon-Enriched Restructured Meat Mitigates Metabolic Dysfunction-Associated Steatohepatitis in a Late-Stage Type 2 Diabetes Mellitus Rat Model.
Molecular nutrition & food researchStudy on biomarkers of homocysteine-induced transformation of vascular smooth muscle cells into foam cells.
Scientific reportsAssessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype.
AtherosclerosisMetabolomic Analysis of Phytophthora parasitica Growth in the Presence of β-sitosterol Indicates Adaptive Mechanisms Modulated by Sterols.
Journal of basic microbiologyPredictive value of an integrated insulin resistance and lipometabolic score for cardiometabolic multimorbidity in older adults: a UK cohort study.
Cardiovascular diabetologyAnalysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.
BMC pediatricsInclisiran in Chronic Kidney Disease Patients: A Real-World Experience.
Cardiorenal medicineThe Role of Testosterone in Atherosclerosis: View From Cell Cultures and Animal Models.
Journal of cardiovascular translational researchPaeoniflorin Ameliorates Metabolic Dysfunction-Associated Steatotic Liver Disease by SYK/SH3BP2 Signaling Pathway.
Research (Washington, D.C.)Therapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.
Scientific reportsMaternal supraphysiological hypercholesterolemia and its adverse impact on transgenerational cardiometabolic health: a literature review.
Nutrition, metabolism, and cardiovascular diseases : NMCDAssociation Between High Serum Alanine Aminotransferase to High Density Lipoprotein Cholesterol Ratio and Metabolic Syndrome among People Living with HIV on Dolutegravir-Based ART in South-Western Uganda.
Journal of the International Association of Providers of AIDS Care[Clear Pathway: the role of bempedoic acid in lipid-lowering strategies. The opinion of cardiologists from Piedmont and Aosta Valley, Italy].
Giornale italiano di cardiologia (2006)[Modulation of the cholesteryl ester transfer protein: new perspectives for the management of cardiovascular risk].
Giornale italiano di cardiologia (2006)Blumea balsamifera (L.) DC. and Sargassum aquifolium J. Agardh extracts as anti-atherosclerotic, anti-inflammatory, and hepatoprotective agents in Wistar rats induced by a high-cholesterol diet.
Open veterinary journalAssociation between the uric acid to high-density cholesterol ratio and abdominal aortic calcification: Evidence from NHANES 2013 to 2014.
MedicineMalassezia globosa lipidome: The dynamics of uptake and secreted lipids.
VirulenceA novel exopolysaccharide from Lactiplantibacillus plantarum H6 improves cholesterol metabolism via Muribaculum-mediated activation of the enterohepatic FXR-FGF15 axis.
Gut microbesGanoderic Acid A alleviates ulcerative colitis by inhibiting the interleukin17 signaling pathway via targeting retinoic acid-related orphan receptor alpha.
Journal of ethnopharmacologySex-specific associations of lipid profiles with type 2 diabetes: Insights from the Shiraz University employees cohort.
Primary care diabetesLow density lipoprotein target achivement in very high and extreme cardiovascular risk patients during a cardiac rehabilitation program.
Nutrition, metabolism, and cardiovascular diseases : NMCDBeyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.
Orphanet journal of rare diseasesApoB/LDL-C discordance as a predictor of atherosclerotic cardiovascular disease in genetically confirmed heterozygous familial hypercholesterolemia: A hypothesis-generating cohort study.
Journal of clinical lipidologyEfficacy and safety of inclisiran in adolescents with heterozygous familial hypercholesterolaemia (ORION-16): a two-part, randomised, multicentre clinical trial.
The lancet. Diabetes & endocrinologyCenobamate beyond Epilepsy: exploring associations with vascular risk factors through serological markers.
Epilepsy & behavior : E&BMultiphasic Venture of Cholesterol Homeostasis: A Perspective on Statin Therapy.
Journal of biochemical and molecular toxicologyHypocholesterolaemia in a child with familial hypercholesterolaemia.
BMJ case reportsLncRNA TUG1 promotes hepatic lipid accumulation by targeting the miR-29a-3p/SREBP-2/HMGCR axis in MAFLD.
Functional & integrative genomicsSitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Journal of medical case reportsGanoderic Acid A Modulates Enteric Neurons and Intestinal Homeostasis in Irritable Bowel Syndrome by Microbiota Sensing.
Journal of agricultural and food chemistryLoss of hepaCAM inhibits cholesterol biosynthesis and impairs learning and memory in mice.
Brain researchThe association between high-density lipoprotein cholesterol and depressive symptoms: The moderating role of inflammation.
Journal of affective disordersCalcium and vitamin D reduce hypoparathyroidism and hospital stay after thyroidectomy: A randomized controlled trial.
SurgeryEffect of Vitamin D Supplementation on Cardiometabolic Outcomes in Older Australian Adults-Results from the Randomized Controlled D-Health Trial.
NutrientsBest Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.
NutrientsAssociation of Remnant Cholesterol Inflammatory Index with Stroke, Heart Disease and All-Cause Mortality Across Cardiovascular-Kidney-Metabolic Syndrome Stages 0-3: A National Cohort Study.
NutrientsSerum Lipidomic Profile Signature of Active Acromegaly and Relationships to Cardiovascular Disease.
International journal of molecular sciencesVery-Low-Density Lipoproteins Quantity but Not Composition Is Altered in Normotriglyceridemic Subjects with Elevated Lipoprotein (a) Level.
International journal of molecular sciencesComplex I Modulator BI4500 Reduces MASH by Limiting Oxidative Stress and Reprogramming Lipid Metabolism via AMPK in MCD Rats.
Antioxidants (Basel, Switzerland)Ergosterol and β-sitosterol exert cholesterol-lowering effects by enhancing gut microbiota-mediated cholesterol sulfonation and total bile acid excretion in mice.
Food & functionThe Efficacy and Safety of Four Novel PCSK9 Monoclonal Antibodies in Patients With Hypercholesterolemia: A Systematic Review With Network Meta-Analysis and Trial Sequential Analysis.
Cardiovascular therapeuticsImpacts of Herbal Medicine Use on Lipid Profiles in Type 2 Diabetic Patients in Northwest Ethiopia: A Comparative Cross-Sectional Study.
BioMed research internationalRole of Mitochondrial Protein, mitoNEET, in Impaired Intracellular Cholesterol Metabolism-Induced Neuronal Cell Death.
Biological & pharmaceutical bulletinReprogramming lysosomal-purinergic crosstalk governs the synergistic attenuation of NLRP3 inflammasome activation by cyclodextrin-P2X7 blockade in diabetic rats.
European journal of pharmacologyImmune-metabolic dysregulation and suicide risk in adolescents with major depressive disorder: a cross-sectional study.
BMC psychiatryTREM2 expression level is critical for microglial state, metabolic capacity and efficacy of TREM2 agonism.
Nature communicationsRemnant cholesterol/high-density lipoprotein cholesterol ratio is a new powerful tool for identifying diabetic kidney disease.
Journal of diabetes investigationDevelopment and validation of a logistic regression model for predicting menstrual irregularity using LDL-C and age in reproductive-aged women: An analysis of NHANES Data.
MedicineMendelian randomization analysis of the causal relationship between low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and androgenic alopecia.
MedicineComparison of novel nutritional index (TCBI) and insulin resistance index (TyG-BMI) for assessing cardiovascular disease risk: a cohort study.
Journal of health, population, and nutritionLipoprotein(a) and Cumulative Low-Density Lipoprotein Cholesterol as Predictors of Coronary Artery Disease in Statin-Naïve Elderly Individuals with Hyperlipidemia.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirUtility of the MetS-IR and SPISE indices for identifying insulin resistance in Mexican children.
Obesity research & clinical practiceAutophagy in lipid metabolism.
Advances in clinical chemistryAssociation of the uric acid-to-HDL cholesterol ratio with incident type 2 diabetes in community-dwelling older adults in China: a retrospective cohort study.
Frontiers in endocrinologyDifferent response of plaque regression following achievement of LDL-C <1.8 mmol/L in obese and nonobese patients with diabetes and coronary artery disease: OPTIMAL sub-analysis.
Journal of clinical lipidologyFacile Formulation of an Oral Nanovesicular Carrier Co-Encapsulating Simvastatin and Ezetimibe for Enhanced Lipid-Lowering Effect.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.VCholesterol-dependent control of endosomal escape regulates intracellular trafficking of small interfering RNA therapeutics and interactions with small molecule drugs.
The Journal of pharmacology and experimental therapeuticsSREBP1-mediated lipid metabolism reprogramming drives malignant progression and therapeutic resistance in HPSCC organoids and animal models.
Biomaterials scienceLongitudinal exposure to non-HDL-C and cardiovascular events, all-cause mortality in type 2 diabetes: A post hoc analysis of the ACCORD trial.
Diabetes, obesity & metabolismGut microbiota, lipid metabolism, and PCOS: A Mendelian randomization and mediation analysis.
MedicineSevere hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Journal of clinical lipidologyLDL-C Goal Attainment with Fixed-Dose Ezetimibe and Atorvastatin Versus High-Dose Atorvastatin in Chinese Patients: Subgroup Analysis of a Randomized Trial.
Advances in therapyCausal relationships of lipid metabolism in diabetic nephropathy risk: A two-sample Mendelian randomization study.
Nutrition, metabolism, and cardiovascular diseases : NMCDNeuroprotective effects of calcitriol in a rat model of type 2 diabetes: Targeting neuroinflammation, glycation, oxidative stress and metabolic dysfunction.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieDeterminants of circulating PCSK9 levels and the efficacy of PCSK9 inhibitor therapies in chronic kidney disease: a systematic review.
European journal of clinical pharmacologyGlycaemic Status Modifies the Association Between Cardiometabolic Index and Cardio-Kidney Outcomes: A Multi-Cohort Analysis.
Diabetes/metabolism research and reviewsAn oral, liver-restricted LXR inverse agonist for dyslipidemia: preclinical development and phase 1 trial.
Nature medicineGut microbiome-metabolomics integration explores the adjunctive effect of Naoxintong capsule on atorvastatin in ameliorating hyperlipidemia: A randomized controlled pilot study.
Phytomedicine : international journal of phytotherapy and phytopharmacology[Protein-energy deficiency in children of the first year of life as a risk factor for dislipoproteinemia].
Voprosy pitaniiaComparison of the Friedewald, Sampson, and Martin Formulas with Direct Homogeneous Assay of Low-Density Lipoprotein Cholesterol in South American Patients.
The journal of applied laboratory medicineFueling Disease: ACSS2 in Obesity-Associated Metabolic Disorders and Cancer Progression.
Obesity reviews : an official journal of the International Association for the Study of ObesityThe complex relationship between cardiologists and lipid-lowering dietary supplements: Hate or love?
Nutrition, metabolism, and cardiovascular diseases : NMCDAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Hepatocyte TIA1 constrains metabolic steatohepatitis by translationally suppressing Srebf1 mRNA in stress granules.
- The Inherited Basis of Coronary Artery Disease.
- Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
- Prevalence of dyslipidaemia and low-density lipoprotein cholesterol target attainment: a descriptive cross-sectional study among adults in the Western Province of Sri Lanka.
- Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
- Genome-wide investigation of synthetic rescue interactions in Alzheimer's disease implicates glial lipid and sterol metabolism.
- Characterization of gut lipases in Helicoverpa armigera: New insights into the role of intracellular lipases in cholesterol homeostasis.
- A Cluster of Three snoRNAs Including Jouvence Required in the Gut Determines Lifespan and Confers Neuroprotection Through Metabolic Parameters.
- Functional Characterization of a Signal Peptide Peptidase in Phaffia rhodozyma Reveals a Potential Role in Protein Stress Response but Not in Activation of the SREBP Ortholog Sre1.
- Metabolic Disruption and Steatosis Induced by Drinking Water Disinfection Byproducts in HepG2 and HUH7 Cells.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79226(Orphanet)
- MONDO:0019256(MONDO)
- GARD:18981(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788571(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
