Introdução
O que você precisa saber de cara
Muitas condições de pele afetam o sistema tegumentar humano—o sistema de órgãos que cobre toda a superfície do corpo e é composto por pele, pelos, unhas e músculos e glândulas relacionados. A principal função desse sistema é atuar como uma barreira contra o ambiente externo. A pele pesa em média quatro quilos, cobre uma área de dois metros quadrados e é composta por três camadas distintas: a epiderme, a derme e o tecido subcutâneo. Os dois principais tipos de pele humana são: a pele glabra, a pele sem pelos nas palmas das mãos e nas solas dos pés, e a pele com pelos. Neste último tipo, os pelos ocorrem em estruturas chamadas unidades pilossebáceas, cada uma com folículo piloso, glândula sebácea e músculo eretor do pelo associado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth
Cell membraneCytoplasmic vesicleLysosome lumen
Variantes genéticas (ClinVar)
148 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 465 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 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 — Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
Individuals with Down syndrome (DS) have a very high risk for developing Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein gene on chromosome 21. We describe a unique set of female monozygotic twins with Trisomy 21 and mild intellectual disability with significantly discordant rates of cognitive decline. The twins were followed longitudinally, starting at age 42, using cognitive assessments (Down Syndrome Mental Status Examination and Modified Cued Recall). Caregiver assessments included the Dementia Questionnaire for People with Learning Disabilities, National Task Group - Early Detection Screen for Dementia and the Neuropsychiatric Inventory. Blood was collected for AD biomarkers. Performance on baseline cognitive assessments was similar; however, by Timepoint 1, Twin 2 met criteria for mild cognitive impairment (MCI) and by Timepoint 2 met criteria for dementia due to AD. In contrast, Twin 1 remained cognitively stable. Caregiver assessment at baseline showed concerns about Twin 2's social skills, which remained stable across timepoints. AD protein biomarker levels were similar. Discordant cognitive decline could not be explained by clinical co-morbidities, medications, or environment, suggesting that other factors, such as epigenetics, could underlie phenotypic variability and variable risk for AD in DS and deserves further study.
Neuropsychological aspects of impulse control disorders in Parkinson's disease.
Impulse control disorders (ICDs), such as excessive gambling, compulsive sexual behavior, binge eating, compulsive shopping as well as punding, and the dopamine dysregulation syndrome, may arise as a debilitating neuropsychiatric complication in Parkinson's disease (PD). Although the pathophysiology is not fully understood, it likely involves mesolimbic dopaminergic overstimulation combined with disease-related vulnerabilities in reward, motivation, and inhibitory control networks. This narrative review summarizes evidence on the neuropsychological, affective, and behavioral traits associated with ICDs in PD, with a particular focus on epidemiology/clinical manifestations, neurobiological and pharmacological mechanisms, as well as prevention and management strategies. ICDs can affect up to 40% of PD patients and are strongly associated with dopamine agonist exposure, younger age of onset, premorbid personality traits, and neuropsychiatric comorbidities. Neuropsychological findings reveal abnormalities in several domains, including reflection impulsivity, temporal discounting, novelty seeking, risk processing, and inhibitory control, while mood disorders, sleep dysfunction, apathy, and anxiety further influence vulnerability and worsen behavioral dysregulation. Although general awareness for development of ICDs has been raised, they still represent a significant burden for patients and their family members and are a predictor of functional decline and lower quality of life. Management includes dopamine agonist withdrawal whenever possible, the cessation of fast acting dopaminergic agents and treatment of neuropsychiatric comorbidities. In selected cases, deep brain stimulation or continuous dopaminergic delivery should be considered, particularly in those experiencing persistent worsening of motor symptoms despite appropriate adjustment of dopaminergic medication.
Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.
Parkinsonian syndromes are a heterogeneous group of neurodegenerative diseases that pose challenges in early diagnosis, differentiation, and pathophysiological understanding. The objective of this review is to summarize recent contributions of computational models combined with neuroimaging data to the differential diagnosis of Parkinsonian syndromes, disease subtyping, and understanding of disease processes. Using machine learning algorithms trained with MRI features, diagnostic accuracies above 90% have been achieved for distinguishing patients with Parkinson's disease from healthy controls and for the differential diagnosis of Parkinsonian syndromes. Computational models, such as hierarchical cluster analysis and Subtype and Stage Inference (SuStaIn), have enabled the identification of distinct disease subtypes within Parkinson's disease based on imaging-derived brain features. Network models based on structural and functional connectomes have revealed that disease spread in Parkinson's disease is primarily driven by global connectivity. Additionally, local brain characteristics such as gene expression, cellular composition, and neuroreceptor profiles may contribute to selective vulnerabilities. Computational approaches enhance the diagnosis of Parkinsonian syndromes, particularly in the early stages, and refine the characterization of disease subtypes, benefiting clinicians, especially in non-expert centers. Such applications hold significant potential for enabling more personalized management and selecting appropriate candidates for clinical trials. Furthermore, a deeper understanding of pathophysiology supports the development of disease-specific therapies.
[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.
To evaluate [18F]fluorodeprenyl-D2 ([18F]F-DED) positron-emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. [18F]F-DED PET was performed in 25 GAD65-AIE patients and 8 controls using dynamic (0-60 min) and static (30-60 min) acquisitions. Global astrogliosis was assessed by volumes of distribution (VT; 1-tissue-compartment model with carotid input) and standardized uptake values (SUV). Regional cerebellar and mesiotemporal (MT) uptake was normalized to global uptake (SUVr). PET measures were correlated with clinical phenotypes, MRI findings, and serum biomarkers (neurofilament light chain [sNfL], GAD65-Ab titers, and glial fibrillary acidic protein [sGFAP]). Clinical phenotypes included limbic encephalitis/temporal lobe epilepsy (LE/TLE; n = 17), stiff-person syndrome (n = 4), and cerebellar ataxia (CA; n = 4), with overlap in nine patients. Global [18F]F-DED uptake was higher in patients than controls. VT analysis showed increased cortical and MT uptake, while SUVr analysis demonstrated elevated MT uptake across the cohort. LE/TLE patients exhibited increased MT uptake, and CA patients showed higher cerebellar uptake. [18F]F-DED uptake did not correlate with sNfL or GAD65-Ab titers, but sGFAP showed associations with cerebellar and white-matter uptake. Regional uptake correlated with clinical severity in LE/TLE (MT lobe) and CA (cerebellar white matter). [18F]F-DED PET reveals region-specific astrogliosis corresponding to clinical manifestations and disease severity in GAD65-AIE, supporting its potential as a monitoring tool for disease activity.
Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
The onset of epilepsy in adulthood occurs most commonly after 55 years of age. Given the ageing global population, this disorder represents an increasing burden on healthcare and society. The bidirectional link between epilepsy and dementia is a focus of intense research with underlying tau pathology highlighted as a potential mechanistic link. In this review, we examine the evidence for tau-related neurodegenerative processes in epilepsy beginning with how changes in biochemical and structural properties of the tau protein can lead to abnormal phosphorylation and pathological aggregation. We consider the role of tau in seizure occurrence and cognitive difficulties in experimental animal epilepsy models to human epileptic syndromes. Seizure prevalence is evaluated across established primary and secondary tauopathies to understand the associated hyperexcitability phenotype. We discuss the use of neurophysiology, metabolic imaging and novel fluid biomarkers as non-invasive measures of potential underlying neurodegeneration in epilepsy. It may, for example, be that these can be combined with remote measures of cognition and other physiological parameters to provide accurate longitudinal monitoring of cognition and underlying pathology. We also explore clinical trials that have targeted pathological tau accumulation in neurodegenerative conditions and consider an ongoing clinical study with sodium selenate, an enhancer of protein phosphatase enzyme PP2A, in people with epilepsy. These efforts signify a novel disease-modifying era with treatments that reduce seizures and modify cognitive outcomes in people with epilepsy. Our analysis of the literature underscores the need for more in-depth characterization of tau pathology, at biochemical and structural levels, in brain tissue and peripheral samples from people with epilepsy as an important step to deciphering the role of tau in the pathogenesis of epilepsy and related disorders. Examining the relationships between tau pathology and cognitive impairment in those with epilepsy provides critical perspectives on a potential causal tau pathomechanism that may have important roles in epileptogenesis and dementia.
Publicações recentes
Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.
Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
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Frailty trajectories and risk of incident advanced CKM syndrome: A national cohort analysis.
Age-related vs. disease-related: how perceptions of geriatric syndromes shape health-seeking behavior in older adults.
📚 EuropePMCmostrando 197
[Preventing dementia in an ageing society].
Therapeutische Umschau. Revue therapeutiqueA Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
Neurology open accessNeuropsychological aspects of impulse control disorders in Parkinson's disease.
Frontiers in aging neuroscienceNovel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.
Frontiers in aging neuroscienceIntegrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.
ERJ open researchUnfolded proteins and aggregates: The role of proteostasis in pseudoexfoliation pathology.
Molecular vision[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.
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Prostate cancer and prostatic diseasesExome sequencing identifies known and candidate genes in hearing impairment in Cameroon.
Communications medicineMetabolic syndrome in Korean older adults: Prevalence, determinants, and nursing implications.
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Journal of immunology researchEffect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.
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Brain : a journal of neurologyImpact of Prematurity on Metabolic Maturation.
Journal of proteome researchEvaluation of nutritional interventions and their impact on metabolic syndrome risk markers in older adults.
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Journal of dental researchCorrelation of Thyroid Hormone Levels and Sensitivity With Metabolic Syndrome in Older Adults.
Journal of diabetesThe roles of salivary secretory IgA on the development of oral candidiasis.
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EClinicalMedicinePublisher Correction: Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Nature communicationsCOPD-sleep-disordered breathing overlap and vascular risk markers in non-obese adults: The Nagahama study.
Respiratory medicine'Just a delirium': a qualitative study of care home managers' perspectives on barriers to delirium recognition and management in UK care homes.
Age and ageingTwelve-week combined arginine and fish oil supplementation is associated with reduced sarcopenia severity: a randomized, double-blind, placebo-controlled study.
Frontiers in nutritionPsychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsPrecision cardiovascular medicine with big data and AI.
NPJ digital medicineThe Impact of Multidimensional Frailty on Adverse Outcomes in Older Adults: A Systematic Review and Meta-Analysis.
Geriatrics & gerontology international[Frailty in intensive care medicine].
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The American journal of gastroenterologyAn Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.
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F&S scienceThe effect of end-tidal carbon dioxide levels on dynamic cerebral autoregulation and clinical outcome in acute ischemic stroke: An INFOMATAS study.
Journal of the neurological sciencesPathogenic mechanisms of action of autoantibody-mediated central nervous system disorders targeting neuroglial surface antigens.
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Archives of gynecology and obstetricsHIV Infection, Neurotoxicity, Inflammation, Premature Aging, and Therapeutic Challenges to PLWH: An Overview.
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The American journal of clinical nutritionLocomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
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Clinical oral investigationsBiologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.
Aging cellCase Report: Native aortic valve Listeria monocytogenes endocarditis in an adult with Evans syndrome.
Frontiers in immunologyBurden and projections of polycystic ovarian syndrome in the belt and road countries from 1990 to 2021 in the framework of predictive, preventive, and personalised medicine: Analysis based on the global burden of disease.
The EPMA journalDevelopment and validation of a cardiometabolic multimorbidity prediction model in middle-aged and older adults.
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BMJ (Clinical research ed.)Randomized Mediterranean Diet Intervention to Reverse Metabolic Syndrome: Preliminary Findings at 6-Month Follow-Up.
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The Journal of clinical endocrinology and metabolismIGFBP5 Restores Endometrial Receptivity and Rescues Implantation Failure in Polycystic Ovary Syndrome.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Cerebral collateral arteriogenesis and cerebrovascular reserve in aged and diet-induced obese mice after unilateral common carotid occlusion.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismValidity of the Turkish version of the Oral Frailty Index-8 and its relationship with frailty, malnutrition, and sarcopenia in older adults.
Turkish journal of medical sciencesAgeing with Haemophilia: Comorbidities in Focus.
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und ImmunhamatologiePreventing ovarian aging: from redox-targeted strategies to extracellular vesicle-based therapies.
Frontiers in agingThe tight bond between Fanconi anemia and aging.
Frontiers in agingTyG and RC combined with CVD risk in CKM syndrome: A national cohort study.
iScienceHutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress.
Frontiers in physiology[Effects and mechanisms of Renshen Guben Oral Liquid combined with Jingfang Granules on ovarian aging in perimenopausal mice].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Traditional Chinese medicine understanding and treatment strategies for diuretic resistance].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaUnusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.
CNS neuroscience & therapeuticsAssociation between Cardiovascular-Kidney-Metabolic (CKM) syndrome staging and falls among community-dwelling older adults: a cross-sectional study.
BMC geriatricsMetabotropic glutamate receptor 5 expression associates with pain and inflammatory pathways in interstitial cystitis.
Scientific reportsHealthy Lifestyle Behaviors of Adults Aged 95 Years and Above and Their Relationship with Geriatric Syndromes.
Risk management and healthcare policyThrombaxane-B2 as a predictor marker of atrial fibrillation.
International journal of cardiology. Cardiovascular risk and preventionChronic inflammation as a driving factor for sarcopenia: an update on pathophysiology and future therapeutic targets.
Frontiers in pharmacologyGenome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
Movement disorders : official journal of the Movement Disorder SocietyMetabolic syndrome among patients with severe mental illness attending a tertiary hospital in northwestern, Tanzania: A cross sectional study.
PLOS mental healthDays Alive and at Home After Critical Illness Hospitalization Among Older Adults and Its Association With Delivery of In-Hospital Rehabilitation.
Critical care medicineMitotic BLM functions are required to maintain genomic stability.
Nucleic acids researchBaseline Dementia Prevalence and Subtypes in Older Adults Hospitalized With Acute Coronary Syndrome: A Multicenter Study From a Large Integrated Health Care Delivery System.
The Permanente journalRethinking Thiamine in the Emergency Department: Why a Hi-Phy-Vi-Based "Suspect and Treat" Approach Matters in an Aging Society.
CureusCalcific Aortopathy in Response to Aging and Injury.
CirculationMapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.
PLOS global public healthModulation of tocotrienol's bone effects by osteocytes: a perspective.
Frontiers in pharmacologyInfluence of SARS-CoV-2 reinfection on bone health in the population over 55 years old in Beijing, China: a cross-sectional study.
Frontiers in public healthPolyamines as a Universal Language of Host-Microbiota Symbiosis.
Research (Washington, D.C.)Central amygdala HDAC6 contributes to visceral hypersensitivity and affective comorbidities in IBS-like rats.
International immunopharmacology[Potential complications and management of hyaluronic acid fillers in facial aesthetics].
Orvosi hetilapNeuropsychiatric symptoms in preclinical and clinically manifest dementia: clusters and their health determinants.
Alzheimer's & dementia : the journal of the Alzheimer's Association[Multicomponent nurse-led intervention for the prevention of delirium in hospitalized frail older patients: PREDELENF study protocol].
Revista espanola de geriatria y gerontologiaPersistent Gut-Immune Axis dysregulation in long-term Post-COVID Syndrome: Insights from a prospective, observational, cross-sectional case-control study.
Mucosal immunologyLymphocyte-To-Monocyte Ratio is Partially Mediated in Age-Related Cardiovascular Mortality in HFpEF: Immunosenescence, Inflamm-Aging, and Longevity.
Reviews in cardiovascular medicineOne-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.
Frontiers in agingEmerging roles of spexin in cardiovascular homeostasis.
Frontiers in cardiovascular medicineKaryotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.
Journal of ovarian researchIn Search of Geriatrician Identity.
Journal of the American Geriatrics SocietyNeuropsychiatric Symptoms in Patients With Pathologically Confirmed Comorbid Alzheimer Disease and Frontotemporal Lobar Degeneration.
NeurologyExaggerated Startle - A Diagnostic Clue for PURA Syndrome.
Indian journal of pediatricsREALiTEC: a multi-country observational retrospective study of teclistamab in patients with relapsed/refractory multiple myeloma outside of clinical trials.
HaematologicaAssociations of Skeletal Muscle Mass and Percent Body Fat with Balance, Gait, and Locomotive Syndrome Risk in Community-dwelling Older Women.
Progress in rehabilitation medicineVentricular assist device unloading reverses microvascular senescence in single ventricle disease.
Nature cardiovascular researchEXPRESS: miRNA-let7b5p Alleviates Visceral Hypersensitivity by Inhibiting the Activation of Spinal Microglial in Male IBS-like Rats.
Molecular painProgerin expression in humans: Implications for natural ageing.
Mechanisms of ageing and developmentOxytocin relieves visceral hypersensitivity through GABAB1-TRPV1 in rats with irritable bowel syndrome.
Sheng li xue bao : [Acta physiologica Sinica]The relationship between depression, frailty, and successful aging in older adults: a cross-sectional study.
Contemporary nurseAssessing the ability of SARC-F to reflect elastography-based muscle quality in older adults.
Acta clinica BelgicaIncreased incidence of mild cognitive impairment in long COVID patients.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationPolydatin in respiratory diseases: multi-target mechanisms and therapeutic potential.
Frontiers in pharmacologyAge-dependent changes in the transverse carpal ligament and median nerve: a cadaveric histological and biomechanical study.
PeerJImpact of comorbidities in patients with erosive hand osteoarthritis (EHOA), a monocentric study.
Frontiers in agingDelineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.
Frontiers in geneticsPlaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.
PrionA Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.
Biology of the cellAccelerated biological aging and the dynamic transitions of stroke and dementia: A multi-state trajectory analysis.
Neurobiology of diseaseImmune Preconditioning with Oral Quercetin Supplement and COVID-19 mRNA Vaccine Responses: A Randomized, Double-Blind, Placebo-Controlled Trial.
The Journal of nutritionMetabolic age as a marker of cardiometabolic risk: Relationships with metabolic syndrome, hypertriglyceridemic waist, and hypertensive waist phenotypes in a large occupational cohort.
SemergenInsulin resistance and SIRT1 dysregulation in neurodegenerative diseases.
Ageing research reviewsTrends, burden, and outcomes of hypoglycemia hospitalizations in older adults: a territory-wide study in Hong Kong, 2012-2021.
Archives of gerontology and geriatricsTreating Genitourinary Syndrome of Menopause in Postmenopausal Women with a History of Breast Cancer.
Drugs & agingFacilitating Macrophage Uptake of DNA Nanostructures for Integrated Imaging and Therapy of Acute Respiratory Distress Syndrome.
ACS applied materials & interfacesLow-cost bodyweight callisthenic-based HIIT improves blood pressure, glucose control, and TyG in older adults with metabolic syndrome.
Frontiers in sports and active livingExtracellular-to-total body water ratio is associated with comorbidity and cardiorespiratory fitness in older adults with post-COVID-19 syndrome.
Frontiers in nutritionGeriatric syndromes in elderly hospitalized patients in China: a cross-sectional study.
Frontiers in medicineIncreased cerebrospinal fluid YKL-40 concentration in hip fracture patients with delirium.
Brain communicationsThe Not-So-Empty Nest: Exploring the Lived Experience of Iranian Parents with Adult Children Migrating from Tehran.
International journal of aging & human developmentAster koraiensis Nakai: Insights into Its Phytoconstituents and Pharmacological Properties.
PharmaceuticsUnderstanding Frailty in IBD: Implications for Clinical Outcomes and Multidisciplinary Care.
Journal of clinical medicineFats and Facts: A Meta-Analysis of Lipid Biomarkers in Endometrial Cancer.
Life (Basel, Switzerland)Extracellular Superoxide Dismutase in Acute Respiratory Distress Syndrome: Pathogenic Mechanisms and Therapeutic Implications.
Antioxidants (Basel, Switzerland)Repurposing Alkylating Agents in Melanoma via ERCC8 Silencing: A Novel Therapeutic Strategy.
CancersObjective assessment of long-term impact of COVID-19 on multiple sensory functions.
BMC medicineThe link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.
Experimental eye researchRandomized phase 2b dose-escalation trial of stem cell therapy with laromestrocel for aging frailty.
Cell stem cellThe impact of microbiome dysbiosis on manganese-induced neurotoxicity: Brain metabolomics and multi-organ 16S rRNA profiling in mice.
Ecotoxicology and environmental safetyThe Association Between Polypharmacy, Low Appendicular Skeletal Muscle Mass Index, and Physical Performance: A Cross-Sectional Study.
Gerontologyhs-CRP as a Marker of Systemic Low-Grade Inflammation Is Not Associated with Steatotic Liver Disease in Adolescents: Insights from the EVA4YOU Study.
MetabolitesNurse-Led Secondary Prevention After Acute Coronary Syndrome: Bridging the Gender Gap in Cardiovascular Outcomes-A Sub-Analysis of the BEAT-HF Study.
Journal of cardiovascular development and diseaseInappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?
BMJ case reportsBioaccessible sulforaphane attenuates oxidative stress-driven parainflammation in intestinal epithelial cells.
Food & functionA mixed-method analysis of health literacy and indicators of well-being in women with polycystic ovary syndrome across the lifespan.
Therapeutic advances in reproductive healthGeriatric-Typical Characteristic Complexes Predict Short-Term Outcome of Proximal Humeral Fractures in Geriatric Patients.
Clinical interventions in agingAn age-associated decline in the role of the sarcoplasmic reticulum and associated calcium-handling proteins sets the pace for sinoatrial node function.
The Journal of physiologyHeart rate variability to objectively measure fear of falling in post fall patients: a protocol study.
BMC geriatricsHippocampal Neuronal Ferroptosis Driven by Lipocalin-2 Mediates Comorbid Visceral Pain and Anxiety in Irritable Bowel Syndrome.
Molecular neurobiologyRetinal BioAge is associated with indicators of cardiovascular-kidney-metabolic syndrome in UK and US populations.
Scientific reportsEstablishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors.
Stem cell researchAn intrinsic loop-mediated structural stability modulating inhibitor potency in the SADS-CoV and SARS-CoV-2 main proteases.
PLoS pathogensTakotsubo syndrome with left ventricular thrombus: Prevention of systemic thromboembolism.
Journal of cardiology casesDeficiency of Werner RecQ-type DNA helicase causes premature malnutrition in zebrafish.
iScienceTransforming Cognitive Frailty to Later Life Self-Sufficiency (AGELESS) Study: Cohort Description and Bibliometric Analysis.
Asia-Pacific journal of public healthGestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta-Analyses.
Obesity reviews : an official journal of the International Association for the Study of Obesity[Influence of age on oncology care].
La Revue du praticienAdults with Down syndrome display altered entrainment of occipital cortical neurons.
Brain communicationsSeawater pearl hydrolysate alleviates perimenopausal syndrome by modulating hypothalamic and uterine ERα/MAPK/CREB signaling in ovariectomized rats.
Frontiers in pharmacologyThe neural underpinnings of cognitive and postural profile of a young adult with congenital cerebellar athrophy: a longitudinal case report.
Frontiers in neuroscienceIntegration over reduction: multimodal PET and fluid biomarkers in Alzheimer's disease and beyond.
Current opinion in neurologyAnticholinergic burden interacts with age and AIDS history to amplify frailty in people with HIV.
British journal of clinical pharmacologyA new inducible mouse model of FH loss.
Methods in cell biologyAntioxidant regulatory mechanisms of retinoic acid and its therapeutic potential in oxidative stress-related diseases.
Biochemical pharmacologyExploring potential mechanism of Chuanzhi Qingyu recipe for vulnerable atherosclerosis plaques based on UPLC-Q-TOF-MSE, systems biology strategy, and experimental validation.
Journal of pharmaceutical and biomedical analysisCharacterizing Sleep-disordered Breathing by Race and Ethnicity: Phenotypes, Risk, and Clinical Implications: Part 2.
Sleep medicine clinicsCharacterizing Sleep-Disordered Breathing by Race and Ethnicity: Phenotypes, Risk, and Clinical Implications-Part 1.
Sleep medicine clinicsDetection, imaging and quantification of phosphoinositides using ion chromatography suppressed conductivity and mass spectrometry imaging.
Methods in enzymologySarcopenia: An overview of emerging therapies and pathophysiological insights in age-related skeletal muscle decline.
Biochemical pharmacologySexual Dimorphism in the Development of Cardiometabolic Syndrome.
Handbook of experimental pharmacologyAge-Stratified Differences in Cardio-Reno-Metabolic Risk Profiles.
Geriatrics (Basel, Switzerland)Interpretable Prediction of Late-Stage CKM Syndrome Association From Dietary Nutrients in Accelerated Aging Using SHAP and LIME.
Food science & nutritionThe microcephaly-associated protein YIPF5 differentially regulates ER export.
iScienceExploring osteosarcopenia from the gut microbiota perspective: mechanistic insights and therapeutic potentials based on the gut-muscle-bone Axis.
Frontiers in microbiologyInsights Into Late-Onset Rheumatoid Arthritis (LORA): Characteristics (Clinical and Imaging), Comorbidities, and Therapeutic Targets.
Geriatrics & gerontology internationalAnalysis of Associated Factors and Construction of Risk Prediction Models for Frailty in Hospitalized Older Adults Living With HIV: Protocol for a Prospective Observational Study.
JMIR research protocolsLong COVID-associated neurological symptoms and brain fog: Understanding the mechanism of neuroinflammation, BBB disruption, diagnostics, and therapeutics.
Molecular biology reportsTSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex.
Neurology. GeneticsBurden and Risk Factor Patterns of Reproductive System Tumors and Non-Tumor Diseases Among Asian Women, 1990-2021: Evidence from the GBD Study.
International journal of women's healthMixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging.
NeurocaseEnergy-sensing molecule RORγ regulates cholesterol metabolism and immune signaling in diabetic kidney disease and aging.
Nature communications[A pilot study on health issues, literacy, and presenteeism related to male menopause among working Japanese men].
Sangyo eiseigaku zasshi = Journal of occupational healthAnalysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.
Pediatrics international : official journal of the Japan Pediatric SocietyNatriuretic peptide signaling as a therapeutic target in POTS: physiological opportunities and caveats.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyType 2 diabetes and risk of non-Hodgkin lymphoma and multiple myeloma: a pooled analysis.
JNCI cancer spectrumNew horizons: disrupted brain energy metabolism as a driver of delirium.
Age and ageingType 1 diabetes, ageing and frailty: an underexplored intersection.
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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.
- A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
- Neuropsychological aspects of impulse control disorders in Parkinson's disease.
- Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.
- [18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.
- Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
- Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.
- Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
- Treating Genitourinary Syndrome of Menopause in Postmenopausal Women with a History of Breast Cancer.
- Frailty trajectories and risk of incident advanced CKM syndrome: A national cohort analysis.
- Age-related vs. disease-related: how perceptions of geriatric syndromes shape health-seeking behavior in older adults.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363665(Orphanet)
- OMIM OMIM:601812(OMIM)
- MONDO:0011150(MONDO)
- GARD:4276(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783230(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
