Introdução
O que você precisa saber de cara
Doença genética rara associada a mutações no gene ANO5, caracterizada por níveis elevados de CK muscular (hiperCKemia) e mialgia, com episódios assintomáticos de rabdomiólise. Pode apresentar fraqueza muscular progressiva.
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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
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.
Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity
Endoplasmic reticulum membraneCell membrane
Gnathodiaphyseal dysplasia
Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.
Variantes genéticas (ClinVar)
321 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 hiperCKemia-mialgia-rabdomiólise assintomática
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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
Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.
Primary biliary cholangitis (PBC) is an autoimmune epithelitis of small intrahepatic bile ducts that affects predominately females, and is characterized by chronic cholestasis, circulating PBC-related autoantibodies, and progressive disease at the histological level. Key manifestations include pruritus, fatigue, hyperpigmentation, dry-gland syndrome, xanthelasmas and frequent concurrent extrahepatic autoimmune diseases, although approximately half the patients are nowadays completely asymptomatic at diagnosis. The current Consensus Statements of the Hellenic Autoimmune Liver Diseases Study Group aim to provide updated and practical statements to clinicians for PBC diagnosis and management. The presence of antimitochondrial antibodies is a key diagnostic marker for PBC. PBC-specific antinuclear antibodies (anti-gp210 and anti-sp100) also bear diagnostic and prognostic significance. Following diagnosis, this document provides guidance on the comprehensive assessment and risk stratification of patients, using demographic factors, clinical and biochemical laboratory findings, liver autoimmune serology and fibrosis stage. After 6-12 months of therapy with first-line treatment (13-15 mg/kg/day ursodeoxycholic acid [UDCA]), a new risk-stratification procedure should be performed, based on the assessment of biochemical response using a continuous scoring system (either GLOBE or UK-PBC score). In non-responders, add-on treatment to UDCA with a second-line agent, a proliferator-activated receptor agonist (PPAR), either elafibranor (PPARα/δ agonist) or seladelpar (PPARδ agonist), is recommended. The treatment target-also known as deep response-should aim to achieve bilirubin within the normal range, specifically at values <0.6× upper limit of normal, along with normalization of alkaline phosphatase. The disease-associated major symptoms (pruritus, fatigue and cognitive dysfunction) should also be promptly recognized and managed in a holistic manner, as they negatively affect the patient's health-related quality of life.
Respiratory syndromic disease study in Shanghai community population.
This prospective community-based cohort study (Acute Respiratory Infection Epidemiological Characteristics Assessment Study (ARI-ECAS)) aims to systematically monitor acute respiratory infection (ARI) incidence, characterise multiple pathogen coinfection patterns and explore microbial landscape dynamics in Shanghai's general population. By integrating syndromic surveillance, molecular diagnostics and metagenomic sequencing, the study seeks to enhance understanding of ARI epidemiology, seasonal variation and host-pathogen interactions to inform predictive modelling and optimise public health interventions in high-density urban environments. The study enrolled 15 199 permanent residents from all 16 districts of Shanghai, with baseline oropharyngeal swab samples across five representative districts (Xuhui, Jing'an, Jiading, Songjiang and Fengxian). Inclusion criteria required residency ≥6 months and consent for weekly follow-ups. Exclusion criteria addressed mobility limitations (planned relocation >6 months) and recent ARI history. Participants provided demographic, behavioural and clinical data via the Shanghai Health Cloud platform, with baseline and symptomatic-phase biological samples collected for analysis. During the initial 8-month surveillance period (May 2024-January 2025), the ARI-ECAS cohort demonstrated critical insights into the epidemiology of acute respiratory infections in Shanghai's urban communities. Among 15 199 participants, 10.96% reported symptomatic episodes, of whom 21.43% experienced recurrent infections. Pathogen detection using targeted next-generation sequencing (tNGS) identified microbial aetiologies in 53.52% of symptomatic cases, revealing a high prevalence of coinfections: 27.96% involved dual pathogens, while 33.01% showed polymicrobial interactions (≥3 pathogens). Notably, 85.09% of symptomatic episodes were self-managed, underscoring a low healthcare-seeking rate (14.91%) consistent with patterns observed in urban China during postpandemic transitions. The current phase of data collection will conclude in June 2025; however, syndromic surveillance and tNGS protocols will be sustained to capture multiyear seasonal transmission patterns. To enhance comparative rigour, future protocols will aim to collect samples from participants during asymptomatic periods in the subsequent year to serve as seasonal baseline controls. Building on this foundation, the study will integrate contact behaviour and mobility surveys to quantify parameters critical for understanding pathogen transmission dynamics (eg, household contacts and public transportation usage). Furthermore, pathogen detection and metagenomic data will be combined with transcriptomic and metabolomic profiling in selected cases to model multipathogen interaction networks and delineate host immune response pathways, thereby advancing mechanistic insights into polymicrobial cocirculation.
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.
The clinical spectrum of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection ranges from asymptomatic cases to critical COVID-19 pneumonia. To investigate the role of host genetics in susceptibility to critical COVID-19 and identify pathophysiological mechanisms and pathways, we analyzed whole-exome and whole-genome sequencing data from the COVID Human Genetic Effort. We identified 10 rare, monoallelic predicted loss-of-function variants in 18 patients in POLR3A and POLR3C encoding two subunits of RNA polymerase III (POL III), a nuclear multisubunit enzyme, which has been implicated in cytosolic DNA sensing. These variants were deleterious for expression of full-length POLR3A and POLR3C proteins. We demonstrate that human pulmonary A549-hACE2 cells with reduced POLR3A or POLR3C expression exhibit impaired type I IFN responses to transfected mitochondrial DNA (mtDNA) or SARS-CoV-2 infection, together with increased viral replication. Mechanistically, we show that SARS-CoV-2 induces cellular mtDNA release via oligomerization of the mitochondrial voltage-dependent anion channel under virus-induced oxidative stress, enabling POL III-mtDNA interaction. These findings establish POL III as a sensor of endogenous mtDNA released during viral infection and indicate that autosomal dominant POL III haploinsufficiency may predispose individuals to critical COVID-19.
[Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].
Objective: To investigate the clinical features and genotype-phenotype correlation in pediatric patients with long QT syndrome type 2 (LQTS2) caused by KCNH2 variants. Methods: A retrospective cohort study. Fifteen children with KCNH2 variants admitted to Beijing Children's Hospital, Capital Medical University, from May 2020 to August 2025 were included. Clinical data, electrocardiogram (ECG) findings, and genetic test results were collected. Variant pathogenicity was classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. The genotype-phenotype correlation was analyzed. Based on the location of protein functional domain, patients were divided into a pore-domain group and a non-pore-domain group. Differences in ECG parameters were compared between the two groups. Independent sample t-test was used for inter-group comparison. Results: The cohort included 10 males and 5 females, with the age of 9.5 (5.3, 11.9) years. Eleven patients presented with syncope as the initial symptom, while 4 cases were asymptomatic. Among the symptomatic cases, triggers included exercise/emotional stress (7 cases), awakening (2 cases), infection (1 case), and no obvious trigger (1 case). Fourteen children exhibited prolonged correct QT interval (QTc) on resting ECG, measuring 502 (490, 548) ms. Seven cases exhibited characteristic LQTS2 T-wave changes, and 8 children had concomitant arrhythmias, including 3 cases with torsades de pointes. All 15 children carried heterozygous KCNH2 variants (13 missense, 1 nonsense and 1 frameshift). Among these, 5 variants were located in the pore domain (e.g. P-loop/H5, S5), and 10 cases in non-pore domains (e.g. N-terminus, C-terminus). All pore-domain variants were classified as pathogenic according to ACMG criteria, and the QTc in this group was significantly longer than that in the non-pore-domain group ((548±32) vs. (498±45) ms, t=2.33, P<0.05). Three children in the pore-domain group experienced torsades de pointes. The non-pore-domain group showed greater clinical heterogeneity, with 5 variants classified as of uncertain significance. After the administration of beta-blockers therapy, syncope did not recur in 14 cases, while 1 case with a pore-domain variant continued to experience syncopal episodes. Conclusions: The clinical phenotype of children with KCNH2 variants is closely associated with the affected functional domain. Patients with pore-domain variants exhibit more pronounced QTc prolongation and a higher risk of malignant arrhythmias. Genotype-phenotype analysis provides important insights for clinical risk stratification, treatment selection and prognosis assessment. 目的: 探讨儿童KCNH2基因变异所致2型长QT综合征(LQTS)的临床特点及基因型-表型分析。 方法: 回顾性队列研究。选择2020年5月至2025年8月首都医科大学附属北京儿童医院收治的15例KCNH2基因变异2型LQTS患儿为研究对象,收集临床资料、心电图数据及基因检测结果,参照美国医学遗传学与基因组学学会(ACMG)指南进行变异致病性评级,分析基因型与表型的关联性,根据变异所在蛋白功能域分为孔域变异组与非孔域变异组,比较两组间心电图参数的差异,组间比较采用独立样本t检验。 结果: 15例患儿中男10例、女5例,年龄9.5(5.3,11.9)岁。11例以晕厥为首发症状、4例无症状。晕厥患儿中7例由运动或情绪激动诱发,2例在唤醒中发作,1例感染后诱发,1例无明显诱因;14例患儿静息心电图校正QT间期延长,为502(490,548)ms,7例伴2型LQTS特征性T波改变,8例合并心律失常(含尖端扭转型室性心动过速3例)。15例患儿均为KCNH2基因杂合变异(错义变异13例、无义变异1例、移码变异1例),其中5例变异位于孔域(P-loop/H5、S5 等),10例位于非孔域(N-末端、C-末端等)。孔域变异变异组ACMG指南评级均为致病变异,其校正QT间期长于非孔域变异组[(548±32)比(498±45)ms,t=2.33,P<0.05],其中3例发生尖端扭转型室性心动过速;非孔域变异组临床表现异质性大,其中5例为意义不明变异。14例接受β受体阻滞剂治疗后未再发晕厥,1例孔域变异患儿治疗后仍有晕厥发作。 结论: KCNH2基因变异患儿的临床表型与变异所在功能域密切相关,孔域变异者校正QT间期延长更显著、恶性心律失常风险更高;基因型-表型关联分析可为临床风险分层、治疗方案选择及预后评估提供重要参考。.
Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.
Congenital platelet function disorders constitute a heterogeneous group of rare, genetic conditions classified according to the affected platelet component or functionality. Sixty entities have been identified, caused by defects in around seventy-five different genes. Clinical manifestations vary, ranging from asymptomatic to life-threatening. Patients typically present with spontaneous mucocutaneous hemorrhage, but syndromic conditions and malignancy risk are sometimes associated with inherited platelet function disorders. Early and accurate diagnosis, and long-term follow-up of the affected individuals by a multidisciplinary team of experts is crucial. Guidelines on laboratory testing have been developed. The initial approach consists of a comprehensive personal and family history and thorough examination. Diagnostic workup includes complete blood count, peripheral blood smear, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Stepwise diagnostic algorithms have been suggested, optimizing the diagnosis and care of patients presenting with clinical symptoms typical for congenital platelet function disorders. Further advancement and wider access to more recent diagnostic technologies are key to providing optimal personalized management and therapy. The future will entail earlier application of genomics, diagnostic tools enhanced by artificial intelligence, international collaborative networks and streamlined diagnostic models.
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Proceedings of the National Academy of Sciences of the United States of AmericaType III abdominal cocoon syndrome presenting as mechanical small bowel obstruction: a rare pediatric case report.
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Cureus[Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].
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Frontiers in geneticsGorham-Stout disease presenting as chest wall defect: A case report and review of literature.
Turk gogus kalp damar cerrahisi dergisiHidden SARS-CoV-2 Omicron Infections in Young Children: What Routine Tests Do Not Tell.
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American journal of preventive cardiologyNewborn With Abnormal ECG and Family History of Sudden Cardiac Arrest.
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Case reports in cardiologyThe Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
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International journal of molecular sciencesReview Article: Overview of Clinical Genetics of Diabetes Mellitus.
GenesTransesophageal Electrophysiological Study in Children Under 12 Years of Age with Asymptomatic Wolff-Parkinson-White Syndrome.
BiomedicinesHuman strongyloidiasis in rural villages of South Kalimantan, Indonesia: A case series.
Narra JA giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
Frontiers in pediatrics[Incidental finding of negative T waves: a case of endomyocardial fibrosis].
Giornale italiano di cardiologia (2006)Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.
Journal of arrhythmiaThe Silent Strain: Grip Strength, and Wrist/Hand Musculoskeletal Disorders among Meat Cutters.
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Frontiers in immunologyLeft Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.
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Scandinavian journal of gastroenterologyMoyamoya Vasculopathy and Atypical Moyamoya-like Patterns: Insights into Diagnosis and Therapeutic Implications.
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ESC heart failureVariable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
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Primary health care research & developmentMultimodal management of hormonal and oncological progression in PTHrP-secreting pancreatic neuroendocrine tumours.
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Frontiers in cardiovascular medicineHereditary diffuse gastric cancer: between underdiagnosis and overtreatment: a case series.
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ReumatismoWide variations in the alpha angle reporting of the hip in asymptomatic individuals-a systematic review.
Journal of hip preservation surgeryPrimary Biliary Cholangitis Pathogenesis: A Pathophysiology-Based Narrative Review.
International journal of molecular sciencesMeesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
International journal of molecular sciencesThe Role of Nut Sensitization in Pru p 3-Sensitized Patients: A XGBoost and Generalized Linear Model Application.
International journal of molecular sciencesClinical and Imaging Features of Aortic Penetrating Atherosclerotic Ulcers: A Systematic Review and Meta-Analysis.
Journal of clinical medicineLeft Ventricular Noncompaction Syndrome.
Cardiology in reviewPerinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.
Pediatric researchSuccessful long-term results (> 5 years) of superselective transarterial chemoembolization in symptomatic/enlarging liver hemangiomas: a paradigm shift at a hepatopancreatobiliary surgery unit.
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Journal of arrhythmiaSemicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.
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OphthalmologyIsolated Pulmonary Light Chain Deposition Disease.
European journal of case reports in internal medicinePentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.
JACC. Case reportsREM Sleep-Associated Asystole.
JACC. Case reportsVulvar Necrosis Following Uterine Artery Embolisation for Uterine Fibroid Treatment: A Case Report and Literature Review.
CureusScreening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.
Ear and hearingPaediatric colchicine poisoning in the UK: a 10-year retrospective case series from the National Poisons Information Service.
Archives of disease in childhoodSerum S100A8 as a potential biomarker for diagnosis of antiphospholipid syndrome and risk stratification among aPL carriers.
Lupus science & medicineInpatient initiation of tuberculosis preventive therapy with 1 month of isoniazid and rifapentine for adults with advanced HIV disease and cryptococcal meningitis (IMPROVE): a non-inferiority, randomised controlled trial.
The lancet. HIVEvaluation of Strongyloides stercoralis Ss-IR Recombinant Antigen Using a Bead-Based Immunoassay.
The American journal of tropical medicine and hygieneAcute cyclosporine overdose in a child with nephrotic syndrome: a case report and literature review.
Frontiers in pediatricsOptic nerve and susceptibility imaging at asymptomatic stage of multiple sclerosis: impact and predictive value.
Brain communicationsHuman Intestinal Spirochetosis as a Cause of Chronic Diarrhea in an Immunocompetent Patient: A Case Report.
CureusExploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases.
Translational pediatricsCoronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.
AJNR. American journal of neuroradiologyFeasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.
ESMO gastrointestinal oncology[Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsClinical application of dynamic visual acuity for detection of eye diseases: a scoping review protocol.
BMJ openEpidemiology and genomic features of MERS coronavirus in Africa: a systematic and meta-analysis review.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases[Application of molecularly imprinted polymers-based sensors for determination of acute coronary syndrome biomarkers].
Se pu = Chinese journal of chromatographyCerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.
AACE endocrinology and diabetes[A case of cryptogenic stroke with platypnea-orthodeoxia syndrome and paroxysmal atrial fibrillation].
Rinsho shinkeigaku = Clinical neurology[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].
Zhonghua nei ke za zhiSacral Tarlov cysts and spontaneous persistent genital arousal: 2 unrecognized and underappreciated health conditions with an uncertain relationship.
AJOG global reportsExpanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.
Neurology. GeneticsHigh-risk atherosclerotic plaque features, covert brain infarcts, and cognitive performance: a cross-sectional analysis of the carotid artery multi-modality imaging prognostic study.
European journal of preventive cardiologyIs Carbon Monoxide Poisoning a Potential Trigger for Spontaneous Coronary Artery Dissection? A Case Report and Review of the Literature.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirLiterature review of leukoencephalopathy with calcifications and cysts and a case report.
Frontiers in neuroscienceSevere Recurrent Gastrointestinal Bleeding and Diagnostic Dilemmas in Zollinger-Ellison Syndrome: A Case Report.
GE Portuguese journal of gastroenterologyVasoproliferative-Like Retinal Tumors Associated With Retinal Vasculitis in Behçet's Syndrome: Two Case Reports and Literature Review.
Ocular immunology and inflammationProspective observational study of magnetic resonance imaging in anti-CD19 CAR T-cell-associated neurotoxicity.
Journal of neurologyNon-Functional Paraganglioma of the Urinary Bladder: A Rare Cause of Bladder Tumor.
IJU case reportsA novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.
Frontiers in endocrinologyAlterations in CSF Amyloid-β and Tau Biomarkers in Former College and Professional American Football Players: Findings from the DIAGNOSE CTE Research Project.
Journal of neurotraumaEnvironmental risk factors and conversion to multiple sclerosis in subjects with radiologically isolated syndrome: a case-control study.
Journal of neurologyThe clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.
Communications medicine46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
Clinical endocrinologyPancreatic Mucinous Cystic Neoplasms Following GLP-1 Receptor Agonists Use: A Report of Two Cases with Literature Review.
Journal of gastrointestinal cancerAsymptomatic Asystolic Carotid Sinus Hypersensitivity Predicts Asystolic Events During ILR Monitoring in Reflex Syncope Patients.
JACC. Clinical electrophysiologySustained Transmural Drainage with Plastic Stents After LAMS Removal in Disconnected Pancreatic Duct Syndrome: Evidence from a Systematic Review and Meta-Analysis.
Revista espanola de enfermedades digestivasLiver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?
Life (Basel, Switzerland)Postnatally Acquired Neonatal CMV Infection in Preterm Infants: From a Case Series to a Narrative Review of the Literature.
Children (Basel, Switzerland)Thickening of Dorsal Foot Nerves: A Frequent Sonographic Finding in Asymptomatic Volunteers, Potentially Leading to False Positive Results.
Diagnostics (Basel, Switzerland)Association of nephrolithiasis history with adverse outcomes in cardiovascular-kidney-metabolic syndrome.
Renal failureDeficits in dynamic stability revealed by the Y-Balance test in middle-aged and elderly adults with patellofemoral pain.
Journal of orthopaedic surgery and researchAtrioventricular area difference assessed by exercise cardiovascular magnetic resonance shows impaired diastolic filling in patients with heart failure.
Journal of applied physiology (Bethesda, Md. : 1985)Risk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.
Journal of pediatric gastroenterology and nutritionPathological diagnosis and therapeutic management of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma.
International cancer conference journalParamagnetic Rim Lesions and Development of Clinical MS in Radiologically Isolated Syndrome.
JAMA neurologyS100 Protein and Interleukin Biomarkers Among COVID-19 Subjects With and Without Pneumonia: A Systematic Review and Meta-Analysis.
British journal of biomedical scienceCase Report: A case of heart failure recovery after non-ischemic cardiomyopathy following chimeric antigen receptor T-cell therapy.
Frontiers in cardiovascular medicineLong Segment Coarctation of the Abdominal Aorta in a 12-Year-Old Patient: A Case Report.
CureusSevere left ventricular dilatation and mitral regurgitation secondary to ALCAPA in childhood: a case report.
Archivos peruanos de cardiologia y cirugia cardiovascularPectoralis minor tenotomy in the treatment of painful shoulder syndromes associated with scapular dyskinesis.
Journal of shoulder and elbow surgeryStanding anterior pelvic tilt is correlated with the proximal femur shape of individuals with cam morphology.
Clinical biomechanics (Bristol, Avon)Coronavirus disease 19 death among infants with complications of severe acute malnutrition, Kenema district, Sierra Leone, June 2020: a case series.
Journal of medical case reportsAbsenteeism related to respiratory infections among healthcare personnel in hospitals in Greece from 2020-2021 to 2024-2025.
VaccineSevere Hypocalcemia in Hungry Bone Syndrome After Parathyroid Surgery: A Case Study and Review.
The American journal of case reports[Asymptomatic ventricular pre-excitation].
La Revue du praticienPeripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.
CNS neuroscience & therapeuticsPreoperative Botulinum Toxin for Complex Diaphragmatic Paralysis: A Case Series.
Journal of abdominal wall surgery : JAWSContrasting immune responses in COVID-19: insights from healthcare workers and infected patients on plasmablast, pDC, and NK cell dynamics.
Frontiers in immunologyBrugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant.
American journal of medical genetics. Part ACD40-CD40L inhibition attenuates platelet-neutrophil interaction and neutrophil extracellular trap release in primary antiphospholipid syndrome.
Annals of the rheumatic diseasesImmune evasion and pathogenesis of henipaviruses.
Current opinion in virologyPostinfectious Syndromes and Long-Term Sequelae after Giardia Infections.
Emerging infectious diseasesPeople With Marfan Syndrome Utilize an Ankle Dominant Strategy to Perform the Sit-to-Stand Task.
Journal of applied biomechanicsSalivary cortisol in long COVID: a marker of broader stress system and circadian rhythm dysregulation.
Frontiers in cellular and infection microbiologyEstimation of white spot syndrome virus severity grades dynamics in whiteleg shrimp (Penaeus vannamei) during the disease transition process.
Journal of invertebrate pathologyLymphoid malignancy and clonality in the POT1-mediated long telomere syndrome.
BloodAnnular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.
Reports (MDPI)Exercise stress test unmasking a Brugada pattern in a survivor of cardiac arrest: a case report.
European heart journal. Case reportsPrevalence of Metabolic Dysfunction-Associated Steatotic Liver Disease Among Overweight and Obese Patients With Type 2 Diabetes Mellitus.
CureusUnraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.
Clinical geneticsPinch-off syndrome leading to catheter fracture: a rare complication of central venous port systems, a case report.
BJR case reportsCardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiAssessment of impact of low-flow state on long-term outcome in multiethnic population using cardiac magnetic resonance.
American journal of physiology. Heart and circulatory physiologyAssociações
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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.
- Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.
- Respiratory syndromic disease study in Shanghai community population.
- Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41838921mais citado
- [Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].
- Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.
- The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.
- Cryoglobulinemia, monoclonal and mixed cryoglobulinemia syndromes, cryoglobulinemic vasculitis: a proposal for comprehensive nomenclature and definition.
- Severe Hypocalcemia in Hungry Bone Syndrome After Parathyroid Surgery: A Case Study and Review.
- Postinfectious Syndromes and Long-Term Sequelae after Giardia Infections.
- Cannabis Use Patterns and Blood Profiles in Adolescent Cannabinoid Hyperemesis Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:689021(Orphanet)
- MONDO:0975918(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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