Introdução
O que você precisa saber de cara
Síndrome rara com febre recorrente, enterocolite e inflamação sistêmica. Apresenta baixa estatura, fadiga, anemia e alterações hematológicas (trombocitopenia, pancitopenia), associada a mutações no gene NLRC4.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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 29 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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.
Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity)
CytoplasmCytoplasm, cytosolInflammasome
Autoinflammation with infantile enterocolitis
An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias.
Variantes genéticas (ClinVar)
75 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 791 variantes classificadas pelo 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 autoinflamatório de febre periódica-enterocolite da infância
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
Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
Trophic feeding generally refers to providing small quantities of enteral feeding soon after birth. A study in Ethiopia highlighted substantial delays in starting therapeutic feeding (TF) for newborns. While guidelines recommend initiating TF within 24 hours of birth, an alarming 80-90% of infants did not begin feeding within 48 hours. Only 20% started TF within the advised timeframe. Furthermore, 29% of these infants did not survive until discharge, and 86.2% experienced extrauterine growth restriction. As a result, this study aims to assess the time to initiation of TF and its predictors among preterm neonates in the Tigray region. A prospective, institutional-based follow-up study was conducted on 193 preterm neonates admitted to the Neonatal Intensive Care Unit, with participants selected using systematic random sampling from a group of public hospitals.:The data collection period was from December 20, 2024, to February 30, 2025. Data was entered into Epi-Data version 4.7 and then exported to STATA version 14 for cleaning and analysis. To compare survival curves, Kaplan-Meier analysis and the log-rank test were used, bivariate and multivariate Cox regression analysis were used, all statistical tests were considered significant at a p-value of <0.05. A total of 193 neonates were followed for 8382 person-hours of risk time and 173 (89.6%) of neonates were initiated trophic feeding. The incidence rate of initiating trophic feeding was 2 per 100 person hours' observations with a median time of 45 hours (95% CI: 42-56). Birth weight <1500 gram (AHR: 0.16,95% CI:0.075-0.35), APGAR score at first minute < 7 (AHR: 0.46,95% CI:0.26-0.76),APGAR score at fifth minute < 7 (AHR: 0.38,95%CI:0.21-0.68, having respiratory distress syndrome (AHR: 0.41,95% CI:0.25-0.66, and absence of Kangaroo mother care (AHR: 0.41,95% CI:0.21-0.77), were statistically Significant associated factors for the delay of initiation of trophic feeding. In this study, a significant delay in the initiation time of trophic feeding. Therefore, health institutions should work on very low birth weight, APGAR scores below seven at one and five minutes, the presence of RDS, and the absence of KMC to shorten the initiation time and reduce complications associated with the delay.
Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E-mediated food allergy that typically causes delayed gastrointestinal symptoms following the ingestion of a trigger food. FPIES is a rare condition with limited epidemiological data. This study aimed to investigate the demographic characteristics, triggers, clinical presentations, and outcomes of children with acute FPIES at the University Children's Hospital Zurich, a tertiary-level children's hospital in Switzerland, with a dual focus on confirmed and suspected FPIES cases. This retrospective study covered a 10-year period (2010-2020). Electronic medical records were screened for patients diagnosed with acute FPIES and those with symptoms suggestive of FPIES according to international diagnostic criteria. Those paediatric patients with an acute FPIES diagnosis or a history highly suggestive of FPIES were included. A total of 109 patients with acute FPIES were identified. Cow's milk (CM) was the most common food trigger (24%), followed by eggs (12%) and fish (10%). A single food trigger was identified in 56% of the patients. The median age of onset was 6 months (interquartile range (IQR), 4 months). Gender had no effect on observed FPIES cases. Data on FPIES tolerance and therefore resolution of FPIES symptoms and/or successful reintroduction of the triggering food were limited, with sufficient follow-up information available for only 37% of confirmed and 25% in suggestive cases: 27.5 months for CM (IQR, 15.75 months), 67.5 months for fish (IQR, 33.5 months), and 32 months for egg (IQR, 14.5 months). Conclusion: The study contributes practical epidemiological and clinical insights into FPIES triggers, patterns, and patient characteristics, and provides further regional insights to navigate this complex condition. What is Known: • FPIES is a rare, non-IgE-mediated food allergy, particularly affecting infants and young children. • FPIES is often under-recognized, resulting in delayed diagnosis and management. What is New: • By providing robust real-world data on acute FPIES, this study provides a decade-long overview of acute FPIES cases, detailing key food triggers, identifying gaps in clinical practice and delays in diagnosis, and contributing regional epidemiologic data that may not be apparent in short-term studies and underscore geographic variability in presentation and triggers.
Antiviral effect of cetylpyridinium chloride on SARS-CoV-2 in patients with COVID-19: An Observational Study.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the viral agent responsible for the COVID-19 pandemic and primarily invades the body through the oral cavity. Cetylpyridinium chloride (CPC), a widely used component of oral care products, has demonstrated antiviral effects against SARS-CoV-2; however, the clinical evidence remains limited. This study investigated the virucidal effects of oral CPC in patients with COVID-19 and its impact on reverse transcription polymerase chain reaction (RT-PCR) positivity. Thirty-four patients with COVID-19 were initially recruited after obtaining positive PCR test result. This study was conducted during a nationwide Delta-variant-driven epidemic characterized by high viral loads and enhanced transmissibility. Saliva was collected at seven predefined time points to assess the effects of CPC-containing tablets and mouthwash. Viral RNA levels and infectious viral titers were quantified using qRT-PCR and plaque assays. Sixteen patients with detectable SARS-CoV-2 RNA in baseline saliva samples who completed all scheduled samplings constituted the final analytical cohort. During the Delta-variant-predominant period, CPC-containing tablets reduced both SARS-CoV-2 RNA levels and viral infectivity in saliva. In contrast, CPC-containing mouthwashes did not significantly reduce viral RNA levels compared to baseline samples. The RT-PCR positivity rates after CPC use varied according to the applied cycle threshold (Ct) cutoff values. CPC-containing tablets transiently decrease the SARS-CoV-2 salivary viral load and infectivity and may help reduce the risk of transmission in public settings. When CPC formulations are used prior to saliva-based PCR testing, the Ct cut-off values may require adjustment. Despite challenges in conducting saliva-based clinical research in COVID-19 patients, this study provides clinical evidence supporting the antiviral efficacy of CPC formulations on salivary SARS-CoV-2 during the Delta-variant pandemic.
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.
Association between preoperative COVID-19 and major postoperative pulmonary complications: a multicentre observational cohort study in China.
To evaluate the relationship between preoperative COVID-19 infection and major postoperative pulmonary complications (PPC) risk after major elective surgeries during the Omicron wave. A multicentre, prospective, observational cohort study. Four tertiary medical centres in Beijing, China. All adult patients who underwent major elective surgeries under general anaesthesia from 30 December 2022 to 18 May 2023 were screened for eligibility. A total of 3211 patients were included. The primary outcome was 30-day major PPC, defined as pneumonia, acute respiratory distress syndrome or unexpected postoperative ventilation. The secondary outcomes included length of hospital stay (LOS), reoperation and mortality. Major PPC occurred in 3.5% of patients with preoperative COVID-19 and 3.3% of those without. Inverse probability of treatment weighting-adjusted analysis showed no significant association between preoperative COVID-19 within 12 weeks and PPC risk (adjusted OR, 0.89; 95% CI 0.69 to 1.13). However, multivariable analysis revealed that COVID-19 infection within 3 weeks was independently associated with an increased PPC risk (OR, 3.44; 95% CI 1.37 to 8.68). Cardiothoracic surgery (OR, 12.47; 95% CI 8.11 to 19.17) and longer duration of surgery (OR, 1.24 per hour; 95% CI 1.13 to 1.37) were significant risk factors. In the cardiothoracic subgroup, PPC risk was significantly elevated within 7 weeks of infection. No significant differences were observed in LOS, reoperation rates or mortality between patients with and without preoperative COVID-19 infection. Preoperative COVID-19 infection within 12 weeks was not associated with an increased overall risk of major PPC during the Omicron wave. Although very short infection-to-surgery intervals and cardiothoracic surgery showed exploratory signals of higher risk, these findings should be interpreted cautiously and support an individualised approach to perioperative risk assessment. ChiCTR2200067250.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 198
"To save them we have to hurt so many other parts of them": clinician perceptions of stress in infants undergoing cardiac surgery.
Cardiology in the young[Sleep disorders and mental health].
Therapeutische Umschau. Revue therapeutiqueTisdale-score-based risk stratification of QTc prolongations in hospitalized patients receiving azole antifungal therapy-a retrospective study.
Frontiers in cardiovascular medicineSevere postpartum sepsis secondary to a deep vaginal hematoma: clinical and therapeutic aspects.
Medicine and pharmacy reportsNeurorehabilitation of Visual Neglect: A Narrative Review of Approaches from A.R. Luria to Modern Clinical Protocols.
Consortium psychiatricumConstruction and validation of a risk-prediction model for hypovolemic shock after cytoreductive surgery in patients with ovarian cancer: a retrospective study.
PeerJComprehensive Assessment of Cardiovascular Risk Factors among Long-Haul Truck Drivers in South Brazil and its Impact on 3-year follow-up of Cardiovascular Events.
Journal of occupational and environmental medicine[Caring for a Patient With Rare Urachal Carcinoma and Facilitating Family Medical Decision-Making: A Case Report].
Hu li za zhi The journal of nursingThe selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.
Progress in neuro-psychopharmacology & biological psychiatryDifferential Factors Associated With the Presence of Persistent Symptoms in Individuals Diagnosed With Long COVID: Protocol for a Longitudinal Matched Case-Control Study.
JMIR research protocolsRisk factor heterogeneity across cardiovascular disease outcomes in treatment-eligible hypertensive patients.
Journal of hypertensionClinical Characteristics and Trends of Lymphogranuloma Venereum Versus Non-LGV Chlamydia trachomatis Anorectal Infections: A Six-Year Retrospective Study.
Sexually transmitted diseasesInherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsA Cost Analysis of Carpal Tunnel Procedures Performed in an Office Procedure Room Versus a Hospital Operating Room in a Rural Midwest Health System.
Plastic surgery (Oakville, Ont.)Effect 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.
CureusHybrid Common Femoral Vein Endophlebectomy and Iliac Vein Stenting Versus Femoro-Femoral Venous Bypass for Management of Chronic Iliofemoral Venous Occlusion.
Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists18F-Choline PET/CT Localization in a 20-Year Experience of Re-Operative Parathyroidectomy.
World journal of surgeryEnhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.
The EMBO journalNeuromelioidosis Causing Rapidly Progressing Neurological Syndromes Mimicking Stroke and Demyelination: Insights from a Case Series.
Travel medicine and infectious diseaseRespiratory syncytial virus - from discovery to vaccines.
Journal of medical microbiologyTime to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
PloS onePredictors of 30-day readmissions post-CAR-T in patients with relapsed/refractory multiple myeloma using the United States nationwide readmission database.
Annals of hematologyChemotherapy and the Skin: Understanding Dermatologic Side Effects.
CureusHypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
CureusVaricella-Zoster Virus Infection in an Immunocompromised Patient With Seizure-Like Activity and Septic Shock: A Case Report.
CureusEtiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.
International medical case reports journalA New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.
American journal of medical genetics. Part AAortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansCardiovascular health factors and altered proteomic landscapes in the progression of cardiovascular-kidney-metabolic syndrome: Evidence from multi-cohorts in China, the UK, and the US.
Metabolism: clinical and experimentalBidirectional association between irritable bowel syndrome and depression among probands and unaffected siblings: A nationwide population-based study.
General hospital psychiatryTherapeutic Plasma Exchange for Uncontrollable Bleeding After Platelet Inhibition with Ticagrelor: A Report of 2 Cases.
The American journal of case reportsAcute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
European journal of pediatricsOrthopedic Visits and Procedures Preceding Rheumatoid Arthritis Diagnosis: A Nationwide Case-Control Study.
Joint bone spinePARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.
TrialsAntiviral effect of cetylpyridinium chloride on SARS-CoV-2 in patients with COVID-19: An Observational Study.
Journal of oral biosciencesExercise interventions for physical function, psychological health, and quality of life in patients with myalgic encephalomyelitis/chronic fatigue syndrome and fibromyalgia: A systematic review and network meta-analysis.
Journal of psychosomatic researchNatural products targeting the gut-brain axis for the treatment of post-cardiac procedures anxiety or depression.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAssociation between short-term air pollutant exposure and influenza incidence in Shanghai, China: A case-crossover study.
International journal of biometeorologyThe effects of glucagon-like peptide-1 receptor agonists on fertility, contraception, and pregnancy: clinical perspectives.
The European journal of contraception & reproductive health care : the official journal of the European Society of ContraceptionChildren born to mothers receiving chronic dialysis, a national French cohort (2013-2021).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationRespiratory Virus Coinfection Is a Risk Factor for Adverse Outcomes During Staphylococcus aureus Bacteremia.
Open forum infectious diseasesDoes age delay gastric emptying? Ultrasound reveals altered dynamics in the aged population.
Frontiers in medicineSecukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.
Clinical, cosmetic and investigational dermatologyMonitoring Kleine-Levin Syndrome Recovery Using Human-Smartphone Interactions: A Digital Phenotyping Approach.
Journal of sleep researchRespiratory syndromic disease study in Shanghai community population.
BMJ openAssociation between preoperative COVID-19 and major postoperative pulmonary complications: a multicentre observational cohort study in China.
BMJ openPrevention and Management of Acute Chest Syndrome Without Automated Red Cell Exchange Among Patients With Sickle Cell Disease Not Requiring ICU Care: A Systematic Review and Network Meta-Analysis.
European journal of haematologyAssociation between cumulative exposure to metabolic score for visceral fat and the risk of stroke in a population with cardiovascular-kidney-metabolic syndrome stages 0-3: a nationwide prospective cohort study.
Nutrition, metabolism, and cardiovascular diseases : NMCDLong-term follow-up results of patients with combined pulmonary fibrosis and emphysema: A single-center experience.
Respiratory medicineAssociation between COVID-19 vaccination and sudden death in apparently healthy younger individuals: A population-based case-control study.
PLoS medicineArgon laser demarcation of AIDS-related cytomegalovirus retinitis in resource-limited setting.
International ophthalmologyThe Optimal Management Strategy for IGA Nephropathy Patients With Different Clinical Presentations.
Nephrology (Carlton, Vic.)Impact of healthcare-associated respiratory virus infections in children.
Infection prevention in practiceCase Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.
Frontiers in immunologyVariant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.
Frontiers in public healthA Decade-Long Journey of Steroid-Dependent IgA Nephropathy with Minimal Change Disease from Immunosuppressants to Rituximab and then to Obinutuzumab: A Case Report.
Case reports in nephrology and dialysisAccelerated early weight gain of neonatal puppies from overweight bitches compared to lean dams in spite of similar milk macronutrient composition.
Frontiers in nutritionFrailty and Recurrent Cardiovascular Events in Patients With Obstructive Sleep Apnoea: The SAVE Study.
Journal of cachexia, sarcopenia and muscleAssociation of Serum Lipids with 10-Year CVD and All-Cause Mortality in Iranian Adults: A Prospective Cohort Study.
Archives of Iranian medicineDifferences in heart DNA methylation between sudden infant death syndrome and other sudden deaths.
Clinical epigeneticsPhysiological dissociation between ventilatory ratio and ventilatory efficiency in patients with ARDS.
Intensive care medicine experimentalCofilin-1 is a redox-sensitive guard of the NLRP3 inflammasome.
Nature immunologyPutamen Atrophy as a Predictive Factor of Efficacy of GPi-DBS in Dystonia-Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy.
Movement disorders : official journal of the Movement Disorder SocietyIncreased Risk of Postoperative Complications Following Total Knee Arthroplasty in Patients Who Have Metabolic Syndrome.
The Journal of arthroplastyEffectiveness of Custom-Made Mouthpieces in the Prevention of Diver's Mouth Syndrome (DMS).
European journal of dentistryDeveloping a practical machine learning model to predict post implantation syndrome after endovascular aneurysm repair.
CVIR endovascularTemporal Trends in Outcomes After Out-of-Hospital Cardiac Arrest Transported to Critical Care Medical Centers in Japan, 2014-2022: A Nationwide Retrospective Observational Study.
Critical care medicineReal-world healthcare resource utilization and clinical outcomes among patients with relapsed/refractory multiple myeloma receiving ciltacabtagene autoleucel after four or more prior lines of therapy in inpatient versus outpatient settings.
Journal of medical economicsPediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).
Frontiers in pediatricsTemporal relationship between inflammation and metabolic disorders and its influence on atherosclerotic cardiovascular disease.
Frontiers in cardiovascular medicineImpact of the LCBO strike on Ontario emergency department visits with an alcohol-related chief complaint: a natural experiment in alcohol policy.
Frontiers in public healthA Study of Cutaneous Manifestations in Patients During the Post-COVID Period in A Tertiary Care Center.
Journal of pharmacy & bioallied sciencesPrevention of Pressure Injuries During Nasal Continuous Positive Airway Pressure in Newborns: A Non-pharmacological Intervention Trial.
Nursing in critical carePrevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.
The Turkish journal of gastroenterology : the official journal of Turkish Society of GastroenterologyAnxiolytic, anti-depressive and cognition-enhancing effects of total saponins from lily bulbs in ovariectomized mice: A potential therapy for menopause-associated emotional disorders.
Journal of integrative medicineUnveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.
Cell biochemistry and functionComparative Effectiveness of Nonsteroidal Anti-inflammatory Drugs and Glucocorticoids in Managing Postoperative Pain Syndrome.
Prague medical reportA case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met.
Clinical journal of gastroenterologyEmerging Urinary Biomarkers for Diagnosis, Phenotyping, and Treatment Monitoring in Female Overactive Bladder: A Systematic Review.
International urogynecology journalEfficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.
Journal of child neurologyFatal Hemorrhagic Rupture of a Cystic Hepatic Hemangioma in a 27-Week Preterm Neonate.
CureusA preclinical mouse model mimicking the ovarian cancer-induced estrogen deficiency-depression axis.
Animal models and experimental medicineGranulocyte and monocyte adsorption therapy in sepsis: a propensity score-matched analysis.
Journal of intensive careRecurrent ventricular asystole during octreotide infusion in a patient with pancreatic neuroendocrine tumor: a case report.
Journal of medical case reportsComparative efficacy and safety of rituximab versus cyclophosphamide with steroids in primary membranous nephropathy: a systematic review and meta-analysis.
BMC nephrologyAssociation of COVID-19 vaccines and antibody response in individuals with prior Coronavirus infection.
Scientific reports[Research hotspots and trends of acupuncture-assisted female reproduction: a bibliometric analysis based on CiteSpace and VOSviewer].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionStudy protocol for a feasibility randomised controlled trial of MOVE SMART-An intervention to increase physical activity, reduce sedentary behaviour and improve health outcomes in patients with psoriasis.
PloS oneAdrenocortical Carcinoma as a Manifestation of Birt-Hogg Dubé Syndrome.
Endocrine-related cancerL-carnitine improves polycystic ovary syndrome by increasing CYP11A1, estrogen receptor, and decreasing XNIP and VEGF expression.
Naunyn-Schmiedeberg's archives of pharmacologyExtended-Release vs Sublingual Buprenorphine in Pregnancy Through 12 Months Post Partum: A Randomized Clinical Trial.
JAMA internal medicineCarpal tunnel syndrome caused by tophaceous gout: a case series and review of the literature.
International journal of surgery case reportsOutcomes of ME/CFS following infectious mononucleosis: seven-year follow-up of a prospective study.
Frontiers in medicineAdherence to Acthar Gel (RCI) and Outcomes in Patients with Membranous Nephropathy: A Claims Database Analysis.
ClinicoEconomics and outcomes research : CEORDramatic reversal of severe left ventricular dysfunction after percutaneous nephrostomy in a patient with bilateral impacted ureteral stones.
Journal of surgical case reportsDifferential cardiometabolic outcomes of leuprolide versus spironolactone in women with polycystic ovary syndrome.
Proceedings (Baylor University. Medical Center)A clinico-molecular classification scheme for ossification of ligamentum flavum: Based on 1034 cases.
Journal of orthopaedic translationChronic consumption of energy drinks and the risk of developing metabolic syndrome in rats.
PeerJAcute post-infusion hypokalemia following rituximab therapy in patients with nephrotic syndrome: case series and literature review.
Frontiers in pharmacologySpectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases.
CureusCardiac rehabilitation based on enhanced external counterpulsation in patients with acute coronary syndrome.
Frontiers in cardiovascular medicinePosterior Vitreous Detachment Determines the Clinical Impact of Fibrovascular Membrane Fibrosis After Anti-VEGF Treatment in Proliferative Diabetic Retinopathy: A Real-World Study.
Clinical ophthalmology (Auckland, N.Z.)[The association between adverse childhood experiences and comorbid anxiety/depression in irritable bowel syndrome: A UK Biobank Study].
Zhonghua nei ke za zhiClinical and Economic Implications of Immunoglobulin Use Under Restrictive Conditions in Adult Patients With Neurological Diseases and Immunodeficiencies in Spain.
European journal of neurology[Correlation study between tumor location and pathological subtypes of neuroblastic tumors associated with opsoclonus myoclonus ataxia syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsRedefining Hematology Referral Thresholds for Eosinophilia.
European journal of haematologySafety monitoring of health outcomes following RSVPreF3 + AS01 and RSVPreF vaccination among Medicare beneficiaries aged 65 years and older in the United States, 2023-2024.
VaccineTowards Ending HIV/AIDS by 2030: Trajectory of Sub-Saharan Africa-A Post-COVID-19 (2019-2024) Review.
Reviews in medical virologyBibliometrics of scientific biomedical publications on Primary Immunodeficiency Diseases in the Arab World (2020-2024).
La Tunisie medicalePost-heparin plasma lipase activities in patients with severe hypertriglyceridemia treated with evinacumab.
Journal of lipid researchChronic High-Carbohydrate And High-Fat Diet-Induced Metabolic Syndrome Leads To Adrenal Dysfunction, Altered Dendritic Morphology In Limbic Regions, And Anxiety-Like Behaviors In Male Rats.
Journal of molecular neuroscience : MNThe Rate and Timing of Revision Carpal Tunnel Release with Long-Term Follow-Up.
The Journal of hand surgeryClinical, practical, and psychosocial challenges of living with glucose transporter type 1 deficiency syndrome.
SeizureTime-Restricted Eating and Symptom Severity in Irritable Bowel Syndrome: Results from a Pilot Study.
NutrientsSkipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.
International journal of molecular sciencesNETosis Markers (ssDNA, dsDNA) as Predictors of Mortality and Hospitalization After Endovascular Aortic Repair.
International journal of molecular sciencesPrognostic Value of Hepatic T1 Mapping in Patients with Takotsubo Syndrome.
Journal of clinical medicineNeurologic Symptoms and Cerebrovascular Events During Atogepant Therapy: A Case Series with Contextual Comparison with a Non-Gepant-Treated Migraine Cohort.
Journal of clinical medicineOutcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
Journal of clinical medicineDeveloping a general research framework for long COVID using causal modelling.
Communications medicinePost-COVID-19 surge in Guillain-Barré syndrome during the Omicron wave in China with clinical characteristics and potential immune-mediated pathways.
Scientific reportsMULTI-COUNTY TICK SURVEY (ACARI: IXODIDAE) IN MISSOURI USA, 2019 AND 2021.
Journal of the American Mosquito Control AssociationTemporal variation in incretin and insulin secretion in ponies in association with dietary macronutrients.
Veterinary journal (London, England : 1997)Metabolic parameters as a predictor of relapse in patients with schizophrenia undergoing tapering of antipsychotics.
Journal of psychiatric researchBody composition paradox: high muscle mass and adiposity jointly predict incident chronic kidney disease in a Korean cohort.
Clinics (Sao Paulo, Brazil)"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".
Plastic and reconstructive surgeryThe Association of Iatrogenic Withdrawal With Opioid and Benzodiazepine Weaning in Children With Bronchiolitis: A Single-Center, Retrospective Cohort Study, 2012-2022.
Critical care explorationsNeonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report.
CureusThoracic Outlet Syndrome: An Overlooked Diagnosis in the Pediatric Population.
EplastyChronic Obstructive Pulmonary Disease and Overtraining Syndrome: A Narrative Review.
CureusThrombotic microangiopathy after kidney transplantation: diagnosis and management strategies.
Clinical kidney journalBurden 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 journalEfficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.
Frontiers in endocrinologySpontaneous Onset of Postoperative Chilaiditi Syndrome: A Case Report and Its Potential Other Association?
Journal of medical casesExploring the factors of premenstrual tension syndrome and their influence on academic performance among female university students in Bangladesh: A cross-sectional study.
Women's health (London, England)Association of the estimated glucose disposal rate combined with a body shape index with all-cause and cardiovascular-specific mortality among individuals with cardiovascular-kidney-metabolic syndrome.
Cardiovascular diabetologyDon't Go To The Hospital in July? Not True in Obstetrics.
American journal of obstetrics & gynecology MFMMECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.
Journal of child neurologyEarly LDL-C Lowering Efficacy of High-intensity Atorvastatin and Ezetimibe Combination Compared with High-intensity Atorvastatin Alone in Acute Coronary Syndrome: The LAI EARLY ACS Study.
The Journal of the Association of Physicians of IndiaBedaquiline-related QTc Prolongation in Multidrug Resistant Tuberculosis Patients: A Prospective Study.
The Journal of the Association of Physicians of IndiaFactors associated with single versus multiple supernumerary teeth in a paediatric population: a cross-sectional study.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryJuvenile Myasthenia Gravis: An Indian Perspective.
Neurology IndiaEfficacy and mechanisms underlying MRI-guided HD-tDCS combined with aerobic exercise to ameliorate cognitive impairment associated with schizophrenia.
Frontiers in psychiatryInflammatory Conditions in National Collegiate Athletic Association Women's Sports: 2009-2010 Through 2018-2019.
Journal of athletic trainingPost-partum haemophagocytic lymphohistiocytosis triggered by Staphylococcus aureus bacteraemia or teicoplanin therapy.
Obstetric medicineA randomized control trial comparing the clinical outcome of thyroxine supplementation in thyroid peroxide antibody- negative cases in patients with subclinical hypothyroidism in pregnancy.
Journal of family medicine and primary careBilateral tailoring, dorsal folding: A simple approach for short urethra and incompetent bladder neck in female patients.
Asian journal of urologyThe association between breastfeeding and prevalence of metabolic syndrome in women with a previous major pregnancy complication.
Frontiers in global women's health[Analysis of association between HIF-1α gene polymorphism and different syndromes of early cough variant asthma patients and their lung function].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Evidence mapping of clinical research on Chinese patent medicines for treating lung cancer in recent five years].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Construction and evaluation of an animal model of Alzheimer's disease with spleen-kidney deficiency and stagnant phlegm syndrome based on formula test].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaThe impact of the COVID-19 pandemic on sexual and reproductive health performance indicators at public health care facilities in Ekurhuleni Health District, South Africa: An interrupted time series analysis.
African journal of AIDS research : AJARA Survey on Real-World Transurethral Surgery Procedures for Bladder Pain Syndrome and Interstitial Cystitis.
Lower urinary tract symptomsNeurocardiac Autonomic Dysfunction in Patients With Post-COVID-19 Condition: A Systematic Review and Meta-Analysis.
European journal of neurologyClinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.
Taiwanese journal of obstetrics & gynecologyPediatric coronavirus disease 2019 clinical characteristics in a primary emergency medical center: Comparative analysis of BA.1/BA.2, BA.5/BQ.1, and XBB periods.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapyVentral Spinal Cord Displacement as a Cause of Thoracic Myelopathy: A Case Series of Nine Patients with Special Consideration of Magnetic Resonance Imaging Findings.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinDiscovery of MARK2 as a physiological kinase for PER2 in the mammalian clock.
Cell chemical biologySivelestat and Incidence of Acute Respiratory Distress Syndrome After Cardiovascular Surgery: A Randomized Clinical Trial.
JAMA network openA single-armed pilot study to evaluate a psychosocial intervention for young people who have experienced a burn injury: The Wellbeing Study.
Journal of burn care & research : official publication of the American Burn AssociationOptimal Deep Brain Stimulation Locations for Gilles de la Tourette Syndrome.
medRxiv : the preprint server for health sciencesSurveillance of Acute Respiratory Infections in Central India (2024-2025) Using Multiplex RT-PCR.
Infectious diseases & clinical microbiologyCompliance of Dermatology Screening Visits Among Patients With Skin Cancer-Predisposing Pathogenic Variants.
JEADV clinical practiceAssessing the associations between immunosuppressant use and COVID-19 severity in patients with autoimmune hepatitis.
World journal of hepatologyOpen-Angle Glaucoma Presenting as Delayed-Onset Interface Fluid Syndrome in a Patient With Minimal Risk Factors.
CureusPediatric-Onset Multiple Sclerosis at Age 10 Following Nephrotic Syndrome: Early Recognition and Successful Treatment With Fingolimod.
CureusDepressive Symptoms in Patients With SARS-CoV-2 and Acute Coronary Syndrome.
CureusSafety and effectiveness of diazepam nasal spray in patients with Rett syndrome and seizure clusters: post hoc analyses from a long-term safety study and survey of severity and burden.
Frontiers in neurologyGenome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
Movement disorders : official journal of the Movement Disorder SocietyOvulatory Recovery following weight loss in women with polycystic ovary syndrome and obesity: a post hoc analysis of the BAMBINI randomised controlled trial.
Human reproduction (Oxford, England)Modeling heart rate patterns to quantify neonatal opioid withdrawal syndrome.
Pediatric researchFeasibility of an adjunctive INtervention for Debilitating symptom complexes attributed to ticks (FIND): study protocol for a randomised, waitlist-controlled feasibility trial.
BMJ openEffect of COVID-19 pandemic on ART access and timely initiation in people living with HIV in 31 countries: a regression discontinuity design study.
BMJ openBeyond genetics: A rare case of childhood disintegrative disorder following psychosocial trauma.
Journal of pediatric nursingOptimal duration between drainage for obstructing renal or ureteral stones associated with infection and ureteroscopic lithotripsy: a randomized controlled trial.
World journal of urologyShiga Toxin-Producing Escherichia coli Outbreak in Canadian Daycare Centers.
JAMA network open[Long-term results of endovascular treatment of middle aortic syndrome in a child (clinical case)].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery[Accessory cervical rib as a cause of arterial thoracic outlet syndrome (clinical case)].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgeryPerinatal Transmission of Dengue Virus Type 2 in Northern Argentina: A Series of 6 Cases.
The Pediatric infectious disease journalDiagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.
Epilepsia openA Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.
Acta dermatovenerologica Croatica : ADCBannwarth Syndrome in a Patient With Early-Stage Breast Cancer: An Atypical Manifestation of Lyme Neuroborreliosis.
CureusFrom the Ocular Surface to Neurophysiology: An Integrative Review of Digital Eye Strain.
Clinical optometryWearable cardioverter-defibrillator in patients with non-ischaemic cardiomyopathy: a meta-analysis.
Heart (British Cardiac Society)Valvular Heart Disease during Pregnancy: Outcomes from a Large Integrated Healthcare System.
The American journal of cardiologyChanging Prevalence of Immunocompromising Conditions in Patients Hospitalized with Severe Acute Respiratory Infection in Europe: Insights from the COVIDRIVE Study.
Journal of epidemiology and global healthCorneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.
International ophthalmologySuicidality at Epilepsy Diagnosis and Future Treatment Resistance in Adults With Focal Epilepsy.
JAMA neurologyIs GDF15 or PGC-1α involved in 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-induced wasting syndrome? Evidence from a TCDD-sensitive and a TCDD-resistant rat strain.
Toxicology mechanisms and methods[Dynamics of lipid metabolism parameters following the change of targeted therapy for hypercholesterolemia after acute coronary syndrome].
Terapevticheskii arkhivClinical Features and Outcomes of Acute Myocarditis in Patients with Swab-Confirmed Respiratory Viral Pathogens.
The Israel Medical Association journal : IMAJA systematic review and meta-analysis of Zika virus epidemiology.
Nature healthThe effects of high-protein vs conventional protein enteral nutrition on intestinal permeability, severity of disease, and mortality in critically ill intensive care unit Patients: Protocol for a randomized controlled trial.
Contemporary clinical trials communicationsEfficacy and Safety of Chinese Medicine Eye Nebulization in the Treatment of Diabetic Retinopathy: Protocol for a Double-Blind, Randomized, Placebo-Controlled Trial.
Diabetes, metabolic syndrome and obesity : targets and therapyEvaluation of the Impact of Cordyceps cicadae Mycelium on Vision Health: A Cohort Study.
International journal of medical sciencesAnalysis of factors influencing weight regain after bariatric-metabolic surgery in obesity hypoventilation syndrome patients based on gastrointestinal peptide hormones.
Journal of medical biochemistryCase Report: Successful management of refractory SAPHO syndrome with guselkumab-upadacitinib combination.
Frontiers in immunologyOcular social jetlag: a driver of immune-metabolic dysfunction in dry eye disease.
Frontiers in immunologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome autoinflamatório de febre periódica-enterocolite da infância.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome autoinflamatório de febre periódica-enterocolite da infância
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
- Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
- Antiviral effect of cetylpyridinium chloride on SARS-CoV-2 in patients with COVID-19: An Observational Study.
- Respiratory syndromic disease study in Shanghai community population.
- Association between preoperative COVID-19 and major postoperative pulmonary complications: a multicentre observational cohort study in China.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:436166(Orphanet)
- OMIM OMIM:616050(OMIM)
- MONDO:0014472(MONDO)
- GARD:17725(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784838(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