Diabetes mellitus sindrômico raro, caracterizado por agenesia pancreática parcial, diabetes mellitus e anomalias cardíacas (incluindo transposição dos grandes vasos, defeitos do septo ventricular ou atrial, estenose pulmonar ou persistência do canal arterial).
Introdução
O que você precisa saber de cara
Diabetes mellitus sindrômico raro, caracterizado por agenesia pancreática parcial, diabetes mellitus e anomalias cardíacas (incluindo transposição dos grandes vasos, defeitos do septo ventricular ou atrial, estenose pulmonar ou persistência do canal arterial).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 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.
Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activati
Nucleus
Variantes genéticas (ClinVar)
175 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 47 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 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 hipoplasia pancreática-diabetes-cardiopatia congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita
Centros para Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a highly prevalent and progressive liver condition that is increasingly recognized for its systemic cardiometabolic impacts. MASLD increases the risk of cardiovascular and renal complications mainly through shared mechanisms, such as insulin resistance, low-grade inflammation, oxidative stress, atherogenic dyslipidemia, and a procoagulant state. Although these interrelated processes drive multisystem damage, MASLD remains often underdiagnosed in cardiology and nephrology settings and is excluded from the recently proposed framework for cardiovascular-kidney-metabolic (CKM) syndrome. Increasing recognition of the bidirectional interconnections between MASLD, cardiovascular disease, and chronic kidney disease suggests the need for an expanded cardiovascular-kidney-liver-metabolic (CKLM) model. Integrating MASLD into this framework supports earlier identification using non-invasive screening tools, encourages coordinated multidisciplinary care, and highlights the potential of pharmacotherapies, such as glucagon-like peptide-1 receptor agonists and sodium-glucose co-transporter 2 inhibitors, with cross-organ benefits. This review aims to reframe MASLD within this broader multisystem context and explore the implications of its integration into an expanded CKLM framework, with the goal of improving clinical outcomes and addressing multimorbidity.
Pathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.
Fowl adenoviruses (FAdVs) are important pathogens affecting poultry worldwide. Different serotypes cause distinct disease syndromes in domestic chickens, including gizzard erosions (GE), inclusion body hepatitis (IBH), and hepatitis-hydropericardium syndrome (HHS). Despite the economic impact, the evaluation of pathogenicity and genomic features of Brazilian isolates has not yet been assessed. This study aimed to investigate the pathogenic characteristics and whole-genome features of two FAdV Brazilian isolates, BRMSA3762 (FAdV-1) and BRMSA3761 (FAdV-11). For this, pathogenicity was evaluated through inoculation of day-old specific-pathogen-free chickens and embryos. Infected birds were macroscopically and histologically examined in trachea, heart, proventriculus, gizzard, liver, pancreas, duodenum, kidney, and bursa of Fabricius. Also, we analyzed viral distribution in tissues and cloacal virus shedding through real-time PCR. Furthermore, whole-genome sequencing enabled phylogenetic reconstruction and recombination analyses. Results revealed that FAdV-1 was pathogenic, causing severe erosions in the gizzard and a slight alteration in the heart tissue, while FAdV-11 exhibited higher virulence and affected several tissues, including pancreas, liver, gizzard, bursa, and heart. Both viruses were detected in all tissues 8 days post-inoculation, and viral excretion through cloaca occurred throughout the entire experimental period. Differences were established in viral titers, with FAdV-11 demonstrating a higher viral load in tissues and cloacal shedding. In addition, both isolates demonstrated to be pathogenic in SPF chicken embryos. Genomic analysis revealed that BRMSA3762 clustered with sequences from other countries in the Americas, showing no evidence of recombination. Surprisingly, BRMSA3761 clustered with sequences isolated in Europe and the Middle East and was identified as a putative recombinant showing a genetic arrangement closely related to Iranian and Lebanese sequences. Collectively, our findings provide important insights into the pathogenicity of Brazilian fowl adenovirus isolates and contribute to the current understanding of their genetic diversity.
International Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG.
This international, multidisciplinary consensus report represents the first effort to systematically define and characterize fatty pancreas. A key outcome of this endeavor was the recommendation to adopt "fatty pancreas" as the standardized and inclusive term to describe all forms of fat accumulation in the pancreas. This terminological consensus provides a critical foundation for unified reporting and clinical communication. Another major contribution of the report is the consensus on diagnostic imaging findings, which was based on radiological and endoscopic modalities. The proposed criteria aim to enhance consistency in clinical assessment and support the development of standardized research protocols. In addition to establishing terminology and diagnostic frameworks, the report also synthesizes current knowledge across a wide range of relevant domains. These include the etiology and epidemiology of fatty pancreas, as well as its associations with alcohol consumption, smoking, acute and chronic pancreatitis, pancreatic exocrine insufficiency, type 2 diabetes mellitus, and surgical outcomes. The potential links between fatty pancreas and neoplastic conditions such as intraductal papillary mucinous neoplasms and pancreatic cancer are also addressed, alongside the current understanding of its metabolic implications (beta-cell function and glucose homeostasis) and treatment strategies. Throughout the consensus process, a consistent theme emerged: the limited availability of high-quality, prospective clinical data. Therefore, many of the recommendations in this report are based on expert consensus rather than strong empirical evidence. As such, the statements require rigorous prospective validation before they can be adopted into routine clinical practice. This underscores a critical need for further research, particularly studies aimed at clarifying causal relationships, validating diagnostic tools, and determining the clinical relevance of fatty pancreas across diverse patient populations. This report serves as both a summary of our current understanding and a roadmap for future investigations, aiming to close existing knowledge gaps and guide evidence-based clinical practice in this emerging field.
Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro-Oxidative and Pro-Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction.
Extracellular vesicles (EV) are emerging regulators of metabolic homeostasis through their bioactive cargo. This study first investigated the lipidomic profile and functional effects of plasma EV derived from adiponectin-knockout (KO) mice to identify EV-associated lipid signatures linked to metabolic dysfunction. Lipidomic profiling revealed that KO EV were enriched in sphingolipids and polyunsaturated phospholipids compared to wild-type (WT) EV. To evaluate functional consequences, recipient cell assays were conducted using macrophages, skeletal muscle cells, and pancreatic beta cells. KO EV showed an increased uptake in RAW 264.7 macrophages and induced elevated reactive oxygen species (ROS) and activation of NF-κB and IRF inflammatory pathways. In L6 skeletal muscle cells, WT EV increased ATP production, while KO EV failed to elicit this effect. Furthermore, KO EV impaired glucose-stimulated insulin secretion in INS-1 pancreatic beta cells. These findings suggested that altered lipid composition in EV from KO mice contributes to oxidative stress, inflammation, and impaired metabolic regulation in recipient cells. Next, translational relevance was established by documenting that plasma EV from patients with metabolic syndrome exhibited lipidomic remodeling features in parallel to the murine KO phenotype, in particular enriched PUFA-containing lipids. Together, these findings identify a conserved adiponectin-EV lipid composition axis regulating oxidative stress, inflammation, and impaired metabolic regulation. The new knowledge presented in this study has implications for biomarker discovery and therapeutic targeting in metabolic disease.
Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.
Previous studies have shown an increased prevalence of eosinophilic gastrointestinal disease (EGID) in pediatric liver and heart transplant recipients. However, EGID after other solid organ and bone marrow transplantations has not been extensively evaluated. The purpose of this study is to determine relationships between subsets of EGID with different solid organ and bone marrow transplants in pediatric patients. We performed a single-center retrospective chart review of pediatric patients with transplant and EGID between 2007 and 2023. For comparison between transplant groups, ANOVA was used for statistical analysis of continuous variables, and Fisher's exact test was used for categorical variables. There were 30 patients with EGID (eosinophilic esophagitis [EoE] = 21; eosinophilic gastritis [EoG] = 4; EoE + EoG = 3; EoE + eosinophilic colitis [EoC] = 1; eosinophilic duodenitis [EoD] = 1) and history of transplant (liver = 15; heart = 9; bone marrow = 3; multivisceral liver + small bowel + pancreas = 2; kidney = 1). When comparing the transplant groups, there was a significant difference in EoE + EoG incidence (p = 0.011), specifically, EoE + EoG was present in 2 (100%) multivisceral and in 1/15 (7%) liver transplant patients. A statistically significant difference in the presence of gastroesophageal reflux (GER) and oral allergy syndrome between groups was noted (p = 0.036, p = 0.033). There was no significant difference in the symptoms leading to EGID work-up: incidence; morphologic features; achievement of histologic remission; medications; or family history of atopy between groups. This retrospective biopsy-confirmed cohort demonstrates that EGID subtype varies by transplant type, with higher rates of EoE + EoG in multivisceral recipients. Findings are exploratory and hypothesis-generating; larger multicenter studies including more non-liver and non-heart transplant patients are needed.
Publicações recentes
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📚 EuropePMCmostrando 199
MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
Science China. Life sciencesPathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.
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International journal of molecular sciencesIdentification of Pancreatic Neuroendocrine Tumor During Evaluation for Severe Valvulopathy in a Patient With a History of Lung Carcinoid Tumor: A Case Report.
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Renal failure[Clinical data analysis of 117 patients with ruptured abdominal aortic aneurysm].
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European review for medical and pharmacological sciencesCase Report: Acute cerebral infarction as the initial manifestation of malignant tumors with trousseau syndrome in the elderly.
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Pharmacology & therapeuticsMajor Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database.
Journal of Korean medical scienceExperimental study on physical exercise in diabetes: pathophysiology and therapeutic effects.
European journal of translational myologyLongitudinal Outcomes Associated With Metabolic Dysfunction-Associated Steatotic Liver Disease: A Meta-analysis of 129 Studies.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationIs neuropilin-1 the neuroimmune initiator of multi-system hyperinflammation in COVID-19?
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieMetastatic well differentiated serotonin-producing pancreatic neuroendocrine tumor with carcinoid heart disease: a case report.
Journal of gastrointestinal oncologyInfluence of intermittent fasting on autophagy in the liver.
Bioscience trendsConstruction and validation of machine learning models for sepsis prediction in patients with acute pancreatitis.
BMC surgeryIntercellular cross-talk through lineage-specific gap junction of cancer-associated fibroblasts related to stromal fibrosis and prognosis.
Scientific reportsUrinary 5-Hydroxyindolacetic Acid Measurements in Patients with Neuroendocrine Tumor-Related Carcinoid Syndrome: State of the Art.
CancersInsights Into Clinical Outcomes of Acute Pancreatitis With Concomitant Acute Myocardial Infarction Using the National Inpatient Sample Database.
The American journal of cardiologyEpidemiology of small intestinal bacterial overgrowth.
World journal of gastroenterologyChronic Pancreatitis and Risk of Atherosclerotic Cardiovascular Disease: A US Cohort Propensity-Matched Study.
PancreasThe Role of Extracellular Heat Shock Proteins in Cardiovascular Diseases.
Biomedicines[Connotation of distal bleeding based on modern pathophysiological mechanism and application of Huangtu Decoction for acute coronary syndrome complicated with acute upper gastrointestinal hemorrhage in critical care medicine].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaSevere Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options.
MetabolitesThe critical role of pancreatic stone protein/regenerating protein in sepsis-related multiorgan failure.
Frontiers in medicineLong-term post-acute sequelae of COVID-19 infection: a retrospective, multi-database cohort study in Hong Kong and the UK.
EClinicalMedicineQT prolongation, torsades des pointes, and cardiac arrest after 4 mg of IV ondansetron.
The American journal of emergency medicineAssociations of cholecystectomy with the risk of colorectal cancer: a Mendelian randomization study.
Chinese medical journal[Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023)].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesDiagnosis and management of neuroendocrine tumours.
Clinical medicine (London, England)Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Nature medicineTargeting Epigenetic Changes Mediated by Members of the SMYD Family of Lysine Methyltransferases.
Molecules (Basel, Switzerland)Gastrointestinal Consequences of Type 2 Diabetes Mellitus and Impaired Glycemic Homeostasis: A Mendelian Randomization Study.
Diabetes careNo evidence for the benefit of PPIs in the treatment of acute pancreatitis: a systematic review and meta-analysis.
Scientific reportsC-terminal agrin fragment as a biomarker of muscle wasting and weakness: a narrative review.
Journal of cachexia, sarcopenia and muscleCase Report: COVID-19 with cytokine storm in a 16-year-old patient: if heart failures comes think about levosimendan.
F1000ResearchAssociation of obesity and cardiovascular disease and progress in pharmacotherapy: what is next for obesity?
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptationSmoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.
eLifeThe effect of anemia on the severity and prognosis of patients with acute pancreatitis: A single-center retrospective study.
MedicineAcute Pancreatitis and Myocardial Infarction: A Narrative Review.
CardiologyThe relationship between chronic immune response and neurodegenerative damage in long COVID-19.
Frontiers in immunologyPolysplenia syndrome revealed in adulthood by pancreatic and vascular malformations: a case report.
The Pan African medical journalAnti-Inflammatory Activation of Phellodendri Chinensis Cortex is Mediated by Berberine Erythrocytes Self-Assembly Targeted Delivery System.
Drug design, development and therapyHETEROTAXY SYNDROME IN COVID-19 PATIENT WITH PULMONARY EMBOLISM AND AORTIC ANEURYSM: A RARE ACCIDENTAL COMBINATION (RADIOLOGICAL ASSESSMENT).
Problemy radiatsiinoi medytsyny ta radiobiolohiiPotential use of the S-protein-Angiotensin converting enzyme 2 binding pathway in the treatment of coronavirus disease 2019.
Frontiers in public healthRecent Developments in Islet Biology: A Review With Patient Perspectives.
Canadian journal of diabetes[Hypertriglyceridemic pancreatitis and cardiac tamponade in a 26-year-old woman].
Innere Medizin (Heidelberg, Germany)Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report.
BMC cardiovascular disordersNovel Classification of Thrombotic Disorders Based on Molecular Hemostasis and Thrombogenesis Producing Primary and Secondary Phenotypes of Thrombosis.
BiomedicinesThe combination of ulinastatin and somatostatin reduces complication rates in acute pancreatitis: a systematic review and meta-analysis of randomized controlled trials.
Scientific reportsFerroptosis and its emerging roles in acute pancreatitis.
Chinese medical journalPearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Orphanet journal of rare diseasesPancreatic cancer with multiple liver metastasis complicating multi-organ infarcts from marantic endocarditis and Trousseau's syndrome.
Clinical medicine (London, England)A Case of Primary Insular Ovarian Carcinoid Tumor with Hyperandrogenism and Carcinoid Heart Disease.
The American journal of case reportsEffectiveness and safety of fibrinolytic therapy in critically ill patients with COVID-19 with ARDS: protocol for a prospective meta-analysis.
BMJ openAMPK: The key to ischemia-reperfusion injury.
Journal of cellular physiologyInteraction between Sars-CoV-2 structural proteins and host cellular receptors: From basic mechanisms to clinical perspectives.
Advances in protein chemistry and structural biologyA randomized, double-blind, crossover study of the effect of the fluoroquinolone moxifloxacin on glucose levels and insulin sensitivity in young men and women.
Diabetes, obesity & metabolismSepsEast Registry indicates high mortality associated with COVID-19 caused acute respiratory failure in Central-Eastern European intensive care units.
Scientific reportsHeart Failure and Pancreas Exocrine Insufficiency: Pathophysiological Mechanisms and Clinical Point of View.
Journal of clinical medicineChanges in the Incidence Rates of Gastrointestinal Diseases Due to the COVID-19 Pandemic in South Korea: A Long-Term Perspective.
Journal of personalized medicineOrgan-Specific Glucose Uptake: Does Sex Matter?
CellsAppraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.
EBioMedicineCase report: hypoglycemia secondary to methimazole-induced insulin autoimmune syndrome in young Taiwanese woman with Graves' disease.
MedicineB cell-derived cfDNA after primary BNT162b2 mRNA vaccination anticipates memory B cells and SARS-CoV-2 neutralizing antibodies.
Med (New York, N.Y.)New-onset COVID-19-related diabetes: an early indicator of multi-organ injury and mortally of SARS-CoV-2 infection.
Current medicine (Cham, Switzerland)Development and external validation of models to predict acute respiratory distress syndrome related to severe acute pancreatitis.
World journal of gastroenterologyIslet Biology During COVID-19: Progress and Perspectives.
Canadian journal of diabetesMitral valvuloplasty with left atrial appendage closure and pacemaker implantation in a dog with severe myxomatous mitral valve degeneration: a case report.
BMC veterinary researchParacrine Role of the Endothelium in Metabolic Homeostasis in Health and Nutrient Excess.
Frontiers in cardiovascular medicineImmature granulocytes: Innovative biomarker for SARS‑CoV‑2 infection.
Molecular medicine reportsEffect of red beetroot juice on oxidative status and islet insulin release in adult male rats.
Diabetology & metabolic syndromeAcute Neurological Manifestations of COVID-19 Patients From Three Tertiary Care Hospitals in Qatar.
CureusPancreaticoduodenectomy in a Patient With Marfan Syndrome.
PancreasUnderstanding the molecular basis of anorexia and tissue wasting in cancer cachexia.
Experimental & molecular medicineSolid Organ Transplantation in SARS-CoV-2 Recovered Transplant Candidates: a Comprehensive Review of Recent Literature.
Current transplantation reportsWorsening Postural Tachycardia Syndrome Is Associated With Increased Glucose-Dependent Insulinotropic Polypeptide Secretion.
Hypertension (Dallas, Tex. : 1979)Adenocarcinoma of the Gastroesophageal Junction Masquerading as Mallory-Weiss Syndrome.
Case reports in gastroenterologyProtein expression of transmembrane protease serine 4 in the gastrointestinal tract and in healthy, cancer, and SARS‑CoV‑2 infected lungs.
Molecular medicine reportsElevation in creatine kinase isoenzyme-MM associated with hepatocellular carcinoma: a case report and review of literature.
Clinical journal of gastroenterologyLipoprotein profile of pleural and peritoneal transudates in dogs and cats.
Journal of veterinary internal medicineIs NMDA-Receptor-Mediated Oxidative Stress in Mitochondria of Peripheral Tissues the Essential Factor in the Pathogenesis of Hepatic Encephalopathy?
Journal of clinical medicinePhysiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.
Advances in experimental medicine and biologyClinical and genetic features of four patients with Pearson syndrome: An observational study.
MedicineCholangitis secondary to obstructive choledocholithiases in an elderly woman with heterotaxy syndrome with polysplenia: report of a case and brief review of the literature.
Clinical journal of gastroenterologyGLP-1a: Going beyond Traditional Use.
International journal of molecular sciencesSolid Organ Transplantation From SARS-CoV-2-infected Donors to Uninfected Recipients: A Single-center Experience.
Transplantation directCase Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.
Frontiers in endocrinologyMultiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]Multimodality imaging of developmental splenic anomalies: tips and pitfalls.
Clinical radiologyCelebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.
Acta physiologica (Oxford, England)Postmortem findings in COVID-19 fatalities: A systematic review of current evidence.
Legal medicine (Tokyo, Japan)Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.
Journal of clinical lipidologyVerification of the Impact of Blood Glucose Level on Liver Carcinogenesis and the Efficacy of a Dietary Intervention in a Spontaneous Metabolic Syndrome Model.
International journal of molecular sciencesPediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Molecular genetics and metabolismLECT-2 amyloidosis: what do we know?
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchAssociações
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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.
- MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
- Pathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.
- International Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG.
- Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro-Oxidative and Pro-Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction.
- Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.JGH open : an open access journal of gastroenterology and hepatology· 2026· PMID 41602586mais citado
- Complications of lipodystrophy syndromes.
- Differential diagnosis of the association of gastrointestinal symptoms and ST segment elevation, in the absence of chest pain.
- Development of a severe mesenteric traction syndrome during major abdominal surgery is associated with increased postoperative morbidity: Secondary data analysis on prospective cohorts.
- Disease Associated Mutations in K(IR) Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.
- Clinical Outcome of Extraanatomic Bypass for Midaortic Syndrome Caused by Takayasu Arteritis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2255(Orphanet)
- OMIM OMIM:600001(OMIM)
- MONDO:0010802(MONDO)
- GARD:347(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q11902953(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
