Introdução
O que você precisa saber de cara
Microtia é uma deformidade congênita onde a aurícula é subdesenvolvida. Uma aurícula completamente subdesenvolvida é referida como anotia. Como microtia e anotia têm a mesma origem, pode ser referida como microtia-anotia. Microtia pode ser unilateral ou bilateral. Microtia ocorre em 1 a cada aproximadamente 8.000 a 10.000 nascimentos. Na microtia unilateral, a orelha direita é a mais comumente afetada.
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
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 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.
Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins
Cytoplasm, P-bodyNucleus
Holoprosencephaly 12 with or without pancreatic agenesis
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. HPE12 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
223 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 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 agenesia pancreática-holoprosencefalia
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
Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
The role of adjuvant programmed cell death-1 (PD-1) inhibitors following curative hepatectomy in patients with hepatocellular carcinoma (HCC) at high risk of recurrence remains controversial. This study aims to evaluate the efficacy and safety of camrelizumab (a PD-1 inhibitor) as adjuvant therapy in these patients. This retrospective, single-arm study conducted across eight medical centers from April 2019 to January 2024 enrolled 82 HCC patients at high-risk recurrence, who received camrelizumab (200 mg) as monotherapy or in combination with tyrosine kinase inhibitors (TKIs). The primary endpoint was recurrence-free survival (RFS), while secondary endpoints included overall survival (OS) and adverse events. Propensity score matching (PSM) was utilized to adjust for potential confounders. The median follow-up duration was 27.0 months (interquartile range: 21.6-44.5). The median RFS was 28.7 months (95% confidence interval: 18.1-39.3), and the corresponding RFS rates at 12, 24, and 36 months were 68.3, 57.9, and 46.7, respectively. The median OS was not reached, with OS rates at 12, 24, and 36 months being 92.7, 90.0, and 82.1%, respectively. Among the patients, 56 received camrelizumab in combination with TKIs, while 26 received camrelizumab alone. Compared with monotherapy, combination therapy demonstrated no significant advantages in either RFS or OS. Similar results were obtained after PSM. Among all patients, the most common grade 3 or 4 adverse events were reactive cutaneous capillary endothelial proliferation (9.8%), hand-foot syndrome (4.9%), and hypertension (4.9%). Adjuvant camrelizumab may improve the prognosis of patients with HCC at high risk of recurrence after curative hepatectomy. Combination therapy with TKIs may be unnecessary.
Efficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Olezarsen has shown efficacy in hypertriglyceridemic and dyslipidemic populations of mixed cohorts, but its effectiveness in severe hypertriglyceridemia(SHTG) is unknown. This is a systematic review and meta-analysis to evaluate the efficacy of olezarsen in SHTG and the associated risk of pancreatitis. PubMed, Embase, and Cochrane databases were systematically searched for published trials comparing olezarsen vs placebo in SHTG patients up to December 03, 2025. We computed mean difference (MD) and risk ratio (RR) with 95% CI for continuous and binary endpoints, respectively, using a random-effects model. Significance level was set with P-value (< 0.05). From 228 database records, three randomized trials involving 1127 patients were included, with a 12-month follow-up. Of these, 748 patients (66.3%) received olezarsen. Olezarsen significantly reduced the mean percentage change from baseline of triglyceride (TG) levels, especially for the non-familial chylomicronemia syndrome(non-FCS) population (MD = - 59.95%; 95% CI - 76.00 to - 43.90; P = .001), of apolipoprotein C-III levels (MD = - 66.68%; 95% CI - 80.86 to - 52.69; P = .0006) at 6 months compared to placebo, albeit with significant heterogeneity. Significant reductions were also observed for other lipid parameters, specifically Non-high-density lipoprotein cholesterol (non-HDL-C) (MD = - 23.72%; 95% CI: - 27.35, - 20.09; P = .00001) and Remnant cholesterol(RC) (MD = - 55.30%;95% CI: - 62.05, -48.56; P = .00001) with an increase in LDL level. Olezarsen reduced the risk of acute pancreatitis (1.2% vs 8.7%; RR = 0.14; 95% CI: 0.07, 0.29; P = .00001) compared to placebo. No significant adverse events were observed between groups. Our analysis suggests olezarsen may be an effective therapeutic option in SHTG for reducing lipids and acute pancreatitis risk. However, its long-term safety and efficacy remain to be explored in future trials in this cohort.
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.
Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency and neutropenia. While most cases are linked to mutations in the SBDS gene, some involve mutations in the GTPase EFL1. This protein works with SBDS to release the anti-association factor eIF6 from the 60S ribosomal subunit during ribosome biogenesis. The pathogenic EFL1 R1095Q mutant (R1086Q in yeast) exhibits altered guanine nucleotide recognition and impaired eIF6 release, prompting an investigation into its structural consequences. Using the yeast Efl1 orthologue in X-ray hydroxyl radical footprinting experiments, we tracked changes in solvent accessibility caused by the mutation. Although the mutation is situated in domain IV, widespread conformational changes were observed across the protein, particularly in domain I, suggesting a long-range intramolecular communication. Strikingly, the growth defect caused by the pathogenic mutation was rescued by a second mutation located in a allosteric pathway that spans from the nucleotide-binding pocket to domain IV. This compensatory mutation restored proper nuclear localization of eIF6 (Tif6 in yeast). These findings reveal that the R1086Q mutation disrupts a structural communication network within Efl1, impairing the conformational dynamics required for its activity. The loss of this coordination likely underlies the ribosome maturation defects observed in SDS cases linked to EFL1, offering new insights into the molecular basis of the disease.
[Clinical Manifestations of Childhood Systemic Lupus Erythematosus-associated Acute Pancreatitis and Evaluation of the Efficacy of Plasma Exchange Combined With Glucocorticoids].
To summarize and analyze the clinical manifestations of acute pancreatitis associated with childhood systemic lupus erythematosus (cSLE) and to evaluate the therapeutic efficacy of plasma exchange combined with glucocorticoids. This retrospective study analyzed clinical data from cSLE patients diagnosed and treated at West China Second University Hospital from January 2018 to December 2020. Patients were divided into a pancreatitis group (diagnosed with cSLE-associated acute pancreatitis) and a non-pancreatitis group (without this diagnosis), and differences between groups were compared. Among 170 cSLE patients enrolled, 9 were in the pancreatitis group and 161 were in the non-pancreatitis group. The median SLEDAI score was 24.0 (P25-P75: 20.5-29.0) in the pancreatitis group and 18.0 (P25-P75: 14.0-20.0) in the non-pancreatitis group, with a statistically significant difference (P < 0.05). The incidence rates of abdominal pain, vomiting, abdominal distension, diarrhea, acute pericarditis, and macrophage activation syndrome were higher in the pancreatitis group than in the non-pancreatitis group, with statistically significant differences (P < 0.05). Differences in C-reactive protein, hemoglobin, blood urea nitrogen, serum albumin, serum amylase, serum lipase, and lipid levels between the two groups were also statistically significant (P < 0.05). Multivariate logistic regression analysis indicated that each 1-point increase in SLEDAI score was associated with a 37.5% higher risk of developing pancreatitis (OR 1.375, 95% CI 1.121-1.686, P =0.002). All children in the pancreatitis group received high-dose glucocorticoids combined with multiple plasma exchanges, followed by immunosuppressive therapy. Nine patients achieved remission from acute pancreatitis within two weeks of treatment. Two patients died within 30 days, but the cause of death was unrelated to acute pancreatitis. Acute pancreatitis is a rare but severe complication of cSLE, with higher SLEDAI scores correlating with increased risk of pancreatitis. Early diagnosis and aggressive treatment with glucocorticoids combined with plasma exchange may be associated with improved short-term outcomes. 总结分析儿童系统性红斑狼疮（childhood systemic lupus erythematosus, cSLE）相关急性胰腺炎的临床表现特征，并评估血浆置换联合糖皮质激素对其的治疗效果。 回顾性分析2018年1月至2020年12月在华西第二医院诊断并治疗的cSLE患者的临床资料，根据其是否诊断为cSLE相关急性胰腺炎分为胰腺炎组和非胰腺炎组，并比较两组间的差异。 在收治的170例cSLE患者中，胰腺炎组9例，非胰腺炎组161例。胰腺炎组SLEDAI 评分中位数为24.00（P25～P75: 20.50～29.00），非胰腺炎组为 18.00（P25～P75: 14.00～20.00），两组之间差异有统计学意义（P<0.05）。胰腺炎组腹痛、呕吐、腹胀、腹泻、急性心包炎和巨噬细胞活化综合征的发生比例高于非胰腺炎组，差异有统计学意义（P<0.05）。两组间C反应蛋白、血红蛋白、尿素氮、血清白蛋白、血淀粉酶、血脂肪酶、血脂水平的差异具有统计学意义（P<0.05）。多因素logistic回归分析表明SLEDAI评分每增加1分，患胰腺炎的风险增加37.5%(OR 1.375, 95%CI 1.121~1.686, P=0.002)。胰腺炎组患儿均接受大剂量糖皮质激素联合多次血浆置换治疗，后续使用免疫抑制剂。9例患者在治疗两周后实现急性胰腺炎的缓解，有2例患者在30 d内死亡，但死亡原因与急性胰腺炎无关。 急性胰腺炎是cSLE罕见但严重的并发症，SLEDAI评分越高，患胰腺炎的风险越大。早期诊断及积极应用糖皮质激素联合血浆置换治疗可能与更好的短期预后相关。
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The Journal of clinical endocrinology and metabolismToward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.
Journal of gastroenterology and hepatologyInternational 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.
United European gastroenterology journalTumor-immune-neural circuit disrupts energy homeostasis in cancer cachexia.
Cancer cellThe PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.
Pharmacological reports : PRHog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth.
bioRxiv : the preprint server for biologyA delayed diagnosis of familial chylomicronemia syndrome in an elderly patient: Clinical implications of late-onset disease.
Journal of clinical lipidologySevere abdominal adverse events following open abdomen: a multicenter retrospective observational study.
International journal of surgery (London, England)Surgical approaches for complex hepatic and perihepatic tumors: a single-center experience with ante situm and ex situ techniques.
International journal of surgery (London, England)Outcomes of highly urgent living donor liver transplantation in Korean national data.
Hepatobiliary surgery and nutritionLaparoscopic approach reduces the incidence of postoperative pulmonary complications after hepatectomy for hepatocellular carcinoma: a multicenter overlap propensity score-weighted analysis.
Hepatobiliary surgery and nutrition2025: The year in cardiovascular disease - the year of triglyceride lowering therapies. Can we effectively reduce triglyceride-related residual cardiovascular disease and pancreatitis risk?
Archives of medical science : AMSSuccessful management of acute intraoperative hyperkalemia during huge liver cancer resection following neoadjuvant chemotherapy: a case report.
AME case reportsProspective observational study on the impact of hepatic steatosis, hepatic fibrosis, and metabolic syndrome on the outcome of patients with acute pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]Discrepancies in β-adrenergic receptor signaling and cAMP pathway in high-fat simple carbohydrate diet-fed C57BL/6J mice: implications for metabolic syndrome pathophysiology.
Journal of receptor and signal transduction researchFrom Diagnosis, Therapy Decision-Making to Genetic Risk Assessment: The Impact of ctDNA Testing on Comprehensive Cancer Management-A Case Report.
Journal of the National Comprehensive Cancer Network : JNCCNActinomycotic Cholecystitis and Pancreatitis: Report of an Unusual Case.
The American journal of case reportsUpdates on intestinal failure management.
Expert review of gastroenterology & hepatologyPartitioned polygenic scores show mechanistic heterogeneity in type 2 diabetes and hypertension comorbidity.
Nature communicationsOlezarsen and Beyond: Emerging Targeted Treatments for Familial Chylomicronemia Syndrome and Related Triglyceride Disorders.
Journal of lipid and atherosclerosisExplainable machine learning model to predict refeeding syndrome in patients with severe acute pancreatitis.
Frontiers in nutritionSevere Vascular and Ductal Complications of a Pancreatic Pseudocyst: A Case of Hemorrhage, Superior Mesenteric Vein (SMV) Compression, Duct Disconnection, and Portal Vein Thrombosis.
CureusIncidence and predictors of acute respiratory distress syndrome in sepsis: a systematic review and meta-analysis.
Frontiers in medicineLipidomic 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.
Journal of extracellular vesiclesLiver Transplantation From a Recently Transplanted Multiorgan Patient: a Case Report.
Transplantation proceedingsChitosan and polyacrylic acid engineered AlFeO3 validated degradation of rhodamine B and resistant Pseudomonas aeruginosa of epizootic ulcerative syndrome in Ctenopharyngodon idella with mechanistic insights.
International journal of biological macromoleculesTargeting GLP1 receptor for reducing global cardiovascular risk.
Journal of translational medicine17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?
ESMO gastrointestinal oncologyChallenging the extended phenotype: HRD-negative salivary gland carcinoma in a BRCA1 founder-variant carrier, case report and literature review.
Frontiers in oncologyPropofol-related biological alterations and incidence of propofol infusion syndrome in status epilepticus: a 10-year cohort study.
Frontiers in neurologyGastroenteropancreatic neuroendocrine neoplasms in children and adults: a comparative review.
Frontiers in endocrinologyDevelopment of a registry to evaluate immobilized lipase cartridge use in pediatric patients with short bowel syndrome/intestinal failure.
Intestinal Failure (New York, N.Y.)Exploring the role of pancreatic enzyme replacement therapy in patients with short bowel syndrome: Nutritional and Anthropometric Outcomes.
Intestinal Failure (New York, N.Y.)Coronary Artery Calcium Score Is Associated with Steatotic Liver Disease, Fatty Pancreas, and Benign Pancreaticobiliary Disorders, Independent of Metabolic Syndrome.
Metabolic syndrome and related disordersSurgical and Oncologic Outcomes After Pancreatectomy for Pancreatic Neuroendocrine Tumor in Multiple Endocrine Neoplasia Type 1 and von Hippel-Lindau Syndrome: A Large, Multi-Institutional, Cohort Study.
Journal of the American College of SurgeonsAnaplastic Thyroid Carcinoma With Horner Syndrome and Unusual Metastasis Reveals Masked Papillary Thyroid Carcinoma Following Neoadjuvant Therapy.
AACE endocrinology and diabetesAshwagandha (Withania somnifera) in insulin resistance and metabolic syndrome: A literature review on mechanisms.
Iranian journal of basic medical sciencesThree Interesting Cases of Hypoglycemia: A Case Series.
CureusGlucose-to-albumin ratio predicts short-term mortality in critically ill patients with acute pancreatitis.
Scientific reportsEctopic ACTH production from oesophageal neuroendocrine carcinoma causing Cushing syndrome.
BMJ case reportsSRP54-related congenital neutropenia: a multidisciplinary effort.
BMJ case reportsGlobal trends and forecasts of nonalcoholic steatohepatitis causing liver cancer incidence and deaths.
Frontiers in oncologyHomozygous variant in LMF-1 identified in 3 Colombian families.
Journal of clinical lipidologyAn Unprecedented Triad: Simultaneous Acute Pancreatitis, Axonal Polyneuropathy, and Type 1 Diabetes Mellitus in a Catastrophic Juvenile Lupus Flare.
Clinical case reportsProne position ventilation in severe acute pancreatitis patients with concurrent acute respiratory distress syndrome and abdominal compartment syndrome: a case report.
World journal of emergency medicineWarm Autoimmune Hemolytic Anemia Associated with Pancreatic Adenocarcinoma Showing Ectopic Expression of Band 3 Protein: A Case Report.
Internal medicine (Tokyo, Japan)Paraneoplastic dermatomyositis with atypical features associated with a solid pseudopapillary pancreatic neoplasm.
Clinical rheumatologyImmunohistochemical and Genetic Evidence of Lynch Syndrome-Related Well-Differentiated Pancreatic Neuroendocrine Tumor in Association with Peliosis of the Non-Tumorous Islets and Ductulo-Insular Complexes: An Expansion of Endocrine Manifestations of Lynch Syndrome.
Endocrine pathologyThe Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management.
Current issues in molecular biologyMechanistic Insights into Antioxidant Interventions Targeting Obesity-Induced Oxidative Stress in the Pathogenesis and Complications of Type 2 Diabetes Mellitus.
Current issues in molecular biologyRarity of Acute Pancreatitis as an Initial Presentation of Lung Carcinoma.
Case reports in surgeryInflammation mediates the association between the Prognosis Nutrition Index (PNI) and mortality in acute pancreatitis: evidence from international cohorts.
Frontiers in immunology[Diagnosis and prevention of sarcopenic obesity should be emphasized].
Zhonghua yi xue za zhiOutcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Molecular genetics and metabolismPancreatic Mucinous Cystic Neoplasms Following GLP-1 Receptor Agonists Use: A Report of Two Cases with Literature Review.
Journal of gastrointestinal cancerSustained 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 digestivasAcute pancreatitis associated with periampullary hamartomatous polyp in Peutz-Jeghers syndrome.
Revista espanola de enfermedades digestivasBeyond sensitivity and specificity: Redefining the era connotation of "low-risk" in pancreatic cancer screening.
World journal of clinical oncologyRabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.
World journal of diabetesRole of endoscopic ultrasound in the treatment of pancreatic neuroendocrine tumors: Lights and shadows of endoscopic ultrasound-guided radiofrequency ablation.
World journal of gastrointestinal endoscopyCutaneous paraneoplastic syndromes in cats: a comparative clinical review.
Journal of feline medicine and surgeryEosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.
JGH open : an open access journal of gastroenterology and hepatologyDysregulated autophagy at the nexus of type 2 diabetes mellitus and pancreatic cancer pathogenesis.
Frontiers in endocrinologyMetabolic Syndrome Components and Cancer Risk in Normal-Weight Subjects: Systematic Review and Meta-Analysis in over 18 Million Individuals.
Journal of clinical medicineComparison of the Clinical Course, Management and Outcomes of Acute Pancreatitis in Aged and Young Patients.
BiomedicinesCILP2: From ECM Component to a Pleiotropic Modulator in Metabolic Dysfunction, Cancer, and Beyond.
BiomoleculesFiber-type vulnerability and proteostasis reprogramming in skeletal muscle during pancreatic cancer cachexia.
JCI insight[Pathology of the digestive system organs in post-COVID syndrome according to autopsy data from 2021-2024].
Arkhiv patologii[Blunt combined abdominal injuries in children].
KhirurgiiaComparative Evaluation of the Prognostic Accuracy of IL-6 and Angiopoietin-2 for Early Severity Assessment in Acute Pancreatitis: A Systematic Review.
Diseases (Basel, Switzerland)Unmasking an insulinoma: recurrent Hypoglycemia in a young patient following GLP-1 receptor agonist therapy -A case report.
Oxford medical case reportsPolysplenia syndrome with semi-annular pancreas, midgut malrotation and interrupted inferior vena cava: A rare adult case report.
Radiology case reportsPancreatic cancer risk and survival in patients with Lynch syndrome: a nationwide Dutch cohort study.
EClinicalMedicineEfficacy and safety of indwelling double-pigtail stents after endoscopic necrosectomy in patients with necrotizing pancreatitis complicated with disconnected pancreatic duct syndrome: A follow-up study.
Endoscopic ultrasoundThe Case | A syndromic puzzle of cystic kidneys and endocrine dysfunction.
Kidney internationalRole of clonal lineage analysis via next-generation sequencing in identifying the origin of multiple cancers and guiding treatment options.
Japanese journal of clinical oncologyResearch progress in the diagnosis and treatment of pseudomyxoma peritonei.
World journal of surgical oncologyAbdominal Pain Syndromes: Gallstone Disease.
FP essentialsPrevalence and impact of germline mutations in pancreatic ductal adenocarcinoma.
TumoriMetformin suppresses MEN1-associated pancreatic and pituitary neuroendocrine tumors: evidence from mouse models and clinical data.
Endocrine-related cancerGlucagonoma Syndrome With Necrolytic Migratory Erythema.
CureusNatural glycosides from Cistanche deserticola alleviate hepatic ischemia-reperfusion injury via a cAMP-mediated signaling pathway.
Journal of ethnopharmacologyEarly graft failure after adult living donor liver transplantation: A multicenter risk analysis and development of the early allograft failure in living donor liver transplantation (EAGLE-LDLT) model.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyResearch progress in diagnosis and treatment of pancreatic cancer with mismatch repair and microsatellite instability.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoAnnular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.
Reports (MDPI)Interplay of Post-Pancreatectomy Acute Pancreatitis, Postoperative Pancreatic Fistula, and Mortality after Pancreatoduodenectomy: Insights from a Comprehensive Cohort Study of 1594 Patients and Development of Predictive Nomograms.
Journal of the American College of SurgeonsAssociações
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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.
- Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
- Efficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
- MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
- Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.
- [Clinical Manifestations of Childhood Systemic Lupus Erythematosus-associated Acute Pancreatitis and Evaluation of the Efficacy of Plasma Exchange Combined With Glucocorticoids].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition· 2026· PMID 41834965mais citado
- 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:556955(Orphanet)
- MONDO:0034142(MONDO)
- GARD:17992(GARD (NIH))
- 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
