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What's new in your rare disease | Kisho

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news about your rare disease.

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eosinophilic granulomatosis with polyangiitisResearch

A large European cohort study identifies predictors of relapse and glucocorticoid dependence in eosinophilic granulomatosis with polyangiitis. These findings could inform treatment strategies and improve patient management.

prediction of relapse and glucocorticoid dependence in eosinophilic granulomatosis with polyangiitis findings from a large european cohort

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Prediction of Relapse and Glucocorticoid Dependence in Eosinophilic Granulomatosis with Polyangiitis: Findings from a Large European Cohort.”

carpal tunnel syndrome carpal tunnel syndrome 1+1 moreResearch

A recent study explores the clinical, surgical, and histopathological aspects of carpal tunnel syndrome in patients with mucopolysaccharidosis type I. The findings contribute to understanding the complications associated with this rare disease.

carpal tunnel syndrome in mucopolysaccharidosis type i clinical surgical and histopathological findings

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.”

Research

A recent study identifies human CNTNAP1 gene variants linked to severe neurological deficits, expanding the understanding of this genetic condition. The research includes additional case reports and a comprehensive literature review.

human cntnap1 variants associated with severe neurological deficits additional cases and literature review

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.”

Research

A case report highlights the use of efgartigimod as an add-on therapy for anti-IgLON5 disease, suggesting potential therapeutic benefits. This study contributes to the understanding of treatment options for this rare neurological condition.

efgartigimod as an add on therapy for anti iglon5 disease a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Efgartigimod as an Add-on Therapy for Anti-IgLON5 Disease: A Case Report.”

pancreatic acinar cell carcinoma pancreatic acinar cell cystadenocarcinoma+1 moreResearch

A recent autopsy case study reveals multiple liver metastases originating from minute pancreatic acinar cell carcinoma, initially misdiagnosed as primary hepatic acinar cell carcinoma. This finding underscores the complexity of diagnosing pancreatic tumors and their metastatic behavior.

autopsy case of multiple liver metastases from minute pancreatic acinar cell carcinoma clinically diagnosed as primary hepatic acinar cell carcinoma

PubMed Rare Disease·9 months ago·Read at source →

Original title: “An autopsy case of multiple liver metastases from minute pancreatic acinar cell carcinoma clinically diagnosed as primary hepatic acinar cell carcinoma.”

acute graft versus host diseaseResearch

A recent case report highlights the occurrence of acute graft-versus-host disease following deceased-donor liver transplantation. This finding may inform future clinical practices and patient management strategies in transplant settings.

acute graft versus host disease after deceased donor liver transplantation a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Acute Graft-Versus-Host Disease After Deceased-Donor Liver Transplantation: A Case Report.”

Research

A recent study analyzes the clinical characteristics and treatment outcomes of pediatric patients with Philadelphia chromosome positive acute lymphoblastic leukemia, focusing on the p190 and p210 subtypes in the era of tyrosine kinase inhibitors (TKIs). This comparative analysis provides insights into the effectiveness of current treatment strategies.

clinical characteristics and treatment outcomes of pediatric philadelphia chromosome positive acute lymphoblastic leukemia a comparative analysis of p190 and p210 subtypes in the tki era

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Clinical characteristics and treatment outcomes of pediatric Philadelphia chromosome positive acute lymphoblastic leukemia: a comparative analysis of p190 and p210 subtypes in the TKI era.”

arginase deficiencyResearch

A recent study published in PubMed provides insights into the clinical characteristics and natural history of arginase 1 deficiency, based on data from international clinical trials. This research enhances understanding of the disease's progression and patient outcomes.

clinical characteristics of arginase 1 deficiency natural history insights from international clinical trials

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.”

Research

A narrative literature review examines the effects of high-dose methotrexate on bone metabolism, highlighting potential implications for patient management. The findings could inform treatment strategies for conditions requiring methotrexate therapy.

effects of high dose methotrexate on bone metabolism a narrative literature review

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Effects of high-dose methotrexate on bone metabolism: A narrative literature review.”

Research

A recent publication highlights a rare cause of massive haemoptysis in adolescents, contributing to the understanding of this critical symptom. The findings may inform future research and clinical approaches to similar cases.

rare cause of massive haemoptysis in an adolescent

PubMed Rare Disease·9 months ago·Read at source →

Original title: “A rare cause of massive haemoptysis in an adolescent.”

Research

A new study investigates the effectiveness of combining surgery with radiation therapy versus surgery alone for treating complicated orbital solitary fibrous tumors. This research provides valuable insights into treatment options for this rare disease.

role of surgery plus radiation versus surgery alone in the management for complicated orbital solitary fibrous tumor a new insight on a rare disease

PubMed Rare Disease·9 months ago·Read at source →

Original title: “The role of surgery plus radiation versus surgery alone in the management for complicated orbital solitary fibrous tumor: a new insight on a rare disease.”

neonatal sepsisResearch

Research highlights the role of the mTOR pathway in mediating endoplasmic reticulum stress-induced apoptosis of CD4+ T cells during sepsis. This study suggests that inhibiting autophagy flux may be a critical factor in this process.

mtor pathway mediates the endoplasmic reticulum stress apoptosis of cd4 t cell through inhibiting autophagy flux in sepsis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “mTOR pathway mediates the endoplasmic reticulum stress -apoptosis of CD4+ T cell through inhibiting autophagy flux in sepsis.”

Research

A case report details a rare instance of mammary metaplastic squamous cell carcinoma, contributing to the understanding of this uncommon breast cancer subtype. This report may aid in recognizing and diagnosing similar cases in clinical practice.

mammary metaplastic squamous cell carcinoma a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Mammary metaplastic squamous cell carcinoma: a case report.”

Legionnaires' disease bronchopneumonia+1 moreResearch

A rare case report highlights an unexpected diagnosis of Legionnaires' disease in a patient initially thought to have bronchopneumonia, which progressed to sepsis. This case underscores the importance of considering rare diseases in differential diagnoses.

from bronchopneumonia to sepsis an unexpected diagnosis of legionnaires disease a rare case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “From Bronchopneumonia to Sepsis: " An Unexpected Diagnosis of Legionnaires' Disease" A rare case report.”

Research

A study published in PubMed evaluates the safety and efficacy of fecal microbiota live-jslm for preventing recurrent Clostridioides difficile infections in hospitalized patients. The findings contribute to the understanding of microbiota-based therapies in managing this challenging infection.

safety and efficacy of fecal microbiota live jslm for prevention of recurrent clostridioides difficile infection among hospitalized participants in punch cd3 ols

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Safety and Efficacy of Fecal Microbiota, Live-jslm for Prevention of Recurrent Clostridioides difficile Infection Among Hospitalized Participants in PUNCH CD3-OLS.”

Research

A new study highlights the complementary use of long-read sequencing and optical mapping to identify structural variants in Parkinson's disease. This approach could enhance understanding of genetic factors contributing to the disease.

complementarity of long reads and optical mapping in parkinson s disease for structural variants

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.”

hereditary breast carcinoma breast carcinoma+1 moreResearch

A recent case report and systematic review highlight the rare occurrence of colonic metastasis from breast carcinoma. This study provides insights into the clinical implications and management of this uncommon metastatic pattern.

colonic metastasis from breast carcinoma a case report and systematic review of a rare clinical scenario

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Colonic metastasis from breast carcinoma: A case report and systematic review of a rare clinical scenario.”

Research

A multicenter study investigates the clinical features and outcomes of arrhythmogenic cardiomyopathy linked to a desmoglein-2 founder variant. This research enhances understanding of the disease's genetic basis and potential implications for patient management.

clinical features and outcome of arrhythmogenic cardiomyopathy due to a desmoglein 2 founder variant a multicenter study

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Clinical Features and Outcome of Arrhythmogenic Cardiomyopathy due to a Desmoglein-2 Founder Variant: A Multicenter Study.”

hyperthyroidism familial gestational hyperthyroidismResearch

A case report highlights the challenges of performing coronary artery bypass grafting in patients with severe hyperthyroidism. This study contributes to understanding the surgical risks associated with this endocrine disorder.

coronary artery bypass grafting in the presence of severe hyperthyroidism a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Coronary Artery Bypass Grafting in the Presence of Severe Hyperthyroidism: A Case Report.”

anal canal cancerResearch

The SEOM-GEMCAD-TTD clinical guidelines for anal cancer have been published for 2025, providing updated recommendations for diagnosis and treatment. These guidelines aim to enhance clinical practice and improve patient outcomes in anal cancer management.

seom gemcad ttd clinical guidelines for anal cancer 2025

PubMed Rare Disease·9 months ago·Read at source →

Original title: “SEOM-GEMCAD-TTD clinical guidelines for anal cancer (2025).”

Previous471 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A large European cohort study identifies predictors of relapse and glucocorticoid dependence in eosinophilic granulomatosis with polyangiitis. These findings could inform treatment strategies and improve patient management.

A recent study explores the clinical, surgical, and histopathological aspects of carpal tunnel syndrome in patients with mucopolysaccharidosis type I. The findings contribute to understanding the complications associated with this rare disease.

A recent study identifies human CNTNAP1 gene variants linked to severe neurological deficits, expanding the understanding of this genetic condition. The research includes additional case reports and a comprehensive literature review.

A case report highlights the use of efgartigimod as an add-on therapy for anti-IgLON5 disease, suggesting potential therapeutic benefits. This study contributes to the understanding of treatment options for this rare neurological condition.

A recent autopsy case study reveals multiple liver metastases originating from minute pancreatic acinar cell carcinoma, initially misdiagnosed as primary hepatic acinar cell carcinoma. This finding underscores the complexity of diagnosing pancreatic tumors and their metastatic behavior.

A recent case report highlights the occurrence of acute graft-versus-host disease following deceased-donor liver transplantation. This finding may inform future clinical practices and patient management strategies in transplant settings.

A recent study published in PubMed provides insights into the clinical characteristics and natural history of arginase 1 deficiency, based on data from international clinical trials. This research enhances understanding of the disease's progression and patient outcomes.

A narrative literature review examines the effects of high-dose methotrexate on bone metabolism, highlighting potential implications for patient management. The findings could inform treatment strategies for conditions requiring methotrexate therapy.

A recent publication highlights a rare cause of massive haemoptysis in adolescents, contributing to the understanding of this critical symptom. The findings may inform future research and clinical approaches to similar cases.

A new study investigates the effectiveness of combining surgery with radiation therapy versus surgery alone for treating complicated orbital solitary fibrous tumors. This research provides valuable insights into treatment options for this rare disease.

Research highlights the role of the mTOR pathway in mediating endoplasmic reticulum stress-induced apoptosis of CD4+ T cells during sepsis. This study suggests that inhibiting autophagy flux may be a critical factor in this process.

A case report details a rare instance of mammary metaplastic squamous cell carcinoma, contributing to the understanding of this uncommon breast cancer subtype. This report may aid in recognizing and diagnosing similar cases in clinical practice.

A rare case report highlights an unexpected diagnosis of Legionnaires' disease in a patient initially thought to have bronchopneumonia, which progressed to sepsis. This case underscores the importance of considering rare diseases in differential diagnoses.

A study published in PubMed evaluates the safety and efficacy of fecal microbiota live-jslm for preventing recurrent Clostridioides difficile infections in hospitalized patients. The findings contribute to the understanding of microbiota-based therapies in managing this challenging infection.

A new study highlights the complementary use of long-read sequencing and optical mapping to identify structural variants in Parkinson's disease. This approach could enhance understanding of genetic factors contributing to the disease.

A recent case report and systematic review highlight the rare occurrence of colonic metastasis from breast carcinoma. This study provides insights into the clinical implications and management of this uncommon metastatic pattern.

A multicenter study investigates the clinical features and outcomes of arrhythmogenic cardiomyopathy linked to a desmoglein-2 founder variant. This research enhances understanding of the disease's genetic basis and potential implications for patient management.

A case report highlights the challenges of performing coronary artery bypass grafting in patients with severe hyperthyroidism. This study contributes to understanding the surgical risks associated with this endocrine disorder.

The SEOM-GEMCAD-TTD clinical guidelines for anal cancer have been published for 2025, providing updated recommendations for diagnosis and treatment. These guidelines aim to enhance clinical practice and improve patient outcomes in anal cancer management.

Not rare diseases news,
news about your rare disease.