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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.

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cutaneous polyarteritis nodosaResearch

A case report highlights the potential benefits of adding intravenous immunoglobulin to the treatment regimen for refractory cutaneous polyarteritis nodosa. This study contributes to the understanding of therapeutic options for this rare condition.

addition of intravenous immunoglobulin in refractory cutaneous polyarteritis nodosa a case report

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Addition of Intravenous Immunoglobulin in Refractory Cutaneous Polyarteritis Nodosa: A Case Report.”

bronchopulmonary dysplasiaResearch

A recent study highlights the effectiveness of multidisciplinary team meetings in managing severe bronchopulmonary dysplasia. The research focuses on recommendations, follow-up strategies, and physician satisfaction, providing insights into improving care for affected patients.

multidisciplinary team meetings for severe bronchopulmonary dysplasia a descriptive study of recommendations follow up and physician satisfaction

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Multidisciplinary team meetings for severe bronchopulmonary dysplasia: a descriptive study of recommendations, follow-up, and physician satisfaction.”

chondrosarcoma extraskeletal myxoid chondrosarcoma+1 moreResearch

A case report details a patient with recurrent dedifferentiated clival chondrosarcoma occurring 32 years post-initial treatment. This highlights the long-term monitoring needs for patients with this rare tumor type.

recurrent dedifferentiated clival chondrosarcoma presenting 32 years after initial treatment a case report

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Recurrent Dedifferentiated Clival Chondrosarcoma Presenting 32 Years after Initial Treatment: A Case Report.”

stone in bladder diverticulumResearch

A case report details the successful use of open cystolithotomy under local anesthesia in a high-risk patient with a giant bladder stone and unilateral lung collapse. This approach may provide insights into surgical options for similar high-risk cases.

open cystolithotomy under local anesthesia in a high risk patient with a giant bladder stone and unilateral lung collapse a case report

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Open Cystolithotomy Under Local Anesthesia in a High-Risk Patient With a Giant Bladder Stone and Unilateral Lung Collapse: A Case Report.”

Lewy body dementiaResearch

A recent study explores cerebrospinal fluid biomarkers including amyloid, p-tau, neurofilament light, and α-synuclein across Alzheimer's disease, dementia with Lewy bodies, and Parkinson's disease. This research enhances understanding of biomarker profiles in these neurodegenerative conditions.

amyloid p tau neurofilament light and synuclein cerebrospinal fluid biomarkers across alzheimer s disease dementia with lewy bodies and parkinson s disease

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Amyloid, p-tau, neurofilament light, and α-synuclein cerebrospinal fluid biomarkers across Alzheimer's disease, dementia with Lewy bodies, and Parkinson's disease.”

cerebellar ataxiaResearch

A recent study explores the role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias, providing insights into potential diagnostic and therapeutic avenues. This research could enhance understanding of disease mechanisms and patient stratification.

role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias

PubMed Rare Disease·30 days ago·Read at source →

Original title: “The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.”

epithelioid hemangioendotheliomaResearch

Researchers have developed the Pain Assessment Criteria for Epithelioid Hemangioendothelioma (PAC-E), aimed at improving pain management for patients with this rare vascular tumor. This new tool addresses the unique pain experiences associated with the disease.

pain in epithelioid hemangioendothelioma development of disease specific pain assessment criteria pac e

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Pain in epithelioid hemangioendothelioma: Development of disease-specific pain assessment criteria (PAC-E).”

Wilson diseaseResearch

A recent study published in PubMed explores non-invasive methods for assessing hepatic steatosis in Wilson disease, utilizing data from an international registry. This research could enhance diagnostic approaches and patient management for those affected by this rare condition.

non invasive assessment of hepatic steatosis in wilson disease an international registry based study

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Non-invasive assessment of hepatic steatosis in Wilson Disease: An international registry-based study.”

Research

Recent research highlights the role of KDM6 histone demethylases in regulating the plasticity of pancreatic cancer. This discovery could provide insights into potential therapeutic targets for treatment.

kdm6 histone demethylases tune pancreatic cancer plasticity

PubMed Rare Disease·30 days ago·Read at source →

Original title: “KDM6 Histone Demethylases Tune Pancreatic Cancer Plasticity.”

malaria Plasmodium vivax malariaResearch

A recent study highlights geographical variation in antimalarial drug resistance markers across the Southern African Elimination Eight region. This research is crucial for tailoring effective malaria treatment strategies in diverse populations.

geographical variation in antimalarial drug resistance marker prevalence across the southern african elimination eight region

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Geographical Variation in Antimalarial Drug Resistance Marker Prevalence across the Southern African Elimination Eight Region.”

thalassemia beta-thalassemia HBB/LCRBResearch

A recent publication discusses innovative approaches to enhance thalassemia care through scalable therapies and artificial intelligence. The study emphasizes the importance of global collaboration in advancing treatment options for this rare disease.

future proofing thalassaemia care harnessing scalable therapies artificial intelligence and global collaboration

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Future-proofing thalassaemia care: harnessing scalable therapies, artificial intelligence, and global collaboration.”

gestational trophoblastic neoplasmResearch

A recent study highlights the benefits of centralized trophoblastic care for patients with gestational trophoblastic neoplasia, suggesting improved outcomes in a statewide service model. This research underscores the importance of specialized care in managing rare diseases.

impact of centralized trophoblastic care on patients with gestational trophoblastic neoplasia in a statewide service

PubMed Rare Disease·30 days ago·Read at source →

Original title: “The Impact of Centralized Trophoblastic Care on Patients With Gestational Trophoblastic Neoplasia in a Statewide Service.”

Research

A study published in PubMed reveals that Swedish carriers of the ATTRV50M mutation exhibit lower mitochondrial DNA copy numbers. This finding may have implications for understanding the disease's pathophysiology and potential therapeutic targets.

lower mitochondrial dna copy number in attrv50m swedish carriers

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers.”

primary pulmonary tuberculosisResearch

A novel robotic bronchoscopy-guided approach enables same-day diagnosis and resection of rare primary pulmonary melanoma. This advancement could enhance treatment timelines for patients with this uncommon cancer.

same day diagnosis and robotic resection of rare primary pulmonary melanoma a robotic bronchoscopy guided approach

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Same-day diagnosis and robotic resection of rare primary pulmonary melanoma: a robotic bronchoscopy-guided approach.”

Ehlers-Danlos syndrome, kyphoscoliotic type, 2Research

A recent study published in PubMed details the molecular and clinical features of kyphoscoliotic Ehlers-Danlos syndrome caused by lysyl hydroxylase 1 deficiency. This research enhances understanding of the disease's pathology and may inform future therapeutic strategies.

molecular and clinical features of kyphoscoliotic ehlers danlos syndrome due to lysyl hydroxylase 1 deficiency

PubMed Rare Disease·30 days ago·Read at source →

Original title: “MOLECULAR AND CLINICAL FEATURES OF KYPHOSCOLIOTIC EHLERS-DANLOS SYNDROME DUE TO LYSYL HYDROXYLASE 1 DEFICIENCY.”

Research

A study compares diagnostic pathways in developmental disorders over a decade, analyzing two multicenter cohorts from 2012 and 2022. The findings highlight changes in diagnostic approaches and outcomes, providing insights for future research and clinical practices.

diagnostic pathways in developmental disorders a decade apart comparison of two multicenter cohorts 2012 2022

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).”

systemic lupus erythematosus systemic lupus erythematosus related to C1QA+1 moreResearch

A case report highlights that primary erythromelalgia linked to an SCN9A variant can present with skin manifestations similar to systemic lupus erythematosus. This finding underscores the need for careful differential diagnosis in patients exhibiting these symptoms.

primary erythromelalgia associated with an scn9a variant can mimic systemic lupus erythematosus in skin manifestations a case report

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Primary erythromelalgia associated with an SCN9A variant can mimic systemic lupus erythematosus in skin manifestations: a case report.”

chronic pancreatitis hereditary chronic pancreatitisResearch

A new study explores the gut-pancreas axis in chronic pancreatitis, focusing on the interactions between microbiota and endogenous GLP-1. The research identifies potential repair pathways that could inform future therapeutic strategies.

gut pancreas axis in chronic pancreatitis microbiota endogenous glp 1 interactions and candidate repair pathways

PubMed Rare Disease·30 days ago·Read at source →

Original title: “The gut-pancreas axis in chronic pancreatitis: Microbiota-endogenous GLP-1 interactions and candidate repair pathways.”

Research

A literature review highlights the diagnostic and therapeutic challenges posed by rare bacterial infections, emphasizing the role of metagenomics in improving detection and treatment strategies. This research underscores the need for advanced methodologies to address these complex infections.

rare bacterial infections and metagenomics current diagnostic and therapeutic challenges a literature review

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Rare bacterial infections and metagenomics: current diagnostic and therapeutic challenges-a literature review.”

Kikuchi-Fujimoto diseaseResearch

A recent study highlights the diagnostic challenges of haemophagocytic lymphohistiocytosis when triggered by Kikuchi-Fujimoto disease. This research underscores the complexity of diagnosing overlapping rare diseases.

haemophagocytic lymphohistiocytosis triggered by kikuchi fujimoto disease a diagnostic challenge

PubMed Rare Disease·30 days ago·Read at source →

Original title: “Haemophagocytic lymphohistiocytosis triggered by Kikuchi-Fujimoto disease: a diagnostic challenge.”

Previous52 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report highlights the potential benefits of adding intravenous immunoglobulin to the treatment regimen for refractory cutaneous polyarteritis nodosa. This study contributes to the understanding of therapeutic options for this rare condition.

A recent study highlights the effectiveness of multidisciplinary team meetings in managing severe bronchopulmonary dysplasia. The research focuses on recommendations, follow-up strategies, and physician satisfaction, providing insights into improving care for affected patients.

A case report details a patient with recurrent dedifferentiated clival chondrosarcoma occurring 32 years post-initial treatment. This highlights the long-term monitoring needs for patients with this rare tumor type.

A case report details the successful use of open cystolithotomy under local anesthesia in a high-risk patient with a giant bladder stone and unilateral lung collapse. This approach may provide insights into surgical options for similar high-risk cases.

A recent study explores cerebrospinal fluid biomarkers including amyloid, p-tau, neurofilament light, and α-synuclein across Alzheimer's disease, dementia with Lewy bodies, and Parkinson's disease. This research enhances understanding of biomarker profiles in these neurodegenerative conditions.

A recent study explores the role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias, providing insights into potential diagnostic and therapeutic avenues. This research could enhance understanding of disease mechanisms and patient stratification.

Researchers have developed the Pain Assessment Criteria for Epithelioid Hemangioendothelioma (PAC-E), aimed at improving pain management for patients with this rare vascular tumor. This new tool addresses the unique pain experiences associated with the disease.

A recent study published in PubMed explores non-invasive methods for assessing hepatic steatosis in Wilson disease, utilizing data from an international registry. This research could enhance diagnostic approaches and patient management for those affected by this rare condition.

Recent research highlights the role of KDM6 histone demethylases in regulating the plasticity of pancreatic cancer. This discovery could provide insights into potential therapeutic targets for treatment.

A recent study highlights geographical variation in antimalarial drug resistance markers across the Southern African Elimination Eight region. This research is crucial for tailoring effective malaria treatment strategies in diverse populations.

A recent publication discusses innovative approaches to enhance thalassemia care through scalable therapies and artificial intelligence. The study emphasizes the importance of global collaboration in advancing treatment options for this rare disease.

A recent study highlights the benefits of centralized trophoblastic care for patients with gestational trophoblastic neoplasia, suggesting improved outcomes in a statewide service model. This research underscores the importance of specialized care in managing rare diseases.

A study published in PubMed reveals that Swedish carriers of the ATTRV50M mutation exhibit lower mitochondrial DNA copy numbers. This finding may have implications for understanding the disease's pathophysiology and potential therapeutic targets.

A novel robotic bronchoscopy-guided approach enables same-day diagnosis and resection of rare primary pulmonary melanoma. This advancement could enhance treatment timelines for patients with this uncommon cancer.

A recent study published in PubMed details the molecular and clinical features of kyphoscoliotic Ehlers-Danlos syndrome caused by lysyl hydroxylase 1 deficiency. This research enhances understanding of the disease's pathology and may inform future therapeutic strategies.

A study compares diagnostic pathways in developmental disorders over a decade, analyzing two multicenter cohorts from 2012 and 2022. The findings highlight changes in diagnostic approaches and outcomes, providing insights for future research and clinical practices.

A case report highlights that primary erythromelalgia linked to an SCN9A variant can present with skin manifestations similar to systemic lupus erythematosus. This finding underscores the need for careful differential diagnosis in patients exhibiting these symptoms.

A new study explores the gut-pancreas axis in chronic pancreatitis, focusing on the interactions between microbiota and endogenous GLP-1. The research identifies potential repair pathways that could inform future therapeutic strategies.

A literature review highlights the diagnostic and therapeutic challenges posed by rare bacterial infections, emphasizing the role of metagenomics in improving detection and treatment strategies. This research underscores the need for advanced methodologies to address these complex infections.

A recent study highlights the diagnostic challenges of haemophagocytic lymphohistiocytosis when triggered by Kikuchi-Fujimoto disease. This research underscores the complexity of diagnosing overlapping rare diseases.

Not rare diseases news,
news about your rare disease.