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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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Research

A new study discusses borrowing-dependent estimands in external-control trials, focusing on their identification, efficiency, and sensitivity in survival analysis. This research could enhance the design and interpretation of clinical trials in rare diseases.

borrowing dependent estimands in external control trials identification efficiency and sensitivity in survival analysis

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Borrowing-dependent estimands in external-control trials: Identification, efficiency, and sensitivity in survival analysis.”

collagen type III glomerulopathyResearch

A study presents four cases of type III collagen deposition glomerulopathy, contributing to the understanding of this rare kidney disease. The findings are summarized alongside a review of existing literature, highlighting the need for further research.

four cases of type iii collagen deposition glomerulopathy and summary of the literature

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Four cases of type III collagen deposition glomerulopathy and summary of the literature.”

progressive myoclonus epilepsy progressive myoclonic epilepsy with dystonia+1 moreResearch

A study published in PubMed reveals significant alterations in peripheral immune cell populations in a mouse model of progressive myoclonus epilepsy of Lafora type. This research could provide insights into the immune mechanisms involved in this rare form of epilepsy.

alterations in the populations of peripheral immune cells in the blood of a mouse model of progressive myoclonus epilepsy of lafora type

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Alterations in the populations of peripheral immune cells in the blood of a mouse model of progressive myoclonus epilepsy of Lafora type.”

cancer esophageal cancerResearch

Recent research highlights the use of micro/nanostructured materials and microfluidic diagnostic platforms for the multimodal detection of circulating tumor cells. This advancement could enhance early cancer detection and monitoring.

micro nanostructured materials and microfluidic diagnostic platforms enable multimodal detection of circulating tumor cells

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Micro/Nanostructured Materials and Microfluidic Diagnostic Platforms Enable Multimodal Detection of Circulating Tumor Cells.”

Research

A comprehensive review discusses the identification and clinical management of D-- phenotype and anti-Rh17 alloimmunization. This research highlights the complexities involved in managing patients with these rare blood group phenotypes.

d phenotype and anti rh17 alloimmunization a comprehensive review of identification and clinical management

PubMed Rare Disease·25 days ago·Read at source →

Original title: “D-- phenotype and anti-Rh17 alloimmunization: a comprehensive review of identification and clinical management.”

Research

A study published in PubMed examines trends of human parvovirus B19 using electronic health records in Minnesota from January 2019 to September 2024. This research highlights the potential of EHRs in tracking nonreportable diseases.

detecting nonreportable disease trends using electronic health records human parvovirus b19 in minnesota january 2019 through september 2024

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Detecting Nonreportable Disease Trends Using Electronic Health Records: Human Parvovirus B19 in Minnesota, January 2019 Through September 2024.”

Research

A new publication outlines the therapeutic development pipeline for frontotemporal lobar degeneration, projecting advancements through 2026. This research highlights ongoing efforts to address this complex neurodegenerative disease.

frontotemporal lobar degeneration therapeutic development pipeline 2026

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Frontotemporal lobar degeneration therapeutic development pipeline: 2026.”

paraganglioma pheochromocytoma/paraganglioma syndrome 5+1 moreResearch

A new case report highlights catecholamine-secreting retroperitoneal paraganglioma, contributing to the understanding of this rare tumor. The literature review provides insights into diagnosis and management strategies.

catecholamine secreting retroperitoneal paraganglioma a case report and literature review

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Catecholamine-Secreting Retroperitoneal Paraganglioma: A Case Report and Literature Review.”

Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 1A+1 moreResearch

A study highlights the prevalence of rare diseases, specifically Ullrich muscular dystrophy, in consanguineous marriages within resource-limited settings. This research underscores the genetic implications of consanguinity on rare disease occurrence.

prevalence of rare diseases in consanguineous marriages a case of ullrich muscular dystrophy in a resource limited setting

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting.”

parkinsonism-dystonia, infantile torsion dystonia 17Research

A multicentric observational study reveals significant genotype-phenotype correlations in THAP1-associated dystonia, enhancing understanding of this rare movement disorder. The findings may inform future research and therapeutic strategies.

genotype phenotype correlations in thap1 associated dystonia a multicentric observational study

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Genotype-Phenotype Correlations in THAP1-Associated Dystonia: A Multicentric Observational Study.”

Research

A new study introduces scGEN, an adaptive weighting strategy designed to enhance cell clustering in single-cell RNA sequencing. This advancement could improve the analysis of complex cellular environments in rare diseases.

scgen leveraging an adaptive weighting strategy for challenging cell clustering in single cell rna seq

PubMed Rare Disease·25 days ago·Read at source →

Original title: “scGEN: Leveraging an Adaptive Weighting Strategy for Challenging Cell Clustering in Single-Cell RNA-seq.”

Research

A case report details the successful management of pediatric conjunctival papilloma using a staged multimodal therapy approach. This study contributes to the understanding of treatment options for this rare ocular condition.

pediatric conjunctival papilloma managed with staged multimodal therapy a case report

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Pediatric conjunctival papilloma managed with staged multimodal therapy: a case report.”

diabetes mellitus HIV-associated nephropathy+1 moreResearch

A cross-sectional analysis from the InterCARE study highlights significant gaps in diabetes care among individuals living with HIV and hypertension in Botswana. This research underscores the need for improved healthcare strategies to address these comorbidities.

gaps in diabetes care among people living with hiv and hypertension in botswana a cross sectional analysis of the intercare study

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Gaps in diabetes care among people living with HIV and hypertension in Botswana: A cross-sectional analysis of the InterCARE study.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A recent study evaluates the quality of end-of-life care for patients with systemic sclerosis, highlighting critical areas for improvement. The findings aim to enhance patient experiences and outcomes during this challenging phase of the disease.

assessing the quality of end of life care in systemic sclerosis

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Assessing the quality of end-of-life care in systemic sclerosis.”

myelin oligodendrocyte glycoprotein antibody-associated diseaseResearch

A recent publication emphasizes the need for systematic mental health screening in the care of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) in Latin America. This approach aims to address the often-overlooked mental health aspects of these conditions.

beyond physical disability the case for systematic mental health screening in the care of nmosd and mogad in latin america

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Beyond physical disability: the case for systematic mental health screening in the care of NMOSD and MOGAD in Latin America.”

idiopathic pleuroparenchymal fibroelastosis mitochondrial DNA depletion syndrome+1 moreResearch

A new study explores pleuroparenchymal fibroelastosis associated with a monogenic mitochondrial DNA depletion syndrome. This research adds to the understanding of the disease's pathology and potential genetic underpinnings.

pleuroparenchymal fibroelastosis in a monogenic mitochondrial dna depletion syndrome

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.”

monoclonal gammopathy monoclonal gammopathy of uncertain significance+1 moreResearch

A study analyzed 15,068 cases in China using mass spectrometry to screen for monoclonal gammopathy during routine physical exams. This research could enhance early detection strategies for this condition.

mass spectrometry based screening for monoclonal gammopathy in individuals undergoing routine physical examinations analyses of consecutive 15 068 cases in china

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Mass spectrometry-based screening for monoclonal gammopathy in individuals undergoing routine physical examinations: Analyses of consecutive 15,068 cases in China.”

wet macular degeneration age related macular degeneration 7Research

A new Chinese expert consensus outlines high-dose anti-vascular endothelial growth factor therapy for treating neovascular age-related macular degeneration. This consensus aims to standardize treatment approaches and improve patient outcomes in this prevalent condition.

chinese expert consensus on high dose anti vascular endothelial growth factor therapy for neovascular age related macular degeneration 2026

PubMed Rare Disease·25 days ago·Read at source →

Original title: “[Chinese expert consensus on high-dose anti-vascular endothelial growth factor therapy for neovascular age-related macular degeneration (2026)].”

Research

A recent study highlights GVHD-associated angiomatosis as a significant vascular complication of chronic graft-versus-host disease. This discovery may lead to improved understanding and management of vascular sequelae in affected patients.

gvhd associated angiomatosis an overlooked vascular sequela of chronic graft versus host disease

PubMed Rare Disease·25 days ago·Read at source →

Original title: “GVHD-Associated Angiomatosis: An Overlooked Vascular Sequela of Chronic Graft-Versus-Host Disease.”

Research

A new study identifies iododerma as a distinctive neutrophil-rich dermatosis associated with hydralazine exposure and autoimmune serologic abnormalities. This research highlights the unique histopathologic features of the condition, potentially aiding in diagnosis.

unmasking iododerma a distinctive histopathologic pattern of neutrophil rich dermatosis with haloed cryptococcoid bodies in the setting of hydralazine exposure and autoimmune serologic abnormalities

PubMed Rare Disease·25 days ago·Read at source →

Original title: “Unmasking Iododerma: A Distinctive Histopathologic Pattern of Neutrophil-Rich Dermatosis With Haloed Cryptococcoid Bodies in the Setting of Hydralazine Exposure and Autoimmune Serologic Abnormalities.”

Previous42 / 481Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A new study discusses borrowing-dependent estimands in external-control trials, focusing on their identification, efficiency, and sensitivity in survival analysis. This research could enhance the design and interpretation of clinical trials in rare diseases.

A study presents four cases of type III collagen deposition glomerulopathy, contributing to the understanding of this rare kidney disease. The findings are summarized alongside a review of existing literature, highlighting the need for further research.

A study published in PubMed reveals significant alterations in peripheral immune cell populations in a mouse model of progressive myoclonus epilepsy of Lafora type. This research could provide insights into the immune mechanisms involved in this rare form of epilepsy.

Recent research highlights the use of micro/nanostructured materials and microfluidic diagnostic platforms for the multimodal detection of circulating tumor cells. This advancement could enhance early cancer detection and monitoring.

A comprehensive review discusses the identification and clinical management of D-- phenotype and anti-Rh17 alloimmunization. This research highlights the complexities involved in managing patients with these rare blood group phenotypes.

A study published in PubMed examines trends of human parvovirus B19 using electronic health records in Minnesota from January 2019 to September 2024. This research highlights the potential of EHRs in tracking nonreportable diseases.

A new publication outlines the therapeutic development pipeline for frontotemporal lobar degeneration, projecting advancements through 2026. This research highlights ongoing efforts to address this complex neurodegenerative disease.

A new case report highlights catecholamine-secreting retroperitoneal paraganglioma, contributing to the understanding of this rare tumor. The literature review provides insights into diagnosis and management strategies.

A study highlights the prevalence of rare diseases, specifically Ullrich muscular dystrophy, in consanguineous marriages within resource-limited settings. This research underscores the genetic implications of consanguinity on rare disease occurrence.

A multicentric observational study reveals significant genotype-phenotype correlations in THAP1-associated dystonia, enhancing understanding of this rare movement disorder. The findings may inform future research and therapeutic strategies.

A new study introduces scGEN, an adaptive weighting strategy designed to enhance cell clustering in single-cell RNA sequencing. This advancement could improve the analysis of complex cellular environments in rare diseases.

A case report details the successful management of pediatric conjunctival papilloma using a staged multimodal therapy approach. This study contributes to the understanding of treatment options for this rare ocular condition.

A cross-sectional analysis from the InterCARE study highlights significant gaps in diabetes care among individuals living with HIV and hypertension in Botswana. This research underscores the need for improved healthcare strategies to address these comorbidities.

A recent study evaluates the quality of end-of-life care for patients with systemic sclerosis, highlighting critical areas for improvement. The findings aim to enhance patient experiences and outcomes during this challenging phase of the disease.

A new study explores pleuroparenchymal fibroelastosis associated with a monogenic mitochondrial DNA depletion syndrome. This research adds to the understanding of the disease's pathology and potential genetic underpinnings.

A study analyzed 15,068 cases in China using mass spectrometry to screen for monoclonal gammopathy during routine physical exams. This research could enhance early detection strategies for this condition.

A new Chinese expert consensus outlines high-dose anti-vascular endothelial growth factor therapy for treating neovascular age-related macular degeneration. This consensus aims to standardize treatment approaches and improve patient outcomes in this prevalent condition.

A recent study highlights GVHD-associated angiomatosis as a significant vascular complication of chronic graft-versus-host disease. This discovery may lead to improved understanding and management of vascular sequelae in affected patients.

A new study identifies iododerma as a distinctive neutrophil-rich dermatosis associated with hydralazine exposure and autoimmune serologic abnormalities. This research highlights the unique histopathologic features of the condition, potentially aiding in diagnosis.

Not rare diseases news,
news about your rare disease.