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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 case study details a female patient with phospholipase A2 group VI-associated neurodegeneration, highlighting her long-term follow-up until age 49. This research contributes to understanding the disease's progression and clinical features.

a female case of phospholipase a2 group vi associated neurodegeneration with childhood onset and long term follow up until 49 years of age

PubMed Rare Disease·8 months ago·Read at source →

Original title: “[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].”

Research

A new study focuses on enhancing the diagnostic accuracy of clinical red flags in RASopathies, which are a group of genetic disorders caused by mutations in the RAS signaling pathway. This research aims to improve early detection and management of these conditions.

optimizing diagnostic accuracy of clinical red flags in rasopathies

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.”

Research

A recent study investigates the clinical characteristics and cancer risk associated with anti-OJ antisynthetase syndrome, providing valuable insights into this rare condition. The findings contribute to the understanding of the disease's implications and potential management strategies.

clinical characteristics and cancer risk of anti oj antisynthetase syndrome a cohort comparative study and a systematic literature review

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Clinical characteristics and cancer risk of anti-OJ antisynthetase syndrome: A cohort comparative study and a systematic literature review.”

childhood low-grade gliomaResearch

A recent study evaluates the cost-effectiveness of dabrafenib and trametinib for treating pediatric patients with BRAF V600E mutation low-grade glioma in England and Wales. This research could influence treatment decisions and healthcare resource allocation for this patient population.

evaluating the cost effectiveness of dabrafenib and trametinib for the treatment of paediatric patients with a braf v600e mutation low grade glioma in england and wales

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Evaluating the cost-effectiveness of dabrafenib and trametinib for the treatment of paediatric patients with a BRAF V600E mutation low-grade glioma in England and Wales.”

Research

A case report highlights valproate-induced hyperammonaemic encephalopathy in a psychiatric inpatient, shedding light on potential adverse effects of this medication. This finding emphasizes the need for careful monitoring of ammonia levels in patients receiving valproate.

case report valproate induced hyperammonaemic encephalopathy in a psychiatric inpatient

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Case Report: Valproate Induced Hyperammonaemic Encephalopathy in a Psychiatric Inpatient.”

Research

A corrigendum has been issued for the study on novel VARS1 variants that define new clinical and molecular subtypes of a rare neurodevelopmental syndrome. This highlights ongoing research in understanding the genetic underpinnings of this condition.

corrigendum to novel vars1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome biochim biophys acta mol basis dis 1872 2026 168184

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].”

Research

New guidelines provide insights into the diagnosis and management of congenital platelet function disorders, highlighting current practices and future directions. This comprehensive review aims to enhance understanding and treatment strategies for these rare conditions.

guideline based diagnosis and management of congenital platelet function disorders current insights and future directions

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.”

mycosis fungoides mycosis fungoides variant+1 moreResearch

Recent research using single-cell proteomics has identified lesion-specific aberrant T cells and distinct immunological profiles in patients with mycosis fungoides. These findings could enhance understanding of the disease and inform future therapeutic strategies.

single cell proteomics reveal lesion specific aberrant t cells and immunological profiles in mycosis fungoides

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Single-cell proteomics reveal lesion-specific aberrant T cells and immunological profiles in Mycosis Fungoides.”

Research

New research highlights the amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency, providing insights that could inform future therapeutic strategies. This study contributes to the understanding of the disease's underlying mechanisms.

original research amplification of genetic and metabolic factors in alpha 1 antitrypsin deficiency

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Original research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency.”

cystic fibrosis cystic fibrosis-gastritis-megaloblastic anemia syndromeResearch

A recent study published in PubMed examines the outcomes of SARS-CoV-2 infection in cystic fibrosis patients who have undergone solid organ transplantation. The findings contribute to understanding the impact of COVID-19 in this vulnerable population.

outcomes of sars cov 2 infection post solid organ transplantation in the cystic fibrosis population

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Outcomes of SARS-CoV-2 infection post-solid organ transplantation in the cystic fibrosis population.”

chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemiaResearch

Recent research explores the integration of venetoclax with targeted and immune therapies for chronic lymphocytic leukemia (CLL). This study highlights potential advancements in treatment strategies for CLL patients.

integrating venetoclax based targeted and or immune therapies for chronic lymphocytic leukemia

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Integrating venetoclax-based targeted and/or immune therapies for chronic lymphocytic leukemia.”

Research

A recent study details an emergency staged Whipple procedure as a life-saving intervention for patients with gastroduodenal mucormycosis. This rare surgical approach highlights the critical need for timely intervention in severe cases of this fungal infection.

emergency staged whipple procedure for gastroduodenal mucormycosis a rare life saving intervention

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Emergency staged Whipple procedure for gastroduodenal mucormycosis: a rare life-saving intervention.”

renal cell carcinoma nonpapillary renal cell carcinoma+1 moreResearch

A case report highlights that renal schwannoma can be misidentified as renal cell carcinoma on imaging. This finding underscores the need for careful differential diagnosis in renal tumors.

renal schwannoma appears on imaging as renal cell carcinoma a case report

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Renal schwannoma appears on imaging as renal cell carcinoma: a case report.”

Research

A recent study explores the link between childhood maltreatment and body composition in middle-aged and older adults, highlighting the mediating effects of unhealthy lifestyle choices and depression. This research contributes to understanding how early life experiences can impact health outcomes later in life.

association of childhood maltreatment with dxa derived body composition in middle aged and older adults mediating roles of unhealthy lifestyle and depression

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Association of childhood maltreatment with DXA‑derived body composition in middle‑aged and older adults: mediating roles of unhealthy lifestyle and depression.”

idiopathic pleuroparenchymal fibroelastosisResearch

A recent study provides long-term follow-up data on pleuroparenchymal fibroelastosis in patients with Crohn's disease. This research highlights the association between the two conditions, contributing to the understanding of their relationship.

long term follow up of pleuroparenchymal fibroelastosis associated with crohn s disease

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Long-Term Follow-Up of Pleuroparenchymal Fibroelastosis Associated With Crohn's Disease.”

Research

A recent case report details Extranodal Rosai-Dorfman Disease affecting the male breast, contributing to the understanding of this rare condition. The literature review provides insights into its clinical presentation and management.

extranodal rosai dorfman disease of the male breast a case report and literature review

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Extranodal Rosai-Dorfman Disease of the Male Breast: A Case Report and Literature Review.”

hemophilia hemophilia B+1 moreResearch

A global analysis reveals significant regional variations in hemophilia prevalence, providing insights into future trends. This study highlights the need for tailored healthcare strategies to address the differing needs of hemophilia patients worldwide.

regional variations and trends in hemophilia prevalence a global analysis with future projection

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Regional variations and trends in hemophilia prevalence: A global analysis with future projection.”

Research

A rare case report details cutaneous-to-bronchial Rosai-Dorfman disease without lymphadenopathy, contributing to the understanding of this uncommon condition. The literature review provides insights into its clinical presentation and management.

cutaneous to bronchial rosai dorfman disease without lymphadenopathy a rare case report and literature review

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Cutaneous-to-Bronchial Rosai-Dorfman Disease without Lymphadenopathy: A Rare Case Report and Literature Review.”

neurosarcoidosisResearch

Recent research highlights the complexities of rare neurosarcoidosis involvements, shedding light on its clinical manifestations and potential treatment pathways. This study contributes to the understanding of this rare condition, which may aid in future therapeutic strategies.

rare neurosarcoidosis involvements

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Rare Neurosarcoidosis Involvements.”

cardiac sarcoidosis sarcoidosisResearch

Recent research highlights advancements in cardiac imaging techniques for diagnosing and managing cardiac sarcoidosis. The study emphasizes the need for improved imaging modalities to enhance patient outcomes.

advanced cardiac imaging in cardiac sarcoidosis current evidence and future directions

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Advanced cardiac imaging in cardiac sarcoidosis: current evidence and future directions.”

Previous410 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case study details a female patient with phospholipase A2 group VI-associated neurodegeneration, highlighting her long-term follow-up until age 49. This research contributes to understanding the disease's progression and clinical features.

A new study focuses on enhancing the diagnostic accuracy of clinical red flags in RASopathies, which are a group of genetic disorders caused by mutations in the RAS signaling pathway. This research aims to improve early detection and management of these conditions.

A recent study investigates the clinical characteristics and cancer risk associated with anti-OJ antisynthetase syndrome, providing valuable insights into this rare condition. The findings contribute to the understanding of the disease's implications and potential management strategies.

A recent study evaluates the cost-effectiveness of dabrafenib and trametinib for treating pediatric patients with BRAF V600E mutation low-grade glioma in England and Wales. This research could influence treatment decisions and healthcare resource allocation for this patient population.

A case report highlights valproate-induced hyperammonaemic encephalopathy in a psychiatric inpatient, shedding light on potential adverse effects of this medication. This finding emphasizes the need for careful monitoring of ammonia levels in patients receiving valproate.

A corrigendum has been issued for the study on novel VARS1 variants that define new clinical and molecular subtypes of a rare neurodevelopmental syndrome. This highlights ongoing research in understanding the genetic underpinnings of this condition.

New guidelines provide insights into the diagnosis and management of congenital platelet function disorders, highlighting current practices and future directions. This comprehensive review aims to enhance understanding and treatment strategies for these rare conditions.

Recent research using single-cell proteomics has identified lesion-specific aberrant T cells and distinct immunological profiles in patients with mycosis fungoides. These findings could enhance understanding of the disease and inform future therapeutic strategies.

New research highlights the amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency, providing insights that could inform future therapeutic strategies. This study contributes to the understanding of the disease's underlying mechanisms.

A recent study published in PubMed examines the outcomes of SARS-CoV-2 infection in cystic fibrosis patients who have undergone solid organ transplantation. The findings contribute to understanding the impact of COVID-19 in this vulnerable population.

Recent research explores the integration of venetoclax with targeted and immune therapies for chronic lymphocytic leukemia (CLL). This study highlights potential advancements in treatment strategies for CLL patients.

A recent study details an emergency staged Whipple procedure as a life-saving intervention for patients with gastroduodenal mucormycosis. This rare surgical approach highlights the critical need for timely intervention in severe cases of this fungal infection.

A case report highlights that renal schwannoma can be misidentified as renal cell carcinoma on imaging. This finding underscores the need for careful differential diagnosis in renal tumors.

A recent study provides long-term follow-up data on pleuroparenchymal fibroelastosis in patients with Crohn's disease. This research highlights the association between the two conditions, contributing to the understanding of their relationship.

A recent case report details Extranodal Rosai-Dorfman Disease affecting the male breast, contributing to the understanding of this rare condition. The literature review provides insights into its clinical presentation and management.

A global analysis reveals significant regional variations in hemophilia prevalence, providing insights into future trends. This study highlights the need for tailored healthcare strategies to address the differing needs of hemophilia patients worldwide.

A rare case report details cutaneous-to-bronchial Rosai-Dorfman disease without lymphadenopathy, contributing to the understanding of this uncommon condition. The literature review provides insights into its clinical presentation and management.

Recent research highlights the complexities of rare neurosarcoidosis involvements, shedding light on its clinical manifestations and potential treatment pathways. This study contributes to the understanding of this rare condition, which may aid in future therapeutic strategies.

Recent research highlights advancements in cardiac imaging techniques for diagnosing and managing cardiac sarcoidosis. The study emphasizes the need for improved imaging modalities to enhance patient outcomes.

Not rare diseases news,
news about your rare disease.