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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

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Research

A scoping review examines the impact of orthopedic surgery on activities of daily living and quality of life in patients with haemophilic arthropathy. This research highlights the need for improved postoperative care strategies to enhance patient outcomes.

activities of daily living and quality of life after orthopaedic surgery for haemophilic arthropathy a scoping review

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Activities of Daily Living and Quality of Life After Orthopaedic Surgery for Haemophilic Arthropathy: A Scoping Review.”

myelofibrosisResearch

A study highlights the diagnostic challenges posed by the calreticulin type 26 mutation in myelofibrosis, a rare variant that complicates accurate diagnosis. Understanding this mutation is crucial for improving patient outcomes in myelofibrosis.

calreticulin type 26 mutation in myelofibrosis a rare variant with diagnostic challenges

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Calreticulin Type 26 Mutation in Myelofibrosis: A Rare Variant With Diagnostic Challenges.”

Research

Research indicates that semaglutide reduces neuroinflammation and cognitive impairment in APP/PS1 mouse models, suggesting potential therapeutic effects for Alzheimer's disease. This study contributes to the understanding of semaglutide's broader applications beyond diabetes management.

semaglutide ameliorates neuroinflammation and cognitive impairment in app ps1 mice

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Semaglutide ameliorates neuroinflammation and cognitive impairment in APP/PS1 mice.”

Research

A recent publication discusses the challenges and opportunities in RNA regulation for developing RNA-based therapies in Europe. The insights could inform future research directions and therapeutic strategies in rare diseases.

decoding rna regulation challenges and opportunities for rna based therapies in europe

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Decoding RNA regulation: Challenges and opportunities for RNA-based therapies in Europe.”

resistant hypertension hyperaldosteronism+1 moreResearch

Recent research sheds light on the connections between resistant hypertension, hyperaldosteronism, and hypercortisolism, enhancing the understanding of these conditions. This emerging knowledge could inform future therapeutic strategies and patient management.

resistant hypertension hyperaldosteronism and the emerging understanding of hypercortisolism

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Resistant hypertension, hyperaldosteronism, and the emerging understanding of hypercortisolism.”

Research

Research indicates that carboplatin can reduce neurotoxicity caused by TDP-43 in astrocytes by inhibiting NF-κB activation. This discovery may have implications for therapeutic strategies targeting neurodegenerative diseases associated with TDP-43 pathology.

carboplatin alleviates astrocytic tdp 43 neurotoxicity by inhibiting nf b activation

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Carboplatin alleviates astrocytic TDP-43 neurotoxicity by inhibiting NF-κB activation.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A study from the SPRING registry reveals clinical and serological features of triple autoantibody-negative patients with systemic sclerosis. This research enhances understanding of this subset of patients, which may inform future therapeutic strategies.

clinical and serological features of triple autoantibody negative patients with systemic sclerosis insights from the multicentric spring registry of the italian society for rheumatology

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Clinical and serological features of triple autoantibody-negative patients with systemic sclerosis: insights from the multicentric SPRING registry of the Italian Society for Rheumatology.”

brachial plexus neuritis brachial plexus neuropathy+1 moreResearch

A recent study published in PubMed discusses the surgical management of pediatric brachial plexus lipoma, highlighting techniques and outcomes. This research contributes to the understanding of treatment options for this rare condition.

surgical management of a paediatric brachial plexus lipoma

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Surgical management of a paediatric brachial plexus lipoma.”

Research

A new study discusses the repair of a unicuspid aortic valve using root stabilization techniques. This research contributes to the understanding of surgical options for patients with this specific heart valve anomaly.

repair of a unicuspid aortic valve with root stabilization

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Repair of a unicuspid aortic valve with root stabilization.”

mitral valve disorder mitral valve prolapse, myxomatous 3+1 moreResearch

A case report details mitral valve endocarditis associated with Kodamaea ohmeri, leading to septic embolism in the right femoral artery. This highlights the need for awareness of rare fungal infections in endocarditis cases.

kodamaea ohmeri associated mitral valve endocarditis complicated by septic embolism of the right femoral artery a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Kodamaea ohmeri-associated mitral valve endocarditis complicated by septic embolism of the right femoral artery: a case report.”

esophageal adenocarcinomaResearch

A case study highlights a fatal instance of esophageal adenocarcinoma in a pregnant woman, initially misdiagnosed as gestational hyperemesis. This research underscores the importance of accurate diagnosis in pregnant patients presenting with gastrointestinal symptoms.

fatal esophageal adenocarcinoma in a pregnant woman mimicking gestational hyperemesis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Fatal esophageal adenocarcinoma in a pregnant woman mimicking gestational hyperemesis.”

dementia semantic dementiaResearch

A U.S. population-based study reveals prevalence and patterns of unexpected lucidity in deeply forgetful patients, contributing to the understanding of cognitive function in dementia. These findings may influence future research and therapeutic approaches.

prevalence and patterns of unexpected lucidity among deeply forgetful patients findings from a u s population based study

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Prevalence and Patterns of Unexpected Lucidity Among Deeply Forgetful Patients: Findings From a U.S. Population-Based Study.”

secondary hypertension malignant secondary hypertension+1 moreResearch

A recent study published in PubMed indicates that the ambulatory arterial stiffness index does not accurately measure arterial stiffness in children at risk of secondary hypertension. This finding challenges previous assumptions and may impact future research methodologies in pediatric hypertension.

ambulatory arterial stiffness index is not a measure of arterial stiffness in a selected group of children at risk of secondary hypertension

PubMed Rare Disease·6 months ago·Read at source →

Original title: “The ambulatory arterial stiffness index is not a measure of arterial stiffness in a selected group of children at risk of secondary hypertension.”

occupational lung disease interstitial lung disease 2Research

A new study investigates the tensile mechanics of human lung parenchyma and how smoking affects these properties. This research could provide insights into lung diseases related to smoking.

human lung parenchyma tensile mechanics and the effects of smoking

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Human lung parenchyma: tensile mechanics and the effects of smoking.”

chronic rhinosinusitis bronchiectasis and nasal polyposis+1 moreResearch

A recent study analyzes the effectiveness of mepolizumab dosing in treating chronic rhinosinusitis with nasal polyposis in patients with eosinophilic granulomatosis with polyangiitis (EGPA). The research highlights the potential role of adjunctive endoscopic sinus surgery in improving patient outcomes.

chronic rhinosinusitis with nasal polyposis in egpa a real life multidimensional analysis through mepolizumab dosing and role of adjunctive endoscopic sinus surgery ess

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Chronic Rhinosinusitis With Nasal Polyposis in EGPA: A Real-Life Multidimensional Analysis Through Mepolizumab Dosing and Role of Adjunctive Endoscopic Sinus Surgery (ESS).”

lysosomal storage disease lysosomal lipid storage disorder+1 moreResearch

AskBio Doses First Patient in Phase 1/2 Gene Therapy Trial for Late-Onset Pompe Disease | BioPharm International

Gene & Cell Therapy·6 months ago·Read at source →

inherited renal tubular diseaseResearch

Opus Genetics Reports Q1 2026 Results, Advances Gene Therapy Pipeline for Inherited Retinal Diseases and Secures Funding Through 2029 12 – Minichart

Gene & Cell Therapy·6 months ago·Read at source →

chronic hepatitis B virus infection hepatitis B virus infectionResearch

A multicenter longitudinal study analyzed the clinical course and outcomes of 248 pediatric patients with chronic hepatitis B. The findings provide valuable insights into disease progression and management strategies for this population.

clinical course and outcomes of paediatric chronic hepatitis b insights from a multicenter longitudinal cohort of 248 patients

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Clinical Course and Outcomes of Paediatric Chronic Hepatitis B: Insights From a Multicenter Longitudinal Cohort of 248 Patients.”

POEMS syndromeResearch

The academic CAR-T therapy ARI0002h demonstrates a minimal residual disease (MRD)-negative remission in patients with relapsed POEMS syndrome, showing a significant response correlated with sBCMA biomarker levels. This advancement could pave the way for new treatment strategies in this rare condition.

academic bcma car t ari0002h achieves mrd negative remission with sbcma biomarker response in relapsed poems syndrome after double asct

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Academic BCMA CAR-T (ARI0002h) achieves MRD-negative remission with sBCMA biomarker response in relapsed POEMS syndrome after double ASCT.”

neutropenia immunodeficiency 87 and autoimmunity+1 moreResearch

Recent research identifies autosomal dominant gain-of-function mutations in the LCP1 gene as the cause of a new syndromic neutropenia and immunodeficiency. This discovery enhances understanding of the genetic basis for these conditions and may inform future therapeutic strategies.

autosomal dominant gain of function mutations in lcp1 cause a syndromic neutropenia and immunodeficiency

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.”

Previous309 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A scoping review examines the impact of orthopedic surgery on activities of daily living and quality of life in patients with haemophilic arthropathy. This research highlights the need for improved postoperative care strategies to enhance patient outcomes.

A study highlights the diagnostic challenges posed by the calreticulin type 26 mutation in myelofibrosis, a rare variant that complicates accurate diagnosis. Understanding this mutation is crucial for improving patient outcomes in myelofibrosis.

Research indicates that semaglutide reduces neuroinflammation and cognitive impairment in APP/PS1 mouse models, suggesting potential therapeutic effects for Alzheimer's disease. This study contributes to the understanding of semaglutide's broader applications beyond diabetes management.

A recent publication discusses the challenges and opportunities in RNA regulation for developing RNA-based therapies in Europe. The insights could inform future research directions and therapeutic strategies in rare diseases.

Recent research sheds light on the connections between resistant hypertension, hyperaldosteronism, and hypercortisolism, enhancing the understanding of these conditions. This emerging knowledge could inform future therapeutic strategies and patient management.

Research indicates that carboplatin can reduce neurotoxicity caused by TDP-43 in astrocytes by inhibiting NF-κB activation. This discovery may have implications for therapeutic strategies targeting neurodegenerative diseases associated with TDP-43 pathology.

A study from the SPRING registry reveals clinical and serological features of triple autoantibody-negative patients with systemic sclerosis. This research enhances understanding of this subset of patients, which may inform future therapeutic strategies.

A recent study published in PubMed discusses the surgical management of pediatric brachial plexus lipoma, highlighting techniques and outcomes. This research contributes to the understanding of treatment options for this rare condition.

A new study discusses the repair of a unicuspid aortic valve using root stabilization techniques. This research contributes to the understanding of surgical options for patients with this specific heart valve anomaly.

A case report details mitral valve endocarditis associated with Kodamaea ohmeri, leading to septic embolism in the right femoral artery. This highlights the need for awareness of rare fungal infections in endocarditis cases.

A case study highlights a fatal instance of esophageal adenocarcinoma in a pregnant woman, initially misdiagnosed as gestational hyperemesis. This research underscores the importance of accurate diagnosis in pregnant patients presenting with gastrointestinal symptoms.

A U.S. population-based study reveals prevalence and patterns of unexpected lucidity in deeply forgetful patients, contributing to the understanding of cognitive function in dementia. These findings may influence future research and therapeutic approaches.

A new study investigates the tensile mechanics of human lung parenchyma and how smoking affects these properties. This research could provide insights into lung diseases related to smoking.

AskBio Doses First Patient in Phase 1/2 Gene Therapy Trial for Late-Onset Pompe Disease | BioPharm International

Opus Genetics Reports Q1 2026 Results, Advances Gene Therapy Pipeline for Inherited Retinal Diseases and Secures Funding Through 2029 12 – Minichart

A multicenter longitudinal study analyzed the clinical course and outcomes of 248 pediatric patients with chronic hepatitis B. The findings provide valuable insights into disease progression and management strategies for this population.

Recent research identifies autosomal dominant gain-of-function mutations in the LCP1 gene as the cause of a new syndromic neutropenia and immunodeficiency. This discovery enhances understanding of the genetic basis for these conditions and may inform future therapeutic strategies.

Not rare diseases news,
news about your rare disease.