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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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Huntington disease Huntington disease-like 3+1 moreResearch

With $97M, Latus pursues a different kind of Huntington’s gene therapy

BioPharma Dive·6 months ago·Read at source →

Research

Gene therapy’s evidence problem—lessons from recent FDA decisions

BioSpace·6 months ago·Read at source →

inherited renal tubular diseaseResearch

How a vision-restoring gene therapy proved that we can treat inherited diseases | Scientific American

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

pancreatitis chronic pancreatitisResearch

A study compares serum pancreatic lipase activity and immunoreactivity in cats suspected of pancreatitis, providing insights into clinical signs associated with the disease. This research may enhance diagnostic approaches for feline pancreatitis.

express longitudinal comparison of serum pancreatic lipase activity and pancreatic lipase immunoreactivity with clinical signs in cats with suspicion of pancreatitis

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

Original title: “EXPRESS: Longitudinal comparison of serum pancreatic lipase activity and pancreatic lipase immunoreactivity with clinical signs in cats with suspicion of pancreatitis.”

transient ischemic attackResearch

A case report highlights diagnostic challenges in a 78-year-old woman with internal carotid artery fenestration presenting with a transient ischemic attack. This study underscores the complexities in diagnosing vascular anomalies in elderly patients.

diagnostic challenges in internal carotid artery fenestration a 78 year old woman presenting with transient ischemic attack a case report

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

Original title: “Diagnostic challenges in internal carotid artery fenestration: a 78-year-old woman presenting with transient ischemic attack-a case report.”

Research

A recent study highlights regional differences in the treatment of Parkinson's disease between the Baltic States and Germany. The findings may inform future treatment approaches and healthcare policies in these regions.

regional features in the treatment of parkinson s disease in the baltic states compared to germany

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

Original title: “Regional features in the treatment of Parkinson's disease in the Baltic States compared to Germany.”

polycystic kidney disease 4 chronic kidney disease+1 moreResearch

A case report highlights the implications of a single APOL1 G2 allele combined with a protective N264K variant in a child with kidney disease. This study contributes to understanding genetic factors influencing kidney disease risk.

case report of a child with kidney disease consideration of the risk of a single apol1 g2 allele with a protective n264k variant on the g0 parental chromosome

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

Original title: “Case report of a child with kidney disease: consideration of the risk of a single APOL1 G2 allele with a protective N264K variant on the G0 parental chromosome.”

glycogen storage disease III glycogen storage disease IIResearch

A new study analyzes gait in patients with glycogen storage disease type III, providing insights that could enhance clinical trial design. The findings may help in developing more effective therapeutic strategies for this rare condition.

prospective gait analysis in patients from the french registry of glycogen storage disease type iii implications for clinical trials

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

Original title: “Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.”

Research

A new study emphasizes the need for diversity in blood group genotyping to enhance transfusion safety. High-throughput microarray technology could significantly improve matching and reduce adverse reactions.

calling for diversity improving transfusion safety through high throughput blood group microarray genotyping

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

Original title: “Calling for Diversity: Improving Transfusion Safety Through High-Throughput Blood Group Microarray Genotyping.”

primary lymphoma of the conjunctiva primary bone lymphoma+1 moreResearch

A case study highlights primary lymphoma of the acromion as a rare cause of isolated shoulder pain. This discovery emphasizes the need for awareness of atypical presentations in lymphoma diagnosis.

primary lymphoma of the acromion presenting with isolated shoulder pain

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

Original title: “Primary lymphoma of the acromion presenting with isolated shoulder pain.”

amyopathic dermatomyositis clinically amyopathic dermatomyositis+1 moreResearch

A recent study highlights the occurrence of peripheral eosinophilia in patients with amyopathic dermatomyositis, suggesting potential diagnostic and therapeutic implications. This atypical presentation may influence clinical management strategies for this rare condition.

peripheral eosinophilia in amyopathic dermatomyositis an atypical presentation with diagnostic and therapeutic implications

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

Original title: “Peripheral eosinophilia in amyopathic dermatomyositis: an atypical presentation with diagnostic and therapeutic implications.”

Leigh syndrome Leigh syndrome with cardiomyopathy+1 moreResearch

A recent study highlights β-ureidopropionase deficiency presenting symptoms similar to Leigh syndrome, alongside methylmalonic aciduria. This discovery may aid in better diagnosis and understanding of these rare metabolic disorders.

ureidopropionase deficiency mimicking leigh syndrome associated with methylmalonic aciduria

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

Original title: “β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.”

thrombocytopenia Paris-Trousseau thrombocytopenia+1 moreResearch

A recent case series highlights the complexities in diagnosing and managing thrombocytopenia and thrombocytopathy. The findings emphasize the need for improved diagnostic strategies to better address these conditions.

navigating the diagnostic and clinical spectrum of thrombocytopenia and thrombocytopathy lessons from a case series

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

Original title: “Navigating the Diagnostic and Clinical Spectrum of Thrombocytopenia and Thrombocytopathy: Lessons from a Case Series.”

Research

A new roadmap outlines strategies for advancing the development of advanced therapy medicinal products (ATMPs) within Europe. This framework aims to enhance collaboration and streamline processes for bringing innovative therapies to market.

roadmap for supporting the development of advanced therapy medicinal products in a european framework

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

Original title: “A roadmap for supporting the development of advanced therapy medicinal products in a European framework.”

long COVID-19Research

A recent study identifies distinct immune-metabolic trajectories in pediatric long COVID, highlighting subgroups that may require tailored therapeutic approaches. This research enhances understanding of long COVID in children and could inform future treatment strategies.

immune metabolic trajectories delineate subgroups in paediatric long covid

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

Original title: “Immune-metabolic trajectories delineate subgroups in paediatric long COVID.”

Research

A recent observational study from the Amsterdam UMC Centre for Tropical Medicine analyzes outbreak signals from 2013 to 2024. The findings contribute to understanding disease patterns and improving response strategies in tropical medicine.

analysing outbreak signals 2013 2024 the amsterdam umc centre for tropical medicine and travel medicine epi alert programme an observational study

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

Original title: “Analysing outbreak signals, 2013-2024: The amsterdam UMC centre for Tropical Medicine and Travel Medicine Epi Alert programme - an observational study.”

pheochromocytoma adrenal gland pheochromocytoma+1 moreResearch

A study published in PubMed analyzes the incidence of pheochromocytoma and paraganglioma, comparing familial and sporadic cases at a single center in Portugal. The findings contribute to understanding the epidemiology of these rare tumors.

pheochromocytoma and paraganglioma incidence and comparative analysis between familial and sporadic cases in a portuguese single center

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

Original title: “Pheochromocytoma and Paraganglioma: Incidence and Comparative Analysis Between Familial and Sporadic Cases in a Portuguese Single Center.”

thyroid gland oncocytic adenomaResearch

A study involving 260 patients with oncocytic thyroid cancer reveals insights into recurrence rates and survival based on initial treatment responses. This single-institution experience contributes valuable data to the understanding of this rare cancer type.

recurrence rate and survival in 260 patients with oncocytic thyroid cancer according to response to initial treatment a single institution experience

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

Original title: “Recurrence Rate and Survival in 260 Patients With Oncocytic Thyroid Cancer According to Response to Initial Treatment - A Single-Institution Experience.”

hematuria, benign familial hematuria, benign familial, 1+1 moreResearch

A case report highlights the successful treatment of essential renal bleeding presenting as persistent unilateral hematuria using factor XIII replacement therapy. This case adds to the understanding of treatment options for patients experiencing this rare condition.

essential renal bleeding presenting as persistent unilateral hematuria successfully treated with factor xiii replacement therapy a case report

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

Original title: “Essential Renal Bleeding Presenting as Persistent Unilateral Hematuria Successfully Treated With Factor XIII Replacement Therapy: A Case Report.”

cholesteatoma maxillary sinus cholesteatoma+1 moreResearch

A case report details extensive temporal bone necrosis in a patient with petrous bone cholesteatoma complicated by actinomycosis. This study contributes to the understanding of rare complications associated with cholesteatoma.

extensive temporal bone necrosis in petrous bone cholesteatoma complicated by actinomycosis a case report

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

Original title: “Extensive Temporal Bone Necrosis in Petrous Bone Cholesteatoma Complicated by Actinomycosis: A Case Report.”

Previous327 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

With $97M, Latus pursues a different kind of Huntington’s gene therapy

Gene therapy’s evidence problem—lessons from recent FDA decisions

How a vision-restoring gene therapy proved that we can treat inherited diseases | Scientific American

A study compares serum pancreatic lipase activity and immunoreactivity in cats suspected of pancreatitis, providing insights into clinical signs associated with the disease. This research may enhance diagnostic approaches for feline pancreatitis.

A case report highlights diagnostic challenges in a 78-year-old woman with internal carotid artery fenestration presenting with a transient ischemic attack. This study underscores the complexities in diagnosing vascular anomalies in elderly patients.

A recent study highlights regional differences in the treatment of Parkinson's disease between the Baltic States and Germany. The findings may inform future treatment approaches and healthcare policies in these regions.

A case report highlights the implications of a single APOL1 G2 allele combined with a protective N264K variant in a child with kidney disease. This study contributes to understanding genetic factors influencing kidney disease risk.

A new study analyzes gait in patients with glycogen storage disease type III, providing insights that could enhance clinical trial design. The findings may help in developing more effective therapeutic strategies for this rare condition.

A new study emphasizes the need for diversity in blood group genotyping to enhance transfusion safety. High-throughput microarray technology could significantly improve matching and reduce adverse reactions.

A case study highlights primary lymphoma of the acromion as a rare cause of isolated shoulder pain. This discovery emphasizes the need for awareness of atypical presentations in lymphoma diagnosis.

A recent study highlights the occurrence of peripheral eosinophilia in patients with amyopathic dermatomyositis, suggesting potential diagnostic and therapeutic implications. This atypical presentation may influence clinical management strategies for this rare condition.

A recent study highlights β-ureidopropionase deficiency presenting symptoms similar to Leigh syndrome, alongside methylmalonic aciduria. This discovery may aid in better diagnosis and understanding of these rare metabolic disorders.

A recent case series highlights the complexities in diagnosing and managing thrombocytopenia and thrombocytopathy. The findings emphasize the need for improved diagnostic strategies to better address these conditions.

A new roadmap outlines strategies for advancing the development of advanced therapy medicinal products (ATMPs) within Europe. This framework aims to enhance collaboration and streamline processes for bringing innovative therapies to market.

A recent study identifies distinct immune-metabolic trajectories in pediatric long COVID, highlighting subgroups that may require tailored therapeutic approaches. This research enhances understanding of long COVID in children and could inform future treatment strategies.

A recent observational study from the Amsterdam UMC Centre for Tropical Medicine analyzes outbreak signals from 2013 to 2024. The findings contribute to understanding disease patterns and improving response strategies in tropical medicine.

A study published in PubMed analyzes the incidence of pheochromocytoma and paraganglioma, comparing familial and sporadic cases at a single center in Portugal. The findings contribute to understanding the epidemiology of these rare tumors.

A study involving 260 patients with oncocytic thyroid cancer reveals insights into recurrence rates and survival based on initial treatment responses. This single-institution experience contributes valuable data to the understanding of this rare cancer type.

A case report highlights the successful treatment of essential renal bleeding presenting as persistent unilateral hematuria using factor XIII replacement therapy. This case adds to the understanding of treatment options for patients experiencing this rare condition.

A case report details extensive temporal bone necrosis in a patient with petrous bone cholesteatoma complicated by actinomycosis. This study contributes to the understanding of rare complications associated with cholesteatoma.

Not rare diseases news,
news about your rare disease.