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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 report details the first neonatal bloodstream infection caused by Malassezia furfur in mainland China, diagnosed using metagenomic next-generation sequencing. This finding highlights the potential of advanced sequencing technologies in identifying rare infections.

first case of neonatal bloodstream infection caused by malassezia furfur in mainland china diagnosed via metagenomic next generation sequencing a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “First case of neonatal bloodstream infection caused by Malassezia furfur in mainland China diagnosed via metagenomic next-generation sequencing: A case report.”

Research

A review highlights the applications of Model-Informed Drug Development (MIDD) in analgesics, focusing on regulatory integration and future directions. This approach aims to enhance drug development efficiency and effectiveness.

model informed drug development midd for analgesics review of applications regulatory integration and emerging directions

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Model-Informed Drug Development (MIDD) for Analgesics: Review of Applications, Regulatory Integration, and Emerging Directions.”

HIV-associated nephropathy HIV wasting syndrome+1 moreResearch

A case report highlights bilateral pathological femoral fractures in a woman with HIV, attributed to long-term use of tenofovir disoproxil fumarate leading to osteomalacia. This finding underscores the need for monitoring bone health in patients on this medication.

bilateral pathological femoral fractures secondary to long term tenofovir disoproxil fumarate induced osteomalacia in a woman living with hiv a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Bilateral Pathological Femoral Fractures Secondary to Long-Term Tenofovir Disoproxil Fumarate-Induced Osteomalacia in a Woman Living with HIV: A Case Report.”

Research

A study published in PubMed highlights the incidental detection of enterogastric bile reflux during 99mTc-sestamibi myocardial perfusion imaging. This finding may have implications for understanding gastrointestinal complications in cardiac patients.

incidental detection of enterogastric bile reflux in 99mtc sestamibi myocardial perfusion imaging

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Incidental Detection of Enterogastric Bile Reflux in 99mTc-Sestamibi Myocardial Perfusion Imaging.”

Research

A retrospective observational study evaluates the efficacy of trifluridine/tipiracil with or without bevacizumab in patients with microsatellite instability-high/mismatch repair-deficient metastatic colorectal cancer. The findings contribute to understanding treatment options for this specific cancer subtype.

trifluridine tipiracil with or without bevacizumab in microsatellite instability high mismatch repair deficient metastatic colorectal cancer a retrospective observational study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Trifluridine/tipiracil with or without bevacizumab in microsatellite instability-high/mismatch repair-deficient metastatic colorectal cancer: A retrospective observational study.”

Research

A recent study published in PubMed provides real-world evidence on the safety of allergen immunotherapy, contributing to the understanding of its risk profile in diverse patient populations. This research is crucial for clinicians and stakeholders involved in allergy treatment.

safety of allergen immunotherapy real world evidence

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Safety of allergen immunotherapy: real-world evidence.”

Dubin-Johnson syndromeResearch

A case report highlights a rare diagnosis of Dubin-Johnson syndrome during pregnancy, contributing to the understanding of this genetic condition. This case underscores the importance of awareness and diagnosis in unique clinical scenarios.

rare diagnosis of dubin johnson syndrome during pregnancy a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Rare Diagnosis of Dubin-Johnson Syndrome During Pregnancy: A Case Report.”

desmoid tumorResearch

A new noninvasive treatment strategy using high-intensity focused ultrasound shows promise for abdominal wall desmoid tumors. This approach may offer an alternative to traditional surgical methods.

noninvasive treatment strategy for abdominal wall desmoid tumors applying high intensity focused ultrasound

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Noninvasive treatment strategy for abdominal wall desmoid tumors applying high-intensity focused ultrasound.”

paraganglioma pheochromocytoma/paraganglioma syndrome 5+1 moreResearch

A case report details imaging findings of an exophytic urinary bladder paraganglioma that mimics a gynecological mass. This discovery may enhance diagnostic accuracy for similar presentations in clinical practice.

imaging findings of an exophytic urinary bladder paraganglioma mimicking a gynecological mass a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Imaging Findings of an Exophytic Urinary Bladder Paraganglioma Mimicking a Gynecological Mass: A Case Report.”

primary central nervous system vasculitis rapidly progressive primary central nervous system vasculitisResearch

New French guidelines have been published for the diagnosis and management of primary central nervous system vasculitis. These guidelines aim to standardize care and improve outcomes for patients with this rare condition.

french guidelines for the diagnosis and management of primary central nervous system vasculitis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “French guidelines for the diagnosis and management of primary central nervous system vasculitis.”

immune-mediated necrotizing myopathyResearch

A cohort study involving 23 patients has been conducted to investigate seropositive immune-mediated necrotizing myopathy. The findings may provide insights into the disease's characteristics and potential treatment approaches.

cohort study of 23 patients with seropositive immune mediated necrotizing myopathy

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Cohort study of 23 patients with seropositive immune-mediated necrotizing myopathy.”

Research

The British Society for Genetic Medicine has released guidance on managing incidental findings from genomic testing in rare diseases. This guidance aims to standardize the approach to handling unexpected results that may arise during genetic evaluations.

british society for genetic medicine guidance on managing incidental findings identified during rare disease genomic testing

PubMed Rare Disease·3 months ago·Read at source →

Original title: “The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.”

Research

A recent study outlines the development of consensus on rare disease care pathways and the integration of European Reference Networks (ERNs). Insights were gathered from stakeholder workshops and a Delphi study, highlighting the need for standardized approaches in rare disease management.

developing consensus on rare disease care pathways and ern integration across europe insights from stakeholder workshops and a delphi study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study.”

scleroderma localized scleroderma+1 moreResearch

Recent research highlights the occurrence of scleroderma renal crisis in patients with mixed connective tissue disease, providing new insights into this rare complication. Understanding this association may improve clinical management and patient outcomes.

scleroderma renal crisis in mixed connective tissue disease

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Scleroderma Renal Crisis in Mixed Connective Tissue Disease.”

Research

A retrospective case series of 18 patients demonstrates the potential of omalizumab-based therapy for treating normocomplementemic urticarial vasculitis. This study adds to the understanding of treatment options for this rare condition.

omalizumab based therapy in normocomplementemic urticarial vasculitis a retrospective case series of 18 patients

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Omalizumab-based therapy in normocomplementemic urticarial vasculitis: a retrospective case series of 18 patients.”

inflammatory myofibroblastic tumor liver inflammatory myofibroblastic tumor+1 moreResearch

A recent study published in PubMed highlights the use of FDG-PET/CT for detecting inflammatory myofibroblastic tumors in the testis, showcasing a rare presentation of this neoplasm. This research contributes to the understanding of diagnostic approaches for rare tumors.

detection of an inflammatory myofibroblastic tumor in the testis by fdg pet ct a rare presentation of a rare neoplasm

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Detection of an inflammatory myofibroblastic tumor in the testis by FDG-PET/CT; a rare presentation of a rare neoplasm.”

primary progressive aphasia logopenic progressive aphasia+1 moreResearch

A recent survey study highlights the current state of speech and language therapy for individuals with primary progressive aphasia (PPA) in Germany. The findings aim to improve care strategies and inform future research in this area.

mapping ppa care results of a survey study on speech and language therapy for people with primary progressive aphasia across germany

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Mapping PPA Care: Results of a Survey Study on Speech and Language Therapy for People With Primary Progressive Aphasia Across Germany.”

Research

Recent research published in PubMed highlights clinical responses to Tarlatamab in patients with pulmonary carcinoid tumors. The study provides insights into the efficacy of this treatment option for a rare neuroendocrine tumor.

clinical responses to tarlatamab among patients with pulmonary carcinoid

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Clinical Responses to Tarlatamab Among Patients with Pulmonary Carcinoid.”

Research

A recent study on Bundibugyo virus disease explores its transmission dynamics, infectiousness, and viral persistence. The findings contribute to understanding the disease's epidemiology and potential control measures.

bundibugyo virus disease transmission dynamics infectiousness and viral persistence

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Bundibugyo virus disease: transmission dynamics, infectiousness and viral persistence.”

multiple system atrophy multiple system atrophy, parkinsonian typeResearch

Recent research highlights the complexities of multiple system atrophy, a rare neurodegenerative disorder. The study provides insights into potential biomarkers and therapeutic targets for this challenging condition.

multiple system atrophy

PubMed Rare Disease·3 months ago·Read at source →

Original title: “[Multiple system atrophy].”

Previous181 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report details the first neonatal bloodstream infection caused by Malassezia furfur in mainland China, diagnosed using metagenomic next-generation sequencing. This finding highlights the potential of advanced sequencing technologies in identifying rare infections.

A review highlights the applications of Model-Informed Drug Development (MIDD) in analgesics, focusing on regulatory integration and future directions. This approach aims to enhance drug development efficiency and effectiveness.

A case report highlights bilateral pathological femoral fractures in a woman with HIV, attributed to long-term use of tenofovir disoproxil fumarate leading to osteomalacia. This finding underscores the need for monitoring bone health in patients on this medication.

A study published in PubMed highlights the incidental detection of enterogastric bile reflux during 99mTc-sestamibi myocardial perfusion imaging. This finding may have implications for understanding gastrointestinal complications in cardiac patients.

A recent study published in PubMed provides real-world evidence on the safety of allergen immunotherapy, contributing to the understanding of its risk profile in diverse patient populations. This research is crucial for clinicians and stakeholders involved in allergy treatment.

A case report highlights a rare diagnosis of Dubin-Johnson syndrome during pregnancy, contributing to the understanding of this genetic condition. This case underscores the importance of awareness and diagnosis in unique clinical scenarios.

A new noninvasive treatment strategy using high-intensity focused ultrasound shows promise for abdominal wall desmoid tumors. This approach may offer an alternative to traditional surgical methods.

A case report details imaging findings of an exophytic urinary bladder paraganglioma that mimics a gynecological mass. This discovery may enhance diagnostic accuracy for similar presentations in clinical practice.

New French guidelines have been published for the diagnosis and management of primary central nervous system vasculitis. These guidelines aim to standardize care and improve outcomes for patients with this rare condition.

A cohort study involving 23 patients has been conducted to investigate seropositive immune-mediated necrotizing myopathy. The findings may provide insights into the disease's characteristics and potential treatment approaches.

The British Society for Genetic Medicine has released guidance on managing incidental findings from genomic testing in rare diseases. This guidance aims to standardize the approach to handling unexpected results that may arise during genetic evaluations.

A recent study outlines the development of consensus on rare disease care pathways and the integration of European Reference Networks (ERNs). Insights were gathered from stakeholder workshops and a Delphi study, highlighting the need for standardized approaches in rare disease management.

Recent research highlights the occurrence of scleroderma renal crisis in patients with mixed connective tissue disease, providing new insights into this rare complication. Understanding this association may improve clinical management and patient outcomes.

A retrospective case series of 18 patients demonstrates the potential of omalizumab-based therapy for treating normocomplementemic urticarial vasculitis. This study adds to the understanding of treatment options for this rare condition.

A recent study published in PubMed highlights the use of FDG-PET/CT for detecting inflammatory myofibroblastic tumors in the testis, showcasing a rare presentation of this neoplasm. This research contributes to the understanding of diagnostic approaches for rare tumors.

A recent survey study highlights the current state of speech and language therapy for individuals with primary progressive aphasia (PPA) in Germany. The findings aim to improve care strategies and inform future research in this area.

Recent research published in PubMed highlights clinical responses to Tarlatamab in patients with pulmonary carcinoid tumors. The study provides insights into the efficacy of this treatment option for a rare neuroendocrine tumor.

A recent study on Bundibugyo virus disease explores its transmission dynamics, infectiousness, and viral persistence. The findings contribute to understanding the disease's epidemiology and potential control measures.

Recent research highlights the complexities of multiple system atrophy, a rare neurodegenerative disorder. The study provides insights into potential biomarkers and therapeutic targets for this challenging condition.

Not rare diseases news,
news about your rare disease.