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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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endometrial carcinoma endometrial undifferentiated carcinoma+1 moreResearch

Research reveals that endometrial carcinomas with a yolk sac tumor component exhibit molecular similarities to p53-abnormal endometrial carcinomas and germ cell tumors. This finding could inform future therapeutic strategies and diagnostics.

endometrial carcinomas with a somatically derived yolk sac tumor component share molecular similarities to p53 abnormal endometrial carcinomas and germ cell tumors

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Endometrial Carcinomas With a Somatically-derived Yolk Sac Tumor Component Share Molecular Similarities to p53-abnormal Endometrial Carcinomas and Germ Cell Tumors.”

renal cell carcinoma nonpapillary renal cell carcinoma+1 moreResearch

A study analyzes 35 cases of ELOC-mutated renal cell carcinoma, providing insights into its clinicopathologic features and molecular genetics. This research enhances understanding of this rare cancer subtype, potentially guiding future therapeutic strategies.

eloc mutated renal cell carcinoma clinicopathologic immunohistochemical and molecular genetic analysis of 35 cases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “ELOC-mutated Renal Cell Carcinoma: Clinicopathologic, Immunohistochemical, and Molecular Genetic Analysis of 35 Cases.”

chronic graft versus host diseaseResearch

A new proposal outlines diagnostic criteria for chronic graft-versus-host disease manifestations in the peripheral nervous system and muscles. This initiative aims to enhance the understanding and diagnosis of this complex condition.

proposal for diagnostic criteria for manifestations of chronic graft versus host disease in peripheral nervous system and muscles

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Proposal for Diagnostic Criteria for Manifestations of Chronic Graft-versus-Host Disease in Peripheral Nervous System and Muscles.”

infective endocarditisResearch

A recent study investigates antibiotic tolerance and safety in older patients with infective endocarditis, highlighting the unique challenges this population faces. The findings aim to improve treatment strategies for this serious condition.

antibiotic tolerance and safety in infective endocarditis a focus on older patients

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Antibiotic tolerance and safety in infective endocarditis: A focus on older patients.”

malignant struma ovariiResearch

Recent research highlights advances in understanding the molecular pathogenesis and classification of malignant struma ovarii, which may improve diagnosis and treatment strategies. This study provides insights into the complexities of this rare ovarian tumor.

malignant struma ovarii advances in molecular pathogenesis classification diagnosis and treatment

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Malignant struma ovarii: Advances in molecular pathogenesis, classification, diagnosis and treatment.”

Research

A recent report highlights patient mortality associated with delandistrogene moxeparvovec, prompting expert committee recommendations for future risk mitigation and management strategies. The findings underscore the need for careful monitoring in gene therapy applications.

learnings from patient mortality after delandistrogene moxeparvovec administration a report of two cases and expert committee considerations for future mitigation and management

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and Management.”

rhabdomyosarcomaResearch

A case report highlights a rapid early response to VAC chemotherapy in an adolescent with metastatic primary intratesticular rhabdomyosarcoma. The literature review encompasses 99 cases, providing insights into treatment efficacy.

metastatic primary intratesticular rhabdomyosarcoma in an adolescent with rapid early response to vac chemotherapy a case report and literature review of 99 cases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Metastatic Primary Intratesticular Rhabdomyosarcoma in an Adolescent with Rapid Early Response to VAC Chemotherapy: A Case Report and Literature Review of 99 Cases.”

Research

A descriptive study highlights the prevalence of effective contraceptive use among patients with rheumatic diseases. The findings may inform healthcare providers about reproductive health considerations in this patient population.

prevalence of effective contraceptive use among patients with rheumatic diseases a descriptive study

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Prevalence of effective contraceptive use among patients with rheumatic diseases: a descriptive study.”

Research

A study identifies genetic findings in ten Ecuadorian patients suspected of having Wilson's disease, contributing to the understanding of this rare condition. The research highlights the genetic diversity and potential mutations associated with Wilson's disease in this population.

genetic findings in ten ecuadorian patients with suspected wilson s disease

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.”

hereditary angioedemaResearch

A multinational survey highlights the significant burden of hereditary angioedema on caregivers of both adult and pediatric patients. The findings underscore the need for improved support and resources for families affected by this rare condition.

burden of hereditary angioedema results from a multinational survey of caregivers for adult and pediatric patients

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Burden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.”

Research

The upcoming Rare Kidney Disease Conference in December 2024 will focus on the latest research and advancements in the field. This event aims to bring together experts to discuss innovative approaches and findings related to rare kidney diseases.

rare kidney disease conference proceedings palm springs december 2024

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Rare Kidney Disease Conference Proceedings; Palm Springs December 2024.”

Research

Pelage is advancing its hair loss candidate, building on positive data from last year that generated significant interest. The company aims to demonstrate the scientific foundation of its breakthrough approach to hair loss treatment.

A rapturous response to data published last year for Pelage’s hair loss candidate overwhelmed the biotech. Now, the company is ready to show the world the science behind the breakthrough.

BioSpace·9 months ago·Read at source →

Original title: “‘We’re Scientists’: Pelage Takes Hair Loss Beyond ‘Lotions And Potions’”

Research

A study identifies a type I interferon signature linked to lung disease and immune reactions in Still's disease, highlighting genetic variations in interferon pathways. This research may inform future therapeutic strategies for managing Still's disease.

type i interferon signature associates with lung disease drug associated immune reactions and genetic variation in interferon linked pathways in still s disease

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Type I interferon signature associates with lung disease, drug-associated immune reactions, and genetic variation in interferon-linked pathways in Still's disease.”

Research

A study identifies the SMURF2 p.T183M variant as a common link among four autoimmune diseases, suggesting a fibrosis-prone immune endotype. This discovery could pave the way for targeted therapies in these conditions.

smurf2 p t183m variant linking four autoimmune diseases through a fibrosis prone immune endotype

PubMed Rare Disease·9 months ago·Read at source →

Original title: “A SMURF2 p.T183M variant linking four autoimmune diseases through a fibrosis-prone immune endotype.”

Research

A case report highlights postoperative junctional ectopic tachycardia with variable QRS morphology, providing insights into its clinical presentation and management. This rare cardiac condition may inform future research and treatment approaches.

postoperative junctional ectopic tachycardia with variable qrs morphology a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Postoperative junctional ectopic tachycardia with variable QRS morphology: A case report.”

Research

A systematic review and network meta-analysis evaluates enzyme replacement therapy versus best supportive care for Pompe disease. The findings contribute to understanding treatment efficacy and may influence future clinical guidelines.

enzyme replacement therapy compared with best supportive care for the treatment of pompe disease a systematic review and network meta analysis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.”

Research

A new RNA-guided workflow enhances rare disease diagnostics by effectively linking DNA and RNA data. This innovative approach aims to improve the accuracy and speed of identifying rare genetic conditions.

accelerating rare disease diagnostics by linking dna and rna through an explainable and interactive rna guided workflow

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.”

Research

A recent study published in PubMed discusses multiple hyalinizing granulomas that can mimic pulmonary malignancy. This research highlights the need for accurate diagnosis to differentiate these granulomas from cancerous lesions.

multiple hyalinizing granulomas mimicking pulmonary malignancy

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Multiple hyalinizing granulomas mimicking pulmonary malignancy.”

Research

Research identifies RAB3GAP2 as a key regulator of skeletal muscle endothelial cell proliferation, impacting the capillary-to-fiber ratio. This discovery could have implications for understanding muscle-related diseases.

rab3gap2 is a regulator of skeletal muscle endothelial cell proliferation and associated with capillary to fiber ratio

PubMed Rare Disease·9 months ago·Read at source →

Original title: “RAB3GAP2 is a regulator of skeletal muscle endothelial cell proliferation and associated with capillary-to-fiber ratio.”

disseminated autoimmune glomerulonephritisResearch

A case report highlights disseminated bartonellosis presenting as autoimmune glomerulonephritis, emphasizing the need for differential diagnosis in similar cases. This finding could impact clinical approaches to diagnosing kidney-related symptoms.

disseminated bartonellosis masquerading as autoimmune glomerulonephritis a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Disseminated Bartonellosis Masquerading as Autoimmune Glomerulonephritis: A Case Report.”

Previous464 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Research reveals that endometrial carcinomas with a yolk sac tumor component exhibit molecular similarities to p53-abnormal endometrial carcinomas and germ cell tumors. This finding could inform future therapeutic strategies and diagnostics.

A study analyzes 35 cases of ELOC-mutated renal cell carcinoma, providing insights into its clinicopathologic features and molecular genetics. This research enhances understanding of this rare cancer subtype, potentially guiding future therapeutic strategies.

A new proposal outlines diagnostic criteria for chronic graft-versus-host disease manifestations in the peripheral nervous system and muscles. This initiative aims to enhance the understanding and diagnosis of this complex condition.

A recent study investigates antibiotic tolerance and safety in older patients with infective endocarditis, highlighting the unique challenges this population faces. The findings aim to improve treatment strategies for this serious condition.

Recent research highlights advances in understanding the molecular pathogenesis and classification of malignant struma ovarii, which may improve diagnosis and treatment strategies. This study provides insights into the complexities of this rare ovarian tumor.

A recent report highlights patient mortality associated with delandistrogene moxeparvovec, prompting expert committee recommendations for future risk mitigation and management strategies. The findings underscore the need for careful monitoring in gene therapy applications.

A case report highlights a rapid early response to VAC chemotherapy in an adolescent with metastatic primary intratesticular rhabdomyosarcoma. The literature review encompasses 99 cases, providing insights into treatment efficacy.

A descriptive study highlights the prevalence of effective contraceptive use among patients with rheumatic diseases. The findings may inform healthcare providers about reproductive health considerations in this patient population.

A study identifies genetic findings in ten Ecuadorian patients suspected of having Wilson's disease, contributing to the understanding of this rare condition. The research highlights the genetic diversity and potential mutations associated with Wilson's disease in this population.

A multinational survey highlights the significant burden of hereditary angioedema on caregivers of both adult and pediatric patients. The findings underscore the need for improved support and resources for families affected by this rare condition.

The upcoming Rare Kidney Disease Conference in December 2024 will focus on the latest research and advancements in the field. This event aims to bring together experts to discuss innovative approaches and findings related to rare kidney diseases.

Pelage is advancing its hair loss candidate, building on positive data from last year that generated significant interest. The company aims to demonstrate the scientific foundation of its breakthrough approach to hair loss treatment.

A study identifies a type I interferon signature linked to lung disease and immune reactions in Still's disease, highlighting genetic variations in interferon pathways. This research may inform future therapeutic strategies for managing Still's disease.

A study identifies the SMURF2 p.T183M variant as a common link among four autoimmune diseases, suggesting a fibrosis-prone immune endotype. This discovery could pave the way for targeted therapies in these conditions.

A case report highlights postoperative junctional ectopic tachycardia with variable QRS morphology, providing insights into its clinical presentation and management. This rare cardiac condition may inform future research and treatment approaches.

A systematic review and network meta-analysis evaluates enzyme replacement therapy versus best supportive care for Pompe disease. The findings contribute to understanding treatment efficacy and may influence future clinical guidelines.

A new RNA-guided workflow enhances rare disease diagnostics by effectively linking DNA and RNA data. This innovative approach aims to improve the accuracy and speed of identifying rare genetic conditions.

A recent study published in PubMed discusses multiple hyalinizing granulomas that can mimic pulmonary malignancy. This research highlights the need for accurate diagnosis to differentiate these granulomas from cancerous lesions.

Research identifies RAB3GAP2 as a key regulator of skeletal muscle endothelial cell proliferation, impacting the capillary-to-fiber ratio. This discovery could have implications for understanding muscle-related diseases.

A case report highlights disseminated bartonellosis presenting as autoimmune glomerulonephritis, emphasizing the need for differential diagnosis in similar cases. This finding could impact clinical approaches to diagnosing kidney-related symptoms.

Not rare diseases news,
news about your rare disease.