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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 recent exploratory study published in PubMed investigates the differential effects of high and low frequency subthalamic nucleus deep brain stimulation on force steadiness in patients with Parkinson's disease. The findings may provide insights into optimizing treatment strategies for this condition.

differential effects of high and low frequency subthalamic nucleus deep brain stimulation on force steadiness in patients with parkinson s disease an exploratory study

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Differential Effects of High and Low Frequency Subthalamic Nucleus Deep Brain Stimulation on Force Steadiness in Patients with Parkinson's Disease: An Exploratory Study.”

type 2 diabetes mellitusResearch

The phase 3 REIMAGINE 2 study evaluates the efficacy of Cagrilintide-semaglutide (CagriSema) compared to semaglutide or cagrilintide alone in patients with type 2 diabetes. This double-blind, randomized controlled trial aims to provide insights into treatment options for this prevalent condition.

cagrilintide semaglutide cagrisema versus semaglutide or cagrilintide in people with type 2 diabetes reimagine 2 a double blind randomised controlled phase 3 study

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Cagrilintide-semaglutide (CagriSema) versus semaglutide or cagrilintide in people with type 2 diabetes (REIMAGINE 2): a double-blind, randomised, controlled, phase 3 study.”

Research

A recent scoping review highlights the critical role pharmacists play in managing rare diseases, addressing treatment challenges and improving patient outcomes. This study underscores the need for enhanced collaboration among healthcare professionals to optimize care for rare disease patients.

facing the challenges of treating rare diseases a scoping review of the role of pharmacists

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Facing the challenges of treating rare diseases: a scoping review of the role of pharmacists.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

A study published in PubMed examines the association between steatotic liver disease and primary biliary cholangitis (PBC) diagnosis, focusing on the response to ursodeoxycholic acid treatment. The findings may influence treatment strategies for PBC patients with steatosis.

steatotic liver disease at primary biliary cholangitis diagnosis association with ursodeoxycholic acid response and outcomes

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Steatotic Liver Disease at Primary Biliary Cholangitis Diagnosis: Association With Ursodeoxycholic Acid Response and Outcomes.”

hereditary hemorrhagic telangiectasiaResearch

A study identifies a recurrent t(9;12) translocation that disrupts the ACVRL1 gene, leading to hereditary hemorrhagic telangiectasia in four unrelated families. This finding highlights the limitations of standard exome sequencing in detecting certain genetic alterations.

recurrent t 9 12 translocation disrupting acvrl1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.”

phenylketonuria phenylketonuria+1 moreResearch

Research highlights sepiapterin's unique dual mechanism of action, suggesting potential treatment benefits for patients with varying severities of phenylketonuria. This discovery could enhance therapeutic strategies for managing this rare metabolic disorder.

sepiapterin a distinct dual mechanism of action that leads to potential treatment benefits across the spectrum of phenylketonuria disease severities

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Sepiapterin: A Distinct, Dual Mechanism of Action that Leads to Potential Treatment Benefits Across the Spectrum of Phenylketonuria Disease Severities.”

Research

CoCl(2)-induced alterations in antioxidative and inflammatory marker expression in an siRNA-based in vitro model of aniridia-associated limbal epithelial dysfunction.

PubMed Rare Disease·5 months ago·Read at source →

Research

A new model named CLASPP has been developed to predict post-translational modifications, which could enhance understanding of protein functions and disease mechanisms. This research may have implications for various rare diseases linked to protein alterations.

claspp a unified model for predicting post translational modifications

PubMed Rare Disease·5 months ago·Read at source →

Original title: “CLASPP: A unified model for predicting post-translational modifications.”

cardiogenic shockResearch

Recent research provides insights into phenotype-tailored management strategies for cardiogenic shock in Takotsubo syndrome. This study enhances understanding of the condition's management, potentially improving patient outcomes.

cardiogenic shock in takotsubo syndrome insights into phenotype tailored management

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Cardiogenic shock in Takotsubo syndrome: Insights into phenotype-tailored management.”

Research

A new dataset of widefield fundus images has been compiled from patients with birdshot chorioretinitis and matched controls. This resource aims to enhance research and understanding of the disease.

dataset of widefield fundus images from patients with birdshot chorioretinitis and matched control

PubMed Rare Disease·5 months ago·Read at source →

Original title: “A Dataset of Widefield Fundus Images From Patients With Birdshot Chorioretinitis and Matched Control.”

Research

A new AI-driven platform, G.AI, has been developed for phenotype standardization and variant interpretation in rare disease genomic diagnosis. This tool aims to enhance structured clinical reporting, potentially improving diagnostic accuracy in rare diseases.

g ai an ai driven platform for phenotype standardization variant interpretation and structured clinical reporting in rare disease genomic diagnosis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.”

maple syrup urine diseaseResearch

A new publication provides guidance on managing acute metabolic decompensation in maple syrup urine disease, based on international clinical practices. This research aims to improve clinical outcomes for patients affected by this rare metabolic disorder.

management of acute metabolic decompensation in maple syrup urine disease guidance based on international clinical practice

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.”

Research

A recent study explores the clinicopathologic spectrum of intrahepatic neoplasms characterized by a prominent inflammatory background. The findings may enhance diagnostic strategies for these complex conditions.

clinicopathologic spectrum and diagnostic strategies of intrahepatic neoplasms with prominent inflammatory background

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Clinicopathologic spectrum and diagnostic strategies of intrahepatic neoplasms with prominent inflammatory background.”

Research

A recent case study published in PubMed highlights a unique presentation of a coral reef-like appearance in the thoracic aorta and subclavian artery. This case contributes to the understanding of vascular anomalies and their implications in rare diseases.

nasci case of the month coral reef thoracic aorta and subclavian artery

PubMed Rare Disease·5 months ago·Read at source →

Original title: “NASCI case of the month: coral reef thoracic aorta and subclavian artery.”

Research

A recent study published in PubMed examines survival outcomes in early onset appendiceal adenocarcinoma, providing new insights into this rare cancer. The findings may inform future research and treatment strategies for affected patients.

survival outcomes in early onset appendiceal adenocarcinoma eoaa

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Survival Outcomes in Early Onset Appendiceal Adenocarcinoma (EOAA).”

myocarditis acute myocarditis+1 moreResearch

A case report details a rare overlap syndrome of pembrolizumab-induced myocarditis, myositis, and myasthenia gravis in a patient with endometrial carcinoma. The report highlights concurrent hepatitis and thyroiditis, emphasizing the complexity of immune-related adverse events.

refractory pembrolizumab induced myocarditis myositis myasthenia gravis overlap syndrome with concurrent hepatitis and thyroiditis in endometrial carcinoma a case report

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Refractory Pembrolizumab-Induced Myocarditis-Myositis-Myasthenia Gravis Overlap Syndrome With Concurrent Hepatitis and Thyroiditis in Endometrial Carcinoma: A Case Report.”

adrenocortical carcinoma, hereditaryResearch

A recent study analyzes the clinical and pathological characteristics of classic adrenocortical carcinoma, providing insights that could inform future research and treatment strategies. The findings contribute to the understanding of this rare cancer type.

analysis of clinical and pathological characteristics of classic adrenocortical carcinoma

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Analysis of clinical and pathological characteristics of classic adrenocortical carcinoma.”

bone sarcoma sarcoma+1 moreResearch

A phase 2 trial evaluates the combination of anlotinib and toripalimab in patients with advanced bone and soft tissue sarcomas, including ultra-rare variants. This multicenter study contributes to understanding treatment options for these challenging conditions.

anlotinib plus toripalimab in patients with advanced bone and soft tissue sarcomas including ultra rare sarcomas a multicenter single arm phase 2 trial

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Anlotinib plus toripalimab in patients with advanced bone and soft tissue sarcomas including ultra-rare sarcomas: A multicenter, single-arm, phase 2 trial.”

Bell's palsy COVID-19Research

A case report details the management of Bell's palsy in a 2-month-old infant following COVID-19 infection. This review highlights the potential neurological complications associated with COVID-19 in young patients.

management of bell s palsy in a 2 month old following covid 19 infection a case report and review of the literature

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Management of Bell's palsy in a 2-month-old following COVID-19 infection: a case report and review of the literature.”

autoimmune pulmonary alveolar proteinosis hereditary pulmonary alveolar proteinosisResearch

A recent study highlights the comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis. This research may inform future clinical approaches and management strategies for affected individuals.

comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis.”

Previous258 / 486Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

The phase 3 REIMAGINE 2 study evaluates the efficacy of Cagrilintide-semaglutide (CagriSema) compared to semaglutide or cagrilintide alone in patients with type 2 diabetes. This double-blind, randomized controlled trial aims to provide insights into treatment options for this prevalent condition.

A recent scoping review highlights the critical role pharmacists play in managing rare diseases, addressing treatment challenges and improving patient outcomes. This study underscores the need for enhanced collaboration among healthcare professionals to optimize care for rare disease patients.

A study published in PubMed examines the association between steatotic liver disease and primary biliary cholangitis (PBC) diagnosis, focusing on the response to ursodeoxycholic acid treatment. The findings may influence treatment strategies for PBC patients with steatosis.

A study identifies a recurrent t(9;12) translocation that disrupts the ACVRL1 gene, leading to hereditary hemorrhagic telangiectasia in four unrelated families. This finding highlights the limitations of standard exome sequencing in detecting certain genetic alterations.

Research highlights sepiapterin's unique dual mechanism of action, suggesting potential treatment benefits for patients with varying severities of phenylketonuria. This discovery could enhance therapeutic strategies for managing this rare metabolic disorder.

CoCl(2)-induced alterations in antioxidative and inflammatory marker expression in an siRNA-based in vitro model of aniridia-associated limbal epithelial dysfunction.

A new model named CLASPP has been developed to predict post-translational modifications, which could enhance understanding of protein functions and disease mechanisms. This research may have implications for various rare diseases linked to protein alterations.

Recent research provides insights into phenotype-tailored management strategies for cardiogenic shock in Takotsubo syndrome. This study enhances understanding of the condition's management, potentially improving patient outcomes.

A new dataset of widefield fundus images has been compiled from patients with birdshot chorioretinitis and matched controls. This resource aims to enhance research and understanding of the disease.

A new AI-driven platform, G.AI, has been developed for phenotype standardization and variant interpretation in rare disease genomic diagnosis. This tool aims to enhance structured clinical reporting, potentially improving diagnostic accuracy in rare diseases.

A new publication provides guidance on managing acute metabolic decompensation in maple syrup urine disease, based on international clinical practices. This research aims to improve clinical outcomes for patients affected by this rare metabolic disorder.

A recent study explores the clinicopathologic spectrum of intrahepatic neoplasms characterized by a prominent inflammatory background. The findings may enhance diagnostic strategies for these complex conditions.

A recent case study published in PubMed highlights a unique presentation of a coral reef-like appearance in the thoracic aorta and subclavian artery. This case contributes to the understanding of vascular anomalies and their implications in rare diseases.

A recent study published in PubMed examines survival outcomes in early onset appendiceal adenocarcinoma, providing new insights into this rare cancer. The findings may inform future research and treatment strategies for affected patients.

A case report details a rare overlap syndrome of pembrolizumab-induced myocarditis, myositis, and myasthenia gravis in a patient with endometrial carcinoma. The report highlights concurrent hepatitis and thyroiditis, emphasizing the complexity of immune-related adverse events.

A recent study analyzes the clinical and pathological characteristics of classic adrenocortical carcinoma, providing insights that could inform future research and treatment strategies. The findings contribute to the understanding of this rare cancer type.

A phase 2 trial evaluates the combination of anlotinib and toripalimab in patients with advanced bone and soft tissue sarcomas, including ultra-rare variants. This multicenter study contributes to understanding treatment options for these challenging conditions.

A case report details the management of Bell's palsy in a 2-month-old infant following COVID-19 infection. This review highlights the potential neurological complications associated with COVID-19 in young patients.

A recent study highlights the comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis. This research may inform future clinical approaches and management strategies for affected individuals.

Not rare diseases news,
news about your rare disease.