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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 study on metagenomic sequencing of wastewater in the U.S. demonstrates effective viral enrichment and alignment with digital PCR measurements. This research could enhance monitoring of viral outbreaks and inform public health strategies.

prospective metagenomic sequencing of wastewater across the united states yields robust viral enrichment and concordance with digital pcr measurements

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Prospective metagenomic sequencing of wastewater across the United States yields robust viral enrichment and concordance with digital PCR measurements.”

poorly differentiated thyroid gland carcinoma poorly differentiated thymic neuroendocrine carcinoma+1 moreResearch

A recent study published in PubMed evaluates the clinical outcomes of pembrolizumab combination therapy in patients with heavily pretreated poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid cancer. The findings contribute to understanding treatment efficacy in these challenging cancer types.

clinical outcomes of pembrolizumab combination therapy in heavily pretreated pdtc and anaplastic thyroid cancer

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Clinical Outcomes of Pembrolizumab Combination Therapy in Heavily Pretreated PDTC and Anaplastic Thyroid Cancer.”

Research

A study highlights the ongoing diagnostic potential of non-diagnostic exome sequencing within the Undiagnosed Diseases Network. The findings emphasize that further investigation can lead to successful diagnoses, enhancing patient care.

not the end of the road achieving diagnoses following non diagnostic exome sequencing experiences at a clinical site of the undiagnosed diseases network

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network.”

Research

A focus group study reveals insights into general practitioners' and radiologists' expectations regarding ankle radiography for chronic complaints. The findings may inform future practices in diagnosing and managing chronic ankle conditions.

general practitioners and radiologists expectations of ankle radiography for chronic complaints a focus group study

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “General practitioners' and radiologists' expectations of ankle radiography for chronic complaints - a focus group study.”

Research

The new web server DiCE-Ex facilitates network-based differential-centrality gene exploration, enhancing the ability to identify key genes in rare diseases. This tool aims to support researchers in uncovering gene interactions and their implications in disease mechanisms.

dice ex a web server for network based differential centrality gene exploration

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “DiCE-Ex: a web server for network-based differential-centrality gene exploration.”

Research

A new publication provides a practical guide for recognizing and diagnosing neurometabolic epilepsies, emphasizing precision treatment approaches. This resource aims to enhance clinical understanding and management of these complex conditions.

neurometabolic epilepsies a practical guide to recognition diagnostic workup and precision treatment

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Neurometabolic Epilepsies: A Practical Guide to Recognition, Diagnostic Workup, and Precision Treatment.”

autoimmune hepatitisResearch

A recent study revisits the ferritin-IgG score as a predictive marker for complete biochemical response in autoimmune hepatitis. This research could enhance patient monitoring and treatment strategies for this condition.

revisiting ferritin igg score to predict complete biochemical response in autoimmune hepatitis

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Revisiting Ferritin-IgG Score to Predict Complete Biochemical Response in Autoimmune Hepatitis.”

atypical teratoid rhabdoid tumor Wilms tumor+1 moreResearch

A systematic review has been conducted on teratoid Wilms tumor, compiling patient-level data from published literature. This review aims to enhance understanding and treatment approaches for this rare pediatric kidney cancer.

teratoid wilms tumor a patient level systematic review of the published literature

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Teratoid Wilms Tumor: A Patient-Level Systematic Review of the Published Literature.”

neuroblastoma retinal neuroblastoma+1 moreResearch

A case report details metastatic neuroblastoma originating from an ovarian immature teratoma in a 16-year-old female. This unique presentation highlights the complexities of diagnosing and treating rare pediatric cancers.

metastatic neuroblastoma arising in an ovarian immature teratoma in a 16 year old female a case report

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Metastatic Neuroblastoma Arising in an Ovarian Immature Teratoma in a 16-Year-Old Female: A Case Report.”

Research

A retrospective study analyzed 44 patients with bamboo nodes, contributing to the understanding of this rare condition. The findings may provide insights for future research and treatment approaches.

bamboo nodes retrospective study of 44 patients

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Bamboo nodes: Retrospective study of 44 patients.”

Research

A recent study highlights the significant emotional distress experienced by patients with alpha-1 antitrypsin deficiency (AATD) and identifies a critical gap in mental health support. This research underscores the need for improved mental health resources for this patient population.

hidden burden of aatd high prevalence of emotional distress and the care gap in mental health support

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “The hidden burden of AATD: High prevalence of emotional distress and the 'care gap' in mental health support.”

breast cancer lung cancer+1 moreResearch

New research highlights the role of low-density neutrophils as active drivers in breast and lung cancer, shifting their perception from passive bystanders. This discovery could inform future therapeutic strategies targeting these immune cells.

decoding low density neutrophils in breast and lung cancer from bystanders to drivers

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Decoding Low-Density Neutrophils in Breast and Lung Cancer: From Bystanders to Drivers.”

Research

New insights from the MAINRITSAN trials highlight predictive factors for relapse and infection in patients with ANCA-associated vasculitis. This research aims to enhance patient outcomes through better risk assessment.

predicting relapse and infection to optimize patient outcomes in anca associated vasculitis data from the mainritsan trials cohort

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Predicting relapse and infection to optimize patient outcomes in ANCA-associated vasculitis: data from the MAINRITSAN trials cohort.”

Research

A retrospective analysis from the ESID registry highlights the use of leniolisib and rapamycin in treating Activated PI3-Kinase-δ-syndrome. This study contributes to understanding therapeutic options for this rare genetic disorder.

leniolisib and rapamycin in activated pi3 kinase syndrome a retrospective esid registry based analysis

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Leniolisib and rapamycin in Activated PI3-Kinase-δ-syndrome: a retrospective ESID registry-based analysis.”

Research

A case report highlights a novel variant in the DSP gene associated with Carvajal syndrome in a child, emphasizing the heart-skin connection. This study contributes to the understanding of the genetic underpinnings of this rare condition.

heart skin connection carvajal syndrome in a child with a novel dsp gene variant a case report and literature review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “The heart-skin connection: Carvajal syndrome in a child with a novel DSP gene variant-a case report and literature review.”

Research

A new study discusses the management of pulmonary infections caused by non-Aspergillus filamentous fungi, highlighting the need for improved treatment strategies. This research contributes to the understanding of rare fungal infections and their clinical implications.

management of pulmonary infections due to non aspergillus filamentous fungi

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “[Management of pulmonary infections due to non-Aspergillus filamentous fungi].”

Frasier syndrome chronic kidney disease+1 moreResearch

A recent case report highlights the ultrasonographic features of the kidney in patients with Frasier syndrome and stage 5 chronic kidney disease. This study contributes to the understanding of renal manifestations in this rare genetic condition.

ultrasonographic features of the kidney in patients with frasier syndrome and stage 5 chronic kidney disease a case report and literature review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Ultrasonographic Features of the Kidney in Patients With Frasier Syndrome and Stage 5 Chronic Kidney Disease: A Case Report and Literature Review.”

cerebellar ataxia cerebellar ataxia-ectodermal dysplasia syndromeResearch

A study from Latvia's National Reference Centre highlights six years of experience in diagnosing and managing hereditary and non-hereditary cerebellar ataxias. This research contributes valuable insights into the clinical characteristics and treatment approaches for these conditions.

hereditary and non hereditary cerebellar ataxias in latvia six years of experience at the national reference centre ern rnd affiliated partner

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

A recent study highlights significant sex and racial disparities in clinical outcomes and health resource utilization among patients with primary biliary cholangitis in the United States. This research underscores the need for targeted interventions to address these disparities.

sex and racial disparities in clinical outcomes and health resource use among patients with primary biliary cholangitis in the united states

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Sex and racial disparities in clinical outcomes and health resource use among patients with primary biliary cholangitis in the United States.”

pseudoxanthoma elasticum (inherited or acquired)pseudoxanthoma elasticum, forme frusteResearch

Recent research highlights an increased risk of cerebrovascular events in patients with pseudoxanthoma elasticum. This finding underscores the need for heightened monitoring and management strategies in this patient population.

increased risk of cerebrovascular events in pseudoxanthoma elasticum

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Increased Risk of Cerebrovascular Events in Pseudoxanthoma Elasticum.”

Previous70 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A study on metagenomic sequencing of wastewater in the U.S. demonstrates effective viral enrichment and alignment with digital PCR measurements. This research could enhance monitoring of viral outbreaks and inform public health strategies.

A study highlights the ongoing diagnostic potential of non-diagnostic exome sequencing within the Undiagnosed Diseases Network. The findings emphasize that further investigation can lead to successful diagnoses, enhancing patient care.

A focus group study reveals insights into general practitioners' and radiologists' expectations regarding ankle radiography for chronic complaints. The findings may inform future practices in diagnosing and managing chronic ankle conditions.

The new web server DiCE-Ex facilitates network-based differential-centrality gene exploration, enhancing the ability to identify key genes in rare diseases. This tool aims to support researchers in uncovering gene interactions and their implications in disease mechanisms.

A new publication provides a practical guide for recognizing and diagnosing neurometabolic epilepsies, emphasizing precision treatment approaches. This resource aims to enhance clinical understanding and management of these complex conditions.

A recent study revisits the ferritin-IgG score as a predictive marker for complete biochemical response in autoimmune hepatitis. This research could enhance patient monitoring and treatment strategies for this condition.

A systematic review has been conducted on teratoid Wilms tumor, compiling patient-level data from published literature. This review aims to enhance understanding and treatment approaches for this rare pediatric kidney cancer.

A case report details metastatic neuroblastoma originating from an ovarian immature teratoma in a 16-year-old female. This unique presentation highlights the complexities of diagnosing and treating rare pediatric cancers.

A retrospective study analyzed 44 patients with bamboo nodes, contributing to the understanding of this rare condition. The findings may provide insights for future research and treatment approaches.

A recent study highlights the significant emotional distress experienced by patients with alpha-1 antitrypsin deficiency (AATD) and identifies a critical gap in mental health support. This research underscores the need for improved mental health resources for this patient population.

New research highlights the role of low-density neutrophils as active drivers in breast and lung cancer, shifting their perception from passive bystanders. This discovery could inform future therapeutic strategies targeting these immune cells.

New insights from the MAINRITSAN trials highlight predictive factors for relapse and infection in patients with ANCA-associated vasculitis. This research aims to enhance patient outcomes through better risk assessment.

A retrospective analysis from the ESID registry highlights the use of leniolisib and rapamycin in treating Activated PI3-Kinase-δ-syndrome. This study contributes to understanding therapeutic options for this rare genetic disorder.

A case report highlights a novel variant in the DSP gene associated with Carvajal syndrome in a child, emphasizing the heart-skin connection. This study contributes to the understanding of the genetic underpinnings of this rare condition.

A new study discusses the management of pulmonary infections caused by non-Aspergillus filamentous fungi, highlighting the need for improved treatment strategies. This research contributes to the understanding of rare fungal infections and their clinical implications.

A recent case report highlights the ultrasonographic features of the kidney in patients with Frasier syndrome and stage 5 chronic kidney disease. This study contributes to the understanding of renal manifestations in this rare genetic condition.

A study from Latvia's National Reference Centre highlights six years of experience in diagnosing and managing hereditary and non-hereditary cerebellar ataxias. This research contributes valuable insights into the clinical characteristics and treatment approaches for these conditions.

A recent study highlights significant sex and racial disparities in clinical outcomes and health resource utilization among patients with primary biliary cholangitis in the United States. This research underscores the need for targeted interventions to address these disparities.

Recent research highlights an increased risk of cerebrovascular events in patients with pseudoxanthoma elasticum. This finding underscores the need for heightened monitoring and management strategies in this patient population.

Not rare diseases news,
news about your rare disease.