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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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bladder trigone cancer bladder neck cancer+1 moreResearch

A recent study investigates the risk factors, incidence, and outcomes of bladder and ureteral cancer in lung transplant recipients. This single-center cohort study provides valuable insights into the complications faced by this patient population.

risk factors incidence and outcomes of bladder and ureteral cancer in lung transplant recipients a single center cohort study

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

Original title: “Risk factors, incidence, and outcomes of bladder and ureteral cancer in lung transplant recipients: A single-center cohort study.”

Research

A new patient-based quality control model for laboratory tests has been proposed, focusing on the moving percentage of failed delta checks. This model aims to enhance the accuracy and reliability of test results in rare disease diagnostics.

moving percentage of failed delta checks a novel patient based quality control model

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

Original title: “Moving percentage of failed delta checks: a novel patient-based quality control model.”

breast cancerResearch

A recent study explores the clinicopathological features of encapsulated papillary carcinoma of the breast and its implications for surgical axillary management. The findings may influence treatment strategies for this rare breast cancer subtype.

clinicopathological features and impact on surgical axillary management of encapsulated papillary carcinoma of the breast

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

Original title: “Clinicopathological features and impact on surgical axillary management of encapsulated papillary carcinoma of the breast.”

malignant tumor of minor salivary gland major salivary gland cancerResearch

A 24-year retrospective cohort study investigates survival outcomes and prognostic factors for primary salivary gland malignancy. The findings contribute to understanding the disease's clinical behavior and potential treatment strategies.

survival outcomes and prognostic factors of primary salivary gland malignancy a 24 year retrospective cohort study

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

Original title: “Survival Outcomes and Prognostic Factors of Primary Salivary Gland Malignancy: A 24-Year Retrospective Cohort Study.”

Research

A recent study highlights early longitudinal brain network changes in Huntington's disease prior to clinical motor onset. These findings may provide insights into the disease's progression and potential early intervention strategies.

early longitudinal brain network changes in huntington s disease before clinical motor onset

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

Original title: “Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset.”

chronic renal failure syndrome action myoclonus-renal failure syndrome+1 moreResearch

A recent study highlights the challenges in creating a hemodialysis arteriovenous fistula in patients with high division of the radial artery. This research may inform surgical approaches and improve outcomes for patients requiring hemodialysis.

challenging creation of a hemodialysis arteriovenous fistula avf in a patient with high division of the radial artery

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

Original title: “Challenging creation of a hemodialysis arteriovenous fistula (AVF) in a patient with high division of the radial artery.”

heart failure congestive heart failure+1 moreResearch

A recent study published in PubMed examines the use of conventional medical treatments for heart failure with reduced ejection fraction in patients with end-stage hypertrophic cardiomyopathy. The findings provide insights into treatment patterns that could inform future clinical practices.

pattern of use of conventional medical treatments of heart failure with reduced ejection fraction in end stage hypertrophic cardiomyopathy

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

Original title: “Pattern of use of conventional medical treatments of heart failure with reduced ejection fraction in end-stage hypertrophic cardiomyopathy.”

Research

A new study introduces a dual-mismatch crRNA strategy that enhances the fidelity of single nucleotide variant (SNV) detection using Cas12a. This advancement could improve genetic testing accuracy for various rare diseases.

focus a dual mismatch crrna strategy unlocks high fidelity one step snv detection with cas12a

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

Original title: “FOCUS: A Dual-Mismatch crRNA Strategy Unlocks High-Fidelity One-Step SNV Detection with Cas12a.”

prostate cancer prostate cancer, hereditary+1 moreResearch

A case report highlights penile metastasis from castration-resistant prostate cancer, providing insights into this rare occurrence. This study contributes to the understanding of metastatic patterns in advanced prostate cancer.

penile metastasis from castration resistant prostate cancer a case report

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

Original title: “Penile Metastasis From Castration-Resistant Prostate Cancer: A Case Report.”

Research

A recent study details the clinical features of asparagine synthetase deficiency and shares insights from experiences with asparagine supplementation. This research contributes to the understanding of the disease and potential treatment approaches.

asparagine synthetase deficiency clinical features and experience with asparagine supplementation

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

Original title: “Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation.”

Research

Congressional Panel Says the United States Is Losing Its Lead on Rare Disease Cures

Treatment & Clinical News·3 months ago·Read at source →

Ewing sarcoma Ewing sarcoma of boneResearch

A study reports a durable clinical and immunologic response to an off-the-shelf EWSR1-FLI1 peptide vaccine in patients with metastatic Ewing sarcoma. This breakthrough could enhance treatment options for this rare cancer.

durable clinical and immunologic response to an off the shelf ewsr1 fli1 peptide vaccine in metastatic ewing sarcoma

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

Original title: “Durable clinical and immunologic response to an off-the-shelf EWSR1-FLI1 peptide vaccine in metastatic Ewing sarcoma.”

Research

Constrained differentiation of human pluripotent stem cells into homogeneous bronchial epithelium on a fibroblast seeded matrix.

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

Research

A case report highlights the recurrent migration of fish bone foreign bodies into the intrahepatic bile duct following pancreaticoduodenectomy, identified through DNA metabarcoding. This study provides insights into the pathophysiological mechanisms involved.

recurrent migration of fish bone foreign bodies into the intrahepatic bile duct after pancreaticoduodenectomy identified by dna metabarcoding a case report with pathophysiological considerations

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

Original title: “Recurrent Migration of Fish Bone Foreign Bodies into the Intrahepatic Bile Duct After Pancreaticoduodenectomy Identified by DNA Metabarcoding: A Case Report with Pathophysiological Considerations.”

Research

A new study delineates the phenotypic spectrum and variant landscape of PPP1R21-related neurodevelopmental disorder, providing insights into its pathophysiological mechanisms. This research enhances understanding of the disorder's clinical presentation and genetic underpinnings.

ppp1r21 related neurodevelopmental disorder phenotypic delineation variant spectrum and pathophysiological mechanisms

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

Original title: “PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.”

Research

A recent case series report sheds light on Behçet's disease within the European population, providing valuable insights into its clinical presentation and management. This research contributes to the understanding of this rare condition, which may enhance diagnosis and treatment strategies.

unmasking beh et s disease in the european population a case series report

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

Original title: “Unmasking Behçet's disease in the European population: a case series report.”

pseudomyogenic hemangioendotheliomaResearch

A recent case report details pseudomyogenic hemangioendothelioma affecting skin, bone, and soft tissue, providing long-term follow-up insights. This study contributes to the understanding of this rare vascular tumor.

pseudomyogenic hemangioendothelioma involving skin bone and soft tissue a case report with long term follow up and review of literature

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

Original title: “Pseudomyogenic hemangioendothelioma (involving skin, bone and soft tissue): a case report with long-term follow-up and review of literature.”

Research

A recent study analyzes trends in early-onset appendiceal adenocarcinoma among patients under 50 years from 2000 to 2023. The findings highlight changes in case proportions, histologic patterns, and survival outcomes, providing valuable insights for future research and treatment strategies.

early onset appendiceal adenocarcinoma age 50 years temporal trends in case proportions histologic patterns and survival outcomes from seer 2000 2023

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

Original title: “Early-Onset Appendiceal Adenocarcinoma (Age < 50 Years): Temporal Trends in Case Proportions, Histologic Patterns, and Survival Outcomes From SEER, 2000-2023.”

Listeria meningitisResearch

A multicenter case series from Türkiye presents previously unpublished pediatric cases of listeria monocytogenes meningitis beyond the neonatal period. This research adds valuable insights into the clinical presentation and management of this rare infection in children.

listeria monocytogenes meningitis beyond the neonatal period a multicenter case series of previously unpublished pediatric cases from t rkiye

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

Original title: “Listeria monocytogenes meningitis beyond the neonatal period: a multicenter case series of previously unpublished pediatric cases from Türkiye.”

Research

A recent study published by the International Soft Tissue Sarcoma Consortium analyzes outcomes for children with orbital rhabdomyosarcoma from 1991 to 2016. The findings contribute valuable insights into treatment efficacy and survival rates for this rare pediatric cancer.

outcomes of children with orbital rhabdomyosarcoma 1991 2016 a report from the international soft tissue sarcoma consortium instruct

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

Original title: “Outcomes of Children With Orbital Rhabdomyosarcoma, 1991-2016: A Report From the International Soft Tissue Sarcoma Consortium (INSTRuCT).”

Previous176 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study investigates the risk factors, incidence, and outcomes of bladder and ureteral cancer in lung transplant recipients. This single-center cohort study provides valuable insights into the complications faced by this patient population.

A new patient-based quality control model for laboratory tests has been proposed, focusing on the moving percentage of failed delta checks. This model aims to enhance the accuracy and reliability of test results in rare disease diagnostics.

A recent study explores the clinicopathological features of encapsulated papillary carcinoma of the breast and its implications for surgical axillary management. The findings may influence treatment strategies for this rare breast cancer subtype.

A 24-year retrospective cohort study investigates survival outcomes and prognostic factors for primary salivary gland malignancy. The findings contribute to understanding the disease's clinical behavior and potential treatment strategies.

A recent study highlights early longitudinal brain network changes in Huntington's disease prior to clinical motor onset. These findings may provide insights into the disease's progression and potential early intervention strategies.

A recent study highlights the challenges in creating a hemodialysis arteriovenous fistula in patients with high division of the radial artery. This research may inform surgical approaches and improve outcomes for patients requiring hemodialysis.

A recent study published in PubMed examines the use of conventional medical treatments for heart failure with reduced ejection fraction in patients with end-stage hypertrophic cardiomyopathy. The findings provide insights into treatment patterns that could inform future clinical practices.

A new study introduces a dual-mismatch crRNA strategy that enhances the fidelity of single nucleotide variant (SNV) detection using Cas12a. This advancement could improve genetic testing accuracy for various rare diseases.

A case report highlights penile metastasis from castration-resistant prostate cancer, providing insights into this rare occurrence. This study contributes to the understanding of metastatic patterns in advanced prostate cancer.

A recent study details the clinical features of asparagine synthetase deficiency and shares insights from experiences with asparagine supplementation. This research contributes to the understanding of the disease and potential treatment approaches.

Congressional Panel Says the United States Is Losing Its Lead on Rare Disease Cures

A study reports a durable clinical and immunologic response to an off-the-shelf EWSR1-FLI1 peptide vaccine in patients with metastatic Ewing sarcoma. This breakthrough could enhance treatment options for this rare cancer.

Constrained differentiation of human pluripotent stem cells into homogeneous bronchial epithelium on a fibroblast seeded matrix.

A case report highlights the recurrent migration of fish bone foreign bodies into the intrahepatic bile duct following pancreaticoduodenectomy, identified through DNA metabarcoding. This study provides insights into the pathophysiological mechanisms involved.

A new study delineates the phenotypic spectrum and variant landscape of PPP1R21-related neurodevelopmental disorder, providing insights into its pathophysiological mechanisms. This research enhances understanding of the disorder's clinical presentation and genetic underpinnings.

A recent case series report sheds light on Behçet's disease within the European population, providing valuable insights into its clinical presentation and management. This research contributes to the understanding of this rare condition, which may enhance diagnosis and treatment strategies.

A recent case report details pseudomyogenic hemangioendothelioma affecting skin, bone, and soft tissue, providing long-term follow-up insights. This study contributes to the understanding of this rare vascular tumor.

A recent study analyzes trends in early-onset appendiceal adenocarcinoma among patients under 50 years from 2000 to 2023. The findings highlight changes in case proportions, histologic patterns, and survival outcomes, providing valuable insights for future research and treatment strategies.

A multicenter case series from Türkiye presents previously unpublished pediatric cases of listeria monocytogenes meningitis beyond the neonatal period. This research adds valuable insights into the clinical presentation and management of this rare infection in children.

A recent study published by the International Soft Tissue Sarcoma Consortium analyzes outcomes for children with orbital rhabdomyosarcoma from 1991 to 2016. The findings contribute valuable insights into treatment efficacy and survival rates for this rare pediatric cancer.

Not rare diseases news,
news about your rare disease.