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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 study identifies neurological adverse events linked to immune checkpoint inhibitors using disproportionality analysis of the FDA Adverse Event Reporting System. This research highlights the need for increased awareness and monitoring of these potential side effects in patients undergoing treatment.

neurological adverse events associated with immune checkpoint inhibitors identified through disproportionality analysis of the fda adverse event reporting system

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Neurological Adverse Events Associated With Immune Checkpoint Inhibitors Identified Through Disproportionality Analysis of the FDA Adverse Event Reporting System.”

Research

Research identifies biallelic VPS41 variants as a cause of autosomal recessive spinocerebellar ataxia 29 through long-read sequencing and RNA analysis. This discovery enhances understanding of the genetic underpinnings of this rare neurological disorder.

biallelic vps41 variants in autosomal recessive spinocerebellar ataxia 29 resolved by long read sequencing and rna analysis

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.”

kaposiform hemangioendotheliomaResearch

A recent study highlights the high responsiveness of head and neck kaposiform hemangioendothelioma to sirolimus monotherapy, particularly in cases without the Kasabach-Merritt phenomenon. This finding could inform treatment strategies for this rare vascular tumor.

high responsiveness of head and neck kaposiform hemangioendothelioma without kasabach merritt phenomenon to sirolimus monotherapy

PubMed Rare Disease·2 months ago·Read at source →

Original title: “High Responsiveness of Head and Neck Kaposiform Hemangioendothelioma Without Kasabach-Merritt Phenomenon to Sirolimus Monotherapy.”

Research

Peptide Dissolved in Alkaline Buffer with Blocking Significantly Enhances Performance of Synthetic Peptide-Displaying Surfaces in Supporting Human Pluripotent Stem Cell Culture.

PubMed Rare Disease·2 months ago·Read at source →

idiopathic spontaneous coronary artery dissectionResearch

A recent study explores the diagnostic challenges of emotion-triggered spontaneous coronary artery dissection in patients with multiple cardiovascular risk factors. The research highlights the overlap with atherosclerotic acute coronary syndrome and Takotsubo cardiomyopathy, providing insights for better diagnosis and management.

emotion triggered spontaneous coronary artery dissection in a patient with multiple cardiovascular risk factors navigating the diagnostic overlap with atherosclerotic acute coronary syndrome and takotsubo cardiomyopathy

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Emotion-triggered spontaneous coronary artery dissection in a patient with multiple cardiovascular risk factors: navigating the diagnostic overlap with atherosclerotic acute coronary syndrome and Takotsubo cardiomyopathy.”

Research

Recent research highlights advances in understanding adult-onset disorders of muscle lipid metabolism, shedding light on potential therapeutic targets. These findings could pave the way for new treatment strategies in this area.

recent advances in adult onset disorders of muscle lipid metabolism

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Recent advances in adult-onset disorders of muscle lipid metabolism.”

differentiated thyroid carcinoma poorly differentiated thyroid gland carcinomaResearch

A recent study evaluates the effectiveness of radioiodine therapy in managing pediatric differentiated thyroid cancer, suggesting that a less aggressive approach may be beneficial. This research could influence treatment protocols for this rare cancer in children.

less is more evaluating the role of radioiodine therapy in pediatric differentiated thyroid cancer management

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Less is more? Evaluating the role of radioiodine therapy in pediatric differentiated thyroid cancer management.”

renal carcinoma nonpapillary renal cell carcinoma+1 moreResearch

A recent case report highlights the successful achievement of complete cytoreduction in a patient with stage IV renal carcinoma, despite multicompartment recurrence and peritoneal carcinomatosis. This case may provide insights into treatment strategies for advanced renal cancer.

achieving complete cytoreduction after systemic therapy for stage iv renal carcinoma with multicompartment recurrence and peritoneal carcinomatosis a case report

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Achieving Complete Cytoreduction After Systemic Therapy for Stage IV Renal Carcinoma With Multicompartment Recurrence and Peritoneal Carcinomatosis: A Case Report.”

autism autism spectrum disorderResearch

A new qualitative study explores the intersection of autism and gender incongruence in adolescents, revealing a complex interplay of discomfort experienced by individuals. This research contributes to understanding the unique challenges faced by this population.

it s like a chain reaction of discomfort a phenomenological qualitative study on the intersection of autism and gender incongruence in adolescents

PubMed Rare Disease·2 months ago·Read at source →

Original title: “"It's Like a Chain Reaction of Discomfort": A Phenomenological Qualitative Study on the Intersection of Autism and Gender Incongruence in Adolescents.”

MYH7-related skeletal myopathyResearch

A recent study explores the role of electrophysiologists in diagnosing skeletal myopathy, specifically in a case of fukutin-related protein cardiomyopathy. This research highlights the potential for interdisciplinary approaches in rare disease diagnosis.

can an electrophysiologist play a role in diagnosing skeletal myopathy a case of fukutin related protein cardio myopathy

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Can an electrophysiologist play a role in diagnosing skeletal myopathy? A case of fukutin-related protein (cardio)myopathy.”

lysinuric protein intoleranceResearch

Recent research highlights metabolic alterations linked to immune dysfunction in lysinuric protein intolerance. This study provides insights that could inform future therapeutic strategies for managing the disease.

metabolic alterations associated with immune dysfunction in lysinuric protein intolerance

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance.”

Shwachman-Diamond syndrome Shwachman-Diamond syndrome 1+1 moreResearch

A recent report from the North American Shwachman-Diamond Syndrome Registry highlights neuropsychological and educational outcomes in patients with Shwachman-Diamond Syndrome. This study provides valuable insights into the cognitive and educational challenges faced by individuals with this rare disease.

neuropsychological and educational outcomes in shwachman diamond syndrome a report from the north american shwachman diamond syndrome registry

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.”

cerebral sinovenous thrombosisResearch

A case report highlights the radiologic evolution and developmental correlates in fetal cerebral sinovenous thrombosis. This study contributes to the understanding of the condition's impact on fetal development.

child neurology radiologic evolution and developmental correlates in fetal cerebral sinovenous thrombosis a case report

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Child Neurology: Radiologic Evolution and Developmental Correlates in Fetal Cerebral Sinovenous Thrombosis: A Case Report.”

Research

A new case report details unilateral short-root abnormality disease affecting multiple roots, contributing to the understanding of this rare condition. This study adds to the existing literature on dental anomalies and their implications.

case report of unilateral short root abnormality disease of multiple roots

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Case Report of Unilateral Short-Root Abnormality Disease of Multiple Roots.”

Research

A multicenter study explores the clinical and genetic spectrum of ATP1A3-related disorders, providing valuable insights into the phenotypic variability and genetic underpinnings of these conditions. This research enhances understanding of ATP1A3 mutations and their implications for patient management.

clinical and genetic spectrum of atp1a3 related disorders a multicenter cross sectional study

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Clinical and Genetic Spectrum of ATP1A3-Related Disorders: A Multicenter Cross-Sectional Study.”

disseminated visceral giant cell angiitisResearch

Recent research highlights rare manifestations of giant cell arteritis, expanding the understanding of this condition. The findings may influence future diagnostic and treatment approaches for affected patients.

rare manifestations of giant cell arteritis

PubMed Rare Disease·2 months ago·Read at source →

Original title: “[Rare manifestations of giant cell arteritis].”

oral cavity cancerResearch

A new study explores the neuroimmunology of oral cancer, highlighting the relationship between tumor progression, systemic inflammation, and neural circuit dysfunction. The research provides insights into how these factors interact from the cerebellum to the frontal cortex.

neuroimmunology of oral cancer tumor progression systemic inflammation and neural circuit dysfunction from the cerebellum to the frontal cortex

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Neuroimmunology of Oral Cancer: Tumor Progression, Systemic Inflammation, and Neural Circuit Dysfunction from the Cerebellum to the Frontal Cortex.”

varicella, severe recurrent varicella zoster infection+1 moreResearch

A recent study published in PubMed explores the occurrence of simultaneous bilateral facial nerve palsy following childhood varicella infection. This research highlights a rare complication associated with varicella, contributing to the understanding of its neurological impacts.

beyond the rash simultaneous bilateral facial nerve palsy following childhood varicella infection

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Beyond the Rash: Simultaneous Bilateral Facial Nerve Palsy Following Childhood Varicella Infection.”

gallbladder cancerResearch

Research on human gallbladder cancer organoids provides insights into tumor biology and potential therapeutic targets. This study may pave the way for personalized treatment strategies in gallbladder cancer.

human gallbladder cancer organoids

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Human Gallbladder Cancer Organoids.”

thalassemia beta-thalassemia HBB/LCRBResearch

A new publication explores the clinical paradoxes associated with non-transfusion-dependent β-thalassemia, shedding light on its complexities. This research may inform future therapeutic strategies and patient management.

non transfusion dependent thalassemia a disease of clinical paradoxes

PubMed Rare Disease·2 months ago·Read at source →

Original title: “Non-transfusion-dependent β-thalassemia: A disease of clinical paradoxes.”

Previous135 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Research identifies biallelic VPS41 variants as a cause of autosomal recessive spinocerebellar ataxia 29 through long-read sequencing and RNA analysis. This discovery enhances understanding of the genetic underpinnings of this rare neurological disorder.

A recent study highlights the high responsiveness of head and neck kaposiform hemangioendothelioma to sirolimus monotherapy, particularly in cases without the Kasabach-Merritt phenomenon. This finding could inform treatment strategies for this rare vascular tumor.

Peptide Dissolved in Alkaline Buffer with Blocking Significantly Enhances Performance of Synthetic Peptide-Displaying Surfaces in Supporting Human Pluripotent Stem Cell Culture.

Recent research highlights advances in understanding adult-onset disorders of muscle lipid metabolism, shedding light on potential therapeutic targets. These findings could pave the way for new treatment strategies in this area.

A recent study evaluates the effectiveness of radioiodine therapy in managing pediatric differentiated thyroid cancer, suggesting that a less aggressive approach may be beneficial. This research could influence treatment protocols for this rare cancer in children.

A recent case report highlights the successful achievement of complete cytoreduction in a patient with stage IV renal carcinoma, despite multicompartment recurrence and peritoneal carcinomatosis. This case may provide insights into treatment strategies for advanced renal cancer.

A new qualitative study explores the intersection of autism and gender incongruence in adolescents, revealing a complex interplay of discomfort experienced by individuals. This research contributes to understanding the unique challenges faced by this population.

A recent study explores the role of electrophysiologists in diagnosing skeletal myopathy, specifically in a case of fukutin-related protein cardiomyopathy. This research highlights the potential for interdisciplinary approaches in rare disease diagnosis.

Recent research highlights metabolic alterations linked to immune dysfunction in lysinuric protein intolerance. This study provides insights that could inform future therapeutic strategies for managing the disease.

A case report highlights the radiologic evolution and developmental correlates in fetal cerebral sinovenous thrombosis. This study contributes to the understanding of the condition's impact on fetal development.

A new case report details unilateral short-root abnormality disease affecting multiple roots, contributing to the understanding of this rare condition. This study adds to the existing literature on dental anomalies and their implications.

Recent research highlights rare manifestations of giant cell arteritis, expanding the understanding of this condition. The findings may influence future diagnostic and treatment approaches for affected patients.

A new study explores the neuroimmunology of oral cancer, highlighting the relationship between tumor progression, systemic inflammation, and neural circuit dysfunction. The research provides insights into how these factors interact from the cerebellum to the frontal cortex.

A recent study published in PubMed explores the occurrence of simultaneous bilateral facial nerve palsy following childhood varicella infection. This research highlights a rare complication associated with varicella, contributing to the understanding of its neurological impacts.

Research on human gallbladder cancer organoids provides insights into tumor biology and potential therapeutic targets. This study may pave the way for personalized treatment strategies in gallbladder cancer.

A new publication explores the clinical paradoxes associated with non-transfusion-dependent β-thalassemia, shedding light on its complexities. This research may inform future therapeutic strategies and patient management.

Not rare diseases news,
news about your rare disease.