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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 case report highlights durable disease control in a patient with POLE-mutated dedifferentiated endometrial carcinoma and brain metastases following a multidisciplinary treatment that included pembrolizumab. This finding may inform future therapeutic strategies for similar cases.

durable disease control following multidisciplinary treatment including pembrolizumab in pole mutated dedifferentiated endometrial carcinoma with brain metastases a case report

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

Original title: “Durable disease control following multidisciplinary treatment including pembrolizumab in POLE-mutated dedifferentiated endometrial carcinoma with brain metastases: A case report.”

progressive familial intrahepatic cholestasis type 1Research

A recent study published in PubMed explores the genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1, identifying novel variants in the ATP8B1 gene. The research highlights important genotype-phenotype correlations that could inform future therapeutic strategies.

genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1 novel atp8b1 variants and genotype phenotype correlations

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

Original title: “Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.”

Research

A new collaborative initiative in the Middle East aims to address undiagnosed diseases through enhanced research and data sharing. This effort seeks to improve diagnosis and treatment options for patients suffering from rare conditions.

middle east collaborative for undiagnosed diseases

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

Original title: “A Middle East collaborative for undiagnosed diseases.”

Research

A recent study highlights the genomic landscape of the human vaginal microbiome, revealing its connection to host genetics and population origin. This research may provide insights into how genetic factors influence microbiome composition.

publisher correction genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin

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

Original title: “Publisher Correction: Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin.”

Research

A case report highlights the repeated responses of nasal NUT carcinoma to multimodal treatment, including radiotherapy. This study contributes to the understanding of treatment efficacy for this rare cancer.

nasal nut carcinoma with repeated responses during multimodal treatment incorporating radiotherapy a case report

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

Original title: “Nasal NUT carcinoma with repeated responses during multimodal treatment incorporating radiotherapy: A case report.”

collagenous gastritis pediatric collagenous gastritisResearch

A recent publication details two case reports of collagenous gastritis in pediatric patients, contributing to the understanding of this rare condition. The literature review highlights the clinical features and potential management strategies for affected children.

collagenous gastritis in pediatric patients two case reports and literature review

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

Original title: “Collagenous gastritis in pediatric patients: Two case reports and literature review.”

chronic thromboembolic pulmonary hypertensionResearch

Recent research highlights the activation of ribosomal-related pathways in endothelial cells associated with chronic thromboembolic pulmonary hypertension. This study provides insights into the molecular mechanisms underlying this rare disease.

endothelial cell transcriptomics reveal activation of ribosomal related pathways in chronic thromboembolic pulmonary hypertension

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

Original title: “Endothelial Cell Transcriptomics Reveal Activation of Ribosomal-related Pathways in Chronic Thromboembolic Pulmonary Hypertension.”

eosinophilic gastritisResearch

A recent study highlights the significant burden of eosinophilic gastritis, emphasizing diagnostic challenges and unmet needs in patient care. The findings call for increased awareness and research to address these gaps in understanding and managing the disease.

eosinophilic gastritis burden of disease diagnostic challenges and unmet needs

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

Original title: “Eosinophilic gastritis: burden of disease, diagnostic challenges and unmet needs.”

Research

A recent review highlights the resurgence of vaccine-preventable diseases and its implications for pediatric surgical and perioperative care. This analysis underscores the need for heightened awareness and preparedness among healthcare providers.

review the return of vaccine preventable diseases implications for pediatric surgical and perioperative care

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

Original title: “Review: The Return of Vaccine-Preventable Diseases: Implications for Pediatric Surgical and Perioperative Care.”

malakoplakia colonic malakoplakiaResearch

A recent study explores imaging findings of malakoplakia that can mimic colonic tumors, highlighting non-surgical management strategies and follow-up protocols. This research contributes to the understanding of malakoplakia's clinical presentation and management.

malakoplakia mimicking a colonic tumour imaging findings non surgical management and follow up

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

Original title: “Malakoplakia mimicking a colonic tumour: imaging findings, non-surgical management and follow up.”

Research

A novel TRAC variant has been identified as the cause of autosomal recessive TCR-alpha/beta deficient immunodeficiency 7. This discovery enhances understanding of the genetic basis of this immunodeficiency disorder.

novel trac variant causing autosomal recessive tcr alpha beta deficient immunodeficiency 7

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

Original title: “Novel TRAC variant causing autosomal recessive TCR-alpha/beta deficient immunodeficiency 7.”

Research

A new study discusses the challenges in drug repurposing for rare diseases, highlighting the disparity between clinical success and regulatory approval. The findings emphasize the need for improved strategies to facilitate the transition from successful clinical outcomes to regulatory acceptance.

bridging the translational gap in drug repurposing for rare diseases clinical success versus regulatory conversion

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

Original title: “Bridging the translational gap in drug repurposing for rare diseases: clinical success versus regulatory conversion.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A real-life analysis from the EUSTAR database investigates the long-term outcomes of proton pump inhibitor use in patients with systemic sclerosis. The study provides insights into treatment efficacy and patient management strategies.

proton pump inhibitor use and long term outcomes in systemic sclerosis a real life analysis from the eustar database

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

Original title: “Proton pump inhibitor use and long-term outcomes in systemic sclerosis: a real-life analysis from the EUSTAR database.”

tuberculosis hepatic tuberculosis+1 moreResearch

A recent study published in PubMed evaluates the clinical outcomes of arthroscopic treatment for shoulder joint tuberculosis. The findings contribute to the understanding of effective surgical interventions for this rare condition.

clinical outcomes of arthroscopic treatment for shoulder joint tuberculosis

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

Original title: “Clinical Outcomes of Arthroscopic Treatment for Shoulder Joint Tuberculosis.”

pulmonary arterial hypertension idiopathic pulmonary arterial hypertension+1 moreResearch

A recent study explores catestatin and thrombospondin-1 as potential biomarkers for assessing disease severity and treatment response in pulmonary arterial hypertension. This research could pave the way for improved patient monitoring and therapeutic strategies.

exploratory assessment of catestatin and thrombospondin 1 as potential biomarkers of disease severity and treatment response in pulmonary arterial hypertension

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

Original title: “Exploratory assessment of catestatin and thrombospondin-1 as potential biomarkers of disease severity and treatment response in pulmonary arterial hypertension.”

Research

A study discusses the implementation of a domain-adapted GPT model to enhance genetic counseling in a genodermatology clinic. This innovative approach aims to improve patient support and information dissemination in the field of genetic skin disorders.

implementing a domain adapted gpt model to support genetic counseling in a genodermatology clinic

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

Original title: “Implementing a Domain-Adapted GPT Model to Support Genetic Counseling in a Genodermatology Clinic.”

ichthyosis-intellectual disability-dwarfism-renal impairment syndromeResearch

A multi-ancestry genome-wide association study identifies genetic variants linked to renal impairment in patients with decompensated cirrhosis. This research enhances understanding of genetic risk factors in this patient population.

genetic variants and the risk of renal impairment in decompensated cirrhosis a multi ancestry genome wide association study

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

Original title: “Genetic variants and the risk of renal impairment in decompensated cirrhosis: a multi-ancestry genome-wide association study.”

dry eye syndromeResearch

A first-in-human study has been conducted on mucoadhesive recombinant human catalase for treating dry eye disease, showcasing advancements from protein engineering. This research could pave the way for new therapeutic options in managing this condition.

mucoadhesive recombinant human catalase for dry eye disease from protein engineering to first in human study

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

Original title: “Mucoadhesive recombinant human catalase for dry eye disease: From protein engineering to first-in-human study.”

Research

A recent study published in PubMed highlights a case of metastatic SMARCA4-deficient undifferentiated tumor affecting the gingiva. This research contributes to the understanding of rare tumors associated with SMARCA4 mutations.

metastatic smarca4 deficient undifferentiated tumor involving the gingiva

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

Original title: “Metastatic SMARCA4-deficient undifferentiated tumor involving the gingiva.”

myeloproliferative neoplasmResearch

A recent study published in PubMed highlights the ophthalmological and epidemiological profiles of Brazilian patients with Philadelphia-negative myeloproliferative neoplasms. This research provides valuable insights into the disease's impact on patient health and may inform future clinical approaches.

ophthalmological and epidemiological profiles of brazilian patients with philadelphia negative myeloproliferative neoplasms

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

Original title: “Ophthalmological and epidemiological profiles of Brazilian patients with philadelphia-negative Myeloproliferative neoplasms.”

Previous90 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report highlights durable disease control in a patient with POLE-mutated dedifferentiated endometrial carcinoma and brain metastases following a multidisciplinary treatment that included pembrolizumab. This finding may inform future therapeutic strategies for similar cases.

A recent study published in PubMed explores the genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1, identifying novel variants in the ATP8B1 gene. The research highlights important genotype-phenotype correlations that could inform future therapeutic strategies.

A new collaborative initiative in the Middle East aims to address undiagnosed diseases through enhanced research and data sharing. This effort seeks to improve diagnosis and treatment options for patients suffering from rare conditions.

A recent study highlights the genomic landscape of the human vaginal microbiome, revealing its connection to host genetics and population origin. This research may provide insights into how genetic factors influence microbiome composition.

A case report highlights the repeated responses of nasal NUT carcinoma to multimodal treatment, including radiotherapy. This study contributes to the understanding of treatment efficacy for this rare cancer.

A recent publication details two case reports of collagenous gastritis in pediatric patients, contributing to the understanding of this rare condition. The literature review highlights the clinical features and potential management strategies for affected children.

Recent research highlights the activation of ribosomal-related pathways in endothelial cells associated with chronic thromboembolic pulmonary hypertension. This study provides insights into the molecular mechanisms underlying this rare disease.

A recent study highlights the significant burden of eosinophilic gastritis, emphasizing diagnostic challenges and unmet needs in patient care. The findings call for increased awareness and research to address these gaps in understanding and managing the disease.

A recent review highlights the resurgence of vaccine-preventable diseases and its implications for pediatric surgical and perioperative care. This analysis underscores the need for heightened awareness and preparedness among healthcare providers.

A recent study explores imaging findings of malakoplakia that can mimic colonic tumors, highlighting non-surgical management strategies and follow-up protocols. This research contributes to the understanding of malakoplakia's clinical presentation and management.

A novel TRAC variant has been identified as the cause of autosomal recessive TCR-alpha/beta deficient immunodeficiency 7. This discovery enhances understanding of the genetic basis of this immunodeficiency disorder.

A new study discusses the challenges in drug repurposing for rare diseases, highlighting the disparity between clinical success and regulatory approval. The findings emphasize the need for improved strategies to facilitate the transition from successful clinical outcomes to regulatory acceptance.

A real-life analysis from the EUSTAR database investigates the long-term outcomes of proton pump inhibitor use in patients with systemic sclerosis. The study provides insights into treatment efficacy and patient management strategies.

A recent study published in PubMed evaluates the clinical outcomes of arthroscopic treatment for shoulder joint tuberculosis. The findings contribute to the understanding of effective surgical interventions for this rare condition.

A recent study explores catestatin and thrombospondin-1 as potential biomarkers for assessing disease severity and treatment response in pulmonary arterial hypertension. This research could pave the way for improved patient monitoring and therapeutic strategies.

A study discusses the implementation of a domain-adapted GPT model to enhance genetic counseling in a genodermatology clinic. This innovative approach aims to improve patient support and information dissemination in the field of genetic skin disorders.

A multi-ancestry genome-wide association study identifies genetic variants linked to renal impairment in patients with decompensated cirrhosis. This research enhances understanding of genetic risk factors in this patient population.

A first-in-human study has been conducted on mucoadhesive recombinant human catalase for treating dry eye disease, showcasing advancements from protein engineering. This research could pave the way for new therapeutic options in managing this condition.

A recent study published in PubMed highlights a case of metastatic SMARCA4-deficient undifferentiated tumor affecting the gingiva. This research contributes to the understanding of rare tumors associated with SMARCA4 mutations.

Not rare diseases news,
news about your rare disease.