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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

CRISPR mediated PRRS resistant pigs: biological success, welfare implications, and ethical regulatory challenges for sustainable swine production.

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

gastritis autoimmune hepatitisResearch

A case report highlights gastritis cystica profunda in a patient with autoimmune hepatitis undergoing immunosuppression. This finding contributes to the understanding of gastrointestinal complications in autoimmune conditions.

gastritis cystica profunda occurring under immunosuppression a case report of a patient with autoimmune hepatitis

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

Original title: “Gastritis cystica profunda occurring under immunosuppression: A case report of a patient with autoimmune hepatitis.”

pleomorphic rhabdomyosarcoma childhood pleomorphic rhabdomyosarcoma+1 moreResearch

A study of 39 mismatch repair-deficient sarcomas reveals recurrent histologic patterns, advocating for universal screening of pleomorphic rhabdomyosarcoma, uterine leiomyosarcoma, and undifferentiated and unclassified sarcomas. This research could influence future diagnostic and treatment strategies.

clinicopathologic study of 39 mismatch repair deficient sarcomas demonstrates recurrent histologic patterns and supports universal screening of pleomorphic rhabdomyosarcoma uterine leiomyosarcoma and undifferentiated and unclassified sarcomas

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

Original title: “Clinicopathologic Study of 39 Mismatch Repair-deficient Sarcomas Demonstrates Recurrent Histologic Patterns and Supports Universal Screening of Pleomorphic Rhabdomyosarcoma, Uterine Leiomyosarcoma, and Undifferentiated and Unclassified Sarcomas.”

heart failure congestive heart failure+1 moreResearch

A study highlights the successful use of left ventricular assist devices (LVADs) over thirteen years as a bridge to heart transplantation, demonstrating their potential in transitioning patients from childhood to adulthood. This research underscores the importance of long-term mechanical support in pediatric heart failure management.

thirteen years of continuous lvad support an extraordinary bridge to heart transplantation from childhood to adulthood

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

Original title: “Thirteen years of continuous LVAD support: An extraordinary bridge to heart transplantation from childhood to adulthood.”

adenoid cystic carcinoma esophageal adenoid cystic carcinoma+1 moreResearch

A recent case series published on PubMed highlights findings from 26 patients with adenoid cystic carcinoma of the breast. This research contributes to the understanding of this rare breast cancer subtype.

adenoid cystic carcinoma of the breast a case series of 26 patients

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

Original title: “Adenoid cystic carcinoma of the breast: a case series of 26 patients.”

sclerosing cholangitis primary sclerosing cholangitis+1 moreResearch

A study published in PubMed explores the use of salvage tacrolimus therapy for patients with steroid-refractory immune-related adverse event-associated sclerosing cholangitis. This research highlights a potential treatment avenue for a challenging condition often seen in cancer immunotherapy.

salvage tacrolimus therapy for steroid refractory immune related adverse event associated sclerosing cholangitis

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

Original title: “Salvage tacrolimus therapy for steroid-refractory immune-related adverse event-associated sclerosing cholangitis.”

Research

A study published in PubMed highlights the effectiveness of Mucorales PCR for the rapid diagnosis of mucormycosis over six years in a national reference laboratory. This advancement could significantly improve early detection and treatment outcomes for patients suffering from this serious fungal infection.

mucorales pcr for the rapid diagnosis of mucormycosis 6 years of testing in a national reference laboratory and tertiary hospital

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

Original title: “Mucorales PCR for the rapid diagnosis of mucormycosis: 6 years of testing in a national reference laboratory and tertiary hospital.”

Research

A new study explores the progressive transformation of germinal centers, enhancing diagnostic precision in rare diseases. The findings bridge clinical and pathological insights, potentially improving patient outcomes.

progressive transformation of germinal centers bridging clinical and pathological insights for diagnostic precision

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

Original title: “Progressive transformation of germinal centers: Bridging clinical and pathological insights for diagnostic precision.”

myocardial infarction subendocardial myocardial infarctionResearch

A recent study published in PubMed discusses the diagnosis of intramyocardial dissecting hematoma following myocardial infarction using multimodality imaging techniques. This research contributes to the understanding of post-myocardial infarction complications.

intramyocardial dissecting hematoma after myocardial infarction diagnosed by multimodality imaging

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

Original title: “Intramyocardial Dissecting Hematoma After Myocardial Infarction Diagnosed by Multimodality Imaging.”

necrotizing soft tissue infectionResearch

A multicentre retrospective cohort study identifies key factors associated with in-hospital mortality in necrotising soft tissue infections. This research provides insights that could inform clinical practices and improve patient outcomes.

factors associated with in hospital mortality in necrotising soft tissue infections a multicentre retrospective cohort study

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

Original title: “Factors associated with in-hospital mortality in necrotising soft tissue infections. a multicentre retrospective cohort study.”

colorectal cancerResearch

Research identifies TTI1 as a novel Wnt/β-catenin target gene that reduces chemotherapy sensitivity in colorectal cancer by influencing DNA damage responses. This discovery could inform future therapeutic strategies for enhancing treatment efficacy.

telo2 interacting protein 1 tti1 a novel wnt catenin target gene decreases chemo sensitivity in colorectal cancer by modulating dna damage responses

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

Original title: “TELO2-interacting protein 1 (TTI1), a novel Wnt/β-catenin target gene, decreases chemo-sensitivity in colorectal cancer by modulating DNA damage responses.”

malaria Plasmodium vivax malariaResearch

Research reveals conserved genetic and antigenic profiles of Pf12 and Pf41 in asymptomatic carriers of Plasmodium falciparum in Tanzania. This study enhances understanding of malaria's genetic diversity and potential implications for vaccine development.

conserved genetic and antigenic profiles of pf12 and pf41 in asymptomatic plasmodium falciparum carriers in tanzania

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

Original title: “Conserved genetic and antigenic profiles of Pf12 and Pf41 in asymptomatic Plasmodium falciparum carriers in Tanzania.”

neurodegenerative disease idiopathicResearch

A recent study from the FinnGen biobank provides genetic insights into neurodegenerative diseases and idiopathic normal pressure hydrocephalus. The findings enhance understanding of these conditions, potentially guiding future research and therapeutic strategies.

biobank based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus insights and lessons learned from finngen

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

Original title: “Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen.”

Research

A recent study refines prognostication for DNM1 encephalopathy, identifying a mild phenotype linked to a GTPase domain variant. This research enhances understanding of the disease's clinical spectrum and may inform future patient management.

refining domain based prognostication in dnm1 encephalopathy a mild phenotype associated with a gtpase domain variant

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

Original title: “Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.”

pancreatic intraductal papillary-mucinous neoplasm type 2 diabetes mellitus+1 moreResearch

A recent study highlights the impact of intraductal papillary mucinous neoplasm on glycemic control in a patient with type 2 diabetes mellitus. This research underscores the need for further investigation into the relationship between pancreatic neoplasms and diabetes management.

intraductal papillary mucinous neoplasm worsening glycemic control in a patient with type 2 diabetes mellitus

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

Original title: “Intraductal Papillary Mucinous Neoplasm Worsening Glycemic Control in a Patient with Type 2 Diabetes Mellitus.”

ameloblastoma bone ameloblastoma+1 moreResearch

A recent study highlights targetable alterations in ameloblastoma, paving the way for personalized treatment strategies. This prospective observational study contributes valuable insights into precision oncology for this rare tumor type.

targetable alterations and personalized treatment in ameloblastoma results from a prospective observational precision oncology study

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

Original title: “Targetable alterations and personalized treatment in ameloblastoma: results from a prospective observational precision oncology study.”

Research

A recent study highlights how genomic co-alterations and immune-related adverse events influence treatment outcomes in thymic malignancies when using immune checkpoint inhibitors. This research provides insights that could guide future therapeutic strategies for these rare tumors.

genomic co alterations and immune related adverse events shape outcomes of thymic malignancies treated with immune checkpoint inhibitors

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

Original title: “Genomic co-alterations and immune-related adverse events shape outcomes of thymic malignancies treated with immune checkpoint inhibitors.”

urea cycle disorder urea cycle disorder or inherited hyperammonemiaResearch

A recent study highlights the identification of a rare proximal urea cycle disorder in adults, triggered by an ammonia storm. This discovery may lead to improved diagnosis and management strategies for affected individuals.

ammonia storm unmasking a suspected rare proximal urea cycle disorder in adulthood

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

Original title: “Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood.”

Research

A case report highlights Boerhaave's syndrome potentially linked to the use of glucagon-like peptide-1 receptor agonists. This finding may prompt further investigation into the safety profile of these medications.

boerhaave s syndrome associated with glucagon like peptide 1 receptor agonist use a case report

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

Original title: “Boerhaave's syndrome associated with glucagon-like peptide-1 receptor agonist use: a case report.”

Research

A multicenter study investigates clinical features and outcomes in Eastern patients with anti-IgLON5 disease, providing insights into HLA subtypes associated with this rare condition. The findings may enhance understanding and management of the disease.

clinical features outcome and hla subtypes in eastern patients with anti iglon5 disease a multicenter study

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

Original title: “Clinical features, outcome and HLA subtypes in Eastern patients with anti-IgLON5 disease: a multicenter study.”

Previous246 / 486Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

CRISPR mediated PRRS resistant pigs: biological success, welfare implications, and ethical regulatory challenges for sustainable swine production.

A case report highlights gastritis cystica profunda in a patient with autoimmune hepatitis undergoing immunosuppression. This finding contributes to the understanding of gastrointestinal complications in autoimmune conditions.

A recent case series published on PubMed highlights findings from 26 patients with adenoid cystic carcinoma of the breast. This research contributes to the understanding of this rare breast cancer subtype.

A study published in PubMed explores the use of salvage tacrolimus therapy for patients with steroid-refractory immune-related adverse event-associated sclerosing cholangitis. This research highlights a potential treatment avenue for a challenging condition often seen in cancer immunotherapy.

A new study explores the progressive transformation of germinal centers, enhancing diagnostic precision in rare diseases. The findings bridge clinical and pathological insights, potentially improving patient outcomes.

A recent study published in PubMed discusses the diagnosis of intramyocardial dissecting hematoma following myocardial infarction using multimodality imaging techniques. This research contributes to the understanding of post-myocardial infarction complications.

A multicentre retrospective cohort study identifies key factors associated with in-hospital mortality in necrotising soft tissue infections. This research provides insights that could inform clinical practices and improve patient outcomes.

Research identifies TTI1 as a novel Wnt/β-catenin target gene that reduces chemotherapy sensitivity in colorectal cancer by influencing DNA damage responses. This discovery could inform future therapeutic strategies for enhancing treatment efficacy.

Research reveals conserved genetic and antigenic profiles of Pf12 and Pf41 in asymptomatic carriers of Plasmodium falciparum in Tanzania. This study enhances understanding of malaria's genetic diversity and potential implications for vaccine development.

A recent study from the FinnGen biobank provides genetic insights into neurodegenerative diseases and idiopathic normal pressure hydrocephalus. The findings enhance understanding of these conditions, potentially guiding future research and therapeutic strategies.

A recent study refines prognostication for DNM1 encephalopathy, identifying a mild phenotype linked to a GTPase domain variant. This research enhances understanding of the disease's clinical spectrum and may inform future patient management.

A recent study highlights the impact of intraductal papillary mucinous neoplasm on glycemic control in a patient with type 2 diabetes mellitus. This research underscores the need for further investigation into the relationship between pancreatic neoplasms and diabetes management.

A recent study highlights targetable alterations in ameloblastoma, paving the way for personalized treatment strategies. This prospective observational study contributes valuable insights into precision oncology for this rare tumor type.

A recent study highlights how genomic co-alterations and immune-related adverse events influence treatment outcomes in thymic malignancies when using immune checkpoint inhibitors. This research provides insights that could guide future therapeutic strategies for these rare tumors.

A recent study highlights the identification of a rare proximal urea cycle disorder in adults, triggered by an ammonia storm. This discovery may lead to improved diagnosis and management strategies for affected individuals.

A case report highlights Boerhaave's syndrome potentially linked to the use of glucagon-like peptide-1 receptor agonists. This finding may prompt further investigation into the safety profile of these medications.

A multicenter study investigates clinical features and outcomes in Eastern patients with anti-IgLON5 disease, providing insights into HLA subtypes associated with this rare condition. The findings may enhance understanding and management of the disease.

Not rare diseases news,
news about your rare disease.