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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

Recent genome-wide association studies reveal insights into the genetic factors contributing to Alzheimer's disease, particularly focusing on the APOE gene. These findings enhance understanding of the disease's etiology and may inform future therapeutic strategies.

apoe stratified genome wide association analyses provide insights into the genetic etiology of alzheimers s disease

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

Original title: “APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease.”

bone marrow failure syndrome bone marrow failure syndrome 5Research

A recent study analyzes variants in telomere regulatory genes among subjects with bone marrow failure, providing insights into the genetic underpinnings of this condition. The findings may inform future research and therapeutic strategies.

genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure

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

Original title: “Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.”

nasal dermoid cyst isolated encephalocele+1 moreResearch

A recent study highlights the misdiagnosis of nasal dermoid cyst and encephalocele as dacryocystitis, emphasizing the need for accurate diagnosis in rare cases. This research contributes to the understanding of these conditions and their clinical implications.

coexistence of nasal dermoid cyst and encephalocele misdiagnosed as dacryocystitis

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

Original title: “Coexistence of nasal dermoid cyst and encephalocele misdiagnosed as dacryocystitis.”

Research

A new study explores the role of subcellular localization of AR-V7 as a dynamic biomarker for endocrine resistance in metastatic castration-resistant prostate cancer (mCRPC). This research could lead to improved patient stratification and treatment strategies.

beyond nuclear ar v7 rethinking subcellular localization as a dynamic biomarker of endocrine resistance in mcrpc

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

Original title: “Beyond nuclear AR-V7: rethinking subcellular localization as a dynamic biomarker of endocrine resistance in mCRPC.”

myocarditis acute myocarditis+1 moreResearch

A case report details a 35-year-old woman who developed life-threatening fulminant myocarditis following COVID-19 infection. This highlights potential severe cardiac complications associated with the virus.

35 year old woman presenting with life threatening fulminant myocarditis after covid 19 a case report

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

Original title: “A 35-Year-Old Woman Presenting With Life-Threatening Fulminant Myocarditis After COVID-19: A Case Report.”

Research

A recent case report and pooled narrative review on recurrent cardiac cephalalgia provides insights into this rare condition. The findings may enhance understanding and management strategies for affected patients.

recurrent cardiac cephalalgia a case report and pooled narrative review

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

Original title: “Recurrent Cardiac Cephalalgia: A Case Report and Pooled Narrative Review.”

pancreatic ductal adenocarcinoma pancreatic mucinous ductal ectasiaResearch

A case report highlights the concurrent presence of EGFR exon 19 deletion-insertion and germline BRCA1 alteration in a KRAS-wild-type pancreatic ductal adenocarcinoma patient. This finding may have significant therapeutic implications for targeted treatments in this rare cancer subtype.

concurrent egfr exon 19 deletion insertion and germline brca1 alteration in kras wild type pancreatic ductal adenocarcinoma a case report and review of therapeutic implications

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

Original title: “Concurrent EGFR exon 19 deletion-insertion and germline BRCA1 alteration in KRAS-wild-type pancreatic ductal adenocarcinoma: A case report and review of therapeutic implications.”

uterine carcinosarcomaResearch

A recent study on uterine carcinosarcoma reveals mutational profiling of p53 abnormal tumors, highlighting its association with histologic subtypes and survival outcomes in underserved populations. This research contributes to understanding the genetic landscape of this aggressive cancer.

uterine carcinosarcoma mutational profiling of p53 abnormal tumors and its association with histologic subtypes and survival in an underserved population

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

Original title: “Uterine Carcinosarcoma: Mutational Profiling of p53-Abnormal Tumors and Its Association with Histologic Subtypes and Survival in an Underserved Population.”

estrogen resistance syndrome partial androgen insensitivity syndromeResearch

Recent research highlights estrogen insensitivity syndrome as a significant condition linked to ESR1 mutations. This study provides insights into the molecular mechanisms underlying the disease, potentially guiding future therapeutic strategies.

estrogen insensitivity syndrome the upside down of esr1 mutations

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

Original title: “Estrogen insensitivity syndrome: the 'Upside Down' of ESR1 mutations.”

Research

A new publication discusses an interdisciplinary approach to therapy development for RP2-associated retinopathy. This research highlights collaborative strategies aimed at advancing treatment options for this rare retinal disease.

insightrp2 an interdisciplinary approach toward therapy development in rp2 associated retinopathy

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

Original title: “InsightRP2-An Interdisciplinary Approach Toward Therapy Development in RP2-Associated Retinopathy.”

SAPHO syndromeResearch

Research on pstpip2-deficient mouse models provides insights into the mechanisms of SAPHO syndrome, highlighting both their utility and translational limitations. This study contributes to the understanding of the disease's pathophysiology.

pstpip2 deficient mouse models in sapho syndrome research utility mechanistic insights and translational limitations

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

Original title: “Pstpip2-deficient mouse models in SAPHO syndrome research: Utility, mechanistic insights, and translational limitations.”

tetralogy of fallot tetralogy of fallot and glaucomaResearch

A new study explores the long-term outcomes of adults with repaired tetralogy of Fallot, focusing on right ventricular remodeling and potential targeted interventions. This research highlights the need for ongoing management strategies in this patient population.

repaired tetralogy of fallot across adulthood from right ventricular remodelling to targeted intervention

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

Original title: “Repaired tetralogy of Fallot across adulthood: from right ventricular remodelling to targeted intervention.”

respiratory syncytial virus infectious disease respiratory syncytial virus bronchiolitisResearch

A study published in PubMed identifies a nirsevimab-resistant variant of RSV-B (F:K68Q) in an adult with severe infection. This discovery highlights potential challenges in treating respiratory syncytial virus infections with nirsevimab.

detection of a nirsevimab resistant rsv b variant f k68q in an adult with severe infection

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

Original title: “Detection of a Nirsevimab-Resistant RSV-B Variant (F:K68Q) in an Adult with Severe Infection.”

spirochaetales infections deltaretrovirus infections+1 moreResearch

A cohort study published in PubMed investigates infections caused by extended-spectrum beta-lactamase producing Enterobacterales (ESBL-E) in hospital patients, comparing 2,971 carriers to 2,971 non-carriers. The findings highlight the clinical implications of ESBL-E infections in healthcare settings.

enemy in our gut infections due to extended spectrum beta lactamase producing enterobacterales esbl e in hospital patients a cohort study comparing 2971 esbl e carriers and 2971 non carriers

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

Original title: “The enemy in our gut? Infections due to extended-spectrum beta-lactamase producing Enterobacterales (ESBL-E) in hospital patients: a cohort study comparing 2971 ESBL-E-carriers and 2971 non-carriers.”

sclerosing hepatic carcinomaResearch

A recent study discusses a case of aggressive hepatic carcinoma reclassified as cholangioblastic cholangiocarcinoma, successfully treated with liver transplantation. This retrospective analysis may provide insights into treatment approaches for this rare cancer type.

aggressive hepatic carcinoma consistent with cholangioblastic cholangiocarcinoma treated with liver transplantation a retrospectively reclassified case

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

Original title: “Aggressive hepatic carcinoma consistent with cholangioblastic cholangiocarcinoma treated with liver transplantation: a retrospectively reclassified case.”

Research

A nationwide study in France examines the use of Sotatercept since its availability in June 2024, providing insights into its real-world application. The findings contribute to understanding the drug's impact on patient outcomes in the rare disease community.

use of sotatercept in france since its availability in june 2024 a nationwide study from the french health data system snds

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

Original title: “Use of Sotatercept in France since Its Availability in June 2024: A Nationwide Study from the French Health Data System (SNDS).”

Research

A study identifies a de novo triplication at 16p13.3 as a genetic cause of early-onset complex neurodegeneration. This discovery enhances understanding of the genetic underpinnings of neurodegenerative diseases.

de novo 16p13 3 triplication underlying early onset complex neurodegeneration

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

Original title: “A De Novo 16p13.3 Triplication Underlying Early-Onset Complex Neurodegeneration.”

biliary tract cancer biliary tract disorder+1 moreResearch

A new study explores the molecular subtyping of biliary tract neuroendocrine carcinomas, highlighting key clinicopathological features and their prognostic implications. This research could inform future therapeutic strategies for this rare cancer type.

molecular subtyping of biliary tract neuroendocrine carcinomas clinicopathological features and prognostic implications

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

Original title: “Molecular Subtyping of Biliary Tract Neuroendocrine Carcinomas: Clinicopathological Features and Prognostic Implications.”

idiopathic recurrent pericarditis idiopathic recurrent stuporResearch

Research indicates that goflikicept may modulate immune responses in patients with idiopathic recurrent pericarditis, as revealed by single-cell RNA profiling. This study could pave the way for new therapeutic strategies in managing this condition.

single cell rna profiling suggests goflikicept mediated immune modulation in idiopathic recurrent pericarditis

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

Original title: “Single-cell RNA profiling suggests goflikicept-mediated immune modulation in idiopathic recurrent pericarditis.”

lysosomal storage diseaseResearch

Recent research highlights the potential of biologic therapies in mitigating neurodegeneration associated with lysosomal storage diseases. This study contributes to the growing body of evidence supporting innovative treatment approaches for these complex conditions.

biologic therapies for alleviating neurodegeneration in lysosomal storage diseases

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

Original title: “Biologic Therapies for Alleviating Neurodegeneration in Lysosomal Storage Diseases.”

Previous100 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Recent genome-wide association studies reveal insights into the genetic factors contributing to Alzheimer's disease, particularly focusing on the APOE gene. These findings enhance understanding of the disease's etiology and may inform future therapeutic strategies.

A recent study analyzes variants in telomere regulatory genes among subjects with bone marrow failure, providing insights into the genetic underpinnings of this condition. The findings may inform future research and therapeutic strategies.

A recent study highlights the misdiagnosis of nasal dermoid cyst and encephalocele as dacryocystitis, emphasizing the need for accurate diagnosis in rare cases. This research contributes to the understanding of these conditions and their clinical implications.

A new study explores the role of subcellular localization of AR-V7 as a dynamic biomarker for endocrine resistance in metastatic castration-resistant prostate cancer (mCRPC). This research could lead to improved patient stratification and treatment strategies.

A case report details a 35-year-old woman who developed life-threatening fulminant myocarditis following COVID-19 infection. This highlights potential severe cardiac complications associated with the virus.

A recent case report and pooled narrative review on recurrent cardiac cephalalgia provides insights into this rare condition. The findings may enhance understanding and management strategies for affected patients.

A case report highlights the concurrent presence of EGFR exon 19 deletion-insertion and germline BRCA1 alteration in a KRAS-wild-type pancreatic ductal adenocarcinoma patient. This finding may have significant therapeutic implications for targeted treatments in this rare cancer subtype.

A recent study on uterine carcinosarcoma reveals mutational profiling of p53 abnormal tumors, highlighting its association with histologic subtypes and survival outcomes in underserved populations. This research contributes to understanding the genetic landscape of this aggressive cancer.

Recent research highlights estrogen insensitivity syndrome as a significant condition linked to ESR1 mutations. This study provides insights into the molecular mechanisms underlying the disease, potentially guiding future therapeutic strategies.

A new publication discusses an interdisciplinary approach to therapy development for RP2-associated retinopathy. This research highlights collaborative strategies aimed at advancing treatment options for this rare retinal disease.

Research on pstpip2-deficient mouse models provides insights into the mechanisms of SAPHO syndrome, highlighting both their utility and translational limitations. This study contributes to the understanding of the disease's pathophysiology.

A new study explores the long-term outcomes of adults with repaired tetralogy of Fallot, focusing on right ventricular remodeling and potential targeted interventions. This research highlights the need for ongoing management strategies in this patient population.

A study published in PubMed identifies a nirsevimab-resistant variant of RSV-B (F:K68Q) in an adult with severe infection. This discovery highlights potential challenges in treating respiratory syncytial virus infections with nirsevimab.

A recent study discusses a case of aggressive hepatic carcinoma reclassified as cholangioblastic cholangiocarcinoma, successfully treated with liver transplantation. This retrospective analysis may provide insights into treatment approaches for this rare cancer type.

A nationwide study in France examines the use of Sotatercept since its availability in June 2024, providing insights into its real-world application. The findings contribute to understanding the drug's impact on patient outcomes in the rare disease community.

A study identifies a de novo triplication at 16p13.3 as a genetic cause of early-onset complex neurodegeneration. This discovery enhances understanding of the genetic underpinnings of neurodegenerative diseases.

A new study explores the molecular subtyping of biliary tract neuroendocrine carcinomas, highlighting key clinicopathological features and their prognostic implications. This research could inform future therapeutic strategies for this rare cancer type.

Research indicates that goflikicept may modulate immune responses in patients with idiopathic recurrent pericarditis, as revealed by single-cell RNA profiling. This study could pave the way for new therapeutic strategies in managing this condition.

Recent research highlights the potential of biologic therapies in mitigating neurodegeneration associated with lysosomal storage diseases. This study contributes to the growing body of evidence supporting innovative treatment approaches for these complex conditions.

Not rare diseases news,
news about your rare disease.