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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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isolated hyperferritinemiaResearch

A study published in PubMed reveals that clinical exome sequencing in unexplained hyperferritinemia uncovers digenic and oligogenic inheritance patterns, extending beyond traditional iron homeostasis. This research could inform future genetic testing and treatment strategies for affected patients.

clinical exome sequencing in unexplained hyperferritinemia reveals digenic and oligogenic inheritance beyond iron homeostasis

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.”

cancer esophageal cancer+1 moreResearch

A new NIH-funded breakthrough has developed a smaller CRISPR gene-editing system that enhances precision delivery within the body. This advancement could significantly expand treatment options for diseases such as cancer and amyotrophic lateral sclerosis (ALS).

Smaller gene-editing system could expand treatment options for cancer, ALS and other diseases.

NIH News·7 months ago·Read at source →

Original title: “NIH-funded breakthrough shrinks CRISPR for precision delivery in the body”

Castleman disease multicentric Castleman diseaseResearch

A study analyzing 700 patients reveals new insights into the full spectrum of Castleman diseases. This research enhances understanding of the disease's clinical manifestations and may inform future treatment strategies.

deciphering the full spectrum of castleman diseases based on a cohort of 700 patients in a western country

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Deciphering the full spectrum of Castleman diseases based on a cohort of 700 patients in a western country.”

Research

A systematic review evaluates the clinical evidence for cell-based therapies in treating spinocerebellar degenerations. This review highlights the potential of these therapies, although further research is needed to establish efficacy.

cell based therapies for spinocerebellar degenerations a systematic review of human clinical evidence

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Cell-Based Therapies for Spinocerebellar Degenerations: A Systematic Review of Human Clinical Evidence.”

Research

A case report details the occurrence of Takotsubo syndrome following emergency decompression for acute cervical spinal epidural hematoma. This highlights a potential complication in patients undergoing spinal procedures.

takotsubo syndrome following emergency decompression for acute cervical spinal epidural hematoma a case report

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Takotsubo Syndrome Following Emergency Decompression for Acute Cervical Spinal Epidural Hematoma: A Case Report.”

spinal muscular atrophy infantile-onset X-linked spinal muscular atrophyResearch

Research indicates that haloperidol may provide neuroprotection and improve neuromuscular function in models of spinal muscular atrophy. This study highlights potential new therapeutic avenues for SMA treatment.

haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

Recent studies on seladelpar demonstrate its efficacy and safety in treating patients with primary biliary cholangitis and compensated cirrhosis. The RESPONSE and ASSURE studies provide valuable insights into its therapeutic potential.

seladelpar in patients with primary biliary cholangitis and compensated cirrhosis efficacy and safety from response and assure studies

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Seladelpar in patients with primary biliary cholangitis and compensated cirrhosis: Efficacy and safety from RESPONSE and ASSURE studies.”

Adams-Oliver syndrome Adams-Oliver syndrome 5+1 moreResearch

Recent research identifies mutations in the VCP gene as a cause of Adams-Oliver syndrome, which may occur with or without pulmonary hypertension. This discovery enhances understanding of the genetic basis of this rare condition.

mutations in vcp cause adams oliver syndrome with or without pulmonary hypertension

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.”

mitochondrial disease HSD10 mitochondrial diseaseResearch

Research identifies biallelic variants in the CHCHD4 gene as a cause of combined oxidative phosphorylation (OXPHOS) defects, contributing to mitochondrial disease. This discovery enhances understanding of the genetic basis of mitochondrial disorders.

biallelic variants in chchd4 are associated with combined oxphos defect leading to mitochondrial disease

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.”

Research

A recent publication emphasizes the ongoing significance of single-center studies in pediatric cardiology, even amidst the rise of big data. The authors argue that these studies can provide valuable insights that large-scale data may overlook.

enduring value of single center studies in the era of big data a message to early career pediatric cardiologist

PubMed Rare Disease·7 months ago·Read at source →

Original title: “The enduring value of single-center studies in the era of big data: A message to early career pediatric cardiologist.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

A recent study investigates fracture risk associated with selective and non-selective PPAR agonists in patients with primary biliary cholangitis. The findings contribute to understanding the safety profile of these treatments in this patient population.

fracture risk under selective and non selective ppar agonists in primary biliary cholangitis

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Fracture risk under selective and non-selective PPAR agonists in primary biliary cholangitis.”

Research

A recent study highlights how the length of the 5' UTR influences the production of alternative N-terminal protein isoforms in various cancers and rare diseases. This research could provide insights into the molecular mechanisms underlying these conditions.

5 utr length shapes alternative n terminal protein isoforms across cancers and in rare disease

PubMed Rare Disease·7 months ago·Read at source →

Original title: “5' UTR length shapes alternative N-terminal protein isoforms across cancers and in rare disease.”

ventricular septal defect ventricular septal defect 2+1 moreResearch

A recent study details a surgical repair technique for supracristal ventricular septal defect in an elderly patient, utilizing a transaortic approach. This research contributes to the understanding of surgical interventions for complex cardiac conditions.

surgical repair of supracristal ventricular septal defect with combined multivalvular disease in an elderly patient a transaortic approach

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Surgical repair of supracristal ventricular septal defect with combined multivalvular disease in an elderly patient: A transaortic approach.”

Research

A nationwide longitudinal cohort study investigates the link between ambient nitrogen dioxide exposure and lipid profiles, highlighting spatial heterogeneity and population susceptibility. This research could inform public health strategies regarding air quality and cardiovascular health.

spatial heterogeneity and population susceptibility in the association between ambient nitrogen dioxide exposure and lipid profiles a nationwide longitudinal cohort

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Spatial heterogeneity and population susceptibility in the association between ambient nitrogen dioxide exposure and lipid profiles: a nationwide longitudinal cohort.”

inborn errors of metabolism inborn disorder of purine or pyrimidine metabolismResearch

A recent study emphasizes the importance of effective communication regarding treatment options for inborn errors of metabolism. This research highlights the need for improved dialogue between healthcare providers and patients to enhance understanding and decision-making.

new treatments novel conversations a need to study the science of communication about treatment options for inborn errors of metabolism

PubMed Rare Disease·7 months ago·Read at source →

Original title: “New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of Metabolism.”

respiratory syncytial virus infectious disease respiratory syncytial virus bronchiolitisResearch

A randomized trial evaluated the immunogenicity and safety of co-administering an adjuvanted respiratory syncytial virus vaccine with a 20-valent pneumococcal conjugate vaccine in adults aged 60 and older. The study aims to inform vaccination strategies for this age group, particularly in the context of respiratory infections.

immunogenicity and safety of co administration of adjuvanted respiratory syncytial virus prefusion f protein vaccine with 20 valent pneumococcal conjugate vaccine in adults aged 60 years a randomized non inferiority trial

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Immunogenicity and safety of co-administration of adjuvanted respiratory syncytial virus prefusion F protein vaccine with 20-valent pneumococcal conjugate vaccine in adults aged ≥60 years: a randomized, non-inferiority trial.”

pulmonary fibrosisResearch

A case report highlights pulmonary fibrosis associated with a rare SFTPC variant (c.304G>A, p.Val102Met). This discovery adds to the understanding of genetic factors influencing pulmonary fibrosis.

pulmonary fibrosis with a rare sftpc variant c 304g a p val102met a case report

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Pulmonary fibrosis with a rare SFTPC variant (c.304G>A, p.Val102Met): A case report.”

Research

New research highlights how dietary factors influence exposure to volatile organic compounds and their effects on biological aging. This study provides insights into the complex interactions between diet and environmental exposures in aging processes.

dietary factors drive volatile organic compound exposure and modulate its impact on multi dimensional biological aging

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Dietary Factors Drive Volatile Organic Compound Exposure and Modulate Its Impact on Multi-Dimensional Biological Aging.”

Research

A study published on PubMed details the clinicopathologic features of six cases of primary cardiac synovial sarcoma, contributing to the understanding of this rare disease. The findings provide valuable insights for clinicians and researchers in the field.

primary cardiac synovial sarcoma pcss clinicopathologic features of 6 cases and literature comparison

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Primary Cardiac Synovial Sarcoma (PCSS): Clinicopathologic Features of 6 Cases and Literature Comparison.”

Research

A case report highlights the occurrence of early pannus formation following transcatheter heart valve implantation, which resulted in delayed coronary obstruction. This finding may have implications for patient monitoring and management post-procedure.

early pannus after transcatheter heart valve implantation leading to delayed coronary obstruction a case report

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Early pannus after transcatheter heart valve implantation leading to delayed coronary obstruction: a case report.”

Previous369 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A study published in PubMed reveals that clinical exome sequencing in unexplained hyperferritinemia uncovers digenic and oligogenic inheritance patterns, extending beyond traditional iron homeostasis. This research could inform future genetic testing and treatment strategies for affected patients.

A new NIH-funded breakthrough has developed a smaller CRISPR gene-editing system that enhances precision delivery within the body. This advancement could significantly expand treatment options for diseases such as cancer and amyotrophic lateral sclerosis (ALS).

A study analyzing 700 patients reveals new insights into the full spectrum of Castleman diseases. This research enhances understanding of the disease's clinical manifestations and may inform future treatment strategies.

A systematic review evaluates the clinical evidence for cell-based therapies in treating spinocerebellar degenerations. This review highlights the potential of these therapies, although further research is needed to establish efficacy.

A case report details the occurrence of Takotsubo syndrome following emergency decompression for acute cervical spinal epidural hematoma. This highlights a potential complication in patients undergoing spinal procedures.

Research indicates that haloperidol may provide neuroprotection and improve neuromuscular function in models of spinal muscular atrophy. This study highlights potential new therapeutic avenues for SMA treatment.

Recent studies on seladelpar demonstrate its efficacy and safety in treating patients with primary biliary cholangitis and compensated cirrhosis. The RESPONSE and ASSURE studies provide valuable insights into its therapeutic potential.

Recent research identifies mutations in the VCP gene as a cause of Adams-Oliver syndrome, which may occur with or without pulmonary hypertension. This discovery enhances understanding of the genetic basis of this rare condition.

Research identifies biallelic variants in the CHCHD4 gene as a cause of combined oxidative phosphorylation (OXPHOS) defects, contributing to mitochondrial disease. This discovery enhances understanding of the genetic basis of mitochondrial disorders.

A recent publication emphasizes the ongoing significance of single-center studies in pediatric cardiology, even amidst the rise of big data. The authors argue that these studies can provide valuable insights that large-scale data may overlook.

A recent study investigates fracture risk associated with selective and non-selective PPAR agonists in patients with primary biliary cholangitis. The findings contribute to understanding the safety profile of these treatments in this patient population.

A recent study highlights how the length of the 5' UTR influences the production of alternative N-terminal protein isoforms in various cancers and rare diseases. This research could provide insights into the molecular mechanisms underlying these conditions.

A recent study details a surgical repair technique for supracristal ventricular septal defect in an elderly patient, utilizing a transaortic approach. This research contributes to the understanding of surgical interventions for complex cardiac conditions.

A nationwide longitudinal cohort study investigates the link between ambient nitrogen dioxide exposure and lipid profiles, highlighting spatial heterogeneity and population susceptibility. This research could inform public health strategies regarding air quality and cardiovascular health.

A recent study emphasizes the importance of effective communication regarding treatment options for inborn errors of metabolism. This research highlights the need for improved dialogue between healthcare providers and patients to enhance understanding and decision-making.

A case report highlights pulmonary fibrosis associated with a rare SFTPC variant (c.304G>A, p.Val102Met). This discovery adds to the understanding of genetic factors influencing pulmonary fibrosis.

New research highlights how dietary factors influence exposure to volatile organic compounds and their effects on biological aging. This study provides insights into the complex interactions between diet and environmental exposures in aging processes.

A study published on PubMed details the clinicopathologic features of six cases of primary cardiac synovial sarcoma, contributing to the understanding of this rare disease. The findings provide valuable insights for clinicians and researchers in the field.

A case report highlights the occurrence of early pannus formation following transcatheter heart valve implantation, which resulted in delayed coronary obstruction. This finding may have implications for patient monitoring and management post-procedure.

Not rare diseases news,
news about your rare disease.