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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

Unusual Presentation of Syphilis a Case Report: Areolar Condyloma Lata in a Patient with Human Immunodeficiency Virus Infection.

PubMed Rare Disease·8 months ago·Read at source →

Birk-Barel syndromeResearch

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

PubMed Rare Disease·8 months ago·Read at source →

pigmented paravenous retinochoroidal atrophyResearch

A systematic review on pigmented paravenous retinochoroidal atrophy (PPRCA) has been published, providing insights into its clinical features and potential management strategies. This review consolidates existing knowledge and may guide future research directions.

pigmented paravenous retinochoroidal atrophy pprca a systematic review

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Pigmented paravenous retinochoroidal atrophy (PPRCA): a systematic review.”

Research

Recent research explores the relationship between ageing and pituitary neuroendocrine tumors (PitNETs), providing insights from laboratory findings to clinical applications. This study may enhance understanding of PitNETs and inform future therapeutic strategies.

ageing and pituitary neuroendocrine tumours pitnets from bench to bedside

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Ageing and pituitary neuroendocrine tumours (PitNETs): from bench to bedside.”

Research

A new publication discusses the diagnosis and management of primary cardiac lymphomas, highlighting the complexities involved in treatment. This research contributes to the understanding of this rare disease and may inform future clinical practices.

primary cardiac lymphomas diagnosis and management

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Primary Cardiac Lymphomas: Diagnosis and Management.”

acute liver failure COVID-19Research

A case report details acute liver failure in a patient following a recent COVID-19 infection, necessitating liver transplantation. This highlights potential severe complications associated with COVID-19 that may require further investigation.

acute liver failure in a patient with recent coronavirus disease 2019 infection requiring liver transplantation a case report

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Acute liver failure in a patient with recent coronavirus disease 2019 infection requiring liver transplantation: a case report.”

neonatal sepsisResearch

A multi-omics analysis highlights the significant role of gut microbiota in tryptophan and glutathione metabolism related to sepsis-associated encephalopathy. This research could inform future therapeutic strategies for managing this condition.

multi omics analysis reveals the critical role of gut microbiota related tryptophan and glutathione metabolism in sepsis associated encephalopathy

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Multi-omics analysis reveals the critical role of gut microbiota related tryptophan and glutathione metabolism in sepsis-associated encephalopathy.”

Research

A new publication discusses the integration of artificial intelligence in neurology, highlighting both its potential benefits and risks. The paper outlines a roadmap for responsible implementation in clinical practice.

artificial intelligence in neurology practice promise perils and a roadmap for responsible integration

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Artificial intelligence in neurology practice: promise, perils, and a roadmap for responsible integration.”

cancer esophageal cancerResearch

A systematic review and meta-analysis explores the impact of microbiome-modulating strategies on cancer patients undergoing immunotherapy. The findings suggest potential benefits in enhancing treatment efficacy, although specific outcomes and methodologies require further investigation.

impact of microbiome modulating strategies in cancer patients receiving immunotherapy msit a systematic review and meta analysis

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Impact of microbiome-modulating strategies in cancer patients receiving immunotherapy (MSIT): A systematic review and meta-analysis.”

Research

A phase 1/2a trial investigates the use of human umbilical cord mesenchymal stromal cells for treating neuromyelitis optica spectrum disorder. This study contributes to the understanding of potential cellular therapies for this rare condition.

human umbilical cord mesenchymal stromal cells therapy for neuromyelitis optica spectrum disorder a phase 1 2a trial

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Human umbilical cord mesenchymal stromal cells therapy for neuromyelitis optica spectrum disorder: a phase 1/2a trial.”

Research

A recent study highlights allelic variation in the ATP7B gene promoter, which may influence phenotype variability and neurodegeneration, as well as platinum resistance in tumor diseases. This research could have implications for understanding treatment responses in affected patients.

allelic variation in the atp7b gene promoter implications for phenotype variability neurodegeneration and pt resistance in tumor diseases

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases.”

COVID-19Research

A systematic review evaluates the efficacy of extended nirmatrelvir-ritonavir treatment for patients with persistent COVID-19 symptoms. The analysis includes individual patient data, providing insights into treatment outcomes.

extended nirmatrelvir ritonavir for persistent covid 19 systematic review with individual patient data

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Extended Nirmatrelvir-Ritonavir for Persistent COVID-19: Systematic Review with Individual Patient Data.”

osteogenesis imperfecta osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndromeResearch

A study published in PubMed reveals that elevated serum periostin levels in adults with osteogenesis imperfecta correlate with disease severity. This finding may provide insights into potential biomarkers for monitoring disease progression.

elevated periostin level in serum of adults with osteogenesis imperfecta is associated with disease severity

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Elevated periostin level in serum of adults with Osteogenesis Imperfecta is associated with disease severity.”

keratitis keratitis fugax hereditaria+1 moreResearch

A case report highlights severe mpox keratitis leading to significant visual impairment in a patient with advanced HIV. This study underscores the potential complications of mpox in immunocompromised individuals.

severe mpox keratitis resulting in significant visual impairment in a patient with advanced hiv a case report

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Severe Mpox keratitis resulting in significant visual impairment in a patient with advanced HIV: A case report.”

Research

Research utilizing machine learning has uncovered new signatures of antifungal drug resistance in Saccharomycotina yeasts. This discovery could inform future treatment strategies for infections caused by these yeasts.

machine learning identifies novel signatures of antifungal drug resistance in saccharomycotina yeasts

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Machine learning identifies novel signatures of antifungal drug resistance in Saccharomycotina yeasts.”

Susac syndromeResearch

A recent study highlights the successful reperfusion of retinal arteriolar occlusion in a pediatric patient with Susac syndrome following the initiation of immunosuppressive therapy. This finding contributes to the understanding of treatment responses in rare neurological conditions.

reperfusion of retinal arteriolar occlusion after initiation of immunosuppressive therapy in pediatric susac syndrome

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Reperfusion of Retinal Arteriolar Occlusion After Initiation of Immunosuppressive Therapy in Pediatric Susac Syndrome.”

spinocerebellar ataxia type 6 spinocerebellar ataxia type 31Research

A study published in PubMed explores quantitative susceptibility mapping of iron in the dentate nucleus for spinocerebellar ataxia types 6 and 31. The findings provide insights into the pathological changes associated with these rare diseases.

quantitative susceptibility mapping of dentate nucleus iron in sca6 and sca31 comparison with pathological findings

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.”

eosinophilic gastrointestinal diseaseResearch

A recent study published in PubMed highlights the prevalence and economic burden of non-esophageal eosinophilic gastrointestinal diseases in the United States. This research provides valuable insights into the healthcare costs associated with these conditions, which may inform future treatment and policy decisions.

prevalence and costs of non esophageal eosinophilic gastrointestinal diseases in the united states

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Prevalence and Costs of Non-esophageal Eosinophilic Gastrointestinal Diseases in the United States.”

autism spectrum disorder autism spectrum disorder 2+1 moreResearch

New research highlights the reciprocal regulation between the autism risk gene POGZ and the circadian clock, suggesting potential implications for understanding autism spectrum disorders. This study may pave the way for future investigations into the genetic and environmental interactions affecting circadian rhythms in autism.

reciprocal regulation between autism risk gene pogz and circadian clock

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Reciprocal regulation between autism risk gene POGZ and circadian clock.”

Research

Recent research indicates that gait adaptability training significantly enhances gait performance in patients with spinocerebellar ataxia. This finding suggests potential therapeutic strategies to improve mobility in affected individuals.

gait adaptability training improves gait in spinocerebellar ataxia patients

PubMed Rare Disease·8 months ago·Read at source →

Original title: “Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients.”

Previous398 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Unusual Presentation of Syphilis a Case Report: Areolar Condyloma Lata in a Patient with Human Immunodeficiency Virus Infection.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

A systematic review on pigmented paravenous retinochoroidal atrophy (PPRCA) has been published, providing insights into its clinical features and potential management strategies. This review consolidates existing knowledge and may guide future research directions.

Recent research explores the relationship between ageing and pituitary neuroendocrine tumors (PitNETs), providing insights from laboratory findings to clinical applications. This study may enhance understanding of PitNETs and inform future therapeutic strategies.

A new publication discusses the diagnosis and management of primary cardiac lymphomas, highlighting the complexities involved in treatment. This research contributes to the understanding of this rare disease and may inform future clinical practices.

A case report details acute liver failure in a patient following a recent COVID-19 infection, necessitating liver transplantation. This highlights potential severe complications associated with COVID-19 that may require further investigation.

A multi-omics analysis highlights the significant role of gut microbiota in tryptophan and glutathione metabolism related to sepsis-associated encephalopathy. This research could inform future therapeutic strategies for managing this condition.

A new publication discusses the integration of artificial intelligence in neurology, highlighting both its potential benefits and risks. The paper outlines a roadmap for responsible implementation in clinical practice.

A systematic review and meta-analysis explores the impact of microbiome-modulating strategies on cancer patients undergoing immunotherapy. The findings suggest potential benefits in enhancing treatment efficacy, although specific outcomes and methodologies require further investigation.

A phase 1/2a trial investigates the use of human umbilical cord mesenchymal stromal cells for treating neuromyelitis optica spectrum disorder. This study contributes to the understanding of potential cellular therapies for this rare condition.

A recent study highlights allelic variation in the ATP7B gene promoter, which may influence phenotype variability and neurodegeneration, as well as platinum resistance in tumor diseases. This research could have implications for understanding treatment responses in affected patients.

A systematic review evaluates the efficacy of extended nirmatrelvir-ritonavir treatment for patients with persistent COVID-19 symptoms. The analysis includes individual patient data, providing insights into treatment outcomes.

A study published in PubMed reveals that elevated serum periostin levels in adults with osteogenesis imperfecta correlate with disease severity. This finding may provide insights into potential biomarkers for monitoring disease progression.

A case report highlights severe mpox keratitis leading to significant visual impairment in a patient with advanced HIV. This study underscores the potential complications of mpox in immunocompromised individuals.

Research utilizing machine learning has uncovered new signatures of antifungal drug resistance in Saccharomycotina yeasts. This discovery could inform future treatment strategies for infections caused by these yeasts.

A recent study highlights the successful reperfusion of retinal arteriolar occlusion in a pediatric patient with Susac syndrome following the initiation of immunosuppressive therapy. This finding contributes to the understanding of treatment responses in rare neurological conditions.

A study published in PubMed explores quantitative susceptibility mapping of iron in the dentate nucleus for spinocerebellar ataxia types 6 and 31. The findings provide insights into the pathological changes associated with these rare diseases.

Recent research indicates that gait adaptability training significantly enhances gait performance in patients with spinocerebellar ataxia. This finding suggests potential therapeutic strategies to improve mobility in affected individuals.

Not rare diseases news,
news about your rare disease.