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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

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Research

Five years after disaster, a rare disease community gets new chance at treatment

Treatment & Clinical News·6 months ago·Read at source →

respiratory syncytial virus infectious disease respiratory syncytial virus bronchiolitisResearch

Recent research highlights the critical role of prefusion F antigens in the development of next-generation vaccines for respiratory syncytial virus (RSV). Advances in vaccine platforms could significantly improve prevention strategies against RSV, which affects millions of infants and elderly patients annually.

Epidemiology, Next-Generation Vaccine Platforms, and the Critical Role of Prefusion F Antigens in RSV Research

BioSpace·6 months ago·Read at source →

Original title: “Advances in RSV Vaccine Research and Development”

primary interstitial lung disease specific to childhood interstitial lung disease specific to childhoodResearch

A study from the chILD-EU registry reveals that malnutrition in childhood interstitial lung diseases correlates with reduced lung function and increased disease severity. This research highlights the critical need for nutritional interventions in affected pediatric populations.

malnutrition in childhood interstitial lung diseases is associated with reduced lung function and greater disease severity insights from the child eu registry

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Malnutrition in childhood interstitial lung diseases is associated with reduced lung function and greater disease severity: insights from the chILD-EU registry.”

Weil's disease Alzheimer disease+1 moreResearch

Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.

PubMed Rare Disease·6 months ago·Read at source →

Research

Induced pluripotent stem cell-based modeling of hemolytic anemia in patients with compound heterozygous KLF1 mutations reveals defective erythroid differentiation.

PubMed Rare Disease·6 months ago·Read at source →

acquired idiopathic inflammatory myopathy acquired idiopathic torsion dystonia+1 moreResearch

A case report highlights acquired idiopathic generalized anhidrosis as a late-onset immune-related adverse event in a lung adenocarcinoma patient treated with pembrolizumab. This finding contributes to the understanding of potential side effects associated with immune checkpoint inhibitors.

acquired idiopathic generalized anhidrosis as a late onset immune related adverse event of pembrolizumab in a patient with lung adenocarcinoma a case report and review of the literature

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Acquired Idiopathic Generalized Anhidrosis as a Late-Onset Immune-Related Adverse Event of Pembrolizumab in a Patient With Lung Adenocarcinoma: A Case Report and Review of the Literature.”

Turner syndrome Wilson-Turner syndromeResearch

A recent study highlights the phenotypic convergence and genotypic heterogeneity in familial Turner syndrome among two cousins. This research contributes to the understanding of the genetic variations associated with Turner syndrome.

familial turner syndrome with distinct karyotypes in two cousins phenotypic convergence and genotypic heterogeneity

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity.”

aplastic anemia idiopathic aplastic anemiaResearch

Research identifies somatic mutations in the CSK gene that disrupt immune regulation in patients with aplastic anemia. This study highlights potential genetic targets for future therapies in this rare blood disorder.

somatic mutations in csk disrupt immune regulation in a chinese aplastic anemia cohort

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Somatic mutations in CSK disrupt immune regulation in a Chinese aplastic anemia cohort.”

leishmaniasis leishmaniasis, diffuse cutaneousResearch

Research reveals that eprinomectin effectively inhibits Leishmania by inducing mitochondrial dysfunction and causing cell cycle arrest. This discovery could pave the way for new therapeutic strategies against leishmaniasis.

eprinomectin inhibits leishmania by inducing mitochondrial dysfunction and cell cycle arrest

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Eprinomectin Inhibits Leishmania by Inducing Mitochondrial Dysfunction and Cell Cycle Arrest.”

DiGeorge syndrome intestinal lymphangiectasia+1 moreResearch

A case report highlights profound protein-losing enteropathy and gastrointestinal hemorrhage due to intestinal lymphangiectasia in a patient with DiGeorge syndrome. This study contributes to the understanding of gastrointestinal complications associated with this genetic disorder.

playing catch up a case report of profound protein losing enteropathy and gastrointestinal haemorrhage from intestinal lymphangiectasia in digeorge syndrome

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Playing CATCH-up: a case report of profound protein-losing enteropathy and gastrointestinal haemorrhage from intestinal lymphangiectasia in DiGeorge syndrome.”

acromegalyResearch

Recent research highlights that the telomerase/shelterin system is impaired in acromegaly and Cushing's disease, suggesting potential pathophysiological implications. This discovery may open new avenues for understanding the mechanisms underlying these conditions.

telomerase shelterin system is impaired in acromegaly and cushing s disease potential pathophysiological relevance

PubMed Rare Disease·6 months ago·Read at source →

Original title: “The telomerase/shelterin system is impaired in acromegaly and Cushing´s disease: Potential pathophysiological relevance.”

Research

A recent study highlights the extraordinarily slow, non-metastatic progression of primary mediastinal small cell carcinoma, providing new insights into its clinical behavior. This research may influence future treatment strategies and patient management.

extraordinarily slow non metastatic progression of primary mediastinal small cell carcinoma

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Extraordinarily Slow, Non-Metastatic Progression of Primary Mediastinal Small Cell Carcinoma.”

sickle cell diseaseResearch

A case report highlights acute soft head syndrome as a rare complication of sickle cell anemia. This discovery adds to the understanding of potential complications associated with sickle cell disease.

acute soft head syndrome a rare complication of sickle cell anemia a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Acute Soft Head Syndrome, A Rare Complication of Sickle Cell Anemia: A Case Report.”

pancreatic neuroendocrine neoplasm pancreatic neuroendocrine tumor G1+1 moreResearch

A recent study identifies significant intra-pancreatic fat deposition as an independent prognostic factor in high-grade pancreatic neuroendocrine neoplasms. This discovery could influence future research and treatment strategies for this rare cancer type.

significant intra pancreatic fat deposition as an independent prognostic factor in high grade pancreatic neuroendocrine neoplasms

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Significant Intra-pancreatic Fat Deposition as an Independent Prognostic Factor in High-grade Pancreatic Neuroendocrine Neoplasms.”

retinitis pigmentosa retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndromeResearch

Recent studies highlight potential therapies targeting newly identified mutations in U6 and U4 snRNAs associated with retinitis pigmentosa. These findings could pave the way for innovative treatment strategies for this genetic eye disorder.

past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in u6 and u4 snrnas

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in U6 and U4 snRNAs.”

Research

A recent study published in PubMed explores microarray gene expression in lesional skin of dogs with vesicular cutaneous lupus erythematosus (VCLE). This research may provide insights into the molecular mechanisms underlying this rare autoimmune condition.

microarray gene expression analysis of lesional skin in canine vesicular cutaneous lupus erythematosus vcle

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Microarray Gene Expression Analysis of Lesional Skin in Canine Vesicular Cutaneous Lupus Erythematosus (VCLE).”

tuberculosis hepatic tuberculosis+1 moreResearch

A multicenter retrospective analysis by the Polish Adult Leukemia Group investigates tuberculosis occurrence and outcomes following hematopoietic cell transplantation. This study provides insights into the complications faced by leukemia patients post-transplant.

multicenter retrospective analysis by the polish adult leukemia group on tuberculosis occurrence and outcomes after hematopoietic cell transplantation

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Multicenter retrospective analysis by the Polish Adult Leukemia Group on tuberculosis occurrence and outcomes after hematopoietic cell transplantation.”

craniopharyngioma papillary craniopharyngioma+1 moreResearch

The OUTSPREAD study investigates the effects of growth hormone treatment on linear growth and metabolic outcomes in patients with childhood-onset craniopharyngioma. Findings contribute to understanding treatment impacts in this rare disease population.

linear growth and metabolic outcomes of growth hormone treatment in childhood onset craniopharyngioma the outspread study

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Linear growth and metabolic outcomes of growth hormone treatment in childhood-onset craniopharyngioma: the OUTSPREAD study.”

tuberculosis hepatic tuberculosis+1 moreResearch

A new consensus statement highlights the importance of integrating mental health management into tuberculosis care across the WHO European Region. This approach aims to improve overall patient outcomes by addressing the psychological aspects of TB treatment.

mental health management in the context of tb care in the who european region a consensus statement

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Mental health management in the context of TB care in the WHO European Region: a consensus statement.”

mucous membrane pemphigoidResearch

A recent study published in PubMed highlights the incidence and mortality rates of mucous membrane pemphigoid in France, providing valuable epidemiological data for researchers and healthcare professionals. This research contributes to the understanding of the disease's impact on patient populations.

incidence and mortality of mucous membrane pemphigoid in france

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Incidence and Mortality of Mucous Membrane Pemphigoid in France.”

Previous313 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Five years after disaster, a rare disease community gets new chance at treatment

A study from the chILD-EU registry reveals that malnutrition in childhood interstitial lung diseases correlates with reduced lung function and increased disease severity. This research highlights the critical need for nutritional interventions in affected pediatric populations.

Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.

Induced pluripotent stem cell-based modeling of hemolytic anemia in patients with compound heterozygous KLF1 mutations reveals defective erythroid differentiation.

A case report highlights acquired idiopathic generalized anhidrosis as a late-onset immune-related adverse event in a lung adenocarcinoma patient treated with pembrolizumab. This finding contributes to the understanding of potential side effects associated with immune checkpoint inhibitors.

A recent study highlights the phenotypic convergence and genotypic heterogeneity in familial Turner syndrome among two cousins. This research contributes to the understanding of the genetic variations associated with Turner syndrome.

Research identifies somatic mutations in the CSK gene that disrupt immune regulation in patients with aplastic anemia. This study highlights potential genetic targets for future therapies in this rare blood disorder.

Research reveals that eprinomectin effectively inhibits Leishmania by inducing mitochondrial dysfunction and causing cell cycle arrest. This discovery could pave the way for new therapeutic strategies against leishmaniasis.

A case report highlights profound protein-losing enteropathy and gastrointestinal hemorrhage due to intestinal lymphangiectasia in a patient with DiGeorge syndrome. This study contributes to the understanding of gastrointestinal complications associated with this genetic disorder.

Recent research highlights that the telomerase/shelterin system is impaired in acromegaly and Cushing's disease, suggesting potential pathophysiological implications. This discovery may open new avenues for understanding the mechanisms underlying these conditions.

A recent study highlights the extraordinarily slow, non-metastatic progression of primary mediastinal small cell carcinoma, providing new insights into its clinical behavior. This research may influence future treatment strategies and patient management.

A case report highlights acute soft head syndrome as a rare complication of sickle cell anemia. This discovery adds to the understanding of potential complications associated with sickle cell disease.

A recent study identifies significant intra-pancreatic fat deposition as an independent prognostic factor in high-grade pancreatic neuroendocrine neoplasms. This discovery could influence future research and treatment strategies for this rare cancer type.

Recent studies highlight potential therapies targeting newly identified mutations in U6 and U4 snRNAs associated with retinitis pigmentosa. These findings could pave the way for innovative treatment strategies for this genetic eye disorder.

A recent study published in PubMed explores microarray gene expression in lesional skin of dogs with vesicular cutaneous lupus erythematosus (VCLE). This research may provide insights into the molecular mechanisms underlying this rare autoimmune condition.

A multicenter retrospective analysis by the Polish Adult Leukemia Group investigates tuberculosis occurrence and outcomes following hematopoietic cell transplantation. This study provides insights into the complications faced by leukemia patients post-transplant.

The OUTSPREAD study investigates the effects of growth hormone treatment on linear growth and metabolic outcomes in patients with childhood-onset craniopharyngioma. Findings contribute to understanding treatment impacts in this rare disease population.

A new consensus statement highlights the importance of integrating mental health management into tuberculosis care across the WHO European Region. This approach aims to improve overall patient outcomes by addressing the psychological aspects of TB treatment.

Not rare diseases news,
news about your rare disease.