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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

A recent review highlights the clinical and therapeutic advancements in pediatric Fas-associated death domain protein deficiency. This comprehensive analysis expands understanding of the disease and potential treatment avenues.

current review of pediatric fas associated death domain protein deficiency expanding clinical and therapeutic perspectives

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

Original title: “Current review of pediatric Fas-associated death domain protein deficiency: expanding clinical and therapeutic perspectives.”

pemphigus erythematosus pemphigusResearch

A case report highlights the successful treatment of pemphigus erythematosus using the JAK1 inhibitor upadacitinib. This study contributes to the growing body of literature on targeted therapies for autoimmune skin diseases.

pemphigus erythematosus treated with jak1 inhibitor upadacitinib a case report and brief literature review

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

Original title: “Pemphigus Erythematosus Treated with JAK1 Inhibitor Upadacitinib: A Case Report and Brief Literature Review.”

Research

A recent study published in PubMed highlights the prevalence of sleep disorders among adults with Cri du Chat syndrome, utilizing a questionnaire-based approach. This research underscores the need for targeted interventions to address sleep issues in this population.

sleep disorders in adults with cri du chat syndrome a questionnaire based study

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

Original title: “Sleep disorders in adults with Cri du Chat syndrome: A questionnaire-based study.”

ankylosing spondylitis juvenile ankylosing spondylitisResearch

A recent case report highlights severe aplastic anemia as a rare autoimmune complication of ankylosing spondylitis. This finding may prompt further research into the relationship between these conditions.

severe aplastic anemia as a rare autoimmune complication of ankylosing spondylitis a rare case report

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

Original title: “Severe aplastic anemia as a rare autoimmune complication of ankylosing spondylitis: A rare case report.”

endolymphatic sac tumorResearch

A recent study published on PubMed details the use of Gamma Knife radiosurgery for treating endolymphatic sac tumors, showcasing a single-institution experience. This research contributes to the understanding of treatment options for this rare tumor type.

gamma knife radiosurgery for endolymphatic sac tumors a single institution experience

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

Original title: “Gamma Knife Radiosurgery for Endolymphatic Sac Tumors: A Single-Institution Experience.”

gastric cancer hereditary gastric cancer+1 moreResearch

A recent study published in PubMed highlights global trends in gastric cancer burden among adolescents and young adults, utilizing GBD 2021 data. This observational research provides valuable insights into the epidemiology of gastric cancer in younger populations.

global trends in gastric cancer burden among adolescents and young adults a population based observational study using gbd 2021 data

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

Original title: “Global trends in gastric cancer burden among adolescents and young adults: A population-based observational study using GBD 2021 data.”

Research

A systematic review and meta-analysis on surgical outcomes of appendiceal mucinous neoplasms has been published, providing insights into treatment efficacy and patient prognosis. This research contributes to the understanding of surgical interventions for this rare condition.

surgical outcomes of appendiceal mucinous neoplasms a systematic review and meta analysis

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

Original title: “Surgical outcomes of appendiceal mucinous neoplasms: A systematic review and meta-analysis.”

Research

A recent study highlights the potential of precision medicine in addressing rare diseases in the MENA region. The research emphasizes the need for tailored approaches to improve patient outcomes and leverage local genetic data.

unlocking mena s potential in rare disease precision medicine

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

Original title: “Unlocking MENA's potential in rare-disease precision medicine.”

cystinosis juvenile nephropathic cystinosis+1 moreResearch

A new study explores the pathogenesis and outcomes of metabolic bone disease associated with cystinosis. This research provides insights that could inform future therapeutic strategies for affected patients.

cystinosis associated metabolic bone disease pathogenesis and outcome

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

Original title: “Cystinosis-associated metabolic bone disease: pathogenesis and outcome.”

primary sclerosing cholangitis sclerosing cholangitisResearch

Research highlights that gut microbiota-derived imidazole propionate may promote primary sclerosing cholangitis through p38 signaling pathways. This discovery could open new avenues for understanding the disease's mechanisms.

gut microbiota derived imidazole propionate promotes primary sclerosing cholangitis via p38 signalling

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

Original title: “Gut microbiota-derived imidazole propionate promotes primary sclerosing cholangitis via p38 signalling.”

Research

A case report highlights a rare instance of blastemal-predominant primary extrarenal nephroblastoma in an infant, associated with lumbosacral lipomeningocele. This focused review contributes to the understanding of these rare conditions.

blastemal predominant primary extrarenal nephroblastoma associated with lumbosacral lipomeningocele in an infant a case report and focused review

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

Original title: “Blastemal-Predominant Primary Extrarenal Nephroblastoma Associated with Lumbosacral Lipomeningocele in an Infant: A Case Report and Focused Review.”

carcinoma ex pleomorphic adenoma parotid gland carcinoma ex pleomorphic adenomaResearch

A new study identifies the 'black ring sign' as a potential diagnostic marker in carcinoma ex pleomorphic adenoma. This discovery could enhance the accuracy of diagnoses in this rare tumor type.

i saw the sign the black ring sign in carcinoma ex pleomorphic adenoma

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

Original title: “I saw the sign: The black ring sign in carcinoma ex pleomorphic adenoma.”

Research

A recent study evaluates the costs associated with implementing tick management plans in high-use recreational areas of Monmouth County, New Jersey. This research highlights the financial implications of managing tick populations to reduce disease transmission risks.

assessment of costs for implementation of park specific tick management plans for selected high use recreational areas in monmouth county new jersey

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

Original title: “Assessment of costs for implementation of park specific tick management plans for selected high-use recreational areas in Monmouth County, New Jersey.”

mucosal melanomaResearch

A study analyzing 1481 patients with mucosal melanoma in the Netherlands reveals key metastatic patterns and main driver mutations. The research also evaluates the efficacy of various therapeutic strategies, contributing valuable insights to the understanding of this rare cancer.

mucosal melanoma in 1481 patients in the netherlands an overview of metastatic patterns main driver mutations and the efficacy of therapeutic strategies

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

Original title: “Mucosal melanoma in 1481 patients in the Netherlands. An overview of metastatic patterns, main driver mutations and the efficacy of therapeutic strategies.”

Research

Markel launches rare disease trial travel reimbursement scheme

Treatment & Clinical News·2 months ago·Read at source →

Research

A 2023 survey reveals that 70% of investigative site staff find clinical trials increasingly complex, leading to delayed decisions and reduced visibility for sponsors. This highlights the need for improved management and communication strategies in clinical research.

Clinical trials are becoming increasingly complex. In a 2023 survey, 70% of investigative site staff said conducting studies had become more difficult over the previous five years. For sponsors, this shows up as delayed decisions, duplicated effort and reduced visibility across their studies. The challenge is rarely a lack of information. More often, it stems […]

Pharma Times·2 months ago·Read at source →

Original title: “Connected trials”

generalized pustular psoriasis psoriasis 14, pustularResearch

A Phase 2 randomized trial demonstrates the efficacy and safety of recibokibart, an interleukin-36 receptor antibody, in treating generalized pustular psoriasis. This study contributes valuable data to the understanding of targeted therapies for this rare skin condition.

efficacy and safety of recibokibart an interleukin 36 receptor antibody in generalized pustular psoriasis a phase 2 randomized trial

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

Original title: “Efficacy and Safety of Recibokibart, an Interleukin-36 Receptor Antibody, in Generalized Pustular Psoriasis: A Phase 2 Randomized Trial.”

Research

From consent to participatory governance: The need for multi-stakeholder alignment in iPSC-based drug repurposing.

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

Research

A case report highlights biallelic loss-of-function variants in the ABCA13 gene associated with neurodevelopmental delay in a child. This discovery may provide insights into the genetic underpinnings of neurodevelopmental disorders.

biallelic abca13 loss of function variants in a child with neurodevelopmental delay a case report

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

Original title: “Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.”

syphilis latent syphilis+1 moreResearch

A study provides molecular and serological evidence of systemic Treponema pallidum infection in wild western chimpanzees, highlighting potential zoonotic implications. This research contributes to understanding the disease's transmission dynamics in wildlife.

molecular and serological evidence of systemic treponema pallidum infection in wild western chimpanzees

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

Original title: “Molecular and serological evidence of systemic Treponema pallidum infection in wild western chimpanzees.”

Previous118 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent review highlights the clinical and therapeutic advancements in pediatric Fas-associated death domain protein deficiency. This comprehensive analysis expands understanding of the disease and potential treatment avenues.

A case report highlights the successful treatment of pemphigus erythematosus using the JAK1 inhibitor upadacitinib. This study contributes to the growing body of literature on targeted therapies for autoimmune skin diseases.

A recent study published in PubMed highlights the prevalence of sleep disorders among adults with Cri du Chat syndrome, utilizing a questionnaire-based approach. This research underscores the need for targeted interventions to address sleep issues in this population.

A recent case report highlights severe aplastic anemia as a rare autoimmune complication of ankylosing spondylitis. This finding may prompt further research into the relationship between these conditions.

A recent study published on PubMed details the use of Gamma Knife radiosurgery for treating endolymphatic sac tumors, showcasing a single-institution experience. This research contributes to the understanding of treatment options for this rare tumor type.

A recent study published in PubMed highlights global trends in gastric cancer burden among adolescents and young adults, utilizing GBD 2021 data. This observational research provides valuable insights into the epidemiology of gastric cancer in younger populations.

A systematic review and meta-analysis on surgical outcomes of appendiceal mucinous neoplasms has been published, providing insights into treatment efficacy and patient prognosis. This research contributes to the understanding of surgical interventions for this rare condition.

A recent study highlights the potential of precision medicine in addressing rare diseases in the MENA region. The research emphasizes the need for tailored approaches to improve patient outcomes and leverage local genetic data.

A new study explores the pathogenesis and outcomes of metabolic bone disease associated with cystinosis. This research provides insights that could inform future therapeutic strategies for affected patients.

Research highlights that gut microbiota-derived imidazole propionate may promote primary sclerosing cholangitis through p38 signaling pathways. This discovery could open new avenues for understanding the disease's mechanisms.

A case report highlights a rare instance of blastemal-predominant primary extrarenal nephroblastoma in an infant, associated with lumbosacral lipomeningocele. This focused review contributes to the understanding of these rare conditions.

A new study identifies the 'black ring sign' as a potential diagnostic marker in carcinoma ex pleomorphic adenoma. This discovery could enhance the accuracy of diagnoses in this rare tumor type.

A recent study evaluates the costs associated with implementing tick management plans in high-use recreational areas of Monmouth County, New Jersey. This research highlights the financial implications of managing tick populations to reduce disease transmission risks.

A study analyzing 1481 patients with mucosal melanoma in the Netherlands reveals key metastatic patterns and main driver mutations. The research also evaluates the efficacy of various therapeutic strategies, contributing valuable insights to the understanding of this rare cancer.

Markel launches rare disease trial travel reimbursement scheme

A 2023 survey reveals that 70% of investigative site staff find clinical trials increasingly complex, leading to delayed decisions and reduced visibility for sponsors. This highlights the need for improved management and communication strategies in clinical research.

A Phase 2 randomized trial demonstrates the efficacy and safety of recibokibart, an interleukin-36 receptor antibody, in treating generalized pustular psoriasis. This study contributes valuable data to the understanding of targeted therapies for this rare skin condition.

From consent to participatory governance: The need for multi-stakeholder alignment in iPSC-based drug repurposing.

A case report highlights biallelic loss-of-function variants in the ABCA13 gene associated with neurodevelopmental delay in a child. This discovery may provide insights into the genetic underpinnings of neurodevelopmental disorders.

A study provides molecular and serological evidence of systemic Treponema pallidum infection in wild western chimpanzees, highlighting potential zoonotic implications. This research contributes to understanding the disease's transmission dynamics in wildlife.

Not rare diseases news,
news about your rare disease.