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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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congenital adrenal hyperplasiaResearch

A comprehensive review highlights the clinical spectrum, diagnostic strategies, and management approaches for congenital adrenal hyperplasia in children. This study provides valuable insights for healthcare professionals involved in the care of affected patients.

congenital adrenal hyperplasia in children a comprehensive review of clinical spectrum diagnostic strategies and management approaches

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approaches.”

acute myeloid leukemiaResearch

A recent study explores the relationship between relapsing-remitting perimyocarditis and emerging acute myeloid leukemia, highlighting potential connections that warrant further investigation. This research could inform future therapeutic strategies for these conditions.

relapsing remitting perimyocarditis and emerging acute myeloid leukemia

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Relapsing-Remitting Perimyocarditis and Emerging Acute Myeloid Leukemia.”

Research

A qualitative analysis explores the role of surrogate endpoints in cost-effectiveness analysis for health technology assessment. This research could influence future evaluations of rare disease treatments.

surrogate endpoints in cost effectiveness analysis for use in health technology assessment a qualitative analysis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Surrogate endpoints in cost-effectiveness analysis for use in health technology assessment - a qualitative analysis.”

hepatic porphyriaResearch

A recent study highlights the prevalence of autonomic and small fiber neuropathy in patients with acute hepatic porphyrias. This research adds to the understanding of neurological complications associated with this rare disease.

autonomic and small fiber neuropathy in patients with acute hepatic porphyrias

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Autonomic and small fiber neuropathy in patients with acute hepatic porphyrias.”

acromegalyResearch

Researchers have developed a long-acting allosteric antagonist targeting the growth hormone receptor for the treatment of acromegaly. This advancement could enhance treatment options for patients suffering from this rare endocrine disorder.

development and characterization of a long acting allosteric growth hormone receptor antagonist for acromegaly

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Development and Characterization of a Long-Acting Allosteric Growth Hormone Receptor Antagonist for Acromegaly.”

Research

A recent study highlights a presumed fatal bronchospasm linked to adenosine used in assessing fractional flow reserve. This finding raises concerns about the safety of adenosine in clinical settings.

presumed fatal bronchospasm from adenosine administered for assessment of fractional flow reserve

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Presumed Fatal Bronchospasm From Adenosine Administered for Assessment of Fractional Flow Reserve.”

streptococcus, group A, severity of infection byResearch

A case study highlights an esophageal perforation linked to pharyngotonsillitis and Streptococcus anginosus group infection. This research contributes to understanding the complications associated with these infections.

case of esophageal perforation associated with pharyngotonsillitis and streptococcus anginosus group infection

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A case of esophageal perforation associated with pharyngotonsillitis and Streptococcus anginosus group infection.”

Research

A multicenter study by the Fetal Heart Society investigates fetal cardiomyopathy, providing insights into its contemporary management and outcomes. This research highlights the evolving understanding of this condition and its implications for prenatal care.

fetal cardiomyopathy in the contemporary era a multicenter fetal heart society research collaborative study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Fetal Cardiomyopathy in the Contemporary Era: A Multicenter Fetal Heart Society Research Collaborative Study.”

multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2B+1 moreResearch

A multicenter study evaluates surgical morbidity and short-term oncologic outcomes following prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2 (MEN2). The findings contribute to understanding the benefits and risks associated with early surgical intervention in this patient population.

surgical morbidity and short term oncologic status after prophylactic intent thyroidectomy in a cohort of children with men2 from the multicenter gte endocan renaten study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Surgical Morbidity and Short-Term Oncologic Status after Prophylactic-Intent Thyroidectomy in a Cohort of Children with MEN2 from the Multicenter GTE ENDOCAN-RENATEN Study.”

Research

A study highlights the effectiveness of a multidisciplinary approach combining gemcitabine, cisplatin, and durvalumab, leading to a radiological complete response in liver metastasis of metastatic distal cholangiocarcinoma. This research underscores the potential for conversion surgery in improving patient outcomes.

multidisciplinary treatment with conversion surgery after radiological complete response of liver metastasis to gemcitabine cisplatin and durvalumab in metastatic distal cholangiocarcinoma

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Multidisciplinary treatment with conversion surgery after radiological complete response of liver metastasis to gemcitabine, cisplatin, and durvalumab in metastatic distal cholangiocarcinoma.”

connective tissue disorder mixed connective tissue disease+1 moreResearch

A narrative review highlights the role of exhaled nitric oxide measurement in patients with connective tissue diseases linked to interstitial lung disease. This research could provide insights into non-invasive monitoring and management strategies for affected patients.

exhaled nitric oxide measurement in patients with connective tissue diseases associated with interstitial lung disease a narrative review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Exhaled nitric oxide measurement in patients with connective tissue diseases associated with interstitial lung disease: a narrative review.”

Research

A case report highlights the efficacy of capmatinib in treating high-level MET-amplified metastatic gastric cancer, identified through comprehensive genomic profiling. This study contributes to the understanding of targeted therapies in rare cancer subtypes.

capmatinib for high level met amplified metastatic gastric cancer identified by comprehensive genomic profiling a case report and literature review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Capmatinib for High-Level MET-Amplified Metastatic Gastric Cancer Identified by Comprehensive Genomic Profiling: A Case Report and Literature Review.”

systemic lupus erythematosus systemic lupus erythematosus related to C1QAResearch

A systematic review and meta-analysis highlights the prevalence of major pulmonary complications in patients with systemic lupus erythematosus (SLE). This research provides valuable insights into the respiratory risks associated with SLE, which may inform clinical management strategies.

prevalence of major pulmonary complications among patients with systemic lupus erythematosus sle a systematic review and meta analysis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Prevalence of Major Pulmonary Complications Among Patients with Systemic Lupus Erythematosus (SLE): A Systematic Review and Meta-Analysis.”

colorectal cancerResearch

A new study explores the genomic landscape of ALK fusion-positive colorectal cancer, highlighting potential therapeutic implications. This research may inform future treatment strategies for patients with this specific genetic alteration.

genomic landscape and therapeutic implications of alk fusion positive colorectal cancer

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Genomic Landscape and Therapeutic Implications of ALK Fusion-Positive Colorectal Cancer.”

Research

A recent study published in PubMed investigates the metabolic, endocrine, and appetite responses to carbohydrate versus niacin ingestion during exercise in healthy individuals. The findings contribute to understanding how different nutrients affect exercise performance and metabolic health.

metabolic endocrine and appetite responses to carbohydrate versus niacin ingestion during exercise in healthy females and males

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Metabolic, endocrine and appetite responses to carbohydrate versus niacin ingestion during exercise in healthy females and males.”

Research

A recent study investigates national support mechanisms for European Reference Network Centres, aiming to enhance collaboration and resource sharing among rare disease specialists. The findings could inform future policy and funding strategies in the rare disease landscape.

exploring national support mechanisms for european reference network centres

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Exploring National Support Mechanisms for European Reference Network Centres.”

Research

Recent research indicates that vitamin B12 can alleviate spliceosomopathy through phospholipid remodeling. This discovery may open new avenues for therapeutic strategies targeting this rare condition.

vitamin b 12 alleviates spliceosomopathy via phospholipid remodeling

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Vitamin B(12) alleviates spliceosomopathy via phospholipid remodeling.”

Research

A multicenter study investigates expiratory phase lung mechanics in late-onset Pompe disease using oscillometry. The research identifies specific breathing abnormalities, contributing to the understanding of respiratory complications in this rare condition.

expiratory phase lung mechanics in late onset pompe disease a multicenter study using oscillometry to identify specific breathing abnormalities

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities.”

mixed phenotype acute leukemia mixed phenotype acute leukemia with t(v;11q23.3)+1 moreResearch

A rare case report details mixed phenotype acute leukemia presenting symptoms similar to adult-onset Still's disease in a pregnant female. This case highlights the diagnostic challenges and the need for awareness of overlapping symptoms in rare diseases.

mixed phenotype acute leukemia mimicking adult onset still s disease in a pregnant female a rare case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Mixed phenotype acute leukemia mimicking adult-onset Still's disease in a pregnant female: A rare case report.”

tuberculosis hepatic tuberculosis+1 moreResearch

A case report highlights the occurrence of rare primary bone tuberculosis in a patient undergoing ruxolitinib therapy. This literature review adds to the understanding of potential complications associated with JAK inhibitors.

rare primary bone tuberculosis associated with ruxolitinib therapy a case report and literature review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Rare primary bone tuberculosis associated with ruxolitinib therapy: A case report and literature review.”

Previous178 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A comprehensive review highlights the clinical spectrum, diagnostic strategies, and management approaches for congenital adrenal hyperplasia in children. This study provides valuable insights for healthcare professionals involved in the care of affected patients.

A recent study explores the relationship between relapsing-remitting perimyocarditis and emerging acute myeloid leukemia, highlighting potential connections that warrant further investigation. This research could inform future therapeutic strategies for these conditions.

A qualitative analysis explores the role of surrogate endpoints in cost-effectiveness analysis for health technology assessment. This research could influence future evaluations of rare disease treatments.

A recent study highlights the prevalence of autonomic and small fiber neuropathy in patients with acute hepatic porphyrias. This research adds to the understanding of neurological complications associated with this rare disease.

Researchers have developed a long-acting allosteric antagonist targeting the growth hormone receptor for the treatment of acromegaly. This advancement could enhance treatment options for patients suffering from this rare endocrine disorder.

A recent study highlights a presumed fatal bronchospasm linked to adenosine used in assessing fractional flow reserve. This finding raises concerns about the safety of adenosine in clinical settings.

A case study highlights an esophageal perforation linked to pharyngotonsillitis and Streptococcus anginosus group infection. This research contributes to understanding the complications associated with these infections.

A multicenter study by the Fetal Heart Society investigates fetal cardiomyopathy, providing insights into its contemporary management and outcomes. This research highlights the evolving understanding of this condition and its implications for prenatal care.

A narrative review highlights the role of exhaled nitric oxide measurement in patients with connective tissue diseases linked to interstitial lung disease. This research could provide insights into non-invasive monitoring and management strategies for affected patients.

A case report highlights the efficacy of capmatinib in treating high-level MET-amplified metastatic gastric cancer, identified through comprehensive genomic profiling. This study contributes to the understanding of targeted therapies in rare cancer subtypes.

A systematic review and meta-analysis highlights the prevalence of major pulmonary complications in patients with systemic lupus erythematosus (SLE). This research provides valuable insights into the respiratory risks associated with SLE, which may inform clinical management strategies.

A new study explores the genomic landscape of ALK fusion-positive colorectal cancer, highlighting potential therapeutic implications. This research may inform future treatment strategies for patients with this specific genetic alteration.

A recent study published in PubMed investigates the metabolic, endocrine, and appetite responses to carbohydrate versus niacin ingestion during exercise in healthy individuals. The findings contribute to understanding how different nutrients affect exercise performance and metabolic health.

A recent study investigates national support mechanisms for European Reference Network Centres, aiming to enhance collaboration and resource sharing among rare disease specialists. The findings could inform future policy and funding strategies in the rare disease landscape.

Recent research indicates that vitamin B12 can alleviate spliceosomopathy through phospholipid remodeling. This discovery may open new avenues for therapeutic strategies targeting this rare condition.

A multicenter study investigates expiratory phase lung mechanics in late-onset Pompe disease using oscillometry. The research identifies specific breathing abnormalities, contributing to the understanding of respiratory complications in this rare condition.

A rare case report details mixed phenotype acute leukemia presenting symptoms similar to adult-onset Still's disease in a pregnant female. This case highlights the diagnostic challenges and the need for awareness of overlapping symptoms in rare diseases.

A case report highlights the occurrence of rare primary bone tuberculosis in a patient undergoing ruxolitinib therapy. This literature review adds to the understanding of potential complications associated with JAK inhibitors.

Not rare diseases news,
news about your rare disease.