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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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dermatomyositis juvenile dermatomyositis+1 moreResearch

A comparative study on anti-MDA5-positive dermatomyositis reveals distinct clinical characteristics and long-term prognosis across different age groups. This research enhances understanding of the disease's impact on patient outcomes.

clinical characteristics and long term prognosis of anti mda5 positive dermatomyositis a comparative study across age groups

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

Original title: “Clinical characteristics and long-term prognosis of anti-MDA5-positive dermatomyositis: a comparative study across age groups.”

trisomy 21 mosaic trisomy 21+1 moreResearch

A recent study highlights discrepancies in prenatal diagnostics related to a case of fetal partial trisomy 21 and fetoplacental mosaicism. This research could impact future prenatal screening practices and genetic counseling.

discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism

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

Original title: “Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism.”

interstitial lung disease interstitial lung disease 2Research

A recent Italian Delphi consensus outlines a multidisciplinary approach for managing interstitial lung disease in patients with autoimmune rheumatic diseases. This consensus aims to improve treatment strategies and patient outcomes in this complex area of care.

multidisciplinary management of interstitial lung disease in autoimmune rheumatic diseases an italian delphi consensus

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

Original title: “Multidisciplinary management of interstitial lung disease in autoimmune rheumatic diseases: an Italian Delphi consensus.”

infectious encephalitisResearch

A new prospective cohort study investigates infectious encephalitis in adults, providing valuable insights into its epidemiology and clinical outcomes. This research contributes to the understanding of this rare condition and may inform future treatment strategies.

infectious encephalitis among adults a prospective and population based cohort study

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

Original title: “Infectious encephalitis among adults: A prospective and population-based cohort study.”

Wilson diseaseResearch

A recent genetic study highlights the prevalence of undiagnosed Wilson disease in patients with cryptogenic cirrhosis. This research underscores the need for genetic testing in such cases to improve diagnosis and treatment.

undiagnosed wilson disease in cryptogenic cirrhosis a genetic study

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

Original title: “Undiagnosed Wilson Disease in Cryptogenic Cirrhosis: A Genetic Study.”

pulmonary mucoepidermoid carcinomaResearch

A case report highlights the use of photodynamic treatment for pulmonary mucoepidermoid carcinoma, showcasing a novel therapeutic approach. This study contributes to the understanding of treatment options for this rare cancer type.

photodynamic treatment of pulmonary mucoepidermoid carcinoma a case report

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

Original title: “Photodynamic Treatment of Pulmonary Mucoepidermoid Carcinoma: A Case Report.”

Research

A recent study details the successful management of septic splenitis in an Abyssinian cat, highlighting potential treatment strategies. This research contributes to the understanding of rare feline diseases and their management.

successful management of septic splenitis in an abyssinian cat

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

Original title: “Successful Management of Septic Splenitis in an Abyssinian Cat.”

long COVID-19Research

A study reveals that aminopeptides can improve long COVID symptoms in immunocompromised rheumatic patients by promoting immune reconstitution. This research highlights a potential therapeutic avenue for managing long COVID in vulnerable populations.

aminopeptides ameliorate long covid symptoms in immunocompromised rheumatic patients through immune reconstitution

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

Original title: “Aminopeptides ameliorate long COVID symptoms in immunocompromised rheumatic patients through immune reconstitution.”

catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 2+1 moreResearch

A novel RYR2-A4510T variant has been identified, presenting both as autosomal dominant and autosomal recessive forms of catecholaminergic polymorphic ventricular tachycardia. This discovery enhances understanding of the genetic underpinnings of this arrhythmia.

novel ryr2 a4510t variant presenting both as autosomal dominant and autosomal recessive catecholaminergic polymorphic ventricular tachycardia

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

Original title: “Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.”

myasthenia gravis transient neonatal myasthenia gravisResearch

Recent research highlights the potential of chimeric antigen receptor T-cells in treating myasthenia gravis, addressing both advances and safety challenges. This innovative approach could reshape future treatment strategies for this autoimmune disorder.

chimeric antigen receptor t cells in myasthenia gravis advances safety challenges and future directions

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

Original title: “Chimeric Antigen Receptor T-Cells in Myasthenia Gravis: Advances, Safety Challenges, and Future Directions.”

brain small vessel disease 3 brain small vessel disease 4+1 moreResearch

Research indicates that the burden of cerebral small vessel disease is linked to cognitive decline through impaired amyloid clearance mechanisms. This study highlights the potential pathways connecting vascular health and cognitive function in the general population.

cerebral small vessel disease burden relates to cognitive decline via impaired amyloid clearance in the general population

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

Original title: “Cerebral small vessel disease burden relates to cognitive decline via impaired amyloid clearance in the general population.”

scleroderma localized scleroderma+1 moreResearch

A recent comment on the Italian SPRING-SIR registry highlights new insights into the prevalence and distribution of capillaroscopic patterns in scleroderma. This research contributes to understanding the associations of these patterns with disease characteristics.

comment on prevalence distribution and associations of the scleroderma capillaroscopic patterns new insights from the italian spring sir registry reply

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

Original title: “Comment on: Prevalence, distribution and associations of the scleroderma capillaroscopic patterns: new insights from the Italian SPRING-SIR registry: Reply.”

food allergyResearch

A recent survey highlights the significant impact allergists have on reducing anxiety among caregivers of patients with food allergies. The findings suggest that effective communication and support from allergists can alleviate caregiver stress.

allergist impact on anxiety findings from a survey of caregivers of patients with food allergy

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

Original title: “Allergist impact on anxiety: Findings from a survey of caregivers of patients with food allergy.”

bullous pemphigoidResearch

A recent study identifies plasma exosomal let-7i-5p as a novel biomarker for assessing disease activity and prognosis in bullous pemphigoid. This discovery could enhance monitoring and treatment strategies for patients with this condition.

plasma exosomal let 7i 5p as a novel biomarker for disease activity and prognosis in bullous pemphigoid

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

Original title: “Plasma Exosomal let-7i-5p as a Novel Biomarker for Disease Activity and Prognosis in Bullous Pemphigoid.”

hypoparathyroidism hypoparathyroidism-retardation-dysmorphism syndrome+1 moreResearch

A new publication explores hypoparathyroidism as a disease characterized by broad functional deficiencies. This research may enhance understanding and treatment approaches for this rare condition.

understanding hypoparathyroidism as a disease of broad functional deficiency

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

Original title: “Understanding hypoparathyroidism as a disease of broad functional deficiency.”

Research

A 13-year analysis of the National Health Data System in France reveals longitudinal incidence trends of native septic arthritis. This study provides valuable insights into the epidemiology of the disease, which can inform future research and healthcare strategies.

longitudinal incidence of native septic arthritis in france a 13 year analysis of the national health data system database

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

Original title: “Longitudinal incidence of native septic arthritis in France: a 13-year analysis of the National Health Data System Database.”

trigeminal neuralgiaResearch

A recent study highlights a rare neurovascular conflict where duplication of the right superior cerebellar artery is linked to trigeminal neuralgia. This discovery may enhance understanding of the condition's etiology and inform future treatment strategies.

duplication of right superior cerebellar artery leading to trigeminal neuralgia a rare neurovascular conflict

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

Original title: “Duplication of Right Superior Cerebellar Artery Leading to Trigeminal Neuralgia: A Rare Neurovascular Conflict.”

retinal degeneration retinal degeneration-nanophthalmos-glaucoma syndrome+1 moreResearch

Research identifies variants in the ciliopathy gene SCLT1 linked to both non-syndromic and syndromic retinal degeneration, highlighting the gene's role in disease severity. This discovery could inform future genetic testing and therapeutic strategies.

variants in the ciliopathy gene sclt1 are associated with non syndromic and syndromic retinal degeneration of variable severity

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

Original title: “Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.”

Research

Renal replacement lipomatosis of a single moiety in a horseshoe kidney without calculi or infection: A rare CT diagnosis.

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

hypoparathyroidism hypoparathyroidism-retardation-dysmorphism syndrome+1 moreResearch

A recent Delphi consensus analysis provides updated management strategies for patients with hypoparathyroidism. This study aims to standardize care and improve outcomes for individuals affected by this rare endocrine disorder.

management of patients with hypoparathyroidism a delphi consensus analysis

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

Original title: “Management of patients with hypoparathyroidism: a Delphi consensus analysis.”

Previous373 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A comparative study on anti-MDA5-positive dermatomyositis reveals distinct clinical characteristics and long-term prognosis across different age groups. This research enhances understanding of the disease's impact on patient outcomes.

A recent study highlights discrepancies in prenatal diagnostics related to a case of fetal partial trisomy 21 and fetoplacental mosaicism. This research could impact future prenatal screening practices and genetic counseling.

A recent Italian Delphi consensus outlines a multidisciplinary approach for managing interstitial lung disease in patients with autoimmune rheumatic diseases. This consensus aims to improve treatment strategies and patient outcomes in this complex area of care.

A new prospective cohort study investigates infectious encephalitis in adults, providing valuable insights into its epidemiology and clinical outcomes. This research contributes to the understanding of this rare condition and may inform future treatment strategies.

A recent genetic study highlights the prevalence of undiagnosed Wilson disease in patients with cryptogenic cirrhosis. This research underscores the need for genetic testing in such cases to improve diagnosis and treatment.

A case report highlights the use of photodynamic treatment for pulmonary mucoepidermoid carcinoma, showcasing a novel therapeutic approach. This study contributes to the understanding of treatment options for this rare cancer type.

A recent study details the successful management of septic splenitis in an Abyssinian cat, highlighting potential treatment strategies. This research contributes to the understanding of rare feline diseases and their management.

A study reveals that aminopeptides can improve long COVID symptoms in immunocompromised rheumatic patients by promoting immune reconstitution. This research highlights a potential therapeutic avenue for managing long COVID in vulnerable populations.

A novel RYR2-A4510T variant has been identified, presenting both as autosomal dominant and autosomal recessive forms of catecholaminergic polymorphic ventricular tachycardia. This discovery enhances understanding of the genetic underpinnings of this arrhythmia.

Recent research highlights the potential of chimeric antigen receptor T-cells in treating myasthenia gravis, addressing both advances and safety challenges. This innovative approach could reshape future treatment strategies for this autoimmune disorder.

Research indicates that the burden of cerebral small vessel disease is linked to cognitive decline through impaired amyloid clearance mechanisms. This study highlights the potential pathways connecting vascular health and cognitive function in the general population.

A recent comment on the Italian SPRING-SIR registry highlights new insights into the prevalence and distribution of capillaroscopic patterns in scleroderma. This research contributes to understanding the associations of these patterns with disease characteristics.

A recent survey highlights the significant impact allergists have on reducing anxiety among caregivers of patients with food allergies. The findings suggest that effective communication and support from allergists can alleviate caregiver stress.

A recent study identifies plasma exosomal let-7i-5p as a novel biomarker for assessing disease activity and prognosis in bullous pemphigoid. This discovery could enhance monitoring and treatment strategies for patients with this condition.

A new publication explores hypoparathyroidism as a disease characterized by broad functional deficiencies. This research may enhance understanding and treatment approaches for this rare condition.

A 13-year analysis of the National Health Data System in France reveals longitudinal incidence trends of native septic arthritis. This study provides valuable insights into the epidemiology of the disease, which can inform future research and healthcare strategies.

A recent study highlights a rare neurovascular conflict where duplication of the right superior cerebellar artery is linked to trigeminal neuralgia. This discovery may enhance understanding of the condition's etiology and inform future treatment strategies.

Research identifies variants in the ciliopathy gene SCLT1 linked to both non-syndromic and syndromic retinal degeneration, highlighting the gene's role in disease severity. This discovery could inform future genetic testing and therapeutic strategies.

Renal replacement lipomatosis of a single moiety in a horseshoe kidney without calculi or infection: A rare CT diagnosis.

A recent Delphi consensus analysis provides updated management strategies for patients with hypoparathyroidism. This study aims to standardize care and improve outcomes for individuals affected by this rare endocrine disorder.

Not rare diseases news,
news about your rare disease.