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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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sickle cell disease sickle cell-hemoglobin d disease syndrome+1 moreResearch

A recent case study highlights the prevalence of susceptibility-weighted imaging findings in cerebral fat embolism syndrome associated with sickle cell disease. This research contributes to the understanding of imaging characteristics in this rare condition.

cerebral fat embolism syndrome in sickle cell disease a case highlighting the predominance of susceptibility weighted imaging findings and literature review

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Cerebral fat embolism syndrome in sickle cell disease: a case highlighting the predominance of susceptibility-weighted imaging findings and literature review.”

Research

A recent study highlights the diagnostic challenges of extranodal Rosai-Dorfman disease with bilateral renal involvement. This research underscores the complexity of identifying this rare condition, which may lead to misdiagnosis.

extranodal rosai dorfman disease with bilateral renal involvement a diagnostic challenge

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Extranodal Rosai-Dorfman disease with bilateral renal involvement: A diagnostic challenge.”

Research

Research highlights the essential role of HSD17B7 in the function of sensory hair cells through its regulation of cholesterol synthesis. This discovery may have implications for understanding hearing loss mechanisms.

hsd17b7 is required for the function of sensory hair cells by regulating cholesterol synthesis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.”

Research

A new publication discusses advancements in mRNA therapeutics, highlighting potential applications in rare diseases. The research outlines innovative strategies that could enhance the efficacy and delivery of mRNA-based treatments.

towards mrna therapeutics 2 0

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Towards mRNA therapeutics 2.0.”

pyoderma gangrenosum pyoderma gangrenosum-acne-suppurative hidradenitis syndrome+1 moreResearch

A case report highlights the misdiagnosis of pyoderma gangrenosum as squamous cell carcinoma due to pseudoepitheliomatous hyperplasia. This underscores the need for accurate histopathological evaluation in rare skin conditions.

pyoderma gangrenosum with pseudoepitheliomatous hyperplasia histopathologically misdiagnosed as squamous cell carcinoma a case report and brief literature review

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Pyoderma Gangrenosum with Pseudoepitheliomatous Hyperplasia Histopathologically Misdiagnosed as Squamous Cell Carcinoma: A Case Report and Brief Literature Review.”

infective endocarditis candidemiaResearch

A case study highlights the successful conservative treatment of MRSA-associated infective endocarditis alongside candidemia in a hemodialysis patient. This research contributes to understanding treatment options for complex infections in vulnerable populations.

successful conservative treatment of mrsa associated infective endocarditis with concurrent candidemia in a hemodialysis patient

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Successful conservative treatment of MRSA-associated infective endocarditis with concurrent candidemia in a hemodialysis patient.”

myasthenia gravis transient neonatal myasthenia gravisResearch

A recent survey highlights the current management and treatment approaches for myasthenia gravis from the perspective of neurologists in France. This study provides insights into clinical practices and may inform future treatment guidelines.

current management and treatment of patients with myasthenia gravis in france a survey of the neurologist s perspective

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Current management and treatment of patients with myasthenia gravis in France: A survey of the neurologist's perspective.”

Research

A new study evaluates the contribution of effect in oncology combination therapies, providing insights to enhance future registrational trial designs. The findings aim to optimize treatment strategies and improve patient outcomes in oncology.

assessing contribution of effect in oncology combination therapies lessons learned to inform and optimize future registrational trial designs

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Assessing Contribution of Effect in Oncology Combination Therapies: Lessons Learned to Inform and Optimize Future Registrational Trial Designs.”

spinocerebellar ataxia 44 spinocerebellar ataxia 49+1 moreResearch

A recent study published in PubMed highlights the frequency of ZFHX3-mediated spinocerebellar ataxia 4 in a US cohort of undiagnosed ataxia patients. This research contributes to the understanding of genetic factors in ataxia, potentially aiding in diagnosis and treatment strategies.

frequency of zfhx3 mediated spinocerebellar ataxia 4 in a us undiagnosed ataxia cohort

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.”

acute pancreatitis recurrent acute pancreatitisResearch

Recent research identifies TNF-α as a key driver of pancreatic microcirculatory dysfunction through CD8(+) T cell-mediated endothelial injury in severe acute pancreatitis. This discovery could inform future therapeutic strategies targeting immune responses in this condition.

tnf drives pancreatic microcirculatory dysfunction via cd8 t cell mediated endothelial injury in severe acute pancreatitis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “TNF-α drives pancreatic microcirculatory dysfunction via CD8(+) T cell-mediated endothelial injury in severe acute pancreatitis.”

chronic recurrent multifocal osteomyelitisResearch

A novel gain-of-function variant in the SLC2A10 gene has been identified, linking it to glycolytic macrophage polarization in chronic nonbacterial osteomyelitis. This discovery may provide new insights into the underlying mechanisms of this rare disease.

novel slc2a10 gain of function variant links glycolytic macrophage polarization to chronic nonbacterial osteomyelitis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “A novel SLC2A10 gain-of-function variant links glycolytic macrophage polarization to chronic nonbacterial osteomyelitis.”

Research

A new study investigates the prevalence of malignancy in indeterminate T1-hypointense spine lesions without aggressive imaging features. The findings could inform clinical decision-making regarding the management of these lesions.

indeterminate t1 hypointense spine lesions prevalence of malignancy in the absence of aggressive imaging features

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Indeterminate T1-Hypointense Spine Lesions: Prevalence of Malignancy in the Absence of Aggressive Imaging Features.”

aortic dissection lentiginosis aortic aneurysm+1 moreResearch

A recent study presents a single-stage surgical approach for repairing complex congenital aortic arch pathology in adults, addressing dissection and aneurysm. This research could influence future surgical techniques and patient outcomes in this rare condition.

single stage repair of complex congenital aortic arch pathology with dissection and aneurysm in an adult

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Single-Stage Repair of Complex Congenital Aortic Arch Pathology With Dissection and Aneurysm in an Adult.”

type 2 diabetes mellitusResearch

A study finds that metformin use is linked to reduced inflammation and pain following total knee arthroplasty in patients with type 2 diabetes. This research highlights the potential benefits of metformin beyond glycemic control in surgical recovery.

metformin use is associated with reduced inflammation and pain after total knee arthroplasty in patients with type 2 diabetes

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Metformin Use Is Associated With Reduced Inflammation and Pain After Total Knee Arthroplasty in Patients With Type 2 Diabetes.”

parotid gland squamous cell carcinoma parotid gland carcinoma ex pleomorphic adenoma+1 moreResearch

A population-based study investigates the prognosis of T4b parotid gland squamous cell carcinoma, providing valuable insights into patient outcomes. This research contributes to the understanding of this rare cancer type.

prognosis of t4b parotid gland squamous cell carcinoma a population based study

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Prognosis of T4b parotid gland squamous cell carcinoma: a population-based study.”

Research

A retrospective bicentric study analyzes the outcomes of operative and antibiotic treatments for cervical spondylodiscitis. The findings contribute to understanding effective management strategies for this rare condition.

operative and antibiotic treatment of cervical spondylodiscitis a retrospective bicentric outcome analysis

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Operative and antibiotic treatment of cervical spondylodiscitis: a retrospective bicentric outcome analysis.”

angioimmunoblastic T-cell lymphoma Burkitt lymphoma+1 moreResearch

A recent study reveals a shared clonal origin between angioimmunoblastic T-cell lymphoma and Burkitt lymphoma, suggesting they evolve from a common precursor. This discovery may enhance understanding of the genetic mechanisms underlying these lymphomas.

shared clonal origin of angioimmunoblastic t cell lymphoma and burkitt lymphoma arising through divergent evolution from a common precursor

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Shared clonal origin of angioimmunoblastic T-cell lymphoma and Burkitt lymphoma arising through divergent evolution from a common precursor.”

inborn error of immunity inborn errors of metabolism+1 moreResearch

The Primary Immune Deficiency Treatment Consortium (PIDTC) has launched the IMPACT study to monitor immune responses and clinical trajectories in patients with inborn errors of immunity. This initiative aims to enhance understanding and treatment of primary immune deficiencies.

impact immune monitoring and phenotype assessment of clinical trajectory for patients with inborn errors of immunity from the primary immune deficiency treatment consortium pidtc

PubMed Rare Disease·5 months ago·Read at source →

Original title: “IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC).”

acne acne keloid+1 moreResearch

A new study outlines practical therapeutic strategies for managing acne-induced hyperpigmentation across various skin types. The findings aim to enhance treatment approaches for this common skin condition.

practical therapeutic strategies for acne induced hyperpigmentation across all skin types

PubMed Rare Disease·5 months ago·Read at source →

Original title: “Practical Therapeutic Strategies for Acne-Induced Hyperpigmentation Across all Skin Types.”

diabetes mellitusResearch

A study reviews ten years of insulin pump therapy outcomes at a Belgian pediatric diabetes center, highlighting evolving practices and longitudinal results. The findings contribute to understanding the long-term effectiveness of insulin pumps in managing diabetes in children.

decade of insulin pump therapy in a belgian paediatric diabetes centre longitudinal outcomes and evolving practices

PubMed Rare Disease·5 months ago·Read at source →

Original title: “A decade of insulin pump therapy in a Belgian paediatric diabetes centre: longitudinal outcomes and evolving practices.”

Previous266 / 486Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent case study highlights the prevalence of susceptibility-weighted imaging findings in cerebral fat embolism syndrome associated with sickle cell disease. This research contributes to the understanding of imaging characteristics in this rare condition.

A recent study highlights the diagnostic challenges of extranodal Rosai-Dorfman disease with bilateral renal involvement. This research underscores the complexity of identifying this rare condition, which may lead to misdiagnosis.

Research highlights the essential role of HSD17B7 in the function of sensory hair cells through its regulation of cholesterol synthesis. This discovery may have implications for understanding hearing loss mechanisms.

A new publication discusses advancements in mRNA therapeutics, highlighting potential applications in rare diseases. The research outlines innovative strategies that could enhance the efficacy and delivery of mRNA-based treatments.

A case report highlights the misdiagnosis of pyoderma gangrenosum as squamous cell carcinoma due to pseudoepitheliomatous hyperplasia. This underscores the need for accurate histopathological evaluation in rare skin conditions.

A case study highlights the successful conservative treatment of MRSA-associated infective endocarditis alongside candidemia in a hemodialysis patient. This research contributes to understanding treatment options for complex infections in vulnerable populations.

A recent survey highlights the current management and treatment approaches for myasthenia gravis from the perspective of neurologists in France. This study provides insights into clinical practices and may inform future treatment guidelines.

A new study evaluates the contribution of effect in oncology combination therapies, providing insights to enhance future registrational trial designs. The findings aim to optimize treatment strategies and improve patient outcomes in oncology.

A recent study published in PubMed highlights the frequency of ZFHX3-mediated spinocerebellar ataxia 4 in a US cohort of undiagnosed ataxia patients. This research contributes to the understanding of genetic factors in ataxia, potentially aiding in diagnosis and treatment strategies.

Recent research identifies TNF-α as a key driver of pancreatic microcirculatory dysfunction through CD8(+) T cell-mediated endothelial injury in severe acute pancreatitis. This discovery could inform future therapeutic strategies targeting immune responses in this condition.

A novel gain-of-function variant in the SLC2A10 gene has been identified, linking it to glycolytic macrophage polarization in chronic nonbacterial osteomyelitis. This discovery may provide new insights into the underlying mechanisms of this rare disease.

A new study investigates the prevalence of malignancy in indeterminate T1-hypointense spine lesions without aggressive imaging features. The findings could inform clinical decision-making regarding the management of these lesions.

A recent study presents a single-stage surgical approach for repairing complex congenital aortic arch pathology in adults, addressing dissection and aneurysm. This research could influence future surgical techniques and patient outcomes in this rare condition.

A study finds that metformin use is linked to reduced inflammation and pain following total knee arthroplasty in patients with type 2 diabetes. This research highlights the potential benefits of metformin beyond glycemic control in surgical recovery.

A population-based study investigates the prognosis of T4b parotid gland squamous cell carcinoma, providing valuable insights into patient outcomes. This research contributes to the understanding of this rare cancer type.

A retrospective bicentric study analyzes the outcomes of operative and antibiotic treatments for cervical spondylodiscitis. The findings contribute to understanding effective management strategies for this rare condition.

A recent study reveals a shared clonal origin between angioimmunoblastic T-cell lymphoma and Burkitt lymphoma, suggesting they evolve from a common precursor. This discovery may enhance understanding of the genetic mechanisms underlying these lymphomas.

The Primary Immune Deficiency Treatment Consortium (PIDTC) has launched the IMPACT study to monitor immune responses and clinical trajectories in patients with inborn errors of immunity. This initiative aims to enhance understanding and treatment of primary immune deficiencies.

A new study outlines practical therapeutic strategies for managing acne-induced hyperpigmentation across various skin types. The findings aim to enhance treatment approaches for this common skin condition.

A study reviews ten years of insulin pump therapy outcomes at a Belgian pediatric diabetes center, highlighting evolving practices and longitudinal results. The findings contribute to understanding the long-term effectiveness of insulin pumps in managing diabetes in children.

Not rare diseases news,
news about your rare disease.