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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

Infective endocarditis due to a novel Gemella species revealed by metagenomic sequencing.

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

breast cancerResearch

A new technical note discusses methods for reconstructing dose distributions from manually planned electron boosts in breast radiotherapy. This research could enhance treatment accuracy and patient outcomes in breast cancer therapy.

technical note reconstructing dose distributions from manually planned electron boosts in breast radiotherapy

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

Original title: “Technical note: reconstructing dose distributions from manually planned electron boosts in breast radiotherapy.”

endometriosis endometriosis in cutaneous scar+1 moreResearch

A recent study highlights midgut volvulus with necrosis as a complication of endometriosis, shedding light on the potential severe outcomes of this condition. This discovery emphasizes the need for increased awareness and research into the complications associated with endometriosis.

midgut volvulus with necrosis a complication of endometriosis

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

Original title: “Midgut Volvulus with Necrosis: A Complication of Endometriosis.”

Research

A recent author correction highlights the role of nucleolar URB1 in ensuring the removal of 3' ETS rRNA, which is crucial for preventing exosome surveillance. This discovery may have implications for understanding RNA processing in rare diseases.

author correction nucleolar urb1 ensures 3 ets rrna removal to prevent exosome surveillance

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

Original title: “Author Correction: Nucleolar URB1 ensures 3' ETS rRNA removal to prevent exosome surveillance.”

progressive myoclonic epilepsy type 6 progressive myoclonic epilepsy type 7+1 moreResearch

A recent study published in PubMed explores progressive myoclonic ataxia linked to late-onset sialidosis, providing new insights into the disease's mechanisms. This research may inform future therapeutic strategies for affected patients.

progressive myoclonic ataxia due to late onset sialidosis

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

Original title: “Progressive myoclonic ataxia due to late-onset sialidosis.”

pulmonary hypertension pulmonary hypertension, primary, 6+1 moreResearch

A recent study evaluates the diagnostic performance of the main pulmonary artery-to-ascending aorta diameter ratio for identifying pulmonary hypertension in children with left-to-right shunt congenital heart disease. This research provides insights into non-invasive diagnostic methods for a critical condition affecting pediatric patients.

diagnostic performance of the main pulmonary artery to ascending aorta diameter ratio for pulmonary hypertension defined by mean pulmonary arterial pressure in children with left to right shunt congenital heart disease

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

Original title: “Diagnostic performance of the main pulmonary artery-to-ascending aorta diameter ratio for pulmonary hypertension defined by mean pulmonary arterial pressure in children with left-to-right shunt congenital heart disease.”

hypertrophic cardiomyopathy hypertrophic cardiomyopathy 9+1 moreResearch

A recent study evaluates the clinical screening yield in pediatric relatives of hypertrophic cardiomyopathy who have tested negative for genetic mutations. The findings may inform future screening protocols and management strategies for at-risk children.

yield of clinical screening in pediatric relatives of hypertrophic cardiomyopathy with negative genetic testing

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

Original title: “The Yield of Clinical Screening in Pediatric Relatives of Hypertrophic Cardiomyopathy With Negative Genetic Testing.”

Research

A systematic review evaluates the effects of hyperbaric oxygen therapy on various human musculoskeletal pathologies. The findings contribute to understanding potential therapeutic applications in treating these conditions.

effects of hyperbaric oxygen therapy on human musculoskeletal pathologies in clinical studies a systematic review

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

Original title: “Effects of hyperbaric oxygen therapy on human musculoskeletal pathologies in clinical studies: a systematic review.”

Research

A new study expands the understanding of clinical and molecular features in surviving males with PORCN variants. This research highlights the diverse mechanisms associated with these genetic alterations.

surviving males with porcn variants expanding the clinical molecular and mechanistic spectrum

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

Original title: “Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.”

pulmonary fibrosisResearch

New research explores the pathophysiology of pulmonary fibrosis linked to monogenic defects in telomere homeostasis. This study enhances understanding of the disease mechanisms, potentially guiding future therapeutic strategies.

pathophysiology of pulmonary fibrosis associated with monogenic defects of telomere homeostasis

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

Original title: “[Pathophysiology of pulmonary fibrosis associated with monogenic defects of telomere homeostasis].”

inflammatory bowel disease inflammatory bowel disease 10+1 moreResearch

A global gut microbiome atlas reveals specific microbial signatures associated with different epidemiologic stages of inflammatory bowel disease. This research could enhance understanding of disease progression and inform future therapeutic strategies.

global gut microbiome atlas identifies epidemiologic stage specific signatures in inflammatory bowel disease

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

Original title: “Global gut microbiome atlas identifies epidemiologic-stage-specific signatures in inflammatory bowel disease.”

glioblastoma adult glioblastoma+1 moreResearch

A case study highlights the successful multimodal treatment of a rare dual fungal brain abscess, which mimicked glioblastoma in an immunocompetent patient. This research contributes to the understanding of differential diagnoses in brain lesions.

glioblastoma mimic successful multimodal treatment of a rare dual fungal brain abscess in an immunocompetent patient illustrative case

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

Original title: “A glioblastoma mimic: successful multimodal treatment of a rare dual fungal brain abscess in an immunocompetent patient. Illustrative case.”

traumatic brain injuryResearch

Research highlights the importance of morphological maturation and circuit integration of adult-born neurons for functional recovery following traumatic brain injury. This study provides insights into potential therapeutic targets for enhancing recovery in affected patients.

morphological maturation and circuit integration of adult born neurons are key to functional recovery after traumatic brain injury

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

Original title: “Morphological maturation and circuit integration of adult-born neurons are key to functional recovery after traumatic brain injury.”

epilepsyResearch

A new study explores the comorbidity spectrum in children and youth with epilepsy, utilizing a validated population-based cohort. This research provides insights into the associated conditions affecting this demographic, which could inform future treatment strategies.

comorbidity spectrum in children and youth with epilepsy based on a validated and classified population based childhood epilepsy cohort

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

Original title: “Comorbidity spectrum in children and youth with epilepsy based on a validated and classified population-based childhood epilepsy cohort.”

deafness-vitiligo-achalasia syndromeResearch

Research indicates that the type, location, and zygosity of KCNJ16 variants can influence the clinical severity of hypokalemia tubulopathy and deafness. This study enhances understanding of genetic factors affecting HkTD outcomes.

type location and zygosity of kcnj16 variants may determine the clinical severity of hypokalemia tubulopathy and deafness hktd

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

Original title: “Type, Location and Zygosity of KCNJ16 Variants May Determine the Clinical Severity of Hypokalemia Tubulopathy and Deafness (HkTD).”

Research

A systematic analysis reveals the clinical significance of CHD8 missense variants, providing insights into their consequences. This research enhances understanding of the genetic underpinnings associated with these variants.

episignature informed systematic analysis to ascertain the clinical significance and consequences of chd8 missense variants

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

Original title: “An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.”

myasthenia gravis transient neonatal myasthenia gravisResearch

A prespecified analysis from the Phase 3 trial of inebilizumab for myasthenia gravis highlights its effectiveness in managing exacerbations and rescue therapy. This study contributes valuable insights into treatment strategies for this rare neuromuscular disorder.

management of exacerbations and rescue therapy a prespecified analysis of the phase 3 myasthenia gravis inebilizumab randomized clinical trial

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

Original title: “Management of Exacerbations and Rescue Therapy: A Prespecified Analysis of the Phase 3 Myasthenia Gravis Inebilizumab Randomized Clinical Trial.”

Research

New guidelines emphasize the importance of patient engagement in value assessment and health economics research. These recommendations aim to enhance the relevance and applicability of research proposals in the context of rare diseases.

strengthening value assessment and health economics and outcomes research proposals through patient engagement guidelines for researchers

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

Original title: “Strengthening Value Assessment and Health Economics and Outcomes Research Proposals Through Patient Engagement: Guidelines for Researchers.”

anomalous left coronary artery from the pulmonary arteryResearch

A 15-year retrospective cohort study on Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA) provides new insights into its clinical outcomes. The study highlights the importance of early diagnosis and intervention in improving patient prognosis.

anomalous left coronary artery from the pulmonary artery alcapa a 15 year retrospective cohort study at a tertiary referral center

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

Original title: “Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA): A 15-Year Retrospective Cohort Study at a Tertiary Referral Center.”

cardiomyopathy familial hypertrophic cardiomyopathyResearch

The Dutch cardiomyopathy registry (DCR) aims to enhance understanding and management of cardiomyopathy through comprehensive data collection. This initiative will facilitate research and improve patient outcomes by providing a centralized resource for clinical data.

dutch cardiomyopathy registry dcr rationale and registry design

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

Original title: “The Dutch cardiomyopathy registry (DCR); rationale and registry design.”

Previous174 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Infective endocarditis due to a novel Gemella species revealed by metagenomic sequencing.

A new technical note discusses methods for reconstructing dose distributions from manually planned electron boosts in breast radiotherapy. This research could enhance treatment accuracy and patient outcomes in breast cancer therapy.

A recent study highlights midgut volvulus with necrosis as a complication of endometriosis, shedding light on the potential severe outcomes of this condition. This discovery emphasizes the need for increased awareness and research into the complications associated with endometriosis.

A recent author correction highlights the role of nucleolar URB1 in ensuring the removal of 3' ETS rRNA, which is crucial for preventing exosome surveillance. This discovery may have implications for understanding RNA processing in rare diseases.

A recent study published in PubMed explores progressive myoclonic ataxia linked to late-onset sialidosis, providing new insights into the disease's mechanisms. This research may inform future therapeutic strategies for affected patients.

A recent study evaluates the clinical screening yield in pediatric relatives of hypertrophic cardiomyopathy who have tested negative for genetic mutations. The findings may inform future screening protocols and management strategies for at-risk children.

A systematic review evaluates the effects of hyperbaric oxygen therapy on various human musculoskeletal pathologies. The findings contribute to understanding potential therapeutic applications in treating these conditions.

A new study expands the understanding of clinical and molecular features in surviving males with PORCN variants. This research highlights the diverse mechanisms associated with these genetic alterations.

New research explores the pathophysiology of pulmonary fibrosis linked to monogenic defects in telomere homeostasis. This study enhances understanding of the disease mechanisms, potentially guiding future therapeutic strategies.

A global gut microbiome atlas reveals specific microbial signatures associated with different epidemiologic stages of inflammatory bowel disease. This research could enhance understanding of disease progression and inform future therapeutic strategies.

A case study highlights the successful multimodal treatment of a rare dual fungal brain abscess, which mimicked glioblastoma in an immunocompetent patient. This research contributes to the understanding of differential diagnoses in brain lesions.

Research highlights the importance of morphological maturation and circuit integration of adult-born neurons for functional recovery following traumatic brain injury. This study provides insights into potential therapeutic targets for enhancing recovery in affected patients.

A new study explores the comorbidity spectrum in children and youth with epilepsy, utilizing a validated population-based cohort. This research provides insights into the associated conditions affecting this demographic, which could inform future treatment strategies.

Research indicates that the type, location, and zygosity of KCNJ16 variants can influence the clinical severity of hypokalemia tubulopathy and deafness. This study enhances understanding of genetic factors affecting HkTD outcomes.

A systematic analysis reveals the clinical significance of CHD8 missense variants, providing insights into their consequences. This research enhances understanding of the genetic underpinnings associated with these variants.

A prespecified analysis from the Phase 3 trial of inebilizumab for myasthenia gravis highlights its effectiveness in managing exacerbations and rescue therapy. This study contributes valuable insights into treatment strategies for this rare neuromuscular disorder.

New guidelines emphasize the importance of patient engagement in value assessment and health economics research. These recommendations aim to enhance the relevance and applicability of research proposals in the context of rare diseases.

A 15-year retrospective cohort study on Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA) provides new insights into its clinical outcomes. The study highlights the importance of early diagnosis and intervention in improving patient prognosis.

The Dutch cardiomyopathy registry (DCR) aims to enhance understanding and management of cardiomyopathy through comprehensive data collection. This initiative will facilitate research and improve patient outcomes by providing a centralized resource for clinical data.

Not rare diseases news,
news about your rare disease.