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What's new in your rare disease | Kisho

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news about your rare disease.

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Research

New research uncovers haplotype-resolved genomes of oat crown rust isolates, highlighting the global dispersion of long-lived clonal haplotypes with limited recombination. This study provides insights into the genetic diversity and evolution of this pathogen.

haplotype resolved genomes of diverse oat crown rust isolates reveal global dispersion of long lived clonal haplotypes with limited recombination

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Haplotype-Resolved Genomes of Diverse Oat Crown Rust Isolates Reveal Global Dispersion of Long-Lived Clonal Haplotypes with Limited Recombination.”

non-arteritic anterior ischemic optic neuropathy type 2 diabetes mellitusResearch

A recent study investigates the occurrence of new-onset nonarteritic anterior ischemic optic neuropathy among US veterans initiating treatment with semaglutide for type 2 diabetes. The findings contribute to understanding potential ocular complications associated with diabetes treatments.

new onset nonarteritic anterior ischemic optic neuropathy and initiators of semaglutide in us veterans with type 2 diabetes

PubMed Rare Disease·9 months ago·Read at source →

Original title: “New-Onset Nonarteritic Anterior Ischemic Optic Neuropathy and Initiators of Semaglutide in US Veterans With Type 2 Diabetes.”

interstitial lung disease interstitial lung disease 2Research

A retrospective study investigates the link between autoantibodies and interstitial lung disease in patients with autoimmune diseases. The findings contribute to understanding the role of autoantibodies in disease progression and management.

association between autoantibodies and interstitial lung disease in autoimmune disease patients a retrospective study

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Association between autoantibodies and interstitial lung disease in autoimmune disease patients: a retrospective study.”

Research

Recent research highlights advances in understanding NOD2-related multisystem inflammatory disorders, shedding light on potential therapeutic targets. This study contributes to the growing body of knowledge surrounding these complex conditions.

nod2 related multisystem inflammatory disorders and recent advances

PubMed Rare Disease·9 months ago·Read at source →

Original title: “NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.”

Prader-Willi syndromeResearch

A recent study published in PubMed highlights the significant burden of endocrine and metabolic disorders in individuals with Prader-Willi syndrome, utilizing data from the Italian registry. This research underscores the need for targeted interventions in this patient population.

understanding the burden of endocrine and metabolic disorders in prader willi syndrome data from the italian registry

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.”

Research

A new primer discusses the application of foundation models in pediatric radiology, highlighting their potential to enhance diagnostic accuracy and efficiency. This resource aims to equip pediatric radiologists with the knowledge to leverage these advanced technologies in clinical practice.

foundation models in radiology a primer for pediatric radiologists

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Foundation models in radiology: a primer for pediatric radiologists.”

constrictive pericarditisResearch

A recent study highlights the challenges in diagnosing epicardial fat necrosis, which can lead to constrictive pericarditis. The findings emphasize the importance of recognizing this condition to prevent misdiagnosis and ensure appropriate treatment.

epicardial fat necrosis leading to constrictive pericarditis missed diagnosis and subsequent resolution

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Epicardial Fat Necrosis Leading to Constrictive Pericarditis: Missed Diagnosis and Subsequent Resolution.”

Research

A new prediction model for early allograft dysfunction following liver transplantation has been developed and validated through a systematic review and meta-analysis. This model aims to improve patient outcomes by identifying at-risk individuals early in the post-transplant period.

development and validation of prediction model for early allograft dysfunction following liver transplantation based on systematic review and meta analysis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Development and validation of prediction model for early allograft dysfunction following liver transplantation based on systematic review and meta-analysis.”

inflammatory bowel disease inflammatory bowel disease 10+1 moreResearch

A recent study published in PubMed analyzes the safety and outcomes of advanced inflammatory bowel disease (IBD) therapies in patients with HIV. The research utilizes a propensity-matched cohort to provide insights into treatment efficacy and safety profiles.

safety and outcomes of advanced ibd therapies in patients with hiv a propensity matched cohort analysis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Safety and outcomes of advanced IBD therapies in patients with HIV: a propensity-matched cohort analysis.”

autosomal dominant nonsyndromic hearing loss 1Research

A study characterizes a family with autosomal dominant thrombocytopenia linked to the CYCS p.Arg92Gly variant, providing insights into clinical features and antiplatelet tolerance. This research adds to the understanding of genetic factors influencing platelet levels.

autosomal dominant thrombocytopenia associated with the cycs p arg92gly variant clinical characterization of an additional family and observation of antiplatelet tolerance

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerance.”

Wilson diseaseResearch

A preliminary study investigates gait deviations in adolescents with Wilson disease, exploring potential links to biochemical markers. These findings may provide insights into the neurological impact of the disease and inform future research.

gait deviations in adolescent patients with wilson disease and their possible connections with biochemical markers preliminary results

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Gait deviations in adolescent patients with Wilson disease and their possible connections with biochemical markers: preliminary results.”

cholangiocarcinoma hilar cholangiocarcinomaResearch

A Phase I study evaluates the combination of gemcitabine and cisplatin with ivosidenib or pemigatinib for advanced cholangiocarcinoma. The open-label trial aims to assess safety and efficacy in this challenging cancer type.

phase i results of a multicenter open label dose de escalation and expansion study of gemcitabine and cisplatin with ivosidenib or pemigatinib for advanced cholangiocarcinoma

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Phase I results of a multicenter, open-label, dose de-escalation and expansion study of gemcitabine and cisplatin with ivosidenib or pemigatinib for advanced cholangiocarcinoma.”

Research

A study published in PubMed explores the use of carotid endarterectomy with active extracorporeal perfusion for treating bilateral ocular ischemic syndrome. The approach was guided by four-dimensional flow magnetic resonance imaging to assess critical cerebral supply.

carotid endarterectomy with active extracorporeal perfusion for bilateral ocular ischemic syndrome in a patient with a preoperatively defined critical single vessel cerebral supply on four dimensional flow magnetic resonance imaging

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Carotid endarterectomy with active extracorporeal perfusion for bilateral ocular ischemic syndrome in a patient with a preoperatively defined critical single-vessel cerebral supply on four-dimensional flow magnetic resonance imaging.”

Research

A recent study evaluates the standardization of quantitative muscle MRI across different vendors in healthy adults. This research aims to enhance the reliability of muscle imaging techniques, which could have implications for diagnosing and monitoring muscle-related diseases.

standardizing quantitative muscle mri an inter vendor evaluation in healthy adults

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Standardizing quantitative muscle MRI: an inter-vendor evaluation in healthy adults.”

nephrotic syndrome nephrotic syndrome 14+1 moreResearch

A new study explores the links between toxic metal exposure and childhood nephrotic syndrome, highlighting potential environmental risk factors for this condition. The findings could inform future research and public health strategies.

associations between toxic metal exposure and childhood nephrotic syndrome

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Associations Between Toxic Metal Exposure and Childhood Nephrotic Syndrome.”

Research

Recent research highlights advanced molecular techniques that can effectively distinguish monozygotic twins, which has significant implications for forensic applications. These findings could enhance the accuracy of forensic investigations involving identical twins.

advanced molecular techniques in distinguishing monozygotic twins for forensic applications

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Advanced molecular techniques in distinguishing monozygotic twins for forensic applications.”

Research

A recent publication reviews the current landscape of detection, management, and treatment for alpha-1 antitrypsin deficiency. The findings highlight advancements in diagnostic techniques and therapeutic options available for patients.

alpha 1 antitrypsin deficiency current landscape of detection management and treatment

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.”

spinocerebellar ataxia type 14 autosomal recessive spinocerebellar ataxia 14Research

A recent case report on familial SCA14 provides insights into the genetic underpinnings of this rare condition. The study reviews clinical features and genetic findings, contributing to the understanding of spinocerebellar ataxia type 14.

familial sca14 a case report with review

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Familial SCA14: A case report with review.”

Research

A study qualitatively tested the EQ-HWB-9 alongside the EQ-5D-5L in a population with rare genetic skin diseases. This research aims to enhance patient-reported outcomes in this specific demographic.

qualitative testing of the eq hwb 9 with a blank eq hwb vas and eq 5d 5l with skin bolt ons in a rare genetic skin disease population

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Qualitative testing of the EQ-HWB-9 with a 'blank' EQ-HWB VAS and EQ-5D-5L with skin bolt-ons in a rare genetic skin disease population.”

Research

A new study explores infection-triggered encephalopathy syndrome in children, providing insights through neuroimaging techniques. This research enhances understanding of the condition's neurological impacts.

infection triggered encephalopathy syndrome in children a neuroimaging perspective

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.”

Previous463 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

New research uncovers haplotype-resolved genomes of oat crown rust isolates, highlighting the global dispersion of long-lived clonal haplotypes with limited recombination. This study provides insights into the genetic diversity and evolution of this pathogen.

A recent study investigates the occurrence of new-onset nonarteritic anterior ischemic optic neuropathy among US veterans initiating treatment with semaglutide for type 2 diabetes. The findings contribute to understanding potential ocular complications associated with diabetes treatments.

A retrospective study investigates the link between autoantibodies and interstitial lung disease in patients with autoimmune diseases. The findings contribute to understanding the role of autoantibodies in disease progression and management.

Recent research highlights advances in understanding NOD2-related multisystem inflammatory disorders, shedding light on potential therapeutic targets. This study contributes to the growing body of knowledge surrounding these complex conditions.

A recent study published in PubMed highlights the significant burden of endocrine and metabolic disorders in individuals with Prader-Willi syndrome, utilizing data from the Italian registry. This research underscores the need for targeted interventions in this patient population.

A new primer discusses the application of foundation models in pediatric radiology, highlighting their potential to enhance diagnostic accuracy and efficiency. This resource aims to equip pediatric radiologists with the knowledge to leverage these advanced technologies in clinical practice.

A recent study highlights the challenges in diagnosing epicardial fat necrosis, which can lead to constrictive pericarditis. The findings emphasize the importance of recognizing this condition to prevent misdiagnosis and ensure appropriate treatment.

A new prediction model for early allograft dysfunction following liver transplantation has been developed and validated through a systematic review and meta-analysis. This model aims to improve patient outcomes by identifying at-risk individuals early in the post-transplant period.

A recent study published in PubMed analyzes the safety and outcomes of advanced inflammatory bowel disease (IBD) therapies in patients with HIV. The research utilizes a propensity-matched cohort to provide insights into treatment efficacy and safety profiles.

A study characterizes a family with autosomal dominant thrombocytopenia linked to the CYCS p.Arg92Gly variant, providing insights into clinical features and antiplatelet tolerance. This research adds to the understanding of genetic factors influencing platelet levels.

A preliminary study investigates gait deviations in adolescents with Wilson disease, exploring potential links to biochemical markers. These findings may provide insights into the neurological impact of the disease and inform future research.

A Phase I study evaluates the combination of gemcitabine and cisplatin with ivosidenib or pemigatinib for advanced cholangiocarcinoma. The open-label trial aims to assess safety and efficacy in this challenging cancer type.

A study published in PubMed explores the use of carotid endarterectomy with active extracorporeal perfusion for treating bilateral ocular ischemic syndrome. The approach was guided by four-dimensional flow magnetic resonance imaging to assess critical cerebral supply.

A recent study evaluates the standardization of quantitative muscle MRI across different vendors in healthy adults. This research aims to enhance the reliability of muscle imaging techniques, which could have implications for diagnosing and monitoring muscle-related diseases.

A new study explores the links between toxic metal exposure and childhood nephrotic syndrome, highlighting potential environmental risk factors for this condition. The findings could inform future research and public health strategies.

Recent research highlights advanced molecular techniques that can effectively distinguish monozygotic twins, which has significant implications for forensic applications. These findings could enhance the accuracy of forensic investigations involving identical twins.

A recent publication reviews the current landscape of detection, management, and treatment for alpha-1 antitrypsin deficiency. The findings highlight advancements in diagnostic techniques and therapeutic options available for patients.

A recent case report on familial SCA14 provides insights into the genetic underpinnings of this rare condition. The study reviews clinical features and genetic findings, contributing to the understanding of spinocerebellar ataxia type 14.

A study qualitatively tested the EQ-HWB-9 alongside the EQ-5D-5L in a population with rare genetic skin diseases. This research aims to enhance patient-reported outcomes in this specific demographic.

A new study explores infection-triggered encephalopathy syndrome in children, providing insights through neuroimaging techniques. This research enhances understanding of the condition's neurological impacts.

Not rare diseases news,
news about your rare disease.