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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

A study analyzing whole genome sequencing data from 77,260 participants in the 100,000 Genomes Project reveals the frequency of genetic variants causing familial hypercholesterolaemia. This research contributes to understanding the genetic basis of this condition.

frequency of familial hypercholesterolaemia causing genetic variants in the 100 000 genomes project cohort whole genome sequencing analyses of 77 260 participants

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

Original title: “Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.”

Research

A recent study published in PubMed examines residual and recurrent spinal echinococcosis through MRI and intraoperative correlation in two patients. This research contributes to the understanding of this rare disease and its management.

residual and recurrent spinal echinococcosis mri and intraoperative correlation in two patients

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

Original title: “Residual and recurrent spinal echinococcosis: MRI and intraoperative correlation in two patients.”

perforated corneal ulcerResearch

A case report details a prior Roux-en-Y gastric bypass patient who developed a duodenal fistula following a perforated duodenal ulcer. This case highlights potential complications in patients with previous bariatric surgery.

prior roux en y gastric bypass patient with duodenal fistula after perforated duodenal ulcer case report

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

Original title: “Prior Roux-en-Y Gastric Bypass Patient With Duodenal Fistula After Perforated Duodenal Ulcer Case Report.”

lung adenocarcinoma lung adenocarcinoma in situ+1 moreResearch

A case report highlights the clinical efficacy and potential cardiac toxicity of first-line treatment with dabrafenib and trametinib in patients with advanced BRAF V600_K601delinsE-mutated lung adenocarcinoma. This review adds to the understanding of treatment outcomes and safety profiles in this specific mutation.

clinical efficacy and cardiac toxicity associated with first line dabrafenib plus trametinib in advanced braf v600 k601delinse mutated lung adenocarcinoma a case report and literature review

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

Original title: “Clinical efficacy and cardiac toxicity associated with first-line dabrafenib plus trametinib in advanced BRAF V600_K601delinsE-mutated lung adenocarcinoma: a case report and literature review.”

Research

A recent reply discusses the complexities of VPS16 splicing and its clinical implications, highlighting unresolved questions in the field. This dialogue contributes to the ongoing research surrounding VPS16 and its role in rare diseases.

reply to unravelling the complexity of vps16 splicing clinical implications and unresolved questions

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

Original title: “Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".”

intestinal failure–associated liver disease chronic intestinal failureResearch

Recent updates on intestinal failure management highlight advancements in treatment strategies and patient care. These findings aim to improve outcomes for individuals suffering from this complex condition.

updates on intestinal failure management

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

Original title: “Updates on intestinal failure management.”

Research

A systematic review and single-center study on metastatic Marjolin ulcers provides new insights into their clinical management and outcomes. This research highlights the need for improved understanding of this rare condition.

metastatic marjolin ulcers a systematic review and single center experience

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

Original title: “Metastatic Marjolin Ulcers: A Systematic Review and Single-center Experience.”

deafness-vitiligo-achalasia syndrome diabetes mellitusResearch

A recent study explores the screening for maternally inherited diabetes and deafness in large cohorts of hearing impaired and diabetic patients. This research highlights the genetic links between these conditions, potentially guiding future diagnostic and therapeutic strategies.

screening for maternally inherited diabetes and deafness in large cohorts of hearing impaired and diabetic patients

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

Original title: “Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.”

pseudomyogenic hemangioendotheliomaResearch

A case report details the treatment of pseudomyogenic hemangioendothelioma of the femur using intercalary resection and massive allograft reconstruction. This study contributes to the understanding of surgical approaches for this rare vascular tumor.

pseudomyogenic hemangioendothelioma of the femur treated by intercalary resection and massive allograft reconstruction a case report

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

Original title: “Pseudomyogenic Hemangioendothelioma of the Femur Treated by Intercalary Resection and Massive Allograft Reconstruction: A Case Report.”

Research

A systematic review highlights the advancements in metagenomic next-generation sequencing for diagnosing infectious diseases of the spine. This research could enhance detection and treatment strategies for these complex conditions.

research progress of metagenomic next generation sequencing in infectious diseases of the spine a systematic review

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

Original title: “Research progress of metagenomic next-generation sequencing in infectious diseases of the spine: a systematic review.”

hepatitis hepatitis B virus infection+1 moreResearch

Recent research suggests that plasma exchange may serve as a potential treatment for severe hepatitis induced by immune checkpoint inhibitors. This study highlights the need for further investigation into this therapeutic approach.

plasma exchange as potential treatment of severe immune checkpoint inhibitor induced hepatitis

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

Original title: “Plasma exchange as potential treatment of severe immune checkpoint inhibitor-induced hepatitis.”

glycogen storage disease III glycogen storage disease IIResearch

Research indicates that enhanced lysosomal glycogen breakdown may contribute to liver tumorigenesis in glycogen storage disease type III. This discovery could inform future therapeutic strategies for managing complications associated with the disease.

enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type iii

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

Original title: “Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.”

Research

A case report details fungal meningoencephalitis caused by Phanerochaete sp., contributing to the understanding of rare fungal infections. This discovery highlights the need for awareness and research into uncommon pathogens affecting the central nervous system.

fungal meningoencephalitis caused by phanerochaete sp case report

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

Original title: “Fungal meningoencephalitis caused by Phanerochaete sp.: Case report.”

prostate carcinoma adenosquamous prostate carcinoma+1 moreResearch

A case report highlights the effectiveness of multimodal imaging in diagnosing epididymal metastasis from prostate carcinoma. This study contributes to the understanding of advanced diagnostic techniques in rare cancer presentations.

role of multimodal imaging in diagnosis in the diagnosis of epididymal metastasis from prostate carcinoma a case report

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

Original title: “The role of multimodal imaging in diagnosis in the diagnosis of epididymal metastasis from prostate carcinoma: A case report.”

Research

A case report highlights the incidental discovery of a right ventricular outflow tract aneurysm in a patient diagnosed with acute pericarditis. This finding may prompt further investigation into the relationship between these two cardiac conditions.

right ventricular outflow tract aneurysm as an incidental finding in a patient with acute pericarditis a case report

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

Original title: “Right ventricular outflow tract aneurysm as an incidental finding in a patient with acute pericarditis: A case report.”

interstitial lung disease interstitial lung disease 2Research

A recent study highlights the occurrence of anti-melanoma differentiation-associated gene 5 antibody-positive interstitial lung disease in patients treated with enfortumab vedotin and pembrolizumab for advanced urothelial carcinoma. This finding underscores the need for careful monitoring of lung-related adverse effects in this patient population.

anti melanoma differentiation associated gene 5 antibody positive interstitial lung disease induced by enfortumab vedotin plus pembrolizumab for advanced urothelial carcinoma

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

Original title: “Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Interstitial Lung Disease, Induced by Enfortumab Vedotin Plus Pembrolizumab for Advanced Urothelial Carcinoma.”

Research

A recent study evaluates the efficacy and safety of remimazolam versus midazolam for sedation during endoscopic ultrasonography. This single-center retrospective cohort study provides insights into sedation practices but does not present groundbreaking findings.

efficacy and safety of remimazolam compared to midazolam for sedation during endoscopic ultrasonography a single center retrospective cohort study

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

Original title: “Efficacy and Safety of Remimazolam Compared to Midazolam for Sedation During Endoscopic Ultrasonography: A Single-Center Retrospective Cohort Study.”

Erdheim-Chester diseaseResearch

A recent study explores the outcomes of kidney transplantation in patients with Erdheim-Chester disease, providing insights into the management of this rare condition. The findings may inform future treatment strategies for affected individuals.

kidney transplantation in patients with erdheim chester disease

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

Original title: “Kidney Transplantation in Patients With Erdheim-Chester Disease.”

diabetic ketoacidosis diabetes mellitusResearch

Recent research highlights the mechanisms underlying diabetic ketoacidosis, a serious complication of diabetes. Understanding these pathways may lead to improved management strategies for affected patients.

diabetic ketoacidosis

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

Original title: “Diabetic Ketoacidosis.”

Research

Recent research highlights the complexities of neonatal endocrine diseases, emphasizing the need for improved diagnostic and treatment strategies. This study contributes to the understanding of these rare conditions affecting newborns.

neonatal endocrine diseases

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

Original title: “Neonatal Endocrine Diseases.”

Previous468 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A study analyzing whole genome sequencing data from 77,260 participants in the 100,000 Genomes Project reveals the frequency of genetic variants causing familial hypercholesterolaemia. This research contributes to understanding the genetic basis of this condition.

A recent study published in PubMed examines residual and recurrent spinal echinococcosis through MRI and intraoperative correlation in two patients. This research contributes to the understanding of this rare disease and its management.

A case report details a prior Roux-en-Y gastric bypass patient who developed a duodenal fistula following a perforated duodenal ulcer. This case highlights potential complications in patients with previous bariatric surgery.

A recent reply discusses the complexities of VPS16 splicing and its clinical implications, highlighting unresolved questions in the field. This dialogue contributes to the ongoing research surrounding VPS16 and its role in rare diseases.

Recent updates on intestinal failure management highlight advancements in treatment strategies and patient care. These findings aim to improve outcomes for individuals suffering from this complex condition.

A systematic review and single-center study on metastatic Marjolin ulcers provides new insights into their clinical management and outcomes. This research highlights the need for improved understanding of this rare condition.

A recent study explores the screening for maternally inherited diabetes and deafness in large cohorts of hearing impaired and diabetic patients. This research highlights the genetic links between these conditions, potentially guiding future diagnostic and therapeutic strategies.

A case report details the treatment of pseudomyogenic hemangioendothelioma of the femur using intercalary resection and massive allograft reconstruction. This study contributes to the understanding of surgical approaches for this rare vascular tumor.

A systematic review highlights the advancements in metagenomic next-generation sequencing for diagnosing infectious diseases of the spine. This research could enhance detection and treatment strategies for these complex conditions.

Recent research suggests that plasma exchange may serve as a potential treatment for severe hepatitis induced by immune checkpoint inhibitors. This study highlights the need for further investigation into this therapeutic approach.

Research indicates that enhanced lysosomal glycogen breakdown may contribute to liver tumorigenesis in glycogen storage disease type III. This discovery could inform future therapeutic strategies for managing complications associated with the disease.

A case report details fungal meningoencephalitis caused by Phanerochaete sp., contributing to the understanding of rare fungal infections. This discovery highlights the need for awareness and research into uncommon pathogens affecting the central nervous system.

A case report highlights the effectiveness of multimodal imaging in diagnosing epididymal metastasis from prostate carcinoma. This study contributes to the understanding of advanced diagnostic techniques in rare cancer presentations.

A case report highlights the incidental discovery of a right ventricular outflow tract aneurysm in a patient diagnosed with acute pericarditis. This finding may prompt further investigation into the relationship between these two cardiac conditions.

A recent study evaluates the efficacy and safety of remimazolam versus midazolam for sedation during endoscopic ultrasonography. This single-center retrospective cohort study provides insights into sedation practices but does not present groundbreaking findings.

A recent study explores the outcomes of kidney transplantation in patients with Erdheim-Chester disease, providing insights into the management of this rare condition. The findings may inform future treatment strategies for affected individuals.

Recent research highlights the mechanisms underlying diabetic ketoacidosis, a serious complication of diabetes. Understanding these pathways may lead to improved management strategies for affected patients.

Recent research highlights the complexities of neonatal endocrine diseases, emphasizing the need for improved diagnostic and treatment strategies. This study contributes to the understanding of these rare conditions affecting newborns.

Not rare diseases news,
news about your rare disease.