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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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congenital heart diseaseResearch

A study published in PubMed highlights the diagnostic yield of exome sequencing in patients with congenital heart disease in Southern Africa. This research underscores the potential of genetic testing to improve diagnosis and management in this patient population.

diagnostic yield of exome sequencing in patients with congenital heart disease from southern africa

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

Original title: “Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.”

Research

Research indicates that Xanthomonas citri pv. malvacearum can spread equally from both resistant and susceptible cotton cultivars in field conditions. This finding may impact future strategies for managing bacterial blight in cotton crops.

xanthomonas citri pv malvacearum can disseminate similarly from both cotton bacterial blight resistant and susceptible cultivars under field conditions

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

Original title: “Xanthomonas citri pv. malvacearum can disseminate similarly from both cotton bacterial blight resistant and susceptible cultivars under field conditions.”

Research

A recent study elucidates the diagnostic challenges of atypical long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) by identifying three allelic products resulting from two pathogenic variants. This research enhances understanding of the genetic underpinnings of LCHADD, potentially guiding future diagnostic approaches.

diagnostic odyssey of atypical long chain 3 hydroxyacyl coa dehydrogenase deficiency lchadd explained by three allelic products from two pathogenic variants

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

Original title: “Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.”

Research

Recent publication details two cases of anti-GBM disease successfully treated with eculizumab, highlighting its potential therapeutic role. This study contributes to the understanding of treatment options for this rare condition.

two cases of anti gbm disease treated with eculizumab

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

Original title: “Two cases of anti-GBM disease treated with eculizumab.”

epidural abscess epidural spinal canal neoplasm+1 moreResearch

A study published in PubMed reveals that severe initial neurological deficits in patients with isolated Staphylococcus aureus spinal epidural abscesses do not lead to worse outcomes compared to those with spondylodiscitis. This finding may influence treatment approaches and patient management strategies.

isolated staphylococcus aureus spinal epidural abscesses severe initial neurological deficits do not predict worse outcomes compared with spondylodiscitis associated cases

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

Original title: “Isolated Staphylococcus aureus spinal epidural abscesses: severe initial neurological deficits do not predict worse outcomes compared with spondylodiscitis-associated cases.”

systemic lupus erythematosus systemic lupus erythematosus related to C1QAResearch

A systematic review highlights the occurrence of culture-confirmed septic pericarditis in patients with systemic lupus erythematosus. This research provides insights into the complexities of managing infections in this autoimmune condition.

systematic review of culture confirmed septic pericarditis in systemic lupus erythematosus with an index case

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

Original title: “Systematic review of culture-confirmed septic pericarditis in systemic lupus erythematosus with an index case.”

Research

A new overview highlights the landscape of medical device development for rare and pediatric populations, emphasizing the unique challenges and innovations in this field. The report aims to inform stakeholders about the current state and future directions of medical devices tailored for these vulnerable groups.

medical device development and innovation for rare and pediatric populations a global landscape overview

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

Original title: “Medical device development and innovation for rare and pediatric populations: a global landscape overview.”

temporomandibular joint disorder temporomandibular joint dysfunction syndromeResearch

A case report details traumatic intracranial displacement of an intact temporomandibular joint condyle, contributing to the understanding of this rare occurrence. The literature review provides insights into the mechanisms and implications of such injuries.

traumatic intracranial displacement of an intact temporomandibular joint condyle a case report and literature review

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

Original title: “Traumatic Intracranial Displacement of an Intact Temporomandibular Joint Condyle: A Case Report and Literature Review.”

necrotizing enterocolitis perinatal necrotizing enterocolitisResearch

Recent research highlights the role of the SUCNR1/HIF-1α/BNIP3 axis in exacerbating necrotizing enterocolitis through succinate-induced apoptosis in intestinal epithelial cells. This discovery could inform future therapeutic strategies for this serious condition.

necrotizing enterocolitis is exacerbated through sucnr1 hif 1 bnip3 axis mediated succinate induced intestinal epithelial cell apoptosis

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

Original title: “Necrotizing enterocolitis is exacerbated through SUCNR1/HIF-1α/BNIP3 axis-mediated succinate-induced intestinal epithelial cell apoptosis.”

cancer esophageal cancerResearch

New research explores the interaction between epigenetics and metabolism in malignant cells, shedding light on potential therapeutic targets. This study could inform future strategies for treating various cancers.

crosstalk between epigenetics and metabolism in the malignant cell

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

Original title: “The crosstalk between epigenetics and metabolism in the malignant cell.”

achalasia idiopathic achalasia+1 moreResearch

Recent research highlights advancements in endoscopic and surgical therapies for achalasia, a rare esophageal disorder. These modern treatment options aim to improve patient outcomes and quality of life.

modern treatment for achalasia endoscopic and surgical therapies

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

Original title: “Modern Treatment for Achalasia: Endoscopic and Surgical therapies.”

Research

Recent research highlights the association between ptosis and xanthogranulomatous disease, providing insights into the diagnostic challenges of this rare condition. Understanding these symptoms can enhance clinical recognition and management.

symptom ptosis diagnosis xanthogranulomatous disease

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

Original title: “[Symptom: ptosis-Diagnosis: xanthogranulomatous disease].”

inclusion body myositisResearch

A new study explores the use of muscle ultrasound in inclusion body myositis, integrating qualitative and quantitative methods alongside clinical and MRI findings. This research may enhance diagnostic accuracy and patient management strategies.

muscle ultrasound in inclusion body myositis integrating qualitative and quantitative approaches with clinical and mri findings

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

Original title: “Muscle Ultrasound in Inclusion Body Myositis: Integrating Qualitative and Quantitative Approaches With Clinical and MRI Findings.”

parkinsonism-dystonia, infantile torsion dystonia 17Research

A case report highlights dystonia as an early symptom in a patient with a CYP2U1 gene mutation, expanding the known phenotype of SPG56. This finding may enhance understanding of the disease's clinical presentation.

dystonia as an early and prominent feature in a patient with cyp2u1 gene mutation expanding the phenotype of spg56 a case report

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

Original title: “Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report.”

pericarditis camptodactyly-arthropathy-coxa vara-pericarditis syndrome+1 moreResearch

A new publication discusses the ABCDE framework for managing complex pericarditis cases, providing insights into diagnosis and treatment strategies. This research may enhance clinical approaches to this challenging condition.

abcde of complex pericarditis cases

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

Original title: “ABCDE of complex pericarditis cases.”

Research

A rare case report details synovial lipomatosis of the ankle associated with sural nerve neuropathy. This case contributes to the understanding of the clinical implications of this uncommon condition.

synovial lipomatosis of ankle with sural nerve neuropathy a rare case report

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

Original title: “Synovial Lipomatosis of Ankle with Sural Nerve Neuropathy: A Rare Case Report.”

rosacea rosacea conjunctivitisResearch

A case study highlights pustular rosacea in an 8-year-old, showcasing a rare pediatric presentation of this condition. This discovery may prompt further research into the manifestations of rosacea in younger populations.

pustular rosacea in an 8 year old patient a rare presentation of pediatric rosacea

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

Original title: “Pustular Rosacea in an 8-Year-Old Patient: A Rare Presentation of Pediatric Rosacea.”

autoimmune pulmonary alveolar proteinosis hereditary pulmonary alveolar proteinosisResearch

A systematic review and meta-analysis evaluates the efficacy and safety of inhaled GM-CSF in treating autoimmune pulmonary alveolar proteinosis. The findings contribute to understanding potential therapeutic options for this rare lung disease.

efficacy and safety of inhaled gm csf in autoimmune pulmonary alveolar proteinosis a systematic review and meta analysis of randomized controlled trials

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

Original title: “Efficacy and Safety of Inhaled GM-CSF in Autoimmune Pulmonary Alveolar Proteinosis: A Systematic Review and Meta-analysis of Randomized Controlled Trials.”

Research

A recent study published in PubMed highlights the prevalence of germline variants in USP8, USP48, CABLES1, and PAM among patients with pituitary adenomas. This research could inform future genetic screening and therapeutic strategies for affected individuals.

prevalence of germline variants in usp8 usp48 cables1 and pam in patients with pituitary adenomas

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

Original title: “Prevalence of germline variants in USP8, USP48, CABLES1 and PAM in patients with pituitary adenomas.”

Research

A recent study explores the clinical features and genetic associations of chronic active Epstein-Barr virus infection in adults. This research may provide insights into the underlying mechanisms of the disease and potential therapeutic targets.

clinical features and whole genome snp association study of chronic active epstein barr virus infection in adults

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

Original title: “Clinical features and whole-genome snp association study of chronic active Epstein-Barr virus infection in adults.”

Previous342 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A study published in PubMed highlights the diagnostic yield of exome sequencing in patients with congenital heart disease in Southern Africa. This research underscores the potential of genetic testing to improve diagnosis and management in this patient population.

Research indicates that Xanthomonas citri pv. malvacearum can spread equally from both resistant and susceptible cotton cultivars in field conditions. This finding may impact future strategies for managing bacterial blight in cotton crops.

Recent publication details two cases of anti-GBM disease successfully treated with eculizumab, highlighting its potential therapeutic role. This study contributes to the understanding of treatment options for this rare condition.

A systematic review highlights the occurrence of culture-confirmed septic pericarditis in patients with systemic lupus erythematosus. This research provides insights into the complexities of managing infections in this autoimmune condition.

A case report details traumatic intracranial displacement of an intact temporomandibular joint condyle, contributing to the understanding of this rare occurrence. The literature review provides insights into the mechanisms and implications of such injuries.

Recent research highlights the role of the SUCNR1/HIF-1α/BNIP3 axis in exacerbating necrotizing enterocolitis through succinate-induced apoptosis in intestinal epithelial cells. This discovery could inform future therapeutic strategies for this serious condition.

New research explores the interaction between epigenetics and metabolism in malignant cells, shedding light on potential therapeutic targets. This study could inform future strategies for treating various cancers.

Recent research highlights advancements in endoscopic and surgical therapies for achalasia, a rare esophageal disorder. These modern treatment options aim to improve patient outcomes and quality of life.

Recent research highlights the association between ptosis and xanthogranulomatous disease, providing insights into the diagnostic challenges of this rare condition. Understanding these symptoms can enhance clinical recognition and management.

A new study explores the use of muscle ultrasound in inclusion body myositis, integrating qualitative and quantitative methods alongside clinical and MRI findings. This research may enhance diagnostic accuracy and patient management strategies.

A case report highlights dystonia as an early symptom in a patient with a CYP2U1 gene mutation, expanding the known phenotype of SPG56. This finding may enhance understanding of the disease's clinical presentation.

A new publication discusses the ABCDE framework for managing complex pericarditis cases, providing insights into diagnosis and treatment strategies. This research may enhance clinical approaches to this challenging condition.

A rare case report details synovial lipomatosis of the ankle associated with sural nerve neuropathy. This case contributes to the understanding of the clinical implications of this uncommon condition.

A case study highlights pustular rosacea in an 8-year-old, showcasing a rare pediatric presentation of this condition. This discovery may prompt further research into the manifestations of rosacea in younger populations.

A systematic review and meta-analysis evaluates the efficacy and safety of inhaled GM-CSF in treating autoimmune pulmonary alveolar proteinosis. The findings contribute to understanding potential therapeutic options for this rare lung disease.

A recent study published in PubMed highlights the prevalence of germline variants in USP8, USP48, CABLES1, and PAM among patients with pituitary adenomas. This research could inform future genetic screening and therapeutic strategies for affected individuals.

A recent study explores the clinical features and genetic associations of chronic active Epstein-Barr virus infection in adults. This research may provide insights into the underlying mechanisms of the disease and potential therapeutic targets.

Not rare diseases news,
news about your rare disease.