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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 case report details dental rehabilitation under general anesthesia for a child with a heterozygous BCL11B variant. This study highlights the challenges and considerations in managing dental care for patients with rare genetic variants.

dental rehabilitation under general anesthesia in an outpatient setting for a child with a heterozygous bcl11b variant a case report

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

Original title: “Dental rehabilitation under general anesthesia in an outpatient setting for a child with a heterozygous BCL11B variant: a case report.”

Research

A recent study highlights the prevalence and management challenges of nonepithelial ovarian cancer in Sub-Saharan Africa. This research provides valuable insights into the unique aspects of this cancer type in a specific geographical context.

prevalence and management of nonepithelial ovarian cancer in a sub saharan african setting

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

Original title: “Prevalence and Management of Nonepithelial Ovarian Cancer in a Sub-Saharan African Setting.”

Research

Research highlights the sustainable cultivation of rare medicinal plants to produce multicellular spheroids that generate bioactive therapeutics for alcohol-related liver disease. This innovative approach could lead to new treatment options for this condition.

sustainable cultivation of rare and endangered medicinal plant multicellular spheroids producing bioactive therapeutics for alcohol related liver disease therapy

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

Original title: “Sustainable Cultivation of Rare and Endangered Medicinal Plant Multicellular Spheroids Producing Bioactive Therapeutics for Alcohol-Related Liver Disease Therapy.”

vanishing lung syndrome Hodgkin's lymphoma, mixed cellularity+1 moreResearch

A recent study highlights vanishing bile duct syndrome as a rare hepatic paraneoplastic syndrome associated with Hodgkin's lymphoma. This discovery may enhance understanding of the disease's complications and guide future research.

vanishing bile duct syndrome as an uncommon hepatic paraneoplastic syndrome in hodgkin s lymphoma

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

Original title: “Vanishing Bile Duct Syndrome as an Uncommon Hepatic Paraneoplastic Syndrome in Hodgkin's Lymphoma.”

pulmonary fibrosisResearch

A study published in PubMed examines the role of mosaic loss of chromosome Y in pulmonary fibrosis, finding limited association with disease susceptibility or severity. This research contributes to the understanding of genetic factors in pulmonary fibrosis.

assessment of mosaic loss of chromosome y in pulmonary fibrosis reveals limited association with susceptibility or disease severity

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

Original title: “Assessment of mosaic loss of chromosome Y in pulmonary fibrosis reveals limited association with susceptibility or disease severity.”

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 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.”

Research

A recent study details two cases of eosinophilic bronchiolitis diagnosed via transbronchial lung cryobiopsy and treated effectively with biologic agents. This report contributes to the understanding of treatment options for this rare condition.

eosinophilic bronchiolitis diagnosed by a transbronchial lung cryobiopsy and successfully treated with biologic agents a report of two cases and literature review

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

Original title: “Eosinophilic Bronchiolitis Diagnosed by a Transbronchial Lung Cryobiopsy and Successfully Treated with Biologic Agents: A Report of Two Cases and Literature Review.”

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.”

familial hypodysfibrinogenemiaResearch

A novel missense variant in the gamma chain of fibrinogen has been identified, causing hypodysfibrinogenemia in an asymptomatic Danish family. This discovery adds to the understanding of genetic variations affecting fibrinogen function.

novel missense variant c 1172a t p asn391ile in the gamma chain of fibrinogen causing hypodysfibrinogenemia in an asymptomatic danish family and review of adjacent variants

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

Original title: “A novel missense variant (c.1172A>T, p.Asn391Ile) in the gamma chain of fibrinogen causing hypodysfibrinogenemia in an asymptomatic Danish family and review of adjacent variants.”

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.”

developmental and epileptic encephalopathy, 25 developmental and epileptic encephalopathy, 34+1 moreResearch

Research highlights citrate's potential as a diagnostic biomarker for SLC13A5-developmental and epileptic encephalopathy. This discovery could enhance early diagnosis and treatment strategies for affected patients.

emerging role of citrate as a diagnostic biomarker in slc13a5 developmental and epileptic encephalopathy

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

Original title: “The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.”

fibrous dysplasia polyostotic fibrous dysplasia+1 moreResearch

A multi-center retrospective study focuses on optimizing surgical management for craniofacial and orbital fibrous dysplasia. The findings aim to enhance treatment strategies for this rare condition.

optimizing surgical management of craniofacial and orbital fibrous dysplasia a multi center retrospective study

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

Original title: “Optimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi-Center Retrospective Study.”

familial hemophagocytic lymphohistiocytosis 5 familial hemophagocytic lymphohistiocytosis 4Research

A novel homozygous PRF1 variant has been identified as a cause of atypical familial hemophagocytic lymphohistiocytosis in patients with severe COVID-19. This discovery enhances understanding of the genetic factors contributing to this rare disease.

severe covid 19 unveils atypical familial hemophagocytic lymphohistiocytosis due to a novel homozygous prf1 variant

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

Original title: “Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous PRF1 Variant.”

Research

A case report highlights Grisel's syndrome as an early manifestation of Kawasaki disease, potentially preceding Kawasaki disease shock syndrome. This finding may influence early diagnosis and treatment strategies for affected patients.

grisel s syndrome as an early manifestation of kawasaki disease preceding kawasaki disease shock syndrome a case report

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

Original title: “Grisel's syndrome as an early manifestation of Kawasaki disease preceding Kawasaki disease shock syndrome: a case report.”

Danon diseaseResearch

Recent research highlights the regression of massive left ventricular hypertrophy in Danon disease, suggesting potential new therapeutic avenues. This study contributes to the understanding of cardiac manifestations in this rare genetic condition.

regression of massive left ventricular hypertrophy in danon disease

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

Original title: “Regression of massive left ventricular hypertrophy in Danon disease.”

Research

A recent publication reviews the multifaceted mechanisms and therapeutic potential of mazindol, which has been studied for over 50 years. The findings highlight its emerging applications in treating various conditions, although specific diseases were not detailed.

mazindol immediate release sustained release ir sr a 50 year legacy of multifaceted mechanisms and emerging therapeutic potential

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

Original title: “Mazindol Immediate-Release/Sustained-Release (IR/SR): A 50-Year Legacy of Multifaceted Mechanisms and Emerging Therapeutic Potential.”

Research

A recent study published in PubMed highlights gastrointestinal manifestations in late-onset Pompe disease and the effects of enzyme replacement therapy. This cross-sectional analysis provides new insights into patient experiences and treatment outcomes.

gastrointestinal manifestations and enzyme replacement therapy in late onset pompe disease insights from a cross sectional analysis

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

Original title: “Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis.”

adrenoleukodystrophy X-linked cerebral adrenoleukodystrophyResearch

A new study characterizes the phenotypic features and natural history of adrenoleukodystrophy in adults, providing valuable insights into the disease's progression. This research enhances understanding of the condition, which may inform future therapeutic strategies.

adrenoleukodystrophy in adults phenotypic characterisation and natural history in a large cohort

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

Original title: “Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.”

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".”

Previous467 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report details dental rehabilitation under general anesthesia for a child with a heterozygous BCL11B variant. This study highlights the challenges and considerations in managing dental care for patients with rare genetic variants.

A recent study highlights the prevalence and management challenges of nonepithelial ovarian cancer in Sub-Saharan Africa. This research provides valuable insights into the unique aspects of this cancer type in a specific geographical context.

Research highlights the sustainable cultivation of rare medicinal plants to produce multicellular spheroids that generate bioactive therapeutics for alcohol-related liver disease. This innovative approach could lead to new treatment options for this condition.

A recent study highlights vanishing bile duct syndrome as a rare hepatic paraneoplastic syndrome associated with Hodgkin's lymphoma. This discovery may enhance understanding of the disease's complications and guide future research.

A study published in PubMed examines the role of mosaic loss of chromosome Y in pulmonary fibrosis, finding limited association with disease susceptibility or severity. This research contributes to the understanding of genetic factors in pulmonary fibrosis.

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.

A recent study details two cases of eosinophilic bronchiolitis diagnosed via transbronchial lung cryobiopsy and treated effectively with biologic agents. This report contributes to the understanding of treatment options for 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 novel missense variant in the gamma chain of fibrinogen has been identified, causing hypodysfibrinogenemia in an asymptomatic Danish family. This discovery adds to the understanding of genetic variations affecting fibrinogen function.

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.

Research highlights citrate's potential as a diagnostic biomarker for SLC13A5-developmental and epileptic encephalopathy. This discovery could enhance early diagnosis and treatment strategies for affected patients.

A multi-center retrospective study focuses on optimizing surgical management for craniofacial and orbital fibrous dysplasia. The findings aim to enhance treatment strategies for this rare condition.

A novel homozygous PRF1 variant has been identified as a cause of atypical familial hemophagocytic lymphohistiocytosis in patients with severe COVID-19. This discovery enhances understanding of the genetic factors contributing to this rare disease.

A case report highlights Grisel's syndrome as an early manifestation of Kawasaki disease, potentially preceding Kawasaki disease shock syndrome. This finding may influence early diagnosis and treatment strategies for affected patients.

Recent research highlights the regression of massive left ventricular hypertrophy in Danon disease, suggesting potential new therapeutic avenues. This study contributes to the understanding of cardiac manifestations in this rare genetic condition.

A recent publication reviews the multifaceted mechanisms and therapeutic potential of mazindol, which has been studied for over 50 years. The findings highlight its emerging applications in treating various conditions, although specific diseases were not detailed.

A recent study published in PubMed highlights gastrointestinal manifestations in late-onset Pompe disease and the effects of enzyme replacement therapy. This cross-sectional analysis provides new insights into patient experiences and treatment outcomes.

A new study characterizes the phenotypic features and natural history of adrenoleukodystrophy in adults, providing valuable insights into the disease's progression. This research enhances understanding of the condition, which may inform future therapeutic strategies.

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.

Not rare diseases news,
news about your rare disease.