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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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triple-negative breast carcinomaResearch

A case report highlights a durable response to the combination of olaparib and PD-1 blockade in a patient with germline PALB2-mutated triple-negative breast cancer and leptomeningeal metastasis. This finding may inform future treatment strategies for similar cases.

durable response to olaparib plus continued pd 1 blockade in germline palb2 mutated triple negative breast cancer with leptomeningeal metastasis a case report

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

Original title: “Durable response to olaparib plus continued PD-1 blockade in germline PALB2-mutated triple-negative breast cancer with leptomeningeal metastasis: A case report.”

rhabdomyolysis-myalgia syndrome acute kidney injuryResearch

A case report highlights fenofibrate-associated rhabdomyolysis leading to acute kidney injury requiring dialysis, showcasing atypical clinical manifestations. This literature review may inform clinicians about rare complications linked to fenofibrate treatment.

fenofibrate associated rhabdomyolysis complicated by dialysis requiring acute kidney injury presenting with atypical clinical manifestations a case report and literature review

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

Original title: “Fenofibrate-associated rhabdomyolysis complicated by dialysis-requiring acute kidney injury presenting with atypical clinical manifestations: A case report and literature review.”

Takayasu arteritis proctitis+1 moreResearch

A case report highlights the diagnostic challenges of Takayasu arteritis in a child presenting with chronic active proctitis of unspecified etiology. This study contributes to the understanding of the complexities involved in diagnosing rare diseases.

takayasu arteritis in a child with chronic active proctitis of unspecified etiology a case report with diagnostic challenges and literature review

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

Original title: “Takayasu Arteritis in a Child with Chronic Active Proctitis of Unspecified Etiology: A Case Report with Diagnostic Challenges and Literature Review.”

familial acute necrotizing encephalopathyResearch

A recent study presents two case reports of familial acute necrotizing encephalopathy linked to SARS-CoV-2 infection, contributing to the understanding of this rare neurological condition. The literature review highlights the need for further research into the mechanisms and implications of this association.

familial acute necrotizing encephalopathy temporally associated with sars cov 2 infection two case reports and literature review

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

Original title: “Familial acute necrotizing encephalopathy temporally associated with SARS-CoV-2 infection: Two case reports and literature review.”

Evans syndrome systemic lupus erythematosus+1 moreResearch

A case report highlights the occurrence of Epstein-Barr virus (EBV) induced Evans syndrome in a patient with systemic lupus erythematosus (SLE) related macrophage activation syndrome (MAS). This finding contributes to the understanding of the interplay between viral infections and autoimmune conditions.

ebv induced evans syndrome in a patient of sle related mas a case report

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

Original title: “EBV induced Evans syndrome in a patient of SLE related MAS: A case report.”

small intestine neoplasmResearch

A case report highlights small intestine melanosis as a rare side effect of clofazimine treatment. This finding contributes to the understanding of drug-induced pigmentation changes in the gastrointestinal tract.

small intestine melanosis caused by clofazimine a case report

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

Original title: “Small intestine melanosis caused by clofazimine: A case report.”

hereditary angioedemaResearch

A post-marketing surveillance study in Japan evaluates the real-world safety and effectiveness of icatibant in patients with hereditary angioedema. The findings contribute valuable insights into the drug's performance outside of clinical trials.

real world safety and effectiveness of icatibant in patients with hereditary angioedema hae post marketing surveillance in japan

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

Original title: “Real-World Safety and Effectiveness of Icatibant in Patients With Hereditary Angioedema (HAE): Post-Marketing Surveillance in Japan.”

Research

A recent study identifies a shared genetic basis for both syndromic and normal facial variations, enhancing understanding of facial morphology. This research could inform future genetic studies and therapeutic approaches for facial dysmorphisms.

shared genetic basis and structure of syndromic and normal facial variation

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

Original title: “Shared genetic basis and structure of syndromic and normal facial variation.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

A case report details solitary colonic metastasis from hepatocellular carcinoma, contributing to a synthesis of 15 similar cases. This research enhances understanding of metastatic patterns in liver cancer.

solitary colonic metastasis from hepatocellular carcinoma a case report and synthesis of 15 published cases

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

Original title: “Solitary colonic metastasis from hepatocellular carcinoma: A case report and synthesis of 15 published cases.”

Research

A recent study published in PubMed highlights the clinical picture of IRF2BPL-related disorders based on patient and family reports. This research provides valuable insights into the symptoms and experiences of affected individuals, contributing to the understanding of this rare condition.

patient and family reported clinical picture of irf2bpl related disorders

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

Original title: “Patient and Family Reported Clinical Picture of IRF2BPL-Related Disorders.”

giant cell myocarditis idiopathic giant cell myocarditis+1 moreResearch

Recent research explores the immune pathogenesis of giant cell myocarditis, providing insights into contemporary management strategies. This study enhances understanding of the disease's underlying mechanisms and potential therapeutic approaches.

giant cell myocarditis from immune pathogenesis to contemporary management

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

Original title: “Giant cell myocarditis: from immune pathogenesis to contemporary management.”

linear IgA DermatosisResearch

A recent study published in PubMed explores linear IgA/IgG bullous dermatosis, highlighting atypical mixed linear and granular immune complex deposition. This research contributes to the understanding of the disease's immunological mechanisms.

linear iga igg bullous dermatosis with atypical mixed linear and granular immune complex deposition

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

Original title: “Linear IgA/IgG Bullous Dermatosis With Atypical Mixed Linear and Granular Immune Complex Deposition.”

purulent acute otitis media acute transudative otitis media+1 moreResearch

A multicenter retrospective study investigates severe complications of acute otitis media and sinusitis in healthy children during the COVID-19 pandemic. The findings contribute to understanding the impact of the pandemic on these common childhood infections.

multicenter retrospective study on severe complications of acute otitis media and sinusitis in healthy children in the context of covid pandemic caos kids

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

Original title: “A multicenter retrospective study on severe complications of acute otitis media and sinusitis in healthy children in the context of covid pandemic - CAOS-kids.”

Research

A study analyzing 685 rare disease patient experiences reveals the complexities surrounding family disclosure of genetic risk. The findings highlight significant emotional and social barriers that patients face when communicating genetic information to relatives.

why is family disclosure of genetic risk so difficult a collaborative analysis of 685 rare disease patient experiences

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

Original title: “Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.”

neurofibromatosis type 1 mosaic neurofibromatosis type 1Research

A recent study explores the clinical characteristics and treatment strategies for brainstem lesions in children with neurofibromatosis type 1. This research contributes to understanding the complexities of managing this rare condition.

clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1

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

Original title: “Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.”

dengue diseaseResearch

A case report highlights Guillain-Barré syndrome developing in a child post-dengue infection in Lebanon, contributing to the understanding of this rare disease's association with viral infections. The review of literature provides insights into similar cases, enhancing awareness among healthcare professionals.

guillain barr syndrome following dengue infection in a child in lebanon a case report and review of the literature

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

Original title: “Guillain-Barré syndrome following dengue infection in a child in Lebanon: a case report and review of the literature.”

primary ciliary dyskinesia primary ciliary dyskinesia 17+1 moreResearch

A systematic review evaluates the efficacy and safety of macrolide therapy in treating primary ciliary dyskinesia. The findings contribute to understanding treatment options for this rare respiratory condition.

evaluating the efficacy and safety of macrolide therapy in primary ciliary dyskinesia a systematic review

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

Original title: “Evaluating the efficacy and safety of macrolide therapy in primary ciliary dyskinesia: A systematic review.”

Research

A new study characterizes ocular developmental disorders in the Israeli population, revealing genotype-phenotype correlations and identifying novel candidate genes. This research enhances understanding of these rare conditions and may inform future therapeutic strategies.

characterization of ocular developmental disorders in the israeli population genotype phenotype correlations and novel candidate genes

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

Original title: “Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.”

Research

A recent study published in PubMed discusses a case of posterior mediastinal soft-tissue Rosai-Dorfman disease that was misdiagnosed as a neurogenic tumor. This highlights the need for awareness and accurate diagnosis of rare diseases.

posterior mediastinal soft tissue rosai dorfman disease mimicking a neurogenic tumor

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

Original title: “Posterior mediastinal soft-tissue Rosai-Dorfman disease mimicking a neurogenic tumor.”

Huntington disease Huntington disease-like 3+1 moreResearch

A recent case series and systematic review highlights early manifestations and diagnostic pathways in juvenile-onset Huntington disease, with a focus on epilepsy in three patients. This research contributes to understanding the clinical presentation and management of this rare condition.

early manifestations diagnostic pathways and epilepsy in juvenile onset huntington disease a three patient case series and systematic review

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

Original title: “Early Manifestations, Diagnostic Pathways, and Epilepsy in Juvenile-Onset Huntington Disease: A Three-Patient Case Series and Systematic Review.”

Previous149 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report highlights a durable response to the combination of olaparib and PD-1 blockade in a patient with germline PALB2-mutated triple-negative breast cancer and leptomeningeal metastasis. This finding may inform future treatment strategies for similar cases.

A case report highlights fenofibrate-associated rhabdomyolysis leading to acute kidney injury requiring dialysis, showcasing atypical clinical manifestations. This literature review may inform clinicians about rare complications linked to fenofibrate treatment.

A case report highlights the diagnostic challenges of Takayasu arteritis in a child presenting with chronic active proctitis of unspecified etiology. This study contributes to the understanding of the complexities involved in diagnosing rare diseases.

A case report highlights small intestine melanosis as a rare side effect of clofazimine treatment. This finding contributes to the understanding of drug-induced pigmentation changes in the gastrointestinal tract.

A post-marketing surveillance study in Japan evaluates the real-world safety and effectiveness of icatibant in patients with hereditary angioedema. The findings contribute valuable insights into the drug's performance outside of clinical trials.

A recent study identifies a shared genetic basis for both syndromic and normal facial variations, enhancing understanding of facial morphology. This research could inform future genetic studies and therapeutic approaches for facial dysmorphisms.

A case report details solitary colonic metastasis from hepatocellular carcinoma, contributing to a synthesis of 15 similar cases. This research enhances understanding of metastatic patterns in liver cancer.

A recent study published in PubMed highlights the clinical picture of IRF2BPL-related disorders based on patient and family reports. This research provides valuable insights into the symptoms and experiences of affected individuals, contributing to the understanding of this rare condition.

Recent research explores the immune pathogenesis of giant cell myocarditis, providing insights into contemporary management strategies. This study enhances understanding of the disease's underlying mechanisms and potential therapeutic approaches.

A recent study published in PubMed explores linear IgA/IgG bullous dermatosis, highlighting atypical mixed linear and granular immune complex deposition. This research contributes to the understanding of the disease's immunological mechanisms.

A multicenter retrospective study investigates severe complications of acute otitis media and sinusitis in healthy children during the COVID-19 pandemic. The findings contribute to understanding the impact of the pandemic on these common childhood infections.

A study analyzing 685 rare disease patient experiences reveals the complexities surrounding family disclosure of genetic risk. The findings highlight significant emotional and social barriers that patients face when communicating genetic information to relatives.

A recent study explores the clinical characteristics and treatment strategies for brainstem lesions in children with neurofibromatosis type 1. This research contributes to understanding the complexities of managing this rare condition.

A systematic review evaluates the efficacy and safety of macrolide therapy in treating primary ciliary dyskinesia. The findings contribute to understanding treatment options for this rare respiratory condition.

A new study characterizes ocular developmental disorders in the Israeli population, revealing genotype-phenotype correlations and identifying novel candidate genes. This research enhances understanding of these rare conditions and may inform future therapeutic strategies.

A recent study published in PubMed discusses a case of posterior mediastinal soft-tissue Rosai-Dorfman disease that was misdiagnosed as a neurogenic tumor. This highlights the need for awareness and accurate diagnosis of rare diseases.

A recent case series and systematic review highlights early manifestations and diagnostic pathways in juvenile-onset Huntington disease, with a focus on epilepsy in three patients. This research contributes to understanding the clinical presentation and management of this rare condition.

Not rare diseases news,
news about your rare disease.