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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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autosomal dominant Alport syndrome X-linked Alport syndromeResearch

Phenotype of autosomal dominant Alport syndrome with a likely pathogenic heterozygous variant in the COL4A3 gene (Gly366Arg) and incidental teratozoospermia: A case report.

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

Research

Solitary Fibrous Tumor Developing Two Years After Primary Cranial Synovial Sarcoma: A Rare Case.

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

Research

Subhepatic appendicitis mimicking biliary disease: diagnostic pitfalls and laparoscopic management.

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

Research

Failure of early B cell tolerance and possible BCR signaling dysregulation underlie NF155-mediated autoimmune nodopathies.

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

Research

Total en bloc spondylectomy with artificial vertebral body replacement for thoracic spinal hydatidosis with hepatic involvement: a case report and literature review.

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

Research

Uncovering novel germline variants associated with testicular germ cell tumors by exome sequencing.

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

Research

Stability and Age-Specific Patterns of Rhinovirus Circulation in Children Over Three Decades.

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

Research

Liver Transplantation After Prolonged Nab-Sirolimus Therapy for Unresectable Hepatic Perivascular Epithelioid Cell Tumor With Bilobar Involvement.

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

Research

A 40-month follow-up case report examines the differences between regeneration and granulation tissue healing in a mature mandibular molar after endodontic management. This study contributes to understanding healing processes in dental treatments.

regeneration versus granulation tissue healing in a hopeless mature mandibular molar post endodontic management a 40 month follow up case report

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

Original title: “Regeneration Versus Granulation Tissue Healing in a Hopeless Mature Mandibular Molar Post-Endodontic Management: A 40-Month Follow-Up Case Report.”

rabiesResearch

A study published in PubMed highlights urban animal exposures and the administration of rabies post-exposure prophylaxis in Istanbul's emergency department. The findings provide valuable insights into rabies management in metropolitan settings.

urban animal exposures and rabies post exposure prophylaxis in istanbul turkey insights from a metropolitan emergency department

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

Original title: “Urban Animal Exposures and Rabies Post-Exposure Prophylaxis in Istanbul, Turkey: Insights from a Metropolitan Emergency Department.”

Research

A new study published in PubMed explores surgical treatment options for saccular extracranial carotid artery aneurysms. This research may provide insights into effective management strategies for this rare vascular condition.

surgical treatment of saccular extracranial carotid artery aneurysm

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

Original title: “Surgical Treatment of Saccular Extracranial Carotid Artery Aneurysm.”

Research

A case series of three patients highlights the clinical and histopathological features of oral verruciform xanthoma. This study contributes to the understanding of this rare oral lesion.

clinical and histopathological features of oral verruciform xanthoma a case series of three patients

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

Original title: “Clinical and Histopathological Features of Oral Verruciform Xanthoma: A Case Series of Three Patients.”

fibrodysplasia ossificans progressivaResearch

A recent study highlights significant knowledge, skills, and attitudinal gaps among healthcare professionals regarding the diagnosis and management of fibrodysplasia ossificans progressiva in the United States. This research underscores the need for improved education and training in this rare disease.

knowledge skills and attitudinal gaps in fibrodysplasia ossificans progressiva diagnosis and management in the united states

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

Original title: “Knowledge, skills, and attitudinal gaps in fibrodysplasia ossificans progressiva diagnosis and management in the United States.”

Wolfram syndrome Wolfram syndrome 1+1 moreResearch

A recent study identifies selected brain metabolites and mitochondrial DNA copy number as potential markers for ongoing neurodegeneration in patients with Wolfram syndrome. This research could pave the way for new diagnostic approaches in managing this rare condition.

selected brain metabolites and mitochondrial dna copy number as potential markers of ongoing neurodegeneration in patients with wolfram syndrome

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

Original title: “Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.”

Research

A case report highlights the occurrence of pulmonary thromboembolism in a patient with Behçet's disease, contributing to the understanding of this rare condition's complications. This report may inform future clinical approaches to managing thromboembolic events in affected patients.

pulmonary thromboembolism in a patient with beh et s disease a case report

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

Original title: “Pulmonary Thromboembolism in a Patient With Behçet's Disease: A Case Report.”

complete hydatidiform moleResearch

A recent case report details a postmenopausal woman diagnosed with a complete hydatidiform mole, contributing to the understanding of this rare condition. The findings may help inform future research and clinical approaches to similar cases.

postmenopausal complete hydatidiform mole a case report

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

Original title: “Postmenopausal complete hydatidiform mole: A case report.”

acute generalized exanthematous pustulosis sweet syndromeResearch

A rare case study highlights acute generalized exanthematous pustulosis-like Sweet syndrome, contributing to the understanding of this rare skin condition. The findings may inform future research and clinical approaches.

rare case of acute generalized exanthematous pustulosis like sweet syndrome

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

Original title: “A rare case of acute generalized exanthematous pustulosis-like Sweet syndrome.”

coccidioidomycosisResearch

Recent research highlights the presence of exhausted T cell phenotypes in patients with disseminated coccidioidomycosis. This study provides insights into the immune response mechanisms involved in this rare fungal infection.

exhausted t cell phenotypes in disseminated coccidioidomycosis

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

Original title: “Exhausted T cell phenotypes in disseminated coccidioidomycosis.”

Weil's disease Alzheimer disease+1 moreResearch

Penn Medicine, CHOP team awarded Breakthrough Prize for developing gene therapy for inherited blindness | Penn Today

Gene & Cell Therapy·7 months ago·Read at source →

Research

Clinicopathological Features, Treatment Response, and Outcome of Rosai-Dorfman Disease in Two Children.

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

Previous357 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Phenotype of autosomal dominant Alport syndrome with a likely pathogenic heterozygous variant in the COL4A3 gene (Gly366Arg) and incidental teratozoospermia: A case report.

Solitary Fibrous Tumor Developing Two Years After Primary Cranial Synovial Sarcoma: A Rare Case.

Subhepatic appendicitis mimicking biliary disease: diagnostic pitfalls and laparoscopic management.

Failure of early B cell tolerance and possible BCR signaling dysregulation underlie NF155-mediated autoimmune nodopathies.

Total en bloc spondylectomy with artificial vertebral body replacement for thoracic spinal hydatidosis with hepatic involvement: a case report and literature review.

Uncovering novel germline variants associated with testicular germ cell tumors by exome sequencing.

Stability and Age-Specific Patterns of Rhinovirus Circulation in Children Over Three Decades.

Liver Transplantation After Prolonged Nab-Sirolimus Therapy for Unresectable Hepatic Perivascular Epithelioid Cell Tumor With Bilobar Involvement.

A 40-month follow-up case report examines the differences between regeneration and granulation tissue healing in a mature mandibular molar after endodontic management. This study contributes to understanding healing processes in dental treatments.

A study published in PubMed highlights urban animal exposures and the administration of rabies post-exposure prophylaxis in Istanbul's emergency department. The findings provide valuable insights into rabies management in metropolitan settings.

A new study published in PubMed explores surgical treatment options for saccular extracranial carotid artery aneurysms. This research may provide insights into effective management strategies for this rare vascular condition.

A case series of three patients highlights the clinical and histopathological features of oral verruciform xanthoma. This study contributes to the understanding of this rare oral lesion.

A recent study identifies selected brain metabolites and mitochondrial DNA copy number as potential markers for ongoing neurodegeneration in patients with Wolfram syndrome. This research could pave the way for new diagnostic approaches in managing this rare condition.

A case report highlights the occurrence of pulmonary thromboembolism in a patient with Behçet's disease, contributing to the understanding of this rare condition's complications. This report may inform future clinical approaches to managing thromboembolic events in affected patients.

A recent case report details a postmenopausal woman diagnosed with a complete hydatidiform mole, contributing to the understanding of this rare condition. The findings may help inform future research and clinical approaches to similar cases.

A rare case study highlights acute generalized exanthematous pustulosis-like Sweet syndrome, contributing to the understanding of this rare skin condition. The findings may inform future research and clinical approaches.

Recent research highlights the presence of exhausted T cell phenotypes in patients with disseminated coccidioidomycosis. This study provides insights into the immune response mechanisms involved in this rare fungal infection.

Penn Medicine, CHOP team awarded Breakthrough Prize for developing gene therapy for inherited blindness | Penn Today

Clinicopathological Features, Treatment Response, and Outcome of Rosai-Dorfman Disease in Two Children.

Not rare diseases news,
news about your rare disease.