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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

Alder-Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult.

PubMed Rare Disease·13 days ago·Read at source →

Research

Capillary gel electrophoresis analysis of the forced degradation study products of a therapeutic monoclonal antibody.

PubMed Rare Disease·13 days ago·Read at source →

Research

Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia.

PubMed Rare Disease·13 days ago·Read at source →

Research

Geographic Clustering of Idiopathic Subglottic Stenosis in North America: An Ecological Cohort Study.

PubMed Rare Disease·13 days ago·Read at source →

Research

Secondary Pulmonary Alveolar Proteinosis after Allogeneic Hematopoietic Stem Cell Transplantation in the Setting of an Respiratory Syncytial Virus Infection: A Case Report.

PubMed Rare Disease·13 days ago·Read at source →

Weil's disease Alzheimer disease+1 moreResearch

A first for CRISPR: powerful prime editing alters DNA directly in the human body | Nature

Treatment & Clinical News·13 days ago·Read at source →

Research

Anaesthetic Management of a Child with Chromosome 7q32.1 Microdeletion Undergoing Ligation of Patent Processus Vaginalis.

PubMed Rare Disease·13 days ago·Read at source →

Research

A recent study published in PubMed analyzes nearly 1 million whole-genome sequences to establish a baseline for the average individual genome. This research could enhance understanding of genetic variations associated with rare diseases.

average individual genome a survey of nearly 1 million whole genome sequences

PubMed Rare Disease·13 days ago·Read at source →

Original title: “The average individual genome: a survey of nearly 1 million whole-genome sequences.”

Research

An update to the S1-guideline for atypical fibroxanthoma and pleomorphic dermal sarcoma has been published, providing new insights into diagnosis and treatment. This guideline aims to enhance clinical practice for these rare skin tumors.

update of the s1 guideline atypical fibroxanthoma afx and pleomorphic dermal sarcoma pds

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Update of the S1-guideline atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS).”

malignancy in giant cell tumor of bone bone giant cell tumor+1 moreResearch

A multi-institutional cohort study over 25 years analyzed 42 cases of pediatric giant cell tumor of bone, providing valuable insights into this rare condition. The findings may enhance understanding and treatment approaches for affected children.

forty two cases of pediatric giant cell tumor of bone insights from a 25 year multi institutional cohort

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Forty-Two Cases of Pediatric Giant Cell Tumor of Bone: Insights From a 25-Year Multi-Institutional Cohort.”

Research

Recent Phase 1 and Phase 2 trials demonstrate the safety and immunogenicity of a 24-valent pneumococcal conjugate vaccine in healthy Chinese adults. These findings contribute to the ongoing research in vaccine development for pneumococcal diseases.

safety and immunogenicity of the 24 valent pneumococcal conjugate vaccine in healthy chinese adults two single center randomized double blind phase 1 and phase 2 trials

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Safety and immunogenicity of the 24-valent pneumococcal conjugate vaccine in healthy Chinese adults: two single-center, randomized, double-blind Phase 1 and Phase 2 trials.”

Research

Recent research highlights emerging patterns and clinical challenges associated with invasive fungal diseases in immunocompetent adults. This study provides insights into the evolving landscape of these infections, which may inform future treatment strategies.

invasive fungal diseases in immunocompetent adults emerging patterns and clinical challenges

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Invasive fungal diseases in immunocompetent adults: emerging patterns and clinical challenges.”

sarcoma sarcoma G1Research

A study on the implementation of a molecular tumor board for advanced sarcoma reveals insights into treatment outcomes in a real-world cohort. The findings highlight the potential for personalized treatment strategies in managing this complex disease.

molecular tumor board in advanced sarcoma treatment implementation and clinical outcomes in a real world cohort

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Molecular tumor board in advanced sarcoma: treatment implementation and clinical outcomes in a real-world cohort.”

Research

Recent research highlights the genetic underpinnings of Birt-Hogg-Dubé syndrome, a rare genetic disorder. This study provides insights into the mechanisms of the disease, which may inform future therapeutic strategies.

birt hogg dub syndrome

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Birt-Hogg-Dubé syndrome.”

neurofibromatosis type 1 mosaic neurofibromatosis type 1+1 moreResearch

A recent study evaluates the efficacy of MEK inhibitors in treating high-grade gliomas associated with neurofibromatosis type 1 (NF1). The findings indicate partial responses in a single-institution cohort, contributing to the understanding of treatment options for this rare disease.

mek inhibitors in nf1 associated high grade glioma partial responses and outcomes from a single institution cohort and literature review

PubMed Rare Disease·13 days ago·Read at source →

Original title: “MEK inhibitors in NF1-associated high-grade glioma: partial responses and outcomes from a single-institution cohort and literature review.”

Research

Research highlights the cytotoxic activity of selinexor in 3D cultures of pediatric low-grade glioma driven by BRAF(V600E) mutations. This study provides insights into potential therapeutic strategies for this specific tumor type.

cytotoxic activity of selinexor in braf v600e driven pediatric low grade glioma 3d cultures

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Cytotoxic activity of selinexor in BRAF(V600E)-driven pediatric low-grade glioma 3D cultures.”

Research

A recent study highlights the critical role of codon 88 in genotype-phenotype correlations for KRT17-related palmoplantar ectodermal dysplasia (PEDD). This research enhances understanding of the genetic underpinnings of the disease.

genotype phenotype correlations in krt17 pedd the critical role of codon 88

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Genotype-Phenotype Correlations in KRT17-PEDD: The Critical Role of Codon 88.”

Research

A case report details pigmented actinic lichen planus presenting similarly to chronic photodermatitis in a fair-skinned Caucasian woman. This study contributes to the understanding of skin conditions that may be misdiagnosed.

pigmented actinic lichen planus mimicking chronic photodermatitis in a fair skinned caucasian woman a case report

PubMed Rare Disease·13 days ago·Read at source →

Original title: “Pigmented Actinic Lichen Planus Mimicking Chronic Photodermatitis in a Fair-Skinned Caucasian Woman: A Case Report.”

Research

A recent publication explores the significance of male genital dermatology within andrology, highlighting its implications for patient care and treatment strategies. The study emphasizes the need for increased awareness and research in this specialized area.

impact of male genital dermatology in the field of andrology

PubMed Rare Disease·13 days ago·Read at source →

Original title: “The Impact of Male Genital Dermatology in the Field of Andrology.”

Research

A recent study highlights the challenges faced by parents navigating the health and social care systems for children with chronic conditions in Germany. Professionals emphasize the need for a more collaborative approach to support these families effectively.

it cannot depend solely on the parents professionals perspectives on patient journeys of children with chronic conditions across health and social care in germany

PubMed Rare Disease·13 days ago·Read at source →

Original title: “"It cannot depend solely on the parents"-professionals' perspectives on patient journeys of children with chronic conditions across health and social care in Germany.”

Previous20 / 478Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Alder-Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult.

Capillary gel electrophoresis analysis of the forced degradation study products of a therapeutic monoclonal antibody.

Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia.

Geographic Clustering of Idiopathic Subglottic Stenosis in North America: An Ecological Cohort Study.

Secondary Pulmonary Alveolar Proteinosis after Allogeneic Hematopoietic Stem Cell Transplantation in the Setting of an Respiratory Syncytial Virus Infection: A Case Report.

A first for CRISPR: powerful prime editing alters DNA directly in the human body | Nature

Anaesthetic Management of a Child with Chromosome 7q32.1 Microdeletion Undergoing Ligation of Patent Processus Vaginalis.

A recent study published in PubMed analyzes nearly 1 million whole-genome sequences to establish a baseline for the average individual genome. This research could enhance understanding of genetic variations associated with rare diseases.

An update to the S1-guideline for atypical fibroxanthoma and pleomorphic dermal sarcoma has been published, providing new insights into diagnosis and treatment. This guideline aims to enhance clinical practice for these rare skin tumors.

A multi-institutional cohort study over 25 years analyzed 42 cases of pediatric giant cell tumor of bone, providing valuable insights into this rare condition. The findings may enhance understanding and treatment approaches for affected children.

Recent Phase 1 and Phase 2 trials demonstrate the safety and immunogenicity of a 24-valent pneumococcal conjugate vaccine in healthy Chinese adults. These findings contribute to the ongoing research in vaccine development for pneumococcal diseases.

Recent research highlights emerging patterns and clinical challenges associated with invasive fungal diseases in immunocompetent adults. This study provides insights into the evolving landscape of these infections, which may inform future treatment strategies.

A study on the implementation of a molecular tumor board for advanced sarcoma reveals insights into treatment outcomes in a real-world cohort. The findings highlight the potential for personalized treatment strategies in managing this complex disease.

Recent research highlights the genetic underpinnings of Birt-Hogg-Dubé syndrome, a rare genetic disorder. This study provides insights into the mechanisms of the disease, which may inform future therapeutic strategies.

A recent study evaluates the efficacy of MEK inhibitors in treating high-grade gliomas associated with neurofibromatosis type 1 (NF1). The findings indicate partial responses in a single-institution cohort, contributing to the understanding of treatment options for this rare disease.

Research highlights the cytotoxic activity of selinexor in 3D cultures of pediatric low-grade glioma driven by BRAF(V600E) mutations. This study provides insights into potential therapeutic strategies for this specific tumor type.

A recent study highlights the critical role of codon 88 in genotype-phenotype correlations for KRT17-related palmoplantar ectodermal dysplasia (PEDD). This research enhances understanding of the genetic underpinnings of the disease.

A case report details pigmented actinic lichen planus presenting similarly to chronic photodermatitis in a fair-skinned Caucasian woman. This study contributes to the understanding of skin conditions that may be misdiagnosed.

A recent publication explores the significance of male genital dermatology within andrology, highlighting its implications for patient care and treatment strategies. The study emphasizes the need for increased awareness and research in this specialized area.

A recent study highlights the challenges faced by parents navigating the health and social care systems for children with chronic conditions in Germany. Professionals emphasize the need for a more collaborative approach to support these families effectively.

Not rare diseases news,
news about your rare disease.