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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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atypical hemolytic-uremic syndrome alkaptonuriaResearch

A recent study explores the intersection of atypical hemolytic uremic syndrome and alkaptonuria in two siblings, highlighting the complexities of managing multiple rare diseases. This research contributes to understanding the genetic and clinical implications of co-occurring rare conditions.

when two rare diseases meet atypical hemolytic uremic syndrome and alkaptonuria in two siblings

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.”

Research

A new narrative review discusses the implementation of expanded carrier screening in China, highlighting its potential to identify genetic disorders early. This framework aims to improve genetic counseling and healthcare outcomes for families at risk.

expanded carrier screening in china a focused narrative review and conceptual implementation framework

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.”

Research

The International 'Epiblankii' Study provides new insights into the epidemiology of Tardiomyces blankii, previously known as Candida blankii, and related species. This research contributes to the understanding of these fungi and their impact on rare diseases.

epidemiology of tardiomyces blankii formerly candida blankii and related species results of the international epiblankii study

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Epidemiology of Tardiomyces blankii (formerly Candida blankii) and related species: results of the International "Epiblankii" Study.”

Research

A recent study highlights Birt-Hogg-Dubé syndrome presenting as multiple infected pulmonary cysts, emphasizing the need for awareness of this rare condition. This research contributes to the understanding of the syndrome's clinical manifestations.

birt hogg dub syndrome masquerading as multiple infected pulmonary cysts

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Birt-Hogg- Dubé Syndrome Masquerading as Multiple Infected Pulmonary Cysts.”

congenital dyserythropoietic anemiaResearch

A recent study published in PubMed highlights endocrine complications in patients with congenital dyserythropoietic anemia. This single-center cohort study provides insights into the health challenges faced by these patients, emphasizing the need for further research.

endocrine complications in patients with congenital dyserythropoietic anemia a single center cohort study

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.”

tuberculosis hepatic tuberculosis+1 moreResearch

A case study highlights esophageal tuberculosis presenting as a neoplasm in an HIV-infected patient, emphasizing the need for differential diagnosis in similar cases. This discovery may impact clinical approaches to diagnosing esophageal conditions in immunocompromised individuals.

esophageal tuberculosis mimicking a neoplasm in a patient with hiv infection

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Esophageal tuberculosis mimicking a neoplasm in a patient with HIV infection.”

Research

A new study proposes a semantic approach to enhance cross-registry interoperability for rare disease data. This advancement aims to improve data readiness and facilitate better research and patient outcomes.

strengthening rare disease data readiness a semantic approach to cross registry interoperability

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.”

raindrop hypopigmentation hypopigmentation of the skinResearch

A study identifies MC1R gene variants in four Chinese children exhibiting red hair and hypopigmentation. This research contributes to understanding the genetic basis of pigmentation disorders.

mc1r variants in four chinese children with red hair and hypopigmentation

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “MC1R variants in four Chinese children with red hair and hypopigmentation.”

Research

A recent study highlights advancements in personalized drug discovery, bridging the gap between rare diseases and cancer treatment. This research emphasizes the potential for tailored therapies to improve patient outcomes across diverse conditions.

personalized drug discovery from rare diseases to cancer

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Personalized drug discovery from rare diseases to cancer.”

Kimura disease tuberculosis+1 moreResearch

A recent study highlights a case of isolated cervical lymph node Kimura disease in a child, which presented diagnostic challenges by mimicking tuberculosis. This research underscores the need for awareness and accurate diagnosis of rare diseases.

isolated cervical lymph node kimura disease in a child mimicking tuberculosis a diagnostic challenge

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Isolated Cervical Lymph Node Kimura Disease in a Child Mimicking Tuberculosis: A Diagnostic Challenge.”

oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy 1+1 moreResearch

A study published in PubMed reveals new insights into the genetic prevalence of oculopharyngeal muscular dystrophy linked to PABPN1 pathogenic expansions in the UK Biobank. This research may reshape understanding of the disease's genetic landscape.

pabpn1 pathogenic expansion in the uk biobank reframing genetic prevalence of oculopharyngeal muscular dystrophy

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy.”

diabetes mellitusResearch

A case study highlights Saprochaete pneumonia leading to septic shock in an elderly patient with poorly controlled diabetes mellitus. This research underscores the need for awareness of rare fungal infections in vulnerable populations.

saprochaete pneumonia presenting as septic shock in an elderly patient with poorly controlled diabetes mellitus

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Saprochaete pneumonia presenting as septic shock in an elderly patient with poorly controlled diabetes mellitus.”

Research

A new study presents an unsupervised clustering approach for undifferentiated systemic autoinflammatory diseases, potentially aiding in better diagnosis and treatment strategies. This research could enhance understanding of these complex conditions.

unsupervised clustering of undifferentiated systemic autoinflammatory diseases usaid

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Unsupervised clustering of undifferentiated systemic autoinflammatory diseases (USAID).”

Research

Recent research highlights the lung's role as an autoimmune organ, emphasizing the breach of mucosal tolerance and the potential for AI-enabled interception strategies. This study could pave the way for novel therapeutic approaches in autoimmune diseases affecting the lungs.

lung as an autoimmune organ from mucosal tolerance breach to ai enabled interception

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “The lung as an autoimmune organ: From mucosal tolerance breach to AI-enabled interception.”

ganglioneuroblastoma mediastinum ganglioneuroblastomaResearch

A recent case report and systematic review detail a rare instance of cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis. This study contributes to the understanding of this rare tumor's clinical presentation and potential treatment challenges.

cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis a case report and systematic review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis: a case report and systematic review.”

Research

Recent research highlights the effectiveness of Eltrombopag in managing severe MYH9-related disease, transitioning from delayed diagnosis to improved long-term disease control. This study underscores the potential of targeted therapies in rare genetic conditions.

from delayed recognition to long term disease control eltrombopag in severe myh9 related disease

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “From delayed recognition to long-term disease control: Eltrombopag in severe MYH9-related disease.”

Research

A new comprehensive review on cardiac paroxysmal orthodeoxia syndrome outlines the clinical suspicion and therapeutic procedures involved in managing this challenging condition. The study aims to enhance understanding and treatment approaches for affected patients.

cardiac paroxysmal orthodeoxia syndrome a comprehensive process of this challenging disease starting from the clinical suspicion till the therapeutic procedure

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Cardiac Paroxysmal Orthodeoxia Syndrome: A comprehensive process of this challenging disease starting from the clinical suspicion till the therapeutic procedure.”

Research

A recent study identifies risk factors for early poor outcomes in patients with in-hospital intracranial hemorrhage. This retrospective cohort study provides insights that could inform clinical practices and improve patient management.

correction risk factors for early poor outcomes in in hospital intracranial hemorrhage a retrospective cohort study

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Correction: Risk Factors for Early Poor Outcomes in In-hospital Intracranial Hemorrhage: A Retrospective Cohort Study.”

malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor+1 moreResearch

A nationwide analysis reveals that metastatic status significantly influences the survival outcomes of patients with malignant peripheral nerve sheath tumors receiving neoadjuvant radiotherapy. This study provides critical insights into treatment efficacy based on disease progression.

metastatic status modifies the survival association of neoadjuvant radiotherapy in malignant peripheral nerve sheath tumors a nationwide analysis

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Metastatic Status Modifies the Survival Association of Neoadjuvant Radiotherapy in Malignant Peripheral Nerve Sheath Tumors: A Nationwide Analysis.”

hypophosphatasia infantile hypophosphatasia+1 moreResearch

A study published in PubMed highlights the diagnostic yield of laboratory-based screening for hypophosphatasia in Chinese children presenting with low alkaline phosphatase levels. This research could enhance early detection and management of this rare bone disorder.

diagnostic yield of laboratory based screening for hypophosphatasia among chinese children with low alkaline phosphatase

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Diagnostic Yield of Laboratory-Based Screening for Hypophosphatasia Among Chinese Children With Low Alkaline Phosphatase.”

Previous63 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study explores the intersection of atypical hemolytic uremic syndrome and alkaptonuria in two siblings, highlighting the complexities of managing multiple rare diseases. This research contributes to understanding the genetic and clinical implications of co-occurring rare conditions.

A new narrative review discusses the implementation of expanded carrier screening in China, highlighting its potential to identify genetic disorders early. This framework aims to improve genetic counseling and healthcare outcomes for families at risk.

The International 'Epiblankii' Study provides new insights into the epidemiology of Tardiomyces blankii, previously known as Candida blankii, and related species. This research contributes to the understanding of these fungi and their impact on rare diseases.

A recent study highlights Birt-Hogg-Dubé syndrome presenting as multiple infected pulmonary cysts, emphasizing the need for awareness of this rare condition. This research contributes to the understanding of the syndrome's clinical manifestations.

A recent study published in PubMed highlights endocrine complications in patients with congenital dyserythropoietic anemia. This single-center cohort study provides insights into the health challenges faced by these patients, emphasizing the need for further research.

A case study highlights esophageal tuberculosis presenting as a neoplasm in an HIV-infected patient, emphasizing the need for differential diagnosis in similar cases. This discovery may impact clinical approaches to diagnosing esophageal conditions in immunocompromised individuals.

A new study proposes a semantic approach to enhance cross-registry interoperability for rare disease data. This advancement aims to improve data readiness and facilitate better research and patient outcomes.

A study identifies MC1R gene variants in four Chinese children exhibiting red hair and hypopigmentation. This research contributes to understanding the genetic basis of pigmentation disorders.

A recent study highlights advancements in personalized drug discovery, bridging the gap between rare diseases and cancer treatment. This research emphasizes the potential for tailored therapies to improve patient outcomes across diverse conditions.

A recent study highlights a case of isolated cervical lymph node Kimura disease in a child, which presented diagnostic challenges by mimicking tuberculosis. This research underscores the need for awareness and accurate diagnosis of rare diseases.

A study published in PubMed reveals new insights into the genetic prevalence of oculopharyngeal muscular dystrophy linked to PABPN1 pathogenic expansions in the UK Biobank. This research may reshape understanding of the disease's genetic landscape.

A case study highlights Saprochaete pneumonia leading to septic shock in an elderly patient with poorly controlled diabetes mellitus. This research underscores the need for awareness of rare fungal infections in vulnerable populations.

A new study presents an unsupervised clustering approach for undifferentiated systemic autoinflammatory diseases, potentially aiding in better diagnosis and treatment strategies. This research could enhance understanding of these complex conditions.

Recent research highlights the lung's role as an autoimmune organ, emphasizing the breach of mucosal tolerance and the potential for AI-enabled interception strategies. This study could pave the way for novel therapeutic approaches in autoimmune diseases affecting the lungs.

A recent case report and systematic review detail a rare instance of cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis. This study contributes to the understanding of this rare tumor's clinical presentation and potential treatment challenges.

Recent research highlights the effectiveness of Eltrombopag in managing severe MYH9-related disease, transitioning from delayed diagnosis to improved long-term disease control. This study underscores the potential of targeted therapies in rare genetic conditions.

A new comprehensive review on cardiac paroxysmal orthodeoxia syndrome outlines the clinical suspicion and therapeutic procedures involved in managing this challenging condition. The study aims to enhance understanding and treatment approaches for affected patients.

A recent study identifies risk factors for early poor outcomes in patients with in-hospital intracranial hemorrhage. This retrospective cohort study provides insights that could inform clinical practices and improve patient management.

A nationwide analysis reveals that metastatic status significantly influences the survival outcomes of patients with malignant peripheral nerve sheath tumors receiving neoadjuvant radiotherapy. This study provides critical insights into treatment efficacy based on disease progression.

A study published in PubMed highlights the diagnostic yield of laboratory-based screening for hypophosphatasia in Chinese children presenting with low alkaline phosphatase levels. This research could enhance early detection and management of this rare bone disorder.

Not rare diseases news,
news about your rare disease.