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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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neutropenia immunodeficiency 87 and autoimmunity+1 moreResearch

Recent research identifies autosomal dominant gain-of-function mutations in the LCP1 gene as the cause of a new syndromic neutropenia and immunodeficiency. This discovery enhances understanding of the genetic basis for these conditions and may inform future therapeutic strategies.

autosomal dominant gain of function mutations in lcp1 cause a syndromic neutropenia and immunodeficiency

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.”

Duchenne muscular dystrophy Becker muscular dystrophyResearch

New research identifies biomarkers linked to the pathological progression of dystrophinopathies, which could enhance patient monitoring and treatment strategies. This discovery may lead to improved clinical outcomes for affected individuals.

identification of biomarkers associated with pathological dynamic progression in dystrophinopathies

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Identification of biomarkers associated with pathological dynamic progression in dystrophinopathies.”

Research

Letter: Therapeutic Targeting of PPARs in PBC-Additional Considerations.

PubMed Rare Disease·6 months ago·Read at source →

neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 3+1 moreResearch

A study identifies a naturally occurring lysosomal storage disease resembling neuronal ceroid lipofuscinosis in five related captive rhesus macaques. This discovery may provide insights into the disease mechanisms and potential therapeutic approaches for similar conditions in humans.

naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques macaca mulatta

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (Macaca mulatta).”

CSF1R-related disorderResearch

Research highlights the potential of human microglia transplantation as a treatment for CSF1R-related disorders. This study paves the way for future clinical applications in addressing this rare condition.

path to clinical application of human microglia transplantation for the treatment of csf1r related disorder

PubMed Rare Disease·6 months ago·Read at source →

Original title: “The path to clinical application of human microglia transplantation for the treatment of CSF1R-Related disorder.”

primary sclerosing cholangitis sclerosing cholangitisResearch

New research indicates that quantitative magnetic resonance cholangiopancreatography metrics can enhance prognostication in primary sclerosing cholangitis. This advancement may lead to improved patient management strategies.

quantitative magnetic resonance cholangiopancreatography metrics improve prognostication in primary sclerosing cholangitis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Quantitative magnetic resonance cholangiopancreatography metrics improve prognostication in primary sclerosing cholangitis.”

Langerhans cell histiocytosis Langerhans cell histiocytosis specific to adulthood+1 moreResearch

A study published in PubMed highlights the use of clofarabine for treating relapsed or refractory Langerhans cell histiocytosis and non-LC histiocytosis. This research contributes to the understanding of treatment options for these rare diseases.

clofarabine for relapsed refractory langerhans cell lc and non lc histiocytosis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Clofarabine for relapsed/refractory Langerhans cell (LC) and non-LC histiocytosis.”

Research

A new case series highlights atypical thyroid lab and imaging findings in patients with steroid-responsive encephalopathy associated with autoimmune thyroiditis. This research contributes to the understanding of SREAT and its clinical presentation.

case series of steroid responsive encephalopathy associated with autoimmune thyroiditis sreat with atypical thyroid lab and imaging findings

PubMed Rare Disease·6 months ago·Read at source →

Original title: “A Case Series of Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis (SREAT) With Atypical Thyroid Lab and Imaging Findings.”

squamous cell carcinoma squamous cell carcinoma of penis+1 moreResearch

A case report details advanced periorbital squamous cell carcinoma complicated by extensive facial myiasis in a homeless patient. This unique presentation highlights the intersection of severe skin cancer and parasitic infection, emphasizing the need for awareness in vulnerable populations.

advanced periorbital squamous cell carcinoma complicated by extensive facial myiasis in a homeless patient a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Advanced Periorbital Squamous Cell Carcinoma Complicated by Extensive Facial Myiasis in a Homeless Patient: A Case Report.”

thromboangiitis obliteransResearch

A recent study published in PubMed examines the outcomes of endovascular revascularization for upper limb thromboangiitis obliterans through palmar arch angioplasty. This research contributes to understanding treatment options for this rare vascular condition.

outcomes of endovascular revascularization of upper limb thromboangiitis obliterans via palmar arch angioplasty

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Outcomes of endovascular revascularization of upper limb thromboangiitis obliterans via palmar arch angioplasty.”

Research

A new study explores the mechanisms behind muscle stiffness caused by neuromuscular hyperexcitability. This research could provide insights into potential therapeutic targets for managing muscle stiffness in affected patients.

muscle stiffness due to neuromuscular hyperexcitability

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Muscle Stiffness due to Neuromuscular Hyperexcitability.”

hemophagocytic lymphohistiocytosis, familial, 6Research

A recent study highlights the association of hemophagocytic lymphohistiocytosis with infections from Legionella pneumophila and SARS-CoV-2 in patients with GATA2 deficiency. This research adds to the understanding of how specific infections can trigger severe immune responses in genetically predisposed individuals.

hemophagocytic lymphohistiocytosis triggered by legionella pneumophila and sars cov 2 infection in gata2 deficiency

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Hemophagocytic Lymphohistiocytosis Triggered by Legionella pneumophila and SARS-CoV-2 Infection in GATA2 Deficiency.”

desmoid tumorResearch

A recent study highlights a rare case of a desmoid tumor located at the porta hepatis, presenting unique clinical challenges. This discovery adds to the understanding of desmoid tumors and their atypical presentations.

desmoid tumor of the porta hepatis a rare location with unusual clinical presentation

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Desmoid Tumor of the Porta Hepatis: A Rare Location With Unusual Clinical Presentation.”

infective endocarditisResearch

A study characterizes Pseudomonas aeruginosa isolates linked to infective endocarditis through genomic, proteolytic, and phenotypic analysis. This research enhances understanding of the pathogen's role in this serious infection.

genomic proteolytic and phenotypic characterization of pseudomonas aeruginosa isolates causing infective endocarditis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Genomic, proteolytic, and phenotypic characterization of Pseudomonas aeruginosa isolates causing infective endocarditis.”

Research

A recent publication reviews the evolution of Janus kinase inhibitors (JAKi) over the past 30 years, highlighting their applications in both common and rare diseases. The study provides insights into the therapeutic potential and development trends of these agents.

development trends of janus kinase inhibitors jaki over three decades from common to rare diseases

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Development Trends of Janus Kinase Inhibitors (JAKi) Over Three Decades: From Common to Rare Diseases.”

Research

A recent author correction highlights advancements in genome-wide fine-mapping techniques that enhance the identification of causal variants in rare diseases. This improvement could lead to better understanding and treatment options for affected patients.

author correction genome wide fine mapping improves identification of causal variants

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Author Correction: Genome-wide fine-mapping improves identification of causal variants.”

Research

Research reveals that endothelial cell-secreted SPARC suppresses CD59 expression in astrocytes, contributing to astrocytopathy in a mouse model of neuromyelitis optica spectrum disorders. This study enhances understanding of the disease mechanisms involved in neuromyelitis optica.

endothelial cell secreted sparc suppresses astrocytic cd59 expression and promotes astrocytopathy in a mouse model of neuromyelitis optica spectrum disorders

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Endothelial cell-secreted SPARC suppresses astrocytic CD59 expression and promotes astrocytopathy in a mouse model of neuromyelitis optica spectrum disorders.”

gestational choriocarcinoma non-gestational choriocarcinoma+1 moreResearch

New research explores the GSK-3β/mTOR axis as a potential target to overcome chemoresistance in gestational choriocarcinoma. This study highlights molecular mechanisms and therapeutic opportunities that could enhance treatment efficacy.

targeting the gsk 3 mtor axis to overcome chemoresistance in gestational choriocarcinoma molecular mechanisms and therapeutic opportunities

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Targeting the GSK-3β/mTOR axis to overcome chemoresistance in gestational choriocarcinoma: molecular mechanisms and therapeutic opportunities.”

primary sclerosing cholangitis sclerosing cholangitisResearch

A new study investigates the long-term safety and biochemical response of fibrate therapy in patients with primary sclerosing cholangitis. The findings contribute to understanding disease progression and potential treatment options for this rare liver condition.

long term add on fibrate therapy in primary sclerosing cholangitis safety biochemical response and disease progression

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Long-term add-on fibrate therapy in Primary Sclerosing Cholangitis: Safety, biochemical response, and disease progression.”

Research

Research highlights the unique firing properties and transcriptomic signatures of spindle neurons in the human cortex. These findings may provide insights into neurological conditions and their underlying mechanisms.

spindle neurons in human cortex possess distinctive firing properties and transcriptomic signatures

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Spindle neurons in human cortex possess distinctive firing properties and transcriptomic signatures.”

Previous310 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Recent research identifies autosomal dominant gain-of-function mutations in the LCP1 gene as the cause of a new syndromic neutropenia and immunodeficiency. This discovery enhances understanding of the genetic basis for these conditions and may inform future therapeutic strategies.

New research identifies biomarkers linked to the pathological progression of dystrophinopathies, which could enhance patient monitoring and treatment strategies. This discovery may lead to improved clinical outcomes for affected individuals.

Letter: Therapeutic Targeting of PPARs in PBC-Additional Considerations.

A study identifies a naturally occurring lysosomal storage disease resembling neuronal ceroid lipofuscinosis in five related captive rhesus macaques. This discovery may provide insights into the disease mechanisms and potential therapeutic approaches for similar conditions in humans.

Research highlights the potential of human microglia transplantation as a treatment for CSF1R-related disorders. This study paves the way for future clinical applications in addressing this rare condition.

New research indicates that quantitative magnetic resonance cholangiopancreatography metrics can enhance prognostication in primary sclerosing cholangitis. This advancement may lead to improved patient management strategies.

A study published in PubMed highlights the use of clofarabine for treating relapsed or refractory Langerhans cell histiocytosis and non-LC histiocytosis. This research contributes to the understanding of treatment options for these rare diseases.

A new case series highlights atypical thyroid lab and imaging findings in patients with steroid-responsive encephalopathy associated with autoimmune thyroiditis. This research contributes to the understanding of SREAT and its clinical presentation.

A case report details advanced periorbital squamous cell carcinoma complicated by extensive facial myiasis in a homeless patient. This unique presentation highlights the intersection of severe skin cancer and parasitic infection, emphasizing the need for awareness in vulnerable populations.

A recent study published in PubMed examines the outcomes of endovascular revascularization for upper limb thromboangiitis obliterans through palmar arch angioplasty. This research contributes to understanding treatment options for this rare vascular condition.

A new study explores the mechanisms behind muscle stiffness caused by neuromuscular hyperexcitability. This research could provide insights into potential therapeutic targets for managing muscle stiffness in affected patients.

A recent study highlights a rare case of a desmoid tumor located at the porta hepatis, presenting unique clinical challenges. This discovery adds to the understanding of desmoid tumors and their atypical presentations.

A study characterizes Pseudomonas aeruginosa isolates linked to infective endocarditis through genomic, proteolytic, and phenotypic analysis. This research enhances understanding of the pathogen's role in this serious infection.

A recent publication reviews the evolution of Janus kinase inhibitors (JAKi) over the past 30 years, highlighting their applications in both common and rare diseases. The study provides insights into the therapeutic potential and development trends of these agents.

A recent author correction highlights advancements in genome-wide fine-mapping techniques that enhance the identification of causal variants in rare diseases. This improvement could lead to better understanding and treatment options for affected patients.

Research reveals that endothelial cell-secreted SPARC suppresses CD59 expression in astrocytes, contributing to astrocytopathy in a mouse model of neuromyelitis optica spectrum disorders. This study enhances understanding of the disease mechanisms involved in neuromyelitis optica.

New research explores the GSK-3β/mTOR axis as a potential target to overcome chemoresistance in gestational choriocarcinoma. This study highlights molecular mechanisms and therapeutic opportunities that could enhance treatment efficacy.

A new study investigates the long-term safety and biochemical response of fibrate therapy in patients with primary sclerosing cholangitis. The findings contribute to understanding disease progression and potential treatment options for this rare liver condition.

Research highlights the unique firing properties and transcriptomic signatures of spindle neurons in the human cortex. These findings may provide insights into neurological conditions and their underlying mechanisms.

Not rare diseases news,
news about your rare disease.