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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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fibronectin glomerulopathy glomerulopathy with fibronectin deposits 2+1 moreResearch

A case report highlights the occurrence of concomitant fibronectin glomerulopathy and chronic active antibody-mediated rejection in a renal allograft. This study contributes to the understanding of complex renal transplant complications.

concomitant fibronectin glomerulopathy and chronic active antibody mediated rejection in a renal allograft a case report and literature review

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

Original title: “Concomitant Fibronectin Glomerulopathy and Chronic Active Antibody-mediated Rejection in a Renal Allograft: A Case Report and Literature Review.”

Research

A recent study highlights the combined occurrence of cardiovascular and bone events in individuals with kidney stone disease. This research may inform future investigations into the systemic effects of kidney stones on overall health.

combined occurrence of cardiovascular and bone events in individuals with kidney stone disease

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

Original title: “Combined occurrence of cardiovascular and bone events in individuals with kidney stone disease.”

type 1 diabetes mellitus type 1 diabetes mellitus 7+1 moreResearch

A nationwide registry analysis reveals significant health inequities in older adults with type 1 diabetes, highlighting disparities in glycaemic control and complications. The study underscores the need for targeted interventions to address these inequities.

health inequities in older adults with type 1 diabetes a nationwide registry analysis of sociodemographic and clinical profiles for glycaemic control and complications

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

Original title: “Health Inequities in Older Adults With Type 1 Diabetes: A Nationwide Registry Analysis of Sociodemographic and Clinical Profiles for Glycaemic Control and Complications.”

hereditary breast carcinoma breast carcinoma+1 moreResearch

A case study highlights synchronous tumor-to-tumor metastasis of breast carcinoma to an intracranial meningioma. This rare occurrence underscores the complexity of metastatic pathways in cancer.

synchronous tumor to tumor metastasis of breast carcinoma to intracranial meningioma illustrative case

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

Original title: “Synchronous tumor-to-tumor metastasis of breast carcinoma to intracranial meningioma: illustrative case.”

Research

A new study reexamines the sphenoparietal sinus and its role in lesser sphenoid wing dural arteriovenous fistulas, providing illustrative cases that may influence future treatment approaches. This research could enhance understanding of vascular anomalies in the brain.

rethinking the sphenoparietal sinus implications for lesser sphenoid wing dural arteriovenous fistulas illustrative cases

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

Original title: “Rethinking the sphenoparietal sinus: implications for lesser sphenoid wing dural arteriovenous fistulas. Illustrative cases.”

Research

A case study highlights the occurrence of a cerebral abscess caused by Cladophialophora bantiana in an immunocompetent individual following chainsaw activity. This research underscores the potential risks associated with environmental exposure to this fungus.

chainsaw culture cladophialophora bantiana cerebral abscess after chainsaw activity in an immunocompetent host illustrative case

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

Original title: “Chainsaw culture: Cladophialophora bantiana cerebral abscess after chainsaw activity in an immunocompetent host. Illustrative case.”

skeletal dysplasia livedoid vasculopathyResearch

A recent study identifies a combined phenotype of skeletal dysplasia and vasculopathy linked to an in-frame intragenic deletion in the PRKACA gene. This discovery enhances understanding of the genetic underpinnings of these rare conditions.

combined skeletal dysplasia and vasculopathy phenotypes associated with in frame intragenic deletion in prkaca

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

Original title: “Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.”

Research

A case report highlights the potential benefits of high-dose L-serine supplementation during febrile decompensation in patients with SARS1 deficiency. This study contributes to the understanding of therapeutic approaches for this rare condition.

high dose l serine supplementation during febrile decompensation in sars1 deficiency a case report and review of the literature

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

Original title: “High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature.”

childhood apraxia of speechResearch

A recent study published in PubMed highlights differences in non-word repetition, oral-motor performance, and auditory discrimination between children with childhood apraxia of speech and those with speech motor delay. These findings could inform targeted interventions for these distinct speech disorders.

differences in non word repetition oral motor performance and auditory discrimination in children with childhood apraxia of speech cas and speech motor delay smd

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

Original title: “Differences in non-word repetition, oral-motor performance and auditory discrimination in children with childhood apraxia of speech (CAS) and speech motor delay (SMD).”

eosinophilic granulomatosis with polyangiitisResearch

A recent study highlights the life-threatening onset of eosinophilic vasculitis affecting the aortic valve in patients with eosinophilic granulomatosis with polyangiitis (EGPA). This discovery underscores the need for heightened awareness and early intervention in such cases.

eosinophilic vasculitis of aortic valve in egpa a life threatening onset of disease

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

Original title: “Eosinophilic vasculitis of aortic valve in EGPA: a life-threatening onset of disease.”

pityriasis lichenoidesResearch

A retrospective cohort study investigates the epidemiological, clinical, and histopathological features of pediatric pityriasis lichenoides, providing valuable insights for long-term management. The findings contribute to the understanding of this rare skin condition in children.

epidemiological clinical and histopathological features of pediatric pityriasis lichenoides a retrospective cohort with long term follow up

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

Original title: “Epidemiological, Clinical, and Histopathological Features of Pediatric Pityriasis Lichenoides: A Retrospective Cohort With Long-Term Follow-Up.”

Research

A phase 1 trial of mavodelpar in patients with primary mitochondrial myopathy shows initial safety and tolerability. This study contributes to the understanding of treatment options for this rare condition.

mavodelpar in patients with primary mitochondrial myopathy a phase 1 trial

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

Original title: “Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial.”

Research

A recent study provides new insights into the phenotype and genotype of a newly identified PAN2-related disorder. This research enhances understanding of the genetic underpinnings and clinical presentation of this rare condition.

further delineation of the phenotype and genotype in a newly identified pan2 related disorder

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

Original title: “Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.”

Research

A systematic review highlights the current state and demographic trends of medically underserved populations in rare disease research in the United States. This study underscores the need for increased focus on these populations to ensure equitable access to research and treatment.

current state and demographic trends of medically underserved populations in rare disease research in the united states a systematic review

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

Original title: “Current state and demographic trends of medically underserved populations in rare disease research in the United States: a systematic review.”

Research

A retrospective cohort study in Switzerland highlights access challenges to orphan drugs for adults with inherited metabolic diseases. The findings underscore the need for improved strategies to enhance drug availability in this patient population.

access to orphan drugs in adults with inherited metabolic diseases in switzerland a single center retrospective cohort study

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

Original title: “Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.”

miliary tuberculosisResearch

A first case report details Mycobacterium abscessus presenting as miliary tuberculosis, expanding the understanding of this rare bacterial infection. This discovery may influence future diagnostic and treatment approaches for similar cases.

mycobacterium abscessus presenting as miliary tuberculosis first case report

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

Original title: “Mycobacterium Abscessus Presenting as Miliary Tuberculosis: First Case Report.”

extranodal nasal NK/T cell lymphomaResearch

A recent publication discusses the differential diagnosis of facial lesions, specifically focusing on extranodal NK/T-cell lymphoma in the nasal region. This research contributes to the understanding of rare lymphomas and their clinical presentation.

extranodal nk t cell lymphoma in the nasal region illustrating the differential diagnosis of lesions of the face

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

Original title: “Extranodal NK/T-Cell Lymphoma in the Nasal Region Illustrating the Differential Diagnosis of Lesions of the Face.”

oculogastrointestinal-neurodevelopmental syndrome otofacial neurodevelopmental syndrome+1 moreResearch

A recent author correction highlights that biallelic variants in the noncoding RNA gene RNU4-2 are linked to a recessive neurodevelopmental syndrome characterized by distinct white matter changes. This discovery adds to the understanding of genetic factors influencing neurodevelopmental disorders.

author correction biallelic variants in the noncoding rna gene rnu4 2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

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

Original title: “Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.”

Research

A paired case report highlights a novel variant in the TTPA gene associated with ataxia with vitamin E deficiency syndrome. This discovery may enhance understanding of the genetic underpinnings of this rare condition.

ataxia with vitamin e deficiency syndrome and a novel ttpa variant a paired case report

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

Original title: “Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.”

Research

A new study discusses the management of radial scars and complex sclerosing lesions of the breast, weighing the benefits of excision against observation. This research contributes to the ongoing debate in breast pathology regarding treatment approaches.

management of radial scars and complex sclerosing lesions of the breast to excise or not to excise

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

Original title: “Management of Radial Scars and Complex Sclerosing Lesions of the Breast: To Excise or Not to Excise?”

Previous299 / 487Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report highlights the occurrence of concomitant fibronectin glomerulopathy and chronic active antibody-mediated rejection in a renal allograft. This study contributes to the understanding of complex renal transplant complications.

A recent study highlights the combined occurrence of cardiovascular and bone events in individuals with kidney stone disease. This research may inform future investigations into the systemic effects of kidney stones on overall health.

A nationwide registry analysis reveals significant health inequities in older adults with type 1 diabetes, highlighting disparities in glycaemic control and complications. The study underscores the need for targeted interventions to address these inequities.

A case study highlights synchronous tumor-to-tumor metastasis of breast carcinoma to an intracranial meningioma. This rare occurrence underscores the complexity of metastatic pathways in cancer.

A new study reexamines the sphenoparietal sinus and its role in lesser sphenoid wing dural arteriovenous fistulas, providing illustrative cases that may influence future treatment approaches. This research could enhance understanding of vascular anomalies in the brain.

A case study highlights the occurrence of a cerebral abscess caused by Cladophialophora bantiana in an immunocompetent individual following chainsaw activity. This research underscores the potential risks associated with environmental exposure to this fungus.

A recent study identifies a combined phenotype of skeletal dysplasia and vasculopathy linked to an in-frame intragenic deletion in the PRKACA gene. This discovery enhances understanding of the genetic underpinnings of these rare conditions.

A case report highlights the potential benefits of high-dose L-serine supplementation during febrile decompensation in patients with SARS1 deficiency. This study contributes to the understanding of therapeutic approaches for this rare condition.

A recent study highlights the life-threatening onset of eosinophilic vasculitis affecting the aortic valve in patients with eosinophilic granulomatosis with polyangiitis (EGPA). This discovery underscores the need for heightened awareness and early intervention in such cases.

A retrospective cohort study investigates the epidemiological, clinical, and histopathological features of pediatric pityriasis lichenoides, providing valuable insights for long-term management. The findings contribute to the understanding of this rare skin condition in children.

A phase 1 trial of mavodelpar in patients with primary mitochondrial myopathy shows initial safety and tolerability. This study contributes to the understanding of treatment options for this rare condition.

A recent study provides new insights into the phenotype and genotype of a newly identified PAN2-related disorder. This research enhances understanding of the genetic underpinnings and clinical presentation of this rare condition.

A systematic review highlights the current state and demographic trends of medically underserved populations in rare disease research in the United States. This study underscores the need for increased focus on these populations to ensure equitable access to research and treatment.

A retrospective cohort study in Switzerland highlights access challenges to orphan drugs for adults with inherited metabolic diseases. The findings underscore the need for improved strategies to enhance drug availability in this patient population.

A first case report details Mycobacterium abscessus presenting as miliary tuberculosis, expanding the understanding of this rare bacterial infection. This discovery may influence future diagnostic and treatment approaches for similar cases.

A recent publication discusses the differential diagnosis of facial lesions, specifically focusing on extranodal NK/T-cell lymphoma in the nasal region. This research contributes to the understanding of rare lymphomas and their clinical presentation.

A recent author correction highlights that biallelic variants in the noncoding RNA gene RNU4-2 are linked to a recessive neurodevelopmental syndrome characterized by distinct white matter changes. This discovery adds to the understanding of genetic factors influencing neurodevelopmental disorders.

A paired case report highlights a novel variant in the TTPA gene associated with ataxia with vitamin E deficiency syndrome. This discovery may enhance understanding of the genetic underpinnings of this rare condition.

A new study discusses the management of radial scars and complex sclerosing lesions of the breast, weighing the benefits of excision against observation. This research contributes to the ongoing debate in breast pathology regarding treatment approaches.

Not rare diseases news,
news about your rare disease.