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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

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Research

The SPIRIT-C 2026 extension statement aims to improve the reporting and utility of pediatric randomized trial protocols. This initiative focuses on enhancing transparency and quality in clinical research involving children and adolescents.

spirit children and adolescents spirit c 2026 extension statement enhancing the reporting and usefulness of paediatric randomised trial protocols

PubMed Rare Disease·9 months ago·Read at source →

Original title: “SPIRIT-Children and Adolescents (SPIRIT-C) 2026 extension statement: enhancing the reporting and usefulness of paediatric randomised trial protocols.”

cardiac sarcoidosis sarcoidosisResearch

A recent study highlights significant diagnostic delays and phenotypic variations in cardiac sarcoidosis, emphasizing the need for improved diagnostic protocols. The findings could inform future research and clinical practices in managing this rare condition.

diagnostic delay and phenotypic differences in cardiac sarcoidosis a descriptive study of diagnostic and follow up clinical data

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Diagnostic delay and phenotypic differences in cardiac sarcoidosis: a descriptive study of diagnostic and follow-up clinical data.”

light chain deposition diseaseResearch

A recent study published in PubMed examines the prevalence and prognostic significance of restriction versus systolic dysfunction in patients with transthyretin and light chain cardiac amyloidosis. The findings contribute to understanding the clinical implications of these dysfunctions in amyloidosis patients.

prevalence and prognostic significance of restriction versus systolic dysfunction in patients with transthyretin and light chain cardiac amyloidosis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Prevalence and Prognostic Significance of Restriction Versus Systolic Dysfunction in Patients With Transthyretin and Light Chain Cardiac Amyloidosis.”

Research

A new study introduces metabolic isotopic labeling of deoxy ribose, enhancing the ability to profile nucleic acid modifications through dual neutral loss scanning. This technique could advance research in understanding genetic variations and their implications in rare diseases.

metabolic isotopic labeling of deoxy ribose enables dual neutral loss scanning for profiling nucleic acid modifications

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Metabolic isotopic labeling of (deoxy)ribose enables dual neutral loss scanning for profiling nucleic acid modifications.”

Research

A recent study highlights that a painless nodule on the lip may indicate underlying rare diseases. This finding emphasizes the need for further research into the diagnostic implications of such symptoms.

painless nodule on lip reflects rare diseases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Painless Nodule on Lip Reflects Rare Diseases.”

fibrous dysplasia polyostotic fibrous dysplasia+1 moreResearch

A preclinical study investigates the effects of anti-RANKL and Zoledronate therapies in a mouse model of fibrous dysplasia. The findings contribute to understanding potential treatment strategies for this rare bone disorder.

effects of anti rankl zoledronate or combination therapy in a mouse model of fibrous dysplasia a preclinical study

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Effects of anti-RANKL, Zoledronate or combination therapy in a mouse model of fibrous dysplasia: a preclinical study.”

atrial septal defect, sinus venosus type atrial septal defectResearch

A case report details a rare instance of sinus venosus atrial septal defect with partial anomalous pulmonary and hepatic venous drainage. This study contributes to the understanding of complex cardiac anomalies.

sinus venosus atrial septal defect with partial anomalous pulmonary and hepatic venous drainage a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Sinus venosus atrial septal defect with partial anomalous pulmonary and hepatic venous drainage: a case report.”

cholangiocarcinoma hilar cholangiocarcinomaResearch

Recent research highlights the therapeutic potential of fibroblast growth factor receptor (FGFR) inhibitors in treating cholangiocarcinoma. The study identifies key developments and existing knowledge gaps in this area, emphasizing the need for further exploration.

fibroblast growth factor receptor fgfr inhibitors for the treatment of cholangiocarcinoma key therapeutic developments and knowledge gaps

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Fibroblast Growth Factor Receptor (FGFR) Inhibitors for the Treatment of Cholangiocarcinoma: Key Therapeutic Developments and Knowledge Gaps.”

Research

A recent study investigates the role of IgE antibodies to Galactose-α-1,3-Galactose (α-Gal) in first-dose infusion reactions to Ustekinumab. This research could inform future patient management strategies regarding allergenicity associated with this treatment.

ige to galactose 1 3 galactose gal and relevance to ustekinumab first dose infusion reactions and allergenicity

PubMed Rare Disease·9 months ago·Read at source →

Original title: “IgE to Galactose-α-1,3-Galactose (α-Gal) and Relevance to Ustekinumab First-Dose Infusion Reactions and Allergenicity.”

Stevens-Johnson syndrome toxic epidermal necrolysisResearch

A 10-year retrospective cohort study at the Royal Brisbane and Women's Hospital provides new insights into Stevens-Johnson syndrome and toxic epidermal necrolysis. The findings may enhance understanding and management of these severe skin conditions.

10 year retrospective cohort study of stevens johnson syndrome and toxic epidermal necrolysis at the royal brisbane and women s hospital

PubMed Rare Disease·9 months ago·Read at source →

Original title: “A 10-Year Retrospective Cohort Study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis at the Royal Brisbane and Women's Hospital.”

Research

A recent overview highlights the efficacy and safety of Inotuzumab Ozogamicin in clinical practice, emphasizing its real-world applications for patients. This analysis provides insights into treatment outcomes and safety profiles, contributing to the understanding of this therapy's role in managing specific hematologic malignancies.

inotuzumab ozogamicin in clinical practice an overview of efficacy safety and real world applications

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Inotuzumab Ozogamicin in Clinical Practice: an Overview of Efficacy, Safety, and Real-World Applications.”

chronic inflammatory demyelinating polyradiculoneuropathyResearch

The CMP-MYTHiC study investigates the use of colchicine in patients with chronic inflammatory cardiomyopathy. This research aims to provide insights into the therapeutic potential of colchicine for this rare condition.

colchicine in patients with chronic inflammatory cardiomyopathy rationale and design of the cmp mythic

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Colchicine in patients with chronic inflammatory cardiomyopathy: Rationale and design of the CMP-MYTHiC.”

infective endocarditis pregnancy disorderResearch

A case report highlights the diagnostic potential of metagenomic sequencing in identifying Granulicatella adiacens as the causative agent of infective endocarditis during pregnancy. This study contributes to understanding rare infections in pregnant patients.

granulicatella adiacens infective endocarditis in pregnancy diagnostic contribution of metagenomic sequencing a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Granulicatella adiacens infective endocarditis in pregnancy: diagnostic contribution of metagenomic sequencing-a case report.”

ocular surface squamous neoplasiaResearch

A new deep learning-based diagnostic model has been developed for ocular surface neoplastic diseases, potentially improving early detection and treatment outcomes. This research highlights advancements in AI applications within rare disease diagnostics.

deep learning based diagnostic model for ocular surface neoplastic diseases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Deep learning-based diagnostic model for ocular surface neoplastic diseases.”

ectopic ACTH secretion syndrome ectopic Cushing syndromeResearch

A rare case study highlights ectopic Cushing's syndrome resulting from a renal neuroendocrine tumor. This discovery adds to the understanding of the tumor's impact on hormone regulation.

rare case of ectopic cushing s syndrome caused by renal neuroendocrine tumor

PubMed Rare Disease·9 months ago·Read at source →

Original title: “A rare case of ectopic cushing's syndrome caused by renal neuroendocrine tumor.”

antisynthetase syndromeResearch

A recent study highlights the diagnostic challenges of antisynthetase syndrome, which can mimic pulmonary infections. This research underscores the need for heightened awareness among healthcare providers to improve diagnosis and treatment.

antisynthetase syndrome mimicking pulmonary infection a diagnostic lesson from county managed hospital

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Antisynthetase Syndrome Mimicking Pulmonary Infection: A Diagnostic Lesson From County-Managed Hospital.”

A systematic literature review and meta-analysis reveals critical insights into the incidence and prevalence of progressive pulmonary fibrosis (PPF). This research provides a comprehensive overview that can inform future studies and treatment approaches.

incidence and prevalence of progressive pulmonary fibrosis ppf a systematic literature review and meta analysis

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Incidence and Prevalence of Progressive Pulmonary Fibrosis (PPF): A Systematic Literature Review and Meta-analysis.”

Research

The SPIRIT-C 2026 guidelines aim to improve the reporting and utility of pediatric randomized trial protocols. These recommendations are crucial for enhancing the quality of clinical research in rare pediatric diseases.

spirit c 2026 explanation and elaboration recommendations for enhancing the reporting and usefulness of paediatric randomised trial protocols

PubMed Rare Disease·9 months ago·Read at source →

Original title: “SPIRIT-C 2026 explanation and elaboration: recommendations for enhancing the reporting and usefulness of paediatric randomised trial protocols.”

HIV-associated nephropathy HIV wasting syndrome+1 moreResearch

New research highlights dynamic antigen expression and cytotoxic T cell resistance in HIV reservoir clones, providing insights into the challenges of eradicating HIV. Understanding these mechanisms could inform future therapeutic strategies.

dynamic antigen expression and cytotoxic t cell resistance in hiv reservoir clones

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Dynamic antigen expression and cytotoxic T cell resistance in HIV reservoir clones.”

Research

Process characterization is essential for ensuring the consistency, safety, and scalability of cell therapies. This article discusses the critical role of process characterization in advancing cell therapy development.

Why process characterization is the key to consistent, safe, and scalable cell therapies.

BioPharma Dive·9 months ago·Read at source →

Original title: “All about cell therapy process characterization”

Previous440 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

The SPIRIT-C 2026 extension statement aims to improve the reporting and utility of pediatric randomized trial protocols. This initiative focuses on enhancing transparency and quality in clinical research involving children and adolescents.

A recent study highlights significant diagnostic delays and phenotypic variations in cardiac sarcoidosis, emphasizing the need for improved diagnostic protocols. The findings could inform future research and clinical practices in managing this rare condition.

A new study introduces metabolic isotopic labeling of deoxy ribose, enhancing the ability to profile nucleic acid modifications through dual neutral loss scanning. This technique could advance research in understanding genetic variations and their implications in rare diseases.

A recent study highlights that a painless nodule on the lip may indicate underlying rare diseases. This finding emphasizes the need for further research into the diagnostic implications of such symptoms.

A preclinical study investigates the effects of anti-RANKL and Zoledronate therapies in a mouse model of fibrous dysplasia. The findings contribute to understanding potential treatment strategies for this rare bone disorder.

A case report details a rare instance of sinus venosus atrial septal defect with partial anomalous pulmonary and hepatic venous drainage. This study contributes to the understanding of complex cardiac anomalies.

Recent research highlights the therapeutic potential of fibroblast growth factor receptor (FGFR) inhibitors in treating cholangiocarcinoma. The study identifies key developments and existing knowledge gaps in this area, emphasizing the need for further exploration.

A recent study investigates the role of IgE antibodies to Galactose-α-1,3-Galactose (α-Gal) in first-dose infusion reactions to Ustekinumab. This research could inform future patient management strategies regarding allergenicity associated with this treatment.

A 10-year retrospective cohort study at the Royal Brisbane and Women's Hospital provides new insights into Stevens-Johnson syndrome and toxic epidermal necrolysis. The findings may enhance understanding and management of these severe skin conditions.

The CMP-MYTHiC study investigates the use of colchicine in patients with chronic inflammatory cardiomyopathy. This research aims to provide insights into the therapeutic potential of colchicine for this rare condition.

A case report highlights the diagnostic potential of metagenomic sequencing in identifying Granulicatella adiacens as the causative agent of infective endocarditis during pregnancy. This study contributes to understanding rare infections in pregnant patients.

A new deep learning-based diagnostic model has been developed for ocular surface neoplastic diseases, potentially improving early detection and treatment outcomes. This research highlights advancements in AI applications within rare disease diagnostics.

A rare case study highlights ectopic Cushing's syndrome resulting from a renal neuroendocrine tumor. This discovery adds to the understanding of the tumor's impact on hormone regulation.

A recent study highlights the diagnostic challenges of antisynthetase syndrome, which can mimic pulmonary infections. This research underscores the need for heightened awareness among healthcare providers to improve diagnosis and treatment.

A systematic literature review and meta-analysis reveals critical insights into the incidence and prevalence of progressive pulmonary fibrosis (PPF). This research provides a comprehensive overview that can inform future studies and treatment approaches.

The SPIRIT-C 2026 guidelines aim to improve the reporting and utility of pediatric randomized trial protocols. These recommendations are crucial for enhancing the quality of clinical research in rare pediatric diseases.

New research highlights dynamic antigen expression and cytotoxic T cell resistance in HIV reservoir clones, providing insights into the challenges of eradicating HIV. Understanding these mechanisms could inform future therapeutic strategies.

Process characterization is essential for ensuring the consistency, safety, and scalability of cell therapies. This article discusses the critical role of process characterization in advancing cell therapy development.

Not rare diseases news,
news about your rare disease.