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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

A recent study explores the molecular mechanisms behind podophyllotoxin-induced subacute kidney injury, highlighting the role of oxidative stress in activating the TRPM2-NOD-NF-κB pathway. This research could inform future therapeutic strategies for managing kidney injuries related to podophyllotoxin.

molecular mechanisms of podophyllotoxin induced subacute kidney injury oxidative stress mediated activation of the trpm2 nod nf b pathway

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Molecular Mechanisms of Podophyllotoxin-Induced Subacute Kidney Injury: Oxidative Stress-Mediated Activation of the TRPM2-NOD-NF-κB Pathway.”

IgG4-related thyroid diseaseResearch

The North American Society for Interventional Thyroidology (NASIT) has released a statement regarding the use of embolization techniques for managing thyroid disease. This statement highlights emerging interventional approaches in thyroid care.

north american society for interventional thyroidology nasit statement on the use of embolization for the management of thyroid disease

PubMed Rare Disease·3 months ago·Read at source →

Original title: “North American Society for Interventional Thyroidology (NASIT) Statement on the use of Embolization for the Management of Thyroid Disease.”

cutaneous melanoma cancer of unknown primary siteResearch

A recent study published in PubMed highlights molecular alterations in patients of color with advanced cutaneous and unknown primary melanomas. This research could inform targeted therapies and improve outcomes for these underrepresented populations.

molecular alterations in patients of color with advanced cutaneous and unknown primary melanomas

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Molecular Alterations in Patients of Color with Advanced Cutaneous and Unknown Primary Melanomas.”

Research

A scoping review by the Particle Therapy Cooperative Group's Gynecologic Subcommittee evaluates the use of particle beam radiotherapy for gynecologic cancers. This expert opinion highlights emerging treatment modalities and their potential impact on patient outcomes.

particle beam radiotherapy for gynecologic cancers a scoping review and expert opinion by the particle therapy cooperative group gynecologic subcommittee

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Particle Beam Radiotherapy for Gynecologic Cancers: A Scoping Review and Expert Opinion by the Particle Therapy Cooperative Group - Gynecologic Subcommittee.”

amyotrophic lateral sclerosisResearch

A population-based study from Isfahan, Iran, investigates the incidence and clinical characteristics of amyotrophic lateral sclerosis (ALS) during the post-COVID-19 period. The findings contribute to understanding the potential impacts of COVID-19 on ALS incidence.

incidence and clinical characteristics of amyotrophic lateral sclerosis during the post covid 19 period a population based study from isfahan iran

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Incidence and clinical characteristics of amyotrophic lateral sclerosis during the post-COVID-19 Period: a population-based study from Isfahan, Iran.”

cancer esophageal cancerResearch

A new study explores the role of clonal ecology and genomic instability in predicting lymph node metastasis in cancer. The research highlights the transition from polyclonal to monoclonal populations as a critical factor in understanding cancer progression.

beyond morphology reframing lymph node metastasis prediction through clonal ecology decades long genomic instability and polyclonal to monoclonal transitions as the missing dimension in cancer

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Beyond Morphology: Reframing Lymph-Node Metastasis Prediction Through Clonal Ecology-Decades-Long Genomic Instability and Polyclonal-to-Monoclonal Transitions as the Missing Dimension in Cancer.”

insulin autoimmune syndromeResearch

Recent research highlights alpha-lipoic acid as a potential trigger for insulin autoimmune syndrome, emphasizing the need for awareness of diagnostic pitfalls. The study provides a case-based approach to practical management of this condition.

alpha lipoic acid as a trigger of insulin autoimmune syndrome current evidence a case based approach diagnostic pitfalls and practical management

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Alpha-lipoic acid as a trigger of insulin autoimmune syndrome: Current evidence, a case-based approach, diagnostic pitfalls, and practical management.”

microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II+1 moreResearch

A study published in PubMed details the prenatal phenotypic features of five fetal cases associated with RNU4ATAC mutations leading to microcephalic osteodysplastic primordial dwarfism type I. This research enhances understanding of the condition's prenatal presentation.

prenatal phenotypic features of five fetal cases with rnu4atac associated microcephalic osteodysplastic primordial dwarfism type i

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.”

tuberculous fibrosis of lungResearch

A corrigendum has been issued for the study on fluvoxamine's effects on bleomycin-induced lung fibrosis, highlighting its role in regulating the cGAS-STING pathway. This research contributes to understanding potential therapeutic approaches for lung fibrosis.

corrigendum to fluvoxamine alleviates bleomycin induced lung fibrosis via regulating the cgas sting pathway pharmacol res 187 2023 106577

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Corrigendum to "Fluvoxamine alleviates bleomycin-induced lung fibrosis via regulating the cGAS-STING pathway" [Pharmacol. Res. 187 (2023) 106577].”

Research

A multicenter study provides new insights into the clinicopathological characteristics and prognosis of cholangiolocarcinoma. The findings may enhance understanding and management of this rare cancer type.

clinicopathological characteristics and prognosis of cholangiolocarcinoma a multicenter study with a central pathology review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “The Clinicopathological Characteristics and Prognosis of Cholangiolocarcinoma: A Multicenter Study With a Central Pathology Review.”

Research

A cohort study titled ODYSSEY explores the diagnostic yield from scan findings before sequencing was introduced. This research may enhance understanding of diagnostic processes in rare diseases.

obtaining a diagnostic yield via scan findings prior to the introduction of sequencing retrospectively odyssey a cohort study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.”

Research

A new study emphasizes the need for coordinated and structured care in precision medicine for patients with rare genetic obesity. This research highlights the complexities of managing these conditions and the importance of tailored treatment approaches.

precision medicine in patients with rare forms of genetic obesity necessity for coordinated and structured care

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.”

Research

Recent research demonstrates that Mr BMT can achieve systemic macrophage replacement while maintaining tissue homeostasis. This breakthrough could have implications for therapies targeting macrophage-related diseases.

mr bmt achieves systemic macrophage replacement with preservation of tissue homeostasis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Mr BMT Achieves Systemic Macrophage Replacement With Preservation of Tissue Homeostasis.”

gastric cancer hereditary gastric cancer+1 moreResearch

A case report highlights the underestimation of subserosal invasion in early gastric cancer resembling advanced gastric carcinoma with focal enteroblastic differentiation. This finding may impact diagnostic approaches and treatment strategies for gastric cancer.

underestimation of subserosal invasion in early gastric cancer like advanced gastric carcinoma with focal enteroblastic differentiation a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Underestimation of Subserosal Invasion in Early Gastric Cancer-Like Advanced Gastric Carcinoma With Focal Enteroblastic Differentiation: A Case Report.”

Research

A rare case study highlights the recurrence of Takotsubo cardiomyopathy with alternate reverse phenotypes, contributing to the understanding of this condition's variability. This research may inform future clinical approaches to managing Takotsubo cardiomyopathy.

rare case of takotsubo cardiomyopathy recurrence with alternate reverse phenotypes

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Rare Case of Takotsubo Cardiomyopathy Recurrence With Alternate Reverse Phenotypes.”

maxillary arteriovenous malformation arteriovenous malformations of the brain+1 moreResearch

A study from the Hospital for Sick Children evaluates surgical outcomes for children undergoing resection of intracranial nidal arteriovenous malformations. The findings contribute to understanding the effectiveness of surgical interventions in this rare condition.

surgical outcomes after intracranial nidal arteriovenous malformation resection in children the hospital for sick children experience

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Surgical outcomes after intracranial nidal arteriovenous malformation resection in children: the Hospital for Sick Children experience.”

breast cancerResearch

A sub-study of the DBCG Proton Trial compares acute radiation side effects of proton and photon therapy in early breast cancer patients post-surgery. The findings contribute to understanding treatment impacts on patient quality of life.

acute radiation side effects of proton versus photon therapy following surgery for early breast cancer a sub study of the randomised controlled dbcg proton trial

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Acute radiation side effects of proton versus photon therapy following surgery for early breast cancer, a sub-study of the randomised controlled DBCG Proton Trial.”

volvulus of midgutResearch

A recent study published in PubMed explores genetic sequencing in children with malrotation and midgut volvulus, providing insights into potential genetic factors associated with these conditions. This cross-sectional study may pave the way for future research into targeted therapies.

genetic sequencing of children with malrotation and midgut volvulus a cross sectional study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Genetic sequencing of children with malrotation and midgut volvulus: A cross-sectional study.”

X-linked myotubular myopathy X-linked myotubular myopathy-abnormal genitalia syndrome+1 moreResearch

The Unite-CNM study provides clinical, histopathological, and biomarker characterization for X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM). This research offers operational lessons and baseline data crucial for future studies in these rare diseases.

clinical histopathological and biomarker characterization of xlmtm and adcnm operational lessons screening and baseline data of the unite cnm study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.”

Research

A new study discusses the potential of multimodal and fair artificial intelligence in pediatric rheumatology, highlighting challenges and opportunities for equitable healthcare solutions. This research aims to improve patient outcomes through innovative AI applications.

multimodal and fair artificial intelligence in paediatric rheumatology challenges and opportunities for a holistic and equitable future

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Multimodal and fair artificial intelligence in paediatric rheumatology: challenges and opportunities for a holistic and equitable future.”

Previous162 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

The North American Society for Interventional Thyroidology (NASIT) has released a statement regarding the use of embolization techniques for managing thyroid disease. This statement highlights emerging interventional approaches in thyroid care.

A recent study published in PubMed highlights molecular alterations in patients of color with advanced cutaneous and unknown primary melanomas. This research could inform targeted therapies and improve outcomes for these underrepresented populations.

A scoping review by the Particle Therapy Cooperative Group's Gynecologic Subcommittee evaluates the use of particle beam radiotherapy for gynecologic cancers. This expert opinion highlights emerging treatment modalities and their potential impact on patient outcomes.

A population-based study from Isfahan, Iran, investigates the incidence and clinical characteristics of amyotrophic lateral sclerosis (ALS) during the post-COVID-19 period. The findings contribute to understanding the potential impacts of COVID-19 on ALS incidence.

A new study explores the role of clonal ecology and genomic instability in predicting lymph node metastasis in cancer. The research highlights the transition from polyclonal to monoclonal populations as a critical factor in understanding cancer progression.

Recent research highlights alpha-lipoic acid as a potential trigger for insulin autoimmune syndrome, emphasizing the need for awareness of diagnostic pitfalls. The study provides a case-based approach to practical management of this condition.

A study published in PubMed details the prenatal phenotypic features of five fetal cases associated with RNU4ATAC mutations leading to microcephalic osteodysplastic primordial dwarfism type I. This research enhances understanding of the condition's prenatal presentation.

A corrigendum has been issued for the study on fluvoxamine's effects on bleomycin-induced lung fibrosis, highlighting its role in regulating the cGAS-STING pathway. This research contributes to understanding potential therapeutic approaches for lung fibrosis.

A multicenter study provides new insights into the clinicopathological characteristics and prognosis of cholangiolocarcinoma. The findings may enhance understanding and management of this rare cancer type.

A cohort study titled ODYSSEY explores the diagnostic yield from scan findings before sequencing was introduced. This research may enhance understanding of diagnostic processes in rare diseases.

A new study emphasizes the need for coordinated and structured care in precision medicine for patients with rare genetic obesity. This research highlights the complexities of managing these conditions and the importance of tailored treatment approaches.

Recent research demonstrates that Mr BMT can achieve systemic macrophage replacement while maintaining tissue homeostasis. This breakthrough could have implications for therapies targeting macrophage-related diseases.

A case report highlights the underestimation of subserosal invasion in early gastric cancer resembling advanced gastric carcinoma with focal enteroblastic differentiation. This finding may impact diagnostic approaches and treatment strategies for gastric cancer.

A rare case study highlights the recurrence of Takotsubo cardiomyopathy with alternate reverse phenotypes, contributing to the understanding of this condition's variability. This research may inform future clinical approaches to managing Takotsubo cardiomyopathy.

A study from the Hospital for Sick Children evaluates surgical outcomes for children undergoing resection of intracranial nidal arteriovenous malformations. The findings contribute to understanding the effectiveness of surgical interventions in this rare condition.

A sub-study of the DBCG Proton Trial compares acute radiation side effects of proton and photon therapy in early breast cancer patients post-surgery. The findings contribute to understanding treatment impacts on patient quality of life.

A recent study published in PubMed explores genetic sequencing in children with malrotation and midgut volvulus, providing insights into potential genetic factors associated with these conditions. This cross-sectional study may pave the way for future research into targeted therapies.

The Unite-CNM study provides clinical, histopathological, and biomarker characterization for X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM). This research offers operational lessons and baseline data crucial for future studies in these rare diseases.

A new study discusses the potential of multimodal and fair artificial intelligence in pediatric rheumatology, highlighting challenges and opportunities for equitable healthcare solutions. This research aims to improve patient outcomes through innovative AI applications.

Not rare diseases news,
news about your rare disease.