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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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autosomal dominant polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney disease+1 moreResearch

A case study highlights extensive parenchymal brain calcification in a patient with autosomal dominant polycystic kidney disease and stage 5 chronic kidney disease. This research contributes to understanding the neurological implications of these conditions.

extensive parenchymal brain calcification in a patient with autosomal dominant polycystic kidney disease and stage 5 chronic kidney disease

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Extensive Parenchymal Brain Calcification in a Patient With Autosomal Dominant Polycystic Kidney Disease and Stage 5 Chronic Kidney Disease.”

Research

A case review highlights the clinical presentation and management of late-onset Pompe disease in a 52-year-old male. This study contributes to the understanding of the disease's progression and treatment options.

of pompe and circumstance a case review of late onset pompe disease in a 52 year old male

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Of Pompe and Circumstance: A Case Review of Late Onset Pompe Disease in a 52-Year-Old Male.”

Research

A new study presents a phenome-wide structural variant map derived from 467,152 genomes in the UK Biobank. This research enhances understanding of genetic variations and their implications for various diseases.

phenome wide structural variant map from 467 152 uk biobank genomes

PubMed Rare Disease·20 days ago·Read at source →

Original title: “A phenome-wide structural variant map from 467,152 UK Biobank genomes.”

heart failure congestive heart failure+1 moreResearch

A recent study published in PubMed examines the clinical presentation, management strategies, and outcomes for patients with heart failure. The findings provide insights into effective treatment approaches and patient responses.

clinical presentation management and outcome of heart failure patients

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Clinical Presentation, Management and Outcome of Heart Failure Patients.”

cysticercosisResearch

A recent publication synthesizes evidence on spinal neurocysticercosis, detailing clinical presentations, anatomical patterns, diagnostic approaches, and therapeutic strategies. This comprehensive review aims to enhance understanding and management of this rare condition.

spinal neurocysticercosis synthesizing evidence on clinical presentations anatomical patterns diagnostic approaches and therapeutic strategies

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Spinal neurocysticercosis: synthesizing evidence on clinical presentations, anatomical patterns, diagnostic approaches, and therapeutic strategies.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A recent EUSTAR analysis investigates treatment strategies and outcomes for systemic sclerosis-associated pulmonary arterial hypertension, focusing on different haemodynamic thresholds and risk stratification. This study provides insights that could inform clinical decision-making in managing this complex condition.

initial treatment strategies and outcomes across haemodynamic thresholds and risk stratification in incident systemic sclerosis associated pulmonary arterial hypertension a eustar analysis

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Initial treatment strategies and outcomes across haemodynamic thresholds and risk stratification in incident systemic sclerosis-associated pulmonary arterial hypertension: a EUSTAR analysis.”

respiratory syncytial virus infectious diseaseResearch

A systematic review highlights ethnic inequities in mathematical models for respiratory infectious diseases, emphasizing the need for more inclusive research methodologies. This study could inform future research and public health strategies.

ethnic inequities in mathematical models for respiratory infectious disease a systematic review

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Ethnic inequities in mathematical models for respiratory infectious disease: A systematic review.”

alveolar echinococcosisResearch

A recent study investigates the relationship between HLA profiles and susceptibility to alveolar echinococcosis using a large cohort. The findings contribute to understanding genetic factors influencing the disease.

hla profiles and susceptibility to alveolar echinococcosis evidence from a large cohort with population and household controls

PubMed Rare Disease·20 days ago·Read at source →

Original title: “HLA profiles and susceptibility to Alveolar echinococcosis: evidence from a large cohort with population and household controls.”

Research

A recent study published in PubMed highlights the diagnostic utility of diurnal salivary cortisol profiles in distinguishing between neoplastic and non-neoplastic hypercortisolism. This research could enhance diagnostic accuracy for conditions related to cortisol dysregulation.

diagnostic utility of diurnal salivary cortisol profiles in neoplastic and non neoplastic hypercortisolism

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Diagnostic Utility of Diurnal Salivary Cortisol Profiles in Neoplastic and Non-Neoplastic Hypercortisolism.”

Research

A systematic review and meta-analysis has been conducted on treatment approaches and clinical outcomes for epididymal cysts in children. This research provides insights into effective management strategies for this condition.

epididymal cysts in children a systematic review and meta analysis of treatment approaches and clinical outcomes

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Epididymal cysts in children: a systematic review and meta-analysis of treatment approaches and clinical outcomes.”

post-transplant lymphoproliferative diseaseResearch

A recent study explores post-transplant lymphoproliferative disorder (PTLD) occurring after successful treatment of graft-versus-host disease (GVHD) in liver transplant patients. This research highlights the complexities of managing complications in transplant recipients.

post transplant lymphoproliferative disorder after successful treatment of graft versus host disease following liver transplantation

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Post-Transplant Lymphoproliferative Disorder After Successful Treatment of Graft-Versus Host Disease Following Liver Transplantation.”

cervical artery dissection familial cervical artery dissectionResearch

A recent study provides genomic, clinical, and radiological insights into spontaneous cervical artery dissections, enhancing understanding of this rare condition. Findings from a single-center cohort may inform future research and clinical approaches.

genomic clinical and radiological characterization of spontaneous cervical artery dissections findings from a single center cohort

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Genomic, clinical, and radiological characterization of spontaneous cervical artery dissections: Findings from a single-center cohort.”

celiac disease celiac disease-epilepsy-cerebral calcification syndrome+1 moreResearch

A recent case report highlights the connection between anemia and celiac disease, emphasizing the need for thorough investigation in patients presenting with anemia. This finding could lead to improved diagnosis and management of celiac disease.

more than just anemia uncovering celiac disease beneath the surface a case report

PubMed Rare Disease·20 days ago·Read at source →

Original title: “More than just anemia: Uncovering celiac disease beneath the surface: A case report.”

bone sarcoma sarcoma+1 moreResearch

A recent study published in PubMed examines the epidemiology, management, and outcomes of pediatric bone and soft tissue sarcomas in Ireland. The findings contribute to understanding treatment efficacy and patient outcomes in this rare disease population.

paediatric bone and soft tissue sarcomas in ireland epidemiology management and outcomes

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Paediatric bone and soft-tissue sarcomas in Ireland: Epidemiology, management and outcomes.”

megaesophagus toxocariasisResearch

A recent study published in PubMed discusses a case of generalized megaesophagus occurring concurrently with toxocariasis in a cat. This research highlights the potential complexities of diagnosing and treating concurrent conditions in veterinary medicine.

generalized megaesophagus concurrent with toxocariasis in a cat

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Generalized Megaesophagus Concurrent With Toxocariasis in a Cat.”

chronic myelomonocytic leukemia juvenile myelomonocytic leukemia+1 moreResearch

The Groupe Francophone des Myélodysplasies has released new recommendations for the diagnostic approach and management of myelodysplastic syndromes, chronic myelomonocytic leukemias, and VEXAS syndrome. These guidelines aim to improve clinical outcomes and standardize treatment protocols.

recommendations of the groupe francophone des my lodysplasies gfm diagnostic approach and management of myelodysplastic syndromes chronic myelomonocytic leukemias and vexas syndrome

PubMed Rare Disease·20 days ago·Read at source →

Original title: “[Recommendations of the Groupe Francophone des Myélodysplasies (GFM) - Diagnostic approach and management of myelodysplastic syndromes, chronic myelomonocytic leukemias, and VEXAS syndrome].”

autoimmune hepatitisResearch

The CAMARO trial provides a 3-year follow-up comparing azathioprine and mycophenolate mofetil in treatment-naive autoimmune hepatitis patients. This study contributes valuable insights into the long-term efficacy of these treatments.

azathioprine versus mycophenolate mofetil in treatment naive autoimmune hepatitis 3 year follow up of the camaro trial

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Azathioprine versus mycophenolate mofetil in treatment-naive autoimmune hepatitis: 3-year follow-up of the CAMARO-trial.”

Research

A new case series published on PubMed highlights vulvar mastocytosis in children and adolescents, providing insights into its clinical presentation and management. This research contributes to the understanding of a rare condition affecting the pediatric population.

vulvar mastocytosis in children and adolescents a case series

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Vulvar Mastocytosis in Children and Adolescents: A Case Series.”

melanomaResearch

Research reveals that lymphangiogenesis driven by VEGF-C alters the immune landscape of tumors, facilitating tumor eradication through viral immunotherapy in mouse melanoma models. This study highlights the potential of targeting lymphatic pathways in cancer treatment.

lymphangiogenesis driven by vegf c reshapes tumor immune landscape and enables tumor eradication by viral immunotherapy in mouse melanoma models

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Lymphangiogenesis driven by VEGF-C reshapes tumor immune landscape and enables tumor eradication by viral immunotherapy in mouse melanoma models.”

Research

A systematic overview has been conducted to define childhood visual impairment, synthesizing insights from clinical, research, and policy contexts. This comprehensive review aims to clarify the terminology and implications for stakeholders in the field.

definition of childhood visual impairment a systematic overview of reviews and authoritative sources across clinical research and policy contexts

PubMed Rare Disease·20 days ago·Read at source →

Original title: “Definition of childhood visual impairment: A systematic overview of reviews and authoritative sources across clinical, research, and policy contexts.”

Previous34 / 480Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case study highlights extensive parenchymal brain calcification in a patient with autosomal dominant polycystic kidney disease and stage 5 chronic kidney disease. This research contributes to understanding the neurological implications of these conditions.

A case review highlights the clinical presentation and management of late-onset Pompe disease in a 52-year-old male. This study contributes to the understanding of the disease's progression and treatment options.

A new study presents a phenome-wide structural variant map derived from 467,152 genomes in the UK Biobank. This research enhances understanding of genetic variations and their implications for various diseases.

A recent study published in PubMed examines the clinical presentation, management strategies, and outcomes for patients with heart failure. The findings provide insights into effective treatment approaches and patient responses.

A recent publication synthesizes evidence on spinal neurocysticercosis, detailing clinical presentations, anatomical patterns, diagnostic approaches, and therapeutic strategies. This comprehensive review aims to enhance understanding and management of this rare condition.

A systematic review highlights ethnic inequities in mathematical models for respiratory infectious diseases, emphasizing the need for more inclusive research methodologies. This study could inform future research and public health strategies.

A recent study investigates the relationship between HLA profiles and susceptibility to alveolar echinococcosis using a large cohort. The findings contribute to understanding genetic factors influencing the disease.

A recent study published in PubMed highlights the diagnostic utility of diurnal salivary cortisol profiles in distinguishing between neoplastic and non-neoplastic hypercortisolism. This research could enhance diagnostic accuracy for conditions related to cortisol dysregulation.

A systematic review and meta-analysis has been conducted on treatment approaches and clinical outcomes for epididymal cysts in children. This research provides insights into effective management strategies for this condition.

A recent study explores post-transplant lymphoproliferative disorder (PTLD) occurring after successful treatment of graft-versus-host disease (GVHD) in liver transplant patients. This research highlights the complexities of managing complications in transplant recipients.

A recent study provides genomic, clinical, and radiological insights into spontaneous cervical artery dissections, enhancing understanding of this rare condition. Findings from a single-center cohort may inform future research and clinical approaches.

A recent case report highlights the connection between anemia and celiac disease, emphasizing the need for thorough investigation in patients presenting with anemia. This finding could lead to improved diagnosis and management of celiac disease.

A recent study published in PubMed examines the epidemiology, management, and outcomes of pediatric bone and soft tissue sarcomas in Ireland. The findings contribute to understanding treatment efficacy and patient outcomes in this rare disease population.

A recent study published in PubMed discusses a case of generalized megaesophagus occurring concurrently with toxocariasis in a cat. This research highlights the potential complexities of diagnosing and treating concurrent conditions in veterinary medicine.

The Groupe Francophone des Myélodysplasies has released new recommendations for the diagnostic approach and management of myelodysplastic syndromes, chronic myelomonocytic leukemias, and VEXAS syndrome. These guidelines aim to improve clinical outcomes and standardize treatment protocols.

The CAMARO trial provides a 3-year follow-up comparing azathioprine and mycophenolate mofetil in treatment-naive autoimmune hepatitis patients. This study contributes valuable insights into the long-term efficacy of these treatments.

A new case series published on PubMed highlights vulvar mastocytosis in children and adolescents, providing insights into its clinical presentation and management. This research contributes to the understanding of a rare condition affecting the pediatric population.

Research reveals that lymphangiogenesis driven by VEGF-C alters the immune landscape of tumors, facilitating tumor eradication through viral immunotherapy in mouse melanoma models. This study highlights the potential of targeting lymphatic pathways in cancer treatment.

A systematic overview has been conducted to define childhood visual impairment, synthesizing insights from clinical, research, and policy contexts. This comprehensive review aims to clarify the terminology and implications for stakeholders in the field.

Not rare diseases news,
news about your rare disease.