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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

A recent study published in PubMed highlights the use of fresh frozen plasma as a functional replacement therapy for early infantile ApoC-II deficiency. This case series provides molecular confirmation of the therapy's effectiveness in managing this rare condition.

fresh frozen plasma as functional replacement therapy in early infantile apoc ii deficiency a molecularly confirmed case series

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

Original title: “Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A case study highlights rituximab-associated colitis leading to colonic perforation in a patient with systemic sclerosis, necessitating subtotal colectomy. This finding underscores the potential severe gastrointestinal complications associated with rituximab treatment in systemic sclerosis patients.

rituximab associated colitis with colonic perforation requiring subtotal colectomy in systemic sclerosis

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

Original title: “Rituximab-associated colitis with colonic perforation requiring subtotal colectomy in systemic sclerosis.”

acute myeloid leukemiaResearch

A recent study examines the influence of pre-transplant extramedullary disease on outcomes in pediatric patients undergoing allogeneic hematopoietic cell transplantation for acute myeloid leukemia. The findings contribute to understanding treatment efficacy and patient management strategies.

impact of pre transplant extramedullary disease on the outcome of allogeneic hematopoietic cell transplantation for acute myeloid leukaemia in children on behalf of pdwp ebmt

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

Original title: “The impact of pre-transplant extramedullary disease on the outcome of allogeneic hematopoietic cell transplantation for acute myeloid leukaemia in children- on behalf of PDWP/EBMT.”

Research

New research highlights the genetic diversity of Altaic-speaking populations, particularly the Xibe and Daur, revealing insights into long-distance migration and multi-source admixture. This study contributes to understanding the genomic landscape of these populations.

tracing the genetic legacy of altaic speaking populations suggested long distance migration and multi source admixture shape the genomic diversity of xibe and daur

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

Original title: “Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur.”

Research

A recent study highlights a case of purulent pericarditis that presented with an abnormal electrocardiogram resembling ST-Elevation Myocardial Infarction (STEMI). This research contributes to the understanding of cardiac complications associated with purulent pericarditis.

purulent pericarditis presenting with abnormal electrocardiogram consistent with stemi

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

Original title: “Purulent Pericarditis Presenting With Abnormal Electrocardiogram Consistent With STEMI.”

Research

A recent publication discusses bilateral coronary ostial atresia as a malignant anatomic variant, highlighting its significance in rare disease research. This discovery may impact future diagnostic and therapeutic approaches.

bilateral coronary ostial atresia a malignant anatomic variant

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

Original title: “Bilateral Coronary Ostial Atresia: A Malignant Anatomic Variant.”

Research

A recent study published on PubMed discusses a case of contained juxtarenal aortic perforation linked to severe warfarin-associated coagulopathy. This research highlights the complexities and risks associated with anticoagulant therapy.

contained juxtarenal aortic perforation in the setting of severe warfarin associated coagulopathy

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

Original title: “Contained Juxtarenal Aortic Perforation in the Setting of Severe Warfarin-Associated Coagulopathy.”

Research

A new case series highlights the diverse neurological phenotypes associated with ATP1A3-related syndromes, particularly emphasizing fever-triggered symptoms. This research contributes to the understanding of the clinical variability in these rare conditions.

atp1a3 related syndromes our case series unveiling a dynamic fever triggered and overlapping array of neurological phenotypes

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

Original title: “ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes.”

Research

A recent review highlights the diverse microbial spectrum involved in mixed respiratory fungal infections, providing insights into potential treatment strategies. This research contributes to the understanding of fungal pathogens in respiratory diseases.

review of the microbial spectrum of mixed respiratory fungal infections

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

Original title: “Review of the Microbial Spectrum of Mixed Respiratory Fungal Infections.”

Research

A new study explores the progression of ring melanoma treatment from vitrectomy to enucleation, highlighting the challenges and outcomes associated with these surgical interventions. This research contributes to the understanding of treatment options for this rare ocular condition.

ring melanoma from vitrectomy to enucleation

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

Original title: “Ring Melanoma: from Vitrectomy to Enucleation.”

Research

A new study discusses limited pancreas-sparing surgical resections for non-ampullary duodenal neoplasms, detailing indications, techniques, and outcomes. This research could influence surgical approaches for these rare tumors.

limited pancreas sparing surgical resections for non ampullary duodenal neoplasms indications surgical techniques and outcomes

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

Original title: “Limited (pancreas-sparing) surgical resections for non-ampullary duodenal neoplasms: indications, surgical techniques and outcomes.”

Research

A case report highlights durable complete remission of pulmonary metastases in a patient with homologous recombination-deficient gynecologic large-cell neuroendocrine carcinoma using a combination of bevacizumab and olaparib. This finding may inform future treatment strategies for this rare cancer type.

durable complete remission of pulmonary metastases with bevacizumab plus olaparib maintenance therapy in homologous recombination deficient gynecologic large cell neuroendocrine carcinoma a case report

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

Original title: “Durable complete remission of pulmonary metastases with bevacizumab plus olaparib maintenance therapy in homologous recombination-deficient gynecologic large-cell neuroendocrine carcinoma: A case report.”

Research

A study identifies a pathogenic variant in the GNB1 gene linked to GNB1-related neurodevelopmental disorder, inherited from an asymptomatic father with mosaicism. This discovery enhances understanding of the genetic underpinnings of this rare condition.

gnb1 related neurodevelopmental disorder due to a pathogenic exon 6 variant nm 002074 5 c239t a p ile80asn inherited from an asymptomatic father with mosaicism

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

Original title: “GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.”

acute pancreatitis recurrent acute pancreatitisResearch

A five-year retrospective study evaluates maternal and fetal outcomes in pregnant women with acute pancreatitis. The findings contribute to understanding the implications of this condition during pregnancy.

evaluation of maternal and fetal outcomes in pregnant women with acute pancreatitis a five year retrospective study from a tertiary center

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

Original title: “Evaluation of Maternal and Fetal Outcomes in Pregnant Women with Acute Pancreatitis: A Five-Year Retrospective Study from a Tertiary Center.”

Research

A comprehensive review on genital dirofilaria highlights clinical presentations, diagnosis, and management strategies. This research provides valuable insights for healthcare professionals dealing with this rare condition.

genital dirofilaria a comprehensive review of clinical presentations diagnosis and management

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

Original title: “Genital Dirofilaria: A Comprehensive Review of Clinical Presentations, Diagnosis and Management.”

juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis+1 moreResearch

A recent study explores the characteristics of uveitis associated with juvenile idiopathic arthritis (JIA) during the transition age. The findings may provide insights into managing this condition in young patients.

characteristics of jia associated uveitis at the age of transition

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

Original title: “Characteristics of JIA-associated uveitis at the age of transition.”

Rasmussen subacute encephalitisResearch

New research identifies centroparietal periodic sharp-wave discharges and biphasic complexes as potential EEG biomarkers for the early diagnosis of Rasmussen encephalitis. This discovery could enhance diagnostic accuracy and improve patient outcomes.

centroparietal periodic sharp wave discharges and biphasic complexes novel eeg biomarkers for early diagnosis of rasmussen encephalitis

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

Original title: “Centroparietal periodic sharp-wave discharges and biphasic complexes: Novel EEG biomarkers for early diagnosis of Rasmussen encephalitis.”

Research

Recent research highlights the use of interpretable fine-tuned large language models to aid in making genetic testing decisions for rare diseases. This advancement could enhance diagnostic accuracy and decision-making processes in clinical settings.

interpretable fine tuned large language models facilitate making genetic test decisions for rare diseases

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

Original title: “Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases.”

Research

A case report details a fetal congenital right atrial appendage aneurysm with a two-year postnatal follow-up, contributing to the understanding of this rare cardiac condition. This study may inform future research and clinical approaches to similar cases.

case report fetal congenital right atrial appendage aneurysm with 2 year postnatal follow up

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

Original title: “Case Report: Fetal Congenital Right Atrial Appendage Aneurysm With 2-Year Postnatal Follow-Up.”

spinal cord injury spinal cord disorder+1 moreResearch

A recent retrospective cohort analysis evaluates the cost-effectiveness of subacute rehabilitation services for spinal cord injury. The findings contribute to understanding the economic impact of rehabilitation strategies in this patient population.

cost effectiveness of sub acute rehabilitation services for spinal cord injury a retrospective cohort analysis

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

Original title: “Cost-effectiveness of (sub)acute rehabilitation services for spinal cord injury: a retrospective cohort analysis.”

Previous295 / 486Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study published in PubMed highlights the use of fresh frozen plasma as a functional replacement therapy for early infantile ApoC-II deficiency. This case series provides molecular confirmation of the therapy's effectiveness in managing this rare condition.

A recent study examines the influence of pre-transplant extramedullary disease on outcomes in pediatric patients undergoing allogeneic hematopoietic cell transplantation for acute myeloid leukemia. The findings contribute to understanding treatment efficacy and patient management strategies.

New research highlights the genetic diversity of Altaic-speaking populations, particularly the Xibe and Daur, revealing insights into long-distance migration and multi-source admixture. This study contributes to understanding the genomic landscape of these populations.

A recent study highlights a case of purulent pericarditis that presented with an abnormal electrocardiogram resembling ST-Elevation Myocardial Infarction (STEMI). This research contributes to the understanding of cardiac complications associated with purulent pericarditis.

A recent publication discusses bilateral coronary ostial atresia as a malignant anatomic variant, highlighting its significance in rare disease research. This discovery may impact future diagnostic and therapeutic approaches.

A recent study published on PubMed discusses a case of contained juxtarenal aortic perforation linked to severe warfarin-associated coagulopathy. This research highlights the complexities and risks associated with anticoagulant therapy.

A new case series highlights the diverse neurological phenotypes associated with ATP1A3-related syndromes, particularly emphasizing fever-triggered symptoms. This research contributes to the understanding of the clinical variability in these rare conditions.

A recent review highlights the diverse microbial spectrum involved in mixed respiratory fungal infections, providing insights into potential treatment strategies. This research contributes to the understanding of fungal pathogens in respiratory diseases.

A new study explores the progression of ring melanoma treatment from vitrectomy to enucleation, highlighting the challenges and outcomes associated with these surgical interventions. This research contributes to the understanding of treatment options for this rare ocular condition.

A new study discusses limited pancreas-sparing surgical resections for non-ampullary duodenal neoplasms, detailing indications, techniques, and outcomes. This research could influence surgical approaches for these rare tumors.

A study identifies a pathogenic variant in the GNB1 gene linked to GNB1-related neurodevelopmental disorder, inherited from an asymptomatic father with mosaicism. This discovery enhances understanding of the genetic underpinnings of this rare condition.

A five-year retrospective study evaluates maternal and fetal outcomes in pregnant women with acute pancreatitis. The findings contribute to understanding the implications of this condition during pregnancy.

A comprehensive review on genital dirofilaria highlights clinical presentations, diagnosis, and management strategies. This research provides valuable insights for healthcare professionals dealing with this rare condition.

A recent study explores the characteristics of uveitis associated with juvenile idiopathic arthritis (JIA) during the transition age. The findings may provide insights into managing this condition in young patients.

New research identifies centroparietal periodic sharp-wave discharges and biphasic complexes as potential EEG biomarkers for the early diagnosis of Rasmussen encephalitis. This discovery could enhance diagnostic accuracy and improve patient outcomes.

Recent research highlights the use of interpretable fine-tuned large language models to aid in making genetic testing decisions for rare diseases. This advancement could enhance diagnostic accuracy and decision-making processes in clinical settings.

A case report details a fetal congenital right atrial appendage aneurysm with a two-year postnatal follow-up, contributing to the understanding of this rare cardiac condition. This study may inform future research and clinical approaches to similar cases.

A recent retrospective cohort analysis evaluates the cost-effectiveness of subacute rehabilitation services for spinal cord injury. The findings contribute to understanding the economic impact of rehabilitation strategies in this patient population.

Not rare diseases news,
news about your rare disease.