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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

In Vitro Terbinafine Response and Minimum Inhibitory Concentration-Squalene Epoxidase Mutation Correlation in Tinea Cruris and Corporis: A Cross-Sectional Study.

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

multiple symmetric lipomatosisResearch

A case report details multiple symmetric lipomatosis, also known as Madelung disease, presenting as a cervical lipomatous mass in a middle-aged male with a history of alcohol use. This case highlights the clinical manifestations and potential complications associated with the disease.

multiple symmetric lipomatosis madelung disease presenting as cervical lipomatous mass in a middle aged male with alcohol use in nepal a case report

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

Original title: “Multiple symmetric lipomatosis (Madelung disease) presenting as cervical lipomatous mass in a middle-aged male with alcohol use in Nepal: A Case Report.”

periventricular nodular heterotopia periventricular nodular heterotopia 7+1 moreResearch

Recent research identifies gene variants associated with periventricular nodular heterotopia, enhancing understanding of this neurological condition. The findings may inform future genetic testing and therapeutic strategies.

gene variants in periventricular nodular heterotopia

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

Original title: “Gene variants in periventricular nodular heterotopia.”

Research

A pilot study utilizing the MACSima™ imaging platform reveals high-plex spatial protein profiling in skeletal muscle biopsies from patients with inflammatory myopathies. This research could enhance understanding of disease mechanisms and inform future therapeutic strategies.

high plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the macsima imaging platform a pilot study

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

Original title: “High-plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the MACSima™ imaging platform: A pilot study.”

bulbospinal muscular atrophy proximal spinal muscular atrophyResearch

A study published on PubMed evaluates the reliability and construct validity of the Italian version of the AMAT scale in subjects with spinal bulbar muscular atrophy (SBMA). This research contributes to the assessment tools available for this rare disease.

reliability and construct validity of the italian version of amat scale in sbma subjects

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

Original title: “Reliability and construct validity of the Italian version of AMAT scale in SBMA subjects.”

sinonasal undifferentiated carcinomaResearch

A new study presents spatially resolved ex vivo drug response profiling in SMARCB1-deficient sinonasal carcinoma, providing insights into treatment responses. This research could inform future therapeutic strategies for this rare cancer type.

spatially resolved ex vivo drug response profiling in smarcb1 deficient sinonasal carcinoma

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

Original title: “Spatially resolved ex vivo drug response profiling in SMARCB1-deficient sinonasal carcinoma.”

tetralogy of fallot tetralogy of fallot and glaucomaResearch

A case report details a triple valve replacement in patients with repaired tetralogy of Fallot and mirror-image dextrocardia. This study contributes to the understanding of surgical options for complex congenital heart defects.

triple valve replacement in repaired tetralogy of fallot patients with mirror image dextrocardia a case report

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

Original title: “Triple-valve replacement in repaired tetralogy of fallot patients with mirror-image dextrocardia: a case report.”

leishmaniasis leishmaniasis, diffuse cutaneousResearch

A study reports the first imported case of New World leishmaniasis in Romania, highlighting diagnostic and therapeutic challenges in a non-endemic region. This case underscores the need for increased awareness and preparedness for rare diseases in areas where they are not typically found.

first imported case of new world leishmaniasis in romania diagnostic and therapeutic challenges in a non endemic country

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

Original title: “First imported case of New World leishmaniasis in Romania: diagnostic and therapeutic challenges in a non-endemic country.”

Research

A study characterizes Naganishia uzbekistanensis, highlighting diagnostic challenges and its antifungal resistance profile. This research contributes to understanding this rare fungal pathogen's clinical implications.

phenotypic and molecular characterization of naganishia uzbekistanensis diagnostic challenges and antifungal resistance profile

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

Original title: “Phenotypic and Molecular Characterization of Naganishia uzbekistanensis: Diagnostic Challenges and Antifungal Resistance Profile.”

Research

A qualitative study explores the adaptation of acceptance and commitment therapy for parents of children with undiagnosed conditions. This research aims to improve psychological support for families navigating the challenges of undiagnosed diseases.

tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions a qualitative pre implementation study

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

Original title: “Tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions: a qualitative pre-implementation study.”

Research

A new study introduces LFU-Net, a LoRA-enhanced frequency-aware U-Net designed for improved retinal segmentation. This innovative approach utilizes recursive residual attention fusion to enhance accuracy in retinal imaging.

lfu net lora enhanced frequency aware u net with recursive residual attention fusion for retinal segmentation

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

Original title: “LFU-Net: LoRA-enhanced frequency-aware U-Net with recursive residual attention fusion for retinal segmentation.”

thalassemia beta-thalassemia HBB/LCRBResearch

A cross-sectional study published in PubMed examines the socio-demographic and therapeutic profile of individuals living with thalassemia in Brazil from 2012 to 2022. This research provides valuable insights into the patient population and treatment approaches over the past decade.

socio demographic and therapeutic profile of people living with thalassemia in brazil between 2012 and 2022 a cross sectional study

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

Original title: “Socio-demographic and therapeutic profile of people living with thalassemia in Brazil between 2012 and 2022: A cross-sectional study.”

constrictive pericarditis squamous cell carcinoma+1 moreResearch

A recent study highlights constrictive pericarditis as a rare complication of metastatic squamous cell carcinoma, emphasizing its severity and the need for awareness among clinicians. This condition poses significant challenges in diagnosis and management.

constrictive pericarditis due to metastatic squamous cell carcinoma a rare and ominous condition

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

Original title: “Constrictive Pericarditis Due to Metastatic Squamous Cell Carcinoma: A Rare and Ominous Condition.”

Wilson diseaseResearch

A recent study explores the outcomes of liver transplantation in patients with Wilson disease, highlighting the range from acute liver failure to neurological manifestations. This research provides insights into the clinical spectrum of Wilson disease and the potential benefits of transplantation.

liver transplantation for wilson disease a spectrum from acute liver failure to neuro wilson

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

Original title: “Liver transplantation for Wilson disease: a spectrum from acute liver failure to Neuro-Wilson.”

rheumatoid arthritis polyarticular juvenile rheumatoid arthritisResearch

A recent study investigates how disease duration affects forefoot involvement in patients with rheumatoid arthritis in remission. The research utilizes clinical, ultrasound, and radiographic assessments to provide insights into the condition's progression.

impact of disease duration on forefoot involvement in rheumatoid arthritis remission clinical ultrasound and radiographic insights

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

Original title: “Impact of disease duration on forefoot involvement in rheumatoid arthritis remission: clinical, ultrasound, and radiographic insights.”

Cornelia de Lange syndrome Cornelia de Lange syndrome 2+1 moreResearch

A case report identifies a de novo start-loss variant in the NIPBL gene linked to mild type 1 Cornelia de Lange syndrome in an Iranian family. This finding contributes to the understanding of genetic factors in this rare condition.

de novo start loss variant in the nipbl gene causing mild type 1 cornelia de lange syndrome in an iranian family a case report

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

Original title: “A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.”

metabolic diseaseResearch

A retrospective study examines the public education efforts on endocrine and metabolic diseases through academic journals' WeChat accounts. The findings highlight the current status and effectiveness of these educational initiatives.

correction current status of public education on endocrine and metabolic diseases carried out by academic journals wechat official accounts a retrospective study

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

Original title: “Correction: Current status of public education on endocrine and metabolic diseases carried out by academic journals' WeChat official accounts: a retrospective study.”

Research

A survey-based study highlights significant awareness and knowledge gaps regarding pediatric rare diseases among anesthesia practitioners in China. This research underscores the need for improved education and training in this critical area.

awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in china a survey based study

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

Original title: “Awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in China: a survey-based study.”

Research

A decade-long retrospective study on thoracic inflammatory myofibroblastic tumors reveals significant clinicopathological and molecular features. This research enhances understanding of the disease, potentially guiding future therapeutic strategies.

thoracic inflammatory myofibroblastic tumors a decade long retrospective study integrating clinicopathological and molecular features from a tertiary care centre

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

Original title: “Thoracic inflammatory myofibroblastic tumors: A decade-long retrospective study integrating clinicopathological and molecular features from a tertiary care centre.”

third-degree atrioventricular blockResearch

A case study highlights the successful management of complete atrioventricular block caused by severe hyperkalemia in a hemodialysis patient using temporary transvenous pacing. This research underscores the critical need for effective interventions in patients with complex cardiac conditions.

complete atrioventricular block due to severe hyperkalemia in a hemodialysis patient successful management with temporary transvenous pacing

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

Original title: “Complete Atrioventricular Block Due to Severe Hyperkalemia in a Hemodialysis Patient: Successful Management with Temporary Transvenous Pacing.”

Previous330 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

In Vitro Terbinafine Response and Minimum Inhibitory Concentration-Squalene Epoxidase Mutation Correlation in Tinea Cruris and Corporis: A Cross-Sectional Study.

A case report details multiple symmetric lipomatosis, also known as Madelung disease, presenting as a cervical lipomatous mass in a middle-aged male with a history of alcohol use. This case highlights the clinical manifestations and potential complications associated with the disease.

Recent research identifies gene variants associated with periventricular nodular heterotopia, enhancing understanding of this neurological condition. The findings may inform future genetic testing and therapeutic strategies.

A pilot study utilizing the MACSima™ imaging platform reveals high-plex spatial protein profiling in skeletal muscle biopsies from patients with inflammatory myopathies. This research could enhance understanding of disease mechanisms and inform future therapeutic strategies.

A study published on PubMed evaluates the reliability and construct validity of the Italian version of the AMAT scale in subjects with spinal bulbar muscular atrophy (SBMA). This research contributes to the assessment tools available for this rare disease.

A new study presents spatially resolved ex vivo drug response profiling in SMARCB1-deficient sinonasal carcinoma, providing insights into treatment responses. This research could inform future therapeutic strategies for this rare cancer type.

A case report details a triple valve replacement in patients with repaired tetralogy of Fallot and mirror-image dextrocardia. This study contributes to the understanding of surgical options for complex congenital heart defects.

A study reports the first imported case of New World leishmaniasis in Romania, highlighting diagnostic and therapeutic challenges in a non-endemic region. This case underscores the need for increased awareness and preparedness for rare diseases in areas where they are not typically found.

A study characterizes Naganishia uzbekistanensis, highlighting diagnostic challenges and its antifungal resistance profile. This research contributes to understanding this rare fungal pathogen's clinical implications.

A qualitative study explores the adaptation of acceptance and commitment therapy for parents of children with undiagnosed conditions. This research aims to improve psychological support for families navigating the challenges of undiagnosed diseases.

A new study introduces LFU-Net, a LoRA-enhanced frequency-aware U-Net designed for improved retinal segmentation. This innovative approach utilizes recursive residual attention fusion to enhance accuracy in retinal imaging.

A cross-sectional study published in PubMed examines the socio-demographic and therapeutic profile of individuals living with thalassemia in Brazil from 2012 to 2022. This research provides valuable insights into the patient population and treatment approaches over the past decade.

A recent study highlights constrictive pericarditis as a rare complication of metastatic squamous cell carcinoma, emphasizing its severity and the need for awareness among clinicians. This condition poses significant challenges in diagnosis and management.

A recent study explores the outcomes of liver transplantation in patients with Wilson disease, highlighting the range from acute liver failure to neurological manifestations. This research provides insights into the clinical spectrum of Wilson disease and the potential benefits of transplantation.

A recent study investigates how disease duration affects forefoot involvement in patients with rheumatoid arthritis in remission. The research utilizes clinical, ultrasound, and radiographic assessments to provide insights into the condition's progression.

A case report identifies a de novo start-loss variant in the NIPBL gene linked to mild type 1 Cornelia de Lange syndrome in an Iranian family. This finding contributes to the understanding of genetic factors in this rare condition.

A retrospective study examines the public education efforts on endocrine and metabolic diseases through academic journals' WeChat accounts. The findings highlight the current status and effectiveness of these educational initiatives.

A survey-based study highlights significant awareness and knowledge gaps regarding pediatric rare diseases among anesthesia practitioners in China. This research underscores the need for improved education and training in this critical area.

A decade-long retrospective study on thoracic inflammatory myofibroblastic tumors reveals significant clinicopathological and molecular features. This research enhances understanding of the disease, potentially guiding future therapeutic strategies.

A case study highlights the successful management of complete atrioventricular block caused by severe hyperkalemia in a hemodialysis patient using temporary transvenous pacing. This research underscores the critical need for effective interventions in patients with complex cardiac conditions.

Not rare diseases news,
news about your rare disease.