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What's new in your rare disease | Kisho

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news about your rare disease.

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insulin autoimmune syndrome Hashimoto thyroiditisResearch

A recent study explores the clinical management of insulin autoimmune syndrome linked to Hashimoto thyroiditis and nodular thyroid disease using flash glucose monitoring and prednisolone therapy. This research highlights the complexities of managing autoimmune conditions and their interrelations.

insulin autoimmune syndrome associated with hashimoto thyroiditis and nodular thyroid disease clinical management with flash glucose monitoring and prednisolone therapy

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

Original title: “Insulin Autoimmune Syndrome Associated With Hashimoto Thyroiditis and Nodular Thyroid Disease: Clinical Management With Flash Glucose Monitoring and Prednisolone Therapy.”

congenitalResearch

A recent case report details congenital erythropoietic porphyria with persistent severe biochemical abnormalities and a non-mutilating clinical course. This study contributes to the understanding of the disease's clinical presentation and management.

congenital erythropoietic porphyria with persistent severe biochemical abnormalities and a non mutilating clinical course a case report

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

Original title: “Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.”

psoriatic arthritisResearch

A case study highlights the development of Epstein-Barr virus-associated primary vitreoretinal B-cell lymphoma in a patient treated with tofacitinib and methotrexate for psoriatic arthritis. This finding underscores the potential risks associated with immunosuppressive therapies in patients with underlying viral infections.

epstein barr virus associated primary vitreoretinal b cell lymphoma in a patient receiving tofacitinib and methotrexate for psoriatic arthritis

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

Original title: “Epstein-Barr Virus-Associated Primary Vitreoretinal B-Cell Lymphoma in a Patient Receiving Tofacitinib and Methotrexate for Psoriatic Arthritis.”

Research

A recent study explores the role of SEL1L in stable platelet adhesion, contributing to our understanding of hemostasis. This research may have implications for developing therapies targeting bleeding disorders.

one health horsepower in hemostasis sel1lecting stable platelet adhesion

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

Original title: “One Health horsepower in hemostasis: SEL1Lecting stable platelet adhesion.”

sickle cell diseaseResearch

A case study highlights the concomitant occlusion of the deep dorsal vein and dorsal artery of the penis in a patient with sickle cell anemia. This discovery may provide insights into vascular complications associated with the disease.

concomitant occlusion of the deep dorsal vein and dorsal artery of the penis in a sickle cell anaemia patient

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

Original title: “Concomitant occlusion of the deep dorsal vein and dorsal artery of the penis in a sickle cell anaemia patient.”

pulmonary arterial hypertension idiopathic pulmonary arterial hypertension+1 moreResearch

A retrospective study published in PubMed examines healthcare resource utilization and medical costs associated with managing pulmonary arterial hypertension in Japan. The findings provide insights into the economic burden of this rare disease, which can inform future healthcare policies and treatment strategies.

healthcare resource utilization and medical costs in pulmonary arterial hypertension management in japan a retrospective study using a claims database

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

Original title: “Healthcare Resource Utilization and Medical Costs in Pulmonary Arterial Hypertension Management in Japan: A Retrospective Study Using a Claims Database.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

A case study reports complete remission in a patient with advanced hepatocellular carcinoma following sequential therapy with durvalumab and cabozantinib. This finding may provide insights into effective treatment strategies for this challenging cancer.

case of complete remission with durvalumab cabozantinib sequential therapy for advanced hepatocellular carcinoma

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

Original title: “A case of complete remission with durvalumab-cabozantinib sequential therapy for advanced hepatocellular carcinoma.”

post-transplant lymphoproliferative diseaseResearch

A rare case report details gastrointestinal-localized polymorphic post-transplant lymphoproliferative disorder following kidney transplantation after allogeneic hematopoietic stem cell transplantation. This case highlights the complexities and potential complications in post-transplant care.

gastrointestinal localized polymorphic post transplant lymphoproliferative disorder following kidney transplantation after allogeneic hematopoietic stem cell transplantation a rare case report

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

Original title: “Gastrointestinal-localized polymorphic post-transplant lymphoproliferative disorder following kidney transplantation after allogeneic hematopoietic stem cell transplantation: a rare case report.”

Research

A rare case study highlights obstructive shock due to a giant biloma causing right heart compression in a hemodialysis patient. This discovery may inform future clinical approaches to similar cases.

rare case of obstructive shock caused by a giant biloma with right heart compression in a patient undergoing hemodialysis

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

Original title: “A rare case of obstructive shock caused by a giant biloma with right heart compression in a patient undergoing hemodialysis.”

hypophosphatasia infantile hypophosphatasia+1 moreResearch

A study validates proposed diagnostic criteria for hypophosphatasia in adults using a Spanish cohort. This research enhances the understanding and identification of this rare bone disease.

external validation of the proposed diagnostic criteria for hypophosphatasia in adults of a spanish cohort

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

Original title: “External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.”

Research

A recent study published in PubMed reveals a method for unlocking rare 3-O-sulfation patterns in heparan sulfate through ARSG-directed regioselective desulfation and HILIC-MS. This research could enhance understanding of glycosaminoglycan structures and their biological roles.

unlocking rare 3 o sulfation patterns in heparan sulfate via arsg directed regioselective desulfation and hilic ms

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

Original title: “Unlocking Rare 3-O-Sulfation Patterns in Heparan Sulfate via ARSG-Directed Regioselective Desulfation and HILIC-MS.”

Research

A recent analysis highlights the current status and technological characteristics of orphan drug research and development in China. This study provides insights into patent trends that could inform future strategies in the rare disease sector.

patent analysis perspectives on china s orphan drug r d status and technology characteristics

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

Original title: “Patent Analysis Perspectives on China's Orphan Drug R&D: Status and Technology Characteristics.”

autosomal dominant polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney diseaseResearch

A case report highlights recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis. This study contributes to the understanding of complications associated with this genetic condition.

recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis a case report

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

Original title: “Recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis: a case report.”

acid sphingomyelinase deficiency chronic neurovisceral acid sphingomyelinase deficiencyResearch

A post hoc analysis reveals that diffusing lung capacity for carbon monoxide significantly impacts mortality risk in patients with acid sphingomyelinase deficiency (ASMD). This study provides new insights into the respiratory complications associated with ASMD.

impact of diffusing lung capacity for carbon monoxide on mortality risk in patients with asmd insights from a post hoc analysis

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

Original title: “Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc Analysis.”

lower urinary tract calculus lower urinary tract obstruction, congenital+1 moreResearch

A case report highlights the successful application of argon plasma coagulation in treating multiple recurrent lower tract papillomatosis. This technique may offer a new therapeutic option for patients suffering from this condition.

successful use of argon plasma coagulation in the treatment of multiple recurrent lower tract papillomatosis a case report

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

Original title: “Successful Use of Argon Plasma Coagulation in the Treatment of Multiple Recurrent Lower Tract Papillomatosis: A Case Report.”

hypertension, pregnancy-inducedResearch

Researchers have developed the Alms1 knockout rat as a novel model for studying cardiometabolic syndrome and spontaneous hypertension. This model may enhance understanding of the disease mechanisms and facilitate the development of targeted therapies.

alms1 ko rat a new model of cardiometabolic syndrome with spontaneous hypertension

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

Original title: “Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.”

Research

Research highlights the antipruritic effects of linerixibat, an ileal bile acid transporter inhibitor. This study may provide insights into new treatment options for patients suffering from pruritus.

antipruritic effects of the ileal bile acid transporter inhibitor linerixibat

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

Original title: “Antipruritic effects of the ileal bile acid transporter inhibitor linerixibat.”

pancreatic endocrine carcinoma mixed ductal-endocrine carcinoma of pancreasResearch

A new study published in PubMed discusses endocrine carcinoma with an amphicrine carcinoma component located at the esophagogastric junction. This research adds to the understanding of rare cancer types and their characteristics.

endocrine carcinoma with amphicrine carcinoma component at esophagogastric junction

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

Original title: “Endocrine carcinoma with amphicrine carcinoma component at esophagogastric junction.”

Research

A study published in PubMed details the disease progression in rod-cone dystrophy linked to a rare heterozygous variant in the IMPDH1 gene. This research enhances understanding of the genetic factors influencing this rare retinal disorder.

disease progression in impdh1 gene associated rod cone dystrophy caused by a rare p thr244pro heterozygous variant

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

Original title: “Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.”

primary membranoproliferative glomerulonephritisResearch

A recent study analyzes initial treatment patterns for primary membranoproliferative glomerulonephritis in Japan from 2017 to 2021, utilizing nationwide clinical records. This updated analysis provides insights into evolving therapeutic approaches for this rare kidney disease.

initial treatment patterns of primary membranoproliferative glomerulonephritis in japan 2017 2021 an updated analysis based on nationwide personal clinical records

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

Original title: “Initial treatment patterns of primary membranoproliferative glomerulonephritis in Japan (2017-2021): an updated analysis based on nationwide personal clinical records.”

Previous455 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study explores the clinical management of insulin autoimmune syndrome linked to Hashimoto thyroiditis and nodular thyroid disease using flash glucose monitoring and prednisolone therapy. This research highlights the complexities of managing autoimmune conditions and their interrelations.

A recent case report details congenital erythropoietic porphyria with persistent severe biochemical abnormalities and a non-mutilating clinical course. This study contributes to the understanding of the disease's clinical presentation and management.

A recent study explores the role of SEL1L in stable platelet adhesion, contributing to our understanding of hemostasis. This research may have implications for developing therapies targeting bleeding disorders.

A case study highlights the concomitant occlusion of the deep dorsal vein and dorsal artery of the penis in a patient with sickle cell anemia. This discovery may provide insights into vascular complications associated with the disease.

A case study reports complete remission in a patient with advanced hepatocellular carcinoma following sequential therapy with durvalumab and cabozantinib. This finding may provide insights into effective treatment strategies for this challenging cancer.

A rare case report details gastrointestinal-localized polymorphic post-transplant lymphoproliferative disorder following kidney transplantation after allogeneic hematopoietic stem cell transplantation. This case highlights the complexities and potential complications in post-transplant care.

A rare case study highlights obstructive shock due to a giant biloma causing right heart compression in a hemodialysis patient. This discovery may inform future clinical approaches to similar cases.

A study validates proposed diagnostic criteria for hypophosphatasia in adults using a Spanish cohort. This research enhances the understanding and identification of this rare bone disease.

A recent study published in PubMed reveals a method for unlocking rare 3-O-sulfation patterns in heparan sulfate through ARSG-directed regioselective desulfation and HILIC-MS. This research could enhance understanding of glycosaminoglycan structures and their biological roles.

A recent analysis highlights the current status and technological characteristics of orphan drug research and development in China. This study provides insights into patent trends that could inform future strategies in the rare disease sector.

A case report highlights recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis. This study contributes to the understanding of complications associated with this genetic condition.

A post hoc analysis reveals that diffusing lung capacity for carbon monoxide significantly impacts mortality risk in patients with acid sphingomyelinase deficiency (ASMD). This study provides new insights into the respiratory complications associated with ASMD.

A case report highlights the successful application of argon plasma coagulation in treating multiple recurrent lower tract papillomatosis. This technique may offer a new therapeutic option for patients suffering from this condition.

Researchers have developed the Alms1 knockout rat as a novel model for studying cardiometabolic syndrome and spontaneous hypertension. This model may enhance understanding of the disease mechanisms and facilitate the development of targeted therapies.

Research highlights the antipruritic effects of linerixibat, an ileal bile acid transporter inhibitor. This study may provide insights into new treatment options for patients suffering from pruritus.

A new study published in PubMed discusses endocrine carcinoma with an amphicrine carcinoma component located at the esophagogastric junction. This research adds to the understanding of rare cancer types and their characteristics.

A study published in PubMed details the disease progression in rod-cone dystrophy linked to a rare heterozygous variant in the IMPDH1 gene. This research enhances understanding of the genetic factors influencing this rare retinal disorder.

A recent study analyzes initial treatment patterns for primary membranoproliferative glomerulonephritis in Japan from 2017 to 2021, utilizing nationwide clinical records. This updated analysis provides insights into evolving therapeutic approaches for this rare kidney disease.

Not rare diseases news,
news about your rare disease.