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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 multicenter study evaluates the outcomes of bilateral globus pallidus internus deep brain stimulation in patients with GNAO1-related disorder. The findings contribute to understanding treatment efficacy for this rare genetic condition.

outcomes of bilateral globus pallidus internus deep brain stimulation in gnao1 related disorder an international multicenter experience

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

Original title: “Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.”

ectopia lentis-chorioretinal dystrophy-myopia syndromeResearch

Research demonstrates that chiral nanoparticles can suppress inflammatory infiltration, aiding in extracellular matrix remodeling for ectopia lentis therapy. This innovative approach may enhance treatment options for patients with this condition.

chiral nanoparticles suppress inflammatory infiltration to promote extracellular matrix remodeling for ectopia lentis therapy

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

Original title: “Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy.”

Research

Research identifies three novel variants in the UBAP1L gene associated with generalized retinal dystrophy. This discovery could enhance understanding of the genetic basis of this condition.

three novel variants in the ubap1l gene lead to a generalized retinal dystrophy

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

Original title: “Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.”

Research

A systematic review evaluates long-term outcomes and complications of the Meso-Rex bypass procedure for extrahepatic portal vein obstruction (EHPVO). This study provides insights into the effectiveness and safety of this surgical intervention.

long term follow up complications and outcomes of meso rex bypass for extrahepatic portal vein obstruction ehpvo a systematic review

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

Original title: “Long-term follow-up, complications and outcomes of Meso-Rex bypass for extrahepatic portal vein obstruction (EHPVO): a systematic review.”

Research

A Korean nationwide cohort study investigates the occurrence of febrile seizures during the acute phase of Kawasaki disease. The findings contribute to understanding the neurological complications associated with this condition.

febrile seizure during the acute phase of kawasaki disease a korean nationwide cohort study

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

Original title: “Febrile seizure during the acute phase of Kawasaki disease: a Korean nationwide cohort study.”

Research

Research highlights unique adaptations in sulfatases that facilitate colonic mucin degradation by Akkermansia muciniphila. This discovery may have implications for understanding gut microbiota interactions and their role in health.

unique adaptations in sulfatases underpin colonic mucin degradation by akkermansia muciniphila

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

Original title: “Unique adaptations in sulfatases underpin colonic mucin degradation by Akkermansia muciniphila.”

osteogenesis imperfecta osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndromeResearch

New research highlights the significance of dosage in haploinsufficiency related to osteogenesis imperfecta. This study provides insights that could influence future therapeutic strategies for this brittle bone disease.

dose matters haploinsufficiency in osteogenesis imperfecta

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

Original title: “Dose matters: haploinsufficiency in osteogenesis imperfecta.”

chest wall lipoma chest wall bone cancerResearch

A recent study published in PubMed discusses a rare case of cough-induced chest wall trauma leading to spontaneous intercostal lung herniation and complicated by haemothorax. This case highlights the complexities and potential complications associated with severe coughing episodes.

cough induced chest wall trauma with spontaneous intercostal lung herniation complicated by haemothorax

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

Original title: “Cough-induced chest wall trauma with spontaneous intercostal lung herniation complicated by haemothorax.”

Research

A case report highlights charging failure linked to pulse generator rotation following deep brain stimulation. This finding may impact future device design and patient management strategies.

charging failure due to pulse generator rotation after deep brain stimulation a case report

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

Original title: “Charging failure due to pulse generator rotation after deep brain stimulation: a case report.”

Research

New research provides further characterization of the BRSK2-associated neurodevelopmental disorder, enhancing understanding of its genetic underpinnings. This study may inform future therapeutic strategies for affected individuals.

further characterization of the brsk2 associated neurodevelopmental disorder

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

Original title: “Further characterization of the BRSK2-associated neurodevelopmental disorder.”

central serous chorioretinopathyResearch

A large real-world cohort study evaluates the effectiveness of photodynamic therapy in treating central serous chorioretinopathy, focusing on treatment timing, anatomical response, and recurrence rates. The findings contribute valuable insights into optimizing treatment strategies for this condition.

photodynamic therapy in central serous chorioretinopathy treatment timing anatomical response and recurrence in a large real world cohort

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

Original title: “Photodynamic Therapy in Central Serous Chorioretinopathy: Treatment Timing, Anatomical Response, and Recurrence in a Large Real-World Cohort.”

atrophic papulosis malignant atrophic papulosis+1 moreResearch

A recent study published in PubMed explores solitary lesions resembling atrophic papulosis in early childhood. This research contributes to the understanding of skin manifestations in pediatric patients.

solitary lesion with features of atrophic papulosis in early childhood

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

Original title: “Solitary Lesion With Features of Atrophic Papulosis in Early Childhood.”

Research

A recent case report highlights the challenges in the timely diagnosis of Addison's disease, emphasizing the need for increased awareness among healthcare providers. The literature review included in the report discusses common diagnostic delays and their implications for patient outcomes.

delay in diagnosis of addison s disease a case report and literature review

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

Original title: “Delay in Diagnosis of Addison's Disease: A Case Report and Literature Review.”

Research

A multicenter retrospective study investigates clinical responses in patients with chronic myeloid leukemia (CML) harboring an ABL1 in-frame exon 4 deletion. The findings contribute to understanding the impact of this specific genetic alteration on treatment outcomes in CML.

characteristics of clinical response in patients with chronic myeloid leukemia with an abl1 in frame exon 4 deletion a multicenter retrospective study

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

Original title: “Characteristics of Clinical Response in Patients With Chronic Myeloid Leukemia With an ABL1 In-Frame Exon 4 Deletion: A Multicenter Retrospective Study.”

asthmaResearch

A recent study published in PubMed highlights that increased levels of high sensitivity C-reactive protein are associated with more severe wheeze and asthma phenotypes in both childhood and adulthood. This research could inform future therapeutic strategies for asthma management.

increased high sensitivity c reactive protein in more severe wheeze asthma phenotypes in child and adulthood in alliance

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

Original title: “Increased high sensitivity C-reactive protein in more severe wheeze/asthma phenotypes in child- and adulthood in ALLIANCE.”

cystinuria cystinuria type B+1 moreResearch

A narrative review on cystinuria discusses current diagnostic methods, medical and surgical management strategies, and highlights emerging therapies. This comprehensive overview aims to enhance understanding and treatment approaches for this rare condition.

cystinuria diagnosis medical and surgical management and emerging therapies a narrative review

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

Original title: “Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.”

Research

Recent research explores the transformation of macrocyclic unimolecular chloride channels into nanopores through aromatic interactions. This study may have implications for future therapeutic strategies in rare diseases involving ion channel dysfunction.

aromatic interaction driven adaptive transformation of macrocyclic unimolecular chloride channels into nanopores

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

Original title: “Aromatic Interaction-Driven Adaptive Transformation of Macrocyclic Unimolecular Chloride Channels Into Nanopores.”

autoimmune pancreatitisResearch

A case report details nodal metastasis from an occult duodenal gastrinoma in a patient with overlapping xanthogranulomatous and type 1 autoimmune pancreatitis. This study contributes to the understanding of complex interactions between these rare conditions.

nodal metastasis from an occult duodenal gastrinoma amid an overlap of xanthogranulomatous and type 1 autoimmune pancreatitis a case report

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

Original title: “Nodal metastasis from an occult duodenal gastrinoma amid an overlap of xanthogranulomatous and type 1 autoimmune pancreatitis: A case report.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

A recent study explores the pediatric presentation of primary biliary cholangitis, shedding light on its unique characteristics in children. This research contributes to the understanding of the disease's manifestation and may inform future clinical approaches.

hepatic enigma pediatric presentation of primary biliary cholangitis

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

Original title: “A hepatic enigma: Pediatric presentation of primary biliary cholangitis.”

Research

A new publication highlights primary adrenal epithelioid angiosarcoma as an extraordinarily rare malignancy, emphasizing the challenges in its diagnosis. This research contributes to the understanding of this rare disease and may inform future clinical approaches.

primary adrenal epithelioid angiosarcoma an extraordinarily rare malignancy with a challenging diagnosis

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

Original title: “Primary adrenal epithelioid angiosarcoma: An extraordinarily rare malignancy with a challenging diagnosis.”

Previous208 / 485Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A multicenter study evaluates the outcomes of bilateral globus pallidus internus deep brain stimulation in patients with GNAO1-related disorder. The findings contribute to understanding treatment efficacy for this rare genetic condition.

Research demonstrates that chiral nanoparticles can suppress inflammatory infiltration, aiding in extracellular matrix remodeling for ectopia lentis therapy. This innovative approach may enhance treatment options for patients with this condition.

Research identifies three novel variants in the UBAP1L gene associated with generalized retinal dystrophy. This discovery could enhance understanding of the genetic basis of this condition.

A systematic review evaluates long-term outcomes and complications of the Meso-Rex bypass procedure for extrahepatic portal vein obstruction (EHPVO). This study provides insights into the effectiveness and safety of this surgical intervention.

A Korean nationwide cohort study investigates the occurrence of febrile seizures during the acute phase of Kawasaki disease. The findings contribute to understanding the neurological complications associated with this condition.

Research highlights unique adaptations in sulfatases that facilitate colonic mucin degradation by Akkermansia muciniphila. This discovery may have implications for understanding gut microbiota interactions and their role in health.

New research highlights the significance of dosage in haploinsufficiency related to osteogenesis imperfecta. This study provides insights that could influence future therapeutic strategies for this brittle bone disease.

A recent study published in PubMed discusses a rare case of cough-induced chest wall trauma leading to spontaneous intercostal lung herniation and complicated by haemothorax. This case highlights the complexities and potential complications associated with severe coughing episodes.

A case report highlights charging failure linked to pulse generator rotation following deep brain stimulation. This finding may impact future device design and patient management strategies.

New research provides further characterization of the BRSK2-associated neurodevelopmental disorder, enhancing understanding of its genetic underpinnings. This study may inform future therapeutic strategies for affected individuals.

A recent study published in PubMed explores solitary lesions resembling atrophic papulosis in early childhood. This research contributes to the understanding of skin manifestations in pediatric patients.

A recent case report highlights the challenges in the timely diagnosis of Addison's disease, emphasizing the need for increased awareness among healthcare providers. The literature review included in the report discusses common diagnostic delays and their implications for patient outcomes.

A multicenter retrospective study investigates clinical responses in patients with chronic myeloid leukemia (CML) harboring an ABL1 in-frame exon 4 deletion. The findings contribute to understanding the impact of this specific genetic alteration on treatment outcomes in CML.

A recent study published in PubMed highlights that increased levels of high sensitivity C-reactive protein are associated with more severe wheeze and asthma phenotypes in both childhood and adulthood. This research could inform future therapeutic strategies for asthma management.

A narrative review on cystinuria discusses current diagnostic methods, medical and surgical management strategies, and highlights emerging therapies. This comprehensive overview aims to enhance understanding and treatment approaches for this rare condition.

Recent research explores the transformation of macrocyclic unimolecular chloride channels into nanopores through aromatic interactions. This study may have implications for future therapeutic strategies in rare diseases involving ion channel dysfunction.

A case report details nodal metastasis from an occult duodenal gastrinoma in a patient with overlapping xanthogranulomatous and type 1 autoimmune pancreatitis. This study contributes to the understanding of complex interactions between these rare conditions.

A recent study explores the pediatric presentation of primary biliary cholangitis, shedding light on its unique characteristics in children. This research contributes to the understanding of the disease's manifestation and may inform future clinical approaches.

A new publication highlights primary adrenal epithelioid angiosarcoma as an extraordinarily rare malignancy, emphasizing the challenges in its diagnosis. This research contributes to the understanding of this rare disease and may inform future clinical approaches.

Not rare diseases news,
news about your rare disease.