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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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primary hyperparathyroidism familial primary hyperparathyroidism+1 moreResearch

A recent study highlights the poor prognosis of pancreatitis associated with primary hyperparathyroidism, revealing distinct serum calcium trajectories that may inform proactive therapeutic strategies. This research underscores the need for tailored management approaches in affected patients.

primary hyperparathyroidism associated pancreatitis poor prognosis distinct serum calcium trajectories and proactive therapeutic implications

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

Original title: “Primary hyperparathyroidism-associated pancreatitis: poor prognosis, distinct serum calcium trajectories, and proactive therapeutic implications.”

ulcerative colitisResearch

A case study published in PubMed highlights the emergence of cutaneous autoimmune blistering disease in a patient undergoing treatment with mirikizumab for ulcerative colitis. This finding suggests a potential new trigger for this rare condition associated with the therapy.

cutaneous autoimmune blistering disease during mirikizumab therapy in a patient with ulcerative colitis a new potential trigger

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

Original title: “Cutaneous autoimmune blistering disease during mirikizumab therapy in a patient with ulcerative colitis: a new potential trigger?”

spinal muscular atrophy infantile-onset X-linked spinal muscular atrophyResearch

Research reveals that organ-specific redox imbalances in spinal muscular atrophy (SMA) mice can be partially corrected using SMN antisense oligonucleotides. This study contributes to understanding the biochemical pathways involved in SMA and potential therapeutic approaches.

organ specific redox imbalances in spinal muscular atrophy mice are partially rescued by smn antisense oligonucleotides

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

Original title: “Organ-specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides.”

heart failure congestive heart failure+1 moreResearch

A case report details the incidental discovery of an adrenal adenoma in a 10-year-old girl presenting with heart failure, identified through cardiac MRI. This finding highlights the importance of advanced imaging techniques in diagnosing underlying conditions in pediatric patients.

heart failure in a 10 year old girl incidental discovery of adrenal adenoma by cardiac mri case report

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

Original title: “Heart failure in a 10-year-old girl: incidental discovery of adrenal adenoma by cardiac MRI-case report.”

ventricular tachycardia ventricular tachycardia, familial+1 moreResearch

A case report details the occurrence of bidirectional ventricular tachycardia following ricin intoxication, highlighting a rare cardiac complication associated with this toxin. This finding may inform future research on the cardiovascular effects of ricin exposure.

bidirectional ventricular tachycardia following ricin intoxication a case report

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

Original title: “Bidirectional ventricular tachycardia following ricin intoxication: a case report.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

A study highlights a rare but fatal progression of hepatocellular carcinoma (HCC) to a right atrial tumor thrombus and inferior vena cava. This finding underscores the critical need for awareness and early detection in HCC cases.

rare but fatal outcome is hepatocellular carcinoma hcc progressing to the right atrial tumor thrombus and inferior vena cava

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

Original title: “A rare but fatal outcome is hepatocellular carcinoma (HCC) progressing to the right atrial tumor thrombus and inferior vena cava.”

Research

A novel SERPINA1 variant c.236 T > A has been identified, presenting challenges in characterizing new rare mutations associated with alpha-1 antitrypsin deficiency. This discovery may impact future diagnostic and therapeutic strategies for affected individuals.

clinical implications of a novel serpina1 variant c 236 t a challenges in characterizing new rare alpha 1 antitrypsin mutations

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

Original title: “Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations.”

thymic epithelial neoplasmResearch

A retrospective study examines the impact of relative dose intensity of first-line platinum-based chemotherapy in patients with thymic epithelial tumors. The findings contribute to understanding treatment efficacy in this rare cancer type.

impact of relative dose intensity of first line platinum based chemotherapy in patients with thymic epithelial tumors a retrospective study

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

Original title: “Impact of relative dose intensity of first-line platinum-based chemotherapy in patients with thymic epithelial tumors: a retrospective study.”

Research

A recent study published in PubMed explores human papillomavirus-associated adenoma of the anorectum, shedding light on its implications for patient management. This research contributes to the understanding of HPV-related conditions and their potential impact on rare disease populations.

human papillomavirus associated adenoma of the anorectum

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

Original title: “Human papillomavirus-associated adenoma of the anorectum.”

chronic inflammatory demyelinating polyradiculoneuropathy polyneuropathy, inflammatory demyelinating, chronic+1 moreResearch

A case report details an 89-year-old man with chronic inflammatory demyelinating polyradiculoneuropathy who developed encephalitis caused by human herpesvirus 6 variant A while on prednisolone. This highlights potential complications in elderly patients with underlying neurological conditions.

a case report an 89 year old man taking prednisolone for chronic inflammatory demyelinating polyradiculoneuropathy diagnosed with human herpesvirus 6 variant a encephalitis

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

Original title: “[A case report: an 89-year-old man taking prednisolone for chronic inflammatory demyelinating polyradiculoneuropathy diagnosed with human herpesvirus 6 variant A encephalitis].”

autoimmune hemolytic anemia autoimmune hemolytic anemia, warm typeResearch

A case report highlights the management of pregnancy-induced autoimmune hemolytic anemia using rituximab, providing insights into treatment efficacy during pregnancy. This narrative review contributes to understanding the complexities of autoimmune conditions in pregnant patients.

management of pregnancy induced autoimmune haemolytic anaemia with rituximab a case report and narrative review

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

Original title: “Management of pregnancy-induced autoimmune haemolytic anaemia with rituximab. A case report and narrative review.”

glioblastoma adult glioblastoma+1 moreResearch

Recent research highlights the potential of platinum-based therapeutics as multi-modal radiosensitizers in glioblastoma treatment. This study suggests that these agents could enhance the efficacy of radiation therapy for patients with this aggressive brain tumor.

platinum based therapeutics as emerging multi modal radiosensitizers in glioblastoma treatment

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

Original title: “Platinum-based therapeutics as emerging multi-modal radiosensitizers in glioblastoma treatment.”

Research

A multicenter international cohort study of HA20 has identified a novel genetic architecture and insights into phenotypic evolution. This research contributes to the understanding of HA20, potentially guiding future therapeutic strategies.

multicenter international cohort study of ha20 reveals novel genetic architecture and phenotypic evolution

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

Original title: “Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.”

non-arteritic anterior ischemic optic neuropathyResearch

A systematic review and meta-analysis investigates the association between semaglutide and the risk of non-arteritic ischemic optic neuropathy. The findings contribute to understanding the safety profile of this medication in patients.

semaglutide and the risk of non arteritic ischemic optic neuropathy a systematic review and certainty of evidence meta analysis

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

Original title: “Semaglutide and the Risk of Non-Arteritic Ischemic Optic Neuropathy: A Systematic Review and Certainty of Evidence Meta-Analysis.”

Research

A systematic review and meta-analysis evaluates the comparative efficacy, immune response, and safety of mRNA vaccines versus dendritic cell vaccines in treating solid tumors. The findings contribute to understanding vaccine strategies in oncology.

comparative efficacy immune response and safety of mrna versus dendritic cell vaccines in solid tumors a systematic review and meta analysis

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

Original title: “Comparative efficacy, immune response, and safety of mRNA versus dendritic cell vaccines in solid tumors: a systematic review and meta-analysis.”

Research

The Journal of Human Immunity is expanding its focus on human immunology, which may lead to new insights and advancements in understanding immune-related rare diseases. This initiative aims to enhance research dissemination in the field.

expanding the scope of human immunology in the journal of human immunity

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

Original title: “Expanding the scope of human immunology in the Journal of Human Immunity.”

Research

Research identifies MST1 as a promoter of microglial pyroptosis and neuroinflammation in Alzheimer's disease through the DPP8/NLRP1/Caspase-1/GSDMD-N axis. This discovery could lead to new therapeutic targets for managing neuroinflammation in Alzheimer's.

mst1 promotes microglial pyroptosis and neuroinflammation in alzheimer s disease by regulating the novel dpp8 nlrp1 caspase 1 gsdmd n axis

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

Original title: “MST1 promotes microglial pyroptosis and neuroinflammation in alzheimer's disease by regulating the novel DPP8/NLRP1/Caspase-1/GSDMD-N axis.”

rippling muscle disease rippling muscle disease 2Research

A recent publication discusses clinical support and education initiatives for muscle diseases in Japan and other Asian regions. The findings highlight the importance of tailored educational programs to improve patient care and outcomes.

clinical support and education in muscle disease experiences from japan and asian regions

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

Original title: “[Clinical support and education in muscle disease-Experiences from Japan and Asian regions].”

lung abscess chronic obstructive pulmonary diseaseResearch

A rare case study highlights a lung abscess caused by Mycoplasma pneumoniae in an adult suffering from chronic obstructive pulmonary disease. This finding contributes to the understanding of atypical infections in patients with pre-existing respiratory conditions.

rare case of lung abscess caused by mycoplasma pneumoniae in an adult with chronic obstructive pulmonary disease

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

Original title: “A rare case of lung abscess caused by Mycoplasma pneumoniae in an adult with chronic obstructive pulmonary disease.”

cardiomyopathy familial hypertrophic cardiomyopathyResearch

A recent study highlights the clinical usefulness of genetic diagnosis in early-onset cardiomyopathies, emphasizing its potential to improve patient management and outcomes. The findings support the integration of genetic testing in clinical practice for these conditions.

clinical usefulness of genetic diagnosis in early onset cardiomyopathies

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

Original title: “Clinical usefulness of genetic diagnosis in early-onset cardiomyopathies.”

Previous460 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study highlights the poor prognosis of pancreatitis associated with primary hyperparathyroidism, revealing distinct serum calcium trajectories that may inform proactive therapeutic strategies. This research underscores the need for tailored management approaches in affected patients.

A case study published in PubMed highlights the emergence of cutaneous autoimmune blistering disease in a patient undergoing treatment with mirikizumab for ulcerative colitis. This finding suggests a potential new trigger for this rare condition associated with the therapy.

Research reveals that organ-specific redox imbalances in spinal muscular atrophy (SMA) mice can be partially corrected using SMN antisense oligonucleotides. This study contributes to understanding the biochemical pathways involved in SMA and potential therapeutic approaches.

A case report details the incidental discovery of an adrenal adenoma in a 10-year-old girl presenting with heart failure, identified through cardiac MRI. This finding highlights the importance of advanced imaging techniques in diagnosing underlying conditions in pediatric patients.

A case report details the occurrence of bidirectional ventricular tachycardia following ricin intoxication, highlighting a rare cardiac complication associated with this toxin. This finding may inform future research on the cardiovascular effects of ricin exposure.

A study highlights a rare but fatal progression of hepatocellular carcinoma (HCC) to a right atrial tumor thrombus and inferior vena cava. This finding underscores the critical need for awareness and early detection in HCC cases.

A novel SERPINA1 variant c.236 T > A has been identified, presenting challenges in characterizing new rare mutations associated with alpha-1 antitrypsin deficiency. This discovery may impact future diagnostic and therapeutic strategies for affected individuals.

A retrospective study examines the impact of relative dose intensity of first-line platinum-based chemotherapy in patients with thymic epithelial tumors. The findings contribute to understanding treatment efficacy in this rare cancer type.

A recent study published in PubMed explores human papillomavirus-associated adenoma of the anorectum, shedding light on its implications for patient management. This research contributes to the understanding of HPV-related conditions and their potential impact on rare disease populations.

A case report details an 89-year-old man with chronic inflammatory demyelinating polyradiculoneuropathy who developed encephalitis caused by human herpesvirus 6 variant A while on prednisolone. This highlights potential complications in elderly patients with underlying neurological conditions.

A case report highlights the management of pregnancy-induced autoimmune hemolytic anemia using rituximab, providing insights into treatment efficacy during pregnancy. This narrative review contributes to understanding the complexities of autoimmune conditions in pregnant patients.

Recent research highlights the potential of platinum-based therapeutics as multi-modal radiosensitizers in glioblastoma treatment. This study suggests that these agents could enhance the efficacy of radiation therapy for patients with this aggressive brain tumor.

A multicenter international cohort study of HA20 has identified a novel genetic architecture and insights into phenotypic evolution. This research contributes to the understanding of HA20, potentially guiding future therapeutic strategies.

A systematic review and meta-analysis investigates the association between semaglutide and the risk of non-arteritic ischemic optic neuropathy. The findings contribute to understanding the safety profile of this medication in patients.

A systematic review and meta-analysis evaluates the comparative efficacy, immune response, and safety of mRNA vaccines versus dendritic cell vaccines in treating solid tumors. The findings contribute to understanding vaccine strategies in oncology.

The Journal of Human Immunity is expanding its focus on human immunology, which may lead to new insights and advancements in understanding immune-related rare diseases. This initiative aims to enhance research dissemination in the field.

Research identifies MST1 as a promoter of microglial pyroptosis and neuroinflammation in Alzheimer's disease through the DPP8/NLRP1/Caspase-1/GSDMD-N axis. This discovery could lead to new therapeutic targets for managing neuroinflammation in Alzheimer's.

A recent publication discusses clinical support and education initiatives for muscle diseases in Japan and other Asian regions. The findings highlight the importance of tailored educational programs to improve patient care and outcomes.

A rare case study highlights a lung abscess caused by Mycoplasma pneumoniae in an adult suffering from chronic obstructive pulmonary disease. This finding contributes to the understanding of atypical infections in patients with pre-existing respiratory conditions.

A recent study highlights the clinical usefulness of genetic diagnosis in early-onset cardiomyopathies, emphasizing its potential to improve patient management and outcomes. The findings support the integration of genetic testing in clinical practice for these conditions.

Not rare diseases news,
news about your rare disease.