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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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sickle cell disease sickle cell-hemoglobin d disease syndrome+1 moreResearch

A case series highlights Bordetella holmesii bacteremia in children with sickle cell disease, expanding the understanding of infections in this vulnerable population. The study reviews existing literature, emphasizing the need for awareness among healthcare providers.

beyond pertussis bordetella holmesii bacteremia in children with sickle cell disease a case series with literature review

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Beyond Pertussis: Bordetella holmesii Bacteremia in Children With Sickle Cell Disease: A Case Series with Literature Review.”

limb-girdle muscular dystrophyResearch

A national cohort study highlights the association between limb girdle muscular dystrophy and TRIM32 gene variants. This research contributes to the understanding of genetic factors in limb girdle muscular dystrophy.

limb girdle muscular dystrophy associated with trim32 variants a national cohort study

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.”

malaria Plasmodium vivax malariaResearch

A study on the RTS,S/AS01(E) malaria vaccine highlights safety monitoring experiences from Ghana, Kenya, and Malawi. The findings contribute to understanding the vaccine's safety profile in routine pharmacovigilance settings.

safety monitoring of the rts s as01 e malaria vaccine experiences and lessons from routine pharmacovigilance in ghana kenya and malawi

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Safety monitoring of the RTS,S/AS01(E) malaria vaccine: experiences and lessons from routine pharmacovigilance in Ghana, Kenya, and Malawi.”

Fabry disease monoclonal gammopathy of uncertain significance+1 moreResearch

A recent case report highlights the concurrent occurrence of Fabry disease and monoclonal gammopathy of renal significance, providing insights into the complexities of diagnosing and managing these conditions together. This study may inform future research and clinical practices regarding rare disease interactions.

concurrent fabry disease and monoclonal gammopathy of renal significance a case report

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report.”

Wilson diseaseResearch

A recent study evaluates the quality and reliability of videos on Wilson disease across popular Chinese platforms Bilibili, Douyin, and Kuaishou. This cross-sectional analysis highlights the need for improved educational resources regarding this rare condition.

cross sectional analysis of the quality and reliability of wilson disease videos on bilibili douyin and kuaishou

PubMed Rare Disease·7 months ago·Read at source →

Original title: “A cross-sectional analysis of the quality and reliability of Wilson disease videos on Bilibili, Douyin, and Kuaishou.”

B-cell acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemiaResearch

A study characterizes 34 cases of TCF3::HLF-positive B-cell acute lymphoblastic leukemia (B-ALL), providing insights into its clinical and molecular features. This research enhances understanding of this rare leukemia subtype.

tcf3 hlf positive b all integrated clinical and molecular characterization of 34 cases from a single center cohort

PubMed Rare Disease·7 months ago·Read at source →

Original title: “TCF3::HLF-positive B-ALL: integrated clinical and molecular characterization of 34 cases from a single-center cohort.”

Research

A recent study published in PubMed highlights the real-world effectiveness of burosumab in treating X-linked hypophosphatemia (XLH) across various age groups. The findings contribute valuable insights into disease management and treatment outcomes for patients with XLH.

real world effectiveness of burosumab across age groups x linked hypophosphatemia xlh disease monitoring program

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Real-world Effectiveness of Burosumab Across Age Groups: X-linked Hypophosphatemia (XLH) Disease Monitoring Program.”

Research

A study highlights the subhepatic gallbladder as an extremely rare anatomical variant that poses challenges for laparoscopic surgeons. This discovery may impact surgical approaches and patient outcomes in gallbladder procedures.

subhepatic gallbladder an extremely rare anatomical variant challenging the laparoscopic surgeon

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Subhepatic gallbladder: an extremely rare anatomical variant challenging the laparoscopic surgeon.”

melioidosisResearch

A recent study highlights the clinical manifestations of Burkholderia pseudomallei ST271 infection, specifically rapid cavitary pneumonia and reversible hepatic injury. This research contributes to the understanding of the disease's impact on patient health.

rapid cavitary pneumonia and reversible hepatic injury in burkholderia pseudomallei st271 infection

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Rapid Cavitary Pneumonia and Reversible Hepatic Injury in Burkholderia pseudomallei ST271 Infection.”

syphilis latent syphilis+1 moreResearch

A national survey reveals current practices in emergency departments regarding syphilis screening and sexually transmitted infection testing and treatment. The findings highlight the need for improved protocols to enhance patient care.

national survey of emergency department syphilis screening and sexually transmitted infection testing and treatment practices

PubMed Rare Disease·7 months ago·Read at source →

Original title: “A national survey of emergency department syphilis screening and sexually transmitted infection testing and treatment practices.”

Research

A rare cytogenetic finding in chronic myeloid leukemia (CML) has been reported, involving an acquired pericentric inversion of der(9) with BCR and ABL1 codeletion. This discovery adds to the understanding of genetic variations in CML.

acquired pericentric inversion of der 9 with bcr and abl1 codeletion in chronic myeloid leukemia a rare cytogenetic finding from mali

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali.”

jejunal adenocarcinomaResearch

A case report details a rare instance of jejunal adenocarcinoma with isolated mesorectal metastasis, contributing to the understanding of this uncommon cancer type. This report may provide insights for future research and clinical considerations.

jejunal adenocarcinoma with isolated mesorectal metastasis a case report of a rare entity

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Jejunal adenocarcinoma with isolated mesorectal metastasis: a case report of a rare entity.”

hereditary breast carcinomaResearch

A new study investigates rare non-coding variants in the BRCA1, BRCA2, and PALB2 genes and their contribution to hereditary breast cancer. This research could enhance understanding of genetic risk factors associated with this disease.

investigating the contribution of rare non coding variants in brca1 brca2 and palb2 to hereditary breast cancer

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer.”

Research

A new study explores circulating immune profiles in patients with ACTH-dependent Cushing's syndrome, providing insights into the immune response associated with this condition. The findings may inform future therapeutic strategies for managing this rare disease.

circulating immune profiles in acth dependent cushing s syndrome

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Circulating Immune Profiles in ACTH-Dependent Cushing's Syndrome.”

Research

A recent cross-sectional study highlights ophthalmological abnormalities associated with both syndromic and non-syndromic epidermal differentiation disorders. This research contributes to understanding the broader implications of these disorders on eye health.

ophthalmological abnormalities in syndromic or non syndromic epidermal differentiation disorders a cross sectional study

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Ophthalmological Abnormalities in syndromic or non-syndromic Epidermal Differentiation Disorders: a cross-sectional study.”

malignant germ cell tumor of ovary malignant dysgerminomatous germ cell tumor of ovary+1 moreResearch

A recent study evaluates the outcomes of pediatric and adolescent girls with malignant ovarian germ cell tumors following chemotherapy and surgery. The findings contribute to understanding treatment efficacy and patient prognosis in this rare cancer population.

outcomes of pediatric and adolescent girls with malignant ovarian germ cell tumors after chemotherapy and surgery a single institutional experience

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Outcomes of Pediatric and Adolescent Girls with Malignant Ovarian Germ Cell Tumors after Chemotherapy and Surgery: A Single Institutional Experience.”

Research

A recent analysis of the ACCESS randomized trial reveals molecular pathways that enhance the efficacy of clarithromycin in treating community-acquired pneumonia. This study provides insights into the drug's mechanism, potentially guiding future therapeutic strategies.

molecular pathways driving clarithromycin benefit in community acquired pneumonia analysis of the access randomised trial

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Molecular pathways driving clarithromycin benefit in community-acquired pneumonia: analysis of the ACCESS randomised trial.”

HIV-associated nephropathy HIV wasting syndrome+1 moreResearch

A recent study evaluates the cost-effectiveness of efavirenz at 600 mg versus 400 mg for individuals living with HIV in China. The findings contribute to understanding treatment options and economic implications for HIV management.

cost effectiveness of efavirenz 600 mg vs 400 mg in people living with hiv in china

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Cost-effectiveness of efavirenz 600 mg vs. 400 mg in people living with HIV in China.”

multifocal motor neuropathyResearch

A recent claims-based analysis provides insights into the epidemiology, patient characteristics, and treatment patterns for multifocal motor neuropathy in the US. The study highlights healthcare utilization and spending trends, contributing valuable data for understanding this rare disease.

epidemiology patient characteristics real world treatment patterns and healthcare utilization and spending for patients with multifocal motor neuropathy a us claims based analysis

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Epidemiology, Patient Characteristics, Real-World Treatment Patterns, and Healthcare Utilization and Spending for Patients with Multifocal Motor Neuropathy: A US Claims-Based Analysis.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

A multicenter French study investigates the role of alpha-1 antitrypsin deficiency alleles in non-cirrhotic hepatocellular carcinoma. The findings contribute to understanding the genetic factors influencing this cancer type.

alpha 1 antitrypsin deficiency alleles in non cirrhotic hepatocellular carcinoma insights from a multicenter french cohort

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort.”

Previous380 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case series highlights Bordetella holmesii bacteremia in children with sickle cell disease, expanding the understanding of infections in this vulnerable population. The study reviews existing literature, emphasizing the need for awareness among healthcare providers.

A national cohort study highlights the association between limb girdle muscular dystrophy and TRIM32 gene variants. This research contributes to the understanding of genetic factors in limb girdle muscular dystrophy.

A study on the RTS,S/AS01(E) malaria vaccine highlights safety monitoring experiences from Ghana, Kenya, and Malawi. The findings contribute to understanding the vaccine's safety profile in routine pharmacovigilance settings.

A recent study evaluates the quality and reliability of videos on Wilson disease across popular Chinese platforms Bilibili, Douyin, and Kuaishou. This cross-sectional analysis highlights the need for improved educational resources regarding this rare condition.

A study characterizes 34 cases of TCF3::HLF-positive B-cell acute lymphoblastic leukemia (B-ALL), providing insights into its clinical and molecular features. This research enhances understanding of this rare leukemia subtype.

A recent study published in PubMed highlights the real-world effectiveness of burosumab in treating X-linked hypophosphatemia (XLH) across various age groups. The findings contribute valuable insights into disease management and treatment outcomes for patients with XLH.

A study highlights the subhepatic gallbladder as an extremely rare anatomical variant that poses challenges for laparoscopic surgeons. This discovery may impact surgical approaches and patient outcomes in gallbladder procedures.

A recent study highlights the clinical manifestations of Burkholderia pseudomallei ST271 infection, specifically rapid cavitary pneumonia and reversible hepatic injury. This research contributes to the understanding of the disease's impact on patient health.

A national survey reveals current practices in emergency departments regarding syphilis screening and sexually transmitted infection testing and treatment. The findings highlight the need for improved protocols to enhance patient care.

A rare cytogenetic finding in chronic myeloid leukemia (CML) has been reported, involving an acquired pericentric inversion of der(9) with BCR and ABL1 codeletion. This discovery adds to the understanding of genetic variations in CML.

A case report details a rare instance of jejunal adenocarcinoma with isolated mesorectal metastasis, contributing to the understanding of this uncommon cancer type. This report may provide insights for future research and clinical considerations.

A new study investigates rare non-coding variants in the BRCA1, BRCA2, and PALB2 genes and their contribution to hereditary breast cancer. This research could enhance understanding of genetic risk factors associated with this disease.

A new study explores circulating immune profiles in patients with ACTH-dependent Cushing's syndrome, providing insights into the immune response associated with this condition. The findings may inform future therapeutic strategies for managing this rare disease.

A recent cross-sectional study highlights ophthalmological abnormalities associated with both syndromic and non-syndromic epidermal differentiation disorders. This research contributes to understanding the broader implications of these disorders on eye health.

A recent study evaluates the outcomes of pediatric and adolescent girls with malignant ovarian germ cell tumors following chemotherapy and surgery. The findings contribute to understanding treatment efficacy and patient prognosis in this rare cancer population.

A recent analysis of the ACCESS randomized trial reveals molecular pathways that enhance the efficacy of clarithromycin in treating community-acquired pneumonia. This study provides insights into the drug's mechanism, potentially guiding future therapeutic strategies.

A recent study evaluates the cost-effectiveness of efavirenz at 600 mg versus 400 mg for individuals living with HIV in China. The findings contribute to understanding treatment options and economic implications for HIV management.

A recent claims-based analysis provides insights into the epidemiology, patient characteristics, and treatment patterns for multifocal motor neuropathy in the US. The study highlights healthcare utilization and spending trends, contributing valuable data for understanding this rare disease.

A multicenter French study investigates the role of alpha-1 antitrypsin deficiency alleles in non-cirrhotic hepatocellular carcinoma. The findings contribute to understanding the genetic factors influencing this cancer type.

Not rare diseases news,
news about your rare disease.