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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

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Research

A large community hospital study evaluates the diagnostic yield of inpatient stress testing following negative serial troponin tests. The findings contribute to understanding the effectiveness of stress testing in clinical practice.

real world diagnostic yield of inpatient stress testing after negative serial troponins a large community hospital cohort study

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

Original title: “Real-world diagnostic yield of inpatient stress testing after negative serial troponins: A large community hospital cohort study.”

primary sclerosing cholangitis sclerosing cholangitisResearch

A recent publication discusses the potential of fibrate therapy in treating primary sclerosing cholangitis. This response adds to the ongoing research in managing this rare liver disease.

author s reply fibrate therapy in primary sclerosing cholangitis

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

Original title: “Author's reply: "Fibrate therapy in primary sclerosing cholangitis".”

congenital heart defects, multiple typesResearch

A new study discusses the use of multimodality imaging techniques for the clinical management of congenital heart defects, specifically focusing on the 'topsy-turvy heart' condition. This research highlights advancements in prenatal and postnatal imaging that could improve patient outcomes.

topsy turvy heart multimodality prenatal and postnatal imaging for clinical management

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

Original title: “Topsy-Turvy Heart: Multimodality Prenatal and Postnatal Imaging for Clinical Management.”

Research

A single-center retrospective study evaluates the efficacy and safety of a tyrosine kinase inhibitor combined with a venetoclax-based regimen in pediatric patients with chronic myeloid leukemia in the blast phase. The findings contribute to understanding treatment options for this challenging condition.

efficacy and safety of tyrosine kinase inhibitor combined with venetoclax based regimen in pediatric patients with chronic myeloid leukemia in the blast phase a single center retrospective study

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

Original title: “Efficacy and Safety of Tyrosine Kinase Inhibitor Combined With Venetoclax-Based Regimen in Pediatric Patients With Chronic Myeloid Leukemia in the Blast Phase: A Single-Center Retrospective Study.”

classic stiff person syndrome focal stiff limb syndromeResearch

A recent study investigates exteroceptive reflexes in patients with stiff person syndrome compared to other neurological conditions and healthy controls. This research may provide insights into the underlying mechanisms of reflex responses in rare neurological disorders.

exteroceptive reflexes in stiff person syndrome other neurological conditions and healthy controls

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

Original title: “Exteroceptive Reflexes in Stiff Person Syndrome, Other Neurological Conditions and Healthy Controls.”

tetralogy of fallot tetralogy of fallot and glaucomaResearch

A recent study investigates the three-dimensional shape and function of the right ventricle in patients with Tetralogy of Fallot. This research could enhance understanding of cardiac anomalies and inform future treatment strategies.

exploring three dimensional right ventricular shape and function in tetralogy of fallot patients

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

Original title: “Exploring three-dimensional right ventricular shape and function in Tetralogy of Fallot patients.”

isolated growth hormone deficiency type IBResearch

A case-based review highlights the relationship between paediatric sellar mature teratoma and isolated growth hormone deficiency. This study contributes to the understanding of rare teratomas and their potential endocrine implications in children.

paediatric sellar mature teratoma with isolated growth hormone deficiency a case based review

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

Original title: “Paediatric sellar mature teratoma with isolated growth hormone deficiency - A case-based review.”

cerebellar ataxia cerebellar ataxia-ectodermal dysplasia syndrome+1 moreResearch

A recent literature review highlights key insights into neuropathic pain associated with CANVAS, a rare condition characterized by cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. The findings may inform future research and treatment strategies for affected patients.

uncovering neuropathic pain in canvas lessons from a case based literature review

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

Original title: “Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.”

Research

A new publication discusses the need for regulatory alignment on surrogate endpoints in slowly progressive ultra-rare neurological diseases. This work aims to bridge the gap between biomarker science and global regulatory acceptance, potentially influencing future clinical trial designs.

regulatory alignment on surrogate endpoints for slowly progressive ultra rare neurological diseases bridging the gap between biomarker science and global regulatory acceptance

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

Original title: “Regulatory Alignment on Surrogate Endpoints for Slowly Progressive Ultra-Rare Neurological Diseases: Bridging the Gap Between Biomarker Science and Global Regulatory Acceptance.”

Andersen-Tawil syndromeResearch

A case study highlights atypical Andersen-Tawil syndrome in an asymptomatic child presenting with bidirectional ventricular tachycardia and early signs of tachycardiomyopathy. This research contributes to understanding the clinical spectrum of this rare genetic condition.

atypical andersen tawil syndrome in an asymptomatic child with bidirectional ventricular tachycardia and incipient tachycardiomyopathy

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

Original title: “Atypical Andersen-Tawil Syndrome in an Asymptomatic Child With Bidirectional Ventricular Tachycardia and Incipient Tachycardiomyopathy.”

pulmonary hypertension pulmonary hypertension, primary, 6+1 moreResearch

A recent study published in PubMed explores the ECG evolution in patients with severe pulmonary hypertension, highlighting the phenomenon of pseudo-infarction reversal in right precordial leads. This research could enhance diagnostic accuracy and understanding of cardiac manifestations in pulmonary hypertension.

pseudo infarction reversal in right precordial leads ecg evolution in severe pulmonary hypertension

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

Original title: “Pseudo-Infarction Reversal in Right Precordial Leads: ECG Evolution in Severe Pulmonary Hypertension.”

ST-elevation myocardial infarctionResearch

A recent study highlights atrial repolarization as a rare condition that can mimic ST-segment elevation myocardial infarction. This discovery could impact diagnostic approaches in cardiology.

atrial repolarization as a rare mimicker of st segment elevation myocardial infarction revisiting t a

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

Original title: “Atrial Repolarization as a Rare Mimicker of ST-Segment Elevation Myocardial Infarction: Revisiting T(a).”

liver cancerResearch

New research decodes tumor-associated autoantibodies in liver cancer, exploring their mechanisms and potential clinical applications. This study may enhance detection methods for liver cancer, providing insights into patient management.

decoding tumor associated autoantibodies in liver cancer mechanisms clinical applications and detection methods

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

Original title: “Decoding tumor-associated autoantibodies in liver cancer: Mechanisms, clinical applications, and detection methods.”

cone dystrophy achromatopsia+1 moreResearch

A study highlights progressive cone dystrophy linked to PDE6C-associated achromatopsia, identifying a likely pathogenic variant and a variant of uncertain significance. This research contributes to understanding the genetic underpinnings of visual disorders.

progressive cone dystrophy in pde6c associated achromatopsia with a likely pathogenic variant and a vus

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

Original title: “Progressive cone dystrophy in PDE6C-associated achromatopsia with a likely pathogenic variant and a VUS.”

Research

A narrative synthesis of 317 qualitative studies from 2004 to 2024 highlights the lived experiences of patients with rare genetic diseases. This comprehensive review provides valuable insights into patient perspectives and challenges faced in managing these conditions.

lived experiences in rare genetic diseases a narrative synthesis of 317 qualitative studies 2004 2024

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

Original title: “Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).”

paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria 1+1 moreResearch

A recent case series from Kenya highlights the clinical characteristics of patients with paroxysmal nocturnal hemoglobinuria, expanding the understanding of haemolytic anaemia beyond sickle cell disease. This research contributes valuable insights into the management of this rare condition.

haemolytic anaemia beyond sickle cell anaemia a case series of patients with paroxysmal nocturnal haemoglobinuria in kenya

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

Original title: “Haemolytic Anaemia; Beyond Sickle Cell Anaemia: A Case Series of Patients With Paroxysmal Nocturnal Haemoglobinuria in Kenya.”

melanotic neuroectodermal tumorResearch

A consensus expert group has published clinical guidance for managing melanotic neuroectodermal tumor of infancy. This guidance aims to standardize treatment approaches for this rare pediatric tumor.

clinical guidance for the management of melanotic neuroectodermal tumor of infancy a consensus by the expert group

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

Original title: “Clinical Guidance for the Management of Melanotic Neuroectodermal Tumor of Infancy-A Consensus by the Expert Group.”

progressive multifocal leukoencephalopathyResearch

A case report highlights a rare progressive cavitary lesion associated with progressive multifocal leukoencephalopathy (PML). This finding contributes to the understanding of PML's pathology and may inform future research directions.

case report rare progressive cavitary lesion in progressive multifocal leukoencephalopathy

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

Original title: “Case report: rare progressive cavitary lesion in progressive multifocal leukoencephalopathy.”

Research

A recent study published in PubMed explores idiopathic 2:1 AV block accompanied by ventriculophasic sinus arrhythmia in a young male. This research contributes to the understanding of rare cardiac arrhythmias.

idiopathic 2 1 av block with ventriculophasic sinus arrhythmia in a young male

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

Original title: “Idiopathic 2:1 AV Block With Ventriculophasic Sinus Arrhythmia in a Young Male.”

hypertrophic cardiomyopathy hypertrophic cardiomyopathy 9+1 moreResearch

A recent study highlights midventricular hypertrophic cardiomyopathy with apical aneurysm, which can present as persistent ST-segment elevation, potentially mimicking acute myocardial infarction. This discovery emphasizes the need for accurate diagnosis in similar clinical presentations.

midventricular hypertrophic cardiomyopathy with apical aneurysm presenting as persistent st segment elevation mimicking acute myocardial infarction

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

Original title: “Midventricular Hypertrophic Cardiomyopathy With Apical Aneurysm Presenting as Persistent ST-Segment Elevation Mimicking Acute Myocardial Infarction.”

Previous201 / 484Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A large community hospital study evaluates the diagnostic yield of inpatient stress testing following negative serial troponin tests. The findings contribute to understanding the effectiveness of stress testing in clinical practice.

A recent publication discusses the potential of fibrate therapy in treating primary sclerosing cholangitis. This response adds to the ongoing research in managing this rare liver disease.

A new study discusses the use of multimodality imaging techniques for the clinical management of congenital heart defects, specifically focusing on the 'topsy-turvy heart' condition. This research highlights advancements in prenatal and postnatal imaging that could improve patient outcomes.

A recent study investigates exteroceptive reflexes in patients with stiff person syndrome compared to other neurological conditions and healthy controls. This research may provide insights into the underlying mechanisms of reflex responses in rare neurological disorders.

A recent study investigates the three-dimensional shape and function of the right ventricle in patients with Tetralogy of Fallot. This research could enhance understanding of cardiac anomalies and inform future treatment strategies.

A case-based review highlights the relationship between paediatric sellar mature teratoma and isolated growth hormone deficiency. This study contributes to the understanding of rare teratomas and their potential endocrine implications in children.

A recent literature review highlights key insights into neuropathic pain associated with CANVAS, a rare condition characterized by cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. The findings may inform future research and treatment strategies for affected patients.

A new publication discusses the need for regulatory alignment on surrogate endpoints in slowly progressive ultra-rare neurological diseases. This work aims to bridge the gap between biomarker science and global regulatory acceptance, potentially influencing future clinical trial designs.

A case study highlights atypical Andersen-Tawil syndrome in an asymptomatic child presenting with bidirectional ventricular tachycardia and early signs of tachycardiomyopathy. This research contributes to understanding the clinical spectrum of this rare genetic condition.

A recent study highlights atrial repolarization as a rare condition that can mimic ST-segment elevation myocardial infarction. This discovery could impact diagnostic approaches in cardiology.

New research decodes tumor-associated autoantibodies in liver cancer, exploring their mechanisms and potential clinical applications. This study may enhance detection methods for liver cancer, providing insights into patient management.

A study highlights progressive cone dystrophy linked to PDE6C-associated achromatopsia, identifying a likely pathogenic variant and a variant of uncertain significance. This research contributes to understanding the genetic underpinnings of visual disorders.

A narrative synthesis of 317 qualitative studies from 2004 to 2024 highlights the lived experiences of patients with rare genetic diseases. This comprehensive review provides valuable insights into patient perspectives and challenges faced in managing these conditions.

A recent case series from Kenya highlights the clinical characteristics of patients with paroxysmal nocturnal hemoglobinuria, expanding the understanding of haemolytic anaemia beyond sickle cell disease. This research contributes valuable insights into the management of this rare condition.

A consensus expert group has published clinical guidance for managing melanotic neuroectodermal tumor of infancy. This guidance aims to standardize treatment approaches for this rare pediatric tumor.

A case report highlights a rare progressive cavitary lesion associated with progressive multifocal leukoencephalopathy (PML). This finding contributes to the understanding of PML's pathology and may inform future research directions.

A recent study published in PubMed explores idiopathic 2:1 AV block accompanied by ventriculophasic sinus arrhythmia in a young male. This research contributes to the understanding of rare cardiac arrhythmias.

A recent study highlights midventricular hypertrophic cardiomyopathy with apical aneurysm, which can present as persistent ST-segment elevation, potentially mimicking acute myocardial infarction. This discovery emphasizes the need for accurate diagnosis in similar clinical presentations.

Not rare diseases news,
news about your rare disease.