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Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study
IntroductionMyotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy....
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Enhanced cancer cell proliferation and aggressive phenotype counterbalance in breast cancer with high BRCA1 gene expression
PurposeWhile comprehensive research exists on the mutation of the DNA repair gene BRCA1 , limited information is available regarding the clinical...
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Endoscopic ultrasound-guided hepaticogastrostomy vs. antegrade metal stent placement kee** an access route in patients with malignant biliary obstruction
BackgroundFew studies have compared endoscopic ultrasound (EUS)-guided hepaticogastrostomy (HGS) with EUS-guided antegrade metal stent placement...
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Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
BackgroundMenkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age...
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Normal ovarian sizes on MRI in pediatric patients: a preliminary study
BackgroundOvarian enlargement is one of several findings of pathology, including ovarian torsion. With increasing use of MRI for acute abdominal pain...
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DNMT3A-R882: a mutation with many paradoxes
Understanding the underlying mechanism of acute myeloid leukemia (AML) has led to the discovery of novel biomarkers to help predict, treat and...
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Guideline “Parkinson’s disease” of the German Society of Neurology (Deutsche Gesellschaft für Neurologie): concepts of care
IntroductionIn 2023, the German Society of Neurology published a new guideline on Parkinson’s disease. An important section dealt with PD care...
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Deciphering glutamine metabolism patterns for malignancy and tumor microenvironment in clear cell renal cell carcinoma
Clear cell renal cell carcinoma (ccRCC) is the most common subtype of kidney cancer characterized by metabolic reprogramming. Glutamine metabolism is...
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Elevated plasma neurofilament light was associated with multi-modal neuroimaging features in Alzheimer’s disease signature regions and predicted future tau deposition
BackgroundNeurofilament Light (NfL) is a biomarker for early neurodegeneration in Alzheimer’s disease (AD). This study aims to examine the...
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Factors related to accurate clinicians’ prediction of survival: an international multicenter study in East Asia
PurposeRecent guidelines for prognostic evaluation recommend clinicians’ prediction of survival (CPS) for survival prediction in patients with...
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Homoharringtonine may help improve the outcomes of venetoclax and azacitidine in AML1-ETO positive acute myeloid leukemia
PurposeT(8;21)(q22;q22.1)/AML1-ETO positive acute myeloid leukemia (AE-AML) is sensitive to conventional chemotherapy with a favorable prognosis....
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WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients
Wilms tumor 1 ( WT1 ) gene mutations are infrequent in myelodysplastic syndrome (MDS), but MDS with WT1 mutations (WT1 mut ) is considered high risk for...
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Immunohistochemical Expression of Cyclin D1 and p16 in Invasive Breast Carcinoma and Its Association with Clinicopathological Parameters
Invasive breast cancer (IBC) is a significant health concern globally, contributing to substantial morbidity and mortality among women. Dysregulated...
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Exploring the thalamus L-sign: initial findings and associations with white matter injury in premature infants
BackgroundThe thalamus L-sign, characterized by damage to the lateral and posterior parts of the thalamus, has recently been identified as a...
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Novel Approaches to Managing Patients with Relapsed and Refractory Waldenström Macroglobulinemia
Purpose of ReviewWaldenström macroglobulinemia is a rare non-Hodgkin lymphoma (NHL) characterized by lymphoplasmacytic bone marrow infiltration...
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Feasibility and success of a non-sedated brain MRI training protocol in 7-year-old children from rural and semi-rural Colombia
BackgroundBrain magnetic resonance imaging (MRI) is a crucial tool for clinical evaluation of the brain and neuroscience research. Obtaining...
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Targeting Neurotransmitter Systems in Bipolar Disorder: A comprehensive Review of novel pharmacological approaches
Purpose of ReviewTo critically assess the efficacy of novel pharmacological interventions in managing manic or hypomanic episodes in adult patients...
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Successful treatment with efgartigimod as an add-on therapy in acute attack of anti-AQP4 antibody-positive NMOSD: a case report
BackgroundNeuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune demyelinating disease characterized by recurrent myelitis and optic...
