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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
PurposeNGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1)...
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The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes
PurposeThis study aimed to investigate the correlation between chromosomal abnormalities in spontaneous abortion with clinical features and seek copy...
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A Retrospective Analysis of 129 Ameloblastoma Cases: Clinical and Demographical Trends from a Single Institution
Ameloblastomas are benign neoplasms of the jaw, but frequently require extensive surgery. The aim of the study was to analyze the demographic and...
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Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with...
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
CSF1R mutations cause autosomal-dominant CSF1R -related leukoencephalopathy with axonal spheroids and pigmented glia ( CSF1R -ALSP) and...
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Gender differences in estimated excess mortality during the COVID-19 pandemic in Thailand
BackgroundThere is a limited body of research specifically examining gender inequality in excess mortality and its variations across age groups and...
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Unexplained bacterial meat spoilage during the moose hunting in northern Norway – a review of cases 2008–2021
BackgroundSudden and unexpected spoilage of moose ( Alces alces ) carcasses has incidentally been reported in northern Norway. Hunters describe a...
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Incidental pulmonary embolism in patients with cancer: prevalence, underdiagnosis and evaluation of an AI algorithm for automatic detection of pulmonary embolism
ObjectivesTo assess the prevalence of reported and unreported incidental pulmonary embolism (iPE) in patients with cancer, and to evaluate an...
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Reconstructing the early global dynamics of under-ascertained COVID-19 cases and infections
BackgroundAsymptomatic or subclinical SARS-CoV-2 infections are often unreported, which means that confirmed case counts may not accurately reflect...
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Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants
Background/ObjectivesMelanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have...
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Are populations of postpartum women differentially served by community health worker programs: an observational cohort study from Zanzibar, Tanzania
BackgroundAlthough community health worker (CHW) programs focus on improving access to healthcare, some individuals may not receive the intended...
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Global Radiomic Features from Mammography for Predicting Difficult-To-Interpret Normal Cases
This work aimed to investigate whether global radiomic features (GRFs) from mammograms can predict difficult-to-interpret normal cases (NCs)....
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Reporting of older subgroups in registration breast cancer trials 2012–2021
IntroductionAdequate reporting of data specific to older populations enrolled to breast cancer trials is critical, given the high incidence of the...
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Saturated fat, the estimated absolute risk and certainty of risk for mortality and major cancer and cardiometabolic outcomes: an overview of systematic reviews
ObjectiveTo assess the impact of reducing saturated fat or fatty foods, or replacing saturated fat with unsaturated fat, carbohydrate or protein, on...
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Removal rate of 5-fluorouracil and its metabolites in patients on hemodialysis: a report of two cases of colorectal cancer patients with end-stage renal failure
PurposeHyperammonemia is a serious adverse effect of 5-fluorouracil (5FU) administration. Hemodialysis can be used for its management, but detailed...
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Estimating case fatality risk of severe Yellow Fever cases: systematic literature review and meta-analysis
BackgroundCase fatality risk (CFR), commonly referred to as a case fatality ratio or rate, represents the probability of a disease case being fatal....
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Age-specific rate of severe and critical SARS-CoV-2 infections estimated with multi-country seroprevalence studies
BackgroundKnowing the age-specific rates at which individuals infected with SARS-CoV-2 develop severe and critical disease is essential for designing...
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Reducing dengue fever cases at the lowest budget: a constrained optimization approach applied to Thailand
BackgroundWith the challenges that dengue fever (DF) presents to healthcare systems and societies, public health officials must determine where best...
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Evaluation of undetected cases during the COVID-19 epidemic in Austria
BackgroundKnowing the number of undetected cases of COVID-19 is important for a better understanding of the spread of the disease. This study...
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The effect of clinical pharmacists’ intervention in adverse drug reaction reporting: a retrospective analysis with a 9-year interrupted time series
BackgroundIn China, 85.4% of adverse drug reactions (ADRs) are spontaneously reported by healthcare facilities. As a result, many ADRs are not...
