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CRISPR editing of the PPARGC1A Gly482ser (rs8192678) polymorphism in human white adipose cells shows differential effects on mitochondrial function and adipogenesis.

Background and aims: PPARGC1A encodes PGC-1α (peroxisome proliferator-activated receptor γ coactivator 1-α), a central regulator of energy metabolism and mitochondrial function. A common polymorphism in PPARGC1A (rs8192678, C/T, Gly482Ser) has been associated with obesity and related metabolic disorders, but no published functional studies have investigated direct allele-specific effects in adipoc

Diet and lifestyle behaviour disruption related to the pandemic was varied and bidirectional among US and UK adults participating in the ZOE COVID Study

Evidence of the impact of the COVID-19 pandemic on health behaviours in the general population is limited. In this retrospective longitudinal study including UK and US participants, we collected diet and lifestyle data pre-pandemic (896,286) and peri-pandemic (291,871) using a mobile health app, and we computed a bidirectional health behaviour disruption index. Disruption of health behaviour was h

Metabolic resilience is encoded in genome plasticity

Metabolism plays a central role in evolution, as resource conservation is a selective pressure for fitness and survival.Resource-driven adaptations offer a good model to study evolutionary innovation more broadly. It remains unknown howresource-driven optimization of genome function integrates chromatin architecture with transcriptional phase transitions.Here we show that tuning of genome architec

Metabolic factors and bladder cancer risk and mortality. Studies to approach causal associations and interactions with smoking and genetic variants.

Urothelial bladder cancer (BC) is one of the most common cancers in developed countries. It has one of the highest recurrence rates among solid tumors, resulting in regular treatment and follow-up, making it one of the most expensive cancers to treat, and a significant public health burden. Derangement of metabolic factors such as body mass index (BMI), blood pressure (BP), glucose, triglycerides

Influence of diabetes on diagnostic performance of computed tomography angiography of the calf arteries in acute limb ischemia

Background: Patients with diabetes mellitus (DM) have a more extensive distal arterial occlusive disease compared to non-diabetic patients. Diagnostic imaging is a necessity to identify the location and extent of the arterial occlusion in acute limb ischemia (ALI). Computed tomography angiography (CTA) is the most commonly used modality and the diagnostic performance with CTA of calf arteries may

Methotrexate reduces circulating Th17 cells and impairs plasmablast and memory B cell expansions following pneumococcal conjugate immunization in RA patients

Methotrexate (MTX) impairs antibody response after pneumococcal vaccination. We aimed to investigate differences in phenotypes of circulating B and T cells after pneumococcal conjugate vaccine (PCV) in rheumatoid arthritis (RA) patients on MTX (MTX group), RA without disease-modifying drugs (0DMARD), and controls (HC). MTX group (n = 11), 0DMARD (n = 12) and HC (n = 13) were studied. Blood samples

A comparison of complementary measures of vitamin B6 status, function, and metabolism in the European Prospective Investigation into Cancer and Nutrition (EPIC) study

Background: Vitamin B6 insufficiency has been linked to increased risk of cancer and other chronic diseases. The circulating concentration of pyridoxal 5-phosphate (PLP) is a commonly used measure of vitamin B6 status. Ratios of substrates indicating PLP coenzymatic function and metabolism may be useful complementary measures to further explore the role of vitamin B6 in health. Objectives: We expl

Experience of the COVID-19 pandemic as lived by patients with hip and knee osteoarthritis : an Italian qualitative study

OBJECTIVE: To examine the experience of the COVID-19 pandemic as lived by people with hip and knee osteoarthritis (OA), in Italy.DESIGN: A qualitative study based on semi-structured interviews.SETTING: Urban and suburban areas in northern Italy.PARTICIPANTS: A total of 11 people with OA were enrolled through a purposeful sampling and completed the study.PRIMARY OUTCOME MEASURE: The experience of I

The Cromer blood group system : an update

This update of the Cromer (CROM) blood group system (Storry JR, Reid ME, Yazer MH. The Cromer blood group system: a review. Immunohematology 2010;26:109–17) includes additional variants to the Cromer system (ISBT021), both new antigens and new molecular bases underlying the null phenotype. The molecule on which the Cromer blood group antigens are carried, CD55 (DAF), is an important receptor for t

25(OH)D Levels in Infancy Is Associated With Celiac Disease Autoimmunity in At-Risk Children : A Case–Control Study

Objectives: An observed variation in the risk of celiac disease, according to the season of birth, suggests that vitamin D may affect the development of the disease. The aim of this study was to investigate if vitamin D concentration is associated with the risk of celiac disease autoimmunity (CDA) in genetically at-risk children. Study Design: Children prospectively followed in the multinational T

The experience of provided information and care during pregnancy and postpartum when diagnosed with preeclampsia : A qualitative study

INTRODUCTION Despite preeclampsia being one of the most severe obstetrical complications there is only scant research describing women's experiences of preeclampsia. The aim of this study was to explore women's experience during pregnancy and the postpartum period regarding the provided information and care concerning preeclampsia. METHODS A qualitative study was designed. Semi-structured face-to-

Functional Antibodies Against SARS-CoV-2 Receptor Binding Domain Variants with Mutations N501Y or E484K in Human Milk from COVID-19-Vaccinated, -Recovered, and -Unvaccinated Women

Background: New variants are evolving in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and receptor binding domain (RBD) mutations have been associated with a higher capacity to evade neutralizing antibodies (NAbs). We aimed at determining the impact of COVID-19 vaccine and infection on human milk antibody titers and activity against the RBD mutations from SARS-CoV-2 variants of co

Single Nucleotide Polymorphisms in Close Proximity to the Fibroblast Growth Factor 21 (FGF21) Gene Found to Be Associated with Sugar Intake in a Swedish Population

Hereditary mechanisms are partially responsible for individual differences in sensitivity to and the preference for sweet taste. The primary aim of this study was to examine the associations between 10 genetic variants and the intake of total sugar, added sugar, and sugars with sweet taste (i.e., monosaccharides and sucrose) in a middle-aged Swedish population. Two single nucleotide polymorphisms

The Influence of Level of Education on Instrumental Activities of Daily Living in Patients with Alzheimer’s Disease.

Background: According to the “brain-reserve hypothesis” in Alzheimer’s disease (AD), patients with more years of education are expected to have higher cognitive status during adulthood. Hence, they might have a relatively larger burden of AD pathology and a more advanced level of the disease when dementia is clinically evident. Higher educated people would also be expected to perform better on sta

Subcutaneous and submuscular transposition due to ulnar nerve entrapment at the elbow– Analyses of 43 primary and 44 revision cases

Objectives: Knowledge is scarce about the outcome of revision surgery for recurrent or persistent ulnar nerve entrapmentat the elbow (UNE). We studied the outcome of subcutaneous (SCT) and submuscular (SMT) ulnar nerve transpositionsdue to UNE, analyzing both primary and revision surgeries, aiming to identify predictors for revision surgery.Methods: All surgically treated UNE cases (2004-2008) at

alpha-synuclein: amyloid fibrils and interactions with lipid membranes

The second most common neurodegenerative disease, Parkinson’s disease, is linked with an amyloid forming protein, alpha-synuclein. Hallmarks of Parkinson’s disease are progressive loss of dopaminergic neurons and accumulation of intraneuronal inclusions termed Lewy bodies. Major components of Lewy bodies are amyloid fibrils formed by alpha-synuclein and various lipids and cell organelles. In this

Cerebrospinal Fluid Biomarker Levels as Markers for Nursing Home Placement and Survival Time in Alzheimer's Disease

BACKGROUND: Cerebrospinal fluid (CSF) biomarkers are associated with conversion from mild cognitive impairment to Alzheimer's disease (AD), but their predictive value for later end-points has been less evaluated with inconsistent results.OBJECTIVE: We investigated potential relationships between CSF amyloid-β1-42 (Aβ42), phosphorylated tau (P-tau), and total tau (T-tau) with time to nursing home p