A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene () are known to be responsible for about 50% of nemaline myopathy cases. Nebulin is a giant protein which is formed integrally with the sarcomeric thin filament.

Impact of Dairy Intake on Plasma F-IsoProstane Profiles in Overweight Subjects with Hyperinsulinemia: A Randomized Crossover Trial.

F-IsoProstanes (F-IsoPs) are major biomarkers of oxidative stress and are associated with type 2 diabetes (T2D). Further, plasma levels of F-IsoPs may be modified by dairy products. The aim is to investigate the effect of high dairy product (HD) consumption compared to an adequate dairy product (AD) consumption on the level of F-IsoPs among hyperinsulinemic subjects.

Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.

Background: Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients' and the general public's perspectives about disclosing genomic SFs and the modalities of such disclosure.

Methods: Sixty-one cancer patients (n = 29) and members of the public (n = 32) participated in eight focus groups in Montreal and Quebec City, Canada.

Prophylactic retromuscular mesh placement for parastomal hernia prevention: a retrospective cohort study of permanent colostomies and ileostomies.

Purpose: Parastomal hernia (PSH) is the most common complication of stoma formation. The safety and efficiency of prophylactically placing mesh to prevent PSH remain controversial. To address this question, we examined the incidence of clinical and radiological PSH when using parastomal prophylactic mesh (PPM).

Large birth size, infancy growth pattern, insulin resistance and β-cell function.

Objective: Large birth size programs an elevated risk of type 2 diabetes in adulthood, but data are absent concerning glucose metabolic health impact in infancy. We sought to determine whether the large birth size is associated with insulin resistance and β-cell function in infancy and evaluate the determinants.

Design And Participants: In the Canadian 3D birth cohort, we conducted a nested matched (1:2) study of 70 large-for-gestational-age (LGA, birth weight >90th percentile) and 140 optimal-for-gestational-age (OGA, 25th-75th percentiles) control infants.

Impact of Amino Acid Substitutions in Region II and Helix K of Herpes Simplex Virus 1 and Human Cytomegalovirus DNA Polymerases on Resistance to Foscarnet.

Amino acid substitutions conferring resistance of herpes simplex virus 1 (HSV-1) and human cytomegalovirus (HCMV) to foscarnet (PFA) are located in the genes and , respectively, encoding the DNA polymerase (pol). In this study, we analyzed the impact of substitutions located in helix K and region II that are involved in the conformational changes of the DNA pol. Theoretical substitutions were identified by sequences alignment of the helix K and region II of human herpesviruses (susceptible to PFA) and bacteriophages (resistant to PFA) and introduced in viral genomes by recombinant phenotyping.

Genomics and Personalized Nutrition.

Genomics technologies can be used to study the relationship between the human genome, nutrition, and health [...

Long Working Hours and Risk of Recurrent Coronary Events.

Background: Evidence from prospective studies has suggested that long working hours are associated with incident coronary heart disease (CHD) events. However, no previous study has examined whether long working hours are associated with an increased risk of recurrent CHD events among patients returning to work after a first myocardial infarction (MI).

Objectives: The purpose of this study was to examine the effect of long working hours on the risk of recurrent CHD events.

The role of radiological classification of parastomal hernia as a predictor of the need for surgical hernia repair: a retrospective cohort study.

Purpose: Parastomal hernia (PSH) is a frequent complication of stoma creation during colorectal surgery. Radiological classification systems have been proposed for PSH but are primarily used for research. Our objective was to determine if PSH radiological classification at diagnosis could predict the need for surgical repair during follow-up.

High dose versus low dose standardized cranberry proanthocyanidin extract for the prevention of recurrent urinary tract infection in healthy women: a double-blind randomized controlled trial.

Purpose: Our objective was to assess the efficacy of a high dose cranberry proanthocyanidin extract for the prevention of recurrent urinary tract infection.

Material And Methods: We recruited 145 healthy, adult women with a history of recurrent urinary tract infection, defined as ≥ 2 in the past 6 months or ≥ 3 in the past 12 months in this randomized, controlled, double-blind clinical trial. Participants were randomized to receive a high dose of standardized, commercially available cranberry proanthocyanidins (2 × 18.

Long working hours associated with elevated ambulatory blood pressure among female and male white-collar workers over a 2.5-year follow-up.

Population-based strategies targeting modifiable risk factors are needed to improve the prevention of hypertension. Long working hours have been linked to high blood pressure (BP), but more longitudinal research is required. The objective of this study was to examine the effect of long working hours (≥41 h/week) on ambulatory BP mean over a 2.

Differential impact of various substitutions at codon 715 in region II of HSV-1 and HCMV DNA polymerases.

This study aimed at understanding the impact of different substitutions at codon 715 localized in the region II of the palm domain of herpes simplex virus 1 (HSV-1) and human cytomegalovirus (HCMV) DNA polymerases (pol). Here, we report a new theoretical mutation V715S that confers resistance of HSV-1 to foscarnet/acyclovir (5.6- and 9.

Pandemics Throughout History.

The emergence and spread of infectious diseases with pandemic potential occurred regularly throughout history. Major pandemics and epidemics such as plague, cholera, flu, severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERS-CoV) have already afflicted humanity. The world is now facing the new coronavirus disease 2019 (COVID-19) pandemic.

Effect of Yogurt Consumption on Metabolic Syndrome Risk Factors: a Narrative Review.

Purpose Of Review: Metabolic syndrome (MetS) comprises risk factors such as obesity, hypertriglyceridemia, hypertension, and hyperglycemia. Here we described the outcome of various yogurt consumption, either conventional, low-fat, high-fat, Greek, or enriched with nutrients or probiotics: (1) on the parameters of MetS risk factors and (2) on the mechanisms of action of the MetS risk factors.

Recent Finding: The majority (25 studies) of clinical trials and meta-analyses of clinical trials reported a beneficial effect of yogurt consumption in the prevention of MetS risk.

Statistical and Machine-Learning Analyses in Nutritional Genomics Studies.

Nutritional compounds may have an influence on different OMICs levels, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics. The integration of OMICs data is challenging but may provide new knowledge to explain the mechanisms involved in the metabolism of nutrients and diseases. Traditional statistical analyses play an important role in description and data association; however, these statistical procedures are not sufficiently enough powered to interpret the large integrated multiple OMICs (multi-OMICS) datasets.

Job strain and incident cardiovascular disease: the confounding and mediating effects of lifestyle habits. An overview of systematic reviews.

This overview of systematic reviews (SR) aims to determine how the potential confounding and/or mediating effects of lifestyle habits were taken into consideration in SR examining the job strain effect on cardiovascular disease (CVD) incidence. Thirteen SR were identified. Lifestyle habits were often considered as confounders (n = 8).

An Early Microglial Response Is Needed To Efficiently Control Herpes Simplex Virus Encephalitis.

The role of a signaling pathway through macrophage colony-stimulating factor (MCSF) and its receptor, macrophage colony-stimulating factor 1 receptor (CSF1R), during experimental herpes simplex virus 1 (HSV-1) encephalitis (HSE) was studied by two different approaches. First, we evaluated the effect of stimulation of the MCSF/CSF1R axis before infection. Exogenous MCSF (40 μg/kg of body weight intraperitoneally [i.

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease affecting both upper and lower motor neurons and leading to progressive paralysis. Most cases are sporadic, and the symptoms generally begin in the sixth or seventh decade. Juvenile ALS appears in a rare subgroup of patients with onset before the age of 25 years old.

Psychosocial Stressors at Work and the Risk of Sickness Absence Due to a Diagnosed Mental Disorder: A Systematic Review and Meta-analysis.

Importance: Mental health problems are associated with considerable occupational, medical, social, and economic burdens. Psychosocial stressors at work have been associated with a higher risk of mental disorders, but the risk of sickness absence due to a diagnosed mental disorder, indicating a more severe condition, has never been investigated in a systematic review and meta-analysis.

Objective: To synthesize the evidence of the association of psychosocial stressors at work with sickness absence due to a diagnosed mental disorder among adult workers.

Dairy product intake modifies gut microbiota composition among hyperinsulinemic individuals.

Purposes: The objectives of this study were to investigate differences in gut microbiota (GM) composition after high dairy intake (HD) compared to adequate dairy intake (AD) and to correlate GM composition variations with the change in glycemic parameters in hyperinsulinemic subjects.

Methods: In this crossover study, 10 hyperinsulinemic adults were randomized to HD (≥ 4 servings/day) or AD (≤ 2 servings/day) for 6 weeks, separated by a 6-week washout period. Fasting insulin and glucose levels were measured after each intervention.

A panel of criteria for comprehensive assessment of severity of ultraviolet B radiation-induced non-melanoma skin cancers in SKH-1 mice.

The study of causes and cures for ultraviolet B radiation (UVB)-induced non-melanoma skin cancers (NMSC) has been greatly facilitated by use of the albino SKH-1 hairless mice. These mice develop multiple tumors of different sizes and the severity of cancer is often measured by one or more of the four criteria, namely the prevalence, multiplicity, area and volume of tumors. However, there are inherent limitations of each criterion: the prevalence and number do not account for size differences among tumors, area measurement ignores the tumor height, and volume measurement overcompensates for the height at the cost of planar dimensions.

Immunomodulatory Strategies in Herpes Simplex Virus Encephalitis.

Herpes simplex virus 1 (HSV-1) can be responsible for life-threatening HSV encephalitis (HSE). The mortality rate of patients with HSE who do not receive antiviral treatment is 70%, with most survivors suffering from permanent neurological sequelae. The use of intravenous acyclovir together with improved diagnostic technologies such as PCR and magnetic resonance imaging has resulted in a reduction in the mortality rate to close to 20%.

Hypersusceptibility of Human Cytomegalovirus to Foscarnet Induced by Mutations in Helices K and P of the Viral DNA Polymerase.

Herein, we phenotypically and enzymatically characterize the theoretical mutation Q579I in helix K and the already described clinical mutation K805Q in helix P of cytomegalovirus DNA polymerase for susceptibility to foscarnet. Q579I and K805Q recombinant viruses were hypersusceptible to foscarnet (respective mean 50% effective concentrations [EC] of 0.12- and 0.

What do cancer patients' relatives think about addressing cancer family history and performing genetic testing in palliative care?

Palliative care may be an opportunity to discuss cancer family history and familial cancer risks with patients' relatives. It may also represent the last opportunity to collect, from dying patients, clinical data and biospecimens that will inform cancer risk assessment and prevention in their surviving relatives. This study aims to explore the perspectives of cancer patients' relatives about cancer heritability, addressing cancer family history, and performing genetic testing in palliative care settings.