The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome sequencing data for 33,924 families with rare disease from the 100,000 Genomes Project. From a database hosting >500 million SVs, we focused on 351 genes where haploinsufficiency is a confirmed disease mechanism and identified 47 ultra-rare rearrangements that included an inversion (24 bp to 36.4 Mb, 20/47 de novo). Validation utilized a number of orthogonal approaches, including retrospective exome analysis. RNA-seq data supported the respective diagnoses for six participants. Phenotypic blending was apparent in four probands. Diagnostic odysseys were a common theme (>50 years for one individual), and targeted analysis for the specific gene had already been performed for 30% of these individuals but with no findings. We provide formal confirmation of a European founder origin for an intragenic MSH2 inversion. For two individuals with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation. A de novo inversion of HOXD11-13 was uncovered in a family with Kantaputra-type mesomelic dysplasia. Lastly, a complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp. Overall, inversions play a small but notable role in rare disease, likely explaining the etiology in around 1/750 families across heterogeneous clinical cohorts.

Adolescents' use of online food delivery applications and perceptions of healthy food options and food safety: a cross-sectional study in the United Arab Emirates.

Introduction: This cross-sectional study aimed to assess Online food delivery applications (OFDA) usage trends among adolescent users in the United Arab Emirates (UAE), focusing on their perceptions of healthy food options and food safety (n = 532). Methods: Sociodemographic information, frequency of OFDA use, factors affecting food choices, and perceptions of healthy food and food safety were investigated. A total perception score was calculated for each participant. Results: Most participants used OFDAs weekly (65.4%), favoring fast food (85.7%). Factors like appearance and price drove food choices (65.0%), while taste and cost hindered healthy food orders (29.7 and 28.2%). Younger and frequent users had lower scores for perceiving healthy food, while seeking healthy options was associated with higher scores (p < 0.05). Females and those seeking healthy food showed higher food safety scores (p < 0.05). Discussion: The study suggests tailored interventions to promote healthier choices and improve food safety perceptions among adolescents using OFDAs in the UAE.

Molecular crosstalk between polyphenols and gut microbiota in cancer prevention.

A growing body of evidence suggests that cancer remains a significant global health challenge, necessitating the development of novel therapeutic approaches. In recent years, the molecular crosstalk between polyphenols and gut microbiota has emerged as a promising pathway for cancer prevention. Polyphenols, abundant in many plant-based foods, possess diverse bioactive properties, including antioxidant, anti-inflammatory, and anticancer activities. The gut microbiota, a complex microbial community residing in the gastrointestinal tract, plays a crucial role in a host's health and disease risks. This review highlights cancer suppressive and oncogenic mechanisms of gut microbiota, the intricate interplay between gut microbiota modulation and polyphenol biotransformation, and the potential therapeutic implications of this interplay in cancer prevention. Furthermore, this review explores the molecular mechanisms underpinning the synergistic effects of polyphenols and the gut microbiota, such as modulation of signaling pathways and immune response and epigenetic modifications in animal and human studies. The current review also summarizes the challenges and future directions in this field, including the development of personalized approaches that consider interindividual variations in gut microbiota composition and function. Understanding the molecular crosstalk could offer new perspectives for the development of personalized cancer therapies targeting the polyphenol-gut axis. Future clinical trials are needed to validate the potential role of polyphenols and gut microbiota as innovative therapeutic strategies for cancer treatment.

Influence of maternal characteristics and infant feeding patterns on infant growth from birth till 18 months: The MISC study.

BACKGROUND: The growth and development of infants during the first 1000 days of life are crucial for their health. OBJECTIVES: This study aims to assess the impact of maternal characteristics and infant feeding patterns on infant growth from birth to 18 months. METHODS: Data were derived from the 2-year perspective Mother Infant Study Cohort (MISC) study which included six visits from the third trimester of pregnancy until 18 months postpartum. A convenient sample of 256 pregnant women aged 19-40 years was recruited from Sharjah, Dubai and Ajman in the United Arab Emirates. RESULTS: Amongst mothers' characteristics, Arab nationality, pre-pregnancy overweight/obesity, higher gestational weight gain and lower physical activity were found to increase the likelihood of infants being overweight at 6, 12 and 18 months. Exclusive breastfeeding was positively correlated with reduced odds of the infant being overweight at 18 months (aOR = 0.31, 95% CI: 0.12-0.81). Breastfeeding for up to 6 months and the introduction of solid foods after 6 months was associated with reduced odds of the infant being overweight at 12 months old (aOR = 4, 95% CI: 1.1-14.6; aOR = 2.97, 95% CI: 1.09-8.08, respectively). CONCLUSION: The findings spotlight the influence of maternal characteristics and infant feeding on infant growth. This asserts the need for evidence-based programmes targeting mothers to promote optimal feeding practices and foster healthy child growth.

Beyond pillbox: a national cross-sectional study on the attitudes, practices, and knowledge of community pharmacists regarding complementary and alternative medicine.

BACKGROUND: While community pharmacists are uniquely positioned to promote the safe and effective use of complementary and alternative medicine, their potential role remains largely untapped. The objective of this study was to assess the knowledge, attitudes, and practices related to complementary and alternative medicine products among community pharmacists in the United Arab Emirates and explore the correlates of knowledge in the study sample. METHODS: Using a stratified random sampling frame, a national survey of community pharmacists was conducted in the United Arab Emirates. In a face-to-face interaction, participants completed a multi-component questionnaire consisting of four sections: sociodemographic and general characteristics; knowledge of complementary and alternative medicine products and usage; attitudes towards complementary and alternative medicine and practices related to complementary and alternative medicine. Based on participants' answers, scores were calculated with higher scores indicating more positive knowledge, attitudes, and practices. RESULTS: 373 community pharmacists participated in the study (response rate: 83%). For the knowledge questions, more than 50% of community pharmacists correctly answered the functions of complementary and alternative medicine, however lower percentages were noted for the side effects and drug interactions questions. Most community pharmacists had positive attitudes towards complementary and alternative medicine, except for particular aspects such as efficacy, where 40% agreed that complementary and alternative medicine is only effective in treating minor complaints. As for practices, while more than 70% of participants counseled patients on complementary and alternative medicine use, only 47% reported the toxic effects when encountered. Multiple linear regressions showed that community pharmacists working in independent pharmacies, those with fewer years of experience, and those who did not receive complementary and alternative medicine education during their academic degree had lower knowledge scores (p < 0.05). CONCLUSIONS: The findings of this study showed that community pharmacists in the United Arab Emirates have good knowledge of complementary and alternative medicine functions and generally positive attitudes and practices, with few gaps identified in each. Together, these findings provide critical evidence for the development of targeted interventions to promote the role of community pharmacists towards safe and effective complementary and alternative medicine use in the country.

Intention to quit and its correlates among dieticians residing in the United Arab Emirates during the COVID-19 pandemic: A cross-sectional survey.

BACKGROUND: The COVID-19 pandemic precipitated increased workload, stress, and burnout on healthcare providers on the frontlines of the pandemic, dieticians were no exception. Such unprecedented occupational risks and stressors contributed to a higher intention to quit, potentially leading to workforce shortages, and hindering the delivery of quality care, especially for patients with chronic conditions. The aim of this study was to examine the prevalence factors associated with the intention to quit among dieticians in the United Arab Emirates during a public health emergency. METHODS: The study utilized a cross-sectional design with an online survey sent to dieticians between January and May 2021. The final version of the questionnaire included four sections: A sociodemographic section, intention to quit, work-related practices and challenges, as well as the resilience scale using the 25 items- Connor-Davidson Resilience Scale© (CD-RISC). Descriptive statistics as well as simple and multiple logistic regression analyses were carried out to explore factors associated with the intention to quit among dieticians. RESULTS: Study results revealed that a quarter of dieticians intend to quit their jobs. Higher odds of intention to quit among dieticians were significantly associated with male gender, younger age, having a chronic condition, being non-resilient, feeling unappreciated, using online platforms for dietary counseling, reporting increased workload, and working from home or in a blended format during the pandemic. CONCLUSION: This study revealed a high intention to quit among dieticians during the COVID-19 pandemic and identified a few correlates for the intention to quit that could support the development of evidence-based interventions. Such interventions should address through targeted programs the challenges faced by male dieticians, younger dieticians, as well as dieticians with Chronic health conditions. Furthermore, the findings of this study showed that promoting resilience among dieticians is crucial in reducing their intention to quit.

Preservative effect of pomegranate-based marination with ß-resorcylic acid and cinnamaldehyde on the microbial quality of chicken liver.

Chicken liver is considered a delicacy in the Middle East where pomegranate molass is commonly used as a salad dressing and in marinade recipes. Marinated chicken liver is a common entrée and represents a value-added product compared to the otherwise unmarinated liver which commands a lower price. The aim of this study was to investigate the inhibitory effects of a pomegranate-based marinade alone or following the addition of cinnamaldehyde or ß-resorcylic acid on the spoilage microorganisms present in chicken liver during storage for 14 d at 4°C or under mild temperature abuse conditions (10°C). The pH and microbial populations of total plate count (TPC), lactic acid bacteria (LAB), Pseudomonas spp. (PS), yeast and mold (YM), and Enterobacteriaceae (EN) were tested during the storage period and the shelf life was determined (defined as 107 log cfu/g). Sensory analysis was also conducted. The pH increased by a greater extent in unmarinated samples as compared to marinated samples (with or without antimicrobials) upon storage. The initial TPC, LAB, PS, YM, and EN microbial populations in the chicken liver were 3.85 ± 0.79, 3.73 ± 0.85, 3.85 ± 0.79, 3.73 ± 0.87, and 3.69 ± 0.23 log cfu/g, respectively. The marinade decreased the microbial populations by 2 to 4 log cfu/g. The marinade and antimicrobial mixture decreased the microbial populations by 3 to 4 log cfu/g. Except for 1 sample, none of the marinated chicken liver samples with or without antimicrobials reached the end of shelf life even up to 14 d of storage at both 4°C and 10°C. The overall sensory score was rated around 6/9 for the treated samples.

Caffeine intake and its association with nutrition, sleep, and physical activity among schoolchildren in the United Arab Emirates: a national cross-sectional study.

PURPOSE: Recent surveys indicate a significant increase in total caffeine intake among schoolchildren. Limited research has been published concerning the total intake of caffeine among schoolchildren in the Middle East and Gulf Cooperation Council (GCC) countries, including the UAE. METHODS: This cross-sectional survey estimated the total caffeine intake from foods and beverages among 10,275 schoolchildren in the UAE. Caffeine intakes were related to the European Food Safety Authority's level of no safety concern (3.0 mg/kg BW) and level of effects on sleep (1.4 mg/kg BW). RESULTS: More than half (56.2%) of the students consumed more than 100 mg (the upper limit allowed) of caffeine from dietary sources. High intake of caffeine (> 100 mg/day) was significantly associated (p = 0.001) with reduced sleep duration, difficulty falling asleep, infrequent exercising, using smart devices for more than 2 h a day, getting a lower GPA, skipping breakfast, eating fewer servings of vegetables than recommended, frequent consumption of fast food and more frequent snack consumption. CONCLUSION: Excessive intake of caffeine from different dietary sources coexists with unhealthy dietary and lifestyle behaviors and sleep problems. Tailoring educational programs and intervention strategies is warranted to correct the unhealthy intake of caffeine and the associated unhealthy dietary and lifestyle behaviors among schoolchildren in the UAE.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for phenotypic and genomic analysis with our novel algorithms (SVRare, ALTSPLICE and GREEN-DB) to detect and annotate structural, splice site and non-coding variants. RESULTS: Our diagnostic yield was 43/122 cases (35%), although 47/122 cases (39%) were considered solved when considering novel candidate genes with supporting functional data into account. Structural, splice site and deep intronic variants contributed to 20/47 (43%) of our solved cases. Five genes that are novel, or were novel at the time of discovery, were identified, whilst a further three genes are putative novel disease genes with evidence of causality. We identified variants of uncertain significance in a further fourteen candidate genes. The phenotypic spectrum associated with RMND1 was expanded to include polymicrogyria. Two patients with secondary findings in FBN1 and KCNQ1 were confirmed to have previously unidentified Marfan and long QT syndromes, respectively, and were referred for further clinical interventions. Clinical diagnoses were changed in six patients and treatment adjustments made for eight individuals, which for five patients was considered life-saving. CONCLUSIONS: Genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing.

Caffeinated energy drink consumption among Emirati adolescents is associated with a cluster of poor physical and mental health, and unhealthy dietary and lifestyle behaviors: a cross-sectional study.

Background: Consumption of caffeinated energy drinks (CED) has escalated during the last few years, especially among schoolchildren, with evident adverse health sequelae in this critical age group. Objective: This study examined the prevalence of CED consumption and its associations with sleep, physical and mental health, and dietary and lifestyle habits among schoolchildren in the United Arab Emirates (UAE). Method: A structured self-administered online questionnaire was developed and disseminated among schoolchildren aged 14-18 years, selected from schools of the seven emirates of the UAE. Results: More than 4,500 (N= 4,648) responses received. A relatively low prevalence of CED consumption (20%) was found among schoolchildren in the UAE. However, those who reported CED consumption were more likely to report unhealthy dietary (skipping breakfast, frequent snacking, and eating fast foods, low fruit, and vegetable intake) and lifestyle behaviors (long screen time, poor sleep health), in addition to poor self-reported mental and physical health than non-users. CED consumption was significantly and variably associated with multiple sociodemographic factors such as students' nationality, parental companionship, sex, school type, education level (children's and parents'), daily allowance, academic performance, screen time, sleep quality parameters, self-reported physical and mental health, and parents' employment. Sources of knowledge about CED were social media (55%), friends/schoolmates (52%), and family members (52%). Students believed that CED constitute sugar (87%), caffeine (69%), artificial flavors (67%) sweeteners (54%), and stimulating components (43%). The majority (70%) of students reported that CED consumption increases the risks for heart disease, diabetes, high blood sugar (65%), addiction (64%), high blood pressure (59%), and obesity (57%). Conclusion: These results offer important insights for health professionals, child health specialists, policymakers, and parents in the UAE regarding adolescents' attitudes, knowledge and behaviors toward CED consumption.

An innovative state-of-the-art health storytelling technique for better management of type 2 diabetes.

Background: Type 2 diabetes (T2D) is a chronic lifelong disease that requires long-term prevention and management strategies in a community setting. A health story is a novel technique that may be used as an effective tool for better prevention and management of T2D. Objective: The main objective of this study is to develop a story to be used as a social health technique based on contemporary scientific knowledge that may be used at a community level for better communication and management of T2D. Methods: A community-academic partnership was formed with a not-for-profit Nutrition Education, Awareness, and Training (NEAT) organization in Khyber Pakhtunkhwa, Pakistan. We agreed to develop a story that may be used as a health and nutrition education communication tool for better management of patients with T2D. The following phases were followed during the story creation process: (1) the theory phase, (2) the modeling phase, and (3) the evaluation phase. Raters evaluated the story to determine its literary and scientific quality, comprehensiveness, and T2D specificity. Results: The title of the story translated into English is "The Story of Diabetes-The Story of Success." It is text based and contains 86 pages in the local language, "Pashto," with an English translation. The story is divided into five chapters and describes the initial diagnosis, fear associated with the disease, issues related to referral to certified practitioners, the importance of a balanced diet, and related lifestyle habits. After story evaluation, the raters suggested its literary and scientific quality, comprehensiveness, and T2D specificity (Pearson correlation scores of >0.8). Conclusion: This unique story was created for T2D and found to be of significant quality in terms of its literary and scientific quality, as well as its comprehensiveness and diabetes specificity. As a result, it may be suggested that it can be used in subsequent studies to improve T2D management among adult patients.

Public's calorie literacy and perceived effectiveness of restaurant menu calorie labeling in the United Arab Emirates.

Restaurant menu calorie labeling is regarded as a promising, cost-effective, and innovative method that will have an impact on the food environment, raise awareness among consumers, and aid in global efforts to prevent obesity. This study aimed to assess the public's calorie literacy, dining practices, and perceived effectiveness of restaurant menu labeling implementation in the United Arab Emirates (UAE). A descriptive, web-based cross-sectional study was conducted among 1279 adults in the UAE. Socio-demographic characteristics, calorie literacy, and perceived effectiveness of restaurant menu labeling among participants were investigated. Chi-square analysis was used to compare indicators across demographic characteristics. More females than males completed the online survey, (56.1% and 43.9%). Most of the participants aged < 30 years old (54.8%), The majority of participants reported eating away from home at least once per week (89.6%). 66.0% of participants were knowledgeable about calorie definition, but only 37.1% knew about average daily energy requirements. Younger participants, with a normal BMI, and higher education levels reported a significantly higher likelihood of eating at a chain restaurant with caloric information on the menu (p <0.05). The majority of participants (76.0%) preferred to see calorie information and other nutrition information on menus. To conclude, menu labeling is a welcomed policy to be implemented in food outlets. Further investigation is necessary to ascertain the most efficacious method of presenting nutrition information to consumers to facilitate informed purchasing decisions considering the potential benefits of mandating calorie declaration in obesity prevention efforts.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/- mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1+/- mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1+/- brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course.

Sustainable diets among youth: Validity and reliability of a questionnaire assessing knowledge, attitudes, practices, and willingness to change.

BACKGROUND: In light of the global commitment to promoting sustainable dietary choices and the pivotal role of young adults in the adoption of these choices, it is paramount to understand their perspectives of healthy and sustainable diets. The present study aimed to investigate the validity and reliability of a questionnaire examining the knowledge, attitudes, practices, and willingness to change regarding sustainable diets among young adults in the United Arab Emirates (UAE). METHODS: Male and female students attending University of Sharjah, UAE (n = 436), completed an online questionnaire consisting of four sections: knowledge, attitudes, practices, and willingness to change with regard to sustainable diets. Of the participants, 106 completed the questionnaire a second time, 1 month later. Factor analysis (FA) (both exploratory and confirmatory), Cronbach-α, interitem correlations, and intra class correlation (ICC) coefficients were used in the data analysis. RESULTS: Exploratory FA revealed four factors corresponding to the components of the questionnaire. Results of the confirmatory FA indicated a good fit: the χ2 df ratio was < 5 (2.3), root mean squared error of approximation was < 0.08 (0.048) and the comparative fit index was above 0.9 (0.901). Cronbach α and interitem correlations were: knowledge: 0.57 and 0.21; attitude: 0.70 and 0.28; practices: 0.76 and 0.39; willingness to change: 0.69 and 0.27. The ICC coefficients, assessing the reliability of the questionnaire, ranged between 0.48 and 0.92 for the various items. CONCLUSIONS: The developed questionnaire is a valid and reliable tool that could be used to identify the gaps and opportunities for the development of evidence-based interventions aiming to enhance the uptake of sustainable diets among young adults.

Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

We describe a patient from the 100,000 Genomes Project with a complex de novo structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome. This case expands the mutational spectrum for this syndrome and highlights the importance of revisiting unsolved cases using better SV prioritisation tools and updated gene panels.

A Status Review on Health-Promoting Properties and Global Regulation of Essential Oils.

Since ancient times, essential oils (EOs) have been known for their therapeutic potential against many health issues. Recent studies suggest that EOs may contribute to the regulation and modulation of various biomarkers and cellular pathways responsible for metabolic health as well as the development of many diseases, including cancer, obesity, diabetes, cardiovascular diseases, and bacterial infections. During metabolic dysfunction and even infections, the immune system becomes compromised and releases pro-inflammatory cytokines that lead to serious health consequences. The bioactive compounds present in EOs (especially terpenoids and phenylpropanoids) with different chemical compositions from fruits, vegetables, and medicinal plants confer protection against these metabolic and infectious diseases through anti-inflammatory, antioxidant, anti-cancer, and anti-microbial properties. In this review, we have highlighted some targeted physiological and cellular actions through which EOs may exhibit anti-inflammatory, anti-cancer, and anti-microbial properties. In addition, it has been observed that EOs from specific plant sources may play a significant role in the prevention of obesity, diabetes, hypertension, dyslipidemia, microbial infections, and increasing breast milk production, along with improvements in heart, liver, and brain health. The current status of the bioactive activities of EOs and their therapeutic effects are covered in this review. However, with respect to the health benefits of EOs, it is very important to regulate the dose and usage of EOs to reduce their adverse health effects. Therefore, we specified that some countries have their own regulatory bodies while others follow WHO and FAO standards and legislation for the use of EOs.

Gut Microbiota and Time-Restricted Feeding/Eating: A Targeted Biomarker and Approach in Precision Nutrition.

Each individual has a unique gut microbiota; therefore, the genes in our microbiome outnumber the genes in our genome by about 150 to 1. Perturbation in host nutritional status influences gut microbiome composition and vice versa. The gut microbiome can help in producing vitamins, hormones, and other active metabolites that support the immune system; harvest energy from food; aid in digestion; protect against pathogens; improve gut transit and function; send signals to the brain and other organs; oscillate the circadian rhythm; and coordinate with the host metabolism through multiple cellular pathways. Gut microbiota can be influenced by host genetics, medications, diet, and lifestyle factors from preterm to aging. Aligning with precision nutrition, identifying a personalized microbiome mandates the provision of the right nutrients at the right time to the right patient. Thus, before prescribing a personalized treatment, it is crucial to monitor and count the gut flora as a focused biomarker. Many nutritional approaches that have been developed help in maintaining and restoring an optimal microbiome such as specific diet therapy, nutrition interventions, and customized eating patterns. One of these approaches is time-restricted feeding/eating (TRF/E), a type of intermittent fasting (IF) in which a subject abstains from food intake for a specific time window. Such a dietary modification might alter and restore the gut microbiome for proper alignment of cellular and molecular pathways throughout the lifespan. In this review, we have highlighted that the gut microbiota would be a targeted biomarker and TRF/E would be a targeted approach for restoring the gut-microbiome-associated molecular pathways such as hormonal signaling, the circadian system, metabolic regulators, neural responses, and immune-inflammatory pathways. Consequently, modulation of the gut microbiota through TRF/E could contribute to proper utilization and availability of the nutrients and in this way confer protection against diseases for harnessing personalized nutrition approaches to improve human health.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported. METHODS: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases. Functional analysis was performed for 2 recurrent variants (c.2679C>G p.Ser893Arg and c.932T>G p.Leu311Trp). RESULTS: Biallelic-truncating variants were detected in 16 patients-10 with Fryns syndrome, 1 with MCAHS1, 2 with Fryns syndrome/MCAHS1, and 3 with neurologic phenotype. There was an increased risk of prenatal or neonatal death within this group (6 deaths were in utero or within 2 months of life; 6 pregnancies were terminated). Incidence of polyhydramnios, congenital anomalies (eg, diaphragmatic hernia), and dysmorphism was significantly increased. Biallelic missense or mixed genotype were reported in the remaining 45 cases-32 showed a neurologic phenotype and 12 had MCAHS1. No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final exon. For all genotypes, there was complete penetrance for developmental delay and near-complete penetrance for seizures and hypotonia in patients surviving the neonatal period. CONCLUSION: We have expanded the described spectrum of phenotypes and natural history associated with biallelic PIGN variants. Our study shows that biallelic-truncating variants usually result in the more severe Fryns syndrome phenotype, but neurologic problems, such as developmental delay, seizures, and hypotonia, present across all genotypes. Functional analysis should be considered when the genotypes do not correlate with the predicted phenotype because there may be other functionally important regions in PIGN that are yet to be discovered.

Inhibition of spoilage bacteria on marinated chicken by essential oils under aerobic and vacuum packaging.

"Chicken tawook" is a marinated boneless chicken entrée consumed in the Middle East. The aim of this study was to determine whether bioactive essential oil (EO) components carvacrol (CA), cinnamaldehyde (CI), and thymol (TH) would delay the growth of microorganisms causing tawook spoilage during aerobic (AP) or vacuum (VP) packed storage. The EOs at 1% and 2% were mixed individually with the marinade. The samples (10 g of chicken cubes with 1.2 g of marinade - with or without EOs) were stored in bags under AP and VP (Geryon® ) for 7 days at 4 ± 1°C and abusive conditions (10 ± 1°C). Two control samples consisting of meat chunks and tawook without EO were used. The microflora numbers were greater at 10°C than at 4°C, and the marinade worked additively with AP against anaerobes, yeast and mold (Y & M) and lactic acid bacteria. It also worked additively with VP against aerobic bacteria recovered as Pseudomonas and the total plate count. EO components were observed to decrease microbial populations by a maximum of 4 to 6 log colony-forming unit (CFU)/g depending on the type of microorganism. The combined mixture of marinade and 2% EO (CA, CI, and TH) resulted in the greatest reductions of all spoilage microorganisms at 10°C under AP on the last day of storage. Overall, VP was more effective (p < 0.05) than AP in controlling microorganisms at both 4 and 10°C. This study provides an affordable and natural alternative for extending product life. PRACTICAL APPLICATION: The use of EOs in marinated chicken (tawook) is expected to help producers reduce spoilage and extend shelf-life of the product when stored at refrigeration temperatures. EOs provide a cheaper alternative and are naturally sourced. Vacuum packaging will increase the shelf-life of marinated chicken tawook and facilitate its storage and transportation.

Food safety knowledge among pregnant women in the United Arab Emirates amid the COVID-19 pandemic.

Studies have indicated shortcomings in food safety knowledge and practices among pregnant women in the Arab region. A high-risk group for having severe outcomes from foodborne illnesses. This study aimed to assess self-reported food safety knowledge and practices among pregnant women in the UAE during the COVID-19 pandemic. A total of 354 pregnant women residing in the UAE completed an online survey between October 2021 and January 2022. The questionnaire included socio-demographic information, food safety knowledge, and food practices during the COVID-19 pandemic. Correct answers for food safety knowledge were scored out of 50 and the total score was compared by sociodemographic characteristics. The total mean score for the study population was 26.7 ± 4.6 out of 50. Participants had good knowledge about foodborne diseases (81.3%) and personal hygiene practices (61.8%). While they were least knowledgeable about cross-contamination (43.3%) and temperature control practices (35.8%). Significantly higher knowledge scores were observed with higher levels of education and primigravida women (p<0.05). Knowledge about the COVID-19 virus and its relation to food safety was adequate for most participants. This study infers the need for food safety-related education and training programs to reduce the risk of foodborne disease among this vulnerable group. It also highlights the need to enhance the role of healthcare professionals as trusted sources of information in improving food safety during pregnancy.