Metabolic profiles and morphological characteristics of leaf tips among different sweet potato(Ipomoea batatas Lam.)varieties

Sweet potato leaf tips have high nutritional value,and exploring the differences in the metabolic profiles of leaf tips among different sweet potato varieties can provide information to improve their qualities.In this study,a UPLC-Q-Exactive Orbitrap/MS-based untargeted metabolomics method was used to evaluate the metabolites in leaf tips of 32 sweet potato varieties.Three varieties with distinct overall metabolic profiles(A01,A02,and A03),two varieties with distinct profiles of phenolic acids(A20 and A18),and three varieties with distinct profiles of flavonoids(A05,A12,and A16)were identified.In addition,a total of 163 and 29 differentially expressed metabolites correlated with the color and leaf shape of sweet potato leaf tips,respectively,were identified through morphological characterization.Group comparison analysis of the phenotypic traits and a metabolite-phenotypic trait correlation analysis indicated that the color differences of sweet potato leaf tips were markedly associated with flavonoids.Also,the level of polyphenols was correlated with the leaf shape of sweet potato leaf tips,with lobed leaf types having higher levels of polyphenols than the entire leaf types.The findings on the metabolic profiles and differentially expressed metabolites associated with the morphology of sweet potato leaf tips can provide useful information for breeding sweet potato varieties with higher nutritional value.

Sex dimorphism and metabolic profiles in management of metabolic-associated fatty liver disease

Metabolic-associated fatty liver disease(MAFLD)refers to the build-up of fat in the liver associated with metabolic dysfunction and has been estimated to affect a quarter of the population worldwide.Although metabolism is highly influenced by the effects of sex hormones,studies of sex differences in the incidence and progression of MAFLD are scarce.Metabolomics represents a powerful approach to studying these differences and identifying potential biomarkers and putative mechanisms.First,metabolomics makes it possible to obtain the molecular phenotype of the individual at a given time.Second,metabolomics may be a helpful tool for classifying patients according to the severity of the disease and obtaining diagnostic biomarkers.Some studies demonstrate associations between circulating metabolites and early and established MAFLD,but little is known about how metabolites relate to and encompass sex differences in disease progression and risk management.In this review,we will discuss the epidemiological metabolomic studies for sex differences in the development and progression of MAFLD,the role of metabolic profiles in understanding mechanisms and identifying sex-dependent biomarkers,and how this evidence may help in the future management of the disease.

An integrated strategy for comprehensive characterization of metabolites and metabolic profiles of bufadienolides from Venenum Bufonis in rats

Comprehensive characterization of metabolites and metabolic profiles in plasma has considerable significance in determining the efficacy and safety of traditional Chinese medicine(TCM)in vivo.However,this process is usually hindered by the insufficient characteristic fragments of metabolites,ubiquitous matrix interference,and complicated screening and identification procedures for metabolites.In this study,an effective strategy was established to systematically characterize the metabolites,deduce the metabolic pathways,and describe the metabolic profiles of bufadienolides isolated from Venenum Bufonis in vivo.The strategy was divided into five steps.First,the blank and test plasma samples were injected into an ultra-high performance liquid chromatography/linear trap quadrupole-orbitrap-mass spectrometry(MS)system in the full scan mode continuously five times to screen for valid matrix compounds and metabolites.Second,an extension-mass defect filter model was established to obtain the targeted precursor ions of the list of bufadienolide metabolites,which reduced approximately 39%of the interfering ions.Third,an acquisition model was developed and used to trigger more tandem MS(MS/MS)fragments of precursor ions based on the targeted ion list.The acquisition mode enhanced the acquisition capability by approximately four times than that of the regular data-dependent acquisition mode.Fourth,the acquired data were imported into Compound Discoverer software for identification of metabolites with metabolic network prediction.The main in vivo metabolic pathways of bufadienolides were elucidated.A total of 147 metabolites were characterized,and the main biotransformation reactions of bufadienolides were hydroxylation,dihydroxylation,and isomerization.Finally,the main prototype bufadienolides in plasma at different time points were determined using LC-MS/MS,and the metabolic profiles were clearly identified.This strategy could be widely used to elucidate the metabolic profiles of TCM preparations or Chinese patent medicines in vivo and provide critical data for rational drug use.

Effect of bariatric surgery on adiposity and metabolic profiles: A prospective cohort study in Middle-Eastern patients

AIM To investigate changes in adiposity and cardio-metabolic risk profile following Roux-en-Y gastric bypass in patients of Middle Eastern ethnicity with severe obesity.METHODS This prospective cohort study involved 92 patients who met the indications of bariatric surgery. Post-procedure markers of obesity and cardiometabolic profile were monitored regularly for a year.RESULTS Mean body mass index decreased by 29.5% from 41.9 to 29.5 kg/m^2 between baseline and 12-mo follow-up, while mean fat mass decreased by 45.9% from 64.2 kg to 34.7 kg. An improvement was also observed in the glucometabolic profile with both fasting glucose and HbA 1csubstantially decreasing(P < 0.001).CONCLUSION The present study shows the short to medium term(1 year) health benefits of bariatric surgery for patients of Middle Eastern ethnicity.

Application of machine learning algorithms to screen potential biomarkers under cadmium exposure based on human urine metabolic profiles

Exposure to environmental cadmium increases the health risk of residents.Early urine metabolic detection using high-resolution mass spectrometry and machine learning algorithms would be advantageous to predict the adverse health effects.Here,we conducted machine learning approaches to screen potential biomarkers under cadmium exposure in 403 urine samples.In positive and negative ionization mode,4207 and 3558 features were extracted,respectively.We compared seven machine learning algorithms and found that the extreme gradient boosting(XGBoost)and random forest(RF)classifiers showed better accuracy and predictive performance than others.Following 5-fold cross-validation,the value of area under curve(AUC)was both 0.93 for positive and negative ionization modes in XGBoost classifier.In the RF classifier,AUC were 0.80 and 0.84 for positive and negative ionization modes,respectively.We then identified a biomarker panel based on XGBoost and RF classifiers.The incorporation of machine learning models into urine analysis using high-resolution mass spectrometry could allow a convenient assessment of cadmium exposure.

Influence of Chromatogram Baseline Shifts and Exogenous Metabolite Signals on Metabolic Profiles of Traditional Chinese Medicine Chaihu and Its Liver Toxicity Metabonomics

In an LC-MS investigation of drug metabolic samples from the traditional Chinese medicine Chaihu, the baseline was established via MS selectivity-based chromatogram baseline-shift elimination and exogenous metabolite signals were obtained with MS-based orthogonal projection. Their respective influences on the metabolic chromato- graphic profiles, metabonomics model and evaluation of drug toxicity were investigated. The baseline shift enhanced the difference between the metabolic profiles of the control and Chaihu groups, and the corresponding correlation coefficient decreased from 70.38% to 62.69%. The exogenous metabolite signal led to a biased expression of the evaluated toxicity, and the enhanced expression resulted in an average Mahalanobis distance of approximately 9.4%. Based on established metabonomics models, the results show that Chaihu induces liver toxicity at a lower dose of 25 g/kg, twice a day. At this dose, Chaihu elicits a process of self-repair for its liver toxicity. The signal intensities of exogenous metabolites from Chaihu changed with the administration time, but only the signal intensities of large molecule metabolites（m/z 500--850） from Chaihu had a positive correlation with its toxicity. These results suggest that liver toxicity from low doses of Chaihu was probably caused by the larger molecule components and not by its active components, saikosaponin and flavonoid glycoside.

Brain metabolic profile assessed by magnetic resonance spectroscopy in children with Down syndrome:Relation to intelligence quotient

BACKGROUND Down syndrome(DS)is one of the most common causes of intellectual disability.Children with DS have varying intelligence quotient(IQ)that can predict their learning abilities.AIM To assess the brain metabolic profiles of children with DS and compare them to standard controls,using magnetic resonance spectroscopy(MRS)and correlating the results with IQ.METHODS This case-control study included 40 children with DS aged 6-15 years and 40 age and sex-matched healthy children as controls.MRS was used to evaluate ratios of choline/creatine(Cho/Cr),N-acetyl aspartic acid/creatine(NAA/Cr),and myoinositol/creatine(MI/Cr(in the frontal,temporal,and occipital lobes and basal ganglia and compared to controls and correlated with IQ.RESULTS Children with DS showed significant reductions in NAA/Cr and MI/Cr and a non-significant reduction in Cho/Cr in frontal lobes compared to controls.Additionally,we observed significant decreases in NAA/Cr,MI/Cr,and Cho/Cr in the temporal and occipital lobes and basal ganglia in children with DS compared to controls.Furthermore,there was a significant correlation between IQ and metabolic ratios in the brains of children with DS.CONCLUSION Brain metabolic profile could be a good predictor of IQ in children with DS.

Frequency of B and C Hepatitis Viruses, and Metabolic Profile in Type 2 Diabetics: A Case of the YaoundéCentral Hospital, Cameroon

Poorly controlled type 2 diabetes alters the immune system, increasing the risk of susceptibility to viral infections such as hepatitis B and C infections. This study aimed to determine the frequency of hepatitis B and C and metabolic profiles in type 2 diabetics. This was a cross-sectional study conducted over six months. It was conducted at the National Obesity Center (NOC) of the Yaoundé Central Hospital (YCH), Cameroon. 100 diabetic patients, with a mean age of 58.41 ± 10.74 years were enrolled in the study. The socio-demographic characteristics of the study population and the risk factors for virus transmission were recorded using a pre-established questionnaire. HBsAg and anti-HCV antibodies were revealed by a rapid diagnostic test. Liver function markers’ activities were determined. Commercial kits were used to evaluate the patient’s serum lipid profile, serum fasting glucose level, urea, creatinine, and albumin. With a sex ratio of 3:1, women outnumbered men. Risk factors for HCV and HBV infections evocated by the population were dental care (50%), followed by alcohol consumption (41%). HBsAg and anti-HCV antibodies frequency was 3% and 8% respectively. No cases of coinfection were found. In general, hypertriglyceridemia with a mean of 1.61 ± 0.46 g/L and hyperglycemia of 1.35 ± 0.45 g/L were noted. A significant difference (p = 0.028) was found in HDL-cholesterol values between non-co-affected diabetics and HCV+ diabetics. The effect of the duration of diabetes on biochemical parameters revealed that albumin was the only significant decrease over time (p = 0.013). Based on these results, the metabolic profile of patients was altered. It is important to take note of the prevalence of hepatitis seen in type 2 diabetes mellitus since it demonstrates the potential link between both illnesses. Thus, early detection could prevent complications related to B and C hepatitis infections in type 2 diabetics.

Structural insights on anti-biofilm mechanism of heated slightly acidic electrolyzed water technology against multi-resistant Staphylococcus aureus biofilm on food contact surface

Slightly acidic electrolyzed water(SAEW)has proven to be an efficient and novel sanitizer in food and agriculture field.This study assessed the efficacy of SAEW(30 mg/L)at 40℃on the inactivation of foodbome pathogens and detachment of multi-resistant Staphylococcus aureus(MRSA)biofilm.Furthermore.the underlying mechanism of MRS A biofilm under heated SAEW at 40℃treatment on metabolic profiles was investigated.The results showed that the heated SAEW at 40℃significantly effectively against foodbome pathogens of 1.96-7.56(lg(CFU/g))reduction in pork,chicken,spinach,and lettuce.The heated SAEW at 40℃treatment significantly reduced MRS A biofilm cells by 2.41(lg(CFU/cm^(2))).The synergistic effect of SAEW treatment showed intense anti-biofilm activity in decreasing cell density and impairing biofilm cell membranes.Global metabolic response of MRSA biofilms,treated by SAEW at 40℃,revealed the alterations of intracellular metabolites,including amino acids,organic acid,fatty acid,and lipid.Moreover,signaling pathways involved in amino acid metabolism,energy metabolism,nucleotide synthesis,carbohydrate metabolites,and lipid biosynthesis were functionally disrupted by the SAEW at 40℃treatment.As per our knowledge,this is the first research to uncover the potential mechanism of heated SAEW treatment against MRSA biofilm on food contact surface.

A deeper understanding of the gut microbiota of different human races in search of disease specific microbial and metabolic biomarkers

Objective:Resident microorganisms live in dynamic harmony with their hosts to influence various physical and psychological health aspects.The majority of the resident microbes are found in the digestive tract,aka the gut of mammals.If and when perturbed,the composition of gut microbiota could jeopardize the physiological balance or homeostasis.In this article,we aim to establish how different diseases could be accompanied by notable changes in gut microbial composition and lend insight into microbial regulation of health.Methods:Literature search was done in PubMed using relevant keywords and summarized in tabular form as well as in narration.Results:We try to focus on the concept of microbial and metabolite biomarkers for diseases.We also try to capture the renewed perspective of good and harmful microorganisms in the context of host health.We have presented a comparative network analysis of microbial roles in select diseases.Recent findings also suggested that the growth of some traditionally disease-causing pathogenic microorganisms promotes health in other human communities.We have listed major taxa of gut microbes in communities worldwide,which signifies that gut microbiota can be healthy or harmful depending on the urbanization and ethnicity of the hosts.The traditional and current schools of thoughts are both limited by the technology of metagenomic studies;we have elucidated some of their shortcomings.Conclusion:Research in the field of gut microbiota must take into account the different populations and the changing narrative of healthy and harmful microbes.

Serum metabolic profiling of targeted bile acids reveals potentially novel biomarkers for primary biliary cholangitis and autoimmune hepatitis

BACKGROUND Primary biliary cholangitis(PBC)and autoimmune hepatitis(AIH)are two unexplained immune diseases.The golden standard for diagnosis of these diseases requires a liver biopsy.Liver biopsy is not widely accepted by patients because of its invasive nature,and atypical liver histology can confuse diagnosis.In view of the lack of effective diagnostic markers for PBC and AIH,combined with the increasingly mature metabolomics technologies,including full-contour metabolomics and target.AIM To determine non-invasive,reliable,and sensitive biochemical markers for the differential diagnosis of PBC and AIH.METHODS Serum samples from 54 patients with PBC,26 patients with AIH and 30 healthy controls were analyzed by Ultra-high performance liquid chromatographytandem mass spectrometry serum metabolomics.The metabolites and metabolic pathways were identified,and the metabolic changes,metabolic pathways and inter-group differences between PBC and AIH were analyzed.Fifteen kinds of target metabolites of bile acids(BAs)were quantitatively analyzed by SRM,and the differential metabolites related to the diagnosis of PBC were screened by receiver operating characteristic curve analysis.RESULTS We found the changes in the levels of amino acids,BAs,organic acids,phospholipids,choline,sugar,and sugar alcohols in patients with PBC and AIH.Furthermore,the SRM assay of BAs revealed the increased levels of chenodeoxycholic acid,lithocholic acid(LCA),taurolithocholic acid(TLCA),and LCA+TLCA in the PBC group compared with those in the AIH group.The levels of BAs may be used as biomarkers to differentiate PBC from AIH diseases.The levels of glycochenodeoxycholic acid,glycochenodeoxycholic sulfate,and taurodeoxycholic acid were gradually elevated with the increase of Child-Pugh class,which was correlated with the severity of disease.CONCLUSION The results demonstrated that the levels of BAs could serve as potential biomarkers for the early diagnosis and assessment of the severity of PBC and AIH.

GC/MS-based differential metabolic profiling of human peptic ulcer disease to study Helicobacter pylori-induced metabolic perturbations

Helicobacter pylori infection has been significantly linked to Peptic Ulcer Disease and Gastric Cancer.Metabolomic fingerprinting may offer a principal way of early diagnosis and to understand the molecular mechanism of H.pylori-induced pathogenicity.The rationale of the study is to explore the underlying distinct metabolic mechanisms of H.pylori-induced PUD and to identify potential biomarkers for disease diagnosis and associated risks using Gas chromatography/mass spectrometry.GC/MS-based analytical method was used to compare metabolic profiles of healthy controls(N=20)and peptic ulcer patients(N=45).Acquired metabolomic data were analyzed by constructing a diagnostic model using principal component analysis and a non-parametric two-tailed paired Wilcoxon analysis to identify disease-specific metabolic biomarkers.A total of 75 low-molecular-weight endogenous metabolites were detected during comparative metabolomic analysis of PUD vs.healthy gut tissues,among which 16 metabolites are being proposed to be diagnostic markers of Human PUD.Perturbations related to amino acids,carbohydrates,fatty acids,organic acids,and sterol metabolism were significantly revealed during this differential metabolomic profiling.Results convincingly suggest that metabolic profiles can contribute immensely in early diagnosis of the disease and understanding molecular mechanisms of disease progression for predicting novel drug targets for prophylactic and anaphylactic measures.

1~H NMR-based serum metabolic profiling in compensatedand decompensated cirrhosis

AIM: To study the metabolic profiling of serum samples from compensated and decompensated cirrhosis patients. METHODS: A pilot metabolic profiling study was conducted using three groups: compensated cirrhosis patients (n = 30), decompensated cirrhosis patients (n = 30) and healthy controls (n = 30). A 1H nuclear magnetic resonance (NMR)-based metabonomics approach was used to obtain the serum metabolic profiles of the samples. The acquired data were processed by multivariate principal component analysis and orthogonal partial least-squares discriminant analysis (OPLS-DA). RESULTS: The OPLS-DA model was capable of distinguishing between decompensated and compensated cirrhosis patients, with an R2Y of 0.784 and a Q2Y of 0.598. Twelve metabolites, such as pyruvate, phenylala-nine and succinate, were identified as the most influential factors for the difference between the two groups. The validation of the diagnosis prediction showed that the accuracy of the OPLS-DA model was 85% (17/20). CONCLUSION: 1H NMR spectra combined with pattern recognition analysis techniques offer a new way to diagnose compensated and decompensated cirrhosis in the future.

The dynamic metabolic profile of Qi-Yu-San-Long decoction in rat urine using UPLC-QTOF-MS^(E) coupled with a post-targeted screening strategy

Qi-Yu-San-Long decoction(QYSLD)is a traditional Chinese medicine that has been clinically used in the treatment of non-small-cell lung cancer(NSCLC)for more than 20 years.However,to date,metabolicrelated studies on QYSLD have not been performed.In this study,a post-targeted screening strategy based on ultra-performance liquid chromatography coupled with quadrupole time-of-flight full information tandem mass spectrometry(UPLC-QTOF-MS^(E))was developed to identify QYSLD-related xenobiotics in rat urine.The chemical compound database of QYSLD constituents was established from previous research,and metabolites related to these compounds were predicted in combination with their possible metabolic pathways.The metabolites were identified by extracted ion chromatograms using predicted m/z values as well as retention time,excimer ions,and fragmentation behavior.Overall,85 QYSLD-related xenobiotics(20 prototype compounds and 65 metabolites)were characterized from rat urine.The main metabolic reactions and elimination features of QYSLD included oxidation,reduction,decarboxylation,hydrolysis,demethylation,glucuronidation,sulfation,methylation,deglycosylation,acetylation,and associated combination reactions.Of the identified molecules,14 prototype compounds and 58 metabolites were slowly eliminated,thus accumulating in vivo over an extended period,while five prototypes and two metabolites were present in vivo for a short duration.Furthermore,one prototype and five metabolites underwent the process of“appearing-disappearing-reappearing”in vivo.Overall,the metabolic profile and characteristics of QYSLD in rat urine were determined,which is useful in elucidating the active components of the decoction in vivo,thus providing the basis for studying its mechanism of action.

Determination of reference intervals for metabolic profile of Hanwoo cows at early, middle and late gestation periods

Background： Metabolic profile was initially designed as a presymptomatic diagnostic aid based on statistical analyses of blood metabolites to provide an early warning of certain types of metabolic disorder. However, there is little metabolic profile data available about Korean Hanwoo cows. Therefore, this study aimed to determine the reference intervals of metabolic profile for Korean Hanwoo cows. Methods： Healthy animals （2,205） were selected and divided into early （day 1 to 95）, middle （day 96 to 190） and late （day 191 to 285） period according to their gestating period. Metabolic profile including total protein （TP）, albumin （AIb）, urea （UREA）, glucose （Glu）, total cholesterol （T-Cho）, long-chain fatty acid （LCFA）, aspartate aminotransferase （AST）, gamma-glutamyl transpeptidase （GGT）, creatinine （Crea）, calcium （Ca）, inorganic phosphorous （iP） and magnesium （Mg） were analyzed using a TBA-4OFR automatic biochemical analyzer. The data of Korean Hanwoo cows were then compared to those of the Japanese Wagyu cows. Results： Most of the data of the Korean Hanwoo cows were relatively higher than those of Japanese Wagyu cows, with the exception of Glu and GGT. This may indicate that the nutritional level of feed for the Korean Hanwoo cows was higher than that of the Japanese Wagyu cows because of the different feeding system. In particular, relatively higher levels of UREA and LCFA were observed in the Korean Hanwoo cows, and this may also contribute to the low reproduction efficiency. Conclusions： These findings may provide some theoretical basis for understanding the reproductive and feeding situation of Korean Hanwoo cows.

Metabolic profile analysis based on GC-TOF/MS and HPLC reveals the negative correlation between catechins and fatty acids in the cottonseed of Gossypium hirsutum

Background: The diversified and high value-added utilization of cotton by products can promote the sustainable development of modern agriculture. Di erences in potential nutrients among varieties can be explained by variations in the composition and abundance of fatty acids, polyphenols, carbohydrates, amino acids, and organic acids. Therefore, the analysis of metabolite species and relationships in cottonseed is meaningful for the development of cotton byproducts.Results: In this study, the metabolomes of three representative cotton cultivars of di erent species were compared using untargeted GC-TOF/MS analysis. A total of 263 metabolites were identified from 705 peaks, and their levels were compared across cultivars. Principal component analysis and OPLS-DA clearly distinguish these samples based on metabolites. There were significant di erences in the contents of amino acids, carbohydrates, organic acids, flavonoids, and lipids in G. hirsutum TM-1 compared with G. arboreum Shixiya1 and G. barbadense Hai7124. Notably, the bioactive nutrient compound catechin obtained from the di erential metabolites significantly accumulated in TM-1. Furthermore, a comprehensive analysis using catechin and oil-related traits was conducted in core collections of Gossypium hirsutum. The results revealed the reliability of the GC-TOF/MS analysis, as well as that catechin content has a negative association with myristic acid, palmitic acid, stearic acid, oleic acid, linoleic acid, arachidic acid, and total fatty acids.Conclusion: These findings suggest that untargeted GC-TOF/MS analysis could provide a new method for investigating the underlying plant biochemistry of nutrient variation in cottonseed, and that catechin content has a negative association with oil-related traits in cottonseed. This study may pave the way to exploit the value of cotton byproducts.

Metabolic and physiological regulation of Chlorella sp.(Trebouxiophyceae, Chlorophyta) under nitrogen deprivation

A freshwater green microalgae Chlorella sp., UMACC344 was shown to produce high lipid content and has the potential to be used as feedstock for biofuel production. In this study, photosynthetic effciency, biochemical pro?les and non-targeted metabolic pro?ling were studied to compare between the nitrogen-replete and deplete conditions. Slowed growth, change in photosynthetic pigments and lowered photosynthetic effciency were observed in response to nitrogen deprivation. Biochemical pro?les of the cultures showed an increased level of carbohydrate, lipids and total fatty acids, while the total soluble protein content was lowered. A trend of fatty acid saturation was observed in the nitrogen-deplete culture with an increase in the level of saturated fatty acids especially C16:0 and C18:0, accompanied by a decrease in proportions of monounsaturated and polyunsaturated fatty acids. Fifty-nine metabolites, including amino acids, lipids, phytochemical compounds, vitamins and cofactors were signi?cantly dysregulated and annotated in this study. Pathway mapping analysis revealed a rewiring of metabolic pathways in the cells, particularly purine, carotenoid, nicotinate and nicotinamide, and amino acid metabolisms. Within the treatment period of nitrogen deprivation, the key processes involved were reshu ? ing of nitrogen from proteins and photosynthetic machinery, together with carbon repartitioning in carbohydrates and lipids.

Metabolic and Anthropometric Effects of NADH RAPID ENERGY in Diabetic Type 2

Twenty patients with diabetes type-2, aged between 38 and 61 years, with at least one cardiovascular risk factor were divided in two groups （Group-1 included newly diagnosed type 2 diabetic patients without treatment with oral antidiabetic OAD, Group-2： patients with diabetes type 2 under OAD ＋/- insulin （N = 11））. Patients from both groupswere taking Nicotinamide Adenine Dinucleotide （NADH） Rapid Energy 80 mg/day in two takes for a period of 56 days. A greater reduction in average fasting glucose and HbAlc after 56 days was observed in the patients of group 1 not taking metformin compared to patients of group-2 which were taking metformin. Why metformin reduces the anti-diabetic effect of NADH will be discussed.

Nutritional and Metabolic Profile in Diabetic Patients and Relationship with Metabolic Syndrome

Background & Objectives: Diabetes and metabolic syndrome spread alarmingly throughout the whole world including Algeria, so our study makes the links closer between these two entities and that through studying nutritional, metabolic and physical profiles. Study Design: 204 patients were recruited and interviewed (anthropometric measurements, blood pressure, age, sex, personal and family history, the practice of physical activity and evaluation of food consumption). Patients and Methods: A cross-sectional survey was conducted in the western Algerian region (Sidi Bel Abbes). Patients with MetS are defined according to the criteria of the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III). Results: The results show that the frequency of the metabolic syndrome is 86.27% with predominance of women (92.15% women vs 80.39% men). The age group most affected by the MetS among women and men is [54 - 79] years. We also note that 51.28% of men present three criteria of MetS, while 65.21% of women have four and five criteria. The results show that the criteria most dominant in men are hypertension and type 2 diabetes, whereas in women, the high waist is the most abundant criterion. Moreover, the whole is underlined by a low physical activity with only 21.56% who practice it regularly (15.95% women vs 28.04% men). The estimate of food intake shows a qualitative imbalance: protein intake is 19.65% in women vs. 19.43% in men represented mainly by vegetable protein (83.72% for women vs. 72.85% for men);lipids intake is characterized by a lower consumption than the recommendation of the Mediterranean diet concerning the mono-unsaturated fatty acids (MUFA) (39.44% among women vs 40.24% at the men), as in poly unsaturated fatty-acids including (PUFA) (23.30% among women vs 23.64% at the men) whereas an increase in the consumption of the saturated fatty-acids (SFA) is observed in the whole population including (37.24% among women vs 36.10% at the men);lower concentration in calcium, magnesium and en fibers;important concentration of sodium and an insufficient contribution of water. Conclusion: We should be aware of the importance of the modulation of these risk factors through harmonization of “lifestyle” to prevent the occurrence of metabolic syndrome.

Diagnosis of an intermediate case of maple syrup urine disease:A case report

BACKGROUND Maple syrup urine disease(MSUD)is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids(BCAAs).However,the clinical and metabolic screening is limited in identifying all MSUD patients,especially those patients with mild phenotypes or are asymptomatic.This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis.CASE SUMMARY This study reports the diagnostic process of a boy with intermediate MSUD.The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age.Preliminary clinical and metabolic profiling did not support a specific disease.However,whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene,confirming the proband as having MSUD with non-classic mild phenotypes.His clinical and laboratory data were retrospectively analyzed.According to his disease course,he was classified into an intermediate form of MSUD.His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD.In addition,genetic counseling and prenatal diagnosis were provided to his parents.CONCLUSION Our work provides diagnostic experience of an intermediate MSUD case,suggesting that a genetic analysis is important for ambiguous cases,and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.