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1.
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Rostami, P, Hosseinpour, S, Ashrafi, MR, Alizadeh, H, Garshasbi, M, Tavasoli, AR
Acta neurologica Belgica. 2020;(3):511-516
Abstract
Creatine is the main source of energy for the brain. Primary creatine deficiency syndromes (PCDSs) are inborn error of metabolism of creatine synthesis. Symptoms of central nervous system involvement are the most common clinical manifestations in these disorders. We reviewed medical records of all genetically confirmed patients diagnosed by whole exome sequencing who were referred to Myelin and Neurodegenerative Disorders Clinic, Children's Medical Center, Tehran, Iran, from May 2016 to Dec 2018. A literature review was conducted on clinical and genomic variability of PCDS to compare our patients with previously reported cases. We report two patients with creatine deficiency among a cohort of 550 registered cases out of which 200 patients had a genetically confirmed neurodegenerative disorder diagnosis. The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of "c.92 > T; p.Pro31Leu" in the first exon of SLC6A8 gene. The second patient with guanidinoacetate methyltransferase (GAMT) deficiency had an unknown motor and speech delay as the striking manifestation and molecular assay revealed a novel homozygote variant of "c.134G > A; p.Trp45*" in the first exon of GAMT gene. PCDSs usually are associated with nonspecific neurologic symptoms. The first presented case had a mean delayed diagnosis of 5 years. Therefore, in children with unexplained neurologic features including developmental delay and/or regression, mental disability and repeated seizures without any significant findings in metabolic studies, PCDSs can be considered as a differential diagnosis and molecular analysis can be helpful for the precise diagnosis and treatment.
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2.
Omega-3 and omega-6 polyunsaturated fatty acids and metabolic syndrome: A systematic review and meta-analysis.
Jang, H, Park, K
Clinical nutrition (Edinburgh, Scotland). 2020;(3):765-773
Abstract
BACKGROUND & AIMS Previous studies suggest that polyunsaturated fatty acids (PUFAs) may reduce the risk of metabolic diseases, but some have shown ambiguous results. The aim of this study was to systematically evaluate and summarize available evidence on the association between omega-3 and omega-6 PUFA levels and risk of metabolic syndrome (MetS). METHODS A systematic literature search of articles published until December 2017 was conducted in PubMed, Web of Science, and Cochrane Library databases. Meta-analyses of the highest vs. lowest categories of omega-3 and omega-6 PUFAs were conducted using the random effects models. RESULTS Thirteen studies (2 case-control, 9 cross-sectional, 1 nested case-control, and 1 prospective cohort) with 36,542 individuals were included. Higher omega-3 PUFA levels in diets or blood were associated with a 26% reduction in the risk of MetS (odds ratio (OR)/relative risk (RR) 0.74, 95% confidence interval (CI) 0.62-0.89). This inverse association was evident among studies with Asian populations (OR/RR 0.69, 95% CI 0.54-0.87), but not among those with American/European populations (OR/RR 0.84, 95% CI 0.55-1.28). Null results were found regarding the association between circulating/dietary omega-6 PUFAs and MetS. CONCLUSION The present meta-analysis indicates that higher intakes of omega-3 PUFAs, but not omega-6 PUFAs, was associated with lower MetS risk; adding to the current body of evidence on the metabolic health effects of circulating/dietary omega-3 PUFAs.
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Intra-abdominal fat accumulation is an important predictor of metabolic syndrome in young adults.
Kobayashi, M, Ogawa, S, Tayama, J, Sagara, I, Takeoka, A, Bernick, P, Kawano, T, Abiru, N, Hayashida, M, Shirabe, S
Medicine. 2020;(37):e22202
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Abstract
Metabolic syndrome (MetS), mainly caused by intra-abdominal fat (IAF) accumulation, is an important risk factor for cardiovascular disease. The prevalence of MetS increases rapidly after the age of 40 years, and it is presumed that there is a substantial proportion of MetS in younger age groups. However, the association of IAF with MetS in adults aged 20 to 30 years has not been fully investigated.This study aimed to determine the prevalence of MetS and to verify whether IAF accumulation is associated with other MetS-related metabolic disorders including dyslipidemia, high blood pressure, and high blood glucose among the Japanese population in their 20s.In this cross-sectional study, IAF area (IAFA) and MetS-related metabolic parameters were evaluated in university students in their 20s (n = 1822, 21.5 ± 1.5 years). IAFA was measured using a non-invasive device, DUALSCAN, which can be readily measured through the dual impedance method. The participants were divided into four groups according to IAFA 0-49.9, 50-74.9, 75-99.9, and ≥100 cm.MetS was prevalent in 3.3% and 0.0% of the males and females, respectively, according to the Japanese criteria of MetS. The sex- and lifestyle-adjusted odds ratios (ORs) for the three metabolic component levels of Mets were elevated in the larger IAFA groups compared to the smallest IAFA group, according to the level of IAFA. The levels particularly increased in participants with abdominal obesity, defined by both, IAFA and waist circumference rather than by waist circumference alone.IAF accumulation was significantly associated with MetS-related metabolic disorders in young adults. An evaluation of IAFA may contribute to the early prediction of the risk of developing MetS in the future.
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Prevalence and Clinical Characteristics of Children and Adolescents with Metabolically Healthy Obesity: Role of Insulin Sensitivity.
Vinciguerra, F, Tumminia, A, Baratta, R, Ferro, A, Alaimo, S, Hagnäs, M, Graziano, M, Vigneri, R, Frittitta, L
Life (Basel, Switzerland). 2020;(8)
Abstract
Obesity represents a major risk factor for metabolic disorders, but some individuals, "metabolically healthy" (MHO), show less clinical evidence of these complications, in contrast to "metabolically unhealthy" (MUO) individuals. The aim of this cross-sectional study is to assess the prevalence of the MHO phenotype in a cohort of 246 overweight/obese Italian children and adolescents, and to evaluate their characteristics and the role of insulin resistance. Homeostasis model assessment-insulin resistance (HOMA-IR), insulin sensitivity index (ISI), insulinogenic index (IGI) and disposition index (DI) were all calculated from the Oral Glucose Tolerance Test (OGTT). MHO was defined by either: (1) HOMA-IR < 2.5 (MHO-IRes), or (2) absence of the criteria for metabolic syndrome (MHO-MetS). The MHO prevalence, according to MHO-MetS or MHO-IRes criteria, was 37.4% and 15.8%, respectively. ISI was the strongest predictor of the MHO phenotype, independently associated with both MHO-IRes and MHO-MetS. The MHO-MetS group was further subdivided into insulin sensitive or insulin resistant on the basis of HOMA-IR (either < or ≥ 2.5). Insulin sensitive MHO-MetS patients had a better metabolic profile compared to both insulin resistant MHO-MetS and MUO-MetS individuals. These data underscore the relevance of insulin sensitivity to identifying, among young individuals with overweight/obesity, the ones who have a more favorable metabolic phenotype.
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Farnesoid X Receptor Agonists as Therapeutic Target for Cardiometabolic Diseases.
Li, C, Yang, J, Wang, Y, Qi, Y, Yang, W, Li, Y
Frontiers in pharmacology. 2020;:1247
Abstract
Cardiometabolic diseases are characterized as a combination of multiple risk factors for cardiovascular disease (CVD) and metabolic diseases including diabetes mellitus and dyslipidemia. Cardiometabolic diseases are closely associated with cell glucose and lipid metabolism, inflammatory response and mitochondrial function. Farnesoid X Receptor (FXR), a metabolic nuclear receptor, are found to be activated by primary BAs such as chenodeoxycholic acid (CDCA), cholic acid (CA) and synthetic agonists such as obeticholic acid (OCA). FXR plays crucial roles in regulating cholesterol homeostasis, lipid metabolism, glucose metabolism, and intestinal microorganism. Recently, emerging evidence suggests that FXR agonists are functional for metabolic syndrome and cardiovascular diseases and are considered as a potential therapeutic agent. This review will discuss the pathological mechanism of cardiometabolic disease and reviews the potential mechanisms of FXR agonists in the treatment of cardiometabolic disease.
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Molecular mechanisms of liver damage during neoadjuvant treatment for hepatic metastases of colorectal cancer.
Gmijovic, M, Pecic, V, Stojanovic, M
Annali italiani di chirurgia. 2020;:291-297
Abstract
BACKGROUND The main drawbacks of neoadjuvant chemotherapy of colorectal liver cancer metastases are related to the toxic liver damage. To determine the degree of biochemical and morphologic liver damage after therapeutic protocol treatment with "bevacizumab plus FOLFOX IV", as well as the correlation between the sex, age, the existence of metabolic syndrome, the length of neoadjuvant therapy treatment and the degree of liver damage. METHODS The study includes the total of 60 colorectal cancer metastases operated patients, divided into two groups of 30 patients: the group of patients who were treated with "bevacizumab plus FOLFOX IV" protocol as a neoadjuvant therapy - prior to liver metastases surgery and the control group, patients with the liver resection done without previous neoadjuvant chemotherapy. The following parameters were examined: biochemical liver function parameters, the presence of metabolic syndrome, pathohistological assessment of the degree of steatosis and SOS syndrome. RESULTS The increase in AF was observed in the experimental group (Z = 2.566, p = 0.010), Dbilirubin (Z = 1.970, p = 0.037), LDH (Z = 2.951, p = 0.003) and decrease in albumin values (t = 5.100, p <0.001). The pathohistological examination in only 3.3% showed moderate liver steatosis, while SOS syndrome was recorded in as many as two-thirds (66.66%) of patients in the study group. In 14 patients (46.7%) a mild degree was registered, and in 6 (20.0%) moderate levels of this type of liver damage. Pole (p = 0.13), age (p = 0.09) and length of administration of chemotherapy (p = 0.35), as well as the presence of metabolic syndrome (χ2 = 0.390, p = 0.830), did not have any statistically significant effect on the liver damage degree. CONCLUSION In our study, after the administration of the "bevacizumab plus FOLFOX IV" protocol, a statistically significant increase in AF, Dbilirubin and LDH, as well as a decrease in albumin values, were found. Dominant liver damage was by type of SOS syndrome (66.7%), while steatosis of the liver was recorded in only 3.3% of patients. Gender, age, the presence of metabolic syndrome and the number of chemotherapy cycles did not have any statistic significance on the biochemical parameters and morphological degree of liver damage. KEY WORDS Colorectal cancer metastases, Liver surgery, Oncology, Neoadjuvant chemotherapy, Liver damage.
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Gender differences in the modifiable risk factors associated with the presence of prediabetes: A systematic review.
Siddiqui, S, Zainal, H, Harun, SN, Sheikh Ghadzi, SM, Ghafoor, S
Diabetes & metabolic syndrome. 2020;(5):1243-1252
Abstract
BACKGROUND Prediabetes is a risk state for the future development of type 2 diabetes. Previously, it was evident that the risk factors for diabetes differ by gender. However, conclusive evidence regarding the gender difference in modifiable risk factors associated with the presence of pre-diabetes is still lacking. AIMS To systematically identify and summarize the available literature on whether the modifiable risk factors associated with prediabetes displays similar relationship in both the genders. METHODS A systematic search was performed on electronic databases i.e. PubMed, EBSCOhost, and Scopus using "sex", "gender", "modifiable risk factors" and "prediabetes" as keywords. Reference list from identified studies was used to augment the search strategy. Methodological quality and results from individual studies were summarized in tables. RESULTS Gender differences in the risk factor association were observed among reviewed studies. Overall, reported association between risk factors and prediabetes apparently stronger among men. In particular, abdominal obesity, dyslipidemia, smoking and alcohol drinking habits were risk factors that showed prominent association among men. Hypertension and poor diet quality may appear to be stronger among women. General obesity showed stringent hold, while physical activity not significantly associated with the risk of prediabetes in both the genders. CONCLUSIONS Evidence suggests the existence of gender differences in risk factors associated with prediabetes, demands future researchers to analyze data separately based on gender. The consideration and the implementation of gender differences in health policies and in diabetes prevention programs may improve the quality of care and reduce number of diabetes prevalence among prediabetic subjects.
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Metabolic syndrome in postmenopausal women is associated with lower erythrocyte PUFA/MUFA and n-3/n-6 ratio: A case-control study.
Muzsik, A, Jeleń, HH, Chmurzynska, A
Prostaglandins, leukotrienes, and essential fatty acids. 2020;:102155
Abstract
The aim of this study was to compare fatty acid (FA) intake and status in postmenopausal women with or without metabolic syndrome (MetS). 131 women were recruited to a case-control study in 2016-2018 in Poznań, Poland. Dietary intake, anthropometric and biochemical measurements, FA level in red blood cells (RBCs), and FADS1 (rs174546) and FADS2 (rs3834458) genotypes were determined. Compared to women without MetS, those with MetS had lower levels of EPA, n-3, EPA/α-linolenic acid (ALA), EPA/AA, DHA/AA, EPA+DHA/AA, PUFA/saturated FA, PUFA/monounsaturated FA, and n-3/n-6 ratios in RBCs. Participants with at least one minor allele of each polymorphism had lower levels of EPA, and EPA/AA, and a higher level of DHA/EPA in RBCs than did women with major alleles. MetS is associated with lower levels FAs that have a protective effect on cardiometabolic health. FADS1 and FADS2 polymorphisms are associated with unfavorable FA and status EPA/AA in RBC contributes to MetS.
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Nutritional and dietary aspects in polycystic ovary syndrome: insights into the biology of nutritional interventions.
Neves, LPP, Marcondes, RR, Maffazioli, GN, Simões, RS, Maciel, GAR, Soares, JM, Baracat, EC
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 2020;(12):1047-1050
Abstract
Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder, which affects 5-17% of reproductive age women and is often associated with obesity and metabolic impairment. Common treatment strategies are based on exercise, diet and nutrient supplementation since PCOS is often linked with obesity and metabolic impairment. Studies have recommended that nutrition is a key factor in the health maintenance of women with PCOS, however, little is known about the subject in the context of such a disease. This narrative review aims to identify dietary and nutritional aspects of PCOS and discuss the role of nutrients in management of polycystic ovary syndrome in view of clinical trials.
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Placenta-Specific Genes, Their Regulation During Villous Trophoblast Differentiation and Dysregulation in Preterm Preeclampsia.
Szilagyi, A, Gelencser, Z, Romero, R, Xu, Y, Kiraly, P, Demeter, A, Palhalmi, J, Gyorffy, BA, Juhasz, K, Hupuczi, P, et al
International journal of molecular sciences. 2020;(2)
Abstract
The human placenta maintains pregnancy and supports the developing fetus by providing nutrition, gas-waste exchange, hormonal regulation, and an immunological barrier from the maternal immune system. The villous syncytiotrophoblast carries most of these functions and provides the interface between the maternal and fetal circulatory systems. The syncytiotrophoblast is generated by the biochemical and morphological differentiation of underlying cytotrophoblast progenitor cells. The dysfunction of the villous trophoblast development is implicated in placenta-mediated pregnancy complications. Herein, we describe gene modules and clusters involved in the dynamic differentiation of villous cytotrophoblasts into the syncytiotrophoblast. During this process, the immune defense functions are first established, followed by structural and metabolic changes, and then by peptide hormone synthesis. We describe key transcription regulatory molecules that regulate gene modules involved in placental functions. Based on transcriptomic evidence, we infer how villous trophoblast differentiation and functions are dysregulated in preterm preeclampsia, a life-threatening placenta-mediated obstetrical syndrome for the mother and fetus. In the conclusion, we uncover the blueprint for villous trophoblast development and its impairment in preterm preeclampsia, which may aid in the future development of non-invasive biomarkers for placental functions and early identification of women at risk for preterm preeclampsia as well as other placenta-mediated pregnancy complications.
