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1.
PLoS One ; 19(5): e0298161, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38691570

RESUMEN

INTRODUCTION: The RISKMet project aims to: (1) identify risk factors for metabolic syndrome (MetS) by comparing patients with and without MetS; (2) characterise patients treated with second-generation antipsychotics (SGAs) about MetS diagnosis; (3) study behavioural patterns, including physical activity (PA) and dietary habits, in patients and healthy individuals using a prospective cohort design. METHOD: The RISKMet project investigates MetS in individuals treated with SGAs, focusing on both adult and paediatric populations. The study utilizes a case-control design to examine potential risk factors for MetS, categorizing participants as MetS+ considered as "Cases" and MetS- considered as "Controls" matched by sex and age. The evaluation of factors such as MetS, lifestyle habits, and environmental influences is conducted at two time points, T0 and T3, after 3 months. Subsequently, the project aims to assess body parameters, including physical examinations, and blood, and stool sample collection, to evaluate metabolic markers and the impact of SGAs. The analysis includes pharmacological treatment data and genetic variability. Behavioural markers related to lifestyle, eating behaviour, PA, and mood are assessed at both T0 and T3 using interviews, accelerometers, and a mobile app. The study aims to improve mental and physical well-being in SGA-treated individuals, establish a biobank for MetS research, build an evidence base for physical health programs, and develop preventive strategies for SGA-related comorbidities. CONCLUSIONS: This project innovates MetS monitoring in psychiatry by using intensive digital phenotyping, identifying biochemical markers, assessing familial risks, and including genetically similar healthy controls. STUDY REGISTRATION NUMBER: ISRCTN18419418 at www.isrctn.com.


Asunto(s)
Antipsicóticos , Síndrome Metabólico , Humanos , Síndrome Metabólico/inducido químicamente , Síndrome Metabólico/genética , Antipsicóticos/efectos adversos , Antipsicóticos/uso terapéutico , Factores de Riesgo , Masculino , Femenino , Adulto , Estudios de Casos y Controles , Estudios Prospectivos , Estilo de Vida , Ejercicio Físico , Persona de Mediana Edad , Niño
2.
Adv Nutr ; 15(1): 100121, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38245358

RESUMEN

Evidence of associations between ultra-processed foods (UPF) and increased risk of cardiovascular disease is emerging, but it is unclear how much this is influenced by the methodology used to assess the UPF intake or by the level of consumption. We conducted a meta-analysis to evaluate 1) the association between UPF consumption and risk of diabetes, hypertension, dyslipidemia, and obesity, using prospective cohort studies; 2) the differential associations depending on the methodology used to assess UPF intake and the level of UPF consumption and 3) the quality of evidence using the NutriGrade scoring system. A systematic literature search was conducted in PubMed/MEDLINE, ISI Web of Science, and Scopus through 1 April, 2023, on studies conducted in humans providing data for the highest compared with the lowest UPF consumption categories. Summary relative ratios (RRs) and 95% confidence intervals (95% CI) were estimated using a random-effects model. Out of 4522 articles retrieved from the literature search, 25 reports met the criteria for inclusion in the meta-analysis, 7 for diabetes, 5 for hypertension, 3 for dyslipidemia, and 13 for obesity. A consistently positive association between high UPF intake and increased risk of developing diabetes (37%), hypertension (32%), hypertriglyceridemia (47%), low HDL cholesterol concentration (43%), and obesity (32%) was observed, even if the quality of evidence was not satisfying. However, these risks varied significantly depending on the methodology used to assess UPF consumption, with a difference of more than 50% between the methods. Based on the level of intake, we did not observe significant differences in the results. These findings show that UPF consumption is associated with higher risk of diabetes, hypertension, dyslipidemia, and obesity, but the level of risk consistently changes depending on the methodology used to assess UPF intake. Therefore, caution should be used when interpreting and extrapolating the results.


Asunto(s)
Diabetes Mellitus , Dislipidemias , Hipertensión , Humanos , Diabetes Mellitus/epidemiología , Diabetes Mellitus/etiología , Dieta/efectos adversos , Dislipidemias/etiología , Alimentos Procesados , Hipertensión/epidemiología , Hipertensión/etiología , Obesidad/etiología , Estudios Prospectivos
3.
Artículo en Inglés | MEDLINE | ID: mdl-36767083

RESUMEN

BACKGROUND: Premenstrual syndrome (PMS) is a set of physical, psychological, and emotional symptoms that occur during the luteal phase of the menstrual cycle. The etiopathogenesis of this condition is not fully understood, and several studies suggest a possible role of environmental factors, such as diet. The aim of this work was to investigate the relationship between dietary habits and the occurrence and severity of PMS. METHODS AND RESULTS: Forty-seven women were enrolled in the study. Participants were asked to complete the Daily Record of Severity of Problems (DRSP) to diagnose PMS and to complete a three-day food record during the perimenstrual phase. Thirty women completed the study (16 with PMS and 14 controls). An analysis of the food diaries revealed no differences between the women with PMS and the control subjects in terms of total energy intake (1649 vs. 1570 kcal/day), diet composition, and the consumption of macro- or micronutrients, except for copper, whose consumption was higher in women with PMS than in the control subjects (1.27 ± 0.51 vs. 0.94 ± 0.49 mg/d, p < 0.05). CONCLUSIONS: The data presented here are very preliminary, and only a significant difference in copper intake was found when comparing women with PMS and controls. Larger studies are needed to better define how diet may contribute to the exacerbation of the psychological and somatic symptoms associated with PMS and whether PMS itself may influence macro- or micronutrient intake by changing dietary habits.


Asunto(s)
Cobre , Síndrome Premenstrual , Femenino , Humanos , Síndrome Premenstrual/epidemiología , Síndrome Premenstrual/psicología , Ciclo Menstrual , Conducta Alimentaria , Dieta
4.
Artículo en Inglés | MEDLINE | ID: mdl-36834186

RESUMEN

Cardiac lipotoxicity plays an important role in the pathogenesis of obesity-related cardiovascular disease. The flavonoid quercetin (QUE), a nutraceutical compound that is abundant in the "Mediterranean diet", has been shown to be a potential therapeutic agent in cardiac and metabolic diseases. Here, we investigated the beneficial role of QUE and its derivative Q2, which demonstrates improved bioavailability and chemical stability, in cardiac lipotoxicity. To this end, H9c2 cardiomyocytes were pre-treated with QUE or Q2 and then exposed to palmitate (PA) to recapitulate the cardiac lipotoxicity occurring in obesity. Our results showed that both QUE and Q2 significantly attenuated PA-dependent cell death, although QUE was effective at a lower concentration (50 nM) when compared with Q2 (250 nM). QUE decreased the release of lactate dehydrogenase (LDH), an important indicator of cytotoxicity, and the accumulation of intracellular lipid droplets triggered by PA. On the other hand, QUE protected cardiomyocytes from PA-induced oxidative stress by counteracting the formation of malondialdehyde (MDA) and protein carbonyl groups (which are indicators of lipid peroxidation and protein oxidation, respectively) and intracellular ROS generation, and by improving the enzymatic activities of catalase and superoxide dismutase (SOD). Pre-treatment with QUE also significantly attenuated the inflammatory response induced by PA by reducing the release of key proinflammatory cytokines (IL-1ß and TNF-α). Similar to QUE, Q2 (250 nM) also significantly counteracted the PA-provoked increase in intracellular lipid droplets, LDH, and MDA, improving SOD activity and decreasing the release of IL-1ß and TNF-α. These results suggest that QUE and Q2 could be considered potential therapeutics for the treatment of the cardiac lipotoxicity that occurs in obesity and metabolic diseases.


Asunto(s)
Miocitos Cardíacos , Quercetina , Humanos , Quercetina/metabolismo , Miocitos Cardíacos/metabolismo , Miocitos Cardíacos/patología , Factor de Necrosis Tumoral alfa/metabolismo , Estrés Oxidativo , Inflamación/metabolismo , Superóxido Dismutasa/metabolismo
5.
Nutrients ; 14(15)2022 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-35956421

RESUMEN

Ketogenic diets (KD) are dietary strategies low in carbohydrates, normal in protein, and high, normal, or reduced in fat with or without (Very Low-Calories Ketogenic Diet, VLCKD) a reduced caloric intake. KDs have been shown to be useful in the treatment of obesity, metabolic diseases and related disorders, neurological diseases, and various pathological conditions such as cancer, nonalcoholic liver disease, and chronic pain. Several studies have investigated the intracellular metabolic pathways that contribute to the beneficial effects of these diets. Although epigenetic changes are among the most important determinants of an organism's ability to adapt to environmental changes, data on the epigenetic changes associated with these dietary pathways are still limited. This review provides an overview of the major epigenetic changes associated with KDs.


Asunto(s)
Dieta Cetogénica , Enfermedades del Sistema Nervioso , Carbohidratos de la Dieta , Epigenoma , Humanos , Obesidad/metabolismo
6.
Artículo en Inglés | MEDLINE | ID: mdl-35162142

RESUMEN

Thyroid cancer (TC) is the most common endocrine malignancy worldwide and its incidence has increased dramatically in recent years. In parallel, the prevalence of overweight and obesity has also increased, suggesting a possible link between these two diseases. Indeed, low-grade chronic inflammation, altered cytokine levels, insulin resistance, oxidative stress, and hormonal changes that occur in obese patients are all factors that contribute to the occurrence and growth of TC. In this review, the most recent evidence supporting the potential role of the mechanisms linking obesity to TC will be discussed.


Asunto(s)
Resistencia a la Insulina , Neoplasias de la Tiroides , Humanos , Inflamación , Obesidad/complicaciones , Obesidad/epidemiología , Sobrepeso , Neoplasias de la Tiroides/epidemiología , Neoplasias de la Tiroides/etiología
7.
Ir J Med Sci ; 191(4): 1759-1766, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34562193

RESUMEN

BACKGROUND: Smell and taste dysfunctions (STDs) are symptoms associated with COVID-19 syndrome, even if their incidence is still uncertain and variable. AIMS: In this study, the effects of SARS-CoV-2 infection on chemosensory function have been investigated using both a self-reporting questionnaire on smell and flavor perception, and a simplified flavor test. METHODS: A total of 111 subjects (19 hospitalized [HOS] and 37 home-isolated [HI] COVID-19 patients, and 55 healthy controls [CTRL]) were enrolled in the study. They received a self-evaluation questionnaire and a self-administered flavor test kit. The flavor test used consists in the self-administration of four solutions with a pure olfactory stimulus (coffee), a mixed olfactory-trigeminal stimulus (peppermint), and a complex chemical mixture (banana). RESULTS: After SARS-CoV-2 infection, HOS and HI patients reported similar prevalence of STDs, with a significant reduction of both smell and flavor self-estimated perception. The aromas of the flavor test were recognized by HI and HOS COVID-19 patients similarly to CTRL; however, the intensity of the perceived aromas was significantly lower in patients compared to controls. CONCLUSION: Data reported here suggests that a chemosensory impairment is present after SARS-CoV-2 infection, and the modified "flavor test" could be a novel self-administering objective screening test to assess STDs in COVID-19 patients. CLINICAL TRIAL REGISTRATION NO: NCT04840966; April 12, 2021, retrospectively registered.


Asunto(s)
COVID-19 , Trastornos del Olfato , Estudios de Casos y Controles , Humanos , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/etiología , SARS-CoV-2 , Olfato , Trastornos del Gusto/complicaciones
8.
Biomedicines ; 9(11)2021 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-34829943

RESUMEN

The incidence of obesity has dramatically increased over the last decades. Recently, there has been a growing interest in the possible association between the pandemics of obesity and some endocrine-disrupting chemicals (EDCs), termed "obesogens". These are a heterogeneous group of exogenous compounds that can interfere in the endocrine regulation of energy metabolism and adipose tissue structure. Oral intake, inhalation, and dermal absorption represent the major sources of human exposure to these EDCs. Recently, epigenetic changes such as the methylation of cytosine residues on DNA, post-translational modification of histones, and microRNA expression have been considered to act as an intermediary between deleterious effects of EDCs and obesity development in susceptible individuals. Specifically, EDCs exposure during early-life development can detrimentally affect individuals via inducing epigenetic modifications that can permanently change the epigenome in the germline, enabling changes to be transmitted to the next generations and predisposing them to a multitude of diseases. The purpose of this review is to analyze the epigenetic alterations putatively induced by chemical exposures and their ability to interfere with the control of energy metabolism and adipose tissue regulation, resulting in imbalances in the control of body weight, which can lead to obesity.

9.
Nutrients ; 13(10)2021 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-34684487

RESUMEN

Since the Italian iodoprophylaxis strategy is based on the use of iodized salt, we assessed the relationship between dietary salt consumption and iodine intake in the Italian adult population. We estimated the relative contribution given by the use of iodized salt and by the iodine introduced by foods to the total iodine intake. The study population included 2219 adults aged 25-79 years (1138 men and 1081 women) from all Italian regions, participating to the Osservatorio Epidemiologico Cardiovascolare/Health Examination Survey 2008-2012 (OEC/HES), and examined for sodium and iodine intake in the framework of the MINISAL-GIRCSI Programme. Dietary sodium and total iodine intake were assessed by the measurement of 24 h urinary excretion, while the EPIC questionnaire was used to evaluate the iodine intake from food. Sodium and iodine intake were significantly and directly associated, upon accounting for age, sex, and BMI (Spearman rho = 0.298; p < 0.001). The iodine intake increased gradually across quintiles of salt consumption in both men and women (p < 0.001). The European Food Safety Authority (EFSA) adequacy level for iodine intake was met by men, but not women, only in the highest quintile of salt consumption. We estimated that approximately 57% of the iodine intake is derived from food and 43% from salt. Iodized salt contributed 24% of the total salt intake, including both discretionary and non-discretionary salt consumption. In conclusion, in this random sample of the Italian general adult population examined in 2008-2012, the total iodine intake secured by iodized salt and the iodine provision by food was insufficient to meet the EFSA adequate iodine intake.


Asunto(s)
Alimentos , Yodo/análisis , Cloruro de Sodio Dietético/análisis , Adulto , Anciano , Índice de Masa Corporal , Femenino , Humanos , Yodo/química , Italia , Masculino , Persona de Mediana Edad
10.
Nutrients ; 13(5)2021 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-34062834

RESUMEN

Monitoring the population iodine status is essential for iodine deficiency eradication. This study assessed the average dietary iodine intake and the iodine status of a random sample of the Italian general adult population. The study population included 2378 adults aged 35-79 years (1229 men and 1149 women) from all 20 Italian regions, participating in the Osservatorio Epidemiologico Cardiovascolare/Health Examination Survey 2008-2012 (OEC/HES), and were examined for iodine intake in the framework of the MINISAL-GIRCSI Programme. Dietary iodine intake was assessed by the measurement of 24 h urinary iodine excretion. The median daily iodine intake of the whole population was lower (96 µg/d, interquartile range 51-165) than the daily adequate iodine intake according to both EFSA and WHO recommendation (150 µg/d), with a significantly lower value among women (85 µg/d) compared with men (111 µg/d). Iodine intake diminished with age and increased with BMI (body mass index) in male but not in female participants, without achieving the adequate intake in any sex, age, or BMI category. In this random sample of Italian general adult population examined in 2008-2012, iodine intake still remained lower than the recommended values despite the implementation of a strategy of iodoprophylaxis based on salt iodization in 2005. These data represent a valuable reference for future monitoring of iodine status in our country.


Asunto(s)
Enfermedades Carenciales/epidemiología , Ingestión de Alimentos/fisiología , Yodo/orina , Adulto , Anciano , Índice de Masa Corporal , Enfermedades Carenciales/orina , Femenino , Encuestas Epidemiológicas , Humanos , Yodo/deficiencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Evaluación Nutricional , Fenómenos Fisiológicos de la Nutrición , Estado Nutricional , Factores Sexuales , Cloruro de Sodio Dietético , Toma de Muestras de Orina
11.
Eur J Nutr ; 60(4): 2193-2202, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33084957

RESUMEN

PURPOSE: The World Health Organization recommends reduction of salt intake to < 5 g/day and the use of iodized salt to prevent iodine deficiency states. A high prevalence of excess salt consumption and an inadequate iodine intake has been previously shown in an Italian pediatric population. It was appropriate, therefore, to analyse in the same population the relationship occurring between salt consumption and iodine intake. METHODS: The study population was made of 1270 children and adolescents. Estimates of salt consumption and iodine intake were obtained by measuring 24 h urinary sodium and iodine excretion. RESULTS: The iodine intake increased gradually across quartiles of salt consumption independently of sex, age and body weight (p < 0.001). Median iodine intake met the European Food Safety Authority adequacy level only in teenagers in the highest quartile of salt consumption (salt intake > 10.2 g/day). We estimated that approximately 65-73% of the total iodine intake was derived from food and 27-35% from iodized salt and that iodized salt made actually only 20% of the total salt intake. CONCLUSION: In this pediatric population, in face of an elevated average salt consumption, the use of iodized salt was still insufficient to ensure an adequate iodine intake, in particular among teenagers. In the perspective of a progressive reduction of total salt intake, the health institutions should continue to support iodoprophylaxis, in the context of the national strategies for salt reduction. In order for these policies to be successful, in addition to educational campaigns, it is needed that the prescriptions contained in the current legislation on iodoprophylaxis are made compelling through specific enforcement measures for all the involved stakeholders.


Asunto(s)
Yodo , Cloruro de Sodio Dietético , Adolescente , Niño , Humanos , Italia/epidemiología , Estado Nutricional , Cloruro de Sodio
12.
Artículo en Inglés | MEDLINE | ID: mdl-32033174

RESUMEN

(1) Background: Flavor is one of the main factors influencing food preferences and dietary choices, and a reduction in flavor recognition has been associated with several diseases. A novel quantitative test to assess flavor has been recently developed and validated. The aim of the present work was to define the standard of flavor recognition in the general healthy population. (2) Methods: Three hundred and forty-eight healthy volunteers (18-80 years) performed the flavor test (FT). The test consisted of the oral administration of aqueous aromatic solutions, identifying 21 different compounds. Flavor score (FS) was calculated as the sum of the properly recognized flavors (range 0-21). (3) Results: Normal ranges for FT were produced. Flavor recognition was found to decrease with age. Females obtained slightly higher scores than males, mostly at older ages. Cigarette smoking seemed not to influence flavor recognition. (4) Conclusion: The normal values found for the flavor test in the healthy population will allow its usage as a diagnostic tool in several diseases.


Asunto(s)
Aromatizantes , Voluntarios Sanos/estadística & datos numéricos , Fumar , Gusto , Factores de Edad , Italia , Factores Sexuales
14.
J Nutr Biochem ; 69: 151-162, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31096072

RESUMEN

Recently the attention of the scientific community has focused on the ability of polyphenols to counteract adverse epigenetic regulation involved in the development of complex conditions such as obesity. The aim of this study was to investigate the epigenetic mechanisms underlying the anti-adiposity effect of Quercetin (3,3',4',5,7-pentahydroxyflavone) and of one of its derivatives, Q2 in which the OH groups have been replaced by acetyl groups. In 3 T3-L1 preadipocytes, Quercetin and Q2 treatment induce chromatin remodeling and histone modifications at the 5' regulatory region of the two main adipogenic genes, c/EBPα and PPARγ. Chromatin immunoprecipitation assays revealed a concomitant increase of histone H3 di-methylation at Lys9, a typical mark of repressed gene promoters, and a decrease of histone H3 di-methylation at Lys 4, a mark of active transcription. At the same time, both compounds inhibited histone demethylase LSD1 recruitment to the 5' region of c/EBPα and PPARγ genes, a necessary step for adipogenesis. The final effect is a significant reduction in c/EBPα and PPARγ gene expression and attenuated adipogenesis. Q2 supplementation in rats reduced the gain in body weight and in white adipose tissue, as well as the increase in adipocyte size determined by high fat diet. Moreover, Q2 improved dyslipidemia, glucose tolerance and decreased the hepatic lipid accumulation by activating the expression of beta-oxidation related genes. Our data suggest that Q2, as well as Quercetin, has the potential to revert the unfavorable epigenomic profiles associated with obesity onset. This opens the possibility to use these compounds in targeted prevention strategies against obesity.


Asunto(s)
Adipogénesis/efectos de los fármacos , Benzopiranos/farmacología , Cromatina/efectos de los fármacos , Obesidad/prevención & control , Quercetina/farmacología , Células 3T3-L1 , Adipocitos/efectos de los fármacos , Adipocitos/patología , Adipogénesis/fisiología , Animales , Fármacos Antiobesidad/farmacología , Disponibilidad Biológica , Proteínas Potenciadoras de Unión a CCAAT/genética , Proteínas Potenciadoras de Unión a CCAAT/metabolismo , Supervivencia Celular/efectos de los fármacos , Cromatina/metabolismo , Dieta Alta en Grasa/efectos adversos , Epigénesis Genética/efectos de los fármacos , Histonas/metabolismo , Metabolismo de los Lípidos/efectos de los fármacos , Masculino , Ratones , Obesidad/etiología , Obesidad/metabolismo , PPAR gamma/genética , Quercetina/farmacocinética , Ratas Wistar
15.
Neurol Sci ; 40(7): 1351-1356, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30895397

RESUMEN

Gustatory perception has been poorly explored in Parkinson's disease (PD). Aim of this study was to assess the flavor ability in PD patients, using the "flavor test" (FT), a new standardized and validated tool to examine the flavor perception. Thirty-eight patients (17 F and 21 M) and 36 control subjects (15 F and 21 M) comparable for age and gender were enrolled. All the subjects underwent the flavor test (FT), the Sniffin' Sticks test (SST), and the gustometry test (GT), based on the basic four tastants ("salty," "sour," "sweet," and "bitter"). PD patients presented a FT score significantly lower than controls (p < 0.001). Olfaction (SST) was impaired in PD in comparison with controls (p < 0.001), and the patients also showed a mild reduction of basic tastant identification at the GT (p = 0.08), with a trend toward statistical significance. There was no correlation between SST, FT, and GT. GT performance was negatively correlated with disease severity (p = 0.004) and stage (p = 0.024). The SST and FT resulted abnormal in PD in comparison with controls, independently of disease duration and severity. The ability to identify the basic four tastants was correlated with the disease severity and stage in PD patients suggesting that it might occur later in the course of the disease. FT might be a sensitive tool in identifying the sensorineural perception dysfunction in PD, even in the early stage and regardless of the disease severity.


Asunto(s)
Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Trastornos del Gusto/diagnóstico , Trastornos del Gusto/etiología , Adulto , Anciano , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Índice de Severidad de la Enfermedad , Trastornos del Gusto/fisiopatología , Percepción del Gusto/fisiología
16.
Hum Reprod ; 34(1): 137-147, 2019 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-30476149

RESUMEN

STUDY QUESTION: Does the phenotype of women with normosmic congenital hypogonadotrophic hypogonadism (nCHH) and pituitary resistance to GnRH caused by biallelic mutations in the GnRH receptor (GNRHR) (nCHH/bi-GNRHR) differ from that of women with polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: Women with nCHH/bi-GNRHR have variable pubertal development but nearly all have primary amenorrhea and an exaggerated LH response to GnRH stimulation, similar to that seen in women with PCOS. WHAT IS KNOWN ALREADY: Women with nCHH/bi-GNRHR are very rare and their phenotype at diagnosis is not always adequately documented. The results of gonadotrophin stimulation by acute GnRH challenge test and ovarian features have not been directly compared between these patients and women with PCOS. STUDY DESIGN, SIZE, DURATION: We describe the phenotypic spectrum at nCHH/bi-GNRHR diagnosis in a series of 12 women. Their reproductive characteristics and acute responses to GnRH were compared to those of 70 women with PCOS. PARTICIPANTS/MATERIALS, SETTING, METHODS: Patients and controls (healthy female volunteers aged over 18 years) were enrolled in a single French referral centre. Evaluation included clinical and hormonal studies, pelvic ultrasonography and GnRH challenge test. We also functionally characterized two missense GNRHR mutations found in two new consanguineous families. MAIN RESULTS AND THE ROLE OF CHANCE: Breast development was highly variable at nCHH/bi-GNRHR diagnosis, but only one patient had undeveloped breasts. Primary amenorrhea was present in all but two cases. In untreated nCHH/bi-GNRHR patients, uterine height (UH) correlated (P = 0.01) with the circulating estradiol level and was shorter than in 23 nulliparous post-pubertal age-matched controls (P < 0.0001) and than in 15 teenagers with PCOS under 20-years-old (P < 0.0001) in which PCOS was revealed by primary amenorrhea or primary-secondary amenorrhea. Unexpectedly, the stimulated LH peak response in nCHH/bi-GNRHR patients was variable, and often normal or exaggerated. Interestingly, the LH peak response was similar to that seen in the PCOS patients, but the latter women had significantly larger mean ovarian volume (P < 0.001) and uterine length (P < 0.001) and higher mean estradiol (P < 0.001), anti-Müllerian hormone (AMH) (P = 0.02) and inhibin-B (P < 0.001) levels. In the two new consaguineous families, the affected nCHH/bi-GNRHR women carried the T269M or Y290F GNRHR missense mutation in the homozygous state. In vitro analysis of GnRHR showed complete or partial loss-of-function of the T269M and Y290F mutants compared to their wildtype counterpart. LIMITATIONS, REASONS FOR CAUTION: The number of nCHH/bi-GNRHR patients reported here is small. As this disorder is very rare, an international study would be necessary to recruit a larger cohort and consolidate the phenotypic spectrum observed here. WIDER IMPLICATIONS OF THE FINDINGS: In teenagers and young women with primary amenorrhea, significant breast and uterine development does not rule out CHH caused by biallelic GNRHR mutations. In rare patients with PCOS presenting with primary amenorrhea and a mild phenotype, the similar exaggerated pituitary LH responses to GnRH in PCOS and nCHH/bi-GNRHR patients could lead to diagnostic errors. This challenge test should therefore not be recommended. As indicated by consensus and guidelines, careful analysis of clinical presentation and measurements of testosterone circulating levels remain the basis of PCOS diagnosis. Also, analysis of ovarian volume, UH and of inhibin-B, AMH, estradiol and androgen circulating levels could help to distinguish between mild PCOS and nCHH/bi-GNRHR. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by the French National Research Agency (ANR) grant ANR-09-GENO-017 KALGENOPATH, France; and by the Italian Ministry of Education, University and Research (MIUR) grant PRIN 2012227FLF_004, Italy. The authors declare no conflict of interest.


Asunto(s)
Amenorrea/fisiopatología , Hipogonadismo/fisiopatología , Fenotipo , Síndrome del Ovario Poliquístico/fisiopatología , Receptores LHRH/genética , Adolescente , Adulto , Amenorrea/etiología , Mama/crecimiento & desarrollo , Diagnóstico Diferencial , Femenino , Humanos , Hipogonadismo/complicaciones , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Mutación , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/diagnóstico , Reproducción/fisiología , Útero/crecimiento & desarrollo , Adulto Joven
17.
Artículo en Inglés | MEDLINE | ID: mdl-30104523

RESUMEN

Several epidemiological studies suggest an increased incidence of thyroid carcinoma (TC) in recent years, especially for the papillary histotype (PTC), suggesting that specific carcinogens might promote molecular abnormalities that are typical of PTC. The increased incidence is probably attributed to more intensive and sensitive diagnostic procedures, even if recent data suggest that various toxic elements could explain the phenomenon. Ionizing radiation exposure represents the most accepted risk factor for differentiated thyroid cancer that includes both the follicular and papillary histotypes. In this review, we examined the other environmental carcinogens that play a role in TC, such as eating habits, living in volcanic areas, and xenobiotic elements. Among eating habits, iodine intake represents one of the more discussed elements, because its deficiency is associated with follicular thyroid carcinomas (FTCs), while its progressive increment seems to be responsible for PTC. The gas, ash, and lava emissions of volcanoes are composed of various toxic compounds that pollute ground water, vegetables, and animals, contaminating humans via the food chain. Finally, the risk of developing PTC has also been associated with exposure of the population to xenobiotics in the environment or in the home. Their carcinogenic effects are probably caused by their accumulation, but additional studies are necessary to better understand the mechanisms of action.


Asunto(s)
Adenocarcinoma Folicular/epidemiología , Exposición a Riesgos Ambientales , Estado Nutricional , Neoplasias de la Tiroides/epidemiología , Carcinógenos/análisis , Contaminantes Ambientales/análisis , Femenino , Humanos , Incidencia , Masculino , Factores de Riesgo
18.
Oxid Med Cell Longev ; 2017: 6101254, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28706576

RESUMEN

PURPOSE: This study was aimed at evaluating sirtuin 4 (Sirt4) levels in obese individuals, in relation to their adherence to the Mediterranean diet (MD), a healthy dietary pattern characterized by high antioxidant capacity, and markers of visceral fat storage. SUBJECTS/METHODS: Forty-three obese patients (44% males; BMI: 36.7-58.8 kg/m2) were consecutively included. PREvención con DIeta MEDiterránea (PREDIMED) and the 7-day food records were used to assess the adherence to MD and dietary pattern, respectively. Visceral adiposity index (VAI) was calculated. Sirt4 levels were detected by ELISA method. RESULTS: The majority of the obese participants (62.8%) had an average adherence to MD. Compared with average adherers, low adherers had higher BMI, energy intake, and percentage of energy from lipids, mainly saturated fat and polyunsaturated fatty acids (PUFA), and lower Sirt4 levels. After adjusting for BMI, Sirt4 levels remained negatively correlated with VAI. After adjusting for total energy intake, Sirt4 levels remained negatively associated with PREDIMED and consumption of n-3 PUFA, vitamins C and E. The threshold value of PREDIMED predicting the lowest decrease in Sirt4 levels was found at a score of 6. CONCLUSIONS: Less reduced Sirt4 levels in obese patients adhering to MD suggest a further aspect of the antioxidant advantage of MD.


Asunto(s)
Dieta Mediterránea , Proteínas Mitocondriales/genética , Obesidad/genética , Sirtuinas/genética , Estudios Transversales , Femenino , Humanos , Masculino , Proteínas Mitocondriales/metabolismo , Factores de Riesgo , Sirtuinas/metabolismo
19.
J Transl Med ; 15(1): 81, 2017 04 24.
Artículo en Inglés | MEDLINE | ID: mdl-28438173

RESUMEN

BACKGROUND: Nutrition is an environmental factor affecting bone health. Nutrition is considered essential to achieve and maintain optimal bone mass. Mediterranean diet (MD) has shown to prevent bone disease. Aim of this study is to investigate the relationship between bone health status and adherence the MD. METHODS: Four-hundred eighteen healthy people (105 males and 313 females, age 50 ± 14 years) were recruited in the outdoor hospital of the "Campus Salute Onlus" held in Piazza del Plebiscito in Naples, October 17-20th 2013 and 09-11th October 2014. All subjects underwent clinical assessment, calcaneal quantitative ultrasound (QUS) scanner and PREvención con DIeta MEDiterránea (PREDIMED) questionnaire. RESULTS: Globally, prevalence of osteoporosis and osteopenia were 7.7 and 46.0%, respectively. The majority of subjects (60.5%) had an average score (score 6-9) of adherence to MD. The T-score showed positive correlation with PREDIMED score (r = 0.250, p < 0.001). The higher T-scores were positively associated with a higher consumption of extra-virgin olive oil (EVOO), vegetables, fruits, legumes, and fish and negatively associated with consumption of red meat. The higher T-scores were positively associated with the highest odds of PREDIMED scores (higher adherence) (OR 6.91, IC 6.27-7.61, p < 0.001). Multiple regression analysis models indicated that, among the single food items investigated, high T-score can be predicted by consumption of EVOO (p < 0.001), fish (p < 0.001) and fruit (p = 0.002) intake. A PREDIMED score of 3 was found to be predictive for a low T-score (α = 0.05, R-squared index = 0.417). CONCLUSIONS: The results demonstrate a positive correlation between bone health status and adherence to MD, suggesting that a high adherence to MD promotes bone health. The observations here reported confirmed that a specific dietary approach, such as MD, can represent a modifiable environmental factor for osteoporosis' prevention.


Asunto(s)
Huesos/fisiología , Dieta Mediterránea , Antropometría , Enfermedades Óseas Metabólicas/epidemiología , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Osteoporosis/epidemiología , Prevalencia
20.
Nutrients ; 9(2)2017 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-28218645

RESUMEN

The Mediterranean diet is a healthy dietary pattern known to actively modulate the cell membrane properties. Phase angle (PhA) is a direct measure by Bioelectrical Impedance Analysis (BIA) used as marker of cell membrane integrity. Both food behaviour and PhA are influenced by age, sex and body weight. The aim of this study was to cross-sectionally evaluate the association between the adherence to Mediterranean diet and PhA in 1013 healthy adult patients stratified according to sex, age, and body mass index (BMI). The adherence to the Mediterranean diet was evaluated using the PREvención con DIeta MEDiterránea (PREDIMED) questionnaire. PhA was calculated by BIA phase-sensitive system (50 kHz BIA 101 RJL, Akern Bioresearch, Florence, Italy Akern). In both sexes, at ROC analysis a PREDIMED score ≥ 6 predicted a PhA beyond the median value. At the multivariate analysis, among PREDIMED score, age, and BMI, the PREDIMED score was the major determinant of PhA, explaining 44.5% and 47.3% of PhA variability, in males and females respectively (p < 0.001). A novel association was reported between the adherence to the Mediterranean diet and PhA, independently of sex, age, and body weight. This association uncovered a new potential benefit of the Mediterranean diet on health outcomes, as in both sexes higher adherence to the Mediterranean diet was associated to larger PhAs, as expression of cell membrane integrity.


Asunto(s)
Dieta Mediterránea , Impedancia Eléctrica , Adolescente , Adulto , Composición Corporal , Índice de Masa Corporal , Peso Corporal , Estudios Transversales , Femenino , Humanos , Italia , Modelos Lineales , Modelos Logísticos , Masculino , Persona de Mediana Edad , Evaluación Nutricional , Cooperación del Paciente , Proyectos Piloto , Encuestas y Cuestionarios , Adulto Joven
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