-
1.
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.
Jezela-Stanek, A, Siejka, A, Kowalska, EM, Hosiawa, V, Krajewska-Walasek, M
Ginekologia polska. 2020;(5):287-293
Abstract
Rare multiple congenital malformations/developmental disorders are challenging in clinical diagnosis. The introduction of next-generation sequencing (NGS) has revolutionized this diagnostic by offering multigene panels or whole-exome sequencing. However, if there is no possibility to perform NGS or if we are facing prenatal ultrasound results, clinical diagnostics is even more difficult. For a selected group of congenital metabolic disorders, resulting from defects in cholesterol biosynthesis (called cholesterolopathies), application of gas chromatography-mass spectrometry (GS-MS) may provide or orientate diagnostics. The most common of these is Smith-Lemli-Opitz syndrome (SLOS), but in this publication, we also want to introduce other cholesterolopathies and draw attention to the possibility of non-invasive prenatal diagnosis of SLOS.
-
2.
[Pregnancy after Obesity and Metabolic Surgery - Risks and Complications].
Stroh, C, Groten, T, Schleussner, E, Manger, T
Zentralblatt fur Chirurgie. 2018;(4):419-424
Abstract
The increasing prevalence of morbid obesity in Germany is associated with an increasing number of metabolic surgical interventions. Short-term surgical and long-term metabolic complications - such as nutrient deficiencies - are the main risks of metabolic surgery and the resulting malabsorption. Obesity, especially morbid obesity, is associated with a high incidence of female infertility. One important cause of female infertility in obese women is the polycystic ovary syndrome, with 6 - 10%. Metabolic surgery significantly increases the fertility of obese women. The positive effect of obesity surgery on weight loss, remission of comorbidities, psychological outcome and fertility (in comparison with the effect of conservative treatment) has led to an increase in the number of metabolic operations. Nutrient deficiencies after restrictive, combined and malabsorptive procedures must be considered. Prophylaxis of these deficiencies during pregnancy after obesity surgery must be based on intensive interdisciplinary treatment. The aim of this overview is to characterise the metabolic complications and their prophylaxis, which are specific for the various bariatric procedures and which, subsequently, require temporary or permanent surveillance and supplementation.
-
3.
[Prevention of obesity from perinatal stage].
Martínez García, RM, Jiménez Ortega, AI, González Torres, H, Ortega, RM
Nutricion hospitalaria. 2017;(Suppl 4):53-57
Abstract
Obesity is one of the major health problems and a determining factor in the prevalence of diseases such as metabolic syndrome, asthma, sleep apnea, infertility and various types of cancer. Its origin is multifactorial, involving genetic, socioeconomic and environmental factors. These last ones contribute mostly to explain the current epidemic growth of this disease. The sedentary lifestyle, inadequate diet, lack of sleep, alterations in intestinal microbiota and stress are factors related to its development. Since Barker presented his hypothesis about the "fetal origin of adult diseases", there are increasing number of studies that show the influence of an inadequate nutritional status and maternal weight in the development of chronic diseases, as obesity in offspring. The nutritional deficiencies of the pregnant mother cause epigenetic modifications and abnormal programming of the development oforgans and devices, adapting the fetus to this situation of deficiency and being able to adapt to an obesogenic environment after birth, increasing its propensity to obesity. Also, poor maternal nutritional status is related to intrauterine growth retardation and low birth weight infants, with a higher risk of childhood and adult central obesity. Currently, deficient intake of micronutrients and overweight or maternal obesity tend to overlap, and this combination may exacerbate the increase in obesity in the offspring. It is important to identify pregnant mothers at risk of suffering nutritional alterations and establish their improvement as a primary prevention strategy for overweight and obesity.
-
4.
Sedentary behavior in obese pregnant women is associated with inflammatory markers and lipid profile but not with glucose metabolism.
Nayak, M, Peinhaupt, M, Heinemann, A, Eekhoff, ME, van Mechelen, W, Desoye, G, van Poppel, MN
Cytokine. 2016;:91-98
Abstract
BACKGROUND Sedentary behavior is an independent risk factor for the metabolic syndrome, but the role of sedentary behavior in the development of gestational diabetes is unclear. OBJECTIVES This study tested the hypothesis that less sedentary behavior is related to better insulin sensitivity, lipid and cytokine profile in obese pregnant women. METHODS A longitudinal observational study with 46 overweight and obese pregnant women was conducted. Sedentary behavior was measured objectively using accelerometers at 15, 24 and 32weeks of gestation, and at those time points fasting blood was taken as well. A 100g oral glucose tolerance test was performed at 24 and 32weeks. Levels of glucose, insulin, total cholesterol, HDL, LDL, triglycerides were measured, as well as cytokines. The relationship between sedentary behavior and metabolic outcomes was assessed using linear regression analysis. RESULTS Women spent almost 60% of their time sitting throughout pregnancy. In cross-sectional analyses, an association of sedentary time at 24weeks was found with increased total cholesterol and HDL. More sedentary time was associated with lower IL-6 at 24weeks and with higher IL-10, TNF-α and leptin levels at 32weeks of pregnancy. Changes in sedentary time were not associated with changes in any of the metabolic outcomes. CONCLUSIONS In conclusion, time spent sedentary in pregnancy was associated with lipid and cytokine profile. Whether decreasing sedentary time beneficially influences lipid profile and influences cytokine profiles of overweight and obese women needs to be assessed in future intervention studies.
-
5.
Pregnancy-Associated Hypertension in Glucose-Intolerant Pregnancy and Subsequent Metabolic Syndrome.
Rice, MM, Landon, MB, Varner, MW, Casey, BM, Reddy, UM, Wapner, RJ, Rouse, DJ, Biggio, JR, Thorp, JM, Chien, EK, et al
Obstetrics and gynecology. 2016;(4):771-779
-
-
Free full text
-
Abstract
OBJECTIVE To evaluate whether pregnancy-associated hypertension (preeclampsia or gestational hypertension) among women with varying degrees of glucose intolerance during pregnancy is associated with maternal metabolic syndrome 5-10 years later. METHODS This was an observational cohort study of women previously enrolled in a treatment trial of mild gestational diabetes mellitus or an observational study of lesser degrees of glucose intolerance evaluated 5-10 years after their index pregnancy. At follow-up, women underwent anthropometric and blood pressure measurements and analysis of fasting glucose and serum lipids. RESULTS A total of 825 women (47% of eligible women from the original study) were included in this analysis and evaluated at a median 7 years after their index pregnancy at a median age of 35 years. Overall, 239 (29%) had subsequent metabolic syndrome. The frequency of metabolic syndrome and its components was highest in the women who had pregnancy-associated hypertension and delivered preterm. After adjusting for confounding factors, pregnancy-associated hypertension in women who delivered preterm was associated with subsequent hypertension (130/85 mm Hg or greater; relative risk 3.06, 95% confidence interval [CI] 1.95-4.80, P<.001), high triglycerides (150 mg/dL or greater; relative risk 1.82, 95% CI 1.06-3.14, P=.03), and metabolic syndrome (per the American Heart Association and National Heart Lung and Blood Institute Scientific Statement; relative risk 1.78, 95% CI 1.14-2.78, P=.01) compared with women who remained normotensive throughout their index pregnancy and were delivered at term. CONCLUSION Women with varying degrees of glucose intolerance who experienced pregnancy-associated hypertension and then delivered preterm had a higher frequency of subsequent hypertension, high triglycerides, and metabolic syndrome 5-10 years later.
-
6.
Polyunsaturated fatty acids in pregnancy and metabolic syndrome: a review.
Poniedzialek-Czajkowska, E, Mierzynski, R, Kimber-Trojnar, Z, Leszczynska-Gorzelak, B, Oleszczuk, J
Current pharmaceutical biotechnology. 2014;(1):84-99
Abstract
This review presents available evidence for possible application of n-3 long chain polyunsaturated fatty acids (PUFAs) in pregnant obese women with metabolic syndrome (MS) and focuses on prophylaxis of pregnancy complications associated with MS such as gestational hypertension, preeclampsia and gestational diabetes. Dietary supplementation with n-3 PUFAs has recently become popular and their adequate intake during pregnancy and early childhood is of clinical importance. The results of experimental and epidemiological investigations reveal that n-3 PUFAs, especially α- linolenic acid (ALA), eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA), may decrease the risk of cardiovascular diseases. It is believed that n-3 PUFAs affect a multitude of molecular pathways, involving regulation of gene expression, alteration of physical and chemical properties of cellular membranes and modulation of membrane channels and proteins. A large body of evidence focuses on anti-inflammatory properties of PUFAs which seem to be fundamental in prevention and reversing of insulin resistance, atherogenic dyslipidemia, hypertension, thromboembolism and in improving vascular function. Despite the potential PUFAs benefits of decreasing insulin resistance, their application in order to prevent preeclampsia, gestational hypertension and gestational diabetes mellitus in pregnant women with MS has not yet been established. Numerous reports have revealed that appropriate fetal development, including neuronal, retinal and immune function depends on EPA and DHA which are crucial also for prevention of preterm birth. Thus the supplementation with EPA and DHA is highly recommended during pregnancy although the optimal dosing and treatment strategies still need to be determined.
-
7.
The medical management of Cushing's syndrome during pregnancy.
Lim, WH, Torpy, DJ, Jeffries, WS
European journal of obstetrics, gynecology, and reproductive biology. 2013;(1):1-6
Abstract
Cushing's syndrome during pregnancy is a rare metabolic condition that is associated with high maternal and foetal morbidity. Clinical symptoms may mimic those of normal pregnancy. A diagnosis is best made based on clinical presentation, laboratory and imaging findings as well as a high index of suspicion. Medical management with anti-steroidogenic agents such as metyrapone has been shown to be effective, but surgery is usually the recommended treatment option. Its main limitation is optimal timing of the procedure in late first trimester or early second trimester to prevent spontaneous termination of pregnancy. We describe our experience and management of a 39-year-old patient with uncontrolled hypertension at 25 weeks gestation which was later diagnosed as ACTH independent Cushing's syndrome and had a favourable pregnancy outcome. The role of medical therapy and its challenges, as well as its impact on pregnancy outcomes, were explored by a literature search conducted through Pubmed and Medline databases. A total of 12 patients with Cushing's syndrome during pregnancy were reported to have been managed with metyrapone, with ketoconazole being studied to a significant degree in three cases. Of these women, 53% delivered close to term and 20% developed pre-eclampsia. Despite two neonatal deaths and one stillborn reported, medical management appeared effective in controlling hypercortisolemia during pregnancy with strict monitoring of blood pressure and foetal surveillance. It remains the only active management in the setting of pregnancy-induced Cushing's syndrome, and has shown to be a viable option in controlling serum cortisol levels especially as an adjunct to surgery as reflected in four cases. A multidisciplinary approach towards an individualised management process is warranted with medical management to ensure a safe maternal and foetal outcome.
-
8.
Epigenetic mechanisms elicited by nutrition in early life.
Canani, RB, Costanzo, MD, Leone, L, Bedogni, G, Brambilla, P, Cianfarani, S, Nobili, V, Pietrobelli, A, Agostoni, C
Nutrition research reviews. 2011;(2):198-205
Abstract
A growing number of studies focusing on the developmental origin of health and disease hypothesis have identified links among early nutrition, epigenetic processes and diseases also in later life. Different epigenetic mechanisms are elicited by dietary factors in early critical developmental ages that are able to affect the susceptibility to several diseases in adulthood. The studies here reviewed suggest that maternal and neonatal diet may have long-lasting effects in the development of non-communicable chronic adulthood diseases, in particular the components of the so-called metabolic syndrome, such as insulin resistance, type 2 diabetes, obesity, dyslipidaemia, hypertension, and CVD. Both maternal under- and over-nutrition may regulate the expression of genes involved in lipid and carbohydrate metabolism. Early postnatal nutrition may also represent a vital determinant of adult health by making an impact on the development and function of gut microbiota. An inadequate gut microbiota composition and function in early life seems to account for the deviant programming of later immunity and overall health status. In this regard probiotics, which have the potential to restore the intestinal microbiota balance, may be effective in preventing the development of chronic immune-mediated diseases. More recently, the epigenetic mechanisms elicited by probiotics through the production of SCFA are hypothesised to be the key to understand how they mediate their numerous health-promoting effects from the gut to the peripheral tissues.
-
9.
Fetoplacental vascular endothelial dysfunction as an early phenomenon in the programming of human adult diseases in subjects born from gestational diabetes mellitus or obesity in pregnancy.
Leiva, A, Pardo, F, Ramírez, MA, Farías, M, Casanello, P, Sobrevia, L
Experimental diabetes research. 2011;:349286
Abstract
Gestational diabetes mellitus (GDM) and obesity in pregnancy (OP) are pathological conditions associated with placenta vascular dysfunction coursing with metabolic changes at the fetoplacental microvascular and macrovascular endothelium. These alterations are seen as abnormal expression and activity of the cationic amino acid transporters and endothelial nitric oxide synthase isoform, that is, the "endothelial L-arginine/nitric oxide signalling pathway." Several studies suggest that the endogenous nucleoside adenosine along with insulin, and potentially arginases, are factors involved in GDM-, but much less information regards their role in OP-associated placental vascular alterations. There is convincing evidence that GDM and OP prone placental endothelium to an "altered metabolic state" leading to fetal programming evidenced at birth, a phenomenon associated with future development of chronic diseases. In this paper it is suggested that this pathological state could be considered as a metabolic marker that could predict occurrence of diseases in adulthood, such as cardiovascular disease, obesity, diabetes mellitus (including gestational diabetes), and metabolic syndrome.
-
10.
Small for gestational age and magnesium in cord blood platelets: intrauterine magnesium deficiency may induce metabolic syndrome in later life.
Takaya, J, Kaneko, K
Journal of pregnancy. 2011;:270474
Abstract
Magnesium deficiency in pregnancy frequently occurs because of inadequate or low intake of magnesium. Magnesium deficiency during pregnancy can induce not only maternal and fetal nutritional problems, but also consequences that might last in offspring throughout life. Many epidemiological studies have disclosed that small for gestational age (SGA) is associated with an increased risk of insulin resistance in adult life. We reported that intracellular magnesium of cord blood platelets is lower in SGA groups than that in appropriate for gestational age groups, suggesting that intrauterine magnesium deficiency may result in SGA. Taken together, intrauterine magnesium deficiency in the fetus may lead to or at least program insulin resistance after birth. In this review, we propose that intrauterine magnesium deficiency may induce metabolic syndrome in later life. We discuss the potential contribution of aberrant magnesium regulation to SGA and to the pathogenesis of metabolic syndrome.