scholarly journals Metabolic Fingerprint of Turner Syndrome

2020 ◽  
Vol 9 (3) ◽  
pp. 664
Author(s):  
Jolanta Bugajska ◽  
Joanna Berska ◽  
Małgorzata Wójcik ◽  
Jerzy B. Starzyk ◽  
Krystyna Sztefko

Girls with Turner syndrome (TS) are at increased risk of developing insulin resistance and coronary artery disease as a result of hypertension and obesity frequently seen in these patients. On the other hand, it is known that obesity is associated with increased serum levels of branched-chain amino acids (BCAAs: valine; leucine and isoleucine) and aromatic amino acids. The aim of the study is to compare the metabolic fingerprint of girls with TS to the metabolic fingerprint of girls with obesity. Metabolic fingerprinting using an untargeted metabolomic approach was examined in plasma from 46 girls with TS (study group) and 22 age-matched girls with obesity (control group). The mean values of BCAAs, methionine, phenylalanine, lysine, tryptophan, histidine, tyrosine, alanine and ornithine were significantly lower in the study group than in the control (p from 0.0025 to <0.000001). Strong significant correlation between BCAAs, phenylalanine, arginine, tyrosine, glutamic acid, citrulline and alanine, and body mass index expressed as standard deviation score BMI-SDS in the patients with obesity (p from 0.049 to 0.0005) was found. In contrast; there was no correlation between these amino acids and BMI-SDS in the girls with TS. It is suggested that obesity in patients with TS is not associated with altered amino acids metabolism.

2013 ◽  
Vol 20 (5) ◽  
pp. 669-675 ◽  
Author(s):  
Serpil Erdogan ◽  
Sevilay Sezer ◽  
Eralp Baser ◽  
Ozlem Gun-Eryilmaz ◽  
Tayfun Gungor ◽  
...  

Insulin resistance is a well-documented risk factor for the development of endometrial cancer. Adiponectin and vaspin are insulin-sensitizing proteins that are secreted from adipose tissue. A clear association between serum levels of adipokines and endometrial cancer has yet to be established. The study group consisted of postmenopausal women with confirmed endometrial cancer, whereas patients with benign endometrial conditions constituted the control group. The two groups were compared in terms of insulin resistance and serum levels of adiponectin and vaspin. A total of 60 patients with confirmed endometrial cancer and 70 controls with benign endometrial conditions (polyps and atrophy) were enrolled. Median homeostasis model assessment of insulin resistance value was significantly higher in the study group compared with the control group (2.93 vs 1.27, P<0.0001), whereas mean quantitative insulin sensitivity check index value was significantly lower (0.33±0.02 vs 0.37±0.37, P<0.0001). Median values for both adiponectin and vaspin were significantly lower in patients with endometrial cancer compared with the control group (4.09 vs 17.13 μg/ml, P<0.0001 and 0.21 vs 0.39 ng/ml, P<0.0001 respectively). Low levels of both adiponectin and vaspin were found to be significantly associated with an increased risk for endometrial cancer. Following adjustment for confounding factors, the respective odds ratios for endometrial cancer in patients in the first tertile compared with those in the third tertile were 10.80 (2.76–42.24; P=0.001) and 13.23 (2.94–59.64; P=0.001). Our results show that lower levels of circulating adiponectin and vaspin levels are associated with an increased risk of developing endometrial cancer.


Author(s):  
Anjana Atteeri ◽  
Praveen Kumar Neela ◽  
Pavan Kumar Mamillapalli ◽  
Vasu M. Sesham ◽  
Sreekanth Keesara ◽  
...  

Abstract Background Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous. Aim This research work was aimed to study the association between polymorphism rs10850110 of the MYO1H gene and skeletal class-III malocclusion in our local population. Materials and Methods Thirty patients with skeletal class III due to mandibular prognathism in the study group and 30 patients with skeletal class I in the control group were selected for this study. These patients were from both sexes and above age 10 years. Based on the cephalometric values, patients were categorized into study and control groups. SNB (angle between sella, nasion and point B at nasion) greater than 82 degrees with an ANB (angle between point A, nasion and point B at nasion) of less than 0 degrees in the study group and ANB (angle between point A, nasion and point B at nasion) of 2 to 4 degrees in the control group were categorized. The polymorphism (rs10850110) of the MYO1H gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism. Associations were tested with SNP exact test using SNPstats software. Results The single-nucleotide polymorphism rs10850110 showed a statistically significant association with mandibular prognathism. The G allele of marker rs10850110 (5′ of myosin1H - MYO1H) was overrepresented when compared with the “A” allele in mandibular prognathism cases (p < 0.0001), and this was very significant. Conclusion These results suggest that the rs10850110 polymorphism of the MYO1H gene is associated with an increased risk for mandibular prognathism.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Artur Stolarczyk ◽  
Igor Jarzemski ◽  
Bartosz M. Maciąg ◽  
Kuba Radzimowski ◽  
Maciej Świercz ◽  
...  

Abstract Background Type 2 diabetes (T2D) is a cause of multiple complications, including retinopathy and peripheral neuropathy. These complications are well understood and believed to contribute to gait instability. Poor balance control and increased falling risk have also been reported in people with diabetic peripheral neuropathy (DPN). Patients with DPN have increased risk of falling due to decreased proprioceptive feedback. Effective balance training should improve postural control in patients with DPN. For this purpose further evaluation was conducted and balance training was designed. Methods The goal of our study was to determine values of proprioception, balance, muscle coordination and strength in patients with T2D and analyze whether biofeedback balance training with use of the Biodex Balance System could improve these parameters. To assess the fall risk the general stability index (GSI), the index of frontal-posterior (FPI) and medial–lateral (MLI) stability were evaluated. 37 patients with diagnosed type 2 diabetes mellitus were recruited to this study. Their results were compared with control group consisting of 41 healthy participants who were homogenic to the study group in terms of age and body mass index (BMI). Results There were statistically significant differences between patients with diabetes compared to healthy subjects in GSI (2.79 vs 1.1), FPI (1.66 vs 0.7), MLI (0.88 vs 0.52) and risk of falling (5.18 vs 2.72) p < 0.05. There were also statistically significant changes before and after training in all stability indices (GSI: 2.79 vs 1.26, FPI: 1.66 vs 0.77, MLI: 0.88 vs 0.54 accordingly) p < 0.05 and risk of falling (5.18 vs 3.87) p < 0.05 in the study group who had undergone training with biofeedback. Conclusions This study found that there is a decreased balance and motor coordination and an increased risk of falling in patients with type 2 diabetes. These parameters improved in patients who have undergone training programme with biofeedback. Furthermore, an age-dependent deprivation of static balance was observed along with an increased risk of falling as a result of increasing BMI.


2021 ◽  
Vol 10 (11) ◽  
pp. 2355
Author(s):  
Dean Decter ◽  
Nissim Arbib ◽  
Hila Markovitz ◽  
Daniel S. Seidman ◽  
Vered H. Eisenberg

We compared the prevalence of ultrasound signs of adenomyosis in women with endometriosis who underwent surgery to those who were managed conservatively. This was a retrospective study of women evaluated at a tertiary endometriosis referral center who underwent 2D/3D transvaginal ultrasound. Adenomyosis diagnosis was based on the presence of at least three sonographic signs. The study group subsequently underwent laparoscopic surgery while the control group continued conservative management. Statistical analysis compared the two groups for demographics, symptoms, clinical data, and sonographic findings. The study and control groups included 244 and 158 women, respectively. The presence of any, 3+, or 5+ sonographic signs of adenomyosis was significantly more prevalent in the study group (OR = 1.93–2.7, p < 0.004, 95% CI; 1.24–4.09). After controlling for age, for all findings but linear striations, the OR for having a specific feature was higher in the study group. Women in the study group with ≥ 5 sonographic signs of adenomyosis had more than twice the risk of experiencing infertility (OR = 2.31, p = 0.012, 95% CI; 1.20–4.45). Sonographic signs of adenomyosis are more prevalent in women with symptomatic endometriosis who underwent surgery compared with those who continued conservative management. Women with 5+ findings have a significantly increased risk of infertility. Adenomyosis on ultrasound should be considered in the management decisions regarding these patients.


2016 ◽  
Vol 62 (4) ◽  
pp. 582-592 ◽  
Author(s):  
Miguel Ruiz-Canela ◽  
Estefania Toledo ◽  
Clary B Clish ◽  
Adela Hruby ◽  
Liming Liang ◽  
...  

Abstract BACKGROUND The role of branched-chain amino acids (BCAAs) in cardiovascular disease (CVD) remains poorly understood. We hypothesized that baseline BCAA concentrations predict future risk of CVD and that a Mediterranean diet (MedDiet) intervention may counteract this effect. METHODS We developed a case-cohort study within the Prevención con Dieta Mediterránea (PREDIMED), with 226 incident CVD cases and 744 noncases. We used LC-MS/MS to measure plasma BCAAs (leucine, isoleucine, and valine), both at baseline and after 1 year of follow-up. The primary outcome was a composite of incident stroke, myocardial infarction, or cardiovascular death. RESULTS After adjustment for potential confounders, baseline leucine and isoleucine concentrations were associated with higher CVD risk: the hazard ratios (HRs) for the highest vs lowest quartile were 1.70 (95% CI, 1.05–2.76) and 2.09 (1.27–3.44), respectively. Stronger associations were found for stroke. For both CVD and stroke, we found higher HRs across successive quartiles of BCAAs in the control group than in the MedDiet groups. With stroke as the outcome, a significant interaction (P = 0.009) between baseline BCAA score and intervention with MedDiet was observed. No significant effect of the intervention on 1-year changes in BCAAs or any association between 1-year changes in BCAAs and CVD were observed. CONCLUSIONS Higher concentrations of baseline BCAAs were associated with increased risk of CVD, especially stroke, in a high cardiovascular risk population. A Mediterranean-style diet had a negligible effect on 1-year changes in BCAAs, but it may counteract the harmful effects of BCAAs on stroke.


2021 ◽  
pp. 16-18
Author(s):  
Nishanth Kumar ◽  
Malathi R D ◽  
Ramadevi M

Background: Diabetes mellitus is a metabolic disorder of multifactorial origin characterized by hyperglycemia and disturbances of glucose , fat and protein metabolism. Hypomagnesemia is been associated with chronic and uncontrolled diabetes mellitus. Magnesium deciency in diabetes is known to be associated with increased risk of microvascular and macrovascular complications. The aim of this study is to estimate fasting plasma glucose and serum magnesium levels and to assess the correlation of hypomagnesemia with abnormal fasting plasma glucose values. Material and Methods: The study was done at Government Medical College, Nizamabad. 80 subjects were recruited out of whom 40 apparently normal persons were taken as control group and the second group of 40 patients with known history of diabetes. The fasting plasma glucose(FPG) was estimated by GOD-POD method and serum Magnesium(Mg) levels were estimated using the Chemchek Mg kit which is based on Xylidyl Blue with ACTS method. Results :The mean values of fasting plasma glucose was 87.1 mg/dL in non diabetics when compared to 159.4 mg/dL in diabetics while Serum magnesium levels in control subjects had a mean value of 2.19mg/dLand 1.8mg/dLin diabetics. The data was analysed and found to be statistically signicant with a negative correlation between plasma magnesium and fasting blood glucose. Conclusion: There is signicant hypomagnesaemia which correlates increased fasting plasma glucose values in diabetics when compared to non diabetics and therefore assessing the serum magnesium levels may help in reducing risk of complications.


2019 ◽  
Vol 7 (1) ◽  
pp. 88-91 ◽  
Author(s):  
Valentina Tofiloska ◽  
Maria Krstevska ◽  
Ana Daneva-Markova ◽  
Viktorija Jovanovska

BACKGROUND: Postmenopausis is a period that begins one year after the last menstrual period. Abnormal uterine bleeding could be of different origins. AIM: This study aimed to determine the association of serum estrogen hormone levels and obesity with the occurrence of endometrial bleeding in post-menopausal women. MATERIAL AND METHODS: Prospective clinical study involving 120 postmenopausal patients treated at the University Clinic for Gynecology and Obstetrics-Skopje, divided into two groups: control and study. The control group consisted of 40 postmenopausal patients without endometrial bleeding, hospitalised and operated due to urogenital pathology. The study group consisted of 80 patients with endometrial bleeding who were divided into three subgroups according to the thickness of the endometrium: from 5-8 mm, 8-11 mm and above 11 mm. In all subjects, estradiol and BMI was determined. RESULTS: Estradiol levels were statistically higher in the study group compared to control while statistically significant difference among the three subgroups according to the thickness of the endometrium about the levels of estradiol in blood is not found. About BMI, the results showed that there was no statistical significance between the two examined groups. CONCLUSION: Patients with endometrial bleeding have increased levels of estradiol and are at increased risk of endometrial cancer about controls, the likelihood of endometrial cancer significantly increases by 1,108 times.


2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Xiaoyu Liao ◽  
Bingyao Liu ◽  
Hua Qu ◽  
LinLin Zhang ◽  
Yongling Lu ◽  
...  

Background. High levels of branched-chain amino acids (BCAAs) and aromatic amino acids (AAAs) were associated with an increased risk of hyperglycemia and the onset of diabetes. This study is aimed at assessing circulating valine concentrations in subjects with type 2 diabetes (T2D) and in T2D patients and high-fat diet- (HFD-) fed mice treated with the hypoglycemic agent sitagliptin (Sit) and analyzing the association of valine concentrations with metabolic parameters. Methods. Metabolomics in HFD-fed mice were analyzed by gas chromatography-mass spectrometry (GC-MS) systems. Plasma valine concentrations were detected with a commercial kit in 53 subjects with normal glucose levels (n=19), newly diagnosed T2D (n=20), placebo-treated T2D (n=7), or Sit-treated T2D (n=7). Biochemical parameters were also assessed in all participants. Results. Sit treatment markedly changed the pattern of amino acid in HFD-fed mice, especially by reducing the level of the BCAA valine. Compared with the healthy controls, the plasma valine concentrations were significantly higher in the T2D patients (p<0.05). Correlation analysis showed that the plasma valine concentration was positively correlated with the level of fasting plasma glucose (p<0.05). Moreover, the plasma valine concentrations were notably reduced after Sit treatment in T2D patients (p<0.05). Conclusions. Our findings demonstrate an important effect of Sit on the BCAA valine in T2D patients and HFD-fed mice, revealing a new hypoglycemic mechanism of it. Furthermore, the results suggest that the circulating valine level might be a novel biomarker for T2D and restoring the level of valine might be a potential strategy for diabetes therapy.


2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Areeg E. Elemam ◽  
Nisreen D. Omer ◽  
Neima M. Ibrahim ◽  
Ahmed B. Ali

Background. The current study investigated the effect of dipping tobacco (DT) use on arterial wall stiffness which is a known marker of increased risk of cardiovascular events. Methods. A case-control study which included 101 adult males was carried out in Al-Shaab Teaching Hospital. Blood pressure and pulse wave analysis parameters were recorded in 51 DT users (study group) before and after 30 minutes of placing tobacco and in 50 nontobacco users (control group). Anthropometric measurements were collected using data collection sheet. Data were entered into a computer and analyzed by using the software Statistical Package for the Social Sciences (SPSS) version 20 (SPSS Inc., Chicago, IL, USA). Results. At baseline measurements, heart rate (HR) was significantly lower in the study group compared to the control group ( 66.15 ± 9.21 vs. 72.87 ± 10.13 beats/min; P value ≤ 0.001). Subendocardial viability ratio (SEVR) was significantly higher in the study group compared to the control group ( 203.44 ± 30.34 vs. 179.11 ± 30.51 % ; P value ≤ 0.001). Acute effects of DT compared to pretobacco dipping showed significant increase in HR ( 72.50 ± 10.89 vs. 66.15 ± 9.21 beats/min; P value ≤ 0.001) and significant decrease in augmentation pressure (AP) (4.30 (2.30-8.00) vs. 3.30 (0.60-6.3) mmHg; P value ≤ 0.001), ejection duration (ED) ( 271.65 ± 19.42 vs. 279.53 ± 20.47   ms ; P value ≤ 0.001), and SEVR ( 187.11 ± 29.81 vs. 203.44 ± 30.34 ; P value ≤ 0.001). Linear regression analysis for AP predictor showed that only HR and AIx@75 affect and predict the values of AP ( Beta ± SE ; − 0.242 ± 0.019 , P value ≤ 0.001; 0.685 ± 0.014 , P value ≤ 0.001). Conclusions. Long-term use of DT was not associated with permanent changes in heart rate and blood pressure. Acute tobacco dipping caused an acute increase in heart rate and oxygen demands of myocardium.


2018 ◽  
Vol 9 (1) ◽  
pp. 99-105 ◽  
Author(s):  
Ekkehard Kunze ◽  
Nadine Lilla ◽  
Christian Stetter ◽  
Ralf-Ingo Ernestus ◽  
Thomas Westermaier

Abstract Background To analyze whether magnesium has a neuroprotective effect during episodes that indicate a critical brain perfusion after aneurysmal subarachnoid hemorrhage (SAH). Methods 107 patients with aSAH were randomized to continuously receive intravenous magnesium sulfate with target serum levels of 2.0 – 2.5 mmol/l (n = 54) or isotonic saline (n = 53). Neurological examination and transcranial Doppler sonography (TCD) were performed daily, Perfusion-CT (PCT) was acquired in 3-day intervals, angiography in case of suspected vasospasm. The primary endpoint was the development of secondary infarction following episodes of delayed ischemic neurological deficit (DIND), elevated mean flow velocity (MFV) in TCD or pathological findings in PCT. Results In the magnesium group, 9 episodes of DIND were registered, none was followed by secondary infarction. In the control group, 23 episodes of DIND were registered, 9 were followed by secondary infarction (p < 0.05). In the magnesium group, 114 TCD-measurements showed an elevated MFV(> 140 cm/s). 7 were followed by new infarction. In control patients, 135 measurements showed elevated MFV, 32 were followed by new infarction (p < 0.05). 10 of 117 abnormal PCT-findings were followed by new infarction, compared to 30 of 122 in the control-group (p < 0.05). Conclusion DIND, elevated MFV in TCD and abnormal PCT are findings which are associated with an increased risk to develop delayed secondary infarction. The results of this analysis suggest that magnesium-treatment may reduce the risk to develop infarction in a state of critical brain perfusion.


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