Gunes Basol

Relationship between first trimester aneuploidy screening test serum analytes and placenta accreta

Abstract Objective: The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fβhCG) MoM values and placenta accreta in women who had placenta previa. Study design: A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta. As probable markers of excessive placental invasion, serum PAPP-A and fβhCG MoM values were compared in two groups with and without placenta accreta. Results: Patients with placenta accreta had higher statistically significant serum PAPP-A (1.20 versus 0.865, respectively, p = 0.045) and fβhCG MoM (1.42 versus 0.93, respectively, p = 0.042) values than patients without accreta. Conclusions: Higher first trimester serum PAPP-A and fβhCG MoM values seem to be associated with placenta accreta in women with placenta previa. Further studies are needed to use these promising additional tools for early detection of placenta accreta.

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

A 54-year-old asymptomatic man with a 5-year history of type 2 diabetes mellitus (T2DM)5 was found to have an extremely low serum cholesterol concentration. He had no history of major childhood illness, malabsorption, or any cardiovascular or neurologic dysfunction. He had smoked for 30 years and was not using alcohol or any lipid-lowering drugs. Additionally, he was not a vegetarian. His family history included stroke (father died at age 52 years) and chronic kidney disease (57-year-old brother). His eldest son had died of a suspected myocardial infarction at the age of 21 years. The patient had a blood pressure of 120/80 mmHg, a heart rate of 78 beats/min, and a body mass index of 32 kg/m2. The results of a physical examination were normal. Hepatic steatosis and mild hepatomegaly were observed via abdominal ultrasonography. A transthoracic echocardiogram was normal, and the results of a treadmill exercise test (Bruce protocol) were negative. Laboratory studies were performed. Serum concentrations of liver enzymes, results of thyroid function tests, and values of hematology parameters were all normal, as were those for serum bilirubin, creatinine, urea nitrogen, uric acid, and calcium. The fasting serum glucose concentration was increased [155 mg/dL (8.6 mmol/L); reference interval, 60–110 mg/dL (3.33–6.11 mmol/L)], and the patients hemoglobin A1c value was 7% (reference interval, 4%–6%). The laboratory results for serum lipids, lipoproteins, apolipoproteins, proteins, immunoglobulins, and fat-soluble vitamins and provitamins are shown in Table 1. Of note, the serum concentrations of total cholesterol (TC), triglycerides, LDL cholesterol (LDL-C), and apolipoprotein B (apo B) were all markedly decreased. The serum concentrations of total protein and globulin were both high. The results of serologic tests for hepatitis A, B, and C viruses and HIV were negative. View this table: Table 1. Selected patient laboratory results with corresponding reference intervals. ### QUESTIONS TO CONSIDER 1. What are the typical lipid abnormalities seen in persons with T2DM? 2. What …

Prognostic Utility of Serum Neopterin in Obstructive Jaundice Secondary to Malignant Lesions Treated by Percutaneous Transhepatic Biliary Drainage

PURPOSE To perform biochemical profiles before and after percutaneous transhepatic biliary drainage (PTBD) and investigate the potential utility of measuring C-reactive protein (CRP), circulating cytokines, and neopterin, a marker of cell-mediated immunity, to predict outcomes of patients with obstructive jaundice. MATERIALS AND METHODS In a prospective study, 47 patients with obstructive jaundice secondary to malignant lesions were evaluated before, at the fifth hour after, and on the fifth day after PTBD for neopterin, nitrate, tumor necrosis factor (TNF)-α, interleukin (IL)-6, IL-10, CRP levels, and liver function. RESULTS Neopterin levels on day 5 after PTBD were significantly higher than the levels before treatment and at the fifth hour. However, nitrate, cytokine, white blood cell, albumin, and creatinine levels were not significantly different. On the fifth day after PTBD, CRP levels were significantly higher and total bilirubin, direct bilirubin, alkaline phosphatase, aspartate transaminase, and alanine transaminase values were lower than the before-treatment values. Seven patients (15%) died within 30 days after drainage. On the fifth day after PTBD, neopterin, IL-6, IL-10, and creatinine levels were significantly higher and albumin levels were lower in the early mortality group. The performance characteristics of neopterin and creatinine were statistically significant in predicting mortality. CONCLUSIONS Neopterin levels increased after PTBD, indicating cellular immune activation. The nonsignificant change in cytokine levels may be related to low enduring release in malignancy. The extremely elevated levels of neopterin and creatinine after PTBD might serve as harbingers of early death in patients with cholestasis secondary to malignant lesions.

Effects of percutaneous transhepatic biliary drainage on renal function in patients with obstructive jaundice.

PURPOSE We assessed the effects of percutaneous transhepatic biliary drainage on renal function in patients with obstructive jaundice using the estimated glomerular filtration rate (eGFR) and evaluated the factors associated with renal dysfunction. MATERIALS AND METHODS Between July 2007 and September 2009, 108 consecutive patients (69 men 39 women; median age, 59 years; range, 29-87 years) with obstructive jaundice (20 benign, 88 malignant) that were unsuitable for endoscopic retrograde cholangiopancreticography were evaluated at admission and at follow-up exams five and thirty days after percutaneous transhepatic biliary drainage. Two patients with suspected contrast-induced nephropathy were excluded. Renal function was assessed by measuring levels of urea, creatinine and electrolytes and evaluating the modification of diet in the renal disease formula for eGFR. RESULTS eGFR was < 60 mL/min/1.73 m2 before percutaneous transhepatic biliary drainage in 27 patients (25%) and increased significantly 30 days after percutaneous transhepatic biliary drainage (P = 0.008). In the malignant external drainage subgroup, there was a significant increase in eGFR on the fifth day after percutaneous transhepatic biliary drainage (P = 0.038). The procedure-related mortality rate was zero. Nine malignant patients (8.49%) died within thirty days due to underlying diseases. On the fifth day, eGFR was significantly lower in these patients than in surviving patients (P = 0.049), and bilirubin levels were significantly higher before the intervention than in surviving patients (P = 0.04). Multiple logistic regression analysis showed that serum direct bilirubin is a significant predictor of renal function (P = 0.049). CONCLUSION Obstructive jaundice is associated with renal dysfunction, and serum direct bilirubin is a significant predictor of renal function. Percutaneous transhepatic biliary drainage improves renal function and is crucial for prognosis of obstructive jaundice.

The detection of left ventricular diastolic dysfunction in hypertensive patients: Performance of N-terminal probrain natriuretic peptide

Abstract Aim. Diastolic dysfunction (DD) results in increased cardiovascular risk in hypertensives. We studied the performance of N-terminal probrain natriuretic peptide (NT-proBNP) in detecting DD. Materials and methods. 241 hypertensive patients admitted to cardiology polyclinics were included in this study. They were grouped according to the presence of DD. Group 1: Essential hypertensive patients without DD (n= 119); group 2: essential hypertensive patients with DD (n= 122). All underwent trans-thoracic echocardiography for the evaluation of transvalvular flow, morphology, left ventricular wall motion abnormalities and ejection fraction. NT-proBNP levels were measured by an electrochemiluminescence immunoassay. Results. The systolic blood pressure (BP) (mean±SD) was 140±12 mmHg in group 1 and 144±16 mmHg in group 2 (p=0.049), the diastolic BP (mean±SD) was 88±10 mmHg in group 1 and 90±14 mmHg in group 2 (p=0.043). The median (1st–3rd quartile) NT-proBNP level in group 2 was significantly higher than group 1 [121.05 (61.03–207.66) and 31.17 (17.07–54.09) pg/ml, respectively (p<0.001)]. In the receiver operating characteristics analysis, the area under the curve was 0.862 (95% CI 0.816–0.908). At the cut-off of 45 pg/ml, sensitivity was 86.9%, specificity was 62.4%, and at the cut-off 65 pg/ml, sensitivity was 74.6%, specificity was 83.8%. Conclusion. Plasma NT-proBNP levels may be useful for identifying patients with DD and it is conceivable to use a cut-off level 65 pg/ml as a “rule in” test.

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Abstract Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%–30% enzyme activity) and profound deficiency (0%–10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G>A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617_619del/TTG (p.Val207del), p.A287T(c.859G>A), p.S491H(c.1471A>G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.

The relationship between lipoprotein-associated phospholipase A2 with cardiovascular risk factors in testosterone deficiency

Objective Lipoprotein-associated phospholipase A2 (Lp-PLA2) which is believed to play a role in atherosclerotic inflammatory process due to its function in hydrolysis of phospholipids and release of pro-inflammatory products, is considered as a novel biomarker for vascular risk. In this study we aimed to investigate the alterations in Lp-PLA2 and its relationship with other cardiovascular risk factors in patients with testosterone deficiency. Material and methods Forty hypogonadic male and 30 healthy male aged between 18-50 years were enrolled in this study. Height-weight, waist-to-hip circumference, body mass index (BMI) blood pressure, and body fat measurements were performed in all subjects. Blood glucose, albumin, total cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, high sensitive C-reactive protein (hs-CRP), apo-A1, apo-B, fibrinogen, insulin, total testosterone, sex hormone binding globulin (SHBG), small dense low-density lipoprotein (sd-LDL), paraoxonase 1, oxidized low-density lipoprotein (ox-LDL) and Lp-PLA 2 values were measured. Free and bioavailable testosterone levels were calculated. Data management was carried out with the statistical program SAS Version 9.2. Statistical evaluations were performed using Analysis of Variance (ANOVA), Kruskal-Wallis test, Wilcoxon test, correlation analysis and chi-square analysis. P values <0.05 were considered statistically significant. Results In patients with hypogonadism, significant increase in Lp-PLA2 levels were accompanied with risk factors of atherosclerosis, such as increase in total cholesterol, apo-B, sd-LDL, weight, BMI, body fat percentage, and decrease in paraoxonase 1 levels. Although the differences were not significant, similarly ox-LDL, hs-CRP, triglyceride, LDL-cholesterol levels were found to be higher in patients with hypogonadism compared to the control group. The mean level of Lp-PLA2 was the highest when compared with the group of secondary hypogonadism with the lowest testosterone level. Conlusion Our study has demonstrated that the testosterone deficiency increases cardiovascular risk via its effects on lipid metabolism and Lp-PLA2 can be used to assess this risk.