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1.
Transplant Proc ; 50(10): 3076-3081, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30577169

ABSTRACT

Living donor liver transplantation is a widely accepted option to treat liver diseases in several indications. Risk of liver donation is being discussed and quality of life of donors is also studied. Changes and the change pattern of quality of life were analyzed in this prospective longitudinal study. PATIENTS AND METHODS: Fifty-five donors were included. The Medical Outcomes Study Short Form 36 (SF-36) was fulfilled either in-person or during a telephone interview each donor preoperatively and at the end of the third, sixth, and 12th months. RESULTS: Physical subdomain scores of SF-36 decreased significantly in the third postoperative month compared to preoperative score. The scores recovered in the sixth postoperative month, except for the bodily pain domain. The pain score recovered at the end of the 12th month. While social functioning score among mental subdomains of SF-36 temporarily decreased and recovered at postoperative 12th month, other mental subdomain scores and mental composition summary scores did not show a significant change. CONCLUSION: The quality of life of living liver donors is not permanently affected by donation. There are well-defined changes in the physical aspects of the quality of life that all seem to recover within 1 year. Donors should be preoperatively informed about this temporary change as well as complications.


Subject(s)
Hepatectomy/adverse effects , Liver Transplantation/methods , Living Donors , Quality of Life , Adult , Female , Hepatectomy/methods , Humans , Longitudinal Studies , Male , Middle Aged , Postoperative Period , Prospective Studies , Young Adult
2.
J Agric Food Chem ; 65(28): 5713-5719, 2017 Jul 19.
Article in English | MEDLINE | ID: mdl-28651042

ABSTRACT

Fermentation and hydrothermal methods were tested to reduce the phytic acid (PA) content of oat bran, and the effects of these methods on the dietary fiber (DF) and total phenolic (TP) contents as well as the antioxidant activity (AA) were also investigated. Fermentation with 6% yeast and for 6 h resulted in 88.2% reduction in PA content, while it only resulted in 32.5% reduction in the sample incubated for 6 h without yeast addition. The PA loss in autoclaved oat bran sample (1.5 h, pH 4.0) was 95.2% while it was 41.8% at most in the sample autoclaved without pH adjustment. In both methods, soluble, insoluble, and total DF contents of samples were remarkably higher than the control samples. Also for TP in the oat bran samples, both processes led to 17% and 39% increases, respectively, while AA values were 8% and 15%, respectively. Among all samples, the autoclaving process resulted in the lowest PA and the greatest amount of bioactive compounds.


Subject(s)
Antioxidants/chemistry , Avena/chemistry , Dietary Fiber/metabolism , Phenols/chemistry , Saccharomyces cerevisiae/metabolism , Antioxidants/metabolism , Avena/metabolism , Avena/microbiology , Dietary Fiber/analysis , Dietary Fiber/microbiology , Fermentation , Hot Temperature , Oxidation-Reduction , Phenols/metabolism , Phytic Acid/chemistry , Phytic Acid/metabolism
3.
Ultrasound Obstet Gynecol ; 48(6): 695-700, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27300158

ABSTRACT

OBJECTIVE: To evaluate whether routine vaginal examination during labor is associated with increased levels of anxiety and pain compared with transperineal ultrasound assessment. METHODS: This was a single-blinded, parallel, randomized controlled trial conducted in a tertiary care facility. Parous pregnant women without a known psychiatric condition who were seen at the care facility between November 2015 and March 2016 were included in the trial. Participants had an uneventful pregnancy and were assigned randomly to routine digital vaginal examination or transperineal ultrasound assessment during labor. Psychological distress levels, measured by the Symptom Checklist-90-Revised, and anxiety levels, measured by State-Trait Anxiety Inventory (STAI), were recorded before admission, and pain, measured using a visual analog scale, and anxiety were recorded during the latent phase of labor, the beginning of active labor and the postpartum period. A sample size of 45 women per group (n = 90) was planned to compare methods of assessment. RESULTS: Ninety women were randomized (1:1 allocation) to one or other of the interventions. Preadmission psychological distress and anxiety levels were similar between the two groups (P = 0.93 and 0.65, respectively). Most of the studied characteristics were similar in each group including duration of labor, number of examinations, analgesic administration during labor, episiotomy rate and interval between deliveries. Visual analog scale scores revealed that pain perception was reduced during latent (mean difference, -1.5 (95% CI, -2.51 to -0.57); P < 0.01) and active (mean difference, -1.2 (95% CI, -2.45 to -0.09); P = 0.03) stages of labor and during the postpartum period (mean difference, -0.5 (95% CI, -1.02 to -0.06); P = 0.02) in participants who had a transperineal ultrasound assessment compared with participants who had a digital vaginal examination. STAI scores revealed that anxiety levels were similar between the two groups during the latent and active phases of labor and during the postpartum period (P = 0.07, P = 0.38 and P = 0.13, respectively). CONCLUSIONS: The perception of pain was significantly reduced with the use of a transperineal ultrasound assessment compared with routine digital vaginal examination. However, only during the latent stage of labor was the magnitude of the observed effect sufficiently great to be considered clinically significant. Our results indicate that transperineal ultrasound assessment could be preferred to digital examination for the evaluation of progression of labor during this phase. Digital examination has no clinically relevant effects on state anxiety levels, as measured by the STAI. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Anxiety/etiology , Gynecological Examination/psychology , Pain/etiology , Ultrasonography/psychology , Adult , Delivery, Obstetric , Female , Gynecological Examination/methods , Humans , Labor Presentation , Pain Measurement , Pregnancy , Ultrasonography/methods
4.
Eur Rev Med Pharmacol Sci ; 19(21): 4095-100, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26592833

ABSTRACT

OBJECTIVE: Kaposi sarcoma is an angioproliferative disease. Kaposi sarcoma is clinicopathologically classified into four subgroups based on epidemiological data. For its systemic treatment, in addition to some chemotherapeutics, taxanes have also been used during the recent years for their anti-angiogenic properties. In this study, we aimed to compare paclitaxel and non-paclitaxel chemotherapeutic regimens in terms of efficacy and side effects. PATIENTS AND METHODS: In our center, demographical, clinical and histopathological characteristics of a total of 13 patients diagnosed with Kaposi sarcoma who received therapy were retrospectively recorded based on their medical files RESULTS: Among these subjects, 7 have been treated with paclitaxel and 6 with non-paclitaxel therapies. Eleven patients were male. Twelve patients were found to have classical type of Kaposi Sarcoma. The recurrence was observed in 2 patients treated with paclitaxel and in 1 patient treated with non-paclitaxel therapy. No statistically significant difference was found between the therapeutic modality, the stage of the disease and the percentage of the recurrence. Neuropathy developed in 3 patients treated with paclitaxel, whereas there was no neuropathy in the other group. Although the recurrence-free survival was worse in the patients treated with paclitaxel, there was no statistically significant difference. CONCLUSIONS: Cytotoxic chemotherapy is effective in treating patients with Kaposi Sarcoma, although it is palliative. Taxanes have demonstrated effectiveness against AIDS-associated Kaposi Sarcoma. The experience suggests that paclitaxel is an effective alternative in the treatment of classical form Kaposi's sarcoma. There was no difference in efficacy between paclitaxel and non-paclitaxel therapies whereas difference in occurrence of neuropathy which is one of the side effects, showed borderline statistical significance.


Subject(s)
Antineoplastic Agents, Phytogenic/therapeutic use , Neoplasm Recurrence, Local/diagnosis , Paclitaxel/therapeutic use , Sarcoma, Kaposi/diagnosis , Sarcoma, Kaposi/drug therapy , Adult , Aged , Female , Follow-Up Studies , Humans , Male , Middle Aged , Paclitaxel/administration & dosage , Retrospective Studies , Treatment Outcome
5.
J BUON ; 18(2): 442-7, 2013.
Article in English | MEDLINE | ID: mdl-23818359

ABSTRACT

PURPOSE: Multiple myeloma (MM) patients relapse after a period of time despite longer disease-free survival due to novel treatment options. In this study we aimed to assess the value of real-time polymerase chain reaction (RT-PCR) for detecting the immunoglobulin heavy chain (IgH) gene rearrangement using allele-specific molecular beacons as fluorescence probes to quantify minimal residual disease (MRD) and also to correlate post-treatment flow cytometric detection of plasma cells' (PCs) expression of CD19, CD38, CD45, CD56 and CD138 in MM. METHODS: After diagnosis of 17 MM patients, the CDR1, CDR2 and CDR3 regions of the IgH gene were analysed and sequenced to identify IgH's clonal nature. Unique sequences of the clonal IgH rearrangement were used to design specific molecular beacon probes for each MM patient. Examined were also the co-expression of CD19, CD38, CD45, CD56, and CD138 molecules in bone marrow aspirates of patients with MM by flow cytometry. RESULTS: Detection of MRD was positive in 13 (76%) of 17 patients by RT-PCR. The infiltration ratio was significantly correlated with CD138 expression (p=0.009). Significant correlation was also found between RT-PCR detection of MRD and CD138 expression (p=0.006). Nevertheless, no correlation was observed among other surface antigens (CD38, CD45, CD56). CONCLUSION: Our results indicated that RT-PCR with specific molecular beacons provide a feasible, accurate and reproducible method for the determination of MRD in MM. Flow cytometry detection of CD138 expression may be used as a disease marker in addition to RT-PCR.


Subject(s)
Flow Cytometry , Fluorescent Dyes , Gene Rearrangement , Genes, Immunoglobulin Heavy Chain , Molecular Imaging/methods , Multiple Myeloma/diagnosis , Multiple Myeloma/therapy , Real-Time Polymerase Chain Reaction , ADP-ribosyl Cyclase 1/analysis , Antigens, CD19/analysis , Biomarkers, Tumor/analysis , Bone Marrow/immunology , Bone Marrow Examination , CD56 Antigen/analysis , Chi-Square Distribution , Humans , Leukocyte Common Antigens/analysis , Membrane Glycoproteins/analysis , Multiple Myeloma/genetics , Multiple Myeloma/immunology , Neoplasm, Residual , Plasma Cells/immunology , Predictive Value of Tests , Recurrence , Syndecan-1/analysis , Time Factors , Treatment Outcome
6.
J BUON ; 18(1): 44-50, 2013.
Article in English | MEDLINE | ID: mdl-23613387

ABSTRACT

PURPOSE: Mutations that activate the PIK3CA oncogene and inhibit the tumor suppressor gene PTEN action are commonly found in breast tumors. Akt is a key activator of cell survival. p53 is frequently found mutated in human tumors, and mutant p53 protein actively contributes to tumorigenesis. In selected cases of breast cancer, trastuzumab (TZMB) is incorporated in the primary treatment in the adjuvant and metastatic settings. Many studies have reported that selected patients are resistant to TZMB due to the presence of p95 HER2 fragments. To address this, we analysed PTEN, Akt, MAPK, p53 and p95 expression in breast cancer patients treated with TZMB. METHODS: Out of 90 patients histologically diagnosed with breast cancer between 2004 and 2011, analysed were 25 patients with HER2 positive, and estrogen (ER) and progesterone receptors (PR) negative, metastatic or locally advanced disease. All 25 patients were treated with TZMB and resistance to TZMB was assessed. All patients were on anthracycline-and taxane-containing regimens. Tissue samples were obtained from paraffin blocks and evaluated immunohistochemically for PTEN, Akt, MAPK, p53, and p95 expression. RESULTS: TZMB resistance was detected in 5 (20%) patients. Akt expression was positive in 2 patients (8%) and MAPK, p95, and p53 expression was positive in 1 patient (4%); PTEN expression was negative in 3 patients (12%). No significant differences were found between TZMB resistance and PTEN, Akt, MAPK, p53, and p95 expression. Subgroup analysis was carried out in the neoadjuvant treatment group. Complete pathologic response was detected in 3 patients (21.4%). Statistically significant differences were not found between the complete response rate and PTEN, Akt, MAPK, and p95 expression. There was a statistically significant correlation between p53 expression and complete pathologic response (p=0.02). CONCLUSION: No statistically significant correlation between TZMB resistance and the expression of these biomarkers was noted. In patients with HER2-positive breast cancer that were treated with 4 dose-dense sequential cycles of doxorubicin and cyclophosphamide, followed by TZMB and paclitaxel combination therapy in the neodjuvant setting, p53 expression could predict complete response to chemotherapy.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biomarkers, Tumor/analysis , Breast Neoplasms/drug therapy , Breast Neoplasms/enzymology , Drug Resistance, Neoplasm , Mitogen-Activated Protein Kinase Kinases/analysis , PTEN Phosphohydrolase/analysis , Proto-Oncogene Proteins c-akt/analysis , Receptor, ErbB-2/antagonists & inhibitors , Tumor Suppressor Protein p53/analysis , Adult , Aged , Antibodies, Monoclonal, Humanized/administration & dosage , Breast Neoplasms/mortality , Breast Neoplasms/pathology , Chemotherapy, Adjuvant , Chi-Square Distribution , Cyclophosphamide/administration & dosage , Doxorubicin/administration & dosage , Female , Humans , Immunohistochemistry , Kaplan-Meier Estimate , Middle Aged , Neoadjuvant Therapy , Paclitaxel/administration & dosage , Protein Kinase Inhibitors/administration & dosage , Receptor, ErbB-2/analysis , Risk Factors , Time Factors , Trastuzumab , Treatment Outcome
7.
J BUON ; 17(3): 565-9, 2012.
Article in English | MEDLINE | ID: mdl-23033300

ABSTRACT

PURPOSE: To evaluate an educational and exercise program for the prevention and progression of post-mastectomy lymphedema of the arm and shoulder. METHODS: Fifty-five patients who had undergone mastectomy and axillary lymph node dissection between June 2009 and January 2010 were included in this study. The patients were informed by a trainer nurse about the precautions they should take to prevent the development of lymphedema. The patients were also trained for the appropriate exercises and were given written educational material prepared by the investigators. RESULTS: Among the participants, 96.4% underwent modified radical mastectomy (MRM) and 3.6% breast-conserving (BCS) surgery. The mean postoperative follow-up period was 9.87 ± 17.55 months. The degree of lymphedema was found lower, even within 6 months, in the patients that exercised as compared to the patients that did not (p<0.05). CONCLUSIONS: The results indicate that the risk of development and progression of mastectomy-related lymphedema was reduced with education and exercise provided by trained nurses at an early stage.


Subject(s)
Breast Neoplasms/surgery , Exercise , Lymphedema/prevention & control , Mastectomy/adverse effects , Nurses , Patient Education as Topic , Female , Humans , Lymph Node Excision , Lymphedema/epidemiology , Male , Morbidity , Prevalence
8.
Genet Mol Res ; 11(3): 3122-32, 2012 Aug 31.
Article in English | MEDLINE | ID: mdl-23007990

ABSTRACT

11ß-hydroxysteroid dehydrogenase type 1 (11ß-HSD-1) activity and mRNA levels are increased in visceral and subcutaneous adipose tissues of metabolic syndrome subjects. We analyzed 11ß-HSD-1 expression in human epicardial adipose (EA) and ascending aorta (AA) tissues of metabolic syndrome patients and examined their contribution to the development of coronary atherosclerosis. The 11ß-HSD-1 expression was evaluated by qRT-PCR in EA and AA tissues of 20 metabolic syndrome patients with coronary artery disease (metabolic syndrome group) and 10 non-metabolic syndrome patients without coronary artery disease (controls). 11ß-HSD-1 expression was increased in EA and AA tissues of the metabolic syndrome group (4.1- and 5.5-fold, respectively). A significant positive correlation was found between 11ß-HSD-1 expression in EA tissue and waist hip ratio and 11ß-HSD-1 expression in AA tissue and body mass index, while a negative correlation was found between 11ß-HSD-1 expression in EA tissue and HDL. Expression of CD68, a macrophage marker, was significantly increased in both tissues of the metabolic syndrome group; it was 2-fold higher in AA tissue compared to EA tissue in the metabolic syndrome group. Our findings of increased expression of 11ß-HSD-1 and CD68 in AA tissue of the metabolic syndrome group lead us to suggest that they contribute to coronary atherosclerosis in metabolic syndrome. This positive correlation between obesity markers and 11ß-HSD-1 in AA and EA tissues strengthens the evidence that 11ß-HSD-1 has a role in metabolic syndrome. To the best of our knowledge, this is the first report showing 11ß-HSD-1 and CD68 expression in AA tissue of metabolic syndrome patients. We suggest that there is tissue-specific expression of 11ß-HSD-1 in metabolic syndrome and associated cardiovascular disorders.


Subject(s)
11-beta-Hydroxysteroid Dehydrogenase Type 1/genetics , Aorta/enzymology , Aorta/pathology , Coronary Artery Disease/enzymology , Coronary Artery Disease/genetics , Gene Expression Regulation, Enzymologic , Metabolic Syndrome/enzymology , 11-beta-Hydroxysteroid Dehydrogenase Type 1/metabolism , Anthropometry , Case-Control Studies , Coronary Artery Disease/complications , Female , Humans , Male , Metabolic Syndrome/complications , Metabolic Syndrome/genetics , Middle Aged , Pericardium/enzymology , Pericardium/pathology
9.
J BUON ; 16(4): 759-64, 2011.
Article in English | MEDLINE | ID: mdl-22331734

ABSTRACT

PURPOSE: Sorafenib has been found to have significant clinical activity against hepatocellular carcinoma (HCC). Hand-foot skin syndrome (HFS) has been described with the usage of sorafenib. It is a dose-limiting toxicity and may lead to compromised efficacy because of dose reduction. METHODS: From 14 patients diagnosed with HCC 10 who developed HFS while on treatment with sorafenib were included in this study. Sorafenib was administered orally at a dose of 400 mg twice daily vitamin E usage can be effective in HFS due to sorafenib, therefore vitamin E 300 mg/day was started when HFS occurred. HFS was graded according to the National Cancer Institute (NCI) criteria. RESULTS: Grade 2-3 HFS was found in 10 of 14 patients. Vitamin E was started to all patients without using topical agents. Mean time to the appearance of HFS was 15 ± 3 days (range 10-22) after starting sorafenib. Grade was 3 in 4 patients, 2 in 4 patients and 1 in 2 patients. Vitamin E administration had a marked effect after 10-12 days of its initiation. Skin lesions disappeared without any dose modification. CONCLUSION: Sorafenib is the gold standard for HCC treatment. Dose modification due to HFS decreases the effectiveness of this agent. Adding vitamin E to sorafenib is effective in HFS without dose reduction or treatment interruption. This is the first clinical study to report resolution of HFS with vitamin E due to sorafenib therapy.


Subject(s)
Antineoplastic Agents/adverse effects , Benzenesulfonates/adverse effects , Carcinoma, Hepatocellular/drug therapy , Hand-Foot Syndrome/drug therapy , Hand-Foot Syndrome/etiology , Liver Neoplasms/drug therapy , Pyridines/adverse effects , Vitamin E/therapeutic use , Adult , Aged , Female , Humans , Male , Middle Aged , Niacinamide/analogs & derivatives , Phenylurea Compounds , Sorafenib
10.
Lipids Health Dis ; 7: 5, 2008 Feb 25.
Article in English | MEDLINE | ID: mdl-18298848

ABSTRACT

BACKGROUND: Nitric oxide (NO) is an endothelium derived relaxing factor (EDRF) which has an important role for regulating the heart-vessel physiology. The objective of this study was to evaluate the effects of the eNOS T-786C polymorphism on lipid parameters and the development of acute coronary syndrome (ACS) and coronary heart disease (CHD) for the first time in a Turkish study group. We have analyzed the genotype frequencies of the T-786C polymorphism of the eNOS gene in 10 ACS patients (5 men, 5 women), 20 CHD patients (14 men, 6 women), and 31 controls (10 men, 21 women), who were angiographically proven to have normal coronaries. RESULTS: The demographic, biochemical and left ventricule systolic dysfunction data of the ACS, CHD patients and controls were analyzed as a function of eNOS T-786C genotypes. The eNOS gene T-786C polymorphism frequencies for T/T, C/T and C/C genotypes were respectively 10%, 40%, 50% in subjects with ACS; 75%, 20%, 5% in subjects with CHD and 67.7%, 25.8%, 6.5% in the control group. Significant difference was observed in genotype frequencies between the study groups for T-786C polymorphism (p = 0.001). The CC genotype frequency was found to be the most prevalent in ACS group in comparison to CHD and control groups (p = 0.001). TT was the most frequently observed genotype in both CHD patients and controls (p = 0.001). Left ventricule systolic dysfunction frequency was found to be highest in C/T genotype carriers (66.7%) in patients (ACS+CHD). None of the patients with LVSD were carrying the normal genotype (T/T). The eNOS T-786C polymorphism was not found to be effective over any analyzed lipid variable in patients (ACS+CHD). The HDL-cholesterol levels were found to be lower in CHD group were compared to controls (p < 0.01), whereas glucose and leucocyte levels of the ACS and CHD groups were both higher than controls (p < 0.001). CONCLUSION: The significantly high frequency of eNOS -786C/C genotype in ACS patients than in those of controls, indicate the genotype association with ACS. The finding of significantly high frequency of T/T genotype in the CHD group, may support the relationship of CC genotype with ACS without CHD. The high frequency of the mutant (C/C) and heterozygous (C/T) genotypes found may be linked to left ventricule remodeling after MI.


Subject(s)
Acute Coronary Syndrome/genetics , Coronary Disease/genetics , Nitric Oxide Synthase Type III/genetics , Polymorphism, Genetic/genetics , Promoter Regions, Genetic/genetics , Acute Coronary Syndrome/diagnosis , Coronary Disease/diagnosis , DNA/blood , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Male , Turkey
11.
Diabetes Nutr Metab ; 17(5): 267-74, 2004 Oct.
Article in English | MEDLINE | ID: mdl-16295048

ABSTRACT

The role of apolipoprotein E (apoE) genotypes in modulating plasma lipid and apolipoprotein levels was studied in 112 patients with Type 2 diabetes mellitus (T2DM) and 94 healthy individuals. ApoE genotypes were identified by PCR amplification and subsequent restriction endonuclease digestion. The apoE allele and genotype frequencies were similar in both the diabetic and control subjects. The apoE allele frequencies were found to be 74.3 for e3, 10.1 for e2, 15.6 for e4 in the diabetic group, and 68.1 for e3, 13.2 for e2 and 18.7 for e4 in the control group. Sex-specific genotypic distribution of apoE polymorphism did not differ between the study groups. To elucidate the association of apoE with lipid abnormalities with respect to gender, serum lipid and apolipoprotein levels were compared among apo e2 (e2/2 and e3/2), e3 (e3/3) and e4 (e4/3 and e4/4) groups of T2DM and control subjects. Apo e2 allele was found to be associated to triglycerides for both sexes, and associated to glucose, and BMI only in females. Subjects with e2 allele had higher levels of BMI, glucose and triglyceride in comparison to e3 and e4. Our data suggest that genetic variation at the apoE locus in Turkish subjects is a genetic factor that influences lipid levels. Further studies attempting to correlate apoE polymorphism with lipid profile in a large number of individuals would be helpful in establishing the true significance of this polymorphism in the Turkish population.


Subject(s)
Apolipoproteins E/genetics , Diabetes Mellitus, Type 2/genetics , Gene Frequency , Lipids/blood , Polymorphism, Genetic , Analysis of Variance , Apolipoproteins/blood , Apolipoproteins E/blood , Blood Glucose/analysis , Body Mass Index , Case-Control Studies , DNA/chemistry , Diabetes Mellitus, Type 2/blood , Female , Genotype , Humans , Male , Middle Aged , Polymerase Chain Reaction , Restriction Mapping , Sex Distribution , Triglycerides/blood , Turkey
12.
Diabetes Nutr Metab ; 16(4): 243-50, 2003 Aug.
Article in English | MEDLINE | ID: mdl-14768774

ABSTRACT

This paper investigates the relative role of the impairment of insulin secretion and action in the pathogenesis of Type 2 diabetes mellitus (T2DM). The parameters indicating insulin secretion and action were calculated from the data obtained during oral glucose tolerance test (OGTT), in 156 age- and sex-matched T2DM patients divided in 4 groups according to their body mass index (BMI, I = 20.0-24.9, II = 25.0-29.9, III = 30.0-39.9 and IV > 40.0 kg/m2). After obtaining baseline biomedical parameters (plasma glucose, serum insulin, cholesterol, HDL-cholesterol, triglycerides, BMI, and amount of fat tissue), the rates of insulin secretory capacity and insulin action were obtained from OGTT and compared between the T2DM patients with normal body weight and different grades of obesity. Beta-cell secretory capacity of the participants was found to be proportionally and significantly higher in graded obese than that of the normal body weight patients. The rates of hepatic as well as peripheral insulin resistance in obese groups proportionally and significantly rise in comparison with that of non-obese diabetics. In addition, these parameters are shown to be related to the body fat, presumably visceral in origin. In conclusion, hyperglycemia-hyperinsulinemia observed in obese and T2DM patients might be due, in part, to increased capacity of insulin secretion, and to exaggerated hepatic glucose production because of hepatic insulin resistance, respectively.


Subject(s)
Diabetes Mellitus, Type 2/physiopathology , Diabetes Mellitus/physiopathology , Insulin/metabolism , Insulin/pharmacology , Obesity , Abdomen , Adipose Tissue , Adult , Blood Glucose/analysis , Body Composition , Body Constitution , Body Mass Index , Body Weight , Cholesterol/blood , Cholesterol, HDL/blood , Glucose/biosynthesis , Glucose Tolerance Test , Humans , Insulin/blood , Insulin Resistance , Insulin Secretion , Islets of Langerhans/metabolism , Liver/drug effects , Liver/metabolism , Middle Aged , Triglycerides/blood
13.
Hum Mutat ; 16(5): 431-6, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11058901

ABSTRACT

We report the development of a method for diagnosis of heterozygous deletions or duplications based on measurement of gene copy number. The method involves amplifications of a test locus with unknown copy number and a reference locus with known copy number using real-time PCR. Progress of the PCR reactions is monitored using fluorigenic probes and a real-time fluorescence detection system. For each reaction, the number of cycles is measured at which a defined threshold fluorescence emission is reached. Using standard curves, the copy number of the test DNA relative to a common standard DNA is determined for each locus. From the ratio of the relative copy numbers, the genomic copy number of the test locus is determined. In order to demonstrate the accuracy and reliability of the method for genetic testing, we analyzed 43 patients with hereditary neuropathy with liability to pressure palsies (HNPP), containing a heterozygous deletion of a 1.5 Mb region on chromosome 17p11.2-p12, eight patients with Charcot-Marie-Tooth disease, containing a heterozygous duplication of the same genomic region, and 50 normal control individuals. As a test locus we analyzed the PMP22 gene located within the 1.5 Mb region. The genomic copy number of the test locus was precisely measured, and the presence or absence of the genomic deletion or duplication was unambiguously diagnosed in all individuals.


Subject(s)
Gene Dosage , Haploidy , Polymerase Chain Reaction , Polyploidy , Charcot-Marie-Tooth Disease/diagnosis , Charcot-Marie-Tooth Disease/genetics , Computer Systems , Female , Gene Duplication , Hereditary Sensory and Motor Neuropathy/diagnosis , Hereditary Sensory and Motor Neuropathy/genetics , Heterozygote , Humans , Male , Myelin Proteins/genetics , Polymerase Chain Reaction/instrumentation , Polymerase Chain Reaction/methods , Sequence Deletion/genetics
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