Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.

Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal recessive diseases. The aim of this study was to evaluate the diagnostic power of WES in patients with autosomal recessive inheritance and to determine the relationship between genotype and phenotype. Retrospective screenings of 24 patients analysed with WES were performed and clinical and genetic data were evaluated. Any pathogenic mutation that could explain the suspected disease in 4 patients was not identified. A homozygous pathogenic mutation was detected in 18 patients. 2 patients had heterozygous mutations. According to this study results, WES is a successful technique to be used at the stage of diagnosis in patients who are accompanied by various degrees of intellectual disability matching the inheritance of the autosomal recessive.

Lack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study group.

The etiology underlying neural tube defects (NTDs) is not fully understood and is believed to involve a complex milieu of genetic and environmental factors. The A1298C polymorphism in the methylenetetrahydropholate reductase gene (MTHFR) has been associated with mild risk for NTDs. In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocysteine, vitamin B12, and folate were evaluated in 33 children with NTDs, their mothers, and 46 healthy controls. Genotyping of the A1298C polymorphism was performed by real-time polymerase chain reaction. The A and C allele frequencies in children with NTDs and their mothers were similar to controls (P = 0.160). The 1298AA and 1298CC genotype frequencies (P = 0.551 and 0.062, respectively) in children with NTDs and their mothers did not differ from controls. On the other hand, the 1298AC genotype frequencies in children with NTDs and their mothers were significantly different from controls (P = 0.025). The genotype frequency of 1298AC was lower in children with NTDs than in controls. There was no significant association between clinical distribution of NTDs and 1298AA/AC/CC genotypes (P > 0.05). Serum vitamin B12 levels were higher in children with NTDs than their mothers and controls (P = 0.001). There were no differences among serum homocysteine and folate levels in all groups (P = 0.494 and 0.141, respectively). Both genetic and nutritional factors are important in the etiology of NTDs. Thus, the A1298C polymorphism cannot be regarded as a major risk factor for NTDs.

Nasotracheal intubation of a patient with restricted mouth opening using a McGrath MAC X-Blade and Magill forceps.

We experienced a case of successful nasotracheal intubation using the X-Blade of the McGrath MAC in a 28-year-old woman with a 2.5-cm mouth opening. She had no teeth on the right side, her neck movement was limited, her mandibular protrusion was grade C, and her Mallampati could not be evaluated. Her tongue was fixed to the left wall during a previous surgery. We evaluated the awake glottic view using the McGrath MAC X-Blade and topical oral anesthesia. We obtained a Cormack-Lehane grade II view and then decided to administer general anesthesia. Intubation was attempted with a Macintosh laryngoscope, but we could not insert the scope deeply enough and there was no area in which to insert the Magill forceps or endotracheal tube. We then used the X-Blade 3 of the McGrath MAC and obtained a sufficient area in which to insert the tube and manipulate the Magill forceps. A laryngoscopic view was achieved in 7 s and nasotracheal intubation was performed in 16 s with a 7.0-mm spiral tube using the Magill forceps. McGrath MAC X-Blade can be used with the Magill forceps in patients with restricted mouth opening with careful patient selection, in experienced hands.

Impact of the obesity on lymph node status in operable breast cancer patients.

PURPOSE: Although many studies have shown association of obesity and tumor size, the association with the lymph node status is not clear. We examined the relationship of the lymph node status and obesity and other possible factors in early breast cancer patients. METHODS: In this retrospective cohort study, 1295 breast cancer patients who had axillary dissection were included. Patients were grouped according to their body mass index (BMI) values at the time of diagnosis. We analyzed the relationship between BMI and patient and tumor characteristics, especially lymph node status. RESULTS: The median patient age was 48 years (range 20- 84). Of the patients 69.6% had modified radical mastectomy and the remaining 30.4% had breast-conserving surgery and axillary dissection. Median BMI of the patients was 27.2 kg/m(2) and 33.1% (N-429) of them had normal BMI, 36% (N-471) were overweight and 30.5% (N=395) were obese at the time of the diagnosis. Of the patients, 44.2% had N0 disease, and 55.8% had lymph node metastasis. N1 disease had 28.3% (N=367), 13.8% (N=179) had N2 and 13.7% (N=177) had N3 disease. When patients were classified as normal (≤24.9 kg/m(2)) and obese (>24.9 kg/m(2)) group, the total number of lymph nodes removed was higher in the obese group and this difference was statistically significant (18.12±10.48 and 20.36±11.37, respectively, p= 0.001). There was strong correlation between the number of the dissected lymph nodes and BMI (r=0.11; p<0.001). However, there was no statistically significant correlation between the number of metastatic lymph nodes and BMI. The mean number of the dissected and involved lymph nodes was higher in the HER2 positive group compared to the negative ones (21 vs 19, p=0.008; 6 vs 3, p<0.001; respectively) CONCLUSION: The number of the dissected lymph nodes was slightly higher in obese patients but there was no correlation between metastatic lymph node number and BMI. The number of the dissected and involved lymph nodes was higher in the HER2 positive group.

The prognostic impact of obesity on molecular subtypes of breast cancer in premenopausal women.

PURPOSE: The increasing incidence of obesity throughout the world will result in expansion of the number of women at risk for developing breast cancer. Obesity is associated with adverse outcomes in postmenopausal women with breast cancer. In premenopausal women, the association is less clear. We investigated the impact of obesity on tumor features, hormonal status, recurrence and mortality in premenopausal breast cancer patients, classified according to molecular subtypes. METHODS: 818 premenopausal women with nonmetastatic breast cancer were analysed. Patients were classified into 3 groups according to body mass index (BMI): i) normal body weight (BMI: 18.5-24.9 kg/m(2)); ii) overweight (BMI: 25-29.9 kg/ m(2)); and iii) obese (BMI:>30 kg/ m(2)). Clinocopathologic characteristics and survival rates were analyzed for triple negative, HER-2 overexpressing and luminal subtypes. RESULTS: Obese patients compared with normal-weight women were older at diagnosis (p<0.001) and more often had high grade tumor (57.1 vs 42.3%; p=0.04) with lymphovascular invasion (79.5 vs 63.9%; p=0.03). The median follow-up period after diagnosis was 29 months. According to the molecular subtypes, overall survival (OS) and disease free survival (DFS) were significantly shorter in obese patients with triple negative breast cancer (TNBC) (p=0.001 and p=0.006, respectively). Obesity (HR 1.4; 95% CI 1.0-2.1; p=0.04) and lymphovascular invasion (HR 2.1; 95% CI 1.3- 3.3; p=0.02) were found to be independent prognostic factors for TNBC mortality. CONCLUSION: Obesity is associated with estrogen (ER) and progesterone receptor (PR) negative tumors and poor OS in premenopausal women with breast cancer.

Comparison of ProSeal LMA with Supreme LMA in paediatric patients.

BACKGROUND AND OBJECTIVE: Supreme laryngeal mask airway (S-LMA) has been improved in recent years, but comparative studies with a sizeable number of paediatric patients are limited in number. In this study, oropharyngeal leak pressures (OLPs) were compared between S-LMA and ProSeal laryngeal mask airway (P-LMA) in paediatric patients. METHODS: After obtaining approval from the ethics committee and written informed consent from the relatives of the patients, 60 patients, from 9 months to 5 years of age and 10-20 kg in weight, who were recommended for elective surgery were included in this prospective and randomised study. The patients were assigned to the S-LMA and P-LMA groups. OLP, insertion times, success rates, ease of airway device placement, fibre optical assessment, success rates and insertion times of an orogastric tube (OGT) were compared. RESULTS: P-LMA was placed successfully in all the patients. One patient was intubated in the S-LMA group. The outcomes of a total of 59 patients were analysed. The insertion times of the airway devices were shorter in the S-LMA group than in the P-LMA group (S-LMA; 12.2 ± 2.9, P-LMA; 15.4 ± 3.7 s) (P = 0.001). The first insertion attempts of airway device placement were similar. The OLPs were similar (P-LMA; 17.2 ± 2.3, S-LMA; 16.4 ± 1.7 cm H2 O). The fibre-optically determined anatomic position was better in the P-LMA group (P = 0.02). The insertion time of the OGT was shorter with S-LMA than with P-LMA (P = 0.01). CONCLUSION: Our findings suggest that S-LMA has OLPs similar to those of P-LMA in paediatric patients and that S-LMA provides successful positive pressure ventilation.

Association between family history and clinicopathologic characteristics in 1987 breast cancer patients: single institution experience from Turkey.

PURPOSE: To evaluate the clinicopathologic characteristics and survival of patients with family history of breast/ ovarian cancer (FHBOC). METHODS: In this study with 1987 breast cancer patients, we analyzed their tumor characteristics and outcomes, as well as the total number, degree and age of affected relatives, and their type of cancer. Results were assessed using Pearson chi-square test, Kaplan-Meier method and Cox regression analysis. RESULTS: 24.1% (n=479) of the patients had FHBOC. Patients with FHBOC were younger (47.7 vs. 49.1 years; p=0.03) and tended to have node-negative breast cancer (45.4 vs. 39.8%; p=0.006). The median overall survival (OS) was shorter in patients with FHBOC with a borderline p-value (p=0.063), compared to patients with no family history. The median OS was shorter in patients who had ≥ 2 relatives with breast cancer (p=0.014), in those having first degree relatives with breast cancer, presenting with metastatic disease (p= 0.020). FHBOC patients with triple negative breast cancer had the highest risk of death (p<0.0001) and recurrence (p<0.0001). Patients who had at least one relative with breast cancer aged ≤ 50 years were also at increased risk of recurrence (p7equals;0.006). CONCLUSION: Our results suggest that patients with FH7horbar;BOC are younger, tend to have small tumor size, node-negative disease and their survival is shorter compared to patients without family history. This is the first study evaluating the clinicopathologic differences of patients with and without FHBOC in Turkish population.

Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

We investigated a possible association between aggrecan gene polymorphism and lumbar degenerative disc disease in Turkish patients. One hundred 20-30-year-old patients with or without low back pain were selected for the study. Lumbar magnetic resonance imaging was performed on all patients. The patient group had low back pain clinically and degenerative disc disease radiographically. The control group included patients with and without low back pain: all were negative radiographically for degenerative disc disease. Genomic DNA was extracted from all participants. A PCR assay were used to evaluate variable number of tandem repeat polymorphism of aggrecan gene alleles to determine if there was any correlation with degenerative disc disease. Significant associations were found between short repeated alleles of the aggrecan gene and severe disc degeneration. A significant association was also found between short repeated alleles of the aggrecan gene and multilevel disc herniation as well as extrusion and sequestration types of disc herniation. In Turkish population, short repeated alleles of the aggrecan gene are associated with increased disc degeneration and disc herniation.

Ondansetron does not modify emergence agitation in children.

In this prospective, placebo-controlled study, we evaluated the effect of prophylactic ondansetron therapy on emergence agitation of children who underwent minor surgery below the umbilicus. Seventy children aged one to six years and American Society of Anesthesiologists physical status I were studied. Children were premedicated with midazolam rectally and were randomly assigned to receive either ondansetron (Group O) or placebo (Group P) in combination with caudal anaesthesia. Children in Group O received intravenous ondansetron (0.1 mg/kg for children weighing < 40 kg, 4 mg for children weighing > 40 kg) and Group P (n = 35) received normal saline 2 ml following anaesthesia induction with sevoflurane. Airway management was provided with LMA-Proseal without muscle relaxation and anaesthesia maintenance was provided with a 60:40 N2O:O2 mixture and sevoflurane. Emergence agitation was evaluated with a ten point scale and pain level was assessed every 10 minutes for the first 30 minutes after admission to the recovery room. There were no significant differences between the placebo and ondansetron groups with respect to demographic, anaesthetic and surgical details. Incidences of emergence agitation in ondansetron and placebo groups were similar (32.4% and 30.3% at 10 minutes respectively). Mean modified Children's Hospital of Eastern Ontario pain scale scores and mean ten-point scale scores and emergence agitation incidences decreased similarly after 10 minutes in both groups. Ready time for discharge was similar between the groups. Agitated patients had significantly increased ready time for discharge compared to non-agitated patients (P = 0.001). Prophylactic intravenous ondansetron administration does not reduce emergence agitation comparing to placebo after sevoflurane anaesthesia.

Determination of mercury, cadmium, lead, zinc, selenium and iron by ICP-OES in mushroom samples from around thermal power plant in Mugla, Turkey.

Scleroderma verrucosum, Stropharia coronilla, Lactarius deterrimus, Chroogomphus rutilus, Russula delica, Laccaria laccata, Clitocybe odora var. alba, Lyophyllum decastes, Coprinus comatus, Helvella leucomelaena, Melanoleuca cognata, Melanoleuca cognata, Paxina acetabulum, Clitocybe vermicularis, Sarcosphaera crassa, Rhizopogon roseolu and Thelephora caryophyllea were collected from different localities in Mugla-Yatagan region of Turkey. Their trace metals concentrations were determined by ICPOES after microwave digestion. The results were 0.37 ± 0.01-5.28 ± 0.21 for cadmium, 467 ± 19-3,280 ± 131 for iron, 0.69 ± 0.03-9.15 ± 0.37 for lead, 18.70 ± 0.75-67.10 ± 2.68 for selenium, 75 ± 3-213 ± 8 for zinc and 0.15 ± 0.01-0.55 ± 0.01 for mercury (as µg/g). The detection limits for ICPOES were found as 0.25 for Cadmium, 0.2 for iron, 0.1 for lead, 0.5 for selenium, 0.2 for zinc and 0.03 for mercury (as mg L(-1)). The Relatively Standard Deviations (R.S.D.) were found below 4.0%. The accuracy of procedure was confirmed by certified reference material.

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women.

UNLABELLED: In this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group. INTRODUCTION: Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. Several candidate gene polymorphisms have been implicated in the regulation of this process. In this study, the relationship among BMD values of lumbar vertebra and femoral neck and ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphism in 126 postmenopausal women (30 normal, 46 osteopenic, and 50 osteoporotic in terms of bone mineral density) was researched. METHODS: The ERα gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) whereas the COL1A1 gene Sp1 genotype was determined by real-time PCR. BMDs at the lumbar spine (vertebrae L1-L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry. RESULTS: According to our study results, the significant difference was found in women with normal, osteopenic, and osteoporotic bone mass in terms of ERα gene PvuII polymorphism "pp" genotype frequency. The "pp" genotype frequency was significantly lower in women with normal bone mass. Average lumbar vertebra BMD value of women with "PP" genotype was significantly higher than that with "pp" genotype. On the other hand, in the evaluations on ERα gene XbaI polymorphism and COL1A1 gene Sp1 polymorphism, it was noted that there was no difference in terms of average BMD values, genotype, and allele frequencies among groups. CONCLUSION: In conclusion, it was designated that ERα gene PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.

Comparison of the effect of LMA and ETT on ventilation and intragastric pressure in pediatric laparoscopic procedures.

BACKGROUND: The aim of our study was to compare classic laryngeal mask airway (LMA-C) with the endotracheal tube (ETT) in pediatric laparoscopic surgery to evaluate the intragastric pressures (IGP) using intragastric pressure monitoring. We also sought to investigate the related influence on respiratory parameters. METHODS: The Ethics Committee of the Health Institution approved the study protocol. A total of 40 patients, ASA I-II, three and a half months to 12 years old were included in this randomized study. Two study groups were formed: the ETT group and the LMA-C group. A nasogastric tube was inserted following induction to evacuate any intragastric gas and fluid before application of either LMA-C or ETT. The change in IGP was measured with a transducer, which was attached to the nasogastric tube. IGP, peak airway pressures (PAP), SPO2 and ETCO2 were recorded. Repeated ANOVA measures were used to evaluate the change in IGP, PAP, SPO2 and ETCO2 times in both groups. RESULTS: The change in IGP was not significant among the groups except at 15 and 30 minutes (P<0.05). The changes in PAP, SPO2, and ETCO2 levels were not significant. CONCLUSION: The perioperative intragastric pressure evaluation failed to show any significant change in intragastric pressures and ventilation parameters due to the application of LMA-C in this study. We advocate LMA-C application as a feasible anesthetic device in pediatric laparoscopic surgery.

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects.

Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B(12) and methionine, whereas homocysteine levels are increased. We examined folate, vitamin B(12) and homocysteine serum concentrations and polymorphism of the C677T MTHFR gene in Turkish children with neural tube defects. Thirty-three children with NTDs, 26 mothers and 48 healthy individuals were studied. C677T MTHFR polymorphism was determined by melting curve analyses (LightCycler). The levels of folate, vitamin B(12) and homocysteine serum concentrations in NTDs were evaluated and compared, along with information concerning alleles of the MTHFR gene. C677T allele frequencies in NTD children and their mothers were similar to those found in controls. Serum folate and vitamin B(12) concentrations were significantly higher in NTD children than that of controls. Serum homocysteine concentrations were not significantly higher in NTD children and mothers. We concluded that C677T MTHFR gene polymorphism does not affect folic acid, vitamin B(12) and homocysteine metabolism in Turkish children with NTDs. C677T polymorphism of the MTHFR gene cannot be regarded as a major risk factor for NTDs in Turkish children.

The function of microRNAs, small but potent molecules, in human prostate cancer.

Prostate cancer is one of the most significant cancers of men all over the world. The microRNAs (miRNAs) possess crucial functions in pathogenesis of the disease and its gain of androgen independency. The miRNAs are small, approximately 18-24 nucleotides, non-coding, endogenously synthesized RNAs that regulate gene expression post-transcriptionally. They are found in viruses, plants, and animal cells. The miRNAs have critical functions in gene expression and their dysregulation may cause tumor formation and progression of several diseases. Here, we have reviewed the most current literature to elucidate the function of miRNAs in human prostate cancer. We believe that this will help investigators not only working in prostate cancer, but also studying the miRNAs in other diseases to delineate the functions of miRNAs implicated in human prostate cancer development and progression.

Morchella anatolica (Ascomycota), a new species from southwestern Anatolia, Turkey.

Morchella anatolica (Ascomycota, Pezizales, Morchellaceae), a new species collected from pine forest of southwestern Anatolia, Turkey, is described and illustrated.

Evaluation of metal concentration and antioxidant activity of three edible mushrooms from Mugla, Turkey.

This study is designed for the determination of metal concentrations, antioxidant activity potentials and total phenolics of Amanita caesarea, Clitocybe geotropa and Leucoagaricus pudicus. Concentrations of four heavy metals (Pb, Cd, Cr, Ni) and five minor elements (Zn, Fe, Mn, Cu, Co) are determined. In the case of A. caesarea, Cr and Ni concentrations are found in a high level. Concentrations of the metals are found to be within safe limits for C. geotropa. In beta-carotene/linoleic acid test, L. pudicus showed the highest activity potential. In DPPH system, A. caesarea showed 79.4% scavenging ability. Additionally, reducing power and chelating capacity of the mushrooms increased with concentration. The strongest super-oxide anion scavenger was A. caesarea. In the case of total phenolics, L. pudicus found to have the highest content.

Is nerve stimulation needed during an ultrasound-guided lateral sagittal infraclavicular block?

BACKGROUND: The objective of the study was to evaluate the influence of ultrasound (US) guidance alone vs. neurostimulation (NS) and US (NSUS) guidance techniques on block performance time and block success rate for the lateral sagittal infraclavicular block (LSIB). METHODS: In a randomized and prospective manner, 110 adult patients scheduled for distal upper limb surgery were allocated to the US or the NSUS groups. In the US group, a local anesthetic (LA) was administered only with US guidance to produce a 'U'-shaped distribution around the axillary artery. In the NSUS group, LA was administered under US guidance only after electrolocation of one of the median, ulnar or radial nerve-type responses. A total of 30 ml of LA (10 ml of levobupivacaine 5 mg/ml and 20 ml of lidocaine 20 mg/ml) was administered in both groups. Sensory block was tested at 10 min intervals for 30 min. Successful block was defined as analgesia or anesthesia of all five nerves distal to the elbow. RESULTS: Block success rate was 94.5% in both groups. Block performance time was significantly shorter in the US than the NSUS group (157 +/- 50 vs. 230 +/- 104 s) (P=0.000). Block onset time was similar in both groups (12.5 +/- 4.8 in the US vs. 12.8 +/- 5.4 min in the NSUS groups). There were two arterial punctures in the NSUS group. CONCLUSIONS: During LSIB performance US guidance alone produces block success rate identical to both US and NS guidance yet with a shorter block performance time.