Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process and establishing a genotype-phenotype association in childhood MFS can be challenging. The lack of sufficient childhood studies also makes it difficult to interpret the subject. This study aims to evaluate the relationship between clinical symptoms used as diagnostic criteria and FBN1 variations in children with MFS. This study investigated the relationships between genotypes and phenotypes in 131 children suspected of having Marfan syndrome (MFS). Diagnosis of MFS was made according to the revised Ghent nosology. FBN1 variants were categorized based on exon regions, type of variant, and pathogenicity classes. These FBN1 variants were then correlated with the clinical manifestations including cardiovascular, ocular, facial, and skeletal abnormalities. Out of the children, 43 were diagnosed with MFS. FBN1 variant was identified in 32 (74.4%) of the MFS children. MFS diagnosis could not be made in five (15.6%) FBN1 variant-positive children. The most common cardinal finding is cardiac anomalies n = 38 (88.3%). The most common FBN1 pathogenic variant was c.1786 T > C/p.Cys596Arg n = 4 (12.5%). The distribution of pathogenic variants was as follows: 29 (90.6%) missense, 2 (6.3%) frameshift, and 1 (3.1%) nonsense. The numbers of AD and EL of the variant-positive children were 16 (50%) and 14 (43.7%), respectively. Ocular abnormalities were more common in children with FBN1-positive MFS (p = 0.009). There was no difference in the number of cardiac abnormalities between FBN1-positive and FBN1-negative MFS patients (p = 0.139).   Conclusion: This study examines the relationship between FBN1 variants and clinical features used as diagnostic criteria in MFS children. The findings emphasize the importance of long-term monitoring of heterogeneous clinical phenotypes and bioinformatic reanalysis in determining the genotype-phenotype relationship in children, as MFS symptoms can vary with age. What is Known: • Marfan syndrome has highly variable phenotypic heterogeneity. • The genotype-phenotype relationship in childhood Marfan syndrome is not clear enough due to the variation in the time of onset of the findings. What is New: • This article provides regional data for the field of research on genotype-phenotype relationships in childhood Marfan syndrome. • Long-term follow-up of clinical findings and bioinformatics reanalysis is an important requirement for a well-established genotype-phenotype relationship in childhood Marfan syndrome.

A cross sectional study on airborne inhalable microorganisms, endotoxin, and particles in pigeon coops - Risk assessment of exposure.

Pigeon breeding is associated with symptoms of the airways. The aim of this study is to illuminate the bacteriological and toxicological characteristics of airborne dust in pigeon coops. Airborne dust was sampled in 31 urban pigeon coops with homing and fancy pigeons, and following the dust was characterized. In total 141 different bacterial species were identified using MALDI-TOF MS, and of these 11 species are classified in risk group 2. Of the cultivable bacteria, Staphylococcus equorum was present in the highest concentration. Microorganisms in the dust were able to form biofilm, and the amount correlated positively with the number of bacteria. Next generation sequencing showed 180 genera with Acinetobacter in highest reads. On average 999 ± 225 ZOTUs were observed per sample with a Shannon-Wiener biodiversity index of 6.17 ± 0.24. Of the identified species the following have previously been suggested as causative agents of extrinsic allergic alveolitis: Alcaligenes faecalis, Bacillus subtilis, Pantoea agglomerans, Sphingobacterium spiritivorum, Thermoactinomyces sp., and Streptomyces albus. Staphylococcus was present on particles with sizes between 1.1 and > 7.0 µm with a geometric mean diameter of particles on 4.7 ± 1.1 µm. Concentrations of airborne endotoxin and dust were elevated compared to references, and the geometric mean concentrations were 102 EU/m3 and 1.07 mg dust/m3, respectively. Upon exposure to the airborne dust human granulocytes produced Reactive Oxidative Species during the first 5 min, and then no further reaction was observed. The concentrations of bacteria in general, Staphylococcus spp., and endotoxin and biodiversity were associated significantly with season, temperature and/or relative humidity, but not with type or density of pigeons. The bacterial composition and biodiversity indices were not affected by type of pigeon. In conclusion, the exposure to bacteria and endotoxin in pigeon houses should not be neglected in the evaluation of causative agents of airways symptoms among pigeon breeders.

Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency.

BACKGROUND/AIM: Biotin is a vital micronutrient that plays a role in metabolic homeostasis and the regulation of innate and adaptive immune system functions. Biotinidase deficiency (BTD) leads to impairment in biotin-dependent immune functions. This study focused on immunophenotypic analysis of lymphocyte subsets in newborns with BTD. PATIENTS AND METHODS: A total of 181 (95 female and 86 male; 114 had BTD and 67 were healthy) newborns underwent biotinidase enzyme activity, molecular and lymphocyte immunophenotyping analyses. BTD is classified into four biochemical phenotypes: profound, partial, heterozygous and normal. The following lymphocyte subsets were studied in all participants: total B lymphocyte (CD19), total T lymphocyte (CD3), helper T lymphocyte (CD3/CD4), cytotoxic T lymphocyte (CTL) (CD3/CD8), natural killer T lymphocyte (CD16/56) and a T-lymphocyte activation marker (HLA-DR). RESULTS: The percentages of lymphocyte subsets were similar in newborns with and without BTD. In all newborns with BTD, the mean CD3/CD4 levels were higher in females, while the CD3/CD8 levels were higher in males (P < .001 for each). In female and male newborns, the CD3/CD4 levels were 53.83 ± 9.46 and 16.82 ± 5.19, respectively, and the CD3/CD8 levels were 48.80 ± 8.65 and 21.48 ± 6.02, respectively. A moderate negative correlation was found between CD3/CD4 and CD3/CD8 in female and male newborns (rfemale  = -0.488, rmale  = -0.574, P < .001). CONCLUSION: This study showed that although there were no differences in the lymphocyte subsets in newborns with BTD, the CD3/CD4 levels were higher in females, and the CD3/CD8 levels were higher in males. In addition, there was a negative correlation between the CD3/CD4 and CD3/CD8 levels in both genders. Although these results indicate sexual dimorphism between CD3/CD4 and CD3/CD8 levels, whether this dissociation is unique to BTD in newborns is not fully clear.

Exhaled TGF-ß1 levels before and after an exercise challenge in asthmatic and healthy children, and during exacerbation.

BACKGROUND: There is conflicting data regarding the role of transforming growth factor-ß1 (TGF-ß1) in the pathogenesis of airway hyper-reactivity and asthma exacerbation. OBJECTIVE: To investigate the role of exhaled-TGF-ß1 in exercise-induced bronchospasm (EIB) in asthmatic and nonasthmatic healthy children, and in asthma exacerbation and asthma control. METHODS: The exhaled-TGF-ß1 levels of 56 stable asthmatic children and 15 nonasthmatic healthy children were evaluated before and 30 min after an exercise challenge. The exhaled-TGF-ß1 levels of 20 additional children with asthma exacerbation were evaluated. RESULTS: While no significant difference in the exhaled-TGF-ß1 levels was found at the baseline, exhaled-TGF-ß1 levels after the exercise challenge were significantly higher in the non-EIB (n = 31) asthmatics when compared to the asthmatic children with EIB (n = 25) (p = 0.04). Although there was a statistically significant increase in the concentration of the exhaled-TGF-ß1 after the exercise challenge in the non-EIB asthmatics (p = 0.008), the concentration of the TGF-ß1 was not increased after the exercise challenge in EIB + asthmatics. The exhaled-TGF-ß1 was significantly correlated with the ACT score (p = 0.01, r = 0.49) and the baseline FEV1 level (p = 0.02, r = 0.35). The exhaled-TGF-ß1 levels were significantly higher in the stable asthmatic children when compared to the nonasthmatic children (p < 0.0001). There was no significant difference in exhaled-TGF-ß1 levels after the exercise challenge in the nonasthmatics. The exhaled-TGF-ß1 levels were significantly lower in those children with asthma exacerbation when compared to the stable asthmatic children (p = 0.0003). CONCLUSION: Our results suggest that TGF-ß1 may play a role in suppressing airway reactivity and its deficiency is associated with asthma exacerbation.

Thiol/Disulfide Homeostasis in Patients With Erectile Dysfunction.

BACKGROUND: Although there are no sufficient data on association between oxidative stress and erectile dysfunction (ED), numerous studies have reported that imbalance between the formation of reactive oxygen species and body's antioxidant defenses may play a role in the pathogenesis of ED. AIM: The aim of this study was to determine and compare the oxidant and antioxidant status in patients with ED and healthy controls with a novel automated assay for thiol/disulphide homeostasis test. METHODS: Our study included 123 patients with ED and 90 healthy individuals. ED was evaluated by asking questions 1-5 and 15 of the International Index of Erectile Function form. In this study, we used Erel and Neselioglu's thiol/disulfide homeostasis test, which is one of the novel methods that can measure both variables of the oxidative/antioxidative balance individually and collectively. OUTCOMES: This method measured serum antioxidant (total thiol [toSH], native thiol [SH]) and oxidant (disulfide [SS]) levels. The statistical comparisons were performed between patients with ED (ED+ group) and without ED (ED- group) first and then within the ED+ group. After toSH, SH, and SS levels were determined; SS/toSH%, SS/SH%, and SH/toSH% levels were analyzed separately and compared statistically. RESULTS: We found a significant difference between ED- and ED+ groups in terms of toSH, SH, SS/toSH%, and SS/SH% ratios. SS parameters were increased in patients with ED, but there was no significant difference in terms of SS and SH/toSH% values. CLINICAL IMPLICATIONS: Clarification of the factors involved in the etiology of ED such as oxidative/antioxidative balance may open new grounds in the early diagnosis and treatment of the disease. STRENGTHS & LIMITATIONS: It is a prospective, randomized clinical study with the use of a novel, reliable, and fully automated technique. The limitations of the study are use of a subjective tool such as the International Index of Erectile Function, obtaining blood samples from the peripheral vein instead of penile cavernosal tissue, and relatively small sample size. CONCLUSION: The results of this study showed that thiol/disulfide homeostasis is altered in ED, and this imbalance may be a factor in its pathophysiology. We determined that as ED gets more severe, toSH and SH parameters decrease, whereas SS parameter increases. Micoogullari U, Karatas OF, Kisa E, et al. Thiol/Disulfide Homeostasis in Patients With Erectile Dysfunction. J Sex Med 2020;17:1934-1941.

Incidence of new onset type 1 diabetes in siblings of index cases with type 1 diabetes within the first 11 years in Turkish children.

AIM: Although newly diagnosed type 1 diabetes mellitus (T1DM) occurs sporadically in childhood, there is an increased risk of T1DM for first-degree relatives of patients that endure into the advanced years. Determination of T1DM incidence in siblings of children with T1DM helps predict the development of new cases. This study focuses on the incidence of the disease in siblings of children with T1DM. METHOD: A total of 1497 siblings of 850 children (403 female; 447 male) diagnosed with T1DM between 2007 and 2018 years were retrospectively screened for T1DM. The patients were divided into four onset age groups: 0-4, 5-9, 10-14 and ≥15. The annual incidence was calculated for the region. RESULTS: A total of 34 siblings diagnosed with T1DM were detected. The incidence relating to the years investigated was between 7.42 and 11.73/100 000 for the newly diagnosed indexes while it ranged between 0 and 5.8% for siblings. The 5-9 year group was the most commonly diagnosed onset age group in index (n = 312) and siblings (n = 20). For siblings, the male sex and 5-9 aged at diagnosis of index were significant risk factors for development of T1DM (OR:2.35 and 2.85). CONCLUSION: This study shows that in the first years following the diagnosis of an index, incidence of T1DM among the siblings can rise up to 5.8%, and the age group of 5-9 in the index and the male sex in the sibling are the most important risk factors. These findings show that the risk for siblings of children with T1DM remarkably increases in the first years after diagnosis in index cases.

Preoperative neutrophil-to-lymphocyte ratio as a new prognostic predictor after microsurgical subinguinal varicocelectomy.

Various studies have been reported to predict the success of varicocelectomy. Neutrophil-lymphocyte ratio (NLR) is a frequently used indicator of systemic inflammation. We aimed to evaluate the effect of inflammation on the success of varicocelectomy using the NLR. The data of 86 patients who underwent varicocelectomy for infertility were evaluated retrospectively. Pre-operative demographic characteristics of patients, laboratory results such as haemogram, and semen analysis and clinical data were recorded. The semen analysis with the highest total motile sperm count was accepted as pre-operative value. Control was performed with semen analysis at post-operative 6th month. As described in previous studies, in our study, more than 50% increase in total motile sperm count in post-operative semen analysis was defined as a significant improvement. However, at least a 100% increase was required for patients with a total motile sperm count <5 million in the definition of recovery. Patients were divided into two groups as those with improvement in the semen parameters (Group 1) and those without (Group 2). NLR was statistically significantly higher in Group 2 compared with Group 1. The area under the curve (AUC) in the ROC curve for NLR was 0.89. According to the Youden index, the best cut-off value of NLR for varicocelectomy success was 1.98 (sensitivity: 94.7%, specificity: 75.9%, p < 0.001). Logistic regression analysis showed that NLR (odds ratio: 3.6, 95% confidence interval: 1.69-8.38, p < 0.001) is independent predictor factors in predicting the success of varicocelectomy. The results of this study show that systemic inflammation adversely affects the likelihood of improvement in sperm parameters by varicocelectomy. Additionally, NLR has been shown to be an independent factor in the prediction of varicocelectomy success.

A hereditary angioedema screening on an index case: Turkey.

BACKGROUND: Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal. OBJECTIVE: The present study aimed to screen HAE. METHODS: A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined in 9 patients with HAE. RESULTS: A positive correlation between the C1 esterase inhibitor protein levels and C4 level was detected in the group as a whole (p < 0.001, r = 0.725, n = 60). Anegative correlation between the C1 esterase inhibitor protein level and severity score was observed in the whole group (p < 0.001, r = -0.486, n = 60). A negative correlation was also detected in the entire group between the C4 level and severity score (p = 0.002, r = -0.389, n = 60). In the patients with HAE, a positive correlation between the C1 esterase inhibitor protein level and C4 levels was detected (p = 0.034, r = 0.705, n = 9). A heterozygous c. 601A > T nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-in patients with Type 1 HAE. CONCLUSION: It is well known that there is a prolonged delay in the diagnosis of HAE. The present study demonstrates that it is very important and even life-saving to screen for HAE on the basis of an index case.

The Role of Hematological Parameters in Predicting Fuhrman Grade and Tumor Stage in Renal Cell Carcinoma Patients Undergoing Nephrectomy.

Background and objective: We investigated the ability of preoperative serum values of red blood cell distribution width (RDW), neutrophil lymphocyte ratio (NLR) and plateletcrit (PCT) to predict Fuhrman grades (FG) and tumor stages of renal cell carcinoma in patients who underwent radical nephrectomy. Materials and methods: Records of 283 patients that underwent radical or partial nephrectomy of renal masses at our clinic between January 2010 and April 2018, whose pathology results indicated renal cell carcinoma (RCC), and who had their FG and T1-4 N0M0 identified were retrospectively evaluated. The patients were divided into two groups based on their FG as low (I-II) and high (III-IV) and their T stages were similarly grouped as limited to kidney (pT1-pT2) and not limited to kidney (pT3-pT4). Results: Mean RDW, NLR, PCT cut-off values of the patients for FG and T stage were 15.65%, 3.54, 0.28% and 14.35%, 2.69, 0.28%, respectively. The RDW and NLR were determined to be statistically significant predictors of a pathologically high FG, whereas the PCT value was not a statistically significant predictor of high FG (p = 0.003, p = 0.006, p = 0.075, respectively). The relationship of RDW, NLR and PCT values with a limited to the kidney pathological T stage revealed statistically significant correlations for all three values. Conclusions: We determined that only RDW and NLR were markers predicting FG, while PCT had no prognostic value. On the other hand, all three of these values were associated with a limited to the kidney pathological T stage in patients who underwent nephrectomy due to renal masses and whose pathologies suggested RCC.

Waist to height ratio as a screening tool for identifying childhood obesity and associated factors.

OBJECTIVE: To investigate the prevalence of obesity and associated factors during childhood in Southeastern Turkey. Another objective was to determine the cut-off points of Waist to Height Ratio (WHtR) values for defining obesity/abdominal obesity. METHODS: The community-based descriptive cross-sectional study was conducted in Gaziantep Turkey between November 2011 and December 2011 with 2718 primary school/high schools students aged 6-17 years. The SPSS 22.00 was used for the analysis of data. RESULTS: The prevalence of overweight, obesity, abdominal obesity, was 13.2%, 4.2% ,26.4%, respectively. There was a reverse relationship between BMI/WC values and sleep durations (p<0.05). The BMI/WC values were higher in students with computer usage time ≥1 hours in a day (p<0.05). Parental obesity status has an effective role on the WC/BMI values of children (p<0.05). The WHtR was a good predictor of diagnosis on obesity and abdominal obesity (AUC=0.928, p<0.0001; AUC=0.920, p<0.0001; respectively). The optimal cut-off values for obesity and abdominal obesity were detected as 0.5077, 0.4741, respectively. CONCLUSIONS: The WHtR can be used for diagnosis of obesity/abdominal obesity. Parental obesity, short sleep duration and computer use more than one hour per day are risk factors for the development of obesity in children and adolescents.

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene.

INTRODUCTION: Hereditary angioedema (HAE) may be fatal and diagnosis can be delayed up to 10 years. We aimed to screen HAE in two villages based on an index case of HAE and to investigate for the mutation of the C1 esterase inhibitor (C1-INH) gene. MATERIAL AND METHODS: A total of 124 people were screened in two villages. The frequency and severity of symptoms were scored. C4, C1-INH levels and C1-INH activity were measured. We investigated for mutations of the C1-INH gene. RESULTS: Thirty-five cases of type I HAE and 7 cases of type II HAE were determined. Thirty-one (73.8%) patients diagnosed with HAE were 18 years old or younger. There was a positive correlation between C4 levels, C1-INH levels (p < 0.0001, r = 0.81), and C1-INH activity levels (p < 0.0001, r = 0.631) and between the age at diagnosis and severity score (p < 0.0001, r = 0.651). A positive correlation was found between the age at first symptom onset and C4 levels (p = 0.002, r = 0.774), and C1-INH levels (p = 0.006, r = 0.714). A marginally significant negative correlation was found between C1-INH activity levels and severity scores (p = 0.1, r = -0.515). We identified a novel heterozygous 1033G>T missense variant of the C1-INH gene, SERPING1, in patients with type I HAE. CONCLUSIONS: There are long delay periods in the diagnosis of HAE and when the index case is present, family screening may be very important and even life-saving, in particular, in paediatric patients without symptoms. Furthermore, the present study provides evidence to link a novel mutation, c.1033G>T, to the development of HAE in a large HAE family from Turkey.

Predictive factors of successful salvage microdissection testicular sperm extraction (mTESE) after failed mTESE in patients with non-obstructive azoospermia: Long-term experience at a single institute.

OBJECTIVE: To observe the clinical practice of salvage microdissection testicular sperm extraction (mTESE) in patients with non-obstructive azoospermia (NOA) and to determine the factors that may predict the presence of spermatozoa in preoperative salvage mTESE. METHODS: We retrospectively reviewed the medical records of 445 patients with the diagnosis of NOA, who had undergone the mTESE operation consecutively in our institution between the dates of March 2008 and June 2017. The study included a total of 49 patients with failure to detect spermatozoa in the first mTESE and who had then undergone salvage mTESE. In order to investigate the factors that predict the result of salvage mTESE, the patients were classified into two groups according to the outcome of salvage mTESE, as those with and without spermatozoa retrieval. Patients in these two groups were compared with regard to age, body mass index, history of varicocele, history of cryptorchidism, duration of infertility, outcomes of genetic analysis, results of hormone profiles and the testicular histopathology results of the first mTESE. RESULTS: The sperm retrieval rate following salvage mTESE was observed to be 42.8%. Statistically a significant difference was determined between the mean follicle stimulating hormone (FSH) values of the groups (p = 0.013). No significant difference was observed between the groups with regard to the remaining parameters. CONCLUSION: It was observed that among the factors that predict the success of sperm retrieval in salvage mTESE in patients with NOA and previous unsuccessful sperm retrieval in mTESE operation, only the pre-operative FSH level was observed to significantly correlate with the success in salvage mTESE.

Pathology outcomes in patients with transurethral bladder tumour resection in a Turkish population: A retrospective analysis.

OBJECTIVES: Transurethral bladder tumour resection (TURBT) is the common surgical method used in the diagnosis, staging and treatment of patients with bladder tumour. Most of the rare tumours other than the urothelial carcinomas of the bladder are in advanced stage on diagnosis and necessitate aggressive treatment. In our study, we aimed to the histologic types of bladder cancer and to determine the regional incidence of rare bladder cancer types in our region. MATERIALS AND METHODS: We retrospectively evaluated 815 patients who underwent TURBT surgery between January 2010 and March 2016 in our clinic with a diagnosis of bladder cancer and at least 1 year follow-up. Patients with tumour histopathological examination including histological tumour type, grade and were reported. Thirty-nine patients with an unclear pathology report (neighboring organ invasion, cautery artifact, etc) and 17 patients whose data could not be accessed were excluded from the study. The patients who had received chemotherapy or radiotherapy due to any type of malignancy (23) were also excluded from the study. RESULTS: The outcomes of 736 patients operated in our clinics due to bladder tumour were evaluated. The mean age was 65.2 ± 8.4; 135 were female and 601 were male. Among them 711 patients with urothelial carcinoma were reported (94.2%). According to TNM classification, stage Ta was observed in 270 patients (37.9%), stage T1 in 297 (41.7%), and stage T2 in 144 (20.3%). Non-urothelial cancers were reported in 25 cases (3.3%). CONCLUSION: The incidence of bladder carcinoma varies between regions. The results of our study are similar to those of the western countries. Increased smoking and exposure to environmental carcinogenetic agents may lead to altered incidences and histological types of bladder tumours. Revision of regional tumour records may be useful to develop and evaluate future treatment strategies.

The effect of the American Society of Anesthesiology classification scores on complications associated with percutaneous nephrolithotomy.

OBJECTIVES: We aimed to evaluate the effect of American Society of Anesthesiology (ASA) classification scoring and age on complications and surgical outcomes during and after percutaneous nephrolithotomy (PCNL) operation. MATERIAL AND METHODS: The records of 263 patients, above the age of 18 years, that underwent PCNL surgery between October 2014 and May 2017 were evaluated retrospectively. The patients were divided into three groups based on their ASA risk scores (ASA 1, 2, 3) and into two groups based on their age (younger and older than 65 years). Postoperative complications were assessed according to the ASA groups and age and according to the Clavien classification system. RESULTS: The number of patients in the ASA 1, 2, and 3 groups were 97 (36.8%), 131 (49.8%) and 35 (13.3%), respectively. Four patients in ASA4 were not included in the study. There was no significant difference in ASA 1, 2, 3 groups in terms of changes in Hgb values, mean duration of operation, and mean hospital stay. When ASA1 was compared to ASA3 and ASA2 was compared to ASA3, there was no significant difference in the incidence of all complication rates. There were 159 (60.4%) patients in the young group and 104 (39.5%) patients in the elderly group. Postoperative PCNL complications of these 2 groups were compared according to Clavien classification system and no significant difference was found in incidence of complications. CONCLUSIONS: We believe that PCNL operation can be performed effectively and safely in both ASA3 patients and patients above the age of 65 years.

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.

Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.

The Predictive Value of Neutrophil-Lymphocyte and Platelet-Lymphocyte Ratio for the Effusion Viscosity in Otitis Media With Chronic Effusion.

OBJECTIVE: The objective of the authors' study was to investigate the predictive value of the neutrophil-lymphocyte rate (NLR) and platelet-lymphocyte rate (PLR) in otitis media with effusion and the correlation of the effusion type with these ratios. STUDY DESIGN: Retrospective case-control study. METHODS: One hundred twenty-six pediatric patients diagnosed otitis media with chronic effusion and had ventilation tube inserted between October 2015 and July 2016 were included in the study group and 124 healthy children, who applied for the routine examination and had blood count analysis, were included in the control group. The patients in the study group were divided into 2 groups regarding the effusion viscosity, which was obtained from the patients' operation files. Seventy-one patients were included in the serous group and 55 patients in the mucous group. The NLR and PLR rates of the groups were compared and statistically evaluated. RESULTS: The average NLR and PLR rates were significantly higher in the study group than in the control group (P = 0.000, P = 0.004 respectively). Comparison of the serous and mucous groups with the control group revealed a significant difference between the control group and the serous group regarding the NLR and PLR (P = 0.000; P = 0.000 respectively), but not between the control group and mucous group (P = 0.694; P = 0.691 respectively). CONCLUSION: Neutrophil-lymphocyte rate and PLR had a predictive value for otitis media with effusion and additionally it was a laboratory indicator supporting the typing of the viscosity of the fluid accumulated in the middle ear.

Investigation of the effect of body mass index (BMI) on semen parameters and male reproductive system hormones.

AIM: To evaluate the effects of body mass index (BMI) ratio on semen parameters and serum reproductive hormones. MATERIALS AND METHODS: The data of 454 patients who prsented to male infertility clinics in our hospital between 2014 and 2015 were analyzed retrospectively. Weight, height, serum hormone levels and semen analysis results of the patients were obtained. BMI values were calculated by using the weight and height values of the patients and they were classified as group 1 for BMI values ≤ 25 kg/m2, as group 2 for BMI values 25-30 kg/m2 and as group 3 for BMI values ≥ 30 kg/m2. RESULTS: The mean values of BMI, semen volume, concentration, total motility, progressive motility, total progressive motile sperm count (TPMSC), normal morphology according to Kruger, head abnormality, neck abnormality, tail abnormality, FSH, LH, prolactin, T/E2, total testosterone and estradiol parameters of the patients were considered. Patients were divided according to BMI values in Group 1 (n = 165), Group 2 (n = 222) and Group 3 (n = 56). There was no statistically significant difference in terms of all variables between the groups. CONCLUSIONS: We analyzed the relationship between BMI level and semen parameters and reproductive hormones, demonstrating no relationship between BMI and semen parameters. In our study, BMI does not affect semen parameters although it shows negative correlation with prolactin and testosterone levels.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

The incidence and sequela of lymphocele formation after robot-assisted extended pelvic lymph node dissection.

OBJECTIVE: To determine an accurate incidence of lymphocele formation and its sequela after robot-assisted radical prostatectomy (RARP) and extended lymph node dissection (eLND) in a contemporary prostate cancer cohort. PATIENTS AND METHOD: Consecutive patients who underwent RARP and eLND and had a minimum follow-up of 3 months were included. All surgeries were performed by one surgeon via a transperitoneal approach, with patients uniformly receiving low-molecular-weight heparin. Patients were followed with serial ultrasonography (US) based on a predetermined schedule for lymphocele surveillance. Incidence and sequelae of lymphoceles were retrospectively assessed. RESULTS: In all, 521 patients were analysed. The mean (sd) follow-up was 33.5 (22.8) months. Lymphocele developed in 9% and became symptomatic in 2.5%. All except one were detected at the 1-month postoperative US; however, 76% regressed by the 3-month US. If lymphocele persisted at 3 months, 64% developed symptoms associated with infection and required drainage. Having diabetes mellitus was significantly associated with a higher risk of developing an infected lymphocele. Other symptoms related to lymphocele were rare. Comparisons of patient characteristics between patients with and without lymphoceles did not show any significant prognostic indicators to predict the occurrence of lymphocele in neither univariate nor multivariate analysis in the present cohort. CONCLUSION: The incidence of symptomatic lymphocele after transperitoneal RARP and eLND is rare. However, during follow-up, US imaging at 3 months after surgery appears advisable. If a lymphocele is detected at the 3-month follow-up US discussing percutaneous external drainage with the patient appears to be wise, as it may prevent the development of a symptomatic lymphocele in two-thirds of such patients.

Genetic associations of the response to inhaled corticosteroids in children during an asthma exacerbation.

BACKGROUND: Genetic associations of the response to inhaled corticosteroids (ICSs) during an asthma exacerbation are unknown. OBJECTIVE: To evaluate the role of genetic variants in the therapeutic response to high-dose ICS in children with moderate-to-severe asthma exacerbations. METHODS: Eighty-two children (56 boys/26 girls, mean age 9.6 ± 3.2 years) with moderate-severe asthma exacerbation were genotyped for eight single-nucleotide polymorphisms that were a priori associated with ICS response in chronic asthma treatment: glucocorticosteroid receptor (NR3C1) rs41423247; corticotrophin-releasing hormone receptor1 (CRHR1) rs242939, rs242941, and rs1876828; T-box 21 (TBX21) rs2240017; glucocorticoid-induced transcript 1 (GLCCl1); and T gene rs3099266 and rs2305089. Children were treated with a single high-dose (4000 µg) fluticasone propionate given by a nebulizer followed by 1000 µg/day of inhaled fluticasone propionate for 6 days. Primary outcome measure was the improvement in FEV1 at 4 h. RESULTS: Mean FEV1 was 71.7 ± 14.2% at presentation. Overall, fluticasone treatment resulted in a significant improvement in asthma score and FEV1 (p < 0.0001 for both). Children with the GG genotype at NR3C1 rs41423247 (n = 26) had a higher improvement in FEV1 [24.2% (interquartile range 11.5-36.3)] compared to those with CG+CC (n = 19), [7.9% (interquartile range 6.1-24.6) (p = 0.006)]. CONCLUSION: Homozygosity for the G allele at rs41423247 of the glucocorticosteroid receptor (NR3C1) gene is associated with a higher improvement in FEV1 at 4 h in children with moderate-to-severe asthma exacerbation treated with high-dose ICS. This observation may have important clinical implications especially for children who use systemic steroids frequently for recurrent asthma exacerbations.