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.

Variation coefficient of stone density and renal cortical thickness: the parameters evaluating non-contrast computed tomography imaging for predict extracorporeal shock wave lithotripsy success.

The stone density (SD) is not the same in all parts of the stone due to the heterogeneous nature of the stone and the shock wave (SW) passes through tissues of many different densities until it reaches the stone. These factors affect the success of Extracorporeal Shock Wave Lithotripsy (ESWL). We aimed to evaluate the effect of the Variation Coefficient of Stone Density (VCSD) and Renal Cortical Tickness (RCT) on the success of ESWL. Between 2020 and 2023, 510 patients who underwent ESWL were divided into 2 groups treatment success (n:304) and treatment failure (n:206). Non-Contrast Computed Tomography (NCCT) imaging values of hydronephrosis degree of the kidney, stone location, stone volume (SV), stone-skin distance (SSD), SD, Standard deviation of Stone Density (SDSD), VCSD, RCT, Soft-Tissue Thickness (STT), Muscle Thickness (MT) were analyzed. VCSD value was obtained by dividing SDSD by SD. Along the SW, tissues were divided into three components: kidney (renal cortex), muscle and other soft tissues. RCT, MT and SSD were measured at three different angles (0°, 45°, and 90°) and these 3 lengths were averaged. In univariate analysis, Body Mass Index (BMI), SV, SD, VCSD, SSD, RCT and STT were demonstrated to affect ESWL success. In multivariate analysis, low BMI, SV, SD, RCT and large VCSD were significant independent predictors of ESWL success. Among these parameters, VCSD had the highest prediction accuracy, followed by SD, SV, RCT and BMI, respectively. This study demonstrated that VCSD value and RCT are predictive parameters in determining the treatment of patients with urinary calculi and selecting suitable ESWL candidates.

Effects of hydronephrosis on the surgical outcomes of fluoroscopically guided supine percutaneous nephrolithotomy.

PURPOSE: To evaluate the effect of hydronephrosis on operation success and the development of complications in supine percutaneous nephrolithotomy (PCNL). METHODS: A total 259 patients were included in the study who underwent supine PCNL in our clinic between September 2019 and November 2023. The patients were divided into four groups: normal, mild, moderate and severe, according to their preoperative hydronephrosis degrees. Demographic data, kidney stone characteristics, clinical aspects, surgical findings, and postoperative complications were compared across groups. RESULTS: In terms of American Society of Anesthesiologists score, stone-free rate, operation time, fluoroscopy time, and Clavien-Dindo classification grades, a statistically significant difference was found between the hydronephrosis groups. The stone-free rate in the normal, mild, moderate, and severe groups was 86.6, 82.5, 76.0, and 61.5, respectively. The severe hydronephrosis group varied statistically substantially from the other hydronephrosis groups in terms of stone-free rate, according to the post-hoc analysis. In terms of Clavien-Dindo classification grades, the severe hydronephrosis group varied statistically significantly from the normal and mild hydronephrosis groups (p values 0.04, 0.02, respectively). In terms of Clavien-Dindo classification grades, no statistically significant difference was seen between the severe and moderate hydronephrosis groups (p = 0.085). CONCLUSION: The findings of this study demonstrated that the existence of hydronephrosis was a predictive factor for the occurrence of complications and decreased the success rate of supine PCNL. Furthermore, univariate and multivariate analyses showed that the presence of hydronephrosis was a predictive factor for PCNL success and the development of complications.

Association of childhood asthma with Gasdermin B (GSDMB) and Oromucoid-like 3 (ORMDL3) genes.

OBJECTIVE: Genome-length association studies have shown that Gasdermin B (GSDMB) and Orosomucoid-like 3 (ORMDL3) genes located on the long arm of chromosome 17 are associated with asthma. In this study, it was aimed to determine the possible relationship between asthma control test (ACT), exercise provocation test (ECT), and fractional nitric oxide (FENO) levels and GSDMB and ORMDL3 gene expressions. METHODS: 59 asthmatic and 38 non-asthmatic children were included in the study. We divided the patient group into two subgroups as mild persistent asthma (29 patients) and moderate persistent asthma (30 patients). ORMDL3, GSDMB gene expression levels, ECT, total IgE levels, and eosinophil counts were measured in all cases. In addition, ACT and FeNO levels were measured in children with asthma. Afterward, the relationship of ORMDL3 and GSDMB gene expression coefficient changes with ECT, ACT, and FeNO was examined. RESULTS: When patients with ACT ≤15 were compared with patients with ACT ≥20, ORMDL3 and GSDMB gene expressions were increased 6.74 and 11.74 times, respectively. Comparing patients with ACT ≥20 and ACT ≤15 in terms of coefficient changes (ΔCq), higher change values were observed for ΔCq ORMDL3 in patients with ACT ≤15 (p=0.015). Similarly, when patients with FENO ≤25 ppb were compared with patients with FENO >25 ppb, ORMDL3 and GSDMB gene expressions were increased by 2.93 and 3.56 times, respectively. When the coefficient changes were compared, no significant difference was found between FENO≤25 and FENO >25 patients. There was a slight negative correlation between ΔCq values and ACT score (p=0.003, r=-0.418 for ORMDL3, and p=0.016, r=-0.345 for GSDMB). In addition, we observed a statistically significant positive correlation between ORMDL3 and GSDMB gene expressions (r=0.80, p<0.001). CONCLUSION: We showed that increased ORMDL3 and GSDMB gene expression levels may be associated with ACT scores, FeNO and ECT in asthma. These findings may encourage future studies with larger numbers of subjects that can use gene expression levels in various asthma phenotypes for prognostic prediction.

Increased Severe Cases and New-Onset Type 1 Diabetes Among Children Presenting With Diabetic Ketoacidosis During First Year of COVID-19 Pandemic in Turkey.

Introduction: There have been some significant changes regarding healthcare utilization during the COVID-19 pandemic. Majority of the reports about the impact of the COVID-19 pandemic on diabetes care are from the first wave of the pandemic. We aim to evaluate the potential effects of the COVID-19 pandemic on the severity of diabetic ketoacidosis (DKA) and new onset Type 1 diabetes presenting with DKA, and also evaluate children with DKA and acute COVID-19 infection. Methods: This is a retrospective multi-center study among 997 children and adolescents with type 1 diabetes who were admitted with DKA to 27 pediatric intensive care units in Turkey between the first year of pandemic and pre-pandemic year. Results: The percentage of children with new-onset Type 1 diabetes presenting with DKA was higher during the COVID-19 pandemic (p < 0.0001). The incidence of severe DKA was also higher during the COVID-19 pandemic (p < 0.0001) and also higher among children with new onset Type 1 diabetes (p < 0.0001). HbA1c levels, duration of insulin infusion, and length of PICU stay were significantly higher/longer during the pandemic period. Eleven patients tested positive for SARS-CoV-2, eight were positive for new onset Type 1 diabetes, and nine tested positive for severe DKA at admission. Discussion: The frequency of new onset of Type 1 diabetes and severe cases among children with DKA during the first year of the COVID-19 pandemic. Furthermore, the cause of the increased severe presentation might be related to restrictions related to the pandemic; however, need to evaluate the potential effects of SARS-CoV-2 on the increased percentage of new onset Type 1 diabetes.

Effects of severe hydronephrosis on the outcomes of percutaneous nephrolithotomy with one-shot dilation method.

OBJECTIVE: To investigate the effect of the presence of severe hydronephrosis on percutaneous nephrolithotomy (PNL) outcome in patients who underwent PNL operation with one-shot dilatation technique. MATERIALS AND METHODS: Medical data of 989 patients underwent PNL operation in our clinic between 2012 and 2018 were retrospectively reviewed. We included 373 of the patients underwent PNL operation due to renal pelvic stone, who were older than 18 years of age, who did not have any urinary tract abnormality, and had no previous history of open renal stone operation. Patients were divided into two groups according to the presence of severe hydronephrosis and absence of hydronephrosis. These two groups were compared in terms of age, gender, body mass index (BMI), number of stones, stone burden, operation duration, fluoroscopy time, hospitalization time, hemoglobin and creatinine change, complications, and stone free rate. RESULTS: There was no statistically significant difference between the groups in terms of age, gender, BMI, stone number, stone size, stone density, operation duration, fluoroscopy time, and hospitalization duration. The mean change in hemoglobin was 1.5 g/dL in group 1 and 1.1 g/dL in group 2. This difference was statistically significant (p = 0.006). Postoperative blood transfusion was required for 3 patients (2.1%) in group 1 and 12 patients (5.1%) in group 2. This difference was statistically significant (p < 0.001). CONCLUSION: Only the presence of severe hydronephrosis was found to be associated with the change in hemoglobin and postoperative blood transfusion.

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.

An investigation of the effects of amniotic fluid on experimental ischemia/reperfusion damage in rat testes.

INTRODUCTION: Various agents have been tested as preventive treatments for ischemia/reperfusion (IR) damage. In this study, we have investigated for the first time in the literature the efficacy of injection of amniomax (AMX) into testicular parenchyma, which is a commercial medium of rat amniotic fluid, in preventing testicular IR damage related to testicular torsion. OBJECTIVE: This study aims to evaluate whether or not amniomax has an effect on experimental IR damage in rat testes using biochemical and histopathological methods based on data in the literature. Even if testicular torsion is repaired surgically in early term injury because of de IR damage still occurs. Is it possible to reduce the ischemia reperfusion injury with amniotic fluid and increase the success of treatment? STUDY DESIGN: 40 male Wistar albino rats were included. Four groups were formed with 10 rats in each group: Sham, Ischemia/Reperfusion (IR), injection 1 min before detorsion (AMX-BD), injection 1 min after detorsion (AMX-AD). Total Oxidant Status (TOS) and Oxidative Stress Index (OSI) were computed for oxidative stress, and Total Antioxidant Status (TAS) levels were computed for the antioxidant system, for both serum and tissue. Necrosis and microcalcification levels were assessed in the evaluation of testicular histology. P < 0.05 was considered statistically significant. RESULTS: AMX-AD group has low necrosis degree than IR, Mean serum and tissue levels of TAS, TOS, and OSI parameters were respectively determined as; for TAS: 0.64 ± 0.11 and 0.96 ± 0.25 mmol Trolox Equivalent/L; for TOS: 6.71 ± 0.87 and 9.40 ± 1.03 µmol H2O2 equivalent/L; for OSI: 11.94 ± 3.74 and 10.70 ± 4.23 arbitrary unit. DISCUSSION: Our study has investigated for the first time in the literature the efficacy of amniotic fluid in preventing testicular IR damage, and used amniomax (AMX) for this purpose. The limitation of our study may be the small number of rat in the groups. CONCLUSION: We think an injection after detorsion is more favorable considering that the AMX-AD group demonstrated significantly lower levels of TOS in serum and tissue and OSI in serum, and significantly higher serum levels of TAS compared to the AMX-BD group, as well as the fact that the morphological protection effect was only observed for injections performed immediately after detorsion.

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11ß-Hydroxylase Deficiency.

BACKGROUND: Given the rarity of 11ß-hydroxylase deficiency (11ßOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11ßOHD) and nonclassic 11ßOHD (NC-11ßOHD). OBJECTIVE: To characterize a multicenter pediatric cohort with 11ßOHD. METHOD: The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. RESULTS: 102 patients (C-11ßOHD, n = 92; NC-11ßOHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score (SDS)] and male 160.4 cm (-2.56 SDS).None of the NC-11ßOHD girls had ambiguous genitalia (C-11ßOHD 100%), and none of the NC-11ßOHD patients were hypertensive (C-11ßOHD 50%). Compared to NC-11ßOHD, C-11ßOHD patients were diagnosed earlier (1.33 vs 6.9 years; P < 0.0001), had higher bone age-to-chronological age (P = 0.04) and lower adult height (-2.46 vs -1.32 SDS; P = 0.05). The concentrations of 11-oxygenated androgens and 21-deoxycortisol were low in all patients. The baseline ACTH and stimulated cortisol were normal in NC-11ßOHD. Baseline cortisol; cortisone; 11-deoxycortisol; 11-deoxycorticosterone and corticosterone concentrations; and 11-deoxycortisol/cortisol, 11-deoxycorticosterone/cortisol, and androstenedione/cortisol ratios were higher in C-11ßOHD than NC-11ßOHD patients (P < 0.05). The 11-deoxycortisol/cortisol ratio >2.2, <1.5, and <0.1 had 100% specificity to segregate C-11ßOHD, NC-11ßOHD, and control groups. CONCLUSION: NC-11ßOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11ßOHD.

Comparação de métodos de tratamento tópico utilizados na epistaxe anterior recorrente: ensaio clínico randomizado / Comparison of topical treatment methods used in recurrent anterior epistaxis: a randomized clinical trial

Resumo Introdução: A epistaxe recorrente é uma doença comumente vista por especialistas em otorrinolaringologia, médicos de emergência e pediatras. O fato de que muitas modalidades de tratamento estejam sendo pesquisadas e nenhum método único de tratamento seja universalmente aceito apoiam ainda mais essa informação. Objetivo: Comparar a eficácia clínica do uso de pomada antisséptica tópica, pomada descongestionante tópica e tratamentos de cauterização química, que são frequentemente usados em epistaxe anterior recorrente, tanto isoladamente como em combinação. Método: Entre agosto de 2017 e fevereiro de 2018, 137 pacientes diagnosticados com epistaxe anterior recorrente foram divididos aleatoriamente em 5 grupos. O grupo I foi tratado com pomada antisséptica tópica, o grupo II com pomada descongestionante tópica, o grupo III foi submetido a cauterização química, o grupo IV foi tratado com pomada antisséptica tópica + cauterização química e o grupo V com pomada descongestionante tópica + tratamento de cauterização química. Todos os pacientes foram contatados por telefone 2 semanas e um mês após o tratamento e perguntados sobre a presença (falha) ou ausência (sucesso) de pelo menos um episódio de epistaxe. Pacientes com comorbidades foram excluídos. O sucesso do tratamento foi analisado estatisticamente. Resultados: Não houve diferença significante (p > 0,05) entre os grupos em relação à taxa de sucesso no 15° dia após o tratamento. Os grupos IV e V tiveram maiores taxas de sucesso no 30° dia após o tratamento em comparação com os grupo I e II (p < 0,05). No grupo III, o sucesso do tratamento no 30° dia não foi diferente dos outros 4 grupos (p > 0,05). Conclusão: Embora o número de pacientes que melhoraram com a cauterização química (grupo III) tenha sido maior em nosso estudo, nenhuma diferença significante foi observada nas modalidades de tratamento único (grupos I - III) no 14° dia e no 30° dia após o tratamento. Embora não tenha sido observada diferença estatisticamente significante entre os tratamentos combinados (grupos IV - V) e os tratamentos simples (grupos I - III) na 2ª semana após o tratamento, os tratamentos combinados foram significantemente mais eficazes no 1° mês.

Relationship between testicular histopathology and the success of testicular sperm extraction in patients with non-mosaic Klinefelter syndrome / Relación entre la histopatología testicular y el éxito de la extracción de espermatozoides testiculares de pacientes con síndrome de Klinefelter sin mosaicismo

OBJECTIVE: To investigate the effect of testicular histopathology on the success of microscopic testicular sperm extraction (mTESE) and the factors that could predict the success of mTESE in patients with non-mosaic Klinefelter syndrome (KS). MATERIAL AND METHODS: Forty-one KS patients diagnosed with non-obstructive azoospermia (NOA) who had undergone mTESE at our clinic were included in the study. The patients were divided into 5 groups according to the histopathology results: hyalinisation of tubules (HT), sertoli cell only (SCO), early maturation arrest (EMA), late maturation arrest (LMA), and hypospermatogenesis (HS). The groups were compared with regard to age, duration of infertility, hormone profile, testicular volume, and sperm retriveal rate. The clinical features of the patients with mTESE from whom sperm could or could not be obtained were also compared with the aim of investigating the predictive value of testicular histopathology and the other variables for prediction of the success of mTESE. RESULTS: Sperm could be obtained through mTESE in 13 out of 41 patients (31.7%). A statistically significant difference was determined between the groups with regard to the rate of sperm collection. No significant difference was determined between the histopathology groups with regard to the other variables. A statistically significant difference was determined between the groups from whic sperm could be collected or not with regard to age, Johnsen criteria, SCO, EMA and LMA variables. Multi-variate analysis revealed that age and Johnsen score were the independent variables predictive for success of mTESE. CONCLUSION: The present study has revealed that impairment in testicular histopathology negatively affects the success of mTESE and that it is a predictive factor for the success of mTESE in patients with KS. Increased patient age was also determined to negatively affect the success of mTESE and the operation was demonstrated to be more successful before 34 years of age

OBJETIVO: Estudiar el efecto de la histopatología testicular en el éxito de la extracción microscópica de espermatozoides testiculares (EETm) y los factores que podrían pronosticar el éxito de la EETm en pacientes con síndrome de Klinefelter (SK) sin mosaicismo. MATERIAL Y MÉTODOS: En el estudio se incluyó a 41 pacientes con SK diagnosticados de azoospermia no obstructiva (ANO) a quienes se les había realizado la EETm en nuestra clínica. Se dividió a los pacientes en 5 grupos, de acuerdo con los resultados de la histopatología: hialinización de túbulos (HT), células de Sertoli solamente (SCS), detención de la maduración temprana (DMT), detención de la maduración tardía (DMTa) e hipoespermatogénesis (HS). En los grupos se compararon la edad, la duración de la infertilidad, el perfil hormonal, el volumen testicular y la tasa de recuperación de esperma. También se compararon las características clínicas de los pacientes con EETm de los que se pudo obtener esperma o no con el objetivo de estudiar el valor pronóstico de la histopatología testicular y otras variables para pronosticar el éxito de la EETm. RESULTADOS: Se pudo obtener esperma a través de la EETm de 13 de 41 pacientes (31,7%). Se estableció una diferencia estadísticamente importante entre los grupos respecto a la tasa de recolección de esperma. No se estableció ninguna diferencia importante entre los grupos de histopatología respecto a las otras variables. Se estableció una diferencia estadísticamente importante entre los grupos de los cuales se pudo recolectar esperma o no respecto a la edad, a los criterios de Johnsen, SCS, DMT y DMTa. El análisis multivariante reveló que la edad y la puntuación de Johnsen fueron las variables independientes pronósticas del éxito de la EETm. CONCLUSIÓN: El presente estudio ha revelado que el deterioro de la histopatología testicular afecta negativamente al éxito de la EETm, y que es un factor pronóstico para el éxito de la EETm en pacientes con SK. También se estableció que el aumento de la edad del paciente afectaba negativamente al éxito de la EETm, y se demostró que la operación tenía más éxito cuando se realizaba antes de los 34 años

Comparison of topical treatment methods used in recurrent anterior epistaxis: a randomized clinical trial.

INTRODUCTION: Recurrent epistaxis is a common medical problem faced by ENT specialists, emergency physicians, and pediatricians. The facts that many treatment modalities are being searched and no single treatment method is universally accepted yet support this information. OBJECTIVE: We aimed to compare the clinical efficacy of topical antiseptic ointment, topical decongestant ointment and chemical cauterization treatments, which are frequently used in recurrent anterior epistaxis, both singly and in combination. MATERIAL-METHODS: Between August 2017 and February 2018, 137 patients who were diagnosed with recurrent anterior epistaxis were randomly divided into 5 groups. group I received topical antiseptic ointment, group II received topical decongestant ointment, group III received chemical cauterization, group IV received topical antiseptic ointment + chemical cauterization and group V received topical decongestant ointment + chemical cauterization treatment. All patients were phoned 2 weeks and 1 month after the treatment and questioned about the presence (failure) or absence (success) of at least 1 episode of epistaxis. Patients with comorbid diseases were excluded. Treatment success was statistically analysed. RESULTS: There was no significant difference (p > 0.05) between the groups in the success rate at 15th day after treatment. Group IV and group V had higher success rates at 30th day after treatment compared with group I and group II (p < 0.05). In group III 30th day treatment success was not different from the other 4 groups (p > 0.05). CONCLUSION: Although the number of patients who improved with chemical cauterization (group III) was higher in our study, no significant difference was observed in single treatment modalities (group I‒III) at 14th day and 30th day after treatment. Although no statistically significant difference was observed between combined treatments (group IVV) and single treatments (group I‒III) in the 2nd week after treatment, combined treatments were significantly more effective in the 1st month.

Relationship between testicular histopathology and the success of testicular sperm extraction in patients with non-mosaic Klinefelter syndrome.

OBJECTIVE: To investigate the effect of testicular histopathology on the success of microscopic testicular sperm extraction (mTESE) and the factors that could predict the success of mTESE in patients with non-mosaic Klinefelter syndrome (KS). MATERIAL AND METHODS: Forty-one KS patients diagnosed with non-obstructive azoospermia (NOA) who had undergone mTESE at our clinic were included in the study. The patients were divided into 5 groups according to the histopathology results: hyalinisation of tubules (HT), sertoli cell only (SCO), early maturation arrest (EMA), late maturation arrest (LMA), and hypospermatogenesis (HS). The groups were compared with regard to age, duration of infertility, hormone profile, testicular volume, and sperm retriveal rate. The clinical features of the patients with mTESE from whom sperm could or could not be obtained were also compared with the aim of investigating the predictive value of testicular histopathology and the other variables for prediction of the success of mTESE. RESULTS: Sperm could be obtained through mTESE in 13 out of 41 patients (31.7%). A statistically significant difference was determined between the groups with regard to the rate of sperm collection. No significant difference was determined between the histopathology groups with regard to the other variables. A statistically significant difference was determined between the groups from whic sperm could be collected or not with regard to age, Johnsen criteria, SCO, EMA and LMA variables. Multi-variate analysis revealed that age and Johnsen score were the independent variables predictive for success of mTESE. CONCLUSION: The present study has revealed that impairment in testicular histopathology negatively affects the success of mTESE and that it is a predictive factor for the success of mTESE in patients with KS. Increased patient age was also determined to negatively affect the success of mTESE and the operation was demonstrated to be more successful before 34 years of age.

Vaginocutaneous fistula: A rare long-term complication of transobturator tape procedure for stress urinary incontinence.

INTRODUCTION: Synthetic mid-urethral slings are currently the most common performed surgical procedure for the treatment of female stress urinary incontinence. The transobturator mid-urethral sling technique has been widely accepted owing to its high success and low complication rates. Although complications are rarely seen, it may cause significant morbidity. CASE PRESENTATION: We report a case of vaginocutaneous fistula following transobturator mid-urethral sling procedure and a successful reconstruction with transvaginal sling excision and fistula closure. CONCLUSION: Vaginocutaneous fistula is a known but rarely seen long-term complication of transobturator tape. With an increased use of mesh, various delayed complications can be seen in the long-term follow-up. This case showed us the need for longer and detailed studies that evaluate the effectiveness and safety of the transobturator tape procedure.

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.

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.

Comparison of penile prosthesis types' complications: A retrospective analysis of single center.

OBJECTIVES: The aim of this study was to compare clinical outcomes and complication rates associated with semirigid (malleable) and inflatable penile prostheses (PPs) and investigate the factors that influence these complications. MATERIAL AND METHODS: The records of 131 patients who had undergone penile prosthesis implantation (PPI) in our clinic due to erectile dysfunction (ED) between January 2010 and March 2019 were retrospectively reviewed. The initial surgery included 116 primary implants and 15 men had two revision operations. Patients were assigned to two groups as semirigid (malleable) PPI (group 1) and inflatable PPI (group 2) patients, and obtained data were compared across these two groups. RESULTS: Group 1 included 93 patients, while Group 2 included 38 patients. Postoperative complication rates of Group 1 were 8.6% (n = 8), and Group 2 were 21% (n = 8), and the comparison of postoperative complication rates revealed a statistically significant difference between the two groups (p = 0.025). The majority of these complications (50%) was constituted by mechanical failure associated with inflatable PPs. When patients were further segregated as those with and without diabetes type 2 (DM) and those who had and had not undergone radical pelvic surgery (RPS), the comparison of complication rates across these subgroups did not yield any significant difference. CONCLUSIONS: We determined in this study that semirigid (malleable) PPs were associated with lower complication rates compared to the inflatable group, particularly with regard to mechanic failure, and that DM and history of RPS did not make a difference in complication rates in patients planned to undergo PPI.

Topography of the lesion in idiopathic sudden sensorineural hearing loss.

INTRODUCTION: Etiology of ISSNHL includes cessation of vascular perfusion, viral infection and cochlear membrane injury. Precise location of injury should be defined for a target-oriented treatment. Vestibular complaints in ISSNHL are hypothesized as involvement of vestibule. Vestibular complaints can be either due to involvement of inner ear or neural tract at any level. OBJECTIVES: In the present study we aimed to demonstrate involvement of vestibular organs in the absence of vestibular symptoms. It was aimed to evaluate superior and inferior vestibular neural pathways. METHODS: c-vemp and o-vemp were applied to patients suffering ISSNHL without vertigo. Pure tone averages, audiogram configurations, degree of hearing loss were analyzed. Latencies of P1 and N1 waves, amplitudes of P1-N1 waves were evaluated. Asymmetrical vemp wave patterns were compared between two ears regarding difference of PTA. RESULTS: Latencies of c-vemp waves were longer and amplitudes were smaller. o-vemp parameters were similar on both sides. Positive correlation was observed between c-vemp latencies and degree hearing loss. CONCLUSION: Inferior vestibular nerve pathway is affected in the absence of vertigo in ISSNHL with spared superior vestibular nerve pathway. Damage in IVN pathway correlates with degree of ISSNHL.

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.

Comparison of uroflowmetry tests performed with a sensation of normal desire to void versus urgency and correlation of test results with IPSS.

OBJECTIVE: The objective of this study was to evaluate the uroflowmetry test results performed for normal and urgent desire to void and their correlation with International Prostate Symptom Score (IPSS) values in adult male patients having lower urinary tract symptoms (LUTS) complaints. MATERIAL AND METHODS: In this prospective study, a total of 83 patients were included. With a normal desire to void, maximum flowrate (Qmax)-normal, average flowrate (Qaverage)-normal, and void volume (VV)-normal values were obtained. Residual urine volume was examined by suprapubic ultrasound within 5 minutes following uroflowmetry, and calculated. The maximum bladder volume (MBV)-normal value was calculated by adding the residual-normal volume and VV-normal values. The same procedures were repeated the next day with the sensation of urgency, Qmax-urgency, Qaverage-urgency, VV-urgency, residue-urgency, MBV-urgency values were obtained. RESULTS: Statistically significant difference was determined for all parameters, and higher values were obtained in the urgency group for all parameters (p<0.05). A correlation analysis was performed for the Qmax-normal and Qmax-urgency values and the IPSS. Both parameters were not statistically significantly correlated with IPSS, but the correlation coefficient of Qmax-urgency was found to be higher than Qmax-normal (p=0.85, Correlation Coefficient=-0.022 for Qmax-normal and IPSS; and p=0.069, Correlation Coefficient=-0.214 for Qmax-urgency and IPSS, respectively). CONCLUSION: Our study is the first study examining the effect of bladder sensitivity on uroflowmetry parameters in male patients having LUTS. More reliable results might be obtained in adult male patients with LUTS complaints when the uroflowmetry test is performed with a feeling of urgency to void. Our results need to be supported by more objective criteria, rather than subjective criteria such as IPSS.