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Background: Lilium candidum L. is a perennial ornamental plant that has various medicinal properties and is used in the cosmetic industry. The species is facing threats from urbanization and climate change and requires urgent protection. The most secure and efficient technology for the long-term storage of plant genetic resources is cryopreservation, which involves preserving genetic material at extremely low temperatures., Objective: Today, plant biodiversity is endangered because of the narrowing of its natural distribution areas and/or destruction for different purposes. This study concentrated on creating a cryopreservation process using shoot tips and calluses as explant sources for the long-term conservation of L. candidum species., Materials and Methods: Populations of L. candidum naturally distributed from three different regions of Turkey (Kepsut, Balikesir; the area surrounding Bafa Lake, Aydin; and Fethiye-Mugla) were grown in vitro to supply shoot tip and callus explants. Prior to freezing by droplet-vitrification and vitrification techniques, shoot tips and calluses were treated with MS nutritional medium supplemented with 0.4 M sucrose 7 g per L agar and plant vitrification solution 2 (PVS2)., Results: Cryopreserved shoot tips showed the highest levels of regeneration (71.8%) after a PVS2 treatment of 90 min, while calluses showed the highest levels of regrowth (63.9%) after a PVS2 exposure of 60 min., Conclusion: High levels of regrowth are produced when the various cryopreservation procedures described here are used to preserve both shoot tip and callus explants. This potentially makes the method promising for the long-term preservation of endangered L. candidum varieties. Doi.org/10.54680/fr23510110512.

Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients., Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye. The demographic characteristics of the patients, symptoms associated with thrombosis, the stage of the leukemia treatment during thrombosis, the anticoagulant therapy applied for thrombosis, and the final status of the patients recorded through electronic medical records were determined., Results: Data from 70 patients with CNS thrombosis during treatment, out of 3968 pediatric patients with ALL, were reviewed. The incidence of CNS thrombosis was 1.8% (venous: 1.5 %; arterial: 0.03%). Among patients with CNS thrombosis, 47 had the event in the first 2 months. Low molecular weight heparin (LMWH) was the most commonly used treatment with a median of 6 months (min-max: 3-28 months). No treatment-related complications occurred. Chronic thrombosis findings occurred in four patients (6%). In five (7%) patients who developed cerebral vein thrombosis, neurological sequelae (epilepsy and neurological deficit) remained. One patient died related to thrombosis, and the mortality rate was 1.4%., Conclusion: Cerebral venous thrombosis and, less frequently, cerebral arterial thrombosis may develop in patients with ALL. The incidence of CNS thrombosis is higher during induction therapy than during other courses of treatment. Therefore, patients receiving induction therapy should be monitored carefully for clinical findings suggestive of CNS thrombosis., (© 2023 Wiley Periodicals LLC.)

Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs. The mean age at diagnosis was 5.80 ± 4.90 months, and the delay was 3.29 ± 3.99 months. The most common complaint and physical examination findings were cough (29.05%), eczematous rash (63%) and organomegaly (61%). ADA (17%), Artemis (14%), RAG1/2 (15%), MHC Class II (12%) and IL-2R (12%) deficiencies were the most common genetic defects. Lymphopenia (87.5%) was the most frequent abnormal laboratory finding and below 3000/mm 3 in 95% of the patients. The CD3 + T cell count was 300/mm 3 and below in 83% of the patients. As a result, a combination of low lymphocyte count and CD3 lymphopenia for SCID diagnosis would be more reliable for countries with high rate of consanguineous marriage. Physicians should consider diagnosis of SCID in a patient presenting with severe infections and lymphocyte counts below 3000/mm 3 under 2 years of age., (© 2023 John Wiley & Sons Ltd.)

Purpose: To describe a case of traumatic hyphema in a patient with severe hemophilia A., Case: We present a case of a 16-year-old boy with severe hemophilia A who presented to our ophthalmology department with total hyphema and elevated intraocular pressure 3 days after a history of blunt ocular trauma on his right eye. Due to the persistent intraocular pressure elevation and total hyphema despite medical intervention, an early anterior chamber washout was performed with the replacement of factor VIII preoperatively and postoperatively. Re-bleeding or any other complications were not experienced during surgery or postoperatively. At the first postoperative week, 20/20 visual acuity and a normal intraocular pressure without antiglaucoma medication was retained and remained stable during the 6-month follow-up., Conclusion: In such cases with hemophilia A, traumatic hyphema, and intraocular pressure elevation despite medical intervention, an early surgical clot removal under intense factor VIII replacement could be performed. In the early postoperative period, factor replacement should be resumed in order to avoid re-bleeding.

In this study, the clinical and laboratory findings, management and follow-up of 32 children with paediatric systemic lupus erythematosus (pSLE) were evaluated to determine the prognostic factors in pSLE. Of the 32 patients, 25 (78.1%) were females. Age at onset of symptoms and diagnosis in the patients were 147.6 ± 49 months and 154.3 ± 48 months, respectively. The most common symptom on admission were joint problems, seen in 25 (78.1%) patients. Haematological alterations were seen in 25 (78.1%) cases during follow-up. Lupus nephritis was diagnosed in 10 (31.2%) patients. Malar rash was seen in a total of 12 (37.5%) patients during follow up, however it had been noted in five (15.6%) patients on admission. Antinuclear antibody and anti-dsDNA were positive in all patients and 31 (96.8%) patients, respectively. Decreased complement 3 and 4 levels were noted in 23 (71.8%) patients. Antiphospholipid antibody was studied in 27 patients and it was found to be positive in 13 (48.1%) patients. In conclusion, based on our findings, we would like to emphasize that pSLE has a large and remarkable clinical and laboratory findings.

The objective of the study was to investigate the effect of the menstrual cycle and menopause on extracorporeal shock wave lithotripsy (ESWL)-related pain outcome. Since March 2017, we evaluated a total of 145 women who underwent the first session of ESWL for renal or ureteral stones. Patients were divided into two groups, as menstruating and menopaused women. For menstruating women, the number of days between the last day of mens and ESWL was noted and women were separated as in the follicular phase (1-14 days) or in the luteal phase (15-30 days) of menstruation. To control these two female groups, 149 men of similar age were included in the study. After the procedure, the experienced pain was recorded on a ten-point visual analog scale (VAS) by the patient and they also rated the severity of pain as no, mild, tolerable, and intolerable on the pain questionnaire. The mean age of the patients was 43 ± 15 years for the female group and 42 ± 13 years for the male group. While stone burden was not different between the female and male groups (p = 0.459), VAS score was not statistically different between genders (p = 0.293). However, men reported a higher rate of mild pain, while women reported a higher rate of tolerable pain (p = 0.008) in the pain questionnaire. Mean VAS score was significantly lower for the menopaused women group than menstruating women, young and old men (p = 0.001). In a subgroup analysis, menopaused women group reported lower VAS score and better pain questionnaire result than menstruating women (p < 0.001). There was no statistically significant difference between the follicular and luteal phase of the menstrual cycle in terms of mean VAS score and pain questionnaire results (p = 0.891 and 0.441, respectively). When compared with the young men group, the only significant difference was pain questionnaire results between women in the luteal phase (p = 0.014). Multiple regression analysis showed that only menstruation (β = 0.639, p < 0.001) was an independent factor for VAS score. Menstrual cycle phase had no effect on pain perception during the ESWL session and menopaused women felt less pain than menstruating women during this procedure. The control male group showed that the reduction of ESWL-related pain in menopause was not related to aging.

Introduction: Glanzmann thrombasthenia is a rare congenital platelet dysfunction., Case Characteristics: A 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations., Outcome: General precautions to avoid injuries and spontaneous bleeding were advised., Message: Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors.

Purpose: To assess the oncologic results of our robot-assisted laparoscopic prostatectomy (RALP) cases and investigate whether the learning curve (LC) affects the oncological outcomes.  Materials and Methods: Between March 2015 and September 2017, 111 patients underwent RALP by a single surgeon in our clinic. The learning curve was analyzed using the moving average method. We compared the rate of positive surgical margins(PSM) and oncological outcomes, operation times, hematocrit changes and duration of hospitalization among the patients during and after the LC. Complications were also noted according to Clavien system., Results: LC analysis using the moving average method showed that the LC stabilized between cases 51-60. So, patients were classified into two groups; 1-50 cases (Group 1) and 51-111 cases (Group 2). PSM rates were 36% for group 1 and 18% for group 2, and statistically different (p=0,032). Extracapsular invasion (ECI) was significantly higher in group 1 (56,5%) than in group 2 (29,5%) (p=0,005). Multiple logistic regression analysis revealed that presence of ECI was an independent factor for PSM associated with the groups (OR: 2.512; 95% CI: 1.055-5.979). Both operation time and duration of postoperative hospitalization were significantly reduced from group 1 to group 2. A total of 11 patients (10%) had complications and one of them (0,9%) required surgical intervention., Conclusion: We can conclude that at least 50 RALP cases are needed to gain proficiency even for an experienced surgeon in laparoscopic radical prostatectomy. Our study demonstrates that surgeons experience can affect the perioperative variables but the LC does not affect PSM status in RALP.

Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. The latter has been linked to the degree of HLH susceptibility. Since the discrepancies in NK cell- and T cell-mediated cellular cytotoxicity might result from differences in regulation of cytotoxic granule release, we here evaluated perforin-containing secretory lysosome size and number in freshly isolated lymphocytes from CHS patients and furthermore compared their exocytic capacities. Whereas NK cells from CHS patients generally contained a single, gigantic perforin-containing granule, cytotoxic T cells predominantly contained several smaller granules. Nonetheless, in a cohort of 21 CHS patients, cytotoxic T cell and NK cell granule exocytosis were similarly impaired upon activating receptor stimulation. Mechanistically, polarization of cytotoxic granules was defective in cytotoxic lymphocytes from CHS patients, with EEA1, a marker of early endosomes, mislocalizing to lysosomal structures. The results leads to the conclusion that lysosome enlargement corresponds to loss of distinct organelle identity in the endocytic pathway, which on a subcellular level more adversely affects NK cells than T cells. Hence, vesicular size or numbers do not per se dictate the impairment of lysosomal exocytosis in the two cell types studied.

Purpose: To determine the prevalence and the pattern of ocular involvement in children with leukemia at the time of diagnosis., Methods: The data of patients with leukemia who underwent complete ophthalmic examination at the time of diagnosis between January 2005 and December 2014 were retrospectively reviewed. Demographic data, type of leukemia, ocular findings, blood parameters, and duration of follow-up were analyzed., Results: A total of 185 patients (111 male and 74 female) were included in the study, with a median age of 6.0 years (range 0.5-18.0 years) and a median follow-up time of 36.0 months (range 0.5-108.0 months). Ocular signs were present in 24.3% of the patients at the time of diagnosis and 37.8% of them were symptomatic. The prevalence of ocular involvement was 20.4% in patients with acute lymphocytic leukemia (ALL) and 36.4% in patients with acute myelocytic leukemia (AML) (p = 0.051). Fatality rate was significantly higher in subjects with AML compared with ALL (p = 0.019), but was not significantly different between patients with and without ocular involvement (p = 0.166). There were no significant differences in hemoglobin levels, white blood cell counts, or platelet counts between patients with ALL and AML. Platelet counts were significantly lower in patients with ocular signs compared with subjects without ocular involvement (p = 0.012), while hemoglobin levels and white blood cell counts did not differ significantly., Conclusions: Various ocular signs may be present at the time of diagnosis in childhood leukemia, even in patients without any symptoms. Routine ophthalmic examination should be performed in recently diagnosed children with leukemia.

Purpose: Few studies have investigated the efficacy of silodosin, a recently introduced selective alpha 1-A adrenoceptor antagonist, in medical expulsive therapy (MET) for ureteral calculi. The results of these studies, which all evaluated the efficacy of 8 mg/day, indicate that silodosin is a potential treatment for ureteral calculi. This study investigated the efficacy of 4 mg/day of silodosin for MET of distal ureteral stones 4 to 10 mm in diameter., Material and Method: After 70 patients had been randomized into 2 groups of 35 patients each, both the control and experimental groups (groups 1 and 2, respectively) were advised to take 75 mg/day of diclofenacsodiumas needed for pain relief but only the experimental group to take 4 mg/day of silodosin. After 21 days, the groups were compared regarding the stone expulsion rate and duration, number of renalcolicepisodes, and analgesicdosage., Results: The median expulsion rates were 71.4% and 91.4% in groups 1 and 2, respectively, and the difference between them was significant (P=0.031). The median expulsion durations were 12.91±6.14 and 8.03±4.99 days, respectively, and the difference between them was significant (P<0.001). No significant differences were found regarding the median number of renal colic episodes or median analgesic dosage. While no patients in group 1 experienced side effects, 5 patients (14%) in group 2 experienced retrograde ejaculation., Conclusion: These results indicate that 4 mg/day of silodos in facilitates the expulsion of distal ureteral stones 4 to 10 mm in diameter but does not significantly reduce the number of renal colic episodes or analgesic dosage.

Ischemia-reperfusion injury can cause renal damage, and phosphodiesterase inhibitors are reported to regulate antioxidant activity. We investigated the prevention of renal damage using tadalafil after renal ischemia reperfusion (I/R) injury in rats. A total of 21 adult male Wistar albino rats were randomly divided into three groups of seven, including Group 1-control, Group 2-I/R, and Group 3-tadalafil + I/R group (I/R-T group) received tadalafil intraperitoneally at 30 minutes before ischemia. Inducible nitric oxide synthase, endothelial nitric oxide synthase, malondialdehyde, and total antioxidant capacity levels were evaluated, and histopathological changes and apoptosis in the groups were examined. Tadalafil decreased malondialdehyde levels in the I/R group and increased the total antioxidant capacity level. Histopathological and immunohistochemical findings revealed that tadalafil decreased renal injury scores and the ratios of injured cells, as measured through apoptotic protease activating factor 1, inducible nitric oxide synthase, and endothelial nitric oxide synthase levels. We suggest that tadalafil has protective effects against I/R-related renal tissue injury., (Copyright © 2015. Published by Elsevier Taiwan.)

Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd-Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.

Glanzmann's thrombasthenia (GT) is an inherited disorder of platelet aggregation, characterized by qualitative and quantitative defect on platelet αIIbβ3 integrin (GpIIb/IIIa), resulting in lifelong bleeding tendency due to defective platelet plug formation. The αIIb gene (ITGA2B) and β3 gene (ITGB3) are closely located at chromosome 17q21.31-32. ITGA2B consist of 30 exons and encoding α chain, whereas ITGB3 has 15 exons and encoding β chain. Until now, according to the Human Gene Mutation Database (HGMD), 138 mutations at ITGA2B gene and 101 mutations at ITGB3 gene have been identified. We aimed to determine whether there was any mutation in the ITGA2B and ITGB3 genes, and a correlation between clinical phenotype and genotype in Turkish GT patients. We examined 20 patients with GT followed at the Department of Pediatric Hematology, Meram Faculty of Medicine, for Clinical and Laboratory Findings and Molecular Genetic Analysis. Peripheral blood was collected from patients, and a written informed consent for genetic analysis was obtained from parents. DNA was isolated from by proteinase K and phenol/chloroform extraction. ITGA2B and ITGB3 genes were screened by polymerase chain reaction. There were 12 females and 8 males with a median age of 15.25 years. Major clinical presentations of these patients were mucocutaneous bleedings. The most common bleeding type was epistaxis (85%). Life-threatening bleedings were seen in five patients. Seven (35%) patients showed various mutations in the ITGA2B or ITGB3 genes. We detected four novel mutations in three different regions and two mutations defined previously within the ITGA2B gene. These changes are at exon 4; c.570 T > G alteration, at exon 13 c.1277 T > A, c.1291 T > G alterations, at exon 19 c.1921A > G alterations. And from the start point of exon 14, behind 107 bases, we detected a heterozygous alteration at Thymine to Guanine. According to PolyPhen Database Program and NCBI Multiple Alignment Tool Database, four transitions are conserved at evolutionary process, so we can say that these transitions are novel mutations. c. 468T > G alteration at exon 4 and c. 1378 T > A alteration at exon 13 were reported to HGMD previously. Screening the exons of the ITGB3 gene from the same patient groups, we reported a novel missense mutation at exon 5, at nucleotide 680. No correlation was found between clinical phenotype and genotype. These mutations were described for the first time in Turkish population, and all novel mutations are not defined previously. Furthermore, collaborative studies are needed for the population point of view.

We investigated an optimal cutoff level of free/total PSA ratios (f/t PSA) in predicting prostate cancer in different age groups, focusing on the avoidance of unnecessary prostate biopsies. A total of 4955 men were enrolled into the study. Serum tPSA, fPSA, and f/t PSA ratios were determined for the study population. All males who had suspicious digital rectal examination and tPSA > 4 ng/mL underwent transrectal ultrasonography-guided prostate biopsy. Receiver operating characteristic (ROC) curves for each group were generated by plotting the sensitivity versus 1-specificity for the f/t PSA ratio. The sensitivity, specificity, positive likelihood ratio (PLR), and negative likelihood ratio (NLR) were obtained using various f/t PSA ratio cutoffs for different age groups. There were 657 patients with a PSA level of 4-10 ng/mL. According to sensitivity and specificity f/t% PSA cutoff points were determined to be 10%, 15%, 15%, and 10% in 50-59 years, 60-69 years, >70 years, and all ages categories, respectively, in patients with initial PSA level of 4-10 ng/mL. f/t PSA ratio had an area under the curve (AUC) value of 0.81 (95% confidence level: 0.80-0.82) for all age groups in detecting prostate cancer. f/t PSA ratio has an AUC value of 0.669 (0.632-0.705) in detecting prostate cancer among patients with a PSA level of 4-10 ng/mL. Ten percent of f/t PSA ratio had the highest specificity with PLR and 30% f/t PSA ratio had the highest sensitivity with lower NLR in the all-age categories. The current study shows that the use of f/t PSA ratio in patients with PSA levels of 4-10 ng/mL should enhance the specificity of PSA screening and decrease the number of unnecessary biopsies. The age-related changes warrant further investigation in a large, multicentric, and multinational population to improve the clinical use of f/t PSA cutoffs., (Copyright © 2014. Published by Elsevier Taiwan.)

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management., (© 2014 WILEY PERIODICALS, INC.)

Objectives: Our aim was to evaluate the effect of clinical varicocele on testicular microcirculation measured by spectral Doppler analysis and investigate the correlation between Doppler ultrasonographic findings and semen parameters., Methods: Fifty patients who received a diagnosis of clinical varicocele in the Urology Department of our university hospital were enrolled in this prospective study. Varicocele grades were determined according to sonographic parameters, and a scrotal vein with a diameter of 2.5 mm or greater on color Doppler ultrasonography was included in the study. Spectral Doppler measurements of testicular arteries (peak systolic [PSV]/end-diastolic velocity [EDV], resistivity index [RI], pulsatility index [PI]) were measured from capsular and intratesticular branches of testicular arteries. All the patients were also assessed by semen analysis., Results: Mean age was 29.08 ± 5.42 years (range, 18-45 years). Among the whole study population, 22 men had isolated left varicocele, and 28 had bilateral varicoceles. No statistically significant correlation was found between the Doppler parameters: RI, PI, and EDV, and semen analysis parameters: count, motility, volume, and morphology. On the other hand, both in unilateral and bilateral varicocele cases, PSV was found to be significantly correlated with sperm count (P < 0.05)., Conclusions: Spectral Doppler analysis can provide valuable information as a noninvasive method to assess the hemodynamic changes and testicular microcirculation status in cases of clinical varicocele. However, RI, PI, and EDV values of capsular and intraparenchymal branches of testicular arteries may not be used as indicators of semen parameter deterioration. Hopefully, PSV measurement may give more conclusive data to predict sperm count. In addition, the cutoff value for this index has to be determined for future studies.

Background: Although splenic abnormalities are common in patients with lupus, spontaneous rupture of spleen is extremely rare., Observations: A 15-year-old boy with new-onset Evans syndrome subsequently diagnosed as systemic lupus erythematosus developed spontaneous rupture of spleen during the course of his illness. Despite the severe thrombocytopenia, he was managed conservatively with gradual regression of hematoma without further complication., Conclusions: Splenic rupture may occur spontaneously in the course of systemic lupus erythematosus. We conclude that conservative treatment of splenic rupture may be preferred especially in immunocompromised patients to avoid surgical complications.

Background: CD3 chain expression defects including CD3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies (SCID). The phenotype is usually T-B+NK+ SCID with lymphopenia where the clinical findings may be mild (CD3γ) or severe (CD3δ, ε, ζ) owing to the underlying molecular defect. There is limited information about the disease in literature., Methods: Here, we present two siblings from non-consanguineous family with autoimmunity including Evans syndrome, autoimmune hepatitis, nephrotic syndrome, and Hashimoto's thyroiditis and with no previous history of infections. To define the molecular basis of the disease, we performed linkage analysis around the CD3 receptor cluster and found consistent linkage to this region., Results: The patient one displayed low TCRαβ expression, low IgG, low IgA, low IgM, low CD3, low CD4, low CD8. The patient two also displayed low TCRαβ expression and low anti-HBs titer. We went onto identify a homozygous splicing mutation (IVS2-1G>C) in the two affected individuals in the CD3γ gene., Discussion: To date, only four cases have been reported with CD3γ deficiency. Occasionally, the patients present with only autoimmunity including autoimmune hemolytic anemia, vitiligo, Hashimoto's thyroiditis, and autoimmune enteropathy. However, Evans syndrome, autoimmune hepatitis, and nephrotic syndrome have not been reported in previous cases. We believe that our cases will contribute to the literature., (© 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.)

Heparin-induced thrombocytopenia (HIT) is a well described side effect of heparin therapy. A 12-year-old boy developed deep-vein thrombosis. Risk factors for initial thrombosis are antiphospholipid syndrome and heterozygous mutation for prothrombin G20210A. Anticoagulant therapy with warfarin for 12 months was effective, but discontinuation of warfarin after 12 months resulted in recurrence of thrombosis. Unfractionated heparin (UFH) was initiated during the acute period, but heparin-induced thrombocytopenia developed. Transition from UFH to fondaparinux resulted in successful anticoagulation for a period of platelet recovery. We report a case of HIT developing with a background of prothrombotic genetic risk factors and antiphospholipid syndrome. This case study highlights several difficulties in pediatric HIT cases.

Background: Weight gain is a common side effect of valproate (VPA) treatment, although the mechanism is not clear. Abnormal weight gain and obesity are associated with dyslipidemia, hypertension, and atherosclerosis. Measurement of the common carotid artery intima media thickness (CAIMT) gives a picture of early arterial wall alterations and, currently, is considered a noninvasive marker of premature atherosclerosis. The aim of the present study was to evaluate plasma insulin, leptin, neuropeptide Y (NPY), ghrelin, and adiponectin levels in children with epilepsy treated with VPA and to evaluate these parameters for early atherosclerosis., Material and Methods: Twenty prepubertal children with idiopathic epilepsy treated with VPA were enrolled in this study. Body mass index (BMI) and fasting insulin glucose ratio (FIGR) were calculated, and the plasma insulin, leptin, NPY, ghrelin, and adiponectin levels; the lipid profiles; and CAIMT were measured for all subjects before the treatment and after a follow-up period of 6 and 12 months., Results: When pretreatment values were compared with those at the end of 6 and 12 months, the mean BMI values, plasma insulin, leptin, NPY levels, and FIGR were increased, whereas the plasma ghrelin and adiponectin levels, lipid profiles, and CAIMT did not change significantly at the end of 6 and 12 months., Conclusion: These results suggest that weight gain during VPA treatment may be related to increases in insulin, leptin, and NPY levels. Additionally, in this study, no increase in the risk for early atherosclerosis was determined by CAIMT in children with epilepsy treated with VPA.

Background and Purpose: This prospective, randomized, and double-blind clinical study aimed to assess the analgesic efficacy of single-dose intramuscular (IM) injection of dexketoprofen (group DE) compared with single-dose IM injection of diclofenac (group DI) in patients who were undergoing shockwave lithotripsy (SWL)., Patients and Methods: A total of 70 men with single renal or ureteral stones were randomly separated into two groups. The 40 men in group DI received 75 mg IM diclofenac sodium and 30 men in Group DE received 50 mg IM dexketoprofen trometamol 30 minutes before SWL. A 10-point visual analog scale was used to evaluate pain., Results: The age, body mass index, and mean stone burden were comparable between the two groups (P > 0.05). The mean visual analog scale score for group DE was statistically lower compared with the score for group DI (P = 0.02). In 34 (85%) of the 40 men in group DI, the SWL procedure was performed with no, minor, or tolerable pain. In group DE, however, 28 (93.3%) of 30 patients evaluated the pain severity as no, minor, or tolerable (p = 0.01). No major/minor adverse effects were observed in group DI, whereas in one patient in group DE, dyspepsia after injection was noticed (P = 0.423)., Conclusions: The severity of SWL-related pain was significantly better tolerated with dexketoprofen trometamol. During an SWL procedure, the analgesic efficacy of dexketoprofen was greater than that of diclofenac sodium. Although statistically insignificant, a little increased risk for gastric irritation was noticed with dexketoprofen.

Objectives: To identify the prognostic factors and the new parameters that might predict a worse outcome in nonsurvivors compared with survivors of Fournier's gangrene (FG) and evaluated the validity of the Fournier's Gangrene Severity Index (FGSI) in patients with FG., Methods: The medical records of 18 patients with FG who were treated and followed up in our clinic were reviewed. Data were collected in terms of medical history, symptoms, and physical examination findings. The biochemical, hematologic, and bacteriologic study (aerobic and anaeorobic wound cultures) results at admission and at the final evaluation, the physical examination findings, the timing and extent of surgical debridement, and the antibiotic therapy were also recorded. The Charlson Comorbidity Index (CCI) and FGSI were evaluated stratified by survival., Results: The results were evaluated for 2 groups: those who survived (n = 14) and those who did not (n = 4). The admission FGSI score was 5.00 +/- 2.91 (range 0-10) for survivors compared with 13.5 +/- 2.62 (range 9-15) for nonsurvivors (P = .001). The CCI score was 3 +/- 1.5 in survivors and 7 +/- 2.2 in nonsurvivors (P = .008). Individual laboratory parameters such as hypomagnesemia, hemoglobin, hematocrit, alkaline phosphatase, creatinine, and the heart and respiratory rates were associated with a worse prognosis. In addition, a FGSI >9, rectal involvement, colostomy diversion, and a high CCI were associated with high mortality., Conclusions: Low magnesium levels might be a new parameter for a worse prognosis. High CCI and FGSI scores might be associated with a worse prognosis in patients with FG. A FGSI threshold of 9 was a predictor of mortality during the initial assessment., (Copyright 2010 Elsevier Inc. All rights reserved.)

In this experimental study, we assessed the preventive effects of coenzyme Q(10) (CoQ(10)) in a rat model of ischemia/reperfusion injury. The results of this study show that CoQ(10) administration before the reperfusion period of testicular torsion provides a significant decrease in testicular lipid peroxidation products and expressions of inducible nitric oxide synthase, endothelial nitric oxide synthase, and germ cell-specific apoptosis., (Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

We investigated the effect of intraperitoneal vardenafil (1 mg/kg) administration during an ischemic period in a rat model of testicular torsion/detorsion (T/D). Twenty-one adult Wistar rats were equally randomized into a control group, a T/D group and a vardenafil group. The control group was designed to collect basal values for biochemical and histopathological parameters. The T/D group underwent testicular torsion for 1 hour. The vardenafil group received vardenafil (1 mg/kg) intraperitoneally at 30 minutes after torsion. All rats were sacrificed 4 hours after reperfusion to evaluate the tissue levels of malondialdehyde and total antioxidant status. Germ cell apoptosis was evaluated using the apoptosis protease activating factor 1 antibody in all groups. The expressions of endothelial nitric oxide synthase (NOS) and inducible NOS were also assessed in both testes of all rats. The malondialdehyde levels in the T/D group were significantly higher than in the control and vardenafil groups. There were also significant decreases in total antioxidant status in the T/D group compared with the control and vardenafil groups. Vardenafil treatment significantly reduced apoptosis protease activating factor 1, endothelial NOS and inducible NOS levels in the vardenafil group compared with the T/D group. Administration of 1 mg/kg vardenafil during testicular torsion decreased ischemia/reperfusion cellular damage. Our results indicate that the reduction in oxidative stress by vardenafil may play a major role in its cytoprotective effects.

Aims: Our purpose was to determine the incidence of electrocardiographic (ECG) abnormalities in patients with organic erectile dysfunction (ED) and to compare the results with an age-matched control (potent) group., Methods: A total of 218 men with ED of organic etiology formed our study group. A total of 210 age-matched men who had urologic disease other than ED served as control group. An experienced cardiologist who was blind to the primary diagnosis evaluated the ECGs in the entire group. The results were reported as either normal or abnormal according to the presence or absence of an abnormality suggestive for cardiovascular disease., Results: The mean age of the study and control groups was 58 years (range for the study group 28-82 years and for the control group 28-80 years). Abnormal ECG rates among patients with ED and control subjects were comparable. The incidences of ECG abnormalities in the study and control groups were 21.1% and 17.1%, respectively (P = 0,298). No ECG abnormality was detected in males younger than 40 in either group., Conclusion: Middle-aged or older men with ED may carry potential risk for cardiovascular diseases in the absence of cardiovascular symptoms. However, patients with organic ED are not under increased risk for ECG abnormalities.

Objective: Compare clinical outcomes in patients having urothelial tumors invading less than one half of the depth of bladder muscle and greater than one half of bladder muscle and, to determine various clinical variables as predictive factors for survival., Materials and Methods: According to our inclusion criteria, 57 patients among cases with T2 bladder tumor were selected. Thirty-five patients (61.4 %) had pT2a (Group-1) and 22 patients (38.6%) had pT2b (Group-2) muscle invasive tumors. Mean follow up time was 7.3 years for Group-1, and 6.1 years for Group-2. Multivariate analysis was performed in order to identify possible correlation of clinical variables like age, gender, grade of primary tumor, appearance of local and/ or distant metastasis with patient outcome., Results: Five year recurrence-free and overall survival rates were 69.1% and 44.3% for patients with pT2a tumor, whereas these ratios were 66.1% and 43%, respectively for patients with pT2b tumor (p = 0.896; p = 0.975). Mean overall and progression-free survival times were 87.7 +/- 13.8 and 116 +/- 13.12 months for Group-1, while they were 73.8 +/- 13.7 and 88.85 +/- 12.55 months for Group-2, respectively. On both univariate and multivariate analysis, age was noticed as an independent predictive factor for survival., Conclusions: The depth of muscle invasion in bladder tumors has no prognostic significance. Recurrence of the disease either locally or at distant sites dramatically shortens patients' life. Being older than 60 years old during the time of radical surgery, is also a bad prognostic factor for overall and progression-free survival.

A 48-year-old woman presented with a large vulval mass after prolapse of a ureterocele. Her past excretory urogram showed a filling defect (cobra head appearance) in the bladder related to a single-system ureterocele on the left. The mass was manually reduced back through to the urethra under sedation and a urethral catheter was inserted. The anterior wall of the ureterocele was resected transurethrally for definitive treatment.

Objective: To determine the efficacy of shock wave lithotripsy (SWL) in anomalous kidneys., Methods: From October 1990 to October 2002, 150 patients (93 men and 57 women) with anomalous urinary tracts, including 45 horseshoe kidneys, 57 duplex kidneys, 30 malrotated kidneys, 14 pelvic and four crossed ectopic kidneys were treated with SWL for urolithiasis at the Gazi University Faculty of Medicine. Shock wave lithotripsy was performed with Siemens Lithostar plus (Siemans, Erlanger, Germany) device and all procedures were carried under fluoroscopic control., Results: The mean shock wave number and intensity received by the patients was 3770 (range, 1380-4100) shocks and 18.4 (range, 16.1-19) kV per session, respectively. The minimum success rate was obtained in patients with lower calyceal (50%) followed by middle calyceal (60%) calculi. The stone-free rate decreased and the number of sessions per patient increased with increasing stone diameter (dm). In patients with a stone dm > 30 mm, only 34% could be stone-free, compared to a rate of 92% for calculi dm < 10 mm. The overall stone free rate at the third month was 68%. The best stone-free rates were obtained in patients with ureteral duplication (80.7%). The stone-free rates in horseshoe, malrotated, pelvic and crossed ectopic kidneys were found to be 66.7%, 56.7%, 57.2% and 25%, respectively., Conclusion: Shock wave lithotripsy might be an effective and minimally invasive treatment alternative in stone-bearing anomalous kidneys. The type of anomaly, stone burden and localization seem to be the main parameters effecting the treatment success.