The evaluation of thiol-disulfide homeostasis in children with Triple-A syndrome.

OBJECTIVE: Triple-A syndrome occurs due to the dysfunction of the ALADIN protein as a result of a mutation in the AAAS gene. ALADIN is involved in redox homeostasis in human adrenal cells and steroidogenesis. It has also been shown to have important roles in DNA repair and the protection of cells against oxidative stress. We planned to investigate serum thiol/disulfide homeostasis, which is a part of redox hemostasis in patients with Triple-A syndrome. PATIENTS AND METHODS: The study included patients with the Triple-A syndrome (26 patients) and healthy children (26 patients). Thiol and disulfide levels of patients and healthy groups were compared. In addition, patients with the Triple-A syndrome were divided into 2 subgroups according to the mutation type, and their thiol and disulfide levels were compared. RESULTS: Triple-A syndrome patients had increased native thiol (SH), total thiol (SH+SS) concentrations, and native thiol/total thiol (SH/SH+SS) ratios than healthy controls. However, Triple-A syndrome patients had lowered disulfide (SS), disulfide/native thiol (SS/SH), and disulfide/total thiol (SS/SH+SS) ratios than the controls. When the group with the p.R478* mutation and the group with other mutation were compared, disulfide level, disulfide/native thiol ratio, and disulfide/total thiol ratio were statistically higher in the group with the p.R478* mutation, while native thiol/total thiol ratio was found to be lower. However, no statistical difference was found between native thiol and total thiol levels. CONCLUSIONS: This is the first study in the literature to evaluate thiol-disulfide homeostasis in patients with the Triple-A syndrome. Patients with Triple-A syndrome had an increased level of thiol compared with healthy controls. Comprehensive studies are needed to clarify these thiol levels, which are thought to be compensatory. Also, mutation type affects thiol-disulfide levels.

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

PURPOSE: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. METHODS: A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon-intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. RESULTS: Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). CONCLUSION: We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.

Thermoluminescence properties of strontium doped magnesium tetraborate.

It is worth to continuous and systematic investigations related with magnesium tetraborate (MBO) due to its attractive candidate for dosimetric application. The study was done to develop new phosphor with adding strontium (Sr) into MBO which was prepared by the simple high temperature solid state method. Its main dosimetric properties, like glow curve structure, dose response, trapping parameters and fading, were investigated for the first time in the literature. The experimental results indicated that Sr doped MBO ensured essential characteristics for applicability in medical dosimetry, except for the fading (45% lost in 7 days) feature. It had main glow peak with highest intensity at nearly 200 °C with good linearity of the dose-response up to 1150 Gy. This study suggests that Sr-doped MBO is a promising material for dosimetric application, just need to solve the fading problem with addition of another activators as a co-dopant.

Nivolumab for relapsed or refractory Hodgkin lymphoma: real-life experience.

BACKGROUND: Reed-Sternberg cells of classical Hodgkin's lymphoma (cHL) are characterized by genetic alterations at the 9p24.1 locus, leading to over-expression of programmed death-ligand 1 and 2. In a phase 1b study, nivolumab, a PD-1-blocking antibody, produced a high response in patients with relapsed or refractory cHL, with an acceptable safety profile. PATIENTS AND METHODS: We present a retrospective analysis of 82 patients (median age: 30 years; range: 18-75) with relapsed/refractory HL treated with nivolumab in a named patient program from 24 centers throughout Turkey. The median follow-up was 7 months, and the patients had a median of 5 (2-11) previous lines of therapy. Fifty-seven (70%) and 63 (77%) had been treated by stem-cell transplantation and brentuximab vedotin, respectively. RESULTS: Among 75 patients evaluated after 12 weeks of nivolumab treatment, the objective response rate was 64%, with 16 complete responses (CR; 22%); after 16 weeks, it was 60%, with 16 (26%) patients achieving CR. Twenty patients underwent subsequent transplantation. Among 11 patients receiving allogeneic stem-cell transplantation, 5 had CR at the time of transplantation and are currently alive with ongoing response. At the time of analysis, 41 patients remained on nivolumab treatment. Among the patients who discontinued nivolumab, the main reason was disease progression (n = 19). The safety profile was acceptable, with only four patients requiring cessation of nivolumab due to serious adverse events (autoimmune encephalitis, pulmonary adverse event, and two cases of graft-versus-host disease aggravation). The 6-month overall and progression-free survival rates were 91.2% (95% confidence interval: 0.83-0.96) and 77.3% (0.66-0.85), respectively. Ten patients died during the follow-up; one of these was judged to be treatment-related. CONCLUSIONS: Nivolumab represents a novel option for patients with cHL refractory to brentuximab vedotin, and may serve as a bridge to transplantation; however, it may be associated with increased toxicity.

A new activator strontium for magnesium tetraborate: PL and TL studies.

Strontium was used for the first time as an activator agent for magnesium tetraborate (MBO) and photoluminescence (PL) and thermoluminescence (TL) properties were determined using a spectrophotometer and a TL reader, respectively. The results proved that 0.25wt% Sr ratio played an important role in prolonging the afterglow and the phosphor gave the main TL peak with the highest intensity at 200°C like an ideal case. Therefore, it is worthwhile to carry out continuous and systematic research on it.

Pseudo-pseudo Meigs' syndrome in a patient with systemic lupus erythematosus.

Pseudo-pseudo Meigs' syndrome (PPMS) is a rare manifestation of patients with systemic lupus erythematosus (SLE), defined by the presence of ascites, pleural effusions and an elevated CA-125 level. We describe a patient with longstanding lupus who presented with localized lymphadenopathy and subsequently developed massive chylous ascites with marked hypoalbuminemia. A brief historical overview of Meigs' syndrome and related entities is presented, along with a discussion of the differential diagnosis of hypoalbuminemia and ascites in an SLE patient. In addition, we speculate on the optimal therapeutic intervention in such a patient.

The analysis of thermoluminescent glow peaks of natural calcite after beta irradiation.

In this study, the thermoluminescence properties of natural calcite samples were examined in detail. The glow curve of the sample irradiated with beta radiation shows two main peaks, P1 (at 115 °C) and P4 (at 254 °C). The additive dose, variable heating rate, computer glow curve deconvolution, peak shape and three point methods have been used to evaluate the trapping parameters, namely the order of kinetics (b), activation energy (E) and the frequency factor (s) associated with the dosimetric thermoluminescent glow peaks (P1 and P4) of natural calcite after different dose levels with beta irradiation.

[Hospitals and other philanthropic foundations in early Byzantine period]. / Erken dönem Bizans hastaneleri ve diger saglik sosyal yardim kurumlari.

Early Byzantine Period includes between A.D. 330 when Constantinople was established and A.D. 518 when Justinus I became emperor. In this time period, a lot of philanthropic foundations such as hospitals, hospices, orphanages, rest homes and soup kitchens are established. Many of patriarchs and religious men opened them. In some of them, it refers to there was patients' care. The oldest hospital in Constantinople was established by Hasios Marcianos, and was next to Saint Irene Church. In addition to this Empress Flacilla wife of Theodosius the Great made hospitals restored and visited patients regularly. Hospitals were not limited in the center of Empire. Hospitals and other philanthropic foundations were established in Antiochia, Alexandria, Nikea, Adrianopolis, Castoria and Jerusalem. The concept of the modern hospital (the actual care, 'hospitality' and treatment of visitors) for the civilian masses in Europe didn't come to fruition until post Constantine and the rise of Christianity. While these early Christian hospitals were grossly over their heads regarding medical capability (they essentially served as last stops for the dying or quarantine centers), the concept of providing care to the public was the actual intent. In this regard, the first civilian hospitals were developed.

Tetanus IgG antibody levels in children aged 12 to 47 months in Turkey.

Tetanus is a serious disease with high mortality, which is very difficult to treat but can be prevented easily by vaccination. The number of tetanus cases reported in Turkey was 42 in 1996 and 51 in 1997. This study was carried out on children aged 12 to 47 months who have vaccination cards in the No. l Health Centre in Batikent district in Ankara, Turkey. Forty-one of the children had received 3 doses (Group 1) of tetanus vaccine, and 47 of them had received 4 doses of the vaccine (Group 2). Anti-toxoid IgG antibody in blood sera was quantified by using the enzyme-linked immunosorbent assay technique. In Group 1, antibody levels more than 0.01 IU/mL were found in 47%, 43%, and 45% of blood sera of children aged 12 to 23 months, 24 to 35 months, and 36 to 47 months, respectively. These rates in Group 2 were found to be 91%, 88%, and 60%, respectively. The protective antibody response (>1 IU/mL) was found to be higher for children in Group 2 than in Group 1, but both rates declined with age. Checking immunization status periodically and giving vaccine doses as required are essential to increase the antibody response. Further, it is a must in developing countries where vaccination efforts are hindered by cold-chain problems, underoptimum application practice, and high prevalence of concomitant infections.

Flap complications in our learning curve of laser in situ keratomileusis using the Hansatome microkeratome.

PURPOSE: To determine the incidence and the type of flap complications in our initial series of eyes undergoing laser in situ keratomileusis and the impact of microkeratome-related complications on best spectacle-corrected visual acuity. METHODS: We reviewed the charts of the 630 consecutive eyes operated in the Refractive Surgery Department of Cerrahpasa Medical School, University of Istanbul, Turkey using the Hansatome microkeratome and the Summit, SVS Apex Plus excimer laser between March 1998 and November 1999. The mean follow-up was 12.6 months. RESULTS: The incidence of total flap complications was 19.8%. Flap folds (5%) were the most common complication. The incidence of epithelial ingrowth was 3.3%. Diffuse lamellar keratitis was encountered in 20 cases (3.17%). Displaced flaps were seen shortly after the procedure in 8 eyes (1.26%) and repositioned immediately. Improper keratectomy occurred in 14 eyes (2.2%) and incomplete keratectomy in four procedures (0.63%). The presence of interface debris and hemorrhage was each 1.9%. We observed one interface abscess, which was culture-negative and cured with fortified antibiotics, and one free flap. CONCLUSIONS: Although the LASIK procedure with the Hansatome had an easy learning curve without any of the serious complications that frequently occur in this phase, we still observed flap related complications that affected visual outcome.

Optical coherence tomography for evaluation of anatomical changes in the cornea after laser in situ keratomileusis.

PURPOSE: To examine the use of optical coherence tomography (OCT) in evaluating anatomical changes after laser in situ keratomileusis (LASIK) and complications related to the interface and corneal flap. SETTING: Istanbul University Eye Research Center and Department of Ophthalmology, Cerrahpasa Medical School, Istanbul, Turkey. METHODS: Eleven eyes of 11 patients who had myopic LASIK were included in the study. Mean age of the 7 men and 4 women was 29.4 years +/- 6.9 (SD). Cases analyzed included uneventful LASIK (4 eyes), epithelial ingrowth (5 eyes), and flap striae (2 eyes). Corneas were examined by OCT (Humphrey Systems). RESULTS: Optical coherence tomography resolved corneal flap and residual stromal layers in all cases. The mean thickness of the corneal flap and residual stroma was 138.2 +/- 16.5 microm and 321.7 +/- 32.1 microm, respectively. Interface between the corneal flap and residual stroma was shown by OCT. Optical coherence tomography revealed that the eye with flap striae had flap displacement undetected by biomicroscopy. Epithelial ingrowth was shown as a highly reflective area. CONCLUSION: Optical coherence tomography appears to be a promising method for evaluating anatomical changes in the cornea after LASIK.

Reproducibility of corneal flap thickness in laser in situ keratomileusis using the Hansatome microkeratome.

PURPOSE: To evaluate the reproducibility of flap thickness during laser in situ keratomileusis (LASIK) and to analyze the effect of preoperative central corneal thickness and corneal keratometric power on flap thickness. SETTING: Department of Ophthalmology, Cerrahpasa Medical School, Istanbul, Turkey. METHODS: One hundred forty eyes with a mean preoperative pachymetry of 554.4 microm +/- 36.3 (SD) and a mean keratometry of 43.5 +/- 1.9 diopters had LASIK using the Hansatome automated microkeratome (Bausch & Lomb Surgical) and a 193 nm argon-fluoride excimer laser (Summit SVS Apex Plus). The 180 microm microkeratome plate was used in all procedures. Corneal thickness was measured with an ultrasonic pachymeter (Advent, Mentor O&O Inc.) before and during the flap procedure, and the difference was taken as flap thickness. The data were analyzed using a 1-tailed t test and Pearson correlation coefficient. RESULTS: The mean flap thickness was 120. 8 +/- 26.3 microm. There was a low correlation between baseline central corneal thickness and corneal flap thickness (P =.6, r = 0. 046). There was no correlation between preoperative keratometry and flap thickness (P =.01, r = 0.203). CONCLUSIONS: The Hansatome microkeratome does not always produce a corneal flap of the intended thickness. Factors other than keratometry and pachymetry must affect flap thickness.

Silicone oil removal using a self-sealing corneal incision under topical anesthesia.

BACKGROUND AND OBJECTIVE: To report the results of silicone oil removal from aphakic eyes using a self-sealing clear corneal incision under topical anesthesia. PATIENTS AND METHODS: Twenty-two eyes of 22 patients who had pars plana vitrectomy combined with silicone oil injection underwent silicone oil removal under topical anesthesia using a self-sealing clear corneal incision. Mean time between silicone oil injection and removal was 3.1+/-1.42 months. Fourteen eyes were filled with 1300 cs of silicone oil and 8 eyes were filled with 5700 cs of silicone oil. The removal was performed with passive washout in the eyes filled with 1300 cs of silicone oil and with active aspiration in the eyes filled with 5700 cs of silicone oil. RESULTS: All of the 22 silicone oil removal procedures performed under topical anesthesia had clear corneal incisions that did not require suturing at the end of surgery. Three cases that had 1300 cs of silicone oil required aspiration because of residual silicone oil bubbles. CONCLUSION: Silicone oil can be removed from the aphakic eye using a self-sealing corneal tunnel incision under topical anesthesia.