Severe constricting ring syndrome: case report

This report presents a case of a male newborn with a severe circumferential amniotic band, treated by single-stage excision of the ring, and microvascular venous anastomosis between the proximal and distal parts of the affected site. No complications were encountered. A microsurgical approach to improve the circulation may be useful in some cases.     

Role of early EEG and neuroimaging in determination of prognosis in children with complex febrile seizure

BACKGROUND: The present study investigates the role of early use of EEG in children with no known neuropathology prior to the first CFS, and the contribution made by computed tomography (CT) and magnetic resonance imaging (MRI) to treatment and prognosis. METHODS: Over a period of 7 years, the authors evaluated 159 children (age range: 2 months-5 years) who were being treated for CFS at Haydarpasa Numune Training and Research Hospital, Pediatrics Clinic, Istanbul, Turkey, and who had no previously known neurological disorder. Patients who presented with febrile seizure were determined to have CFS if they fulfilled the following criteria: <3 months of age when seizure occurred, duration of seizure >/=15 min, more than one seizure occurred during a single episode of illness, or focal seizures and postictal neurological deficit was found. EEG was performed on all patients. CT was performed on the patients who had postictal neurologic deficit or focal seizures. Cranial MRI was performed on patients who had focal findings in their EEGs. RESULTS: Electroencephalogram abnormality was found in 71 cases; 51 of these were diagnosed with epilepsy during follow up. Six of the 16 cases whose EEGs were abnormal between days 2 and 6 were diagnosed with epilepsy. Twenty of the 30 cases whose EEGs were abnormal between days 7 and 10 were diagnosed with epilepsy. All 25 cases who had abnormal EEGs after day 11 were diagnosed with epilepsy. CT was performed for 36 patients, of which five were found to have pathological changes. Pathological changes were detected in two of the nine patients who had cranial MRI. Patients who received CT or MRI were all diagnosed with epilepsy during follow up. CONCLUSION: The results suggest that if neurological examination of CFS patients are normal after their clinical status has stabilised, EEG should be performed after 7 days at the earliest, however for the most accurate diagnosis EEG should be performed 10 days after CFS. The most important predictor for neuroimaging was found to be detection of postictal neurologic deficit. MRI had no advantages over CT in first treating CFS in the emergency unit.     

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

BackgroundFamilial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.MethodsWe included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. ResultsAmong 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.ConclusionIn this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.     

Effects of subchronic exposure to zinc nanoparticles on tissue accumulation,serum biochemistry,and histopathological changes in tilapia (Oreochromis niloticus)

Zinc nanoparticles (ZnNPs) are among the least investigated NPs and thus their toxicological effects are not known. In this study, tilapia (Oreochromis niloticus) were exposed to 1 and 10 mg/L suspensions of small size (SS, 40–60 nm) and large size (LS, 80–100 nm) ZnNPs for 14 days under semi‐static conditions. Total Zn levels in the intestine, liver, kidney, gill, muscle tissue, and brain were measured. Blood serum glucose (GLU), glutamic oxaloacetic transaminase (GOT), glutamic pyruvic transaminase (GPT), and lactate dehydrogenase (LDH) were examined to elucidate the physiological disturbances induced by ZnNPs. Organ pathologies were examined for the gills, liver, and kidney to identify injuries associated with exposure. Significant accumulation was observed in the order of intestine, liver, kidney, and gills. Zn levels exhibited time‐ and concentration‐dependent increase in the organs. Accumulation in kidney was also dependent on particle size; NPs SS‐ZnNPs were trapped more effectively than LS‐ZnNPs. No significant accumulation occurred in the brain (p > 0.05) while Zn levels in muscle tissue increased only marginally (p ≥ 0.05). Significant disturbances were noted in serum GOT and LDH (p < 0.05). The GPT levels fluctuated and were not statistically different from those of controls (p > 0.05). Histopathological tubular deformations and mononuclear cell infiltrations were observed in kidney sections. In addition, an increase in melano‐macrophage aggregation intensity was identified on the 7th day in treatments exposed to LS‐ZnNPs. Mononuclear cell infiltrations were identified in liver sections for all treatments. Both ZnNPs caused basal hyperplasia in gill sections. Fusions appeared in the gills after the 7th day in fish treated with 10 mg/L suspensions of SS‐ZnNPs. In addition, separations in the secondary lamella epithelia were observed. The results indicated that exposure to ZnNPs could lead to disturbances in blood biochemistry and cause histopathological injuries in the tissues of O. niloticus. © 2016 Wiley Periodicals, Inc. Environ Toxicol 32: 1213–1225, 2017.     

One-stage vs. two-stage adjustable sutures for the correction of esotropia

BACKGROUND The aim of this study was to evaluate the stability and the level of postoperative consciousness, nausea and vomiting, ocular pain, starting oral intake and activity, and cost-effectiveness in patients undergoing medial rectus recession surgery using an adjustable suture technique that was performed by two different methods. METHOD In this prospective study, we evaluated 78 patients undergoing medial rectus recession surgery. Thirty-eight patients were operated by a one-stage technique in which the whole operation was done under topical anesthesia and adjustment was done on the operating table, while 40 patients were operated by a two-stage technique in which the operation was done under general anesthesia and adjustment was done the following day at the patient’s bedside. The results were recorded and compared according to the parameters given above. A scoring system was used to assess all these parameters except for stability. The stability of the procedures was evaluated according to the degrees of squint immediately after the adjustment and at least three months thereafter. RESULTS There was no significant difference between the procedures with regard to stability and ocular pain. During the early postoperative period, the level of consciousness was better and nausea and vomiting occurred less frequently in the patients operated by the one-stage procedure. Postoperative activity and oral intake returned to normal status more quickly in the one-stage group and the one-stage procedure was cost-effective. CONCLUSION We conclude that although both procedures provide satisfactory and stable results, the one-stage procedure has significant advantages over the two-stage procedure for medial rectus recession surgery in suitable cases.     

Long-term results of four horizontal rectus muscle recession in nystagmus treatment

Purpose: To report the long-term results of four horizontal rectus muscle recessions that were performed for infantile nystagmus syndrome treatment.

Methods: In this case series, patients with infantile nystagmus syndrome who had four horizontal muscle recessions previously were recruited and ophthalmological examination and electronystagmography recordings were performed. Objectively, amplitude and frequency of nystagmus were measured from the recordings and the intensity was calculated. Visual acuity, stereopsis, and alignment were evaluated and compared with the preoperative and postoperative values.

Results: The records of the 12 patients who had four horizontal rectus muscle recession surgery were evaluated and six patients (5 male, 1 female) who had regular follow-ups were included in this study. Mean follow-up was 14.17?±?0.41 years (minimum 14 years, maximum 15 years) and mean age of patients at the last visit was 22 years (20-28 years). On subjective evaluation, two-thirds (4/6) of the patients were satisfied with the surgical results and had the impression that after surgery, nystagmus decreased in intensity and head posture improved. On objective evaluation, visual acuity was found to be the same, however, stereopsis improved (preoperatively and postoperatively median stereopsis was 600?sec arc vs 200?sec arc final). The decrease in nystagmus amplitude and frequency was still maintained.

Conclusions: Nystagmus surgery on four horizontal rectus muscles has positive effects on binocular function and nystagmus parameters in the long-term follow-up. As we could not treat the primary pathology, the visual acuity was about the same but the decrease in nystagmus amplitude and frequency was still maintained with better stereopsis, and patient satisfaction.     

Double probing of human spermatozoa for persistent histones, surplus cytoplasm, apoptosis and DNA fragmentation

Individual spermatozoa were assessed with pairs of probes for persistent histones and cytoplasmic retention, persistent histones and DNA fragmentation, and persistent histones and apoptotic markers. The individual spermatozoa were treated sequentially with combinations of probes for these cytoplasmic and nuclear biochemical markers. Sperm fields were recorded with computer-assisted imaging, and staining patterns with the two probes in the same spermatozoa were examined and scored as light, intermediate or dark (mature to arrested-maturity spermatozoa). The effects of arrested sperm maturation were similar with respect to the cytoplasmic and nuclear characteristics of spermatozoa in 84% of cells, indicating that cytoplasmic and nuclear attributes of arrested sperm maturation are related. However, there were moderate (intermediate-dark or intermediate-light patterns, 14.5% of cells) or major (light-dark patterns, 1.6% of cells) discrepancies in the intensity of the double staining patterns. Thus, testing with single maturity markers may not be fully reliable. These findings are important with respect to: (i) arrested sperm maturation; (ii) potential efficacy of antioxidant and similar therapeutic strategies in subfertile men, as spermatozoa with infrastructure defects due to mismaturation or maturation arrest are unlikely to respond to interventions; and (iii) detection of adverse male environmental exposures.     

Serum leptin level in women with unexplained infertility

INTRODUCTION: The aim of this study was to compare serum levels of leptin in women with unexplained infertility with fertile subjects. MATERIAL AND METHOD: Serum leptin levels of 27 infertile and 30 fertile women on day 3 of the menstrual cycle were assessed and compared in this prospective age and body mass index (BMI) comparable controlled study. RESULTS: The mean age in the infertile group was 29.3 (range, 23-38), while this figure was 28.9 (range, 19-39) in the fertile group; the mean BMIs were 24.5 (range, 20.6-27.8) and 25.0 (range, 21.8-28.7), respectively. The mean serum leptin level was significantly higher in women with unexplained infertility compared with fertile subjects. Considering normal weight subjects, mean serum leptin levels were increased significantly in the unexplained infertile group compared with the fertile group (7.2 (range, 4.3-10.4) versus 3.5 (range, 1.9-6.2)ng/ml, respectively; p<0.0001, Mann-Whitney U-test). The significant increase in serum leptin levels was observed also in overweight patients (6.8 (range, 1.3-5.2) versus 3.3 (range, 4.2-8.9)ng/ml, respectively; p<0.0001, Mann-Whitney U-test). CONCLUSION: A significant difference in serum leptin levels between unexplained infertile and fertile women suggests that this cytokine may be involved in pathophysiology of unexplained infertility.