Intrafamilial variability of XYLT2-related spondyloocular syndrome

Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species. This report along with the previous reports demonstrates that variable expressivity may be possible even within the same family. These two siblings with a novel mutation further expand the clinical and mutational spectrum of spondyloocular syndrome.     

Effect of methylphenidate treatment on appetite and levels of leptin,ghrelin, adiponectin,and brain-derived neurotrophic factor in children and adolescents with attention deficit and hyperactivity disorder

Objectives. We aimed to explore whether the use of methylphenidate relates leptin, ghrelin, adiponectin, and brain-derived neurotrophic factor (BDNF). In addition, the relationship between methylphenidate-related weight loss in attention deficit hyperactivity disorder (ADHD) patients and these biomolecules were evaluated. Methods. Thirty ADHD patients receiving methylphenidate and 20 healthy controls were included. Leptin, ghrelin, adiponectin, and BDNF levels were measured at baseline and after two-month treatment in both groups. Results. At baseline, leptin, ghrelin, adiponectin, and BDNF levels were similar in the ADHD and control groups. The most common adverse events occurring in the ADHD group after a 2-month treatment period included loss of appetite (70%) and weight loss (66.7%). A significant difference was found in body weight, BMI, and CGI scores of the ADHD patients after the treatment. While post-treatment ghrelin and adiponectin levels were significantly higher in the ADHD group, BDNF level was significantly lower. Post-treatment decrease in leptin levels was not significant. Conclusions. Leptin and BDNF were not associated with poor appetite and/or weight loss due to methylphenidate treatment. However, ghrelin and adiponectin might be biomolecules that play a role in underlying neurobiological mechanisms of methylphenidate-related appetite or weight loss.     

Cerebrospinal fluid superoxide dismutase and serum malondialdehyde levels in patients with aneurysmal subarachnoid hemorrhage: preliminary results

OBJECTIVES: Experimental studies provide evidence that oxidative damage plays a role in the development of vasospasm after aneurysmal subarachnoid hemorrhage (SAH) but data from human studies is still limited. The purpose of this study was to investigate the time course of cerebrospinal fluid (CSF) superoxide dismutase (SOD) and serum malondialdehyde (MDA) changes in patients with aneurysmal SAH. METHODS: SOD in CSF and MDA in the serum were detected on days 1-3, 5 and 7 after aneurysmal SAH in 21 patients, and the results were compared with 15 patients with hydrocephalus. The results were also compared with those of clinical parameters including the patient's outcome at 6 months. RESULTS: The mean CSF SOD levels were lower and serum MDA levels were higher than the controls. Patients with a high amount of blood within the cisterns had a trend to decreased SOD while increasing MDA levels. CONCLUSION: These preliminary results suggest that the levels of antioxidants are decreased after the onset of SAH in the early period, possibly because of increased oxidative stress. Reactive oxygen-mediated oxidative damage may play an important role in inflammation after SAH.     

Nucleus accumbens and impulsivity

The multifaceted concept of impulsivity implies that different impulsivity aspects, mediated by different neural processes, influence behavior at different levels. The nucleus accumbens (NAc) is a key component of the neural processes regulating impulsivity. In this review, we discuss the findings of lesion studies in animals and functional imaging studies in humans focusing on the role of the NAc in impulsivity. Evidence supports that the extent and pattern of involvement of the NAc, and its subregions, the core and the shell, vary among different facets of impulsivity. Data from imaging studies reviewed in this article suggest the involvement of the ventral striatum/NAc in impulsive choice. Findings of animal studies indicate that lesions of the NAc core subregion facilitated impulsivity in tasks involving intertemporal choice, and promoted a risk-averse, less impulsive, tendency in tasks involving options with probability differences. Modification of neurotransmitter activity, especially of dopamine, which is proposed to underlie the changes observed in functional imaging studies, has been shown to influence afferent input pattern in the NAc and the generation of the behavioral output. Parameters of behavioral tasks reflecting response inhibition function are altered by neurochemical interventions and local electrical stimulation in both the core and the shell subregions. In toto, NAc's pattern of neuronal activity, either genetically determined or acquired, has a critical impact on the interindividual variation in the expression of impulsivity. Nevertheless, the NAc is not the only substrate responsible for impulsivity and it is not involved in each facet of impulsivity to the same extent.     

Lipid peroxidation, erythrocyte superoxide-dismutase activity and trace metals in young male footballers

Physical training is known to induce oxidative stress in individuals subjected to intense exercise. In this study, we investigated plasma malondialdehyde (MDA) levels and erythrocyte superoxide dismutase (SOD) activity of 25 young male footballers and a control group of similar age. Red blood cell (RBC) count, haemoglobin (Hb) and haematocrit (Hct) values, and copper (Cu) and zinc (Zn) levels were also examined. The maximal oxygen uptake (VO2max) of all subjects was determined in order to establish their functional capacity. The main finding of the present study was that plasma MDA levels, one of the most commonly used markers of lipid peroxidation, of this group of footballers aged under 21 decreased slightly when compared with those of the control group (p < 0.001). In contrast, erythrocyte SOD activity was higher in the footballer group than in the controls (p < 0.001). Footballers who are under regular training showed an improved antioxidant activity in comparison to sedentary controls. Plasma copper concentration, RBC count and Hb concentration of the footballer group were all significantly lower than those of the control group, (p < 0.001, p < 0.01, p < 0.01, respectively). Investigating the footballers' data with Spearman's correlation analyses, the correlation coefficients (r) between Zn/Cu ratio and SOD was positive (r=0.44; p < 0.05); and between VO2max and SOD (r=0.42; p < 0.05) were both positive. On the basis of statistical analysis, we suggest that regular exercise may be beneficial in cases of oxidative damage by reducing the amount of lipid peroxidation and increasing the activity of the antioxidant enzyme SOD.     

An unusual combination of extremity fractures: floating body injury

Simultaneous quadruple extremity fractures are rare and can be termed as “floating body” injury. A review of the literature produced only one previous report of this rare combination which could not be operated. We presented a 40-year-old female patient with bilateral humerus and femur fractures associated concomitant injuries such as nondisplaced acetabular fracture, rib fractures and traumatic tendon ruptures. She was operated by arthroscopically assisted retrograde intramedullary nailing for femur fractures as well as by external fixators for humerus fractures. She was able to walk with full weight-bearing without any assistance at the end of the first postoperative year. Early fixation of the fractures in floating body injury using retrograde intramedullary nailing and external fixator is successful treatment method.     

Variability of ovarian reserve tests

Sir, The article by Kwee et al. (2004) on the intercycle variabilityof ovarian reserve tests contains important methodological pointsthat require further explanation and clarification before validconclusions can be drawn.

1. The authors mention that cycle day2 or 3 serum FSH values weredetermined as basal values duringclomiphene citrate challengetest (CCCT). It has been reportedthat there is considerablevariation in serum FSH levels between