Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient’s initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis

Does Dietary Treatment Cause Obesity In Phenylketonuria? Comparison Of Obesity Ratios Of Patients Receiving Dietary Treatment And Tetrahydrobiopterin Treatment

Phenylketonuria is treated by either with tetrahydrobiopterin (BH4) or with phenylalanine-restricted diet. Patients on diet group may have a tendency of consume carbohydrate-rich foods and henceforth a risk of developing obesity. In this study, the prevalence of obesity+overweight among phenylketonuria patients either treated with phenylalanine-restricted diet or with BH4 are compared. Patients with phenylketonuria were divided into two groups as on dietary treatment and on BH4 treatment. Body mass index (BMI), BMI-percentile and z-score values of patients were calculated and classified as malnutrition, normal-weight, overweight and obese according to their nutritional status. The annual mean phenylalanine level of each patient is also evaluated. The study was done retrospectively.Total of 130 patients were included. 77 were receiving diet (female (n,%):37, 48.1%; male (n,%):40, 51.9%) and 53 were receiving BH4 (female(n,%):33, 62.3%; male(n,%):20, 37.7%) respectively. According to BMI-z-score, 35.1% were obese+overweight in the diet group vs. 16.9% in the BH4 group. The percentage was significantly higher in the diet group (p = 0.02). Obesity+overweight percentages in female/male patient groups showed no significant difference. Considering the correlation between obesity+overweight and age in the BH4 group, the median age of the patients with normal weight+malnutrition were found as 46-months, and that of obese+overweight patients were 137-months (p=0,001). For the same correlation, there was no significant difference in the dietary treatment group (p = 0.92). Mean annual phenylalanine levels were significantly higher in obese+overweight patients (p=0.047) in the BH4 treatment group but this difference was not significant in the diet group (p=0.051). Patients on phenylalanine-restricted diet have a risk of obesity or overweight. Therefore, attention should be paid not only to the phenylalanine levels of these patients, but also to their weight control and dietary content

Corneal properties in children with congenital isolated growth hormone deficiency

<b>AIM:</b>To compare the corneal parameters of children with congenital isolated growth hormone deficiency and healthy subjects.<b>METHODS:</b> In this cross-sectional, prospective study, 50 cases with growth hormone (GH) deficiency treated with recombinant GH and 71 healthy children underwent a complete ophthalmic examination. The corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were measured with the Ocular Response Analyzer (ORA). Central corneal thickness (CCT) was measured by a ultrasonic pachymeter.<b>RESULTS:</b> The mean age was 13.0±3.0 years in the GH deficiency group consisting of 21 females and 29 males and 13.4±2.4 years in the healthy children group consisting of 41 females and 30 males. There was no statistically significant difference between the groups for gender or age (Chi-square test, <i>P</i>=0.09; independent <i>t</i>-test, <i>P</i>=0.28, respectively). The mean duration of recombinant GH therapy was 3.8±2.4y in the study group. The mean CH, CRF, IOPg and IOPcc values were 11.0±2.0, 10.9±1.9, 15.1±3.3, and 15.1±3.2 mm Hg respectively in the study group. The same values were 10.7±1.7, 10.5±1.7, 15.2±3.3, and 15.3±3.4 mm Hg respectively in the control group. The mean CCT values were 555.7±40.6, 545.1±32.5 µm in the study and control groups respectively. There was no statistically significant difference between the two groups for CH, CRF, IOPg, IOPcc measurements or CCT values (independent <i>t</i>-test, <i>P</i>=0.315, 0.286, 0.145, 0.747, 0.13 respectively).<b>CONCLUSION:</b> Our study suggests that GH deficiency does not have an effect on the corneal parameters and CCT values. This observation could be because of the duration between the beginning of disease and the diagnosis and beginning of GH therapy

Shotblocker or Cold Application; Which One is More Effective in Reducing Anxiety and Pain Associated with the Intramuscular Injection in Children?: A Randomized Controlled Trial

Objective: Pain is associated with most invasive interventions in childhood and considered as an unpleasant condition; thus, it should be relieved. This study aimed at investigating the effect of two different non-pharmacological pain-relief methods on reducing the pain and anxiety associated with intramuscular (IM) injection in children. Methods: This study was a prospective experimental randomized controlled trial. The sample of the study comprised 150 children aged 7 to 12 years who were brought to the pediatric injection room in a university hospital and had IM injection. The children were randomized into the Shotblocker (n=50), cold application (n=50) and control (n=50) groups. Results: The children in the control group felt pain more than did the children in the ShotBlocker and cold application groups. The difference was statistically significant. Assessment of the anxiety level during the IM injection demonstrated that the children in the control group experienced anxiety statistically significantly more than did the children in the ShotBlocker group. Conclusion: The children in the ShotBlocker and cold application groups experienced pain less than did the children in the control group during the IM injection. When compared to the Cold Application method, ShotBlocker method is more effective in reducing IM injection-related pain and fear

3D textile composite beams with a new weaving pattern

In this study, the wetting and mechanical properties of the altering architectural weave pattern for the load-bearing walls with crosslink points during and after composite production were investigated. In I beams with load-bearing walls, we expect more durable load-bearing walls I beams with the creation of LB-II structures by changing the architectural patterns of the middle wall. Considering different wettability and permeability values are provide to fabricate high-quality 3D woven I beam structures. Another issue that needs attention in our study is the cutting of the fabrics after weaving. Using tools for cutting allows the transfer of fibres to the VARTM process without disturbing the configuration

Endothelial function in patients with metabolic syndrome and erectile dysfunction : a question of Angiopoietin imbalance?

Erectile dysfunction (ED) is a highly prevalent disease whose aetiology is mostly vasculogenic. It is nowadays considered a marker of future cardiovascular events reflecting the underlying endothelial dysfunction, the common link with the metabolic syndrome (MetS). The recent association between MetS, endothelial dysfunction and peripheral artery disease, but not with coronary artery disease (CAD), suggests that the pathophysiologies of CAD and peripheral artery disease may be distinct. Moreover, several recent studies support an emerging role for an imbalance of angiogenic growth factor levels like Angiopoietin 1 and 2 in cardiovascular disease, considering its intimate association with chronic low-grade inflammation. We aim to find a correlation between Angiopoietins levels and systemic and local endothelial function in MetS and ED patients. Forty-five MetS patients with ED were enrolled. ED severity was assessed by International Index of Erectile Function questionnaire (IIEF5) and penile duplex Doppler ultrasound (PDDU). Endothelial function was assessed by Peripheral arterial tonometry (PAT), and serum asymmetric dimethylarginine (ADMA), Ang1 and Ang2 levels. Obesity and hypertension were the most frequent MetS parameters (91.1 and 88.9% respectively). Severe ED was present in 35.6% of patients. Penile haemodynamic was impaired in 77.5%. Endothelial dysfunction (PAT criteria) was present in 40.9% of patients. Ang2 levels were significantly higher in men with abdominal obesity. We observed an inverse correlation between Ang1 and peak systolic velocity, and in patients with penile arterial dysfunction, Ang1 levels were significantly higher and Ang2/Ang1 ratio significantly lower, than patients with normal arterial function. Neither ADMA nor PAT parameters were correlated with ED severity evaluated by IIEF5 or PDDU exam. In conclusion, there is an imbalance of angiopoietins in MetS and ED patients. The absence of correlation with PAT or ADMA levels suggests that angiopoietins may be early markers of endothelial dysfunction in this population of higher cardiovascular risk

Forecasting drug utilization and expenditure in a metropolitan health region

<p>Abstract</p> <p>Background</p> <p>New pharmacological therapies are challenging the healthcare systems, and there is an increasing need to assess their therapeutic value in relation to existing alternatives as well as their potential budget impact. Consequently, new models to introduce drugs in healthcare are urgently needed. In the metropolitan health region of Stockholm, Sweden, a model has been developed including early warning (horizon scanning), forecasting of drug utilization and expenditure, critical drug evaluation as well as structured programs for the introduction and follow-up of new drugs. The aim of this paper is to present the forecasting model and the predicted growth in all therapeutic areas in 2010 and 2011.</p> <p>Methods</p> <p>Linear regression analysis was applied to aggregate sales data on hospital sales and dispensed drugs in ambulatory care, including both reimbursed expenditure and patient co-payment. The linear regression was applied on each pharmacological group based on four observations 2006-2009, and the crude predictions estimated for the coming two years 2010-2011. The crude predictions were then adjusted for factors likely to increase or decrease future utilization and expenditure, such as patent expiries, new drugs to be launched or new guidelines from national bodies or the regional Drug and Therapeutics Committee. The assessment included a close collaboration with clinical, clinical pharmacological and pharmaceutical experts from the regional Drug and Therapeutics Committee.</p> <p>Results</p> <p>The annual increase in total expenditure for prescription and hospital drugs was predicted to be 2.0% in 2010 and 4.0% in 2011. Expenditures will increase in most therapeutic areas, but most predominantly for antineoplastic and immune modulating agents as well as drugs for the nervous system, infectious diseases, and blood and blood-forming organs.</p> <p>Conclusions</p> <p>The utilisation and expenditure of drugs is difficult to forecast due to uncertainties about the rate of adoption of new medicines and various ongoing healthcare reforms and activities to improve the quality and efficiency of prescribing. Nevertheless, we believe our model will be valuable as an early warning system to start developing guidance for new drugs including systems to monitor their effectiveness, safety and cost-effectiveness in clinical practice.</p

Male Oxidative Stress Infertility (MOSI):proposed terminology and clinical practice guidelines for management of idiopathic male infertility

Despite advances in the field of male reproductive health, idiopathic male infertility, in which a man has altered semen characteristics without an identifiable cause and there is no female factor infertility, remains a challenging condition to diagnose and manage. Increasing evidence suggests that oxidative stress (OS) plays an independent role in the etiology of male infertility, with 30% to 80% of infertile men having elevated seminal reactive oxygen species levels. OS can negatively affect fertility via a number of pathways, including interference with capacitation and possible damage to sperm membrane and DNA, which may impair the sperm's potential to fertilize an egg and develop into a healthy embryo. Adequate evaluation of male reproductive potential should therefore include an assessment of sperm OS. We propose the term Male Oxidative Stress Infertility, or MOSI, as a novel descriptor for infertile men with abnormal semen characteristics and OS, including many patients who were previously classified as having idiopathic male infertility. Oxidation-reduction potential (ORP) can be a useful clinical biomarker for the classification of MOSI, as it takes into account the levels of both oxidants and reductants (antioxidants). Current treatment protocols for OS, including the use of antioxidants, are not evidence-based and have the potential for complications and increased healthcare-related expenditures. Utilizing an easy, reproducible, and cost-effective test to measure ORP may provide a more targeted, reliable approach for administering antioxidant therapy while minimizing the risk of antioxidant overdose. With the increasing awareness and understanding of MOSI as a distinct male infertility diagnosis, future research endeavors can facilitate the development of evidence-based treatments that target its underlying cause