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Background: Treatment with atypical antipsychotics is today the election therapy for different types of psychosis, but there is a high incidence of endocrine and metabolic disturbances. One of the major enzymes involved in the metabolism of antipsychotics is CYP2D6. Depending on the existing CYP2D6 alleles, the metabolic capacity of the enzyme may vary from very low to very high, so that patients can be grouped into four phenotypic groups: slow, intermediate, extensive (normal), and fast metabolizers., Aim of the Study: The aim of the study is to find a relationship between the individual intervariability of CYP2D6 and the incidence of hyperprolactinemia as side effect of atypical antipsychotics., Results: A total of 81 patients with schizophrenia or bipolar disorders, median age 15.74 ± 4 years, were enrolled in the study and prescribed the following atypical antipsychotics: risperidone, aripiprazole, and olanzapine. They were evaluated at 6, 12, and 18 months after the initiation of treatment. Using the TaqMan Genotyping Assay, it has been identified the presence of the CYP2D6*4 allele in 28 patients, representing 34.56% of the total of 81 patients in the study, and CYP2D6*3 allele was identified in 15 patients and the presence of CYP2D6*41 to 11 patients. The allele CYP2D6*5 has not been present to the study patients. The study group has 44 patients which are extensive metabolizers (54%), 34 intermediate metabolizers (42%), and 3 poor (slow) metabolizers (4%)., Conclusions: For the slow and intermediate metabolizers, atypical antipsychotics determined a significant increase of prolactinemia with high risk of adverse events.

Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition in red blood cells (RBCs) and genetic variations involved in PUFA metabolism has not been investigated in children with obesity. This study evaluated the association between several genetic variations and PUFA levels in RBCs in children with obesity. One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine N -methyltransferase ( PEMT ) rs1109859 and methylenetetrahydrofolate reductase gene ( MTHFR ) rs4846052 genotypes were associated with PUFA levels in RBCs. PUFA intake did not influence the RBC eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) levels. Higher RBC DHA and EPA levels were observed for PEMT rs1109859 GG and GA genotypes versus the AA genotype. Higher levels of RBC DHA, EPA, arachidonic acid (ARA), and linoleic acid (LA) and were observed for MTHFR rs4846052 TT genotype versus TC and CC genotypes. Genetic variations in PEMT rs1109859 and MTHFR rs4846052 were associated with different PUFA levels in RBC membranes and are estimators for PUFA species in RBCs. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children.

Background: Genetic markers are routinely used in human identification of paternity, maternity, and kinship cases. We describe a DNA paternity case with one mismatch on SE33 locus between the alleged father (AF) and the child (daughter). Because there was a father-daughter relationship to solve this case we used chromosome X-STRs markers too., Methods: As reference samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). The DNA samples were quantified on a 7500 ABI real-time PCR using the Investigator Quantiplex Pro Kit (Qiagen, Germany). Salivary DNA samples were amplified on a ProFlex PCR System (ThermoFischer, USA) using the multiplex STR markers from the AmpF/STR® NGM Select PCR Amplification Kit (Thermo-Fischer, USA) and Investigator® Argus X-12 QS kit markers (Qiagen, Germany). PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (ThermoFischer, USA)., Results: The AF was excluded from paternity on STRs markers due to one mismatch on SE33 locus. To confirm or exclude the paternity, we used the chromosome X-STRs markers, obtaining a perfect match between the AF and his daughter., Conclusions: In paternity testing, where one or two mismatches are present between the child (daughter) and the AF on different loci on STR markers, the use of chromosome X-STRs is needed for the confirmation or exclusion of paternity.

People with obesity in Romania are often under medical supervision, which is aimed to decrease body weight and treat accompanying metabolic disorders and cardiovascular implications. However, there is limited information regarding the implementation of dietary recommendations in adults with obesity. We aimed to evaluate the prevalence of reaching the recommended intakes of macro- and micro-nutrients in adults with obesity under medical supervision. Individuals with obesity, recruited in the context of a study with a larger scope (NutriGen ClinicalTrials.gov NCT02837367), who were under medical supervision underwent four 24 h recalls in order to assess daily food intakes. Macro- and micro-nutrient intakes were computed, and the prevalence of reaching recommended dietary allowances (RDAs) for each nutrient was calculated. The majority of subjects did not meet the recommended intakes for most nutrients. Energy from fat exceeded the threshold of 35% recommended intake, even in the lowest quartile of energy intake. The micronutrients with less than 5% of individuals reaching the RDAs were vitamin D, vitamin E, fluoride, and omega-3 fatty acids for both males and females, and choline, magnesium, and potassium in females. The burden of inadequate nutrition in individuals with obesity should be acknowledged and properly addressed within efforts to reduce obesity rates and associated disorders.

Rationale: Tachycardia-induced cardiomyopathy (TIC) is defined as systolic and/or diastolic dysfunction of the left ventricle resulting from prolonged elevated heart rates, completely reversible upon control of the arrhythmia. Atrioventricular reentrant tachycardia (AVRT) is one of the most frequent causes of TIC. In its incessant form, it is unlikely to be controlled by pharmacological treatment, catheter ablation being the principal therapeutic option. The coexistence of left bundle branch block (LBBB) in patients with AVRT may cause difficulties in the early diagnosis and management of tachycardia because of the wide complex morphology, making it harder to localize the accessory pathway (AP)., Patient Concerns: A 60-year-old woman, presented incessant episodes of palpitations and shortness of breath due to a LBBB tachycardia leading to hemodynamic instability., Diagnosis: The patient had a wide QRS tachycardia, with LBBB morphology and a heart rate of 160/minute. Echocardiography showed global hypokinesia with 25% left ventricular ejection fraction (LVEF). Considering the patient's clinical picture, TIC was suspected., Interventions: The electrophysiological study revealed a left lateral accessory pathway. Catheter ablation was successfully performed at the level of the lateral mitral ring., Outcomes: One week after the ablation the patient had no signs of heart failure and the LVEF normalized to 55%. During 6-months follow-up the patient presented no more episodes of tachycardia or heart failure and the LVEF remained normal., Lessons: AVRT is rarely associated with intrinsic LBBB, being a potential cause of TIC. In these patients, it is unlikely to control the arrhythmia pharmacologically, catheter ablation being the best therapeutic option. The variation of QRS complex duration between LBBB pattern in SR and AVRT could be useful for early diagnosis of an ipsilateral AP on surface ECG.

Background Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed the decipherment of disease aetiology, both in cases of syndromic obesity as well as in cases of isolated or syndromic DD/ID. However, more data are needed to further elucidate the link between the two. The aim of this pangenomic study was to use single nucleotide polymorphism (SNP) array technology to determine the copy number variant (CNV) type and frequency associated with both obesity and DD/ID. Methods Thirty-six patients were recruited from the Clinical Emergency Hospital for Children, in Cluj-Napoca, Romania during the period 2015-2017. The main inclusion criterion was a diagnosis that included both obesity and DD/ID. Genomic analysis via SNP array technology was performed. Results Out of the 36 patients, 12 (33%) presented CNVs with a higher degree of pathogenicity (A group) and 24 (66%) presented benign CNVs (B group). The SNP array results for the A group were as follows: pathogenic CNVs in 8/12 patients (67%); variants of unknown significance (VOUS) in 2/12 patients (16%); and uniparental disomy (UPD) in 2/12 patients (16%). Conclusions Some of these CNVs have already been observed in patients with both obesity and DD/ID, but the others were noticed only in DD/ID patients and have not been described until now in association with obesity.

Tuberculosis (TB) is recognised as one of the most pressing global health threats among infectious diseases. Bacteriophages are adapted for killing of their host, and they were exploited in antibacterial therapy already before the discovery of antibiotics. Antibiotics as broadly active drugs overshadowed phage therapy for a long time. However, owing to the rapid spread of antibiotic resistance and the increasing complexity of treatment of drug-resistant TB, mycobacteriophages are being studied for their antimicrobial potential. Besides phage therapy, which is the administration of live phages to infected patients, the development of drugs of phage origin is gaining interest. This path of medical research might provide us with a new pool of previously undiscovered inhibition mechanisms and molecular interactions which are also of interest in basic research of cellular processes, such as transcription. The current state of research on mycobacteriophage-derived anti-TB treatment is reviewed in comparison with inhibitors from other phages, and with focus on transcription as the host target process., (© 2019 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.)

The key to a successful catheterization of the left heart chambers is the safe transseptal puncture. Intracardiac echocardiography (ICE) is an attractive tool used in cardiac catheterization and electrophysiology labs to provide detailed images thatcan facilitate transseptal puncture. ICE permits a direct visualization of the endocardium and precisely locates the needle and the sheath against the interatrial septum. Two different ICE catheters are available: a phased array and a mechanical transducer, both being currently used in clinical practice. This paper describes the technique used for guiding transseptal puncture with ICE. Due to its advantages, ICE has currently become an important tool used to maximize the safety of the transseptal puncture and increase efficacy of interventional cardiology procedures.

The field of cardiac electrophysiology has greatly developed during the past decades. Consequently, the use of electrophysiological studies (EPSs) in clinical practice has also significantly augmented, with a progressively increasing number of certified electrophysiology centers and specialists. Since Zipes et al published the Guidelines for Clinical Intracardiac Electrophysiology and Catheter Ablation Procedures in 1995, no official document summarizing current EPS indications has been published. The current paper focuses on summarizing all relevant data of the role of EPS in patients with different types of cardiac pathologies and provides up-to-date recommendations on this topic. For this purpose, the PubMed database was screened for relevant articles in English up to December 2018 and ESC and ACC/AHA Clinical Practice Guidelines, and EHRA/HRS/APHRS position statements related to the current topic were analyzed. Current recommendations for the use of EPS in clinical practice are discussed and presented in 17 distinct cardiac pathologies. A short rationale, evidence, and indications are provided for each cardiac disease/group of diseases. In conclusion, because of its capability to establish a diagnosis in patients with a variety of cardiac pathologies, the EPS remains a useful tool in the evaluation of patients with cardiac arrhythmias and conduction disorders and is capable of establishing indications for cardiac device implantation and guide catheter ablation procedures., (Copyright © 2018 Hellenic Society of Cardiology. Published by Elsevier B.V. All rights reserved.)

Background Previous genome-wide association studies (GWAS) identified IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 as candidate genes for insulin resistance and type 2 diabetes (T2D). We investigated the associations of these previously reported common variants in these genes with insulin resistance in overweight children from Romania and Moldova. Methods Six single nucleotide polymorphisms (SNPs), IGF1 (rs35767), IRS1 (rs2943634), GCKR (rs780094), PPARG (rs1801282), GCK1 (rs1799884) and KCTD15 (rs29941), were genotyped in 100 overweight children along with clinical and metabolic parameters. Homeostatic model assessment of insulin resistance (HOMA-IR) above 3.4 (defining insulin resistance) was used as the outcome. Results Children differed in insulin resistance status despite having similar body mass index (BMI) standard deviation scores (SDS) (World Health Organization, [WHO] reference). The identified predictors for altered insulin metabolism were higher cholesterol levels, higher diastolic blood pressure and higher waist-to-hip-ratio (as a marker for increased abdominal fat). None of the SNPs showed significant association with increase in the risk for insulin resistance in children (p range=0.478-0.724; odds ratio [OR] range=1.924-4.842); however, the risk allele in GCKR (rs780094, p=0.06, OR=6.871) demonstrated near statistical significance. Conclusions The interrogated risk alleles did not show any significant association with insulin resistance in children in our cohort; however, the GCKR (rs780094) might be a viable candidate in larger cohorts. The lack of replication of the proposed association may point to differences in linkage disequilibrium or effect modifiers across studies.

Few high-performance liquid chromatography⁻tandem mass spectrometry (LC-MS/MS) methods have been developed for the full quantitation of fatty acids from human plasma without derivatization. Therefore, we propose a method that requires fewer sample preparation steps, which can be used for the quantitation of several polyunsaturated fatty acids in human plasma. The method offers rapid, accurate, sensitive, and simultaneous quantification of omega 3 (α-linolenic, eicosapentaenoic, and docosahexaenoic acids) and omega 6 fatty acids (arachidonic and linoleic acids) using high-performance LC-MS/MS. The selected fatty acids were analysed in lipid extracts from both free and total forms. Chromatographic separation was achieved using a reversed phase C18 column with isocratic flow using ammonium acetate for improving negative electrospray ionization (ESI) response. Mass detection was performed in multiple reaction monitoring (MRM) mode, and deuterated internal standards were used for each target compound. The limits of quantification were situated in the low nanomolar range, excepting linoleic acid, for which the limit was in the high nanomolar range. The method was validated according to the U.S. Department of Health and Human Services guidelines, and offers a fast, sensitive, and reliable quantification of selected omega 3 and 6 fatty acids in human plasma.

Introduction: Nowadays, the efforts regarding the prevention of type 2 diabetes mellitus (T2DM) are focused on decreasing overweight, obesity and visceral fat accumulation or percent body fat (PBF) risk factors., Aim: The aim of this study was to investigate whether use of bioelectrical impedance analysis (BIA) for measuring PBF could be a reliable method to improve risk assessment of T2DM. Participants, Materials and Methods: This cross-sectional study performed in 2016 enrolled 341 healthy medical students from western Romania, aged 18 to 44 years old, 143 females and 198 males. Anthropometric measurements, PBF (BIA machine InBody720®) determination, along with the Finnish Diabetes Risk (FINDRISC) assessment form, were performed for each participant., Results: 27.6% of the entire cohort was determined as being overweighed and 12% obese. FINDRISC score showed that 5% from the entire group have a moderate to very high risk to develop T2DM in the following 10 years. FINDRISC score was correlated with waist-to-hip ratio (WHR) and PBF showing strong and positive correlations to both parameters (WHR: 0.477, p<0.001; PBF: 0.561, p<0.001)., Discussions: Our results indicate a stronger correlation between FINDRISC score with PBF compared to FINDRISC and WHR for the entire cohort, and for both males and females., Conclusions: We recommend PBF measured by BIA (respecting quality control procedures) as a potential parameter to be considered into the risk model predictions for T2DM, as it is an accessible and affordable tool to use in the primary level of healthcare.

In this study, we performed uni- and multivariate data analysis on the extended binding curves of several affinity pairs: immobilized acetylcholinesterase (AChE)/bioconjugates of aflatoxin B₁(AFB₁) and immobilized anti-AFB₁ monoclonal antibody/AFB₁-protein carriers. The binding curves were recorded on three mass sensitive cells operating in batch configurations: one commercial surface plasmon resonance (SPR) sensor and two custom-made Love wave surface-acoustic wave (LW-SAW) sensors. We obtained 3D plots depicting the time-evolution of the sensor response as a function of analyte concentration using real-time SPR binding sensograms. These "calibration" surfaces exploited the transient periods of the extended kinetic curves, prior to equilibrium, creating a "fingerprint" for each analyte, in considerably shortened time frames compared to the conventional 2D calibration plots. The custom-made SAW sensors operating in different experimental conditions allowed the detection of AFB₁-protein carrier in the nanomolar range. Subsequent statistical significance tests were performed on unpaired data sets to validate the custom-made LW-SAW sensors.

Background: Genetic information is used very frequently in human identification in civil or judicial cases. Establishing the kinship relationship between a child and his biological father involves many ethical facts. We describe a DNA paternity case with two alleged fathers and an inconsistency between alleged father-2 and the child at D3S1358 locus., Methods: As biological samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). We collected the biological samples from each of person after each person gave the consent. In order to find the concentration of salivary DNA, the DNA samples were quantified by 7500 ABI Real-time PCR using the Quantifiler Human DNA kit (Applied Biosystems, USA). The next step was the amplification of the Salivary DNA samples by polymerase chain reaction (PCR). It was performed on a ProFlex PCR System (Applied Biosystems, USA) using the multiplex STR markers from the AmpFlSTR® Identifiler Plus Amplification Kit (Applied Biosystems, USA). After amplification, the PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (Applied Biosystems, USA)., Results: AF-1 was excluded as biological father. The DNA profiles of AF-2 and the child had one mismatch at D3S1358 locus. Further, we amplified the Y-STR markers to confirm the mutation, obtaining a perfect match between the 2 persons., Conclusions: In paternity testing, where one or two inconsistencies are present between the child and the alleged father on autosomal STR markers, the use of haploid markers X-STR or Y-STRs is needed for the confirmation or exclusion of paternity.

Introduction: the majority of studies of acute gastrointestinal bleeding in children are retrospective, focusing on therapeutic endoscopy. Previous studies performed in adult patients have demonstrated that both scheduled second look endoscopy and high dose continuous omeprazole infusion are effective in the prevention of peptic ulcer rebleeding. The aim of this study was to compare the efficacy of these two strategies using esomeprazole for the prevention of rebleeding following primary endoscopic hemostasis in children with peptic ulcers. The main outcome was to assess the rebleeding rate within 30 days after the initial hemostasis., Methods: consecutive pediatric cases who underwent endoscopic treatment for bleeding peptic ulcers were randomized into two treatment groups following hemostasis. The first group received esomeprazole as an intravenous bolus every 12 hours for 72 hours and a routine second look endoscopy within 12-24 hours with endotherapy retreatment in the case of a persistent stigmata of bleeding. The second group received a continuous high dose esomeprazole infusion for 72 hours without endoscopic reassessment unless required due to rebleeding., Results: a total of 63 children were randomized to the second look endoscopy group and 64 to the esomeprazole infusion group. Rebleeding occurred within 30 days in four patients (6.3%) in the first group and in three patients (4.6%) in the second group (p = 0.7)., Conclusions: a pharmaceutical approach using a high dose continuous esomeprazole infusion in children after an initial endoscopic hemostasis has a similar efficacy compared to second look endoscopy and bolus esomeprazole administration for the prevention of peptic ulcer rebleeding. Thus, the discomfort of a second endoscopy in children can be avoided and is only recommended for selected high risk cases.

Redox-tagged peptides have emerged as functional materials with multiple applications in the area of sensing and biosensing applications due to their high stability, excellent redox properties and versatility of biomolecular interactions. They allow direct observation of molecular interactions in a wide range of affinity and enzymatic assays and act as electron mediators. Short helical peptides possess the ability to self-assemble in specific configurations with the possibility to develop in highly-ordered, stable 1D, 2D and 3D architectures in a hierarchical controlled manner. We provide here a brief overview of the electrochemical techniques available to study the electron transfer in peptide films with particular interest in developing biosensors with immobilized peptide motifs, for biological and clinical applications., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Purpose: We aimed to assess the macular anatomy using spectral domain optical coherence tomography (SD-OCT), in children born preterm who had laser-treated retinopathy of prematurity (ROP), and to investigate the relationship between structural changes in macula and visual function., Methods: Thirty-seven 3-8 years old children were included in the study in two groups: 20 children born preterm [(<34 weeks of gestation, birthweight (BW) <2000 g)] who had laser-treated ROP in the Neonatology Department, Municipal Clinical Emergency Hospital of Timisoara, Romania; and 17 controls (children born at term, without eye disease, matched for age and gender). Spectral domain optical coherence tomography (SD-OCT) imaging (Spectralis OCT) was performed at central fovea and 1 mm nasally., Results: In the ROP group (total 34 eyes), we included both eyes in 14 children, and on one eye in six other children. In the control group, both eyes for all 17 children were included. Central fovea thickness (CFT) was significantly higher in children born preterm and with laser-treated ROP as compared to controls (275 ± 34.8 μm versus 224 ± 27.2 μm; p < 0.001). The laser-treated eyes with ROP had mean best-corrected visual acuity (BCVA) = 0.19 logMAR (20/31 Snellen); 35% had BCVA ≥0.3 logMAR (20/40 Snellen). In receiver operating characteristic curve (ROC) analysis, with BCVA as static variable (category 0 = BCVA ≤0.3 logMAR), the CFT cut-off was 257 μm (sensitivity: 0.917; specificity: 0.661; area under the curve: 0.810, p = 0.001)., Conclusion: Years after the laser intervention, central fovea was significantly thicker in ROP laser-treated children born preterm when compared to controls. Central fovea thickness (CFT) correlated strongly and inversely with BW and gestational age (GA) at birth, while a CFT value above 257 μm was suggestive for suboptimal visual acuity. The proposed cut-off value needs to be validated in future larger studies., (© 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Antidepressant medication influences cellular lipogenesis, being associated with metabolic side effects including weight gain. Due to the increasing use of antidepressants in children and adolescents, their metabolic and endocrine adverse effects are of particular concern, especially within this pediatric population that appears to be at greater risk. Genetic factors with a possible influence on antidepressant's adverse effects include CYP [cytochrome P450 (CYP450)] polymorphisms. We target to evaluate the efficacy of the pharmacogenetic testing, when prescribing antidepressants, in correlation with the occurrence of adverse events and weight gain. Our research was performed between the years 2010 and 2016, in the University Clinic of Child and Adolescent Psychiatry, Timisoara, Romania. We recruited 80 patients, children and adolescents with depressive disorders. Our study sample was divided in two groups: G1 - 40 patients took treatment after pharmacogenetic testing, and G2 - 40 patients without pharmacogenetic testing before the treatment election. Our results show statistically significant differences concerning the weight gain for groups G1 (with pharmacogenetic testing) and G2 (without pharmacogenetic testing). The CYP genotype and the pharmacogenetic testing, for choosing the personalized antidepressant therapy in children and adolescents with depressive disorders, proved to be good predictors for the response to antidepressants and the side effects registered, especially for weight gain. The significant correlations between the CYP polymorphisms for group G2 (without pharmacogenetic testing) and the weight gain/body mass index (BMI) increase, as major side effects induced by antidepressants, proved the fact that the pharmacogenetic screening is needed in the future clinical practice, allowing for individualized, tailored treatment, especially for at-risk pediatric categories.

Gene-nutrient interactions are important contributors to health management and disease prevention. Nutrition can alter gene expression, as well as the susceptibility to disease, including cancer, through epigenetic changes. Nutrients can influence the epigenetic status through several mechanisms, such as DNA methylation, histone modifications, and miRNA-dependent gene silencing. These alterations were associated with either increased or decreased risk for cancer development. There is convincing evidence indicating that several foods have protective roles in cancer prevention, by inhibiting tumor progression directly or through modifying tumor's microenvironment that leads to hostile conditions favorable to tumor initiation or growth. While nutritional intakes from foods cannot be adequately controlled for dosage, the role of nutrients in the epigenetics of cancer has led to more research aimed at developing nutriceuticals and drugs as cancer therapies. Clinical studies are needed to evaluate the optimum doses of dietary compounds, the safety profile of dosages, to establish the most efficient way of administration, and bioavailability, in order to maximize the beneficial effects already discovered, and to ensure replicability. Thus, nutrition represents a promising tool to be used not only in cancer prevention, but hopefully also in cancer treatment.

Over the past decade, matrix-assisted laser desorption/ionization time‑of‑flight mass spectrometry (MALDI‑TOF MS) has been established as a valuable platform for microbial identification, and it is also frequently applied in biology and clinical studies to identify new markers expressed in pathological conditions. The aim of the present study was to assess the potential of using this approach for the classification of cancer cell lines as a quantifiable method for the proteomic profiling of cellular organelles. Intact protein extracts isolated from different tumor cell lines (human and murine) were analyzed using MALDI‑TOF MS and the obtained mass lists were processed using principle component analysis (PCA) within Bruker Biotyper® software. Furthermore, reference spectra were created for each cell line and were used for classification. Based on the intact protein profiles, we were able to differentiate and classify six cancer cell lines: two murine melanoma (B16‑F0 and B164A5), one human melanoma (A375), two human breast carcinoma (MCF7 and MDA‑MB‑231) and one human liver carcinoma (HepG2). The cell lines were classified according to cancer type and the species they originated from, as well as by their metastatic potential, offering the possibility to differentiate non‑invasive from invasive cells. The obtained results pave the way for developing a broad‑based strategy for the identification and classification of cancer cells.

Introduction: Atrial fibrillation is the most common cardiac arrhythmia. The development of electroanatomical mapping is an increase demand for advanced intracardiac imaging techniques of the left atrium and pulmonary veins. IVUS can demonstrate quantitative changes like lumen and wall thickness as well as qualitative changes of the pulmonary wall. IVUS could also provide relevant real time imaging of the atrial and pulmonary venous wall during catheter ablation. Areas covered: The Medline and Embase databases were searched for preclinical and clinical studies of IVUS in patients with ablation of atrial fibrillation or left atrial arrhythmias. This article reviews the 15 years of preclinical and clinical experience with IVUS evaluating the pulmonary veins. Expert commentary: IVUS has proven to be a valuable imaging technique in the management of atrial fibrillation ablation. The understanding of the relation between morphological changes and functional results of catheter ablation, combined with the safety profile have made it appealing for interventionists.

In this study, it was demonstrated that the DNA Chelex extraction combined with the permanganate assisted-oxidation is highly efficient in removing the PCR inhibitors often found in clothing materials, such as phthalocyanine. The extraction assays were conducted in saliva, blood and epithelial cells samples mixed with three oxidation-resistant dye copper(II) α-phthalocyanine, copper(II) β-phthalocyanine and tetrasulfonated copper(II) β-phthalocyanine. After DNA amplification, all samples were able to provide full DNA profiles. The permanganate/Chelex system was tested further on denim-stained samples and displayed the same ability to remove the PCR inhibitors from the commercial textile materials.

Background: Currently, sufficiently accurate field methods for body composition assessment in children are missing. The ultrasound method for assessing adipose tissue thickness has been used extensively in sport medicine. However, there are no studies looking at the reliability of this method in non-athletic children. This paper aims to determine the inter-observer reliability in measuring the uncompressed subcutaneous adipose tissue thickness using ultrasound, in children., Subjects, Materials and Methods: Forty healthy children (20 males, 20 females), median age 11.85 years (5.3 to 18.1 years) were evaluated. Median body mass index standard deviation score (BMI SDS) was -0.13 (-3.9 to 4). Three observers used a Hosand BX 2000 Ultrasonic Adipometer to measure uncompressed subcutaneous adipose tissue thickness at three sites: triceps, subscapular, supraspinale. A single experienced observer used the three sites to also measure the compressed adipose thickness using a skinfold caliper., Results: Individual observer deviations from the mean value of the three observers in adipometer measurement had a standard deviation of 1.74 mm, 92.8% were less than 3 mm. Analysis separated by individual anatomical sites showed high reliability values for triceps: linear regression R²=0.84, p=0.000; intraclass correlation coefficient (ICC)=0.92 and standard error of measurement (SEM)=0.63. The values at supraspinale site were R²=0.82, p=0.000, ICC=0.89 and SEM=1.17, while for subscapular the values were lower: R²=0.79, p=0.000, ICC=0.78 and SEM=1.02. The body fat percentage (BF%) calculated using skinfold measurements was highly correlated with the BF% calculated by the adipometer (R=0.92, R²=0.83, p=0.000). The Pearson's correlation between BMI SDS and BF% calculated from skinfold was R=0.52, R²=0.28, p=0.001, while for the adipometer it was R=0.53, R²=0.27, p=0.000., Conclusions: This novel ultrasound measurement technique can be used with good accuracy and reliability to measure uncompressed subcutaneous adipose tissue thickness in children, sustaining its application for research and clinical purposes, however larger studies are needed.

We approach the theme of modern treatment strategies, based on clinico-biological, pharmacogenetic, neuroimagistic, neuroendocrinological and psychological integrative correlations in the management of depressive and comorbid anxiety disorders. We target to evaluate the efficacy of the pharmacogenetic testing and the evolution, functioning of patients in correlation with specific neurobiological, neuroimagistic and neuroendocrinological markers. Our research was conducted between 2010-2016 on 80 children and adolescents with depressive and comorbid anxiety disorders - 40 children (G1 group), who benefited in choosing the pharmacotherapy from pharmacogenetic testing and 40 children without testing (G2 group). Also, the patients were evaluated through magnetic resonance (MR) spectroscopy at baseline and after pharmacotherapy. The efficacy of the chosen therapy in correlation with the pharmacogenetic testing was evaluated through the mean change in the CDRS (Children's Depression Rating Scale) total scores, in the CGI-S÷I (Clinical Global Impression - Severity÷Improvement), CGAS (Children's Global Assessment Scale) and through the change of the relevant neurobiological markers and MR spectroscopy metabolites. We evaluated the side effects through the PAERS (Pediatric Adverse Events Rating Scale)-Clinician. Our results show statistically significant differences of the clinical scores between the studied groups: for those subjects who benefited of pharmacogenetic testing, the CDRS, the global functioning scores prove a higher clinical improvement, a better compliance and lower PAERS side effects scores and also improvement concerning the MR spectroscopy dosed metabolites values. Our research was a proof sustaining the use of the pharmacogenetic testing in clinical practice and the value of investigating relevant neurobiological, neuroimagistic and neuroendocrinological markers for a personalized therapy in depressive disorders.

Introduction: Prader-Willi syndrome (PWS) is characterized by extensive clinical and genetic variability caused by lack of expression of imprinted genes of the chromosomal region 15q11.2-q13. The genotye-phenotype correlation has not been yet fully elucidated., Aim: To analyze these correlations in order to determine the role of specifi c geneic alterations in the development of clinical symptoms in PWS., Material and Method: We retrospectively analyzed data routinely collected as part of the clinical care of 52 patients with clinical suspicion of PWS. FISH test was performed in all patients; in case of negative results, methylation test was performed., Result: PWS was confi rmed in 35 patients that were divided in two groups according to the genetic cause of PWS: group A-21 patients with 15q11-q13 region deletion, mean age at evaluation 8.1 years (SD= 5.6) and mean of clinical score 9.4 ± 1.8; group B-14 patients with positive methylation test, with mean age at evaluation 6.7 years (SD= 4.6) and mean of clinical score 10.1 ± 1.9. Facial dysmorphism and neonatal hypotonia were present in all evaluated patients; while, higher frequency of major and minor PWS criteria were noted in the group A. Onset of hyperphagia, was around the age of 2 years in most patients, however one patient from group B had normal eating behavior and normal weight beyond age 5 years., Conclusion: In our study, the various genotypes did not seem to explain the diff erence in phenotype in PWS patients. We found a delayed time until diagnosis in these patients, although all had neonatal hypotonia and other suggestive phenotypic features, underlining once more the need for increased awareness of this syndrome, as well as easier accessibility to genetic counseling.

In this paper we review the underlying principles of the surface plasmon resonance (SPR) technique, particularly emphasizing its advantages along with its limitations regarding the ability to discriminate between the specific binding response and the interfering effects from biological samples. While SPR sensors were developed almost three decades, SPR detection is not yet able to reduce the time-consuming steps of the analysis, and is hardly amenable for miniaturized, portable platforms required in point-of-care (POC) testing. Recent advances in near-field optics have emerged, resulting in the development of SPR imaging (SPRi) as a powerful optical, label-free monitoring tool for multiplexed detection and monitoring of biomolecular events. The microarrays design of the SPRi chips incorporating various metallic nanostructures make these optofluidic devices more suitable for diagnosis and near-patient testing than the traditional SPR sensors. The latest developments indicate SPRi detection as being the most promising surface plasmon-based technique fulfilling the demands for implementation in lab-on-a-chip (LOC) technologies.

Objectives: The aim of this study is to assess the functional outcomes registered in patients from the Western part of Romania, who have been treated for retinopathy of prematurity, using a laser diode (810mn)., Materials and Methods: In the current study 52 premature infants with gestational age<34 weeks and a birth weight <2000 grams, 96 eyes in total were included. The functional outcomes were assessed by determining the best corrected visual acuity and refractive error. Statistical analysis used: The data were analysed using the IBM SPSS 20 software. Pearson Correlation was used to assess the strength of the relation between different parameters., Outcomes: For the eyes with the best visual function (BCVA between 0.8 and 1.0), mean gestational age was 29,452 weeks (SD = 1.958), mean weight at birth was 1363.38 grams (SD = 304.655), the mean energy used during treatment was 370.73 mW (SD = 95.972), and the mean number of burns applied was 1470.44 (SD = 581.960). The spherical equivalent ranged between -24.6 D and +3.4 D. High astigmatism (>3.0 D) was found in 26 eyes (27.08 %) and anisometropia in 29 patients (55.77%). There is a strong positive correlation, statistically significant (P<0.001) between best corrected visual acuity and spherical equivalent, and a negative correlation, statistically significant (P=0.001), between best corrected visual acuity and the number of impacts during laser treatment., Conclusion: A long term follow-up is necessary in order to obtain an improvement in the quality of life and visual function of the patients who received laser treatment for retinopathy of prematurity.

Prader-Willi and Angelman syndromes are two distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. PWS results from the lack of the paternally expressed gene contribution in the region. The aim of our study was to compare a new molecular approach based on the quantification of the expression of non-imprinted bi-allelic gene (NIPA1 and OCA2) with in house MS-PCR and the MS-MLPA test. Blood samples were collected from 12 patients, clinical criteria positives for Prader-Willi syndrome. DNA and RNA samples were isolated from white blood cells. Epigenetic changes at SNRPN gene locus were evaluated by MS-PCR technique. The expression levels of two non-imprinted genes (NIPA1 and OCA2) were evaluated in qReal-Time PCR, in order to identify type 1 and type 2 deletions. SALSA MS-MLPA kit ME028 was used to detect copy number changes and to analyze CpG islands methylation of the 15q11 region. MS-MLPA test confirmed that 8/12 patients presented different types of deletion at the SNRPN gene level (promoter, introns, and exons) and 4/8 displayed type 1 or type 2 deletion. In children with 15q11-13 deletions, the decreased level of NIPA1and OCA2 gene expression is related to chromosomal abnormality in the investigated area. The deletions were confirmed by MS-MLPA analysis, thus recommending NIPA1 and OCA2 gene expression as an alternate method to investigate deletions., (Copyright © 2015 Elsevier B.V. All rights reserved.)

We approach an integrated, multidisciplinary, innovative research-action model in children and adolescents with psychosis and ultra high-risk categories. Our main focus was: to investigate the prognostic and clinical significance of neuroimagistic and neurobiological vulnerability markers in correlation with the molecular pharmacogenetic testing in psychoses and ultra high-risk categories; the dynamic evaluation of the clinical evolution for the studied groups in correlation with specific neurobiological and neuroimagistic variables and markers. Our research was conducted in the period 2009-2015 on 87 patients, children and adolescents with psychosis (42 took treatment after pharmacogenetic testing, 45 without) and 65 children with ultra high-risk (UHR) for psychosis - 32 benefited of pharmacotherapy after pharmacogenetic testing and 33 without. Also, the patients were evaluated through magnetic resonance (MR) spectroscopy at baseline and after pharmacotherapy. The efficacy of the chosen therapy in correlation with the pharmacogenetic testing was evaluated through the mean change in the Positive and Negative Syndrome Scale (PANSS) total scores, in the Clinical Global Impression of Severity and Improvement (CGI-S÷I), Children's Global Assessment Scale (CGAS) and through the change registered for the relevant neurobiological markers and MR spectroscopy metabolites, from baseline until endpoint in different timepoints. Our results, showed statistically significant differences of the clinical scores between the studied groups. Our research was a proof, sustaining the use of the pharmacogenetic testing in clinical practice and the value of investigating relevant neurobiological and neuroimagistic markers for a personalized, tailored therapy for psychotic patients and neuro-psychiatric UHR categories, as a fruitful pathway of intervention and care.

Background: Immune system related pathologies affect an increasing number of patients every year, having potentially lethal consequences and requiring expensive and difficult tolerated treatments. This area of pathologies offers an excellent potential for the development of innovative solutions such as nanoformulations; this review aims to describe the main categories of nanostructured drug delivery platforms that have been developed in order to achieve a more effective, low toxic treatment in autoimmune pathologies., Methods: We conducted a systematic search of peer-reviewed original studies focusing on nanoformulations suitable for use against autoimmune disorders. Each study was evaluated by at least two reviewers who applied inclusion and exclusion criteria in order to establish the quality of the research reported in the selected papers. The systematic screening of the literature also identified the most recent patents issued in the field of inflammatory/autoimmune diseases which were included in the current paper., Results: One hundred ninety-seven bibliographic titles were included in the review of which fifty-three recently published patents. Twenty-one papers were selected to define the interaction between nanoformulations and the immune system triggering either immunosuppression or immunostimulation. Thirty-seven papers outlined the characteristics of liposomal formulations that have been reported as treatment for several autoimmune diseases including multiple sclerosis. Twentythree articles provided data on the main lipid nanoparticles of the first and second generation which may include physiological lipids with low cytotoxicity. Gold nanoparticles were described by thirteen papers which highlighted the advantages of the new hybrid organic-inorganic nanoparticles vs. the classical ionic gold compounds. Polymeric nanoformulations were the subject of fifty-nine papers that described their preparation as well as various advantages in the treatment of inflammatory disorders; dendrimers and polymeric micelles were included in the study. Thirty-three studies were selected to outline the benefits provided by the use of cyclodextrins as carriers for active drugs. The review also identified the possibility of producing combined nanoformulations (e.g. polymer/cyclodextrin, liposome/polymer) thus achieving superior therapeutic results., Conclusion: Nanoformulations offer multiple advantages over the classical pharmaceutical formulations, the main ones being the precise targeted therapy with small doses of active drugs, longer circulating time in the bloodstream, and high loading capacity for diagnostic and therapeutic molecules; moreover, the nanoparticles may be functionalized in order to act as nanotheranostics within the larger frame of personalized medicine.

Reproductive failure is one of the most important issues for the population at age of procreation and approximately 15% of the couples who try to conceive a baby encounter reproductive difficulties. In this study, we used multicolor fluorescent in situ hybridization (FISH) probes for chromosomes 13, 18, 21, X and Y to evaluate the aneuploidy incidence in sperm cells. The study group included 35 males with infertility and oligoasthenoteratozoospermia (OAT) and 20 males with normal fertility and normal semen characteristics for which the conventional cytogenetic investigation using peripheral blood revealed a normal karyotype. The overall chromosome disomy and nulisomy in OAT group was higher than the one identified in the control group. By comparing the incidence of the disomy in the OAT group, the highest incidence was the sex chromosome disomy, followed by the disomy of chromosomes 13, 21 (equal values) and then 18. The nulisomy incidence in the OAT group was higher for sex chromosomes, followed by the nulisomy of autosomes 13, then 21 and 18. As in these days, for patients with OAT, intra-cytoplasmic sperm injection (ICSI) is frequently used, it is important to inform the patients if they might have an increased risk of aneuploidies in embryos.

Aim: High-quality national representative data on obesity in Romanian children are needed to shape public health policies. To provide a unified data landscape on national prevalence, trends and other factors associated with underweight, overweight, and obesity in Romanian children aged 6-19 years, across the last decade (2006-2015)., Methods: Using a common protocol, we selected published and unpublished studies that measured Romanian children in schools between 2006 and 2015. Children's BMI was classified using the current WHO, IOTF, and CDC references., Results: 25,060 children from 8 Romanian counties were included in the analysis. The prevalence of underweight children was 5%/4.5%/8.5% (WHO/IOTF/CDC), while the prevalence of overweight (including obese) children was 28.3%/23%/23.2% (WHO/IOTF/CDC). The prevalence of overweight children did not change significantly over the last decade (chi-square test p = 0.6). Male gender (odds ratio (OR) 1.37; 95% CI 1.29-1.45, compared to female); prepubertal age (OR = 3.86; 95% CI 3.41-4.36,compared to postpubertal age), and urban environment (OR 1.12; 95% CI 1.01-1.26, compared to rural environment) had higher risk for overweight., Conclusion: While the prevalence of underweight children was low, almost one in four children in Romania was overweight or obese (according to WHO criteria) between 2006 and 2015. This prevalence remained relatively stable over the last decade. Male gender, prepubertal age, and urban environment, were the most relevant risk factors associated with overweight status in Romanian children., (© 2016 The Author(s) Published by S. Karger GmbH, Freiburg.)

We aim to investigate whether the -759C÷T polymorphism in 5-HTR2C gene was associated with weight change and hyperinsulinemia in Romanian pediatric patients with schizophrenia and bipolar disorders. The patients under investigation were enrolled between 2009 and 2014. A total of 81 schizophrenic and bipolar-disorder patients, aged between nine to 20 years (median age 15.74±4 years), who were following an atypical antipsychotic treatment (Risperidone, Aripiprazole, Olanzapine), were enrolled from University Hospital for Child and Adolescent Psychiatry and Neurology from Timisoara, Romania. The outcomes that we measured were the changes in Body Mass Index (BMI) from baseline to different time points: three months, six months, 12 months and 18 months, and the change in insulinemia over time, after atypical antipsychotic treatment. After carrying out the 5-HTR2C 759C÷T polymorphism identification, we found that 22 patients presented the -759C÷T polymorphism in 5-HTR2C gene. Between the patients exhibiting the 5-HTR2C -759C÷T polymorphism and the patients having the wild type alleles, there was no significant statistical difference in changes of BMI from baseline to endpoints that indicates the lack of the protective effect of the T allele against atypical antipsychotics-induced weight gain. Interestingly, we found a statistically significant association between insulinemia and T alleles' carriers, after 18 months of treatment with the above-mentioned antipsychotics. Taking into consideration that atypical antipsychotics have been associated with elevated insulin levels and insulin resistance, maybe in the future the -759C÷T polymorphism would find a role in the development of a more complex algorithm for prediction of diabetes mellitus risk, in patients taking atypical antipsychotics.

Aims: To provide head circumference references for school-aged children in western Romania, and compare them with references from other European countries., Methods: A total of 2742 children, aged 6-19 years, from Timis county, were examined by medical students, between February 2010-June 2011. Head circumference references were constructed by Cole's LMS method with LMSChartMaker software. The Romanian 3rd, 50th and 97th percentiles for head circumference were compared with recent references from Belgium and Germany., Results: Generally, boys show significantly larger head circumference compared to girls at any age. The head circumference increments between 6 and 19 years are < 1 cm/year. Head circumference increments decrease in increasing age of the children. In girls, adult head circumference is reached at the age of 16 years, whereas head circumference growth continues, in boys, slowly until 18 years. The comparison of Romanian head percentiles with those from Belgium and Germany revealed a smaller head circumference in Romanian children (both girls and boys)., Conclusions: Comparing head circumference references from Romania to those from Germany and Belgium, we found lower median head circumference in Romanian boys and girls, that could be explained by a taller stature of boys and girls in Germany and Belgium compared to Romania.

Left ventricular posterior fascicular tachycardia (LVPFT) is an idiopathic form of VT characterized by right bundle branch block morphology and left axis deviation. The mechanism of LPFVT is thought to be localized reentry close to the posterior fascicle. We present the case of a 24-year-old medical student who was admitted to the emergency department complaining of palpitations. The ECG showed an aspect suggestive of LVPFT. Vagal maneuvers, adenosine and i.v. Metoprolol were ineffective in terminating the arrhythmia. Conversion to sinus rhythm was obtained 10 h later, with i.v Amiodarone. The ECG in sinus rhythm showed left posterior fascicular block. Because antiarrhythmic drugs were not desired by the patient, VT ablation was proposed. The electrophysiological study identified the mechanism of arrhythmia to be reentry using the slowly conducting verapamil-sensitive fibers as the antegrade limb and the posterior fascicle as the retrograde limb. Radiofrequency applications near the posterior fascicle, in the lower half of the interventricular septum, at the junction of the two proximal thirds with the distal third interrupted the tachycardia and made it non-inducible at programmed stimulation. The case is unusual as the patient had a left posterior fascicular block during sinus rhythm before ablation. This demonstrates that the reentry circuit of VT does not need antegrade conduction through the posterior fascicle for perpetuation.

Background: Obesity is a major health burden worldwide. A method of assessing uncompressed subcutaneous adipose tissue thickness (USATT) using ultrasound is widely used in sports medicine. However, studies on the reliability of the method in non-athletic people are lacking. We aim to determine the reliability of the human observer in measuring the USATT in non-athletic people., Material and Method: Two young non-athletic, volunteers, having normal body mass, one male (24 years, BMI=21.6 kg/m2) and one female (31 years, BMI=20.73 kg/m2) were measured by 15 observers, 3 times, in 3 gender specific sites. There were 7 expert observers and 8 novices. We used a Hosand BX 2000 Ultrasonic Adipometer to measure USATT., Outcomes: 91% of the measurement's deviations from the mean were between -4 and 4 mm. Variance of deviation from mean measurements for novices was 5.93 mm, while for experts it was 5.40 mm. Standard error of measurement (SEM) and intraclass correlation coefficient (ICC) for calculated body fat percentage (BF%) (intra-observer SEM=0.78, ICC=0.98; inter-observer SEM=0.45, ICC=0.99) and for all the USATT measurements (intra-observer SEM=0.54, ICC=0.98; inter-observer SEM=0.75, ICC=0.96), showed excellent reliability. The expert observers showed slightly higher ICC and lower SEM values compared to novices., Conclusion: The intra and inter-observer reliability of the adipometer was very good in measuring the USATT. There was no notable difference between expert and novice observers, thus suggesting that the method can be reliably used by anyone after a brief training, for both research and clinical practice.

Background: Ventriculo-atrial (VA) conduction can have negative consequences for patients with implanted pacemakers and defibrillators. There is concern whether impaired VA conduction could recover during stressful situations. Although the influence of isoproterenol and atropine are well established, the effect of adrenaline has not been studied systematically. The objective of this study was to determine if adrenaline can facilitate recovery of VA conduction in patients implanted with pacemakers., Methods: A prospective study was conducted on 61 consecutive patients during a 4-month period (April-July 2014). The presence of VA conduction was assessed during the pacemaker implantation procedure. In case of an impaired VA conduction, adrenaline infusio was used as a stress surrogate to test conduction recovery., Results: The indications for pacemaker implantation were: sinus node dysfunction in 18 patients, atrioventricular (AV) block in 40 patients, binodal dysfunction (sinus node+ AV node) in two patients and other (carotid sinus syndrome) in one patient. In the basal state, 15/61 (24.6%) presented spontaneous VA conduction and 46/61 (75.4%) had no VA conduction. After administration of adrenaline, there was VA conduction recovery in 5/46 (10.9%) patients., Conclusions: Adrenaline infusion produced recovery of VA conduction in 10.9% of patients with absent VA conduction in a basal state. Recovery of VA conduction during physiological or pathological stresses could be responsible for the pacemaker syndrome, PMT episodes, or certain implantable cardiac defibrillator detection issues., (© 2015 Wiley Periodicals, Inc.)

Background: In Romania (latitude 48°15'N to 43°40'N), vitamin D supplementation is common practice mostly in infants 0-1 year old. No published information is available regarding epidemiological data on vitamin D status in the Romanian population for a wide age range and geographical territory. In this context, we aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian population., Methods: 6631 individuals from across Romania had performed 7544 vitamin D assessments (2012-2014) in a chain of private laboratories. Vitamin D (25-hydroxyvitamin D2 and 25-hydroxyvitamin D3) was measured using High Performance Liquid Chromatography. Vitamin D levels were classified as severe deficiency<10 ng/mL, deficiency 10-20 ng/mL, insufficiency 21-29 ng/mL, sufficiency ≥ 30 ng/mL and potentially harmful>100 ng/ml., Results: Male to female ratio was 1:2.9. Age ranged from 0 to 85 years. Mean vitamin D levels increased from April (26.3n g/ml) to September (35.6 ng/ml) and decreased from October (33.5 ng/ml) to March (24.4 ng/ml). Overall 40% had sufficient vitamin D, while the rest were insufficient 33%, deficient 22%, severely deficient 4% and 1% potentially harmful (of them 81% under 1 year old). Males compared to females showed higher percentages of sufficiency (47% vs. 38%). Children 0- 2 years presented the highest percentage of vitamin D sufficiency (77%). Lowest percentages (21%) of sufficiency were in people 80-84 years., Conclusion: In Romania, suboptimal vitamin D levels are common (59%), especially in older age, wintertime and in women. Vitamin D supplementation would be most warranted from January to April in the Romanian population. 25-hydroxyvitamin D levels > 100 ng/ml were relatively prevalent in children 0-1 year old (17.3%). This was attributed to supplementation errors and the fact that high-risk individuals were more likely to visit for medical check-up. Nonetheless, it stresses the need to increase awareness of the importance of preventing Vitamin D supplementation administration errors in the young.

We report a Love wave surface acoustic wave (LW-SAW) immunosensor designed for the detection of high molecular weight targets in liquid samples, amenable also for low molecular targets in surface competition assays. We implemented a label-free interaction protocol similar to other surface plasmon resonance bioassays having the advantage of requiring reduced time analysis. The fabricated LW-SAW sensor supports the detection of the target in the nanomolar range, and can be ultimately incorporated in portable devices, suitable for point-of-care testing (POCT) applications.

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

Worldwide, oral cancers represent the 6th most common type of cancer. Oral squamous cell carcinoma (OSCC), which is the most common type of oral cancer, is present in about 90% of the patients with this malignancy. OSCC presents a survival rate up to 80%, if it is detected in an early stage (T1), but if detected at later stages (T3 - T4) the survival rate decreases to 20 - 30%. Due to these survival rates, it is obvious that there is an urgent need to introduce new molecular biomarkers for the early, noninvasive diagnosis of oral cancers from saliva. These biomarkers will aid in increasing the survival rate of the patients for the long-term. MicroRNAs are part of a class of small, non-coding RNAs that contain 19 - 23 nucleotides. MicroRNAs play an important role in the regulation of biochemical mechanisms, cell proliferation, and other cellular mechanisms in the human body. Recently, due to the developments in the field of molecular genetics, salivary microRNAs became important biomarkers in early detection and monitoring of oral cancers by noninvasive methods. We want to present in this review the most important genetic and epigenetic biomarkers involved in oral carcinogenesis, focusing especially on the salivary microRNAs as biomarkers in early diagnosis of OSCC.

Objective: To measure distances between pulmonary veins (PV) and mitral annulus (MA) using angiographic computed tomography (CT) and to compare them with the left atrial appendage-MA (LAA-MA) line., Materials and Methods: Data from 46 catheter ablation procedures for atrial fibrillation involving 36 males, mean age 53 years, range 27-78 years, were analyzed. Three types of mitral isthmus lines were measured using angiographic CT images integrated in the CARTO 3 system (Biosense Webster): the distance between the right superior PV and MA (RSPV-MA), the right inferior PV and MA (RIPV-MA), and the left inferior PV and MA (LIPV-MA). They were compared with the length of the LAA-MA line., Results: The mean value of LIPV-MA was 29 ± 11.2 mm, RIPV-MA 39 ± 8.2 mm, and RSPV-MA 48 ± 8.2 mm. The circumflex artery (CxA) and the coronary sinus (CS) were closest to the LIPV-MA line. Compared with the three isthmus lines, the LAA-MA was the shortest (24.7 ± 15.6 mm), and the difference was statistically significant (p < 0.05)., Conclusion: The angiographic CT provided detailed information regarding the anatomy of the left atrium and distances between atrial structures. The LAA-MA was shorter than the other three lines with the CxA and CS situated at a distance., (© 2015 S. Karger AG, Basel.)