Single Nucleotide Polymorphisms in and Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity.

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.

Primary immunodeficiencies in Central and Eastern Europe-the power of networking Report on the activity of the Jeffrey Modell Foundation Centers Network in Central and Eastern Europe.

Jeffrey Modell Foundation centers' network activities in Central and Eastern Europe (JMF CEE) have contributed to the development of care for patients with primary immunodeficiencies. On the data continuously collected from individual centers in participating countries since 2011, we demonstrate a steady improvement in a number of aspects concerning complex care for patients with primary immunodeficiencies. The presented data show an improvement of awareness about these rare diseases across the whole Central and Eastern European region, an increase in newly diagnosed patients as well as genetically confirmed cases, earlier establishment of diagnosis, and improved access to clinical treatment.

Assessment of Nutritional Intakes in Individuals with Obesity under Medical Supervision. A Cross-Sectional Study.

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.

A randomized controlled trial for overweight and obesity in preschoolers: the More and Less Europe study - an intervention within the STOP project.

Background: Childhood overweight and obesity is a serious public health issue with an increase being observed in preschool-aged children. Treating childhood obesity is difficult and few countries use standardized treatments. Therefore, there is a need to find effective approaches that are feasible for both health care providers and families.

Unusual anatomical variation: tetrafurcation of the celiac trunk.

The celiac trunk is one of the main sources of vascularization of the supracolic abdominal compartment. It arises from the abdominal aorta, at the level of T12-L1 vertebrae and classically branches into the splenic artery, common hepatic artery, and left gastric artery. We report here an atypical branching pattern of the celiac trunk, found during the dissection of a 60-year-old female's formalin-fixed cadaver.

Relative and absolute within-session reliability of the modified Star Excursion Balance Test in healthy elite athletes.

Background: The Star Excursion Balance Test (SEBT) is commonly used to assess dynamic postural balance both in clinical practice and research. The aim of our study was to assess the within-session relative and absolute reliability of participants' performance of the modified SEBT (mSEBT) using a single practice trial in healthy elite athletes who were familiar with the test.

Methods: An intra-session repeated-measures design was used to investigate the relative and absolute reliability of participants' (healthy athletes partaking in sports at a high-risk of ankle sprain injury) performance of the mSEBT.

Toxoplasmosis Seroprevalence in Romanian Children.

The seroprevalence of in Romanian children is currently unknown. A serological survey was undertaken to determine infection among children from Western Romania. Serum samples of 441 children (aged 1-18 years) were screened for immunoglobulin G and immunoglobulin M antibodies.

No clinical utility of common polymorphisms in IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 genes previously associated with insulin resistance in overweight children from Romania and Moldova.

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.

Development and Validation of a LC⁻MS/MS-Based Assay for Quantification of Free and Total Omega 3 and 6 Fatty Acids from Human Plasma.

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.

A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings.

Objective: We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).

Case Report: A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.

Type II pleuropulmonary blastoma in a 2-year-old girl: a case report.

Pleuropulmonary blastoma (PPB) is a very rare, malignant aggressive primary lung tumor, which occurs mainly in children less than 5 years old. Due to its poor prognosis, it is aggressively treated with multimodal therapy including surgery and chemotherapy. We present a case of PPB in a 2-year-old girl who was brought to the pediatric clinic for fever, cough and respiratory distress.

Multidrug-Resistant Gram-Negative Bacilli: A Retrospective Study of Trends in a Tertiary Healthcare Unit.

Bacterial multidrug resistance is particularly common in Gram-negative bacilli (GNB), with important clinical consequences regarding their spread and treatment options. The aim of this study was to investigate the trend of multidrug-resistant GNB (MDR-GNB) in high-risk hospital departments, between 2000⁻2015, in intervals of five years, with the intention of improving antibiotic therapy policies and optimising preventive and control practices. This is an observational, retrospective study performed in three departments of the most important tertiary healthcare unit in the southwestern part of Romania: the Intensive Care Unit (ICU), the General Surgery Department (GSD), and the Nutrition and Metabolic Diseases Department (NMDD).

Prevalence and Risk Factors of Amblyopia among Refractive Errors in an Eastern European Population.

Amblyopia is the leading cause of visual impairment in children and adults and is very common during childhood. The aim of this study was to identify the prevalence and the risk factors of amblyopia in a pediatric population with refractive errors from an Eastern European country. A total of 1231 children aged 5⁻16 years, who had refractive errors and were examined from January to August 2017, were enrolled in a cross-sectional population-based study.

HYDROCEPHALY, SCHIZENCEPHALY, SPONDYLOCOSTAL DYSPLASIA, AND HYPOPARATHYROIDISM IN AN INFANT OF A DIABETIC MOTHER.

Context: Diabetes mellitus is the most frequent chronic complication in pregnancy and continues to contribute to increased perinatal morbidity and mortality in newborns. Macrosomia, respiratory distress syndrome, metabolic and electrolytic disturbances, and increased rates of congenital structural defects are well-known neonatal complications associated with maternal diabetes, even if well-controlled.

Case Report: A macrosomic infant born from an insulin-dependent mother, with uncontrolled diabetes and lack of adequate prenatal care, prenatally diagnosed with hydrocephaly showed a complicated postnatal course.

Clinical relevance of retinal structure in children with laser-treated retinopathy of prematurity versus controls - using optical coherence tomography.

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.

Vascular aging and subclinical atherosclerosis: why such a "never ending" and challenging story in cardiology?

The true onset of atherosclerosis remains one of the biggest challenges for cardiologists. Is atheroma plaque development considered the earliest step of vascular aging? If so, when it starts? Before or after birth? If it starts before birth or early during childhood, it seems that Thomas Sydenham was right: "A man is as old as his arteries." Except disorganization of elastic fibers, less is known about the morphology of vascular aging and also about the molecular events influencing the age of arteries, arterial stiffness, and their role in the appearance of future complications.

THYROID DYSFUNCTION IN AN AIDS PATIENT.

Objective: Highly active antiretroviral therapy (HAART) is involved in the potential pathogenic mechanisms linking thyroid autoimmunity with immune restoration.

Unlabelled: The objective is to emphasize the emergence of autoimmune thyroid disease in a HIV patient long period after restoration of immune competence, unlinked to the immune reconstitution inflammatory syndrome (IRIS) occurring shortly after HAART initiation.We report a case of acute autoimmune thyroiditis with thyrotoxicosis in a patient with stage C3 HIV infection, who had been under HAART for more than 7 years.

Natural history and clinical characteristics of inhibitors in previously treated haemophilia A patients: a case series.

Background: Development of inhibitors is the most serious complication in haemophilia A treatment. The assessment of risk for inhibitor formation in new or modified factor concentrates is traditionally performed in previously treated patients (PTPs). However, evidence on risk factors for and natural history of inhibitors has been generated mostly in previously untreated patients (PUPs).

A particular case of cytomegalovirus infection in infancy.

Unlabelled: The clinical spectrum of perinatal infection varies from asymptomatic infection or mild disease to severe systemic involvement. The aim of this paper is to present a severe intrauterine infection, which led to difficulties in diagnosis and unfavorable evolution.

Case Presentation: M.

Efficacy and safety of a VWF/FVIII concentrate (wilate ) in inherited von Willebrand disease patients undergoing surgical procedures.

Introduction: Surgical procedures in von Willebrand disease (VWD) patients may require prophylactic treatment with exogenous von Willebrand factor (VWF) and coagulation factor VIII (FVIII) to prevent excessive bleeding. Wilate is a plasma-derived, double virus-inactivated, highly purified, freeze-dried VWF/FVIII concentrate, containing both factors in a physiological activity ratio of 1:1.

Aim: To investigate the efficacy and safety of wilate in maintaining haemostasis in VWD patients undergoing surgical procedures.

Reliability of Measuring Subcutaneous Fat Tissue Thickness Using Ultrasound in Non-Athletic Young Adults.

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.

Vitamin D Status: A Different Story in the Very Young versus the Very Old Romanian Patients.

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.