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Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes. [ABSTRACT FROM AUTHOR]

Introduction: Iron deficiency (ID) is one of the most common causes of anemia in children. Although it is frequently encountered in a clinician's daily practice, the multifactorial etiology of ID still represents a challenge in terms of long-term management. In overweight and obese children, adiposity related inflammation causes ID by decreasing transferrin saturation on one hand and by increasing hepcidin production on the other hand, which in turn decreases iron absorption. Dietary uptake of iron and other micronutrients is also impaired in these children. Aim of the study: To investigate the link between overweight, obesity and iron deficiency in pediatric patients. Materials and methods: A retrospective observational study was conducted over a 1-year period (1st April 2018-31th March 2019), in the Endocrinology Department of "Louis Turcanu" Children's Emergency Clinical Hospital Timisoara. After applying the inclusion criteria, a total of 78 overweight and obese children were enrolled in the study. The Ethics Committee of the "Louis Turcanu" Children's Emergency Clinical Hospital approved the study. Results: The CDC BMI- charts matched for age and sex were used in order to define overweight and obesity (overweight 85th - 95th and obesity > 95th percentiles). According to age patients were divided in 3 groups: toddlers 6% (age 1-5 years); preadolescents 40% (age 5-12 years) and adolescents 54% (age 12-18 years). Overall, the overweight/ obesity ratio in the studied groups was as follows: 20:80 in toddlers, 13:87 in preadolescents and 45,6:54,4 in adolescents. The highest percentage of ID- patients was found in toddlers (60%), followed by preadolescents with half as much patients (32%), and the lowest percentages was observed in adolescents (14%). Although there was a correlation between iron levels and BMI throughout our sample, these obese and overweight children did not associate significant anemia. Conclusions: The negative correlation between BMI and iron levels, even in the absence of anemia, should raise awareness with regard to the micronutrient imbalance that exists in these children from a very young age. Children with elevated BMI may need to be screened for iron deficiency. There is an acute need to expand the studies to establish the cause of ID among children and adolescents. [ABSTRACT FROM AUTHOR]

Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. Aims: This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy. Methods: A survey was performed among health care professionals who use the International DSD Registry (I-DSD). Results: Data were provided from 22 centres in 16 countries on 166 women (CAIS) and 26 men (PAIS). In CAIS, gonadectomy was recommended in early adulthood in 67% of centres; 19/166 (11.4%) women refused gonadectomy. Among 142 women who had gonadectomy, evidence of germ cell neoplasm in situ (GCNIS), the precursor of GGCC, was reported in 2 (1.4%) out of 8 from whom pathology results were formally provided. Nine out of 26 men with PAIS (34.6%) had retained gonads; 11% of centres recommended routine gonadectomy in PAIS. Conclusion: Although development of GGCC seems rare, gonadectomy after puberty is broadly recommended in CAIS; in PAIS this is more variable. Overall, our data reflect the need for evidence-based guidelines regarding prophylactic gonadectomy in AIS. [ABSTRACT FROM AUTHOR]

Background: The first line of defence against oxidative stress (OS) are the endogenous antioxidants, such as the Se containing compounds. During pregnancy, OS is caused by the intense growth activity of the fetus; therefore, the placenta is a key place for the activity of many seleno-compounds such as glutathione-peroxidase and thioredoxinreductase. Methods: This review aims to establish the link between the type of selenium compounds, their concentration, their metabolic pathways, and their role in both physiologic and pathologic processes during pregnancy. Results: A review of current literature establishes that Se containing compounds have a strong antioxidant effect. The limits that define deviations from the normal concentration range of selenium are very close. Both selenium deficiency and excess have an effect on human health. It is well known that oxidative stress, namely the increase in the concentration of reactive species of oxygen and nitrogen (ROS and RNS) and the disruption of cellular redox homeostasis, are responsible for a number of inflammatory, degenerative, autoimmune, and neoplastic diseases. Selenium deficiency in the pregnant woman's body is considered a risk factor for immune deficiency, PIH, spontaneous abortions, and premature birth. In regard to the fetus, while there seems to be a certain protection against selenium-induced toxicity, studies have shown that selenium defficiency leads to IUGR and SGA newborns. Also, combined deficiency of selenium and iodine has been linked to endemic cretinism in newborns. Conclusions: The antioxidant role that selenium performs through selenoproteins is major. Selenium-containing proteins, especially glutathione peroxidase, as antioxidant enzymes, are involved in regulating the ROS and RNS levels and redox balancing in almost all tissues. Among the multiple benefits of selenium in optimal concentrations in the body are stimulation and support of female fertility, as well as good development of the fetus. Hypertensive pathologies that occur in one of ten pregnant women, especially during the second part of the gestation period, are largely due to selenium deficiency. [ABSTRACT FROM AUTHOR]

Background/Aims Gastroesophageal reflux disease (GERD) is a frequent condition diagnosed in children and treated with proton pump inhibitors (PPI). Long-term PPI administration can alter intestinal bacterial population by suppressing the gastric acid barrier and may cause diarrhea. The aim of this study is to evaluate the prevalence of small intestinal bacterial overgrowth assessed by glucose hydrogen breath test among children that received 12 weeks of PPI with or without probiotics (Lactobacillus reuteri DSM 17938) associated, compared to controls. Methods Glucose hydrogen breath test was performed before PPI treatment and after 12 weeks of PPI treatment to 128 consecutive children with GERD (1-18 years old) and a control group (120 healthy children). The children with GERD were randomized into 2 groups: placebo group (64 who received PPI and placebo for 12 weeks) and probiotics group (64 who received PPI and probiotics for 12 weeks). Results After 12 weeks of treatment, dysbiosis was detected among 56.2% of children from placebo group (36/64), compared to 6.2% of children from the probiotics group (4/64, P < 0.001). Bacterial overgrowth was detected in 5% of controls (6/120). Probiotics group had a lower prevalence of dysbiosis, similar to controls (P = 0.740). Conclusion Probiotics administration decreased the rate of dysbiosis among children treated with PPI. [ABSTRACT FROM AUTHOR]

Introduction: Celiac disease (CD) is defined by gluten-induced immune-mediated enteropathy, affecting approximately 1% of the genetically predisposed population. The immunologic response to gluten causes characteristic intestinal alterations with gradual development. Histologic recovery of intestinal architecture was reported to occur within 6-12 months after starting a gluten-free diet, simultaneously with clinical remission. The aim of this study was to assess the rate and timing of histologic recovery among children with CD on a gluten-free diet, diagnosed and followed in an academic referral pediatric center during a 10-year period.Material and methods: 105 biopsy-confirmed CD children underwent follow-up small intestinal biopsies within at least 1 year after dietary gluten withdrawal. Further biopsies were performed if villous alterations were persistent. The Marsh classification modified by Oberhuber was used to score the histologic injuries.Results: In all 19 cases with Marsh type II at diagnosis, villous alterations normalized to Marsh type 0 within the first year. From 86 children enrolled with Marsh type III lesions, histologic remission was observed in 81.4% after 1 year, 91.8% within 2-3 years and 97.6% in long-term follow up (≥ 3 years). Two (2.3%) patients with concomitant selective IgA deficiency had symptoms of malabsorption and persisting villous atrophy lasting more than 3 years despite a gluten-free diet. There was a significant statistic difference between the proportion of children with Marsh type IIIA, type IIIB and Marsh type IIIC respectively that achieved histologic recovery within 1 to 2 years after gluten withdrawal. There were more children with partial 25 (92.6%) and subtotal villous atrophy 30 (88.2%) showing histologic improvement, compared to only 15 (60%) patients with total villous atrophy that recovered within the first 2 years of diet (p = 0.01 and p = 0.02 respectively).Conclusions: Histologic recovery in CD after starting a gluten-free diet in children takes at least 1 year and might be incomplete only in a small proportion of children, mainly associated with IgA immunodeficiency. Systematic follow-up of children with CD and persistent malabsorption syndrome is needed in order to avoid secondary complications. [ABSTRACT FROM AUTHOR]

Background: The increasing rate of obesity and overweight among children has highlighted nonalcoholic fatty liver disease (NAFLD) as the most common cause of chronic pediatric liver diseases. There are many publications supporting the idea that gut microbiota is altered in NAFLD. The aim of this study was to evaluate the prevalence of NAFLD among overweight and obese children with and without small intestinal bacterial overgrowth (SIBO) compared to a control group and to assess if intestinal dysbiosis represents a risk factor for NAFLD. Methods: One hundred and twenty-five overweight and obese children aged 10-18 years and 120 controls matched for age and gender were enrolled. SIBO was assessed by glucose hydrogen breath test (GHBT) in all subjects. NAFLD was assessed in all children using abdominal imaging and laboratory findings. Results: Of 125 obese children enrolled, 47 (37.6%) presented intestinal dysbiosis and 78 (62.4%) were SIBO negative. Only four (3.3%) controls were SIBO positive. NAFLD was detected in 28/47 (59.5%) of the SIBO positive obese group, compared to 8/78 (10.2%) of the SIBO negative obese group (p < 0.001) and 0/120 (0%) controls (p < 0.001). Children from the SIBO positive obese group had higher rates of elevated aminotransferases levels: aspartate aminotransferases (ASAT) (53.1% vs. 6.4%; p < 0.001) and alanine aminotransferase (ALAT) (59.5% vs. 7.6%; p < 0.001), hypertension (23.4% vs. 5.1%; p = 0.002) and metabolic syndrome (44.6% vs. 9%; p = 0.002) compared to the SIBO negative obese group. Conclusions: Obese children with SIBO have an increased risk for developing NAFLD. The relationship between intestinal dysbiosis and diet can influence the gut-liver axis. [ABSTRACT FROM AUTHOR]

Gabriela, 8 years old, was admitted in the 1st Pediatric Clinic, Timisoara for the evaluation of cholestasis syndrome. She was known with hypotonic cerebral palsy, epilepsy with polymorphic seizures partial controlled by anticonvulsants and 5 atraumatic leg fractures occurred in the last 3 years. At admission, she had pale skin, absent subcutaneous tissue and muscle atrophy with muscle atrophy. She had splint cast in the left lower limb and pseudoarthrosis in the 1/3 distal of the right leg. The biological investigations revealed normal liver enzymes except alkaline phosphatase, an abnormal coagulation and bone markers and the presence of starch and fiber in the stool, while the other tests were normal. The radiography of extremities showed osteolysis injuries and old left clavicle, upper third diaphysis of left humerus and femur and lower third diaphysis of right tibia fractures, with vicious callus secondary to Osteogenesis Imperfecta. We considered that all these fractures were manifestations of osteoporosis secondary to malabsorption syndrome, malnutrition, vitamin D and K deficiencies, chronic anticonvulsant therapy and Osteogenesis Imperfecta. The evolution was favorable under treated with calcium gluconate, vitamin D and K with the reduction of alkaline phosphatase and normalization of coagulation. The initiation of bisphosphonate therapy was taken into account. Case particularity: The association of osteoporosis and Osteogenesis Imperfecta responsible for the production of fractures in a patient with cerebral palsy and epilepsy. [ABSTRACT FROM AUTHOR]

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract and retinal detachment. It can also cause hearing loss that is both conductive and sensorineural. Under-development of the middle part of face, ogival palate, spondylo-epiphyseal dysplasia and/or precocious arthritis can also occur. The authors present the case of a 7 months old infant with failure to thrive associated to a particular phenotype; facial dysmorphism and congenital cataract, who was referred for admission presenting an upper respiratory tract infection. Corroborating the clinical examination with the paraclinical evaluation and genetic assessment, including the karyotype, the authors established in this case the diagnosis of Stickler syndrome. [ABSTRACT FROM AUTHOR]

Background/Aims: Newborn screening for congenital adrenal hyperplasia (CAH) is generally performed using 17- hydroxyprogesterone dissociation-enhanced, lanthanide fluorescence immunoassay (DELFIA®). The primary screening results must be confirmed due to high false-positive rates; however, the need to obtain a separate specimen can hamper early recognition, differential diagnosis and treatment. We aimed to develop a single liquid chromatography-tandem mass spectrometry (LC-MS/MS) method that allows both the confirmation and differential diagnosis of CAH using the same dried blood spot (DBS) as in primary screening. Methods: An LC-MS/MS assay for cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone was developed, validated and applied to a total of 163 DBS samples tested positive in primary newborn screening in a cross-border cooperation. Results: Excellent baseline resolution and reliable determination of all analytes were achieved in DBS samples following simple sample preparation without derivatization. Of a total of 163 DBS samples tested positive in primary screening, the 21-hydroxylase-deficient form of CAH was confirmed in 1 sample. Conclusions: The present LC-MS/MS assay was successfully applied as a second-tier test in a cross-border cooperation for newborn screening. The assay allows concurrent confirmation and differential diagnosis of CAH and can be performed on the same DBS samples as in primary screening, enabling early diagnosis and treatment. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Lipoid nephrosis or idiopathic nephrotic syndrome (INS) is a syndrome characterized by an increase in glomerular permeability followed by massive proteinuria, hypoproteinemia, hypogammaglobulinemia and dyslipidemia. Clinical expression of these biological changes is the installation of massive edema and oliguria. INS etiology is currently unknown but numerous studies are pointing out the connection between INS and atopic diatheses. Based on this finding some authors have tried a diet of exclusion which resulted in decreased proteinuria but not significantly reduced the number of relapses. The link between diet and altered intestinal permeability and the decisive role of diet in the regulation of intestinal microflora and the modulation of intestinal and systemic inflammatory response is currently demonstrated by many authors. The presence in serum of patients with INS of antibodies to food, either IgE, or IgG4 may be considered a marker of increased intestinal permeability, local inflammation and intestinal microbiota disturbance. In our experience, exclusion from the diet of patients with INS of gluten, dairy products and of food for which there is an immune response (sIgE or sIgG4) resulted in a rapid decrease of proteinuria, allowed us to reduce the total length of corticosteroid therapy and prevented relapse of the illness over a period of one year. Changing the treatment protocol from administration of anti-inflammatory medication (glucocorticoid drugs) to restoration of a balanced intestinal microbiota, improvement of intestinal permeability and modulation of the gut inflammatory response must be the primary objective in the management of the child INS. [ABSTRACT FROM AUTHOR]

A 7 year old patient known from his medical history with visual impairment from the age 2 years and 6 months, which have progressed once the child began school. Careful examination revealed the presence of a tumor formation with selar location, which proved to be craniopharyngioma. Postoperative evolution was relatively good, but a redoubtable complication appeared, namely diencephalic obesity. [ABSTRACT FROM AUTHOR]

The aim of the present paper was to review the most important mechanisms explaining the possible association of vitamin D deficiency and cardiovascular diseases, focusing on recent experimental and clinical data. Low vitamin D levels favor atherosclerosis enabling vascular inflammation, endothelial dysfunction, formation of foam cells, and proliferation of smooth muscle cells. The antihypertensive properties of vitamin D include suppression of the renin-angiotensin-aldosterone system, renoprotective effects, direct effects on endothelial cells and calcium metabolism, inhibition of growth of vascular smooth muscle cells, prevention of secondary hyperparathyroidism, and beneficial effects on cardiovascular risk factors. Vitamin D is also involved in glycemic control, lipid metabolism, insulin secretion, and sensitivity, explaining the association between vitamin D deficiency and metabolic syndrome. Vitamin D deficit was associated in some studies with the number of affected coronary arteries, postinfarction complications, inflammatory cytokines and cardiac remodeling in patients with myocardial infarction, direct electromechanical effects and inflammation in atrial fibrillation, and neuroprotective effects in stroke. In peripheral arterial disease, vitamin D status was related to the decline of the functional performance, severity, atherosclerosis and inflammatory markers, arterial stiffness, vascular calcifications, and arterial aging. Vitamin D supplementation should further consider additional factors, such as phosphates, parathormone, renin, and fibroblast growth factor 23 levels. [ABSTRACT FROM AUTHOR]

Introduction: Necrotising enterocolitis (NEC) is an acquired gastrointestinal disease associated with significant morbidity and mortality in preterm newborns. Taking into account the catastrophic development of this disease, it is necessary to focus research on prevention strategies and identify predictive risk factors for its occurrence. Aim: The aim of this study was to determine the incidence of NEC and to identify the main risk factors associated with NEC in preterm infants with gestational age(GA) ≤32 weeks admitted to neonatal intensive care units(NICUs) in Romania. Material and methods: This was a retrospective study based on the data collected in a standardised format for all preterm infants with GA ≤32 weeks born over a period of 2 years (January 2010-december 2011) and admitted to 12 tertiary-level NICUs in Romania. It was used data registered in the National Registry of Neonatal Respiratory Distress (NRNRD). A diagnosis of NEC was made based on clinical, radiological and/or histopatological evidence of stage II or III, acording to Bell's criteria. Logistic regression analysis was performed to determine the significant risk factors associated with NEC. Results: There were 1696 neonates under 32 weeks of gestation that met inclusion criteria; 1605 did not have NEC, while 91(5,3%) met criterion for NEC. Lenght of hospital stay and mortality were higher in neonates with NEC than those without NEC. Logistic regression analysis showed that smal for gestational age(SGA) and nosocomial infections were the most important risk factors for NEC. Other factors that were associated with an increased risk of NEC were bronchopulmonary displasia (BPD), use of nasal continuos positive airway pressure (CPAP), sepsis, apnea of prematurity, the lack of antenatal glucocorticoids and outborn pacients. Male gender and PDA were not statistical significantly correlated with NEC (borderline statistical significance). Conclusions: The incidence of NEC was higher in this study (5,3%). Low birth weight, nosocomial infections, BPD, CPAP, apnea and lack of antenatal glucocorticoids were associated with an increased risk of NEC in Romanian preterm infants under 32 weeks of gestation. Male gender and PDA were not statistical significantly correlated with NEC (at the limit of statistical significance). [ABSTRACT FROM AUTHOR]

Aim. To assess how children requiring endotracheal intubation are mechanically ventilated in First Pediatric Intensive Care Unit (PICU), Timisoara. Material and methods. A four years observational study (January 2010 - December 2012) was conducted in the Fist PICU of Emergency Hospital for Children "Louis Turcanu" Timisoara and included all mechanically ventilated children > 24 hours, aged 0-18 years. Results. One hundred eight patients met the inclusion criteria. The mean age of the patients was 27 months and median duration of mechanical ventilation was 9 days. The mean PRISM III score on admission was 17. The mean duration of mechanical ventilation was 9.36 days. Major indication for mechanical ventilation was acute respiratory failure. We used pressurelimited conventional modes of ventilation. Mean peak inspiratory pressure (PIP) values were constant < 30 cmH2O, with 12% of the patients having a maximum PIP > 30 cmH2O, but < 35 cmH2O. There was little variability with positive end-expiratory pressure (PEEP) choice, with a mean value of 5 cmH2O. Mean levels of tidal volume (VT) was 8.16 ml/kg, and medium inspiratory fraction of oxygen (FiO2) was < 0.6. Arterial blood gases analyses showed normo- and hypocapnia. Sixty-seven percent of the patients fulfilled the oxygenation criteria for ARDS, but only half of them had bilateral pulmonary infiltrates. No mechanical complication as pneumothorax was noted. Ventilator associated pneumonia was encountered in 39% of patients. A total of 34 (32%) children died. Conclusions. Pressure ventilation modes were standard in our PICU. Describing the standard care and how mechanical ventilation is performed in children can be useful for future clinical trials. [ABSTRACT FROM AUTHOR]

Objectives: To emphasize the negative role of chronic kidney disease in impaired growth and development of a female 7 year old patient, with chronic renal failure associating sexual developmental disorder - adrenogenital syndrome. Methods: The patient came to monthly follow-ups for the evaluation of her the anthropometric, nutritional and biological status. She was treated with a replacement therapy comprising of growth hormones and cortisone. Results: The girl was diagnosed at birth with polycystic kidney disease and sexual development disorder, karyotype 46XX - adrenogenital syndrome, salt-losing form. Cortisone replacement therapy was initiated in the neonatal period, under hormonal monitoring. At the age of 4 she had a creatinine clearance (Schwartz formula) of 17 ml/min/m2, height: H2009 = 83 cm, weight: W2009 = 8 kg and the therapy with growth hormones was initiated. In the following years, the increase in height was 12 cm and in weight 3 kg (H2010 = 95 cm, W2010 = 11 kg), while requiring the initiation of peritoneal dialysis. Currently, H2013 is 104 cm and W2013 is 13 kg. Conclusions: Progression of chronic kidney disease causes retardation of growth and development by: inadequate production of erythropoietin with secondary anemia, bone and mineral disease secondary to renal dysfunction, chronic metabolic acidosis and disruption of the hypothalamic-pituitary growth hormone axis. Adrenogenital syndrome association is an additional factor for impaired growth and development. [ABSTRACT FROM AUTHOR]

Introduction/background: The constant global rise in the occurrence of overweight and obesity among all ages is accompanied by a higher incidence in serious health risks, such as type 2 diabetes, asthma, and the growth of cardiovascular diseases, which is now potentially present at an early age. Aims: To examine correlation and differences of overweight in school-aged children (10-13 years old-yo) according to their health lifestyle factors and depending on demographic repartition in our district, using two materials (Raport DSP 2008-2009 and Timiș Save the children survey 2010-2011). Material and methods: A cross-sectional survey including pupils (n= 1003, 7-17 yo) from the Timis county was carried-out. Height and weight were measured and a questionnaire regarding nutritional behavior was completed. Results were compared in terms of Rural/Urban appurtenance by sex and age compared with the median 10-13 yo from our group (585 children) and Timișoara 6th grade pupils (1220 children). We use CDC Atlanta BMI charts and Excel analysis. Results: From rural group, girls medium height was 1.51 m and medium weight 46.6 kg and for boys 1.49 m and 44.2 kg, comparative with the urban group, girls medium height was 1.55 m and medium weight 44.9kg and for boys 1.54 m and 46.6 kg. Rural: 15.04% are overweight, 14.36% obese; urban: 17% overweight/obese from which 4% obese. Conclusions: Rural SC Timiș survey: 15.04% overweight, 14.46% obese, the difference boys-girls=3.71% statistically significant, pupils percentage with a BMI over 85 percentile (overweight and obese) for the urban group is 17%. Girls in urban group 13% are overweight or obese and 4% obese. [ABSTRACT FROM AUTHOR]

Prader-Willi syndrome (PWS) is a genetic disorder characterized by absence of the active genes on chromosome 15. Symptoms appear since intrauterine development with decreased fetal movements, low birth weight and persist after birth with hypotonia, feeding difficulties and failure to thrive in the neonatal period. From infancy until adulthood, patients have short stature, become severely obese, with an insatiable appetite and food-seeking behavior. They also have psychiatric disorders, behavioral problems and learning disabilities. Treatment of these patients is multidisciplinary and several drugs have been studied in order to control appetite and reduce the morbidity of obesity, including cardiovascular and metabolic side-effects. The following paper offers an insight in the difficult management of the co-morbidities of Prader-Willi syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Anorexia nervosa (AN) is an eating disorder and also a psychiatric disorder, characterized by a weight well below the standard weight due to a distorted image of the body with obsessive fear of weight gain. Material and method: We present the case of a 10 years old girl weighing 16 kg (body mass index BMI = 8.16 kg/m2), who was hospitalized in the Pediatric Clinic for loss of appetite, inability to walk and maintain orthostatism, with motor deficit on the right side of the body. The onset was affirmative five months ago, after separation from the mother (gone abroad), the child being left in the care of a grandmother. Twenty-four hours after admission, the girl experienced periods of voluntary apnea, requiring endotracheal intubation and mechanical ventilation. Results: Endocrine balance showed in this case: elevated cortisol levels, low levels of follicle stimulating hormone (FSH), estradiol and testosterone; high levels of growth hormone (GH) and low levels of insulin-like growth factor (IGF-I); low levels of thyroid hormones (T3 and T4) and slightly decreased thyroid-stimulating hormone (TSH). During the 96 days of hospitalization, the patient required the placement of a tube tracheostomy to continue mechanical ventilation and a PEG (percutaneous endoscopic gastrostomy tube) for enteral nutrition. Weight gain was 4 kg. The patient died due to infectious complications after 6 months following hospitalization in another center. Conclusions: Endocrine changes that occur in AN are secondary to physiological adaptation of the body to a state of starvation. AN and the associated malnutrition that occurs through self-imposed starvation can cause severe organic and psychological complications and can even lead to death. [ABSTRACT FROM AUTHOR]

Introduction: Juvenile idiopathic arthritis (JIA) is the most important rheumatic disease of childhood. Aim: To study the correlations between biomarkers and the therapeutic response in JIA. Material and methods: In 58 children, diagnosed and classified according to ILAR (International League of Associations for Rheumatology), evaluation consisted in clinical and laboratory examination (ESR, CRP, RF-rheumatoid factor, alpha2-and gammaglobulins, total IgM and IgG, immunoglobulins, anticyclic citrullinated peptide antibody- ACPA, antinuclear antibodies-ANAs, interleukins - ILs). The outcome was assessed by ACR Pedi (American College of Rheumatology)score. Results: Patients distribution regarding diagnosis was: of patients was: 1 systemic JIA, 17 polyarthritis, 18 oligoarthritis, 22 spondyloarthropathies. There was a good, but inverted correlation between the ESR, CRP, serum immunoglobuline values and the ACR Pedi30 scores on NSAID treatment. ACPA was found positive in 6 cases, all associating important inflammation at the onset, but no correlations with ACR scores. ANAs was found positve in just 3 cases of extended oligoarthritis, all associating ocular complications. Plasma levels of IL- 1alpha, IL-1betha, IL-6 pro-inflammatory interleukins was determined in 8 cases. Both fractions of IL-1 were increased in two cases of reactive arthritis and one juvenile spondylitis (with normal IL-6 levels). Enhancement of IL-6 (and normal IL-1 values) was observed in 3 children with polyarthritis. Conclusions: Important biologic inflammatory syndrome at the moment of JIA diagnosis suggests a highly active disease, indicating a more aggressive therapeutic approach. Positive ACPA is less prevalent than in rheumatoid arthritis, but its positivity denotes an erosive course of JIA. ANAs were correlated with extended oligoarthritis and ocular complications. Interleukins could be correlated with clinical form of JIA (IL-1 with spondyloarthropaty, IL-6 with polyarthritis) and could suggest the timing of biological therapy withdrawal. Further studies are needed to sustain these observations. [ABSTRACT FROM AUTHOR]

Small and large birth weights (BWs) for gestational age (GA) represent extremes, but the correlation between extreme BW and metabolic syndrome (MetS) has not been fully elucidated. In this study, we examined this correlation in obese children based on changes in their metabolic profile from childhood to adolescence. A retrospective observational study was performed on 535 obese patients aged 0–18 years in the Clinical and Emergency Hospital for Children "Louis Turcanu" in Timisoara, Romania, based on clinical and biological data from January 2015 to December 2019. We emphasized the links between extreme BW and obesity, extreme BW and cardiometabolic risk, obesity and cardiometabolic risk, and extreme BW, obesity and MetS. Children born large for gestational age (LGA) predominated over those born small for gestational age (SGA). Our findings showed that BW has an independent effect on triglycerides and insulin resistance, whereas obesity had a direct influence on hypertension, impaired glucose metabolism and hypertriglyceridemia. The influences of BW and obesity on the development of MetS and its components are difficult to separate; therefore, large prospective studies in normal-weight patients are needed. [ABSTRACT FROM AUTHOR]

Introduction: Sexual development disorders (DSD) are a group of relative rare diseases, induced by genetic or endocrine abnormalities that affect de endocrine and reproductive systems. Material and Methods: Patients with DSD diagnosed in the Pediatric Endocrinology Department, Timisoara between 2010 and 2014 were included in this study. It consisted in a rigorous anamnesis, a complex physical examination including anthropometrical measurements and examination of the patient's genitalia. General and specific biological tests and karyotype were necessary and in some situations, the gene SRY was also determined. The paraclinic consisted in gynecological consult, an abdominal ultrasound or MRI. Results: Out of 31 patients included in the study, 6 patients were identified as having congenital adrenal hyperplasia associating salt loss and dehydration, one patient was diagnosed with definitive urogenital sinus, while another patient had a reductase deficiency. Four patients were 46XY DSD and 20 patients 46XX DSD. Regarding the therapy prescribed, it was according to their genetic structure and their hormonal constellation. Conclusions: 1. At this time sexual development disorders are underdiagnosed. 2. The implementation of a neonatal screening for 21-hydroxylase deficiency is a must. 3. The creation of a national and European register is necessary. [ABSTRACT FROM AUTHOR]

The adrenogenital syndrom is a group of autosomal recessive diseases which causes the disturbance of the synthesis of suprarenal corticoids. We present the case of a newborn, age 2 days, female, born prematurely, gestational age 36 weeks, with a malformation of the external genitalia, which shows at age of 1 week deterioration of general condition, loss of appetite, weight loss, severe dehydration syndrome, hyponatremia, hyperkalemia. We suspected the adrenogenital syndrome, which was later confirmed. With a specific treatment the evolution was favorable. [ABSTRACT FROM AUTHOR]

Introduction: VLBW preterm infants with postnatal growth restriction have a higher risk of morbidity and mortality. Objectives: The goal of this study was to determine the degree of extrauterine growth restriction in selected VLBW infants admited during ianuary 2011-december 2012 in the Neonatal Ward. Methods: Z-scores for birth weight and discharge weight were computed using Fenton's reference. They were compared to the median weight of a fetus of comparable gestational age based on an intrauterine growth reference. Results: The studied newborns were delivered with birth weight ranging from 700g to 1480g (mean birth weight = 1200g) between 26 to 32 weeks (mean gestational age = 29.2 weeks). 33% were small for gestational age. Mean z-score at discharge (-1.4), was lower than the mean z-score at birth (-0.58). Twice as many babies (68% vs 33%) were growth restricted at discharge compared to at birth. 87% of these experienced feeding intolerance and acute infections therefore requiring parenteral nutrition and invasive procedures as part of their management. Conclusion: The majority of the studied VLBW infants experienced a growth lag during their stay in the Neonatal Ward mostly as a reflection of their feeding intolerance and concurrent morbidities. [ABSTRACT FROM AUTHOR]

The article offers information on emerging biological markers of neonatal sepsis. Topics include increasing cases of neonatal infections worldwide among neonates; importance of biomakers in pathophysiology of sepsis for differentiating between bacterial from viral and fungal infection; and use of proteins such as C‑reactive protein (CRP), procalcitonin (PCT), pancreatic stone protein (PSP) for early diagnosis of sepsis.

Introduction: Neonatal intestinal ischemia is a frequent pathology, but often underdiagnosed. Current technique allows non-invasive investigation of splanchnic circulation, being able of detecting early perfusion changes that occur at this level. Objectives: To determine the clinical value of near-infrared spectroscopy (NIRS) method in early detection of ischemic bowel modifications in newborns from neonatal intensive care unit. Material and methods: We performed a prospective observational study over a period of 18 months on a group of 30 newborns with gestational age between 25-39 weeks, with clinical signs of digestive pathology. Starting non-invasive continuous monitoring by NIRS was performed according to the appearance of the first digestive changes, between day 3 and 21 of life. Oxygen saturation was measured in the cerebral and splanchnic regions (rSO2-C and rSO2-S) and cerebro-splanchnic oxygenation ratio (CSOR) was made. The infants were also monitored by biological and hemodinamyc methods. The monitoring period was variable, between 1-5 days, the period required for establish the causal diagnosis. Statistical significance was determined using statistical t-test. "p" was calculated for confi dence interval of 95% (statistical significance p < 0.05). Also was evaluated the area under the ROC curve to determine the suitability of this technique as a diagnostic tool. Results: The study group included: 6 neonates with congenital heart disease(CHD) with significant decrease in aortic blood flow, 12 with necrotizing enterocolitis (NEC) stage II, 6 with intrauterine growth retardation (IUGR) severe form and 6 pacients with sepsis and associated gastrointestinal pathology without NEC criteria. In all patients, NIRS measurement values were significantly lower compared to the normal range, with different values depending on the severity of the condition. Also the average value of the CSOR was significantly lower compared to the normal. The lowest values of rSO2-S at the beginning of simptoms has had the NEC group followed by those with CHD. Interpretation of the area under the ROC curve shows that rSO2-S and CSOR are excellent indicators of changes in intestinal circulation. Conclusion: NIRS method has the potential to detect the occurrence of alterations in intestinal oxygenation and perfusion, allowing early detection of bowel ischemia, just before the modification of other hemodynamic parameters. [ABSTRACT FROM AUTHOR]

Having emerged as an ideal solution against pathogenic microorganisms, antimicrobial medication seems to have lost the battle today. The ability of the living world to survive and adapt exceeds the synthetic products power of action, leading us today to a real crisis of microbial resistance to antibiotics. An unexpected solution may come also from the bosom of nature, by reconsidering the role and place of the essential oils as antimicrobial combat weapons. Defensive mechanisms created by nature, the essential oils demonstrate extraordinary antibacterial, antiviral and antifungal activity. They also help the synthetic antibiotics in their battle. Among the essential oils and the antibiotics, often intervene synergistic or additive interactions. The essential oils favor the antibiotics to penetrate through the cell wall and to extend their action spectrum. Undoubtedly, essential oils can be of crucial help in the current medical practice, through their complex antibacterial, antiviral and antifungal action. [ABSTRACT FROM AUTHOR]

The "catch-up growth" phenomenon in children born small for gestational age (SGA) has been linked to early onset obesity with the subsequent emergence of metabolic syndrome (MetS). The intima media thickness of the common carotid artery (CIMT) is a well-known marker of subclinical atherosclerosis. Aim: to determine the association between being born SGA and CIMT, a measure of atherogenesis and to investigate metabolic risk factors which impact on CIMT in obese children. Material and methods: A prospective study was carried out over a 1 year period (July 2012-June 2013). We analyzed 122 obese patients, 96 patients appropriate for gestational age (AGA) and 26 patients SGA. Both groups were matched for age, sex and BMI. Blood pressure, lipids and glucose were determined. Oral glucose tolerance tests (oGTT) were performed. Insulin resistance (IR) was assessed by homeostasis model assessment (HOMA). CIMT was measured in all the patients. Results: CIMT in obese children born SGA was significantly increased as compared with obese children born AGA similar age, sex and BMI (p=0.0035). We demonstrated a strong correlation between CIMT and all other metabolic factors (r=0.98). In both groups, mean CIMT of was significantly related to diastolic blood pressure, triglycerides and HOMA. CIMT was not significantly related to systolic blood pressure and baseline glucose. Conclusion: High triglycerides levels and low HDL-cholesterol levels, IR and diastolic blood pressure, which are all components of MetS are strong predictors of increased CIMT in obese children. Being born SGA increases the atherogenic risk. [ABSTRACT FROM AUTHOR]

Introduction. The incidence of smoking is reaching alarming rates worldwide, and teenagers are the age group most susceptible to initiate smoking. There are numerous subsequent consequences, in terms of both medical complications and implicit costs. The exact situation nationwide is unknown, but interventions during pediatric age are mandatory. Material and methods. The study was based on a 10-question survey applied to 371 healthcare professionals (pediatricians, family physicians, etc.). They signed an informed consent form regarding their participation in the study. The study was approved by the Ethics Committee of the Romanian Pediatric Society. The results were centralized and processed statistically. Results and discussions. The majority of respondents are familiar with the notions concerning smoking and the health related consequences of this habit. More than 90% of respondents insist on matters related to smoking in their discussions with patients and their parents, seeking to identify risk elements. Smoking during pregnancy and nursing was identified in 82% of completed surveys. Conclusions. The magnitude of smoking among pediatric population is alarming, placing Romania on the 4th place in Europe for the number of 13-year-old teenagers that smoke on a weekly basis. The fight against this phenomenon must be spearheaded by healthcare professionals by means of accurate and full information, with scientific and medical arguments, and by means of early detection of pathologies resulting from smoking. [ABSTRACT FROM AUTHOR]

Unlabelled: Non-invasive techniques for liver fibrosis assessment were developed for adults and recent researches tested their accuracy in children. The only validated elastographic method for non-invasive liver fibrosis evaluation in children is Transient Elastography (TE). The aim of our study was to investigate the feasibility of liver stiffness (LS) measurement in paediatric patients with chronic liver diseases by means of Acoustic Radiation Force Impulse Elastography (ARFI) and 2D-Shear Wave Elastography (2D-SWE), compared to TE as reference method.Material and Methods: We enrolled 54 consecutive children and adolescents with different chronic liver diseases. All patients were examined by means of TE, ARFI, and 2D-SWE. All measurements were performed in the right liver lobe, in the same session, in fasting condition. We considered reliable LS elastographic measurements as follows: for TE and ARFI - the median value of ten measurements with a success rate >/=60% and an interquartile range<30%, for 2D-SWE - the median value of five measurements.Results: The successful measurement rate for TE was 94.4% (51/54). Taking TE as a reference method, sensitivity of ARFI for detecting fibrosis F1 was 71.42%, for F2-77.77%, for F3-62.5% and for F4-71.42%. Sensitivity of 2D-SWE for detecting F1 was 92.85%, for F2-83.33%, for F3-87.5% and for F4-85.71%. We found significant correlations between TE and 2D-SWE on the entire lot (Kappa correlation factor=0.843, p=0.001). Analyzing the subgroup with SR=60%-70%, we did not find significant correlation between TE and ARFI (Kappa correlation factor=0.172, p=0.452). Assessing the subgroup with SR>70%, we found a significant correlation between TE and ARFI (Kappa correlation factor=0.761, p=0.001).Conclusions: Overall, 2D-SWE correlate better with TE compared to ARFI in children. Excluding patients with less satisfactory technical parameters, we obtained significant correlations between all three methods. Both SWE and ARFI are non-invasive techniques feasible of performing on paediatric patients along with TE. [ABSTRACT FROM AUTHOR]

Introduction. Neonatal intestinal ischemia is a frequent pathology, but unfortunately, often underdiagnosed. Current technique allows non-invasive investigation of splanchnic circulation, being capable of detecting early perfusion changes that occur at this level. Objectives. The aim of this study was to determine the clinical value of infrared spectroscopy (NIRS) in early detection of ischemic bowel modifications in newborns from neonatal intensive care unit. Material and methods. We performed a prospective observational study over a period of 18 months, on a group of 15 newborns with gestational age between 25-38 weeks. All infants included in the study had one or more clinical signs of digestive pathology. Starting non-invasive continuous monitoring by cerebral and abdominal NIRS was performed according to the appearance of the first digestive changes between day 3 and 21 of life. Oxygen saturation was measured in the cerebral and abdominal regions (rSO2-C and rSO2-A) and cerebro-splanchnic oxygenation ratio (CSOR) was carried out. Meanwhile infants were monitored by biological and hemodinamyc methods.The monitoring period was variable, being between 1-5 days, the period required for establish the causal diagnosis. Statistical significance was determined using statistical t-test. “p” was calculated for confidence interval of 95% (statistical significance p < 0.05). Also was evaluated the area under the receiver operating characteristic (ROC) curve to determine the suitability of this technique as a diagnostic tool. Results. The study group included: 3 neonates with congenital heart disease(CHD) with significant decrease in aortic blood fl ow, 4 neonates with necrotizing enterocolitis (NEC) stage II, 3 pacients with intrauterine growth retardation (IUGR) severe form, 1 newborn with intestinal atresia and secondary peritonitis, 1 newborn with Rh incompatibility anemia with placental anasarca and 3 pacients with sepsis and associated gastrointestinal pathology without NEC criteria. In all 15 patients, NIRS measurement values were significantly lower compared to the normal range, with different values depending on the severity of the condition. Mean rSO2-A value was 41.85 (interquartile range15-85) compared to an average value, considered normal. Also the average value of the CSOR ratio was significantly lower compared to the normal. The lowest values of rSO2-A at the beginning of simptoms has had the group of patients with CHD followed by those with NEC. The area under the ROC curve was 0.95 (95% CI 0.88 to 1.02) for the CSOR ratio. Considering a limit value of ROCS for prediction of intestinal ischemia < 0.75, this ratio proves to be an excellent indicator of changes in bowel circulation. Conclusion. NIRS method has the potential to detect the occurrence of alterations in intestinal oxygenation and perfusion, allowing early detection of bowel ischemia, just before the modification of other hemodynamic parameters. NIRS is a non-invasive, highly accurate method, to follow in evolution the changes in tissue perfusion under the treatment instituted, also being able to guide treatment, proving helpful in clinical practice. [ABSTRACT FROM AUTHOR]

Introduction. Sleep apnea (SA) in children is underdiagnosed. Compromising somatic development and alterated quality of life are frequently present. Central sleep apnea (CSA) may be the cause of convulsive episodes in sleep or could be their result. Polysomnography is the gold-standard of SA objective assessment. Material and methods. We present a 7-year-old boy hospitalized in September 2013 for choking episodes occurred during sleep. The assessment was made by history, clinical examination, laboratory investigations (functional, imaging, biological) and interdisciplinary checkups. Results. Repeated respiratory tract infection and a history of about 20 days of episodes of choking were established by anamnesis. Were diagnosed: underweight status; chronic rhinitis; tonsillar hypertrophy; obstructive ventilatory dysfunction; mixed sleep apnea with predominant central component; atopic status; convulsions. Imaging explorations revealed normal aspects. Complex hygienic-dietary and medical treatment has led to the disappearance of respiratory disorders during sleep, with normalization of spirometric parameters and nutritional status. Conclusions. Polygraphic sleep study identified sleep apnea, indicating the predominance of the central component and facilitating etiologic diagnosis. Interdisciplinary management led to favorable evolution of the case. [ABSTRACT FROM AUTHOR]

The intima media thickness of the common carotid artery (CIMT) is a well-known marker of subclinical atherosclerosis. The "catch-up growth" phenomenon in children born small for gestational age (SGA) has been linked to early onset obesity with the subsequent emergence of metabolic syndrome (MetS). Aim: to determine the association between being born SGA and CIMT, a measure of atherogenesis and to establish cut off values for CIMT in obese children. Material and methods. A prospective study was carried out over a 1 year period (Jul 2012-June 2013). We analyzed 122 obese patients, 96 patients appropriate for gestational age (AGA) and 26 patients SGA. Both groups were matched for age, sex and BMI. CIMT was measured in all the patients. Using ROC curve, cut off values have been obtained for both groups. Results. CIMT in obese children born SGA was significantly increased as compared with obese children born AGA similar age, sex and BMI (p = 0.0035). A CIMT cut off value of 0.049 cm has been obtained with a high sensitivity and specificity. Conclusion. Being born SGA increases the atherogenic risk. CIMT is a well-known marker of subclinical atherosclerosis and is a noninvasive and inexpensive method for detecting development of subclinical atherosclerosis. Further population studies regarding reference values for CIMT in obese children born SGA and AGA are necessary. [ABSTRACT FROM AUTHOR]

Juvenile idiopathic arthritis (JIA) is the most important rheumatic disease of childhood. The aim of this study is to investigate the correlations between clinical signs and inflammatory biomarkers in JIA. In 58 children, diagnosed and classified according to ILAR (International League of Associations for Rheumatology), evaluation consisted in clinical and laboratory examination (ESR, CRP, RF-rheumatoid factor, anticyclic citrullinated peptide antibody- anti-CCP, interleukins - ILs). The distribution of patients was: 1 systemic JIA, 17 polyarthritis, 18 oligoarthritis, 22 spondyloarthropathies. There was a good correlation between the ESR, CRP values and the functional scores. Anti-CCP antibodies was found positive in 6 cases, but borderline levels, all associating important inflammation at the onset, but no correlations with functional indexes. Plasma levels of IL-1alpha, IL- 1betha, IL-6 pro-inflammatory interleukins was determined in 8 cases. Both fractions of IL- 1 were increased in two cases of reactive arthritis and one juvenile spondylitis (with normal IL-6 levels). Enhancement of IL-6 (and normal IL-1 values) was observed in 3 children with polyarthritis. In the studied group, we found no correlations between clinical form of JIA and anti-CCP titre. Interleukins could be correlated with clinical form of JIA (IL-1 with spondyloarthropaty, IL-6 with polyarthritis). Further studies need to sustain these observations. [ABSTRACT FROM AUTHOR]

Achondroplasia is a rare autosomal dominant genetic disease and the most common form of short-limbed dwarfism. The clinical achondroplastic features are: short stature and limbs, enlarged head with prominent forehead, lordosis and a trident aspect of the hand. The intelligence is usually normal. Because of the complexity of the complications (apnea, motor retardation, hydrocephaly, respiratory disorders, spinal stenosis, spinal cord compression) a child with achondroplasia has to be periodically monitored by a multidisciplinary team, especially in the first years of life. Moreover, the role of the psychological counseling is essential for a child with achondroplasia and his family. Also, a better communication network among different specialists and the support associations is needed, in order to create a professional guidance and a normal environment for those who are living with achondroplasia. [ABSTRACT FROM AUTHOR]