Newborn screening in southeastern Europe.

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority.

Prevalence and assessment of malnutrition risk among hospitalized children in Romania.

Malnutrition is a prevalent condition in hospitalized children. Our aims were to evaluate the nutritional state and to validate the STRONGkids risk assessment tool in a hospitalized paediatric population in Romania. This is a prospective single-centre study in a tertiary teaching hospital in Romania (May 2011-January 2012). We calculated the STRONGkids score and measured the children's height and weight. Standard deviation < -2 for weight-for-height and height-for-age was considered to indicate acute or chronic malnutrition respectively. Two hundred seventy-one children were included, with median age of 5.2 years and median hospital stay of 2.01 days. Prevalence of malnutrition and severe malnutrition was 37% and 15% respectively. Using the STRONGkids screening tool, 58% of the children were found at risk of malnutrition (24% were at high risk). The kappa coefficient of agreement between STRONGkids and WHO malnutrition classification was 0.61. When a low serum protein level was used in upgrading STRONGkids risk category, kappa increased significantly to 0.71 (p = 0.001). A modified STRONGkids score, incorporating total serum protein levels, performs well in predicting malnutrition in hospitalized paediatric population in Romania.

Relationship of serum insulin-like growth factor I (IGF-I) with nutritional status in pediatric patients with malignant diseases--a single Romanian center experience.

UNLABELLED: The aim of this study was to analyze insulin-like growth factor I (IGF-I) serum level in pediatric patients with cancer compared with pediatric patients with nononcological diseases and to assess the relationship between IGF-I and nutritional status of oncological patients. From January 2009 to July 2012, we assessed 151 consecutively hospitalized patients in a tertiary emergency pediatric hospital. The patients were divided into two groups: group I, consisting of patients with malignant diseases (64 patients), and group II, the control group, consisting of 87 age- and gender-matched patients with different pediatric diseases. The anthropometric parameters (weight, height, body mass index, middle upper arm circumference (MUAC), and tricipital skinfold thickness (TST) and biochemical parameters (proteins, albumin, and total IGF-I) were comparatively evaluated at the diagnosis and after intensive chemotherapy in the malignant group. Anthropometric and biochemical parameters in group I were significantly different from those in group II for height, MUAC, TST, total proteins, and albumin (p < 0.05). Twenty-five out of 64 patients with malignant diseases and 5 out of 87 patients in the control group had malnutrition. IGF-I in patients with cancer was much lower than in the control group (median 48.3 ng/ml, range 25.00-662.00 ng/ml vs 129.00 ng/ml, range 25.00-745.00 ng/ml) (p = 0.014). We found a positive correlation between IGF-I, MUAC, and TST at the diagnosis of the malignant disease. Also, we identified positive correlations between IGF-I, protein, and albumin. Serum IGF-I levels in cancer patients were significantly lower at diagnosis than after chemotherapy (48.3 ng/ml, range 25.00-662.00 ng/ml vs 110.0 ng/ml, range 25.00-573.00 ng/ml; p = 0.04). CONCLUSION: IGF-I seems to be an accurate biochemical parameter used in malnutrition assessment of children with cancer. IGF-I correlated with the anthropometric parameters of the arm, serum protein, and albumin. These parameters most accurately characterize the nutritional status.

Cardiological Monitoring - A Cornerstone for Pediatric Inflammatory Multisystem Syndrome Temporally Associated with COVID-19 Outcome: A Case Report and a Review from the Literature.

Introduction: Pediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS) is a rare life-threatening condition requiring a complex management and multidisciplinary approach, whose outcome depends on the early diagnosis. Case report: We report the case of a 2 years and-5-month-old boy admitted in our clinic for fever, abdominal pain and diarrhea. The clinical exam at the time of admission revealed influenced gen-eral status, bilateral palpebral edema and conjunctivitis, mucocutaneous signs of dehydration, and abdominal tenderness at palpation. The laboratory tests performed pointed out lymphopenia, thrombocytopenia, anemia, elevated C-reactive protein - CRP, erythrocyte sedimentation rate and ferritin levels, hyponatremia, hypopotassemia, hypertriglyceridemia, elevated D-dimer, in-creased troponin and NT-proBNP. The real-time polymerase chain reaction (RT-PCR) test for SARS-CoV-2 infection was negative, but the serology was positive. Thus, established the diagnosis of PIMS-TS. We initiated intravenous immunoglobulin, empirical antibiotic, anticoagulation therapy and symptomatic drugs. Nevertheless, the clinical course and laboratory parameters worsened, and the 2nd echocardiography pointed out minimal pericardial effusion, slight dilation of the left cavities, dyskinesia of the inferior and septal basal segments of the left ventricle (LV), and LV systolic dysfunction. Therefore, we associated intravenous methylprednisolone, angiotensin converting enzyme inhibitors, spironolactone and hydrochlorothiazide, with outstanding favorable evolution. Conclusions: Echocardiographic monitoring might be a lifesaving diagnostic tool in the management of PIMS-TS.

Plasma RBP4 Level in Association with Body Composition, Metabolic Profile, STRA6 and RBP4 Gene Polymorphisms in Obese Romanian Children.

BACKGROUND: Pediatric obesity continues to remain a serious health concern which has significantly increased the morbidity risk in adulthood. Recent studies have analyzed the impact of the two adipokines, RBP4 (retinol binding protein 4) and STRA6 (stimulated by retinoic acid 6) in pediatric obese subjects with contradictory results. METHODS: An observational study was conducted in the Pediatric and Endocrinology Departments, Targu-Mures, Romania, including 213 children between 5-17 years of age, divided into two groups according to body mass index (BMI) standard deviation score (SDS): case (overweight or obese) and control (normal SDS). Age, sex, basic anthropometric and biochemical measurements and genotype of rs3758539, and rs10882280 for RBP4 gene and rs974456 and rs351224 of STRA6 gene were analyzed. Statistical analysis used SPSS v. 25.0, with a level of significance α = 0.05. RESULTS: There is no association between the two gene's polymorphisms and obesity in our pediatric population. In regression analysis, with HOMA IR (homeostatic model assessment of insulin resistance) as the outcome, the plasmatic level of RBP4 and fat mass percentage are significant predictors, with the model explaining 42% of the HOMA variability. Hypercholesterolemia was significantly associated with male sex, carrying variant allele and heterozygote status of rs10882280 RBP4 gene and wild-type allele rs351224 of STRA6 gene. CONCLUSION: There is no significant association between obesity and SNPs of the RBP4 and STRA6 in our population, but they seem to play a role in insulin resistance and hypercholesterolemia.

Severe Austrian Syndrome in an Immunocompromised Adult Patient - A Case Report.

BACKGROUND: Known also as Osler's triad, Austrian syndrome is a complex pathology which consists of pneumonia, meningitis and endocarditis, all caused by the haematogenous dissemination of Streptococcus pneumoniae. The multivalvular lesions are responsible for a severe and potential lethal outcome. CASE REPORT: The case of a 51-year-old female patient, with a past medical history of splenectomy, is presented. She developed bronchopneumonia, acute meningitis and infective endocarditis as a result of Streptococcus pneumoniae infection and subsequently developed multiple organ dysfunction syndromes which led to a fatal outcome. Bacteriological tests did not reveal the etiological agent. The histopathological examination showed a severe multivalvular endocarditis, while a PCR based molecular analysis from formalin fixed valvular tissue identified Streptococcus pneumoniae as the etiologic agent. CONCLUSIONS: The presented case shows a rare syndrome with a high risk of morbidity and mortality. Following the broad-spectrum treatment and intensive therapeutic support, the patient made unfavourable progress which raised differential diagnosis problems. In this case, the post-mortem diagnosis demonstrated multiple valvular lesions occurred as a result of endocarditis.

Staphylococcal Scalded Skin Syndrome in Child. A Case Report and a Review from Literature.

Staphylococcal scalded skin syndrome (SSSS) is the medical term used to define a skin condition induced by the exfoliative toxins produced by Staphylococcus aureus. The disorder is also known as Ritter disease, bullous impetigo, neonatal pemphigus, or staphylococcal scarlet fever. The disease especially affects infants and small children, but has also been described in adults. Prompt therapy with proper antibiotics and supportive treatment has led to a decrease in the mortality rate. The current case report describes the clinical progress of a patient with generalized erythema and fever, followed by the appearance of bullous lesions with tendency to rupture under the smallest pressure, and with extended areas of denudation. The patient aged four years and six months was admitted to our clinic to establish the aetiology and treatment of a generalized bullous exanthema, followed by a skin denudation associated with fever and impaired general status. Based on clinical and paraclinical examinations a diagnosis of Staphylococcal scalded skin syndrome was established which responded favourably to antibiotic treatment, hydro-electrolytic re-equilibration, and adequate local hygiene. Staphylococcal infection can represent a problem of significant pathological importance sometimes requiring a multidisciplinary approach involving paediatricians, dermatologists, infectious diseases specialists, and plastic surgeons.

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

BACKGROUND: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. METHODS: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. RESULTS: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from 1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. CONCLUSIONS: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.

The three-dimensional ultrasonography of the fetal face--history and progress.

Fetal face was the main concern of researchers who developed three-dimensional ultrasound. 3-D ultrasound beginnings date back to 1973. Parallel concerns of researchers from different parts of the world have led to a constantly changing the equipment and software. 3-D images of the fetal face were obtained since 1986, but those that are available on the ultrasound devices sold today dates from 1992, and the 4-D since 1996. Techniques such as volume rendering and multiplanar volume rendering, led to the development of 3-D ultrasound. Late 2000 revealed study fetal face by multiplane three-dimensional ultrasound, through the acquisition of volume and its processing. Study of fetal profile by this method provides new data on the jaw, naso-maxillo-mandibular angle, even a diagram of the fetal profile or of dimensions of the fetal face or nasal bone length. Fetal profile analyzed by 16 parameters measured by 3-D ultrasound, with the creation of a craniofacial index variable is useful in assessing normal and abnormal fetal face. Today, the bones of fetal face--nose, jaw, bone palace, those of the orbit, can be studied in dynamics, from 12-14 gestational weeks. The best ultrasound images can be obtained after 21 gestational weeks, when fetal size and its ratio with amniotic fluid are optimal for the acquisition of fetal volume.