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.

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.

An indirect evaluation of the national program of diabetes mellitus--study case of Romania.

UNLABELLED: Diabetes mellitus (DM) represents an important problem of public health according to the worldwide statistical data. In Romania, the national program is facing the same situation: increasing incidence (both for children and adults) and prevalence of this disease. AIM: To evaluate the results of the national program for DM through some indirect indicators. MATERIAL AND METHODS: This study represents a descriptive analysis of hospitalized DM cases between 1.01.2009 and 31.03.2013, in Romania. The lack of statistical data available from the Ministry of Public Health (the latest update on the web page for DM is from 2007) makes the evaluation of the outcomes of this program quite difficult. An indirect evaluation is possible using the national hospital registrations for DM complications, recorded by the National School of Management and Public Health. For diagnostic registration was used the classification for Diagnostic Related Group (DRG), version HCFA DRG v. 18. RESULTS: Despite the facilities offered to diabetic patients through the program, the burden of DM over the health system is quite large due to the large number of patients having complications. CONCLUSIONS: Even the objectives of the program appear to be accomplished; the indirect outcomes of the evaluation suggest that could be a gap between the hospital specialist and family doctors and a lack of health education for patients with DM.

Celiac disease with neurologic manifestations in children.

UNLABELLED: Celiac disease (CD) is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals and neurologic manifestations may be one of the presentations form. The aim of this study was to report the incidence of neurologic manifestations in children with CD. MATERIAL AND METHODS: Between 2000-2010, 48 children aged 2-18 years diagnosed with CD have been monitored. The diagnosis of CD was made by serological tests and intestinal biopsy. The study protocol included: measurement of weight and height, biological and immunological tests, histological examination, questionnaires filled out by parents about their child motor development and some neurologic signs, psychological exam, electroencephalogram, and brain CT-scan. RESULTS: 16 of the 48 children presented one or more neurologic symptoms as the onset manifestation of CD. The neurologic signs in order of frequency were: headache/migraine, attention-deficit/hyperactivity disorder, epileptic seizures, mental retardation, cerebellar ataxia and behavior disorders. Brain CT-scan showed cerebral calcifications in 3 patients with epilepsy, and atrophy in 2 cases with cerebellar ataxia. All children received gluten free diet, but a favorable course was noticed only in the children with migraine and epilepsy, in the other patients this diet having no influence on neurologic symptoms. CONCLUSIONS: This study proved the variety of neurologic symptoms that can be included in the clinical signs of celiac disease in pediatric patients. That is why in the presence of different neurologic symptoms of unknown etiology and resistant to treatment, celiac disease must be taken into account and laboratory investigations have to include intestinal biopsy and immunological test.

[Current microbiological data on lower respiratory tract infection in cystic fibrosis. Part I: Isolated microorganisms and their clinical significance]. / Date microbiologice actuale privind infectia tractusului respirator inferior în fibroza chistica. Partea I: Microorganisme izolate si semnificatia lor clinica.

Cystic fibrosis (CF) is a disease that degrades the local defense mechanisms of the lower respiratory tract. As a result, patients develop recurrent infections that progressively deteriorates antiinfection defenses and represent the major cause of mortality. A hallmark of those infections is the diversity of microorganisms isolated from broncho-alveolar lavage or sputum. The clinical significance of isolates is different, the recognition of the role in altering of respiratory function being important in guiding antibiotic therapy. Current data support pathogenicity in CF of S. aureus, P. aeruginosa and B. cepacia complex, the latter two being considered "preterminal bacteria". S. aureus was the most common cause of mortality and morbidity in preantibiotic era. Today, life expectancy was improved with the introduction of antistaphylococcal antibiotics. Hypermutation of P. aeruginosa--the most common species isolated from patients with CF, is the essential factor in the development of multi-resistance to antibiotics. As P. aeruginosa, B. cenocepacia is a virulent species that cause infections with poor prognosis. Microorganisms with secondary role (H. influenzae, S. maltophilia, atypical Mycobacteria, Aspergillus spp) whose clinical significance has not been clarified yet, require further studies.

Current microbiological data on lower respiratory tract infection in cystic fibrosis. Part II: Recommendations for microbiological diagnosis in cystic fibrosis.

Current standards of sputum examination in respiratory infections with opportunistic bacteria cannot be applied to patients with cystic fibrosis due to their particularities. In 2010, a working group from Great Britain established standards for microbiological processing of samples from patients with cystic fibrosis. Recommendations on sample collection, transportation, storage, and processing, identification of bacterial isolates and in vitro antibiotic susceptibility are made. Also recommended is that the multidisciplinary team monitoring patients with cystic fibrosis to include a microbiologist.

[Medical-social aspects of medical staff migration]. / Aspecte medico-sociale ale migratiei personalului medical.

The migration of the medical staff represents an increasingly worring reason for romanian health policy-makers. According to the Ministry of Health, in 2009 year, the human resources indicators pointed out 26.5 physicians/ 10,000 inhabitants (whereas the European Union average was 32.8) and 60.4 nurses and midwives (whereas the European Union average was 108.5). Between 2007-2010, over 9000 physicians requested professional certificates in order to practice abroad and the majority have left the country. This phenomenon is related to the Romania's entrance in European Union and it is supposed to continue in the coming years. The direct consequences of the migration of the medical staff consist of significant differences between the country's regions in the health workforce distribution, the most affected by the critical shortage of health service providers being the North-Eastern region, especially in rural area. In order to limit the migration phenomenon, the Ministry of Health elaborated some strategies and workforce policies on medium and long-term, but the results will be difficult to assess.

[Nutritional management of cystic fibrosis in children]. / Managementul nutritional în fibroza chistica de pancreas la copil.

Children with cystic fibrosis (CF) are at risk for poor growth. A major goal in the management of CF patients is to maintain a good nutritional status as it improves long-term survival. A balanced diet, which includes adequate calories and the right vitamin and mineral supplements, is key to good nutrition and health. The authors present the improvements in management of nutrition that have occurred, particularly over the past 20 years. They also present the dietetic reccomandations for each group of age.

[Helicobacter pylori infection in children with celiac disease]. / Infectia cu Helicobacter pylori la copiii cu boala celiaca.

UNLABELLED: The purpose of this study is to evaluate symptomatology, endoscopic and histopathologic changes of Helicobacter pylori infection and gastritis lesions without Helicobacter pylori infection on children diagnosed with celiac disease. MATERIAL AND METHOD: 15 children under gluten-free diet were selected and, because of the recurrence of the dyspeptic syndrome, an upper digestive endoscopy associated with histopathologic exam was performed. Considering the histopathologic result we made two groups: first group (8 children with celiac disease and Helicobacter pylori infection) and second group (7 children with celiac disease without Helicobacter pylori infection, but associated with gastritis lesions). RESULTS: The main symptom was diffuse abdominal pain in both groups. The endoscopic antrum aspects were congestive with striped aspect (first group--12.5%, second group--42.9%) and congestive with nodulation (first group--25%, second group--14.3%). The histopathologic diagnosis were: moderate active chronic pangastritis (first group--25%, second group--14.3%) moderate active chronic gastritis (first group--25%,second group--14.3%), lymphocytic gastritis (first group--12.5%, second group--14.3%). CONCLUSION: The histopathologic exam remains the gold standard for celiac disease, gastritis lesions and Helicobacter pylori infection.

[Malnutrition and complex nutritional therapy in cystic fibrosis]. / Malnutritia si terapia complexa nutritionala în fibroza chistica de pancreas.

Good nutrition is essential for normal growth and development. Cystic fibrosis (CF) is commonly associated with energy deficiency in children. Malnutrition is a very frequent complication and contributes significantly toward morbidity in CF. Although malnutrition due to pancreatic enzyme insufficiency is correctable, the majority of CF patients are underweight and have short stature. During the last few decades, improved treatment measures and nutritional support in CF have increased survival and quality of life in these patients. Patients with CF must receive a hypercaloric and hyper-proteic diet, with a high fat content, a normal quantity of carbohydrates and with pancreatic and liposoluble vitamin supplements in case of pancreatic insufficiency.

[The implications of nutrition in the obesity of children and adolescents]. / Implicatiile alimentatiei în obezitatea copilului si adolescentului.

Obesity is currently the most prevalent nutritional disease of children and adolescents and a common health problem. Besides the bio-ecologic and socio-economic factors (genetical, professional, cultural, educational), the exogenous factors (nutritional) have a pro-obesity action by increasing the caloric intake determining energy imbalance. The authors present the role of nutrition in the occurrence of obesity in children and adolescents and its role in the treatment of the disease.

[Considerations regarding one particular case of Rett syndrome]. / Discutii pe marginea unui caz particular de sindrom Rett.

Rett syndrome is a form of X-linked mental retardation limited to females, expressed by postnatal microcephaly, moderate/severe mental retardation and prominent autistic features. We present a case to illustrate this rare entity, but also to discuss the suggestive behaviour and to underline the importance of diagnostic criteria. Our case associates porencephaly and positive CMV test that raised diagnostic difficulties in the beginning.