Kowalewska-Kantecka B.,Instytut Matki i Dziecka
Pediatria i Medycyna Rodzinna | Year: 2011
Breastfeeding is a gold standard of feeding newborn and infants that brings optimal somatic- psychomotor development and cognitive ability. Mother milk is species specific for human infants and also their irreplaceable, optimal food. Every child has natural right for his mother milk. The act of breastfeeding itself, as a mode of mother-infants interaction, may favour cognitive development. Taking milk directly from the breast has profound effects on both mother and her child. According to WHO and AAP recommendations breastfeeding should be the only food during first 6 months of life, and after introduction of complementary, solid food, this should be prolonged up to 12 months or longer. Unique value of mother milk depends on many specific bioactive agents that create requirement for optimal somatic and mental development. It is the most optimal food for brain development. Breastfeeding is irreplaceable source of immunoglobulins, bioactive growth promoters and anti-inflammatory agents, live activated leukocytes and immunomodulatory agents as well. Longchain polyunsaturated fatty acids (LCPUFAs) in human milk have an effect on the chemical composition of the brain and enhance retinal and cortical function. This immunological properties are not to reconstruct on the formula. Specific properties of mother milk could significantly prevent or reducing the death rate of children under five. In this article short survey of breastfeeding concerning papers and the most important WHO, UNICEF worldwide recommendations, programs, declarations and strategies on the promotion, protection and support of breastfeeding and International Code of Marketing of Breast-milk Substitutes are presented. © Pediatr Med Rodz 2011.
Cudzilo D.,Instytut Matki i Dziecka
Medycyna wieku rozwojowego | Year: 2012
As publications on craniofacial anomalies, malocclusions and dental complications recognised in patients suffering from Moebius syndrome are scarce, the authors of this paper decided to discuss the above aspects in broader terms along with the possibilities offered by orthodontic treatment. The etiology of Moebius syndrome has not hitherto been discovered, however the opinion prevails that it is brought on by multiple factors and conditions. In the analysed case, Moebius syndrome was diagnosed only when the patient was 6 years old. Based on the clinical examination, typical characteristics of the syndrome were observed: craniofacial dysmorphism as well as foot development disorder in the form of talipes equinovarus (club foot). Moreover, Type II Angle's classification of malocclusion was detected - crowded teeth in the mandible and maxilla and hypoplastic enamel. Cephalometric analysis identified retruded position of the mandible against the cranial base, protruded position of the maxilla, shortening of posterior face height, protrusion of incisors in the maxilla. The orthopantomogram showed the presence of all permanent teeth. At the beginning of the orthodontic treatment removable appliances were used, but despite good cooperation on the part of the patient, only a slight improvement was observed. Further orthodontic treatment envisaged extraction of permanent teeth and use of fixed appliances while waiting for the improvement of occlusion.
Witek J.,Instytut Matki i Dziecka |
Pankowska E.,Instytut Matki i Dziecka
Pediatric Endocrinology, Diabetes and Metabolism | Year: 2011
Insulin resistance is characterized by decreased tissue sensitivity to insulin. The hallmark of insulin resistance is decreased tissue glucose uptake despite normal or elevated insulin concentration. There has been an upward trend in the incidence of insulin resistance in developed countries, although in pediatric population it is difficult to assess. Both genetic and environmental factors play an important role in the etiology of insulin resistance, namely increased diet caloricity and decreased physical activity. Gradually, this leads to adipose tissue build-up. The role of visceral adipose tissue is of particular importance, mainly due to its significant endocrine activity, leading to adverse metabolic effects. The most important consequences of insulin resistance in children include increased incidence of type 2 diabetes, atherogenic dyslipidemia and arterial hypertension, which lead to increased cardiovascular risk. Children with insulin resistance can develop non-alcoholic steatohepatitis and sleep apnea syndrome. In case of female pediatric patients a higher incidence of polycystic ovary syndrome (PCOS) is observed. Furthermore, the authors reviewed opinions on risk factors for insulin resistance, as well as direct and indirect insulin resistance assessment methods. The article presents the principles of primary and secondary prevention of insulin resistance in children, with particular allowance for dietary recommendations and recommendations to increase physical activity, and, in selected cases, current guidelines on pharmacological treatment.
Burton B.K.,Childrens Memorial Hospital |
Nowacka M.,Instytut Matki i Dziecka |
Hennermann J.B.,Charite - Medical University of Berlin |
Lipson M.,Kaiser Permanente |
And 8 more authors.
Molecular Genetics and Metabolism | Year: 2011
Background: Phenylketonuria (PKU) results from impaired breakdown of phenylalanine (Phe) due to deficient phenylalanine hydroxylase (PAH) activity. Sapropterin dihydrochloride (sapropterin, Kuvan®) is the only US- and EU-approved pharmaceutical version of naturally occurring 6R-BH 4, the cofactor required for PAH activity. Sapropterin enhances residual PAH activity in sapropterin-responsive PKU patients and, in conjunction with dietary management, helps reduce blood Phe concentrations for optimal control. Approval was based on the positive safety and efficacy results of four international clinical studies, the longest of which was 22weeks in duration. Objective: To evaluate the safety of long-term treatment with sapropterin in PKU subjects who participated in previous Phase 3 sapropterin trials. Methods: PKU-008 was designed as a Phase 3b, multicenter, multinational, open-label, 3-year extension trial to evaluate the long-term safety of sapropterin in patients with PKU who were classified as sapropterin responders and participated in prior Phase 3 sapropterin studies: 111 subjects aged 4-50. years completed prior studies and were subsequently enrolled in study PKU-008. Routine safety monitoring was performed at 3-month intervals and included adverse event reporting, blood Phe monitoring, clinical laboratory evaluations, physical examinations and vital sign measurements. Results: Average exposure during PKU-008 was 658.7 ± 221.3 days (range, 56-953; median, 595). The average total duration of participation in multiple studies (PKU-001, PKU-003, PKU-004, and PKU-008; or PKU-006 and PKU-008) was 799.0 ± 237.5 days (range, 135-1151). The mean sapropterin dose was 16.2 ± 4.7. mg/kg/day. Most adverse events were considered unrelated to treatment, were mild or moderate in severity, and were consistent with prior studies of sapropterin. No age-specific differences were observed in adverse event reporting. Three subjects discontinued treatment due to adverse events that were considered possibly or probably related to study treatment (one each of difficulty concentrating, decreased platelet count, and intermittent diarrhea). No deaths were reported. Of seven reported serious adverse events, one was considered possibly related to study treatment (gastroesophageal reflux). There were no laboratory or physical examination abnormalities requiring medical interventions. For most subjects, blood Phe concentrations were consistently within target range, confirming the durability of response in subjects undergoing extended treatment with sapropterin. Conclusion: Sapropterin treatment was found to be safe and well tolerated at doses of 5 to 20. mg/kg/day for an average exposure of 659. days. This study supports the safety and tolerability of sapropterin as long-term treatment for patients with PKU. © 2011 Elsevier Inc.
Wolkowicz A.,Instytut Matki i Dziecka |
Hozyasz K.K.,Instytut Matki i Dziecka
Pediatria Polska | Year: 2014
Galactosemia, rare inherited metabolic disease, causes 1-3% of all cases of congenital cataract. Lens opacity occurs even in 68% of patients with classic galactosemia and in almost all galactokinase deficiencies. Decreased enzymatic activity results in overproduction and accumulation of galactitol in eye lens, which leads to lens opacity due to osmotic swelling of lens cells. Such dysfunction of galactose metabolic pathway enzymes can also lead to presenile cataract formation. Early diagnosis and dietary intervention, in most cases, lead to regression or delay of cataract formation. Unfortunately, surgical treatment is needed in some patients, especially those with insufficient dietary compliance. © 2013 Polish Pediatric Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.