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Guilbride D.L.,The Malaria Research Foundation | Gawlinski P.,Institute of Mother and Child
Trends in Parasitology | Year: 2012

The role skin plays in malaria infection has long been overlooked. Recent analysis, however, suggests skin-infecting sporozoites initiate rapid suppression of immunity, establishing early tolerance to subsequent lifecycle stages. This explains susceptibility to reinfection by mosquito bite, independent of blood stage-induced immunosuppression or semi-immunity. Vaccine trials corroborate skin-initiated immunosubversion due to skin-infecting forms, tightly correlating bite pre-exposure, live parasites in the skin and endemic vaccine failure. Rapidly advancing skin immunobiology and recently described parasite development in host skin further substantiate the proposed model, consolidating a new concept in parasite biology, exemplified by malaria: natural infection has a defined, potently immunosubversive skin stage, crucially affecting vaccine function and vitally relevant to eradication. © 2012.

Fudalej P.,Institute of Mother and Child
Journal of Craniofacial Surgery | Year: 2010

Objective: To retrospectively evaluate the craniofacial morphology of children with a complete unilateral cleft lip and palate treated with a 1-stage simultaneous cleft repair performed in the first year of life. Methods: Cephalograms and extraoral profile photographs of 61 consecutively treated patients (42 boys, 19 girls) who had been operated on at 9.2 (SD, 2.0) months by a single experienced surgeon were analyzed at 11.4 (SD, 1.5) years. The noncleft control group comprised 81 children (43 boys and 38 girls) of the same ethnicity at the age of 10.4 (SD, 0.5) years. Results: In children with cleft, the maxilla and mandible were retrusive; the palatal and mandibular planes were more open, and sagittal maxillomandibular relationship was less favorable in comparison to noncleft control subjects. Soft tissues in patients with cleft reflected retrusive morphology of hard tissues-subnasal and supramental regions were less convex, profile was flatter, and nasolabial angle was more acute relative to those of the control subjects. Conclusions: Craniofacial morphology after 1-stage repair was deviated in comparison with noncleft control subjects. However, the degree of deviation was comparable with that found after treatment with alternative surgical protocols. Copyright © 2010 by Mutaz B. Habal, MD.

Jodkowska M.,Institute of Mother and Child
Medycyna wieku rozwojowego | Year: 2011

To investigate the differences in the dietary patterns of Polish overweight and normal weight adolescents. The study was carried out on a group of 1906 pupils from gymnasium (lower secondary school) aged 13-15 years, of whom 953 were overweight and 953 had normal body mass. The sample was taken from a representative group of 8386 pupils. Their height and body weight were measured, and their BMI was calculated. Overweight was defined as BMI ł85 percentile for gender and age. Using the method of "selection in pairs", each overweight pupil was paired with a pupil with normal body weight. The research tool was a self-reported questionnaire, containing questions regarding how often selected food products were usually consumed during the week, how regularly basic meals (breakfast, lunch, supper) were eaten, and data on snacking. Overweight adolescents consumed unhealthy products such as sweets and crisps significantly less often than their peers with appropriate body mass. Overweight girls ate dark bread significantly more often, and consumed soft drinks less often than their peers with normal weight. Overweight adolescents had more irregular meals than those with normal weight: only 44% overweight adolescents had breakfast every day, significantly less than adolescents with normal weight. Nevertheless, overweight teenagers snacked significantly less often than young people with normal body mass. The overweight teenagers also less often chose snacks with high fat content, sugar and salt, and more often vegetables, fruits, as well as yoghurt and kefir. 1. Our study shows that compliance of low energy diet alone does not ensure the maintenance of normal body weight. Irregularity of meals and breakfast skipping play an important role in developing overweight and obesity in adolescents. 2. In future studies on dietary patterns in a larger sample of adolescents, emphasis should be placed on adding questions about portion size, food preparation and meal time. Eating behaviours of parents should be also examined in relation to their body weight.

Derwinska K.,Institute of Mother and Child
Medycyna wieku rozwojowego | Year: 2012

Congenital heart defects are the most common group of major birth anomalies and one of the leading causes of infant deaths. Mendelian and chromosomal syndromes account for about 20% of congenital heart defects and in some cases are associated with other malformations, intellectual disability, and/or dysmorphic features. The remarkable conservation of genetic pathways regulating heart development in animals suggests that genetic factors can be responsible for a significantly higher percentage of cases. Assessment of the role of CNVs in the etiology of congenital heart defects using microarray studies. Genome-wide array comparative genomic hybridization, targeting genes known to play an important role in heart development or responsible for abnormal cardiac phenotype was used in the study on 150 patients. In addition, we have used multiplex ligation-dependent probe amplification specific for chromosome 22q11.2 region. We have identified 21 copy-number variants, including 13 known causative recurrent rearrangements (12 deletions 22q11.2 and one deletion 7q11.23), three potentially pathogenic duplications (5q14.2, 15q13.3, and 22q11.2), and five variants likely benign for cardiac anomalies. We suggest that abnormal copy-number of the ARRDC3 and KLF13 genes can be responsible for heart defects. Our study demonstrates that array comparative genomic hybridization enables detection of clinically significant chromosomal imbalances in patients with congenital heart defects.

Ambroszkiewicz J.,Institute of Mother and Child
Medycyna wieku rozwojowego | Year: 2011

THE AIM of our study was to investigate associations between serum adipocytokines status and anthropometric parameters as well as total energy and macronutrient intake in vegetarian, normal-weight omnivorous and obese omnivorous children. We examined 90 healthy prepubertal children aged 4-10 years who had been referred to the Department of Nutrition at the Institute of Mother and Child in Warsaw for dietary consultation. Patients with endocrine disorders or genetic syndromes, as well as those who were taking medications that could affect growth, pubertal development or nutritional status were excluded. Children were divided into groups: vegetarians (n=30), normal-weight omnivores (n=30) and obese omnivores (n=30). Anthropometric measurement (weight, height) was performed in all children and body mass index (BMI) was calculated. A whole body dual-energy X-ray absorptiometry (DXA) scan was performed to determine fat mass, the percentage of body fat and lean body mass using a Lunar Prodigy (GE, USA). Dietary constituents were assessed by questionnaire (nutrient intake from a 3-day period: 2 weekdays and 1 weekend day) and calculated using the nutritional computer program Dietetyk2®. Serum total cholesterol, high-density and low-density lipoproteins, and triglycerides concentrations were assessed by standard enzymatic methods. Serum levels of leptin, soluble leptin receptor and adiponectin were determined by immunoenzymatic assays. There were no significant differences in body weight, height, BMI and lean mass values between vegetarians and normal-weight children on traditional mixed diet. Children on vegetarian diet had lower fat mass (p<0.05) and fat mass/lean mass ratio (p<0.05) than normal-weight omnivores. However, omnivorous children with simple obesity had significantly higher body weight, height, BMI, fat and lean mass in comparison to vegetarian as well to normal-weight omnivorous children. The fat mass/lean mass ratio in obese children was about 2.5-fold higher than in normal-weight subjects on traditional diet. Total energy and percentage of energy from macronutrients in diets of all children were within the recommended daily intake. Children on vegetarian diet was related with lower fat and higher carbohydrates intake in comparison to their omnivorous peers. Vegetarian children had significantly lower mean total cholesterol (151.5±18.0 mg/dL), low-density lipoprotein (81.0±13.6 mg/dL) and triglycerides (61.6±20.5 mg/dL) than omnivores, especially the obese ones (165.0±22.3 mg/dL, 94.7±19.2 mg/dL, 82.4±32.3 mg/dL, respectively). These differences were statistically significant (p<0.05). Serum concentration of leptin was significantly lower in vegetarian children (3.0±2.1 ng/ml) compared with omnivores (6.8±3.4 ng/ml in normal weight versus 37.8±12.7 ng/ml in obese) (p<0.0001). However, serum soluble leptin receptor as well as adiponectin were at higher levels in vegetarians than in omnivores (p<0.001 and p<0.05, respectively). We observed that serum leptin levels positively and soluble leptin receptor negatively correlated with body mass index and fat mass in prepubertal children. Moreover, leptin levels negatively correlated with its soluble receptor and with adiponectin. In children different kinds of diet might modify not only body mass and lipid profile but also serum concentration of adipocytokines. Determination of leptin and its soluble receptor, as well as adiponectin levels may be clinically useful in the medical and nutritional care of obese as well as vegetarian prepubertal children.

Laskowska-Klita T.,Institute of Mother and Child
Medycyna wieku rozwojowego | Year: 2011

Vegetarian diets are considered to promote health and reduce the risk of some chronic diseases. It is also known that restriction or exclusion of animal foods may result in low intake of essential nutrients. The aim of the presented study was to assess the intake and serum status of vitamin B12, folate, vitamins A, E and D, as well as concentrations of homocysteine, total antioxidant status and iron balance in Polish vegetarian children. The study included 50 children, aged 5-11 who had been referred to the Institute of Mother and Child for dietary consultation. From those, 32 were vegetarians (aged 6.5±4.2 years) and 18 omnivores (aged 7.9±2.7 years). Dietary constituents were analyzed using the nutritional programme Dietetyk2®. Folate and vitamin B12 were determined with a chemiluminescence immunoassay, total homocysteine with a fluorescence polarization immunoassay and TAS (total antioxidant status) by colorimetric method. Vitamin A and E in serum were determined by the high-pressure liquid chromatography method (HPLC) and vitamin D by immunoenzymatic assay (ELISA). Concentrations of iron, ferritin, transferrin and total iron-binding capacity (TIBC) in serum were determined by commercially available kits. In vegetarian children daily intake of vitamin B12 (1.6 ěg) was in the recommended range, that of folate (195 ěg) and vitamin A (1245 ěg) higher, but vitamin E slightly lower (6.6 ěg) and three-fold lower vitamin D (1.1 ěg) than references allowance. Serum concentrations of vitamin B12 (548 pg/ml), folate (12.8 ng/ml), vitamin A (1.2 ěmol/L), vitamin E (15.6 ěmol/l) were within physiological range, but that of vitamin D (13.7 ěg/L) was only half of the lowest limit of the reference value. In vegetarian children in comparison to omnivorous similar levels of homocysteine (6.13 ěmol/L vs 5.45 ěmol/L) and vitamin A (1,17 ěmol/L vs 1.32 ěmol/L) were observed. Lower (p<0.05) values of vitamin E (15.6 ěmol/L vs 18.4 ěmol/L) and TAS (1.21 mmol/L vs 1.30 mmol/L; p<0.0001) were found. Concentrations of iron markers were in physiological range. Obtained results indicated that intakes of vitamin B12 and folic acid from vegetarian diets are sufficient to maintain serum concentrations of both homocysteine and iron in the range observed in omnivorous children. High consumption of vitamin A and low vitamin E only slightly affected their serum values. Significantly lower concentration of serum vitamin E in vegetarian children in comparison to nonvegetarians may be reflected with statistically significant lowering of total antioxidant status. Insufficient intake of vitamin D and its low serum concentration should be under close monitoring in vegetarian children. In order to prevent vitamin D deficiency appropriate age-dependent supplementation should be considered.

Bekiesinska-Figatowska M.,Institute of Mother and Child
Developmental period medicine | Year: 2015

A disease is considered rare if it affects no more than 5 in 10,000 people. More than six thousand rare diseases have been detected so far and they affect 6-8% of the population which equals 2.3-3 million people in Poland. Some of the rare diseases are already diagnosed in utero, e.g. skeletal dysplasias on ultrasonography or central nervous system diseases on magnetic resonance imaging (MRI). Many cases are finally diagnosed after radiologist's suggestion in a radiological report. Although diagnostic imaging cannot be considered as a basis for diagnosis of most of rare diseases, these studies represent an important element in the diagnostic chain. The complicated and long process of diagnosis may be significantly shortened by suggestions of the radiologist, based on the observation of these elements of radiological appearance of the lesions that are characteristic for a particular group of diseases, or even for a particular disease entity. However, the absolute condition for success is the close clinical-radiological cooperation, with clinicians providing the radiologists with their knowledge of patient's history, clinical manifestations, and the results of other investigations.

The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.

Abramowicz A.,Institute of Mother and Child
Developmental period medicine | Year: 2014

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% of NF1 patients, the clinical symptoms become apparent below 1st year and in 97%, before the age of 8 years. The disease is mainly caused by the presence of mutation in the NF1 gene that encodes neurofibromin - a protein involved in the regulation of several cellular signaling pathways responsible for cell proliferation and differentiation. Neurofibromin is necessary for embryonic development and involved mainly in the differentiation of neural crest derived cells, mesenchymal cells, neural cells, melanocytes and bone cells. Type I neurofibromatosis is inherited in autosomal dominant manner, nevertheless about 50% of detected mutations are de novo ones. The mutations have full penetrance, although they also have significant pleiotropic effect. Over 1485 different mutations have been identified in the NF1 gene so far, most of which lead to a synthesis of truncated, non-functional protein. It is estimated that the point mutations are responsible for approximately 90% of cases of NF1. The remaining 5-7% of NF1 cases are associated with the presence of a single exon or whole NF1 gene deletion (17q11.2 microdeletion syndrome). The article discusses the role of neurofibromin in cell signaling with the special attention to RAS/MAPK pathway regulation as well as in organism development. Also the basic methods of molecular analysis of NF1 gene are presented in the context of their application in the diagnosis and clinical differentiation of the disease.

Taybert J.,Institute of Mother and Child
Developmental period medicine | Year: 2015

Several years ago genetic counseling with the estimation of the risk of the disease in the next pregnancies of the same parents was the only offer for the family with a child with an inborn error of metabolism (IEM). Nowadays diagnostics and treatment of IEM improve. So there are more and more adult patients thinking about having their own offspring. Each woman with IEM who wants to have own child needs special medical care from preconception time up to postpartum period. Depending on the type of disease, such elements as the mother's diet and medicines used for her treatment may influence the foetus and child health and development. In the opposite the growing foetus may have an influence on mother's metabolic status and on her health complications. Therefore interdisciplinary team of specialists should be involved in the health care of women with inborn errors of metabolism.

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