A clinical multicenter study of orofacial features in 26 brazilian patients with different types of mucopolysaccharidosis.

PURPOSE: This study aimed to describe the orofacial features of 26 unrelated Brazilian patients with mucopolysaccharidosis and to verify any possible associations between these findings and specific types of mucopolysaccharidosis. METHODS: Patients were diagnosed with mucopolysaccharidosis and clinically evaluated. Following consent, a clinical assessment form was completed. Facial and intraoral examination was performed by evaluating facial pattern, malocclusions, dental caries, and tooth identification. RESULTS: Midface deficiency, increased lower facial third, anterior open bite, convex profile, macroglossia, gingival enlargement, and spaced arches were the most frequently observed features. These findings did not allow a differential diagnosis among the different types of mucopolysaccharidosis, except for pitting enamel, which significantly associated with mucopolysaccharidosis IVA (P < .001). Open bite was associated with mucopolysaccharidosis types I, II, III, and VI; however, only one patient with mucopolysaccharidosis IVA expressed this feature (P = .043). CONCLUSIONS: Our results suggest that pitted enamel in patients with mucopolysaccharidosis is most likely a feature of mucopolysaccharidosis type IVA; whereas, open bite is rarely observed in these patients. Orofacial features in mucopolysaccharidosis may help pediatric dentists recognize this disorder and minimize the delay between the initial signs/symptoms and diagnosis of the disease. Future studies should focus on the longitudinal manifestations, expression, and severity of mucopolysaccharidosis-associated orofacial anomalies.

Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential diagnosis of every case of cardiomyopathy presenting during the first year of life.

Exergaming as a strategic tool in the fight against childhood obesity: a systematic review.

Improper use of electronic media is considered a major contributing factor to childhood obesity. However, exergames, a new generation of active games, have made it possible to combine electronic entertainment with physical exercise. The purpose of this systematic review was to analyze the use of exergaming as a strategic tool in the fight against childhood obesity. Information was retrieved from the databases SciELO, LILACS, Pubmed, Ebsco, and Science Direct, using the search words "egames," "exergames," "exergaming," "new generation of video games," "active video games," "energy expenditure," "body composition," and "physical activity" in English and Portuguese, covering the period January 2008 to April 2012. Nine articles met the inclusion criteria. Exergaming was found to increase physical activity levels, energy expenditure, maximal oxygen uptake, heart rate, and percentage of physical activity engaged in and to reduce waist circumference and sedentary screen time. Thus, exergaming may be considered a highly relevant strategic tool for the adoption of an active and healthy lifestyle and may be useful in the fight against childhood obesity.

Eosinophilic esophagitis in brazilian pediatric patients.

We examined 11 pediatric patients with eosinophilic esophagitis with a tardy diagnosis. The symptoms were initially thought to be related to other diseases, leading to the use of inadequate therapeutic approaches. The patients were between 3 and 17 years old (mean 7.8 ± 3.8 years), and 8 of the patients were male. Common symptoms included abdominal pain, regurgitation, difficulty in gaining weight, vomiting, dysphagia, and coughing. The mean age for the onset of symptoms was 4.3 ± 2.9 years. Endoscopic findings included normal mucosa in five (45%) patients, thickening of the mucosa with longitudinal grooves in three (27%), erosive esophagitis in two (18%), and a whitish stippling in one (9%) patient. Treatment included the use of a topical corticosteroid for 10 patients. In eight (73%) cases, the treatment made the symptoms disappear. Ten patients underwent histopathological management after treatment, with a decrease in the number of eosinophils.

Measurement of salivary cortisol as a marker of stress in newborns in a neonatal intensive care unit.

AIMS: The study was designed to evaluate the newborn (NB) stress response during the inpatient time in the neonatal intensive care unit. METHODS: A quantitative, prospective, observational study was conducted with two NB groups. The first group consisted of 12 NB patients in the neonatal intensive care unit as the experimental group (EG), and the second included 43 NBs who were sent to their own homes and were considered the control group (CG). The EG's salivary cortisol concentration was measured on the 2nd day (D2) and 9th day (D9) of life. The CG's salivary cortisol concentration was measured on the 14th day of life at the child's own home. RESULTS: The salivary cortisol concentration levels for the EG on D2 and D9 and for the CG were 4.3151 ± 2.6492, 1.826 ± 1.2252, and 1.0166 ± 0.8300 ng/dl, respectively. These findings indicated the presence of an adrenal response to stress during the first inpatient days. CONCLUSIONS: The salivary cortisol concentration is an accurate method to indicate neonatal stress. The glucocorticoids frequently used in the prenatal period suppress the adrenal glands and interfere with the stress response.

Bite force in patients who are candidates for gastroplasty.

BACKGROUND: Chewing is composed of structures that must be balanced to achieve optimal function and bite force is one of the components of this function. AIM: To analyze the bite force of candidates for bariatric surgeries. METHOD: Was used surface electromyography Miotool 200/400 (Miotec® , Porto Alegre/RS, Brazil) coupled to bite load cell, SDS1000 sensor, to record the maximum force reading during the execution of the bite. The device was integrated with software Miograph 2.0. Inclusion criteria were: morbidly obese patients regardless of gender, age 20-40 years, no absences and/or important dental changes and candidates for gastroplasty. Were studied the bites in left and right lateral position and their intensity measured in kilogram force (kgf). The exclusion criterion was that of patients who had facial deformities and/or occlusal position preventing any collection. RESULTS: Were analyzed 39 patients (59 % women), mean age 27.1 (+/-5.7). They had anterior bite force in average 9.1 kgf (min 1.3 and max 22.9 kgf - +/-5.2 ); left side with average 16.3 kgf (min 1.5 and max 55.6 kgf - +/-11.9); right side with average of 14.0 kgf (min 2.3 and max 45.3 kgf - +/-9.4 ). CONCLUSION: The bite force was inferior to those described for the general population and the gender did not have any influence on it.

Adductor pollicis muscle thickness: a promising anthropometric parameter for patients with chronic renal failure.

INTRODUCTION: Protein-calorie malnutrition is a prevalent disorder in chronic renal failure (CRF) and a major risk factor for increased mortality in hemodialysis (HD) patients. Although many methods have been used to assess malnutrition in CRF, the role of adductor pollicis muscle thickness (APMt) is not established yet. AIMS: This study aimed to analyze the APMt in HD patients and to investigate the correlation between APMt and conventional anthropometric, laboratory, and bioelectrical impedance markers, as well as its association with mortality/morbidity in a period of 12 months of follow-up. SUBJECTS AND METHODS: The study included 143 HD patients from a single facility. After dialysis, the dry weight, height, mid-arm circumference, triceps skinfold thickness, and APMt were measured. Subsequently, the body mass index, percentage of standard body weight, the mid-arm muscle circumference, and the mid-arm muscle area were calculated. Blood counts were performed for hemoglobin, creatinine, and albumin. Patients were also submitted to a single-frequency tetrapolar bioimpedance test for measuring resistance, reactance, phase angle, and percentage of body cell mass. The correlation between APMt and anthropometric, laboratory, and bioelectrical impedance parameters was calculated using Pearson's linear correlation. Multiple linear regression analysis was used to select independent risk factors to death and hospitalizations in 6 and 12 months of follow-up, among parameters selected by univariate analysis. RESULTS: Patients were aged 52.2 ± 16.6 years (20 to 83 years) on average, 58% were men, and mean dialysis vintage was 5.27 ± 5.12 years. APMt was 11.85 ± 1.63 mm (men, 12.34 ± 1.53; women, 11.19 ± 1.51; P < .0001). APMt was positively correlated with body mass index (r = 0.37; P < .0001), mid-arm circumference (r = 0.437; P < .0001), mid-arm muscle circumference (r = 0.494; P < .0001), mid-arm muscle area (r = 0.449; P < .0001), percentage of standard body weight (r = 0.355; P = .000), creatinine (r = 0.230; P = .006), albumin (r = 0.207; P = .013), percentage of body cell mass (r = 0.293; P = .000), and phase angle (r = 0.402; P < .0001), and negatively correlated with resistance (r = -0.403; P < .0001). The APMt ≤10.6 mm was associated with a 3.3 times greater risk of hospitalization within 6 months of follow-up (OR = 3.3, 95% CI: 1.13 to 9.66; P = .029) compared with patients with an APMt >10.6 mm. The APMt was not associated with risk of death at 6 and 12 months or hospitalization within 12 months of follow-up. CONCLUSION: This is the first study testing APMt as an anthropometric marker in HD patients. The parameter is easy to measure and does not seem to be significantly affected by variations in hydration status. The parameter was significantly correlated with markers reflecting the condition of the muscle compartment, but not with parameters estimating the fat mass. The determination of an APMt cutoff point for malnutrition in patients with CRF and its correlation with morbidity and mortality will require further investigation in clinical studies.

Effect of diet intervention and oral zinc supplementation on metabolic control in Berardinelli-Seip syndrome.

BACKGROUND/AIMS: Berardinelli-Seip syndrome (BSS), also termed congenital generalized lipodystrophy or congenital generalized lipoatropic diabetes, is a rare autosomal recessive disease characterized by the nearly complete absence of metabolically active adipose tissue from birth, extreme insulin resistance, diabetes mellitus, and hepatomegaly. The aim of this study was to evaluate the effect of diet intervention and oral zinc supplementation on the metabolic control of BSS patients. METHODS: During a 3-month period, 10 BSS patients received individualized diets and oral zinc supplementation. Food intake, clinical laboratory parameters, serum zinc and leptin, and plasma C-peptide concentrations were evaluated at the beginning of the study and after 3 months. RESULTS: At the beginning of the study, all patients had elevated energy, protein, total fat, carbohydrate, calcium, iron, and zinc intakes. After 3 months, all of these parameters had decreased. Total fiber intakes remained low before and after diet intervention and oral zinc supplementation, and plasma levels of fasting glucose remained high. In contrast, glycated hemoglobin decreased significantly. Plasma leptin, C-peptide, and serum zinc levels increased during venous zinc tolerance testing, but there were no significant differences between the 2 curves obtained before and after diet intervention and oral zinc supplementation. CONCLUSIONS: Diet intervention and oral zinc supplementation were effective at controlling energy consumption, macronutrients, and glycated hemoglobin. Zinc likely acts as an adjunct therapy, thereby improving the effectiveness of leptin.

Demirjian's system for estimating the dental age of northeastern Brazilian children.

Since Demirjian's system of estimating dental maturity was first described, many researchers from different countries have tested its accuracy among diverse populations. Some of these studies have pointed out a need to determine population-specific standards. In Brazil, the Northeast region is the one that most suffers the negative impact of exodus, specially related to the increase of abandoned children in the cities. The aim of this study was to test the accuracy of Demirjian's system for assessing the dental maturity of northeastern Brazilian children, so as to present a scale for maturity score conversion into dental age developed specifically for this population. This could be used for forensic, anthropological and legal matters, and also as a model for other countries attempting to formulate their own conversion scales. Panoramic radiographs of 1,491 children (821 females and 670 males), aged 7 to 13 years, from Ceará state, northeast Brazil, were assessed by a single observer to determine dental age (DA) according to Demirjian's system. The mean percentage of intra-observer agreement was 86.6%, with a mean Cohen's Kappa coefficient of 0.67 (substantial agreement). The DA was compared by paired t-test to subjects' chronological age (CA). The differences between CA and DA in all age groups were statistically significant (p<0.0001), demonstrating a great advancement in DA among Brazilians. Scatter plots were drawn for both genders, and the data were fitted to a growth curve, y=100/(1+e(-a(x)-(b))). Graphs corresponding to the 50(th) percentile curves were produced. A table with new values for the conversion of maturity score into dental age for northeastern Brazilian children is presented. The great advancement in DA, as obtained by Demirjian's system in this population, justified the determination of specific scores for dental maturity assessment.

Sensitivity of zinc kinetics and nutritional assessment of children submitted to venous zinc tolerance test.

OBJECTIVE: The purposes of this study were to investigate the kinetics of zinc in schoolchildren between the ages of 6 and 9 years, of both sexes, and to verify its sensitivity in detecting alterations in body zinc status. METHODS: Nutritional assessment was performed by body mass index. Food intake, venous zinc tolerance test, and zinc kinetics were carried out before and after 3-month oral zinc supplementation. RESULTS: Of the 42 children studied, 76.2% had healthy weight. Only energy, calcium, and fiber intake were suboptimal before and after oral zinc supplementation. Serum zinc and total-body zinc clearance, although at normal levels, increased significantly after zinc supplementation. CONCLUSION: We concluded, therefore, that kinetics is a sensitive tool for detecting changes in body zinc status, even in children without a deficiency of this mineral. Furthermore, kinetics showed a positive response to supplementation and may be a sensitive parameter for evaluating the efficacy of this therapy.

The application of an occupational therapy nutrition education programme for children who are obese.

The aim of this study was to evaluate an occupational therapy nutrition education programme for children who are obese with the use of two interactive games. A quasi-experimental study was carried out at a municipal school in Fortaleza, Brazil. A convenient sample of 200 children ages 8-10 years old participated in the study. Data collection comprised a semi-structured interview, direct and structured observation, and focus group, comparing two interactive games based on the food pyramid (video game and board game) used individually and then combined. Both play activities were efficient in the mediation of nutritional concepts, with a preference for the board game. In the learning strategies, intrinsic motivation and metacognition were analysed. The attention strategy was most applied at the video game. We concluded that both games promoted the learning of nutritional concepts. We confirmed the effectiveness of the simultaneous application of interactive games in an interdisciplinary health environment. It is recommended that a larger sample should be used in evaluating the effectiveness of play and video games in teaching healthy nutrition to children in a school setting.