Differences between patients who achieved asthma control and those who remain uncontrolled after standardized severe asthma care strategy.

OBJECTIVE: To assess clinical, functional, and inflammatory patterns of children and adolescents with severe uncontrolled asthma, and investigate the differences between patients who achieved asthma control and those who remain uncontrolled after standardized asthma care strategy. METHODS: Screening all children and adolescents with asthma from the Pediatric Pulmonology Outpatient Clinic of Unicamp, Brazil, and included those with severe uncontrolled asthma according to GINA guidelines criteria. Patients were assessed at baseline and after by demographic and medication data, questionnaires (Asthma Control Test and Pediatric Asthma Quality of Life Questionnaire), Six-Minute Walk Test, skin prick test, spirometry, induced sputum, and blood collection (total immunoglobulin E and eosinophil count). Cytokine dosage was analyzed in sputum supernatant and serum by Cytometric Bead Array. RESULTS: Thirty-three patients with severe uncontrolled asthma were included (median age 10.9 [7.00-17.60] years). All patients presented satisfactory adherence to treatment and 50% of them achieved good asthma control after six-month follow-up (p < 0.001). Patients who achieved asthma control reported higher intervals since their last exacerbation episode (p = 0.008) and higher quality of life scores (p < 0.001) as compared to patients who remained uncontrolled. We found no changes in lung function markers, inflammatory biomarkers, or cytokine levels between patients with uncontrolled and controlled asthma. CONCLUSION: Participation of six months in a structured outpatient clinic for children with severe asthma had a notable improvement in control and quality of life of patients. This demonstrates the importance of a global assessment, focused on peculiarities presented by patients with severe uncontrolled asthma.

Acute-subacute paracoccidioidomycosis: A paediatric cohort of 141 patients, exploring clinical characteristics, laboratorial analysis and developing a non-survival predictor.

The acute-subacute form of paracoccidioidomycosis (PCM) is a severe systemic mycosis that affects children and adolescents from endemic regions, leading to generalised lymphadenopathy, fever, weight loss, anaemia, eosinophilia, hypoalbuminemia and hypergammaglobulinemia. The objective of this study is to describe the clinical and laboratorial characteristics of acute-subacute PCM, to determine a mortality risk factor and to propose a test for non-survival hazard related to the disease. Children and adolescents diagnosed with PCM, under 15 years were included in the study. Their epidemiological, clinical and laboratorial data were obtained from the hospital records. Descriptive analysis, comparison of means, univariate logistic regression, multivariate logistic regression and a ROC curve were performed in order to identify significant information (P < .05). Through a period of 38 years, 141 children and adolescents were diagnosed with acute-subacute PCM. The main antifungal agent used for the treatment was sulfamethoxazole-trimethoprim (SMX-TMP). The complication rate was 17%, the relapse rate was 7.8% and the mortality rate was 5.7%. A low albumin dosage was identified as a predictor factor for mortality. The cut-off for serum albumin was 2.18 g/dL, above which, the survival rate is 99.1%. Thus, simple clinical and laboratorial examinations may lead to the diagnosis of acute-subacute PCM, and the beginning of the treatment is encouraged even before the isolation of the fungus in biological samples, preventing unfavourable outcomes. Patients with an albumin dosage ≤ 2.18g/dL must receive special attention, preferably hospitalised, during the first four weeks of treatment for presenting an elevated mortality hazard.

Factors affecting diagnosis of primary pediatric central nervous system neoplasias in a developing country.

PURPOSE: Understand the variables that could interfere with diagnosis and prompt treatment in CNS childhood cancer in Brazil, a developing country with continental dimensions. METHODS: From 2005 to 2010, we retrospectively evaluated factors, which could represent a negative influence on the time period elapsing from the onset of symptoms until the diagnosis of the central nervous system (CNS) neoplasia in children and adolescents attended in our service. RESULTS: Two hundred seventeen records were analyzed retrospectively. Factors of the households were evaluated, and this data was related to the time period elapsing from presentation of the first symptoms until the diagnosis of CNS neoplasia. The average time elapsed from the onset of the symptoms until seeking medical assistance was 96 days, and from medical assistance to patient referral to a reference service was 33 days. The symptoms which most contributed to a shorter delay in diagnosis were changes in gait and paresis, mother's occupation, father's education level, patient gender, and living in the state of São Paulo. Besides that, variables such as male gender, mother's education level, and lower patient age were associated with an early diagnosis time. CONCLUSION: There is great difficulty in performing early diagnosis of CNS tumors, partly due to parent's inability to recognize signs and symptoms, and in part due to an educational deficit among healthcare professionals. Identification of measures that can minimize these causes of delay is fundamental to increasing the chance of cure and survival of these patients.

Transthyretin and Nutritional Status in Critically Ill Adults on Parenteral Nutrition: A Prospective Cohort Study.

BACKGROUND AND AIMS: Correctly characterizing malnutrition is a challenge. Transthyretin (TTR) rapidly responds to adequate protein intake/infusion, which could be used as a marker to identify malnutrition. Nutritional therapy is used to prevent malnutrition. Parenteral nutrition (PN) requires daily monitoring to determine whether what is being offered is adequate. This article aims to investigate whether the practice of measuring TTR is justified. METHODS: Data from patients admitted to the ward or intensive care unit (ICU) were collected at three different times: within the first 72 h (T1) of PN use, on the 7th day (T2), and the 14th day (T3) after the initial assessment. RESULTS: 302 patients were included; the average age was 48.3 years old; the prevalence of death was 22.2%, and 61.6% of the sample were male. TTR values and the effectiveness of nutritional support in these patients were not associated with the outcome; however, meeting caloric needs was related to the outcome (p = 0.047). No association was found when TTR values were compared to the nutritional status. Thus, TTR was not a good indicator of nutritional risk or nutritional status in hospitalized patients. CONCLUSIONS: Undoubtedly, the TTR measurement was inversely proportional to CRP measurements. It was possible to conclude in this follow-up cohort of hospitalized patients that TTR values were not useful for determining whether the patient was malnourished, predicting death or effectiveness of nutritional support, yet based upon our analyses, a decrease in TTR greater than 0.024 units for every 1 unit increase in CRP might be due to ineffective nutritional supply.

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome.

Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Standard reference and percentiles of maximum respiratory pressures values of healthy children aged 7-10 years.

OBJECTIVE: This study aims to present standard reference for values of maximum respiratory pressures of healthy schoolchildren, according to gender. METHODS: This is a cross-sectional study involving healthy children aged 7-10 years. Data of body mass and height were evaluated to calculate body mass index (BMI). In addition, forced expiratory volume in 1 second (FEV1) and maximal expiratory pressure values were evaluated according to the American Thoracic Society. The maximal inspiratory pressure (MIP) and data of maximal expiratory pressure (MEP) obtained in the study showed normal distribution and curves were built by the Lambda-Mu-Sigma (LMS) method, as well as the values of MIP and MEP percentiles 3, 10, 25, 50, 75, 90, and 97 for each gender. RESULTS: MIP and MEP data were collected from 399 schoolchildren. All schoolchildren in the sample had adequate FEV1 and BMI. The study showed an increase in respiratory pressure values with age progression. The MIP and MEP values of girls were of 53.4±11.0 and 61.8±12.5cmH2O, respectively, and those of boys were 59.9±13.6 and 69.6±15.7cmH2O, respectively. CONCLUSIONS: Normal curves and percentiles were developed for MIP and MEP values of healthy schoolchildren. The extreme percentiles (3rd and 97th) were determined, and a specific graph was elaborated for each group. These graphs may help clinical follow-up and therapeutic monitoring of different pediatric populations.

Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?

OBJECTIVE: To determine whether abnormal continuous glucose monitoring (CGM) readings (hypoglycemia/hyperglycemia) can predict the onset of cystic fibrosis-related diabetes (CFRD) and/or clinical impairment (decline in BMI and/or FEV1) in pediatric patients with cystic fibrosis (CF). METHODS: This was a longitudinal prospective cohort study involving CF patients without diabetes at baseline. The mean follow-up period was 3.1 years. The patients underwent 3-day CGM, performed oral glucose tolerance test (OGTT), and had FEV1 and BMI determined at baseline. OGTT, FEV1, and BMI were reassessed at the end of the follow-up period. RESULTS: Thirty-nine CF patients (10-19 years of age) had valid CGM readings at baseline, and 34 completed the follow-up period (mean = 3.1 ± 0.5 years). None of the study variables predicted progression to CFRD or were associated with hypoglycemic events. CGM could detect glucose abnormalities not revealed by OGTT. Patients with glucose levels ≥ 140 mg/dL, as compared with those with lower levels, on CGM showed lower BMI values and z-scores at baseline-17.30 ± 3.91 kg/m2 vs. 19.42 ± 2.07 kg/m2; p = 0.043; and -1.55 ± 1.68 vs. -0.17 ± 0.88; p = 0.02, respectively-and at the end of follow-up-17.88 ± 3.63 kg/m2 vs. 19.95 ± 2.56 kg/m2; p = 0.039; and -1.65 ± 1.55 vs. -0.42 ± 1.08; p = 0.039. When comparing patients with and without CFRD, the former were found to have worse FEV1 (in % of predicted)-22.67 ± 5.03 vs. 59.58 ± 28.92; p = 0.041-and a greater decline in FEV1 (-36.00 ± 23.52 vs. -8.13 ± 17.18; p = 0.041) at the end of follow-up. CONCLUSIONS: CGM was able to identify glucose abnormalities not detected by OGTT that were related to early-stage decreases in BMI. CGM was ineffective in predicting the onset of diabetes in this CF population. Different diagnostic criteria for diabetes may be required for individuals with CF.

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study.

BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.

Are there differences in the physical activity level and functional capacity among children and adolescents with and without asthma?

OBJECTIVE: The aim of this study was to analyze the physical activity level, using two tools, and the functional capacity of children and adolescents with asthma and with different levels of disease control, and to compare them to those of individuals without asthma. METHODS: Cross-sectional study with children and adolescents with (asthma group, AG) and without asthma (WAG), aged from 7 to 17 years. All participants performed the six-minute walk test (6MWT), the Glittre Activities of Daily Living test (Glittre-ADL), the International Physical Activity Questionnaire (IPAQ), and daily record of steps on a pedometer. RESULTS: The study included 145 individuals with asthma and 173 individuals without asthma. The WAG walked a greater distance in the 6MWT and performed the Glittre-ADL in less time than the AG. Individuals with uncontrolled, partially controlled, and controlled asthma presented the same functional capacity. A difference was observed in the IPAQ classification, with 13.9% of participants from the WAG being sedentary, compared with 26.2% in the AG. The mean quantity of steps measured by the pedometer was higher in the WAG. CONCLUSION: There was a difference in the performance of individuals with and without asthma in the physical activity and functional capacity tests. The AG presented worse performance in the physical activity tests and, regardless of the level of asthma control, presented worse functional capacity.

Risk factors for recurrent wheezing in preterm infants who received prophylaxis with palivizumab.

OBJECTIVE: To determine the prevalence of recurrent wheezing (RW) in preterm infants who received prophylaxis against severe infection with respiratory syncytial virus (RSV) and to identify genetic susceptibility (atopy or asthma) and risk factors for RW. METHODS: This was a cross-sectional study involving preterm infants who received prophylaxis with palivizumab at a referral center in Brazil during the first two years of age. A structured questionnaire was administered in a face-to-face interview with parents or legal guardians. RESULTS: The study included 410 preterm infants (median age = 9 months [0-24 months]). In the sample as a whole, 111 children (27.1%; [95% CI, 22.9-31.5]) had RW. The univariate analysis between the groups with and without RW showed no differences regarding the following variables: sex, ethnicity, maternal level of education, gestational age, birth weight, breastfeeding, number of children in the household, day care center attendance, pets in the household, and smoking caregiver. The prevalence of RW was twice as high among children with bronchopulmonary dysplasia (adjusted OR = 2.08; 95% CI, 1.11-3.89; p = 0.022) and almost five times as high among those with a personal/family history of atopy (adjusted OR = 4.96; 95% CI, 2.62-9.39; p < 0.001) as among those without these conditions. CONCLUSIONS: Preterm infants who received prophylaxis with palivizumab but have a personal/family history of atopy or bronchopulmonary dysplasia are more likely to have RW than do those without these conditions.

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development.

OBJECTIVE: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (rhCG) stimulus in children with 46,XY disorders of sex development (DSD). METHODS: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non-gonadectomized. Testosterone, dihydrotestosterone (DHT), DHEA and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analyzed by the intraclass correlation coefficient (ICC) and Spearman's rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used. RESULTS: Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS. CONCLUSION: Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

Assessment of asthma control among different measures and evaluation of functional exercise capacity in children and adolescents with asthma. / Avaliação do controle da asma entre diferentes medidas e avaliação da capacidade de exercício funcional em crianças e adolescentes com asma.

Objective To assess the agreement among asthma control measures and functional exercise capacity in children and adolescents with uncontrolled and controlled asthma. Methods Children and adolescents with asthma from 7-17 years old were selected, and they were attended in the "Pediatric Pulmonology Outpatient Clinic of State University of Campinas", in Brazil. All patients had asthma control level assessed by Global Initiative for Asthma questionnaire (GINAq), Asthma Control Test (ACT), spirometry and six-minute-walk-test (6MWT). Patients were classified as uncontrolled or controlled asthma in each test and agreement among measures was assessed by kappa statistics. The ROC curve was calculated for the 6MWT. The spirometric index obtained from spirometry was composed by FEV1, FEV1/FVC and FEF25-75%. Spirometry and 6MWT results were compared between uncontrolled and controlled asthma group by GINAq. Results Of the 138 subjects included, 78 (56.5%) were male with median age of 11 (7-17) years old. GINAq detected 68.8% of patients with uncontrolled asthma. Moderate agreement (p < 0.001; k = 0.56) and high specificity (100%) was observed between GINAq and ACT. In 6MWT, the cut-off point of 82.03% of predicted distance was able to distinguish patients with controlled and uncontrolled asthma. Spirometric index presented 73.4% of sensitivity according to GINAq. The results for 6MWT in patients with uncontrolled asthma were the worst of all. Conclusion This study highlights the importance of assessing more than one measure to differentiate asthma control level. GINAq identified more patients with uncontrolled asthma and presented moderate agreement with ACT. Spirometric index was associated with uncontrolled asthma according to GINAq. 6MWT was a suitable measure to distinguish patients with controlled and uncontrolled asthma.

[Factors associated with insufficient birth weight]. / Fatores associados ao peso insuficiente ao nascimento.

OBJECTIVE: To identify risk factors for insufficient birth weight, in the Brazilian city of Campinas from the Live Birth Certificates. METHODS: A cross-sectional study was conducted consulting data from 14,444 Live Birth Certificates from the year 2001. These newborn birth weights ranged from 285g to 5,890g (mean 3,142g), 65.1% of them weighted 3,000g or more, while 25.7% had insufficient weight. A sample of 12,779 term newborn from single pregnancies, with a birth weight > 2,500g was selected. Birth weight was the dependent variable and maternal, pregnancy, delivery and newborn characteristics were the independent variables. Association among variables was assessed by Chi-square test, crude odds-ratio (OR) was calculated. For adjusted odds-ratio (adjOR) values, a logistic regression model was used. RESULTS: Results showed association between insufficient birth weight and newborn of the female gender (adjOR = 1.57 [95%CI 1.44 - 1.70]), birth from primiparous mothers (adjOR = 1.47 [95%CI 1.35 - 1.60]), inadequate prenatal care (adjOR = 1.42 [95%CI 1.29 - 1.58]) and vaginal delivery (adjOR = 1.23 [95%CI 1.13 - 1.34]). CONCLUSION: The risk for insufficient birth weight was higher for female newborn, offspring of primiparous women, of women who had inadequate prenatal care and had vaginal delivery.

Resilience and mental health problems in children and adolescents who have been victims of violence.

OBJECTIVE: To understand the process of resilience (social support and resources of the family environment) and the chance of mental health problems in children and adolescents (9-16 years) who have been victims of domestic violence, assisted in specialized services (Group 1 - G1) and in school services without reports of domestic violence (Group 2 - G2). METHODS: Various semi-structured instruments were applied to the pairs (guardian and child or adolescent): the Strengths and Difficulties Questionnaire (SDQ); the Resiliency Scales for Children and Adolescents (RSCA), including Scale I (SI - sense of control), Scale II (SII - relationship skills) and Scale III (SIII - emotional reactivity); the Social Support Appraisals; the Home Environment Resources Scale and a questionnaire created by the authors to characterize the population. RESULTS: There was no difference in the prevalence of resilience between G1 and G2. Children and adolescents of both groups had a higher chance of low resilience in the absence of perception of social support from the teacher (SI; SIII) and other people in the community (SI; SII). Girls had higher chance of low resilience (SIII). The establishment of routine or rules in the lives of the children and adolescents facilitated the development of resilience (SIII). In G1, the prevalence of mental health problems was 65% for the self-application version of the SDQ for children and adolescents (SDQ/CA) and 54% for the version answered by the guardians (SDQ/G). In G2, it was 33% for SDQ/CA and 37.9% for SDQ/G. Domestic violence against children and adolescents was a risk factor for the development of mental disorders (SDQ/G). Subjects with low resilience (SI) had a higher chance of developing mental health problems (SDQ/CA). Despite originating from the same regions, the groups had socioeconomic differences, which showed no relationship with resilience. CONCLUSIONS: The quality and perception of social support and resources present in the home environment may have facilitated the development of resilience in the studied children and adolescents. Violence may have increased the chance of mental health problems, domestic violence being an aggravating factor. There is need for research on aspects that predict resilience and investment in intervention strategies for this population, as a way to promote mental health.

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references.

Our aim was to evaluate the cost-effectiveness of a minimal lymphocyte subset quantification (LSQ) by flow cytometry as the first screening in children with clinically suspected primary immunodeficiency (PID). Two hundred sixty-eight Brazilian patients (0-21 years old) were studied. They were divided by clinical and phenotypical features into those fulfilling criteria for PID (PID phenotype) according to the 2017 International Union of Immunological Societies (IUIS) classification and those not fulfilling these criteria (non-PID phenotype). We evaluated how many patients had values below the 10th percentile for five lymphocyte subsets in peripheral blood, (suggestive of PID) according to reference values for Brazil, Italy and USA. Three lymphocyte subsets (T CD3/CD4, B CD19 and NK CD16/CD56) had p-value < 0.05 and Odds Ratio (OR) indicating a risk at least two times higher for the diagnosis of a PID phenotype. The application of Kappa coefficient (k) on Brazilian vs Italian and Brazilian vs US data sets resulted in k compatible with strong or excellent level of agreement between the three classification systems. The authors conclude that a number of CD3+ /CD4+ , CD19+ and CD16+ /CD56+ (NK) cells in peripheral blood <10th percentile represented a significant risk for the diagnosis of PID in this cohort. Natural killer (NK) deficiency is quite rare and has a very specific clinical profile. So, the analysis of these cells could be requested only in some cases, saving even more costs. The minimal immunophenotyping, with quantification of T CD4+ , CD19+ and in some cases CD16+ /CD56+ cells, may be a useful tool for the first screening of PID, saving costs, especially in developing countries.

[Diabetic ketoacidosis in children: treatment profile at a university hospital]. / Cetoacidose diabética em crianças: perfil de tratamento em hospital universitário.

OBJECTIVE: To evaluate the profile of children with diabetic ketoacidosis (DKA) treated at the UNICAMP 'Hospital de Clínicas'. METHODS: Retrospective and descriptive study of clinical and laboratory variables of 74 admissions related to 49 patients bearers of DKA, between January 1994 and December 2003. RESULTS: Twelve patients were admitted more than once, 27 were females and ages ranged from 0.9 to 14.5 years. The mean time from DM1 diagnosis to admission was 3+/-3.1 years and 20 cases presented with DKA at the onset of DM1. DKA was severe in 51% and moderate in 30%, at admission 17 patients presented with shock and 13 coma. The time needed for normalization of glycemia, pH, and bicarbonate had a significant positive correlation with the initial value. Intravenous bicarbonate was administered in only 3 admissions. The initial potassium value ranged from 3.1 to 5.9 mEq/l; in 8% the value was lower than 3.5 and in 62% higher than 4.5. Hypoglycemia occurred in 10 admissions and cerebral edema and death in one. The total time of treatment had a significant correlation with the time of fluid replacement, place of admission and time needed for pH normalization. CONCLUSION: The analyzed sample showed a predominance of female patients, less than ten years of age with a severe manifestation of the disease. However, evolution was good with few complications. Most of the admissions refer to a small number of patients.

Hypercholesterolemia and hypertriglyceridemia as risk factors of liver dysfunction in children with inflammation receiving total parenteral nutrition.

BACKGROUND AND AIMS: Hepatic dysfunction, due to parenteral nutrition, may become severe and lead to cirrhosis and hepatic failure, especially in newborns and infants. This study aimed to evaluate the association between the exclusive use of total parenteral nutrition (TPN) and changes in the hepatic profile, and to investigate the relationship between age, hypertriglyceridemia, and hypercholesterolemia, and the occurrence of laboratory liver dysfunction. METHODS: A descriptive and historical cohort study was conducted, evaluating 195 pediatric patients (age: 1 month to 19 years) who received TPN. The following hepatic and lipid profiles were assessed: alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase, gamma-glutamyl transferase (GGT), bilirubin, triglycerides (TGs), cholesterol, high-density lipoprotein (HDL), albumin, and transthyretin. High C-reactive protein and/or low HDL were considered indicative of inflammatory process. RESULTS: The majority of patients presented normal values of AST (79.2%), ALT (74.9%), GGT (56.4%), and alkaline phosphatase (68.1%). Total bilirubin changed in 68.5% of patients, and transthyretin and albumin were low in 87.3% and 65.1% of the patients, respectively. Incidences of high GGT values were related to age (odds ratio [OR], 2.46; confidence interval [CI] 1.28-4.76; p = 0.007), hypercholesterolemia (OR, 3.00; 95% CI, 1.24-7.25; p = 0.015), and hypertriglyceridemia (OR, 2.39; 95% CI, 1.02-5.60; p = 0.046). Incidences of elevated ALT values were associated with hypercholesterolemia (OR, 4.57; 95% CI, 2.03-10.30; p < 0.001). CONCLUSION: Monitoring the hepatic profile from the early stage of TPN is necessary. Changes in the plasma lipid and hepatic profiles were frequently observed during the infusion of TPN, in patients with inflammation. Patients >2 years old and those with high TG and HDL levels were more likely to have elevated GGT levels. Hypercholesterolemia was associated with ALT alterations. Strategies to attenuate these issues should be considered in the early stages, in patients with TPN.

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Continuous glucose monitoring to evaluate glycaemic abnormalities in cystic fibrosis.

OBJECTIVE: This study aimed to determine the glycaemic profile of patients with cystic fibrosis using a continuous glucose monitoring system (CGMS), and to evaluate the associations of glycaemic abnormalities with sex, age, pubertal stage, CFTR gene mutations, nutritional status, lung function, oral glucose tolerance test, glycated haemoglobin concentrations, fasting insulin concentrations, C peptide concentrations and exocrine pancreatic function. STUDY DESIGN: This observational study evaluated CGMS data from 39 patients with cystic fibrosis who were treated at a referral centre. The patients were 10-19.9 years old, and were categorised according to whether they had normal results (27 patients) or glucose intolerance (12 patients) during the oral glucose tolerance test. RESULTS: The maximum interstitial glucose concentration among individuals with normal oral glucose tolerance test results was 174.9±65.1 mg/dL (9.7-3.61 mmol/L), compared with 170.4±40.9 mg/dL (9.46-2.27 mmol/L) among individuals with glucose intolerance. The CGMS revealed that 18 of the 27 patients with normal oral glucose tolerance test results had peak interstitial glucose concentrations of >140 mg/dL (7.8 mmol/L), and that 4 of these individuals had peak levels of >200 mg/dL (11.1 mmol/L). None of the analysed clinical or laboratory characteristics predicted the occurrence of hyperglycaemic peaks on CGMS. CONCLUSIONS: The present study revealed that CGMS could detect hyperglycaemia among patients with cystic fibrosis and 'normal' oral glucose tolerance test results, and that their clinical and laboratory characteristics were not useful in discerning between patients who did and did not exhibit these excursions.

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included. Molecular analysis of the AR and SRD5A2 genes were performed in all patients and the NR5A1 gene analysis in the idiopathic group. Measurements of inhibin B were performed by two second-generation ELISA assays (Beckman-Coulter and AnshLabs). Assays were compared using the interclass correlation coefficient (ICC) and the Bland-Altman method. RESULTS: ICC was 0.915 [95% confidence interval (CI): 0.828-0.959], however, a discrepancy was observed between trials, which is more evident among higher values when analyzed by the Bland-Altman method. CONCLUSIONS: It is recommended to perform the inhibin B measurement always using the same ELISA kit when several evaluations are required for a specific patient.