A computer-controlled color vision test for children based on the Cambridge Colour Test

The present study aimed at providing conditions for the assessment of color discrimination in children using a modified version of the Cambridge Colour Test (CCT, Cambridge Research Systems Ltd., Rochester, UK). Since the task of indicating the gap of the Landolt C used in that test proved counterintuitive and/or difficult for young children to understand, we changed the target Stimulus to a patch of color approximately the size of the Landolt C gap (about 7 degrees Of Visual angle at 50 cm from the monitor). The modifications were performed for the CCT Trivector test which measures color discrimination for the protan, deutan and tritan confusion lines. Experiment I Sought to evaluate the correspondence between the CCT and the child-friendly adaptation with adult subjects (n = 29) with normal color vision. Results showed good agreement between the two test versions. Experiment 2 tested the child-friendly software with children 2 to 7 years old (n = 25) using operant training techniques for establishing and maintaining the subjects` performance. Color discrimination thresholds were progressively lower as age increased within the age range tested (2 to 30 years old), and the data-including those obtained for children-fell within the range of thresholds previously obtained for adults with the CCT. The protan and deutan thresholds were consistently lower than tritan thresholds, a pattern repeatedly observed in adults tested with the CCT. The results demonstrate that the test is fit for assessment of color discrimination in young children and may be a useful tool for the establishment of color vision thresholds during development.

Allelic variations in the vitamin D receptor gene, insulin secretion and parents' heights are independently associated with height in obese children and adolescents

Polymorphisms in the VDR gene were reported to be associated with variations in intrauterine and postnatal growth and with adult height, but also with other traits that are strongly correlated such as the BMI, insulin sensitivity, insulin secretion and hyperglycemia. Here, we assessed the impact of VDR polymorphisms on body height and its interactions with obesity- and glucose tolerance-related traits in obese children and adolescents. We studied 173 prepubertal (Tanner's stage 1) and 146 pubertal (Tanner's stages 2-5) obese children who were referred for a weight-loss program. Three single nucleotide polymorphisms were genotyped: rs1544410 (BsmI), rs7975232 (ApaI) and rs731236 (TaqI). BsmI and TaqI genotypes were significantly associated with height in pubertal children, but the associations did not reach statistical significance in prepubertal children. In stepwise regression analyses, the lean body mass, insulin secretion, BsmI or TaqI genotypes and the father's and the mother's height were independently and positively associated with height in pubertal children. These covariables accounted for 46% of the trait variance. The height of homozygous carriers of the minor allele of BsmI was 0.65 z-scores (4 cm) higher than the height of homozygous carriers of the major allele (P=.0006). Haplotype analyses confirmed the associations of the minor alleles of BsmI and TaqI with increased height. In conclusion, VDR genotypes were significantly associated with height in pubertal obese children. The associations were independent from the effects of confounding traits, such as the body fat mass, insulin secretion, insulin sensitivity and glucose tolerance. (C) 2012 Elsevier Inc. All rights reserved.

QUANTIFICATION OF LEFT VENTRICULAR MYOCARDIAL COLLAGEN SYSTEM IN CHILDREN, YOUNG ADULTS, AND THE ELDERLY

Studies on the collagen system of the human myocardium are still limited compared to those on small laboratory animals. The aim of this work was to observe the collagen tissue of the myocardium of the human heart as a function of age. The types of collagen, as well as the density of collagen tissue and the diameter of collagen fibrils, were examined. Fragments of the left ventricular wall from 15 hearts, 5 from children, 5 from young adults, and 5 from elderly individuals, were analyzed by using the Picrosirius-polarization method and by transmission electron microscopy (TEM). The results showed the presence of collagen type III and collagen type I, both in the endomysium and perimysium of the 3 groups studied. Measurements of collagen content in myocardial tissue displayed that both endomysial and perimysial collagen increase in number and thickness in the adult and elderly. These histochemical results coincided with the observations obtained with the electron microscope in showing an increase in the number of collagen fibrils with a large diameter in the adult and elderly hearts. The present results on cardiac collagen may be important for assessing the pathogenesis of several cardiopathies in the hearts of children, young adults, and the elderly.

Predicted preoperative maximal static respiratory pressures in adult cardiac surgeries: evaluation of two formulas

Objectives: Cardiac surgery (CC) determines systemic and pulmonary changes that require special care. What motivated several studies conducted in healthy subjects to assess muscle strength were the awareness of the importance of respiratory muscle dysfunction in the development of respiratory failure. These studies used maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) values. This study examined the concordance between the values predicted by the equations proposed by Black & Hyatt and Neder, and the measured values in cardiac surgery (CS) patients. Methods: Data were collected from preoperative evaluation forms. The Lin coefficient and Bland-Altman plots were used for statistical concordance analysis. The multiple linear regression and analysis of variance (ANOVA) were used to produce new formulas. Results: There were weak correlations of 0.22 and 0.19 in the MIP analysis and of 0.10 and 0.32 in the MEP analysis, for the formulas of Black & Hyatt and Neder, respectively. The ANOVA for both MIP and MEP were significant (P <0.0001), and the following formulas were developed: MIP = 88.82 - (0.51 x age) + (19.86 x gender), and MEP = 91.36 -(030 x age) + (29.92 x gender). Conclusions: The Black and Hyatt and Neder formulas predict highly discrepant values of MIP and MEP and should not be used to identify muscle weakness in CS patients.

Cochlear implant in postlingual children: functional results 10 years after the surgery

The benefits of cochlear implants (CI) for communication skills are obtained over the years. There are but a few studies regarding the long-term outcomes in postlingual deaf children who grew up using the electronic device. Aim: To assess the functional results in a group of postlingual children, 10 years after using a CI. Methods: Ten postlingual deaf children, implanted before 18 years of age, participated in this study. We assessed: sentence recognition and speech intelligibility. We documented: device use and function and the patient's academic/occupational status. Study design: series. Results: The mean scores were 73% for sentence recognition in silence and 40% in noise. The average write-down intelligibility score was 92% and the average rating-scale intelligibility score was 4.15. There were no cases of device failure. Regarding educational/vocational status, three subjects graduated from the University. Five quit education after completing high school. Eight subjects had a professional activity. Conclusion: This study showed that cochlear implantation is a safe and reliable procedure. The postlingual profoundly hearing-impaired children after 10 years of CI use developed satisfactory levels regarding speech perception and intelligibility, and completed at least high school and were inserted in the labor market. Clinical Trials Registry: NCT01400178.

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and-202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

Insulin-like growth factor type 1 (IGF1) is a mediator of growth hormone (GH) action, and therefore, IGF1 is a candidate gene for recombinant human GH (rhGH) pharmacogenetics. Lower serum IGF1 levels were found in adults homozygous for 19 cytosine-adenosine (CA) repeats in the IGF1 promoter. The aim of this study was to evaluate the influence of (CA)n IGF1 polymorphism, alone or in combination with GH receptor (GHR)-exon 3 and -202 A/C insulin-like growth factor binding protein-3 (IGFBP3) polymorphisms, on the growth response to rhGH therapy in GH-deficient (GHD) patients. Eighty-four severe GHD patients were genotyped for (CA) n IGF1, -202 A/C IGFBP3 and GHR-exon 3 polymorphisms. Multiple linear regressions were performed to estimate the effect of each genotype, after adjustment for other influential factors. We assessed the influence of genotypes on the first year growth velocity (1st y GV) (n = 84) and adult height standard deviation score (SDS) adjusted for target-height SDS (AH-TH SDS) after rhGH therapy (n = 37). Homozygosity for the IGF1 19CA repeat allele was negatively correlated with 1st y GV (P = 0.03) and AH-TH SDS (P = 0.002) in multiple linear regression analysis. In conjunction with clinical factors, IGF1 and IGFBP3 genotypes explain 29% of the 1st y GV variability, whereas IGF1 and GHR polymorphisms explain 59% of final height-target-height SDS variability. We conclude that homozygosity for IGF1 (CA) 19 allele is associated with less favorable short-and long-term growth outcomes after rhGH treatment in patients with severe GHD. Furthermore, this polymorphism exhibits a non-additive interaction with -202 A/C IGFBP3 genotype on the 1st y GV and with GHR-exon 3 genotype on adult height. The Pharmacogenomics Journal (2012) 12, 439-445; doi:10.1038/tpj.2011.13; published online 5 April 2011

Acoustic analyses of diadochokinesis in fluent and stuttering children

OBJECTIVES: The purpose of the study was to acoustically compare the performance of children who do and do not stutter on diadochokinesis tasks in terms of syllable duration, syllable periods, and peak intensity. METHODS: In this case-control study, acoustical analyses were performed on 26 children who stutter and 20 aged-matched normally fluent children (both groups stratified into preschoolers and school-aged children) during a diadochokinesis task: the repetition of articulatory segments through a task testing the ability to alternate movements. Speech fluency was assessed using the Fluency Profile and the Stuttering Severity Instrument. RESULTS: The children who stutter and those who do not did not significantly differ in terms of the acoustic patterns they produced in the diadochokinesis tasks. Significant differences were demonstrated between age groups independent of speech fluency. Overall, the preschoolers performed poorer. These results indicate that the observed differences are related to speech-motor age development and not to stuttering itself. CONCLUSIONS: Acoustic studies demonstrate that speech segment durations are most variable, both within and between subjects, during childhood and then gradually decrease to adult levels by the age of eleven to thirteen years. One possible explanation for the results of the present study is that children who stutter presented higher coefficients of variation to exploit the motor equivalence to achieve accurate sound production (i.e., the absence of speech disruptions).

Auditory brainstem implant outcomes and MAP parameters: Report of experiences in adults and children

The auditory brainstem implant (ABI) was first developed to help neurofibromatosis type 2 patients. Recently, its use has been recently extended to adults with non-tumor etiologies and children with profound hearing loss who were not candidates for a cochlear implant (Cl). Although the results has been extensively reported, the stimulation parameters involved behind the outcomes have received less attention. Objective: The aim of this study is to describe the audiologic outcomes and the MAP parameters in ABI adults and children at our center. Methods: Retrospective chart review. Five adults and four children were implanted with the ABI24M from September 2005 to June 2009. In the adult patients, four had Neurofibromatosis type 2, and one had postmeningitic deafness with complete ossification of both cochleae. Three of the children had cochlear malformation or dysplasia, and one had complete ossified cochlea due to meningitis. Map parameters as well as the intraoperative electrical auditory brainstem responses were collected. Evaluation was performed with at least six months of device use and included free-field hearing thresholds, speech perception tests in the adult patients and for the children, the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and (ESP) were used to evaluate the development of auditory skills, besides the MUSS to evaluate. Results: The number of active electrodes that did not cause any non-auditory sensation varied from three to nineteen. All of them were programmed with SPEAK strategy, and the pulse widths varied from 100 to 300 mu s. Free-field thresholds with warble tones varied from very soft auditory sensation of 70 dBHL at 250 Hz to a pure tone average of 45 dBHL. Speech perception varied from none to 60% open-set recognition of sentences in silence in the adult population and from no auditory sensation at all to a slight improvement in the IT-MAIS/MAIS scores. Conclusion: We observed that ABI may be a good option for offering some hearing attention to both adults and children. In children, the results might not be enough to ensure oral language development. Programming the speech processor in children demands higher care to the audiologist. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

Double-chambered right ventricle in an adult patient diagnosed by transthoracic echocardiography

Abstract Background Double-chambered right ventricle is a rare congenital disease frequently misdiagnosed in the adult patient. An anomalous muscle band divides the right ventricle in two cavities causing variable degree of obstruction. Although echocardiography is considered a useful method for the diagnosis of this pathology in children, it has been recognized the transthoracic scanning limitation in adults. Case presentation A 29 year-old patient with double-chambered right ventricle presenting mild exercise intolerance referred for follow up of a known ventricular septal defect in whom a complete diagnosis was obtained based only on transthoracic two dimensional echocardiography without the needing of cardiac catheterization. Conclusion Based on non invasive echocardiographic diagnosis, patient was referred to surgical correction, which was completely successful.

Co-presentation of human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis and adult-onset infective dermatitis associated with HTLV-1 infection

Background  Human T-cell lymphotropic virus type 1 (HTLV-1) is the etiologic agent of adult T-cell leukemia/lymphoma (ATLL), HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), infective dermatitis associated with HTLV-1 (IDH), and various other clinical conditions. Several of these diseases can occur in association. Objective  Report an association of diseases related to HTLV-1 infection, occurring in an unusual age group. Methods  Dermatological and laboratory exams were consecutively performed in HTLV-1-infected individuals from January 2008 to July 2010 in the HTLV Outpatient Clinic at the Institute of Infectious Diseases “Emilio Ribas” in São Paulo, Brazil. Results  A total of 193 individuals (73 HAM/TSP and 120 asymptomatic carriers) were evaluated, three of which were associated with adult-onset IDH and HAM/TSP. In all three cases, the patients were affected by IDH after the development and progression of HAM/TSP-associated symptoms. Limitations  Small number of cases because of the rarity of these diseases. Conclusion  We draw attention to the possibility of co-presentation of adult-onset IDH in patients with a previous diagnosis of HAM/TSP, although IDH is a disease classically described in children. Thus, dermatologists should be aware of these diagnoses in areas endemic for HTLV-1 infection.

Adult Langerhans cell histiocytosis presenting as metachronous colonic polyps

Langerhans cell histiocytosis (LCH) is a rare disease characterized by proliferation of Langerhans-type cells that express CD1a, Langerin (CD207) and S100 protein. Birbeck granules are a hallmark by ultrastructural examination. LCH presents with a wide clinical spectrum, ranging from solitary lesions of a single site (usually bone or skin) to multiple or disseminated multisystemic lesions, which can lead to severe organ dysfunction. Most cases occur in children. Gastrointestinal tract involvement is rare and has been associated with systemic illness and poor prognosis especially in children under the age of 2 years. Adult gastrointestinal LCH is very rare. We report a case of a previously healthy, nonsmoking 48-year-old male who was referred for routine screening colonoscopy. Two sessile, smooth, firm and yellowish LCH polyps measuring 0.2 cm and 0.3 cm were detected in the sigmoid colon. Fifteen months later a second colonoscopy found two histologically confirmed hyperplastic polyps at the sigmoid colon. No other LCH lesions were seen. A third colonoscopy after 28 months of follow-up found a submucosal 0.5 cm infiltrated and ulcerated LCH polyp in the cecum, close to the ostium of the appendix. The patient had been asymptomatic for all this period. Imaging investigation for systemic or multiorgan disease did not find any sign of extracolonic involvement. On histology all lesions showed typical LCH features and immunohistochemical analysis showed strong and diffuse staining for CD1a and CD207. This case illustrates two distinct clinicopathologic features not previously reported in this particular clinical setting: metachronous colonic involvement and positivity for CD207.