Cohort Of Boys Research Articles

Coexistence of obesity and unhealthy cardiorespiratory fitness in a cohort of boys.

The aim of the present study was to examine: 1) the coexistence of excessive body weight and low cardiorespiratory fitness (CRF), at a level to be considered unhealthy, and 2) the stability (tracking) of this profile. 1754 European boys, aged 8- to 14-years old, were tested for CRF and based on international cut points were classified as having healthy (H) or unhealthy (UN) CRF. Based on BMI they were classified as having normal weight (N), or overweight or obesity (OO). Chi-square was performed with four groups (i.e. N/H, N/UN, OO/H and OO/UN) and the odds ratios were calculated (cross-sectional analysis). A sub-group of 353 boys were followed for an average of 3.79±0.83 years (range: 2.97-6.06; longitudinal analysis). The odds that a boy was with OO/UN profile compared to the normal body weight category ranged from 2.67 (13-years old) to 6.74 (9-years old). 56.6% of the participants remained in the same category, whereas 28.0% of them had ≥1 change in category to worst in the second assessment (Cohen Kappa= 0.557, p<0.001; substantial agreement). The odds ratios of having boys with unhealthy profile of combined excessive body weight and low CRF ranged from medium to large. The stability of unhealthy profile was substantial.

8610 The Role of Adenylyl Cyclase 2 Gene-Dosage Changes in Congenital Male Genitourinary Anomalies

Abstract Disclosure: D.J. Lamb: Advisory Board Member; Self; Ro Health, Inc. Stock Owner; Self; Fellow Health, Inc. M.A. O'Neill: None. Collectively, congenital genitourinary (GU) birth defects are the most common birth defects in males, yet relatively little is known about their cause. In part, this reflects the current clinical perspective that, because most of these birth defects can be surgically repaired, there is nothing to be gained by understanding the cause. Yet our studies show that seemingly simple birth defects like hypospadias or cryptorchidism, may be associated with other more significant underappreciated defects, such as those affecting the kidney, heart, eyes or behavior. We tested the hypothesis that chromosome microdeletions and microduplications (called copy number variations, CNVs) result in gene-dosage changes that are important regulators of GU development and when haploinsufficient or duplicated normal genitourinary development is impacted causing birth defects of the upper and/or lower genitourinary tract. We successfully used this strategy to identify 15 different previously unrecognized genes that when microduplicated or microdeleted result in conditions such as cryptorchidism, hypospadias, disorders of sexual differentiation (DSD) and other anomalies. Remarkably, gene-dosage changes affected major signaling pathways and post-translational modifications in novel, previously unrecognized ways. Herein, we focused on defining the role of a candidate gene commonly microdeleted or microduplicated in patients with cryptorchidism, hypospadias and/or micropenis. Locus mapping allowed identification of adenylate cyclase 2 (ADCY2) as a candidate gene at the 5p15.31 Cri-du-Chat region in patients with male genital tract anomalies. ADCY2 CNVs were more common in non-syndromic patients with micropenis, cryptorchidism, and/or hypospadias (1.6%) than the general population (0.07%; p&amp;lt; 0.001). Whole exome sequence studies revealed a range of phenotypic anomalies in patients with damaging and potentially damaging ADCY2 variants in addition to the male GU anomalies, including congenital anomalies of the kidney and urinary tract. It is our hypothesis that ADCY2 duplications result in a de-sensitization of the LH receptor diminishing testosterone biosynthesis in the testis, whereas deletions diminish LH receptor signaling. ADCY2 CNVs were assessed in 100 men with spermatogenic failure who were born with cryptorchidism. The ADCY2 CNV frequency was the same as in our cohort of boys with GU anomalies, but as adults they also have hypergonadotropic hypogonadism, which we predicted if ADCY2 over-expression was impacting adult Leydig cell steroidogenesis through partial desensitization of the LH receptor. These studies identified an unrecognized cause of GU anomalies. In the future, such knowledge may lead to improved diagnosis and therapeutic approaches to ameliorate these common birth defects. Presentation: 6/2/2024

Pubertal testicular volume references for ruler, orchidometer, and ultrasonography measurements based on a longitudinal follow-up.

Testicular volume is a marker of male pubertal development. Various clinical conditions and their treatments may influence testicular growth. To create ruler-based age-dependent pubertal testicular volume references that enable calculation of standard deviation (SD) scores. Study cohort comprised 65 boys who attended clinical examination twice a year from the age of 8.5 years until the attainment of final testicular size. Forty-nine (75.4%) boys completed the follow-up and 16 (24.6%) boys dropped out before the attainment of final post-pubertal testicular size. At each follow-up visit testicular size was measured with a ruler, orchidometer, and ultrasonography. LMS or LMSP method served as the technique for creating reference growth curves for testicular volumes. Using the novel references for ruler measurements, development of SD scores was assessed in a cohort of boys with unilateral cryptorchidism. Reference growth curves were constructed separately for ruler, orchidometer, and ultrasonography measurements. Median orchidometer volume of 4mL, marker of male pubertal onset, occurred at the age of 11.7 years, whereas +2SD curve surpassed 4mL at 10.2 years and -2SD curve at 13.7 years. Modeled ages at the attainment of 4mL testicular volume based on ruler measurements were 9.7 years for +2SD curve, 11.5 years for median curve, and 13.6 years for -2SD curve. Ultrasonography-based volume of 1.3mL corresponded with the median modeled orchidometer-based volume of 4mL. In boys with unilateral cryptorchidism, ruler-based SD scores decreased during puberty in undescended testes, but not in descended testes. The present study provides reference values for pubertal testicular volume measured with a ruler enabling an age-dependent assessment of testicular size. Comparison with measurements by an orchidometer and ultrasonography is also presented.

Comparison of Outcomes of the Open and Plastibell Methods in 600+ Boys Circumcised by a Single Surgeon-A Quasi-experimental Study from Pakistan (A Lower-middle Income Country)

Background: Circumcision is the most common elective surgical procedure amongst Muslims. The Plastibell method is gaining popularity as it is being considered safer with a lower complication rate. Objective: To compare the Open and Plastibell methods of circumcision in terms of procedural time, outcomes, and parental satisfaction in our cohort of boys up to 5 years of age. Methods: This quasi-experimental study of boys aged ≤5 years was conducted from July 2018 to October 2020 at THQ Ferozewala, Punjab. Boys meeting the inclusion criteria were circumcised, based on parental preference, by the Open method or the Plastibell technique after administering age-appropriate local or general anesthesia. Follow-up was conducted on the 5th, 10th, and 30th post-procedural days. Basic demographic data, procedural duration, and outcomes were documented. Results: Of 646 boys brought for circumcision, 608 met the inclusion criteria with equal participants in both groups. The median age in the Open and Plastibell groups was 3.0 (IQR=1.0-12.2) and 5.0 (IQR=2.0-9.0) months respectively. The Plastibell group had a significantly shorter median operating time compared to the Open method (4.2 min vs. 13 min; p-value: 0.008). Complications were recorded in 15% of children (n=91) and were more frequent but comparatively trivial in nature in the Plastibell group. Comparison of complications between the two methods revealed that the association of over-removal of skin was statistically significant (p-value: 0.007) with the Open method while under-removal of skin (p-value: 0.002) and post-operative phimosis (p-value: 0.037) were significantly associated with the Plastibell technique; the latter two complications being significantly associated with age of the boys in the ≥2 months to 1-year group. No serious adverse outcomes were reported for both groups. The open method was preferred by parents for cosmesis and Plastibell for ease of care. Follow-up contact was established with all families. Conclusion: Plastibell, compared to the Open method, is a quicker and safer method of circumcision for boys up to 5 years of age, under appropriate anesthesia. Follow-up ensures patient safety.

Establishing diagnoses in a cohort of boys from East London with 46XY DSD and severe hypospadias

Establishing diagnoses in a cohort of boys from East London with 46XY DSD and severe hypospadias

ВЛИЯНИЕ ВОЗРАСТА И ПОЛА НА СПИРОМЕТРИЧЕСКИЕ ПАРАМЕТРЫ У ПОДРОСТКОВ С БРОНХИАЛЬНОЙ АСТМОЙ

Peculiarities of the course of bronchial asthma (BA) in adolescents from the standpoint of the influence of age and gender on it cannot be considered fully studied as yet. Materials and methods used: the data were obtained from 367 patients’ records of atopic BA aged 10 to 17 years old (73,6% boys) who were treated for atopic BA at the Nizhny Novgorod City Children’s Clinical Hospital No. 1 (Nizhny Novgorod, Russia). The patients were divided into two age groups: early adolescence (EA, 10 to 14 y/o, 239 patients) and middle adolescence (MA, 15 to 17 y/o, 128). All patients underwent spirometric studies with an assessment of the forced vital capacity of the lungs (FVC), the ratio of forced expiratory volume in one second (FEV1) to FVC (FEV1/FVC), the average volume velocity of forced exhalation, averaged in the exhalation interval from 25 to 75% FVC (FEF25-75). Spirometric parameters were evaluated using the z-criteria of the Global Lung Initiative. Results: in the general group of patients, the zFVC index was statistically significantly lower in MA compared to EA (p=0,001), and the indicators of zFEV1/FVC and zFEF25-75 were statistically significantly higher in MA (p=0,020, p=0,022 respectively). In the cohort of boys, there were similar differences in spirometric parameters in EA and MA (p=0,009, p=0,002, p=0,002, respectively). In girls, the values of FVC in MA were statistically significantly lower than in EA (p=0,0310, as in the general cohort and the cohort of boys). At the same time, in girls, the indicators of zFEV1/FVC and zFEF25-75, reflecting bronchial permeability, were slightly lower in MA than in EA, but the differences were not statistically significant. Conclusion: in boys, but not in girls, the spirometric parameters reflecting bronchial patency in MA were statistically significantly higher than in EA. At the same time, in both boys and girls, the indicators of FVC decrease in MA compared to EA, remaining above the population median values of indicators.

Longitudinal association of prepubertal urinary phthalate metabolite concentrations with pubertal progression among a cohort of boys

BackgroundEpidemiological studies have reported associations of anti-androgenic phthalate metabolite concentrations with later onset of male puberty, but few have assessed associations with progression. ObjectivesWe examined the association of prepubertal urinary phthalate metabolite concentrations with trajectories of pubertal progression among Russian boys. MethodsAt enrollment (ages 8–9 years), medical history, dietary, and demographic information were collected. At entry and annually to age 19 years, physical examinations including testicular volume (TV) were performed and spot urines collected. Each boy's prepubertal urine samples were pooled, and 15 phthalate metabolites were quantified by isotope dilution LC-MS/MS at Moscow State University. Metabolites of anti-androgenic parent phthalates were included: butylbenzyl (BBzP), di-n-butyl (DnBP), diisobutyl (DiBP), di(2-ethylhexyl) (DEHP) and diisononyl (DiNP) phthalates. We calculated the molar sums of DEHP, DiNP, and all AAP metabolites. We used group-based trajectory models (GBTMs) to identify subgroups of boys who followed similar pubertal trajectories from ages 8–19 years based on annual TV. We used multinomial and ordinal regression models to evaluate whether prepubertal log-transformed phthalate metabolite concentrations were associated with slower or faster pubertal progression trajectories, adjusting for covariates. Results304 boys contributed a total of 752 prepubertal urine samples (median 2, range: 1–6) for creation of individual pools. The median length of follow-up was 10.0 years; 79% of boys were followed beyond age 15. We identified three pubertal progression groups: slower (34%), moderate (43%), and faster (23%) progression. A standard deviation increase in urinary log-monobenzyl phthalate (MBzP) concentrations was associated with higher adjusted odds of being in the slow versus faster pubertal progression trajectory (aOR 1.47, 95% CI 1.06–2.04). None of the other phthalate metabolites were associated with pubertal progression. ConclusionsOn average, boys with higher concentrations of prepubertal urinary MBzP had a slower tempo of pubertal progression, perhaps attributable to the disruption of androgen-dependent biological pathways.

Psychosocial Intervention for Youth With High Externalizing Behaviors and Aggression Is Associated With Improvement in Impulsivity and Brain Gray Matter Volume Changes.

Background: Stop, Now And Plan (SNAP) is a cognitive behavioral-based psychosocial intervention that has a strong evidence base for treating youth with high aggression and externalizing behaviors, many of whom have disruptive behavior disorders. In a pre-post design, we tested whether SNAP could improve externalizing behaviors, assessed by the parent-rated Child Behavior Checklist (CBCL) and also improve behavioral measures of impulsivity in children with high aggression and impulsivity. We then investigated whether any improvement in externalizing behavior or impulsivity was associated with gray matter volume (GMV) changes assessed using structural magnetic resonance imaging (sMRI). We also recruited typically developing youth who were assessed twice without undergoing the SNAP intervention.Methods: Ten children who were participating in SNAP treatment completed the entire study protocol. CBCL measures, behavioral measures of impulsivity, and sMRI scanning was conducted pre-SNAP and then 13 weeks later post-SNAP. Twelve healthy controls also completed the study; they were rated on the CBCL, performed the same behavioral measure of impulsivity, and underwent sMRI twice, separated by 13 weeks. They did not receive the SNAP intervention.Result: At baseline, SNAP participants had higher CBCL scores and performed worse on the impulsivity task compared with the healthy controls. At the second visit, SNAP participants still had higher scores on the CBCL compared with normally-developing controls, but their performance on the impulsivity task had improved to the point where their results were indistinguishable from the healthy controls. Structural magnetic resonance imaging in the SNAP participants further revealed that improvements in impulsivity were associated with GMV changes in the frontotemporal region.Conclusion: These results suggest that SNAP led to improvement in behavioral measures of impulsivity in a cohort of boys with high externalizing behavior. Improvement in impulsivity was also associated with increased GMV changes. The mechanism behind these brain changes is unknown but could relate to cognitive behavioral therapy and contingency management interventions, important components of SNAP, that target frontotemporal brain regions. Clinically, this study offers new evidence for the potential targeting of brain regions by non-invasive modalities, such as repetitive transcranial magnetic stimulation, to improve externalizing behavior and impulsivity.

ВЗАИМОСВЯЗЬ ИНДЕКСА МАССЫ ТЕЛА, ОТНОСИТЕЛЬНОГО ИНДЕКСА МАССЫ ТЕЛА И ПОКАЗАТЕЛЕЙ БРОНХИАЛЬНОЙ ПРОХОДИМОСТИ У ДЕТЕЙ С БРОНХИАЛЬНОЙ АСТМОЙ

Objective of the study: to study the relationship between nutritional status parameters and spirometric parameters reflecting bronchial patency in children with bronchial asthma (BA). Materials and methods of research: a retrospective non-randomized single-center comparative study of 417 children, 297 boys (71,2%) and 120 girls (28,8%), age 10,5 [10,2; 10,9] years with atopic BA. All children underwent spirometry and anthropometry. Results: an increase in body weight from underweight to obesity was accompanied by a decrease in the FEV1/FVC ratio from 80,4 [48,8; 97,9]% to 73,7 [47,4; 88,1]%, p=0,003, MEF 25% (% pred) from 70,9 [19,4; 171,5]% to 55,1 [20,2; 110,0]%, p=0,003 and FEF 25–75 (% pred) from 79,2 [28,6; 173,6]% to 65,9 [24,8; 103,5]%, p=0,02; at the same time, there is an increase in FVC% pred from 104,88±17,26 to 112,13±16,22%, р=0,01, which may be associated with the phenomenon of dysanapsis. The body mass index (BMI) and relative BMI values negatively correlate with the FEV1/FVC index (r=–0,20 and r=–0,19, respectively, p=0,0001). Similar data for the general cohort was collected in the cohort of boys. Conclusion: indicators of nutritional status, as well as spirometric indicators, can be important components of an objective assessment of the condition of children with asthma for individual effective therapy of the disease.

Prenatal exposure to DDT and cardiometabolic events among boys from Mexico

BACKGROUND AND AIM: The role of { in utero } exposure to the pesticide DDT and its main breakdown product DDE, on the development of chronic disorders is not well established. Although experimental evidence suggests that DDT exposure result in adverse outcomes, such as cardiometabolic diseases, data from human studies remain inconclusive. We evaluated the association between prenatal exposure to DDT and cardiometabolic alterations in a cohort of boys from a highly exposed area of Mexico. METHODS: We followed 253 boys from birth to ~13.5 years of age; DDT and DDE was determined in maternal serum samples drawn at delivery (2002-2003). The outcomes of interest were central obesity, elevated blood pressure (BP), and high percentage of glycated hemoglobin (HbA1c: ≥6.5%); all outcomes were measured at the last follow-up visit (2015-2017). The association between the exposures and outcomes was assessed individually with logistic regression models adjusted for maternal age at delivery, education, residence, parity, and smoking. RESULTS:Overall, 19% of the boys had central obesity, 22% high BP and 26% high HbA1c. Compared to boys least exposed to DDE (≤3.00μg/g lipids), those with the highest exposure (9.00 μg/g) had slightly higher odds of having central obesity (OR=1.20; 95%CI: 0.48, 3.00); no association with high HbA1c (OR=1.05; 95%CI: 0.45, 2.45) emerged. Compared to boys least exposed to DDT (≤0.25μg/g), those with the highest exposure (≥2.00μg/g) had slightly higher odds of having central obesity (OR=1.16; 95%CI: 0.39, 3.38) and high HbA1c (OR=1.31; 95%CI: 0.48, 3.59). High blood pressure was unrelated to DDE (OR=0.85; 95%CI: 0.34, 2.10) and DDT (OR=1.04; 95%CI: 0.34, 3.14). CONCLUSIONS:Our data suggests that DDE might increase their risk of developing central obesity and DDT might impair glucose metabolism of teenage boys whom experienced high levels of exposure prenatally. Nonetheless, our data do not support an association between DDT exposure and high blood pressure. KEYWORDS: Chemical exposures, children's environmental health, male, pesticides.

‘They make time for you’: upwardly mobile working-class boys and understanding the dimensions of nurturing and supportive student–teacher relationships

ABSTRACT Improving the academic and social outcomes of boys – specifically boys from low-SES backgrounds – remains of international importance. With this in mind, research continues to document the ways in which relational learning is integral for the well-being of students, specifically those students in disadvantaged school contexts. This paper focuses on relational learning as an important resource that marginalised young men draw upon, informing their future orientation towards higher education beyond their compulsory schooling. Within studies of men and masculinities, the affective turn has recently played a significant role in how we understand men as relational. Focusing upon a cohort of boys from some of the poorest urban regions in Australia, the paper addresses how their affective relationships with teachers contribute not only to their conception of themselves as learners but also their general well-being, confidence and aspirations. Through highlighting two trends in the data – Teacher as Persistent Nurturer and Teacher as Supporter – the research presented extends two lines of inquiry. First, understanding student–teacher relationships in disadvantaged educational contexts and, second, the importance of positive student–teacher relationships for working-class boys who have historically disengaged from their education.

Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies – a study from a single neuromuscular centre

Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies – a study from a single neuromuscular centre

Decline of physical activity in early adolescence: A 3-year cohort study.

This study analyses the changes of moderate-to-vigorous physical activity (MVPA) in a cohort of boys and girls aged 11 (n = 50) and 14 (n = 50). Physical activity was assessed with Bodymedia SenseWear Pro Armband monitor for 6 days in October 2013 and October 2016, considering 90% of daily wear time (21h and 40min). The initial sample (n = 160) included the children who wore the monitors at age 11 but the final analyzed sample included only those children from the initial sample (n = 50), whose data fulfilled the inclusion criteria at age 11 and 14. Physical fitness and somatic characteristics of the final sample (n = 50) were compared to a representative sample of Slovenian schoolchildren at ages 11 (n = 385) and 14 (n = 236) to detect possible bias. Changes in MVPA were controlled for maturity using the timing of adolescent growth spurt as its indicator. The average MVPA decreased more than one quarter (34.96 min) from age 11 to age 14. Children were significantly more active at age 11 than at age 14 (p < 0.01, d = 0.39). The timing of puberty onset in girls was significantly earlier (12.01 ± 1.0 years) (p < 0.01) than in boys (13.2 ± 0.75 years) (p < 0.01, d = 1.35). There was a significant gender difference in moderate-to vigorous physical activity at age 14 (p < 0.05, η2 = 0.12) and between moderate-to vigorous physical activity at age 11 and 14 (η2 = 0.11). After controlling for the timing of adolescent growth spurt the girls at age 11 showed significantly higher level of physical activity than at age 14 (p < 0.01, η2 = 0.17). Early adolescence is crucial for the development of physical activity behaviours, which is especially pronounced in girls. The significant decline of MVPA between ages 11 and 14 in Slovenia are likely influenced by environmental changes since the timing of adolescent growth spurt did not prove as a factor underlying the decline of MVPA.

Hemophilia prophylaxis adherence and bleeding using a tailored, frequency‐escalated approach: The Canadian Hemophilia Primary Prophylaxis Study

BackgroundStandard of care for persons with severe hemophilia A includes regular replacement of factor VIII (FVIII). Prophylaxis regimens using standard half‐life (SHL) FVIII concentrates, while effective, are costly and require frequent intravenous infusions. AimThis study evaluated the adherence of 56 boys with severe hemophilia A to tailored, frequency‐escalated prophylaxis with an SHL recombinant FVIII concentrate. MethodsWe reviewed the factor infusion and bleeding logs of study subjects. Adherence to the prescribed regimen was calculated on a weekly basis, and bleeding rates were determined from self/proxy‐reported bleeding logs. The primary outcome was adherence to the prescribed prophylaxis regimen. ResultsThe median (range of values [ROV]) weekly adherence to prophylaxis was 85.7% (37.4%‐99.8%). The median (ROV) adherent weeks on steps 1 (weekly), 2 (twice weekly), and 3 (alternate‐day) were 92.9% (50%‐100%), 80.3 (32%‐96%), and 72.6% (14%‐98%); relative to step 1, subjects were less likely to be adherent on steps 2 and 3 (P < 0.00). On step 1, our cohort had higher adherence than previously reported rates. The median (ROV) adherence to the breakthrough bleeding protocol was 47.1% (0%‐100%). At any given time, bleeding risk was reduced by 15% for each 10% increase in adherence during the preceding 12 weeks (hazard ratio, 0.85; 95% confidence interval, 0.81‐0.90). ConclusionThis cohort had high rates of adherence to the prescribed prophylaxis regimen. Initiating prophylaxis with once‐weekly infusions facilitated adherence to the prophylaxis regimen in this cohort of boys with severe hemophilia A started on primary prophylaxis at a very young age.

"I Don't Want to Spend My Life under a Toilet Seat"

Working with a cohort of boys aged 14–18 and classed as not in employment, education, or training (NEET) at the Young Men’s Christian Association (YMCA) in the UK city of Brighton and Hove, this article follows their progress as they engage with instructors and other pupils at the YMCA, using qualitative modes of inquiry to explore their reactions, feelings, and attitudes. As I demonstrate, their aspirations and sense of emergent manhood is often predicated on new relationships generated in the YMCA spaces rooted in a culture of caring and responsible masculinity founded on implicit Christian values. Through interviews with young men and the people around them, I probe some of the tensions in this process, showing how persistent attachments to places and spaces beyond the YMCA can create feelings of ambivalence and, in some cases, a sense of alienation and marginality even as they begin to feel that they belong.

The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.

To present an updated appraisal of hematopoietic stem cell transplant (HSCT) and gene therapy for X-linked adrenoleukodystrophy (ALD) in the setting of a novel, presymptomatic approach to disease. Outcomes in HSCT for ALD have been optimized over time due to early patient detection, improved myeloablative conditioning regimens, and adjunctive treatment for patients with advanced cerebral disease. Gene therapy has arrested disease progression in a cohort of boys with childhood cerebral ALD. New therapeutic strategies have provided the clinical basis for the implementation of Newborn Screening (NBS). With the help of advocacy groups, NBS has been implemented, allowing for MRI screening for the onset of cerebral ALD from birth. Gene therapy and optimized hematopoietic stem cell transplant for childhood CALD have changed the natural history of this previously devastating neurological disease.

Electrocardiographic Trends in Boys with Duchenne Muscular Dystrophy

Purpose Little is known about sudden cardiac death risk and arrhythmias in boys with Duchenne muscular dystrophy(DMD). The goal of the study is to describe ECG findings and arrhythmia burden in a multi-center contemporary cohort of boys with DMD. Methods We conducted a longitudinal retrospective study of 436 boys with DMD followed at 17 centers across the US and Canada from 2005 to 2015. Results A total of 1227 ECGs and 222 holter monitor studies were reviewed during the study period. Median of 2 ECGs were obtained per patient (IQR 1-4). ECG analysis demonstrated sinus rhythm (SR) in 82.2%, sinus tachycardia (ST) in 14.8%, and sinus bradycardia in 3%. Median heart rate was 94 bpm (IQR of 84-104). Hypertrophy was noted in 30.7% of ECGs in form of right ventricular hypertrophy (40.8%), left ventricular hypertrophy (33.3%), and biventricular hypertrophy (25.8%). Ectopy (isolated premature atrial contractions or isolated premature ventricular contractions) was noted in 1.1% of ECGs. Of the holters performed - 146 boys (65.8%) had one, 53 boys (23.8%) had two, and 23 boys (10.4%) had three. Median age at first baseline holter was 14 years (IQR 11-17). Underlying rhythm was SR in most (116, 79.4%) followed by ST (20, 13.7%). Ectopy occurred in 5 boys - 4 had supraventricular tachycardia (SVT) and 1 had ventricular tachycardia (VT). For second holter, median age of boys was 18 years (IQR 15.5-19). Underlying rhythm was SR in 48 (91%) and VT in 5 (9%). Atrial ectopy occurred in 4 boys. For third holter, median age was 18 years (IQR 14.5-19). Underlying rhythm was SR in 21 (91%), ST in 1 (4.3%), and atrial fibrillation in 1 (4.3%). Ectopy occurred in 8 boys - SVT in 3 and VT in 5. Using regression analysis, incidence of significant SVT or VT increases with age (p Conclusion Data suggests that ECG & rhythm abnormalities are common in boys with DMD. Holter monitoring is not used frequently; however, screening for arrhythmias is warranted especially as boys age.

The Relationship Between Bone Mineral Density and Cardiovascular Function in Duchenne Muscular Dystrophy: A Retrospective Cohort Study

INTRODUCTION:Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive skeletal and cardiac muscle weakness in boys. Cardiac dysfunction is a frequent cause of death in DMD. Glucocorticoids are the standard of care in DMD. The long-term use of oral glucocorticoids in DMD is complicated by poor bone health. Epidemiological studies suggest a biological link between the loss of bone mineral density (BMD) and cardiovascular disease, including coronary artery and cerebrovascular diseases. Whether an association between low BMD and cardiac dysfunction occurs in DMD boys has not yet been studied. The objective of this retrospective cohort study was to examine the relationship between BMD and cardiovascular health in DMD.METHODS:Retrospective data analyses was performed from de-identified medical records from a tertiary academic medical center. Whole body BMD was measured using dual-energy xray absorptiometry (DEXA) scan and left ventricular ejection fraction (LVEF) was measured using echocardiogram. Linear regression was used to evaluate the relationship between BMD and LVEF.RESULTS:Data was analyzed from a total of 32 boys with DMD. The mean age at which baseline BMD measurements was obtained of 11±3 (SD) years. The worst LVEF was measured at a mean of 23.7±21.8 (SD) months after the baseline BMD measurement. The final adjusted linear regression of the relationship between baseline BMD z-score and worst LVEF was not statistically significant (ß=0.41, p‑value=0.6455).DISCUSSION:In this cohort of boys with DMD, BMD was not associated with LVEF dysfunction up to 79 months later. Future research with a longer longitudinal follow-up period is warranted to evaluate the relationship between BMD and cardiovascular disease in DMD.

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions

The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duchenne boys (range of age: 6 years to 11 years and 6 months) were assessed by Wechsler Intelligence scale and battery of tests including tasks assessing working memory and executive functions (inhibition and switching, problem solving and planning). In our cohort some aspects of cognitive function were often impaired. These included multitasking, problem solving, inhibition and working memory necessary to plan and direct goal oriented behavior. Our results support the suggestion that aspects of cognitive function could be impaired even in boys without intellectual disability and support the hypothesis that executive functions may play an important role in specific aspects of cognitive impairment in Duchenne muscular dystrophy.

Fracture incident rate and growth in a nationwide cohort of boys with Duchenne Muscular Dystrophy

Fracture incident rate and growth in a nationwide cohort of boys with Duchenne Muscular Dystrophy