Assessing osteoporosis in the young adult

Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral density to one that includes bone quality. This may be particularly important in the young adult, where the aetiological cause of osteoporosis may be a primary genetic condition or secondary to another chronic condition

Assessing osteoporosis in the young adult

Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral density to one that includes bone quality. This may be particularly important in the young adult, where the aetiological cause of osteoporosis may be a primary genetic condition or secondary to another chronic condition

The prevalence of hypertension in paediatric Turner syndrome: a systematic review and meta-analysis

Cardiovascular related deaths account for over 40% of the excess mortality in Turner syndrome (TS). Hypertension, a modifiable risk factor for both aortic dilatation and dissection, is more commonly encountered in TS during childhood and adolescence. Treatment of hypertension is currently recommended beyond the age of 16 years in TS to help reduce the risk of aortic dissection. This study aims to determine the prevalence of hypertension in paediatric patients with TS and explore the associated methodologies of blood pressure evaluation reported in these studies. Three online databases were searched (Medline, Embase and Web of Science) for literature which reported a prevalence, or allowed calculation of prevalence, of hypertension in patients with TS who were 18 years of age or younger. Seventeen studies which met the primary eligibility criteria, with a total of 1948 patients, were included. The estimated pooled prevalence of hypertension in children and adolescents with TS was 16% (95% CI: 8.9–24.6%). There was significant heterogeneity detected between the studies. The prevalence of hypertension in those studies which assessed 24-h Ambulatory Blood Pressure Monitoring (ABPM) was 21.1% (95% CI: 15.2–27.6%) compared those which used another method of blood pressure measurement which was 13.5% (95% CI: 5.2–24.4%). Given the impact of hypertension with long-term health outcomes and the reversibility of these same outcomes by addressing abnormal blood pressure, prompt and early diagnosis of hypertension in young girls with TS should be prioritised. We recommend the use of 24-h ABPM in screening for hypertension in the paediatric TS population

Skeletal disproportion in girls with Turner syndrome and longitudinal change with growth promoting therapy

Objective: Short stature in Turner Syndrome (TS) may be accompanied by skeletal disproportion. This retrospective study investigates growth and disproportion from early childhood to adult height. Study design: Data were collected from 59 girls prior to growth hormone (rhGH) treatment and in 30 girls followed‐up longitudinally. Standard deviation scores (SDS) for height (Ht), sitting height (SH) and sub‐ischial leg length (LL) were compared and a disproportion score (SH SDS – LL SDS) calculated. Results: In 59 girls, mean (SD) age 6.6 (2.1) years prior to rhGH treatment, LL SDS of ‐3.4 (1.1) was significantly lower than SH SDS of ‐1.2 (0.8) [p<0.001]. In girls with Ht SDS < ‐2.0, disproportion score was > +2.0 in 27 (63%), cf eight (50%) with Ht SDS ≥ ‐2.0. For the longitudinal analysis, skeletal disproportion prior to rhGH was +2.4 (1.1) and +1.7 (1.0) on rhGH but prior to introduction of oestrogen [p<0.001]. Disproportion at adult height was +1.1 (0.8), less marked than at the earlier time points [p<0.001 for both comparisons]. Change in disproportion SDS over the first two years of rhGH predicted overall change in disproportion from baseline to adult height [R2 51.7%, p<0.001]. Conclusion: TS is associated with skeletal disproportion, which is more severe in the shortest girls and present in only half of those with milder degrees of short stature. Growth promoting therapy may improve disproportion during both the childhood and pubertal phases of growth. Change in disproportion status two years after starting rhGH helps predict disproportion at adult height

Objective and subjective measures of sleep in men with Muscular Dystrophy

Purpose Despite poor sleep quality being recognised in Duchenne Muscular Dystrophy, reports from milder forms of Muscular Dystrophy (MD), and accompanied associations with quality of life (QoL), pain and fatigue, remain limited however. Methods Adult males (n = 15 Beckers MD (BMD), n = 12 Limb-Girdle MD (LGMD), n = 12 Fascioscapulohumeral (FSHD), n = 14 non-MD (CTRL)) completed assessments of body composition (Bio-electrical impedance), sleep (7-day 24-hour tri-axial accelerometer, Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index, QoL (SF36-v2), pain (Visual analogue scale), fatigue (Modified Fatigue Index Scale) and functional assessments (Brookes and Vignos). Results FSHD and BMD reported worse sleep than CTRL on the PSQI. FSHD scored worse than CTRL on the Insomnia Severity Index (P<0.05). 25–63% and 50–81% of adults with MD reported poor sleep quality using the Insomnia Severity Index and PSQI, respectively. Accelerometery identified no difference in sleep quality between groups. Associations were identified between sleep measures (PSQI global and insomnia severity) with mental or physical QoL in LGMD, BMD and FSHD. Multiple regression identified associations between sleep impairment and fatigue severity (all MDs), body composition (BMD & LGMD), upper and lower limb function (LGMD, FSHD) and age (FSHD). Conclusions 25–81% of men with MD, depending on classification, experience sleep impairment, using self-report sleep measures. Whilst BMD and FSHD showed worse sleep outcomes than CTRL, no group difference was observed between LGMD and CTRL, however all groups showed associations with sleep impairment and higher levels of fatigue. These findings, and associations with measures of health and wellbeing, highlight an area for further research which could impact QoL in adults with MD

Skeletal disproportion in glucocorticoid-treated boys with Duchenne muscular dystrophy

We aimed to compare body segment and bone lengths in glucocorticoid-treated boys with Duchenne muscular dystrophy (DMD) with healthy controls using dual-energy absorptiometry (DXA) images. Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia) in boys with DMD and age-matched control boys were measured using DXA. Thirty boys with DMD (median age 10.0 years (6.1, 16.8)) were compared with 30 controls. SH in DMD was 3.3 cm lower (95% CI − 6.1, − 0.66; p = 0.016). LL in DMD was 7.3 cm lower (95% CI − 11.2, − 3.4; p &lt; 0.0001). SH:LL of boys with DMD was higher by 0.08 (95% CI 0.04, 0.12; p &lt; 0.0001). Femur length in DMD was 2.4 cm lower (95% CI − 4.6, − 0.12; p = 0.04), whereas tibial length in DMD was 4.8 cm lower (95% CI − 6.7, − 2.9; p &lt; 0.0001). SH:LL was not associated with duration of glucocorticoid use (SH:LL β = 0.003, 95% CI − 0.01 to 0.002, p = 0.72). Conclusion: Glucocorticoid-treated boys with DMD exhibit skeletal disproportion with relatively shorter leg length and more marked reduction of distal long bones. As glucocorticoid excess is not associated with such disproportion, our findings raise the possibility of an intrinsic disorder of growth in DMD

The effect of COVID-19 on the presentation of thyroid disease in children

Introduction: Although studies suggest a potential link between COVID-19 and thyroid dysfunction in adults, there are insufficient data to confirm that association in children, and whether there is any effect on presentation to healthcare services. Aims: To identify whether presentations of thyroid dysfunction in children to a tertiary paediatric hospital changed as a result of the COVID-19 pandemic. Methods: A retrospective case note review was conducted of all children with abnormal thyroid function tests between 1st January 2016 and 31st December 2021 at a tertiary paediatric endocrine centre in the United Kingdom. Results: Overall, 244 children whose first presentation was within the timeframe of interest were included in this study, with a median age (range) of 11.5 (6.1, 16.8) years. Of these, 43 (18%) were hyperthyroid and 201 (82%) were hypothyroid. The greatest number of thyroid presentations occurred in 2021 (n=60, 25% of total over time period) and the fewest in 2020 (n=10, 4% of total over time period). Prior to this, the median (range) number of presentations per year was 34 (28, 39). There were no statistically significant differences in biochemistry, antibody status or other clinical characteristics between those who presented with hyperthyroidism prior to the pandemic or after. In those with hypothyroidism, baseline biochemistry was similar between the 2 groups, but the presence of other autoimmune conditions was greater pre-pandemic (17.2% vs 15.0%, p=0.03). In addition, patients were more likely to have transient thyroid dysfunction, which did not require treatment post-pandemic (70.0% vs 49.6%, p=0.0086). Conclusions: Although overall rates of presentation with thyroid dysfunction have not altered since the first wave of the COVID-19 pandemic, presentations with transient thyroid dysfunction, not requiring ongoing treatment have increased. Further research regarding the relationship between COVID-19 and thyroid function in children and young people, is needed

When is poem truly equivalent to LHM? A comparison of complication rates during the learning curve

INTRODUCTION: Per-Oral Endoscopic Myotomy (POEM) has been shown to be an effective treatment for Achalasia, but the endoscopic technique required is complex and not routinely performed. We believe that, for any new procedure, competency can be demonstrated when the complication rate of a new procedure (POEM) equals that of an established one, ie Laparoscopic Heller’s Myotomy + Fundoplication (LHM+F). METHODS: A multicentre, retrospective cohort, comparing complication rates during the learning curve of POEM to a historical cohort of LHM+F, was conducted. A direct head-to-head comparison was performed, followed by a population pyramid of complication frequency. Case sequence was then divided into blocks of 5, and the complication rates during each block was compared to the historical cohort. RESULTS: A total of 123 cases ( LHM+F n=60, POEM n=63) were analysed. Mean age was lower for the POEM group (41.7 years vs 48.1 years, p = 0.03), but there was no difference in gender nor type of Achalasia. The POEM group recorded a shorter overall procedural time (125.9 minutes vs 144.1 minutes, p = 0.023) and longer myotomies (10.1cm vs 6.2cm, p = 0.023). Complication rates were higher in the POEM group (20.6% vs 10.0%, p=0.10), but was not statistical significant. Complication frequency tapered off dramatically after the 25th case in the sequence, and subsequently equalled that of LHM+F. Length of stay was shorter for the POEM group (3.4 days vs 4.8 days, p = 0.014). The post-procedural findings favoured LHM+F, with the post-procedural Eckardt scores significantly lower (0.4 vs 1.6, p < 0.001) and the usage of PPIs lower in this group (20.7% vs 39.4%, p = 0.03). CONCLUSION: POEM is challenging even for experienced endoscopists. From our data, complication rates between POEM and LHM+F equalize after approximately 25 POEMs