Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period.

OBJECTIVE: This study aimed to determine the prevalence and heteroplasmy level(s) of MT-RNR1 variants m.1555A > G and m.1494C > T, which are associated with aminoglycoside-induced hearing loss, in a general perinatal population. This study also aimed to characterize the association of these variants and their heteroplasmy levels with hearing loss outcomes with and without aminoglycoside exposure. STUDY DESIGN: Droplet digital polymerase chain reaction was performed on 479 maternal DNA samples from a general perinatal biobank at our institution to detect the presence and heteroplasmy levels of MT-RNR1 variants m.1555A > G and m.1494C > T. Testing of paired neonatal specimen(s) was planned for positive maternal tests. A retrospective chart review was performed to characterize the population, identify aminoglycoside exposures, and determine hearing outcomes. RESULTS: All maternal samples tested negative for MT-RNR1 variants m.1555A > G and m.1494C > T. Maternal and neonatal subjects had high rates of aminoglycoside exposure (15.9 and 13.9%, respectively). No subjects with sensorineural or mixed hearing loss had documented aminoglycoside exposure. CONCLUSION: This study demonstrated that a larger sample size is needed to establish the prevalence of these variants as no subjects tested positive. Determination of variant prevalence in the neonatal population, association of variant heteroplasmy levels with hearing outcomes, and reliability of maternal testing as a surrogate for neonatal testing are important next steps toward universal prenatal or newborn screening. KEY POINTS: · MT-RNR1 variants are associated with aminoglycoside-induced hearing loss.. · Prevalence of MT-RNR1 variants is uncertain.. · Universal screening for MT-RNR1 variants may be indicated..

Updates in hyponatremia and hypernatremia.

PURPOSE OF REVIEW: Hyponatremia and hypernatremia are commonly encountered electrolyte abnormalities that require timely and careful intervention, as they can be associated with significant morbidity and mortality. RECENT FINDINGS: This review article addresses the etiology, presentation, diagnosis, and management of both hyponatremia and hypernatremia, emphasizing the latest advancements and emerging trends in pediatric care. SUMMARY: A methodical approach is needed to accurately assess and treat hyponatremia and hypernatremia. Both conditions continue to rely on serum and urine testing, however newer tests such as copeptin and stimulated testing may hold promise to further refine testing in the future.

Exogenous Insulin Antibody Syndrome in a Pediatric Patient: Successful Treatment with Mycophenolate Mofetil.

INTRODUCTION: Exogenous insulin antibody syndrome (EIAS) rarely occurs in type 1 diabetes and should be considered in those with blood glucose levels outside the target range requiring greater than 2 units/kg/day of insulin without obesity. We describe the novel treatment of this condition using mycophenolate mofetil monotherapy in a pediatric patient in the outpatient setting. CASE PRESENTATION: A 17-year-old Caucasian male with type 1 diabetes experienced an abrupt increase in insulin requirements from 1.7 to 3.3 units/kg/day. Total insulin level was 7 µIU/mL with free insulin of 4.8 µIU/mL (68% of the total insulin), suggesting the presence of insulin antibodies. Switching from insulin aspart to glulisine was unsuccessful as insulin requirements increased to 4.4 units/kg/day. Treatment with oral mycophenolate mofetil decreased insulin requirements to 1.4 units/kg/day after 7 months. Total and free insulin levels improved to 5.2 and 4.6 µIU/mL, respectively (free insulin was 88% of total insulin). No adverse effects were encountered. CONCLUSION: Mycophenolate mofetil monotherapy is successful in safely treating EIAS in a pediatric patient.

The Bayesian risk estimate at onset (BREMSO) correlates with cognitive and physical disability in patients with early multiple sclerosis.

BACKGROUND: Prevention of long-term disability is the goal of therapeutic intervention in Relapsing Remitting MS (RRMS). The Bayesian Risk Estimate for MS at Onset (BREMSO) gives an individual risk score predicting disease evolution into Secondary Progressive MS (SPMS). We investigated whether BREMSO correlates with physical disability, cognitive dysfunction, and regional brain atrophy early in MS. METHODS: One hundred RRMS patients with at least two years of follow-up were enrolled. BREMSO score as well as Symbol Digit Modalities Test (SDMT) and Multiple Sclerosis Severity Score (MSSS), Timed 25-Foot Walk Test (T25-FW) and 9-Hole Peg Test (9-HPT), were assessed. Intracranial volume (ICV), subcortical gray matter structures and corpus callosum (CC) were automatically segmented on MRI images and their volumes measured. RESULTS: BREMSO score correlated negatively with SDMT at visit1 (ß = -0.33, p = 0.019), visit2 (ß = -0.34, p = 0.017) and visit3 (ß = -0.34, p = 0.014), and positively with MSSS at visit1 (r = 0.38, p = 0.006), visit2 (r = 0.47, p < 0.0001) and visit3 (r = 0.42, p = 0.002), but not with T25-FW and 9-HPT. BREMSO negatively correlated with CC volume at baseline (p < 0.03). No correlations were found with ICV and subcortical gray matter. CONCLUSIONS: BREMSO score at onset correlated with physical disability (MSSS), cognitive function (SDMT) and CC volume measurements in patients with early MS.

Child art psychotherapy in CAMHS: Which cases are referred and which cases drop out?

BACKGROUND: The Vasarhelyi method of child art psychotherapy (CAP) is offered at certain Child and Adolescent Mental Health Services. Children attend three introductory sessions, and then choose to continue weekly CAP or conclude the sessions. AIMS: This study aims to identify the clinical disorders and characteristics of patients referred to CAP, and to determine who engages with the therapy. METHODS: A retrospective review of the clinical records of 67 children who attended CAP in DNCC/Mater CAMHS over 13 years was performed. The data was analysed using Microsoft Excel 12.0 and SPSS version 20. RESULTS: 67 children (57 % male and 43 % female) aged 5-17 years participated in CAP with an average age of 10.6 years. Children attended an average of 14 sessions of CAP, with a range of 1-61 sessions (mean of 13.8 ± 12.9 sessions). Anxiety disorder (28 %), behaviour disorder/ODD (25 %), and ADHD (21 %) are the most common diagnoses referred. These diagnoses along with autism spectrum disorder (ASD) had the highest overall engagement, while those with depression engaged the least. Children with ADHD and with ASD attended high numbers of sessions (with a mean of 23 and 19 respectively). Those who experienced acute life events or difficulties in the home engaged well (60 and 40 % respectively). There was no significant difference found in the percentage of appointments attended by males in comparison to females. CONCLUSION: CAP is generally acceptable to children, with a high average attendance rate. It was noted that children with ADHD and with ASD engaged well with the therapy for prolonged periods, whereas children with depression did not engage so well. We suggest that CAMHS clinics should consider referring children diagnosed with ADHD and children diagnosed with ASD to CAP as an adjunct to other therapies. We suggest that individuals with depression should be referred initially to other therapeutic services as the engagement with CAP was relatively poor.