Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and aldosterone synthesis and excessive androgen production. Adult height is often compromised in affected patients. Intellectual capability remains intact in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, based on previous studies. 47,XXY (KS) is a sex chromosomal aneuploidy that manifests with hypergonadotropic hypogonadism, tall stature, and variable intellectual and behavioral dysfunction. This clinical report describes an infant with 21-hydroxylase deficiency congenital adrenal hyperplasia and 47,XXY. The results of his neurodevelopmental, endocrine, neurological, and physical therapy evaluations during his first 22 months are included and were normal. This is the first published case investigating the neurodevelopmental profile of a patient with the combination of these two genetic disorders.

Role of continuous glucose monitoring in the management of glycogen storage disorders.

Management of liver glycogen storage diseases (GSDs) primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring. Self-monitoring of blood glucose is typically done 3-6 times per day, and may not sufficiently capture periods of asymptomatic hypoglycemia, particularly during sleep. Continuous glucose monitoring systems (CGMS) provide 24-h continuous glucose data and have been used effectively in diabetes mellitus to monitor metabolic control and optimize treatment. This is a relatively new approach in GSDs with only a handful of studies exploring this modality. In this study we used Dexcom CGMS to study the glycemic profile of 14 pediatric and six adult patients with GSD I, III, and IX. A total of 176 days of CGMS data were available. The CGMS was found to be a reliable tool in monitoring glucose levels and trends at all times of the day with good concordance with finger-stick glucose values. This study revealed that in addition to overnight hypoglycemia, CGMS can uncover previously undetected, subclinical, low glucose levels during daytime hours. Additionally, the CGMS detected daytime and overnight hyperglycemia, an often overlooked concern in liver GSDs. The CGMS with concurrent dietary adjustments made by a metabolic dietitian improved metabolic parameters and stabilized blood glucose levels. The CGMS was found to be a safe, effective, and reliable method for optimizing treatment in patients with GSD I, III, and IX.

A Tablet-Based Educational Tool: Toward More Comprehensive Pediatric Patient Education.

There is a paucity of data on the impact of mobile technology on physician-led education in the pediatric population. We performed a prospective pilot study in a pediatric diabetes clinic to evaluate the impact of tablet-based patient education. A total of 106 patients and caregivers completed postclinic surveys, 64 (60%) in the intervention group and 42 (40%) in the control group. The majority of the intervention group patients (86%) liked tablet use and felt it was better or similar (99%) to baseline. Moreover, a majority receiving tablet-based education perceived an increase in diabetes knowledge (57%) compared with baseline (39%), though the difference did not reach statistical significance ( P = .059). Those who received tablet-based education felt they were educated on more diabetes-related topics. As the use of mobile technology in medicine grows, additional research is needed to compare mobile technology with traditional methods in providing education to the pediatric population.

Can Tablet Computers Enhance Faculty Teaching?

BACKGROUND: Learner benefits of tablet computer use have been demonstrated, yet there is little evidence regarding faculty tablet use for teaching. OBJECTIVE: Our study sought to determine if supplying faculty with tablet computers and peer mentoring provided benefits to learners and faculty beyond that of non-tablet-based teaching modalities. METHODS: We provided faculty with tablet computers and three 2-hour peer-mentoring workshops on tablet-based teaching. Faculty used tablets to teach, in addition to their current, non-tablet-based methods. Presurveys, postsurveys, and monthly faculty surveys assessed feasibility, utilization, and comparisons to current modalities. Learner surveys assessed perceived effectiveness and comparisons to current modalities. All feedback received from open-ended questions was reviewed by the authors and organized into categories. RESULTS: Of 15 eligible faculty, 14 participated. Each participant attended at least 2 of the 3 workshops, with 10 to 12 participants at each workshop. All participants found the workshops useful, and reported that the new tablet-based teaching modality added value beyond that of current teaching methods. Respondents developed the following tablet-based outputs: presentations, photo galleries, evaluation tools, and online modules. Of the outputs, 60% were used in the ambulatory clinics, 33% in intensive care unit bedside teaching rounds, and 7% in inpatient medical unit bedside teaching rounds. Learners reported that common benefits of tablet computers were: improved access/convenience (41%), improved interactive learning (38%), and improved bedside teaching and patient care (13%). A common barrier faculty identified was inconsistent wireless access (14%), while no barriers were identified by the majority of learners. CONCLUSIONS: Providing faculty with tablet computers and having peer-mentoring workshops to discuss their use was feasible and added value.

Hypercalcemia in children.

Hypercalcemia is an occasional clinical problem in outpatient and in patient pediatrics. If undiagnosed and untreated, it can cause significant sequelae. While the differential diagnosis of hypercalcemia is expansive, the clinician can isolate the cause with their patients if a step-wise approach is taken clinically and biochemically. Here we present the case of an adolescent female with symptomatic hypercalcemia and a family history of hypercalcemia. Next we discuss each cause within the differential diagnosis of hypercalcemia, and provide an algorithm for evaluating patients. We then revisit the case to identify the cause with the proband.

Hyperthyroidism and lupus-like syndrome in an adolescent treated with minocycline for acne vulgaris.

Minocycline is a tetracycline antibiotic commonly used in the treatment of acne. While it is generally considered to be a safe medicine, a number of side effects have been associated with its use. We describe an adolescent boy who developed hyperthyroidism and a drug-induced lupus-like syndrome following minocycline treatment for his acne.