Protocol-Based Standardized Endocrinological Evaluation of Children With Traumatic Brain Injury: A Quality Improvement Initiative.

INTRODUCTION: Traumatic brain injury (TBI) can disrupt the hypothalamo-pituitary axis, causing neuroendocrine dysfunction. As a third of children can develop post-traumatic hypothalamo-pituitary axis dysfunction (HPAD), a longitudinal follow-up is required in children with TBI. METHOD: The study comprised a pre-quality improvement (QI) phase (baseline phase) and a QI phase (post-intervention phase). Retrospective data were collected on children with TBI at our hospital during the pre-QI phase of the study to estimate the baseline data on HPAD prevalence and pediatric endocrine referral rate. Guidance protocol for standardizing the pediatric endocrine referral, evaluation, and follow-up of children with TBI was implemented. Prospective data were collected to estimate outcome measures (prevalence of HPAD, rate of initial endocrine consultation and outpatient follow-up) and process measures (protocol adherence rate). RESULT: Twenty-seven children, aged ≤19 years, were admitted with TBI in the pre-QI phase. The median age was 9 years. Motor vehicle accidents predominated. Thirty percent had limited endocrine evaluation, and 4% had transient cranial diabetes insipidus (DI). The QI phase included 8 children. Demographic data were similar to those in the pre-QI phase. Both outcome and process measures increased to 75% from the pre-QI phase following the protocol implementation. CONCLUSION: A lower prevalence rate of HPAD in the current cohort may be owing to underevaluation and a smaller sample size. The QI initiative incorporating a guidance protocol-based endocrinological approach to children with TBI improved the pediatric endocrinology referral and follow-up rates.

Can Innovative Technologies Overcome HbA1c Disparity for African-American Youth with Type 1 Diabetes?

Achieving normal or near-normal glycemic control as reflected by HbA1c levels in patients with type 1 diabetes (T1D) is important for preventing the development and progression of chronic complications. Despite delineation and dissemination of HbA1c management targets and advances in insulin pharmacology, insulin delivery systems, and glucose monitoring, the majority of children with T1D do not achieve HbA1c goals. In particular, African Americans are more likely not to reach HbA1c goals and have persistently higher HbA1c than Non-Hispanic Whites. Availability of pumps and other technology has not eliminated the disparity in HbA1c. Multiple factors play a role in the persisting racial disparity in HbA1c outcome. The carefully designed application and deployment of new technology to help the patient/family and facilitate the supportive role of the diabetes management team may be able to overcome racial disparity in glycemic outcome and improve patient quality of life.

Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication.

OBJECTIVES: We report an uncommon case of severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8 with 2p duplication. After ruling out all the possible etiologies of hypercalcemia, we speculated a potential contribution of 2p duplication involving 225 genes. CASE PRESENTATION: An 11-month old female infant with global developmental delay, failure to thrive (FTT), hypotonia, amblyopia, constipation, and recent onset emesis was admitted to the hospital after an incidental diagnosis of severe hypercalcemia. Labs revealed normal serum phosphate, serum 25 (OH) vitamin D levels, and low serum parathyroid hormone (PTH) level. Elevated urinary calcium to creatinine ratio ruled out the possibility of hypocalciuric hypercalcemia. Endocrinological evaluations, including thyroid function test, Adrenocorticotropic hormone (ACTH), Cortisol, Insulin like growth factor 1 (IGF-1) were all normal. Transient elevation of parathyroid hormone related peptide (PTHrP) level was noted, but skeletal survey, chest X-ray and lab values including low 1,25 (OH)2 cholecalciferol, lactate dehydrogenase (LDH), uric acid (UA), erythrocyte sedimentation rate (ESR) excluded granulomatous diseases and malignancies. Further evaluation with chromosomal microarray (CMA) and whole exome gene sequencing (WES) showed an unbalanced chromosomal translocation with 2p duplication involving 225 genes. The infant showed an improvement with medical management. CONCLUSIONS: 2p duplication syndrome is a rare syndrome characterized by developmental delay, feeding problems, FTT, hypotonia, constipation, and unusual facial features as noted in our case. However, hypercalcemia has been only reported once earlier in 2p duplication syndrome, which was the presenting feature of our case. We attributed this genetic syndrome as an underlying etiology for hypercalcemia after ruling out all the common potential causes of hypercalcemia.

Implementation of a Modified Neonatal Early-onset Sepsis Calculator in Well-baby Nursery: a Quality Improvement Study.

BACKGROUND: The use of sepsis risk scores (SRSs), calculated based on the neonatal early-onset sepsis (EOS) calculator, has been shown to limit the unwarranted sepsis evaluations and to reduce the empirical use of antibiotics in neonates.s. PURPOSE: To reduce both the sepsis evaluation rate (SER) and antibiotic initiation rate (AIR) by 25% from baseline by incorporating conservative SRS cutoff values into the routine sepsis risk assessment of well-appearing neonates born at 34 weeks and older gestation. METHODS: During a pre quality improvement (QI) period (June 2016-August 2016), a QI team calculated SRS on all newborn infants to determine safe SRS cutoff values. During the QI-study period (September 2016-November 2017), we implemented an EOS evaluation algorithm based on 2 SRS cutoff values, 0.05 (later increased to 0.1) for sepsis evaluation and 0.3 for the initiation of antibiotic therapy. Monthly SER and AIR were summarized and analyzed by using standard statistical tests and statistical process control charts. During the surveillance phase (January 2019-June 2019), we evaluated whether previously attained improvements in SER and AIR were sustained. RESULTS: During the pre-QI period, the mean (±SD) of monthly SER and monthly AIR were 23.8% (±5.7%) and 6.2% (±0.4%), respectively. During the QI-study period, the mean (±SD) of monthly SER and monthly AIR decreased to 15% (±4.7%), P = 0.01, and 3.2% (±1.5%), P = 0.005, respectively. During the surveillance period, both outcome measures were comparable with the QI-study period. CONCLUSION: The implementation of a modified EOS calculator-based EOS algorithm using a conservative approach was successful in reducing antibiotic exposure and the need for blood work in well-appearing neonates.

Low function of natural killer cells in treated classic Menkes disease.

BACKGROUND: Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural killer (NK) cell dysfunction. CASE: A 2-year-old, Caucasian male child presented at 8-month-old of age with persistent hypotonia, kinky hair and developmental regression. Diagnosis of MD was based on low serum levels of copper [5 mg/dl (18-37)] and ceruloplasmin [18 ug/dl (75-153)] and gene-targeted deletion/duplication analysis performed by the reference laboratory. Brain MRI showed mild hypoplasia of the cerebellar vermis and vascular tortuosity typical of MD. Copper chloride treatment was immediately initiated. The child became more alert with excellent eye contact and purposeful movements. The child was hospitalized for recurrent respiratory infections, each time caused by enterovirus as confirmed by multiplex polymerase chain reaction (PCR). Extensive immunologic studies were negative, except for a severe NK cell dysfunction on multiple occasions (0.6 NK lytic Units; N > 2.6). CONCLUSION: We postulate that NK cell dysfunction in a classic MD can be explained by the deficient incorporation of copper in the endoplasmic reticulum resulting in an abnormal Fenton chemistry within phagosomes.

Reducing antibiotic utilization rate in preterm infants: a quality improvement initiative.

BACKGROUND: Judicious use of antibiotic therapy in preterm infants is necessary as prolonged and unwarranted use of antibiotics have been associated with adverse short-term and long-term outcomes. LOCAL PROBLEM: Our baseline data review revealed overuse and unnecessary prolonged antibiotic exposure among preterm infants despite a low suspicion for sepsis. METHODS AND INTERVENTIONS: The baseline overall AUR was calculated retrospectively from our pharmacy database for a period of 4 months prior to the quality improvement (QI) initiative (pre-QI phase). The principal QI intervention included the development and implementation of guidance algorithms for evaluation and management of suspected sepsis incorporating key QI measures, such as an emphasis on early discontinuation of antibiotics by 36 h if blood culture remained negative and the introduction of multiplex polymerase chain reaction assay for early identification of causative organisms. This QI initiative was implemented through multiple Plan-Do-Study-Act cycles, starting in February 2016 (QI phase), with an objective to achieve a 10% reduction in the baseline overall AUR by December 2016, in preterm infants with gestational ages between 250/7 and 336/7 weeks. Data for the QI phase of the study were collected prospectively. RESULT: The overall AUR (outcome measure) decreased from 154.8 to 138.4 days of treatment per 1000 hospital days (10.6% decrease, p < 0.05) over the 11-month period. However, the overall rate of adherence to guidance algorithm (process measure) remained below the target goal of 90%. CONCLUSION: This multiphase QI initiative was able to reduce the overall AUR at our NICU. The beneficial impact of this decrease in AUR in preterm infants remains to be determined.

Maternal Syphilis: An Independent Risk Factor for Mother to Infant Human Immunodeficiency Virus Transmission.

Syphilis is associated with increased human immunodeficiency virus acquisition and sexual transmission; we examined impact on human immunodeficiency virus mother-to-child transmission among mother-infant pairs enrolled in the India Six-Week Extended-Dose Nevirapine study. Maternal syphilis, diagnosed serologically using Venereal Disease Research Laboratory titer plus Treponema Pallidum Hemagglutination Assay, was associated with 2.5-fold greater risk.