Combined growth hormone stimulation testing: Could the tests be shortened?

Introduction: Growth hormone stimulation tests (GHST) remain the cornerstone for diagnosing growth hormone deficiency (GHD), yet they can be lengthy and costly. We aimed to examine whether the combined clonidine and glucagon stimulation test (CGST) and l-dopa and glucagon stimulation test (LDGST) can be shortened without compromising the test's specificity. Material and methods: We retrospectively analyzed the baseline characteristics, auxological and laboratory data of children with short stature who had undergone a CGST and an LDGST for GHD. We compared the diagnostic accuracy for the standard test and shortened test, eliminating time points of 0 and 210 min. Results: We reviewed 830 charts (8.17 ± 2.92 years old; 56.27% males), with 431 (57.0%) children in the CGST group, and 38 (51.35%) in the LDGST group who tested negative for GHD. The peak and maximum GH levels occurred at the 60-min time point for both the CGST and LDGST. Eliminating the 0-min time point was the only time that did not affect the specificity of the CGST, with a false-positive rate of 2 (2.99%), specificity of 0.99 (0.99-0.99), and p value of 0.25. Eliminating the 0- and 210-min time points did not affect the specificity of the LDGST, with a false-positive rate of 2 (5.26%), specificity of 0.95 (0.95-0.95), and p value of 0.24. Conclusions: We concluded that 0-min time point could be eliminated without compromising the combined GHST diagnostic value, thus resulting in cost reduction. Larger studies are needed for the combined LDGST to explore whether the 30- and 210-min time points could be eliminated, thus resulting in cost and time savings.

Diagnostic Value of IGF-1 in Growth Hormone-Deficient Children: Is a Second Growth Hormone Stimulation Test Necessary?

Objective: we assessed the diagnostic accuracy of insulin-like growth factor (IGF) 1 measurements with 1 growth hormone stimulation test (GHST) vs performing 2 GHSTs as the standard test to confirm the diagnosis of growth hormone deficiency (GHD) in children. Methods: We retrospectively analyzed the baseline characteristics, anthropometric measurements, and laboratory data of 703 children with short stature, aged 4-14 years (mean age, 8.46 ± 2.7 years), who had undergone 2 GHSTs. We compared the diagnostic values of IGF-1 levels by using a cut-off value of ≤0 SD score, along with results of a single clonidine stimulation test (CST). We evaluated the false-positive rate, specificity, likelihood ratio, and area under the curve (AUC) of the 2 diagnostic methods. GHD was diagnosed if the peak growth hormone level was <7 ng/mL on 2 GHSTs. Results: Of the 724 children, 577 (79.7%) had a low IGF-1 level (mean 104.9 ± 61.4 ng/mL), and 147 (20.3%) had a normal IGF-1 level (mean 145.9 ± 86.9 ng/mL). GHD was diagnosed in 187 patients (25.8%), of whom 146 (25.3%) had a low IGF-1 level. An IGF-1 level reflecting ≤0 SDs in combination with results of a single CST had a specificity of 92.6%, a false-positive rate of 5.5%, and an AUC of 0.6088. Using an IFG-1 cut-off level of ≤-2 SDs did not alter the diagnostic accuracy. Conclusion: Low IGF-1 values of ≤0 SDs or ≤-2 SDs in combination with results of a single CST had poor diagnostic accuracy for GHD.

Student satisfaction with videoconferencing teaching quality during the COVID-19 pandemic.

BACKGROUND: The coronavirus disease 2019 pandemic prompted the pediatric department at King Abdulaziz University to continue students' educational activities by offering courses online that utilized web video conferencing (WVC). Given the uncertainties of WVC educational quality and the challenge of shifting to an online environment, this study aimed to evaluate student satisfaction with the teaching quality of case-based discussion (CBD) sessions conducted through WVC. METHODS: One hundred sixty-two undergraduate medical students in pediatrics completed the reduced Students' Evaluation of Educational Quality (SEEQ) survey with a five-point Likert scale over 5 weeks. The WVC CBD sessions were facilitated by 50 faculty members. RESULTS: 82% of respondents were highly satisfied with the WVC CBD session's teaching quality. The majority agreed that the sessions were intellectually challenging, that the instructors were dynamic, and encouraged students to participate. No statistically significant correlation was found between student satisfaction and technical issues (r = 0.037, p = 0.003). CONCLUSIONS: WVC teaching had an overall positive outcome on student satisfaction, and teaching quality relied on teaching, cognitive, and social presence rather than technology. However, technology remains an important platform that supports teachers' educational activities. Thus, implementing a blended pediatric course to augment future course delivery is optimal.

Serum vitamin D status following pediatric cardiac surgery and association with clinical outcome.

Our aim is to determine the prevalence of vitamin D deficiency in children with congenital heart disease (CHD). In addition, we demonstrated the effect of cardiopulmonary bypass (CPB) on vitamin D, parathyroid hormone (PTH), and calcium levels. The association between perioperative vitamin D levels and postoperative clinical outcomes has been explored. A prospective observational study was conducted from February 2018 to June 2019 on 69 children undergoing elective surgery for CHD under CPB. Blood samples were collected preoperatively, immediate postoperatively, and 24 h postoperatively. Vitamin D deficiency was present in 34 (49.3%) patients preoperatively and 63 (91.3%) patients immediately postoperative. We identified 42.03% decline of 25(OH)D immediately postoperative. Changes in ionized calcium (iCa) concentrations were accompanied by reciprocal alterations in PTH concentrations. Lower postoperative 25(OH)D was associated with higher maximum vasoactive inotropic score (VIS) in the first 24 h postoperative (r = - 0.259, p = 0.03).Conclusion: Vitamin D deficiency is common in children with CHD and the majority are vitamin D deficient following cardiac surgery with acute decline of serum 25(OH)D after CPB. Lower postoperative vitamin D levels in children undergoing cardiac surgery are associated with the need for increasing the inotropic support.What is Known:• Vitamin D is a pleiotropic hormone, important for calcium homeostasis.• Vitamin D deficiency might affect the outcome in critically ill patients.What is New:• Cardiopulmonary bypass causes acute decline of vitamin D in children.• Lower postoperative vitamin D is associated with higher inotropic support.

EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.

BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by a biallelic mutation in the gene encoding eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) on chromosome 2p11.2. This condition is characterized by permanent early-onset diabetes mellitus, epiphyseal dysplasia, and hepatic dysfunction. We report a patient with WRS born to a consanguineous marriage due to a novel biallelic frameshift mutation in the EIF2AK3 gene. CASE PRESENTATION: Our patient was a 2-year-and-6-month-old Yemeni girl born to consanguineous parents who was diagnosed with neonatal diabetes at 20 days of age. She presented with chronic diarrhea and liver dysfunction. The child was normocephalic and exhibited failure to thrive and hepatomegaly with no skeletal deformities. Further investigations revealed microcytic anemia, liver impairment and primary hypothyroidism. Genetic testing confirmed the diagnosis of WRS via identification of a novel biallelic frameshift mutation in the EIF2AK3 gene. During her hospital stay, she went into septic shock and developed multi-organ failure, including fulminant hepatic failure. She unfortunately died within 2 weeks of her hospital stay. CONCLUSIONS: Wolcott-Rallison syndrome is recognized as the most common cause of early-onset diabetes in infants born to consanguineous marriages. Screening for genetic mutations in EIF2AK3 is recommended for establishing early diagnosis, providing genetic counselling, and predicting the development of additional clinical features, most importantly hepatic failure. Hence, this screening is important for guiding optimal management and improving patient outcome.

Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants.

OBJECTIVE: To explore the temporal evolution of 25-hydroxyvitamin D [25(OH)D], its epimer, parathyroid hormone (PTH), fibroblast growth factor 23 (FGF23), and minerals in healthy appropriate-for-gestational-age preterms. PATIENTS: A prospective study was undertaken in infants born at 28-32 weeks with monitoring at 1, 3, 5 weeks and term. METHODS: Morning plasma and urine calcium; phosphorus; creatinine; PTH, C-terminal and intact FGF23 (iFGF23) and liquid chromatography-tandem mass spectrometry measurements of 25(OH)D were undertaken. Analyses included regression models. RESULTS: Some 11 infants (5 males) were recruited at a median gestational age of 31.2 weeks (interquartile range: 28.1-31.8). Standard chemistries were normal. No infant was vitamin D deficient; 58% achieved 50 nmol/L with a median intake of 540 IU/day. High concentrations of C-3 epimer were detected. iFGF23 and C-terminal concentrations were persistently elevated (double and ten times adult norms, respectively). Tubular resorption of phosphorus was normal (88%±8%). CONCLUSIONS: Most infants achieved acceptable 25(OH)D3 concentrations. The biologic significance of the elevated FGF23 is unclear.

Differential low uptake of free vitamin D supplements in preterm infants: the Quebec experience.

BACKGROUND: Vitamin D is essential for bone mineralization, particularly in premature infants. For nearly 20 years, Quebec has offered a program of free vitamin D supplements via its public medication insurance plan Régie de l'Assurance Maladie du Québec (RAMQ). The objective of this study is to evaluate the number of preterm infants that obtained at least one bottle (50 doses) of vitamin D supplement through this program and to determine if uptake varied by gestational age. METHODS: This was a retrospective cohort study of preterm infants covered by RAMQ and born from 1998 to 2008; all infants had 1 year of follow-up data regarding supplement use. Data were extracted from the Quebec Pregnancy Cohort, a linked administrative database and were stratified by early (<34 weeks) or late gestational age premature infants. The number of infants obtaining supplements was the primary outcome and their characteristics were compared across gestational age groups. Predictors for participation (obtaining at least 1 bottle) or adherence (2 or more bottles) were identified via logistic regression (GEE). RESULTS: 10288 infants were eligible; the percentage exposed to vitamin D was 24.5% (37.4%- early; 20.7%-late preterm infants, p < 0.001). The median number of bottles obtained was 2 for early and 1 for late preterms. For all premature infants, there was an apparent geometric decline in the infants obtaining subsequent bottles of supplements over the 12 month period. Additionally, there was a significant decline in program participation over time (OR = 0.90/year, 95% CI: 0.89-0.90) regardless of gestational age. Older or more educated mothers were positive predictors for participation. A prescription from a pediatrician significantly increased the odds of obtaining the supplement. CONCLUSION: Early preterm infants were more likely to obtain the supplement post-discharge; uptake was low and decreased with time for both age categories. Specifically, targeting late preterm infants and young mothers with less education could improve vitamin D uptake.