Scoliosis and Kyphosis Prevalence in Turner Syndrome: A Retrospective Review at a Pediatric Tertiary Care Medical Center.

BACKGROUND: The prevalence of major coronal and sagittal spinal curves (scoliosis and kyphosis) in Turner syndrome (TS) is not well established due to limited reporting. The relationship between growth hormone (GH) therapy and its effect on TS spinal curve incidence is also not well established. METHODS: A retrospective chart review of 306 TS patients from 2007 to 2021 evaluated major coronal and sagittal spinal curves, progression of the curve, and treatment with GH. Statistical significance (defined as P <0.05) between curvature rates and curve progression was compared between GH-treated patients and non-GH-treated patients using a χ 2 or Fisher exact test when appropriate. RESULTS: Thirty-seven of 306 (12%) TS patients had a radiographically relevant spinal deformity. Twenty-seven of 37 (73%) had mild; 4 of 37 (11%) had moderate, and 6 of 37 (16%) had severe curves. Of those with severe, 4 underwent spinal fusion, 1 was treated with bracing, and 1 was braced before a cardiovascular-related death. Regarding GH use among TS patients, 190 of 306 (62%) used GH versus 116 of 306 (38%) who did not. Of those with a spinal curve, 24 of 37 (65%) used GH compared with 13 of 37 (35%) who did not. On univariate analysis, GH therapy was not a risk factor for the diagnosis of a major spinal curve, a more severe degree of the curve at the time of diagnosis, or spinal curve progression ( P >0.05 for all). CONCLUSIONS: This is the largest single institution retrospective review of a TS cohort known to the authors assessing spinal curve prevalence and relation to GH treatment and demonstrates a TS spinal curve rate of 12% (37/306). Four of six (11%) TS patients with a severe curve underwent corrective spine fusion. There was no relationship between the use of GH and the presence of a spinal curve or curve progression. Further study is warranted to determine risk factors for curve progression. LEVEL OF EVIDENCE: Level III. CLINICAL RELEVANCE: This retrospective case series serves to review and address the prevalence of spinal deformity in TS patients and whether GH impacts worsening deformity.

Comparison of Insulin Pump Bolus Calculators Reveals Wide Variation in Dose Recommendations.

BACKGROUND: The introduction of insulin pumps with bolus calculators (BCs) has improved glycemic outcomes and quality of life for those with type 1 diabetes. Despite the increased reliance on BCs, the formulas used to derive recommended boluses are not standardized. Our objective was to examine whether recommendations from different pump BCs vary significantly for identical clinical scenarios. METHODS: Three commercially available insulin pump BCs were programmed with identical settings and then presented with combinations of blood glucose (BG) and carbohydrates (CHOs) to generate a 4-unit bolus. At one- and two-hour time points, while there was insulin-on-board (IOB) present, we simulated various BG and CHO scenarios in order to compare BC-recommended doses. RESULTS: Differences in suggested doses were noted between BCs, as well as within the same brand. The greatest variation was apparent when BG was below target. Doses suggested by one BC varied depending on whether the IOB resulted from a previous dose given for BG or CHO, while the other two BCs adjusted for total IOB regardless of the source. CONCLUSIONS: In this simulation study, there were large differences in recommended doses between BCs due to the unique way each manufacturer incorporates IOB into their formulas as well as the pharmacokinetics used to derive the IOB amount. Providers should be aware that identical pump settings will result in a different dose recommendation for each pump brand and advise patients accordingly.

Dietary and Biological Assessment of the Omega-3 Status of Collegiate Athletes: A Cross-Sectional Analysis.

Omega-3 fatty acids (ω-3 FA) are associated with cardiovascular health, brain function, reduction of inflammation, and several other physiological roles of importance to competitive athletes. The ω-3 FA status of National Collegiate Athletic Association (NCAA) Division I athletes has not been well-described. The purpose of this study was to evaluate the ω-3 FA status of NCAA Division I athletes using dietary and biological assessment methodology. Athletes from nine NCAA Division I institutions from throughout the U.S. (n = 1,528, 51% male, 34 sports represented, 19.9 ± 1.4 years of age) completed a food frequency questionnaire (FFQ) to assess ω-3 FA from diet and supplements. Omega-3 Index (O3i) was evaluated in a sub-set of these participants (n = 298, 55% male, 21 sports represented, 20.0 ± 1.3 years of age) using dried blood spot sampling. Only 6% (n = 93) of athletes achieved the Academy of Nutrition & Dietetics' recommendation to consume 500 mg DHA+EPA per day. Use of ω-3 FA supplements was reported by 15% (n = 229) of participants. O3i was 4.33 ± 0.81%, with no participants meeting the O3i benchmark of 8% associated with the lowest risk of cardiovascular disease. Every additional weekly serving of fish or seafood was associated with an absolute O3i increase of 0.27%. Overall, sub-optimal ω-3 FA status was observed among a large, geographically diverse group of male and female NCAA Division I athletes. These findings may inform interventions aimed at improving ω-3 FA status of collegiate athletes. Further research on athlete-specific ω-3 FA requirements is needed.

Effects of Seasonal Vitamin D3 Supplementation on Strength, Power, and Body Composition in College Swimmers.

The purpose of this study was to evaluate the impact of fall season vitamin D3 supplementation on strength/power, body composition, and anabolic hormones in swimmers with optimal vitamin D status at summer's end. Male and female National Collegiate Athletic Association Division I swimmers (N = 19) with optimal 25-hydroxyvitamin D [25(OH)D] randomly received 5,000 IU of vitamin D3 (VITD) or placebo (PLA) daily for 12 weeks while participating in swimming and strength and conditioning training (August-November). Before and after the intervention, the participants underwent blood sampling for analysis of serum 25(OH)D, parathyroid hormone, total testosterone, free testosterone, sex hormone-binding globulin, and insulin-like growth factor 1, dual-energy X-ray absorptiometry, and strength/power testing (bench press, squat, dead lift, standing broad jump, vertical jump, and dips and pull-ups). Sex was used as a covariate for analyses. The 25(OH)D was decreased by 44% in PLA (p < .05) and increased by 8% in VITD over the 12 weeks. Fat-free mass increased in VITD (56.4-59.1 kg; p < .05), but not PLA (59.4-59.7 kg; p < .01). Significant Group × Time interaction effects were observed for dead lift (F = 21.577, p < .01) and vertical jump (F = 11.219, p < .01), but no other strength/power tests. Total testosterone decreased similarly in both groups, but free testosterone decreased and sex hormone-binding globulin increased only in PLA (p < .01). There were no group differences or changes in insulin-like growth factor 1 with the intervention. The findings suggest that vitamin D supplementation is an efficacious strategy to maintain 25(OH)D during the fall season training and to enhance some aspects of strength/power and fat-free mass in swimmers. Further research on the relationship between vitamin D and anabolic hormones is needed.

The Fontan operation: the pursuit of associated lesions and cumulative trauma.

Our programmatic approach to the Fontan operation has evolved to include using an extracardiac conduit with aggressive presumptive treatment of associated lesions either in the catheterization laboratory or the operating room. Fenestration is used selectively based on hemodynamics, anatomy, and presence of associated lesions. We reviewed our experience to determine the effectiveness and outcome of this strategy and to assess the cumulative trauma to the patients. The records of 137 consecutive patients who underwent Fontan at Miami Children's Hospital from 1995 to 2008 were reviewed. At mean follow up of 5.76 years, freedom from death or transplantation is 94.2% (129/137). Median age at operation was 4.6 years. Longer length of stay correlated with older operative age (P = 0.0056). Pacemakers were implanted in 11.7% (16/137). Additional (not pre-Glenn or pre-Fontan) interventional catheterizations were performed in 51.8% (71/137). Additional operations were done in 10.2% (14/137). No patient has required replacement or revision of the extracardiac conduit. Our current approach to the Fontan operation provides acceptable midterm results. The pursuit of residual lesions results in a significant number of additional interventional catheterizations and operative procedures but might have an important influence on long-term survival after the Fontan procedure.

An institutional approach to, and results for, patient with tetralogy with pulmonary atresia and major systemic-to-pulmonary collateral arteries.

BACKGROUND: Tetralogy of Fallot with pulmonary atresia and diminutive or absent intrapericardial pulmonary arteries is a rare congenital abnormality, with high morbidity and mortality. Despite great advances in surgical- and catheter-based therapies, management remains challenging and controversial. We describe the surgical methods and the results from our institution. METHODS: We performed a retrospective study of the medical records of patients included in our institutional database with tetralogy and pulmonary atresia, concentrating on those predominantly managed by our programme over their lifetime. We obtained demographics and records of all catheterisations and operations, and established mortality. We assessed the current state of those surviving in terms of clinical function at their most recent clinical evaluation and right ventricular function by echocardiography. RESULTS: We assessed 38 patients, with 89% follow-up. The mean number of catheterisations for each patients was 5, with a range from 1 to 15. The mean number of operations was 2.2, with a range from 1 to 6. Unifocalisation had been performed in 26 patients, with 12 undergoing procedures to recruit the native pulmonary vasculature. Of the overall cohort, eight patients died. The ventricular septal defect had been closed in all but two patients. Most patients have no or mild exercise intolerance. Right ventricle dysfunction has been a continuing hazard for 15 years. CONCLUSIONS: An individualised approach, using unifocalisation as well as aggressive attempts to recruit the available native pulmonary vasculature, achieves outcomes in the intermediate term superior to the natural history of the lesions, and comparable with those of other studies.

Urgent permanent pacemaker implantation in critically ill preterm infants.

The management of complete heart block in premature low birth-weight infants, particularly those with hydrops fetalis, is challenging. We report emergent implantation of permanent epicardial pacemakers in the first 48 hours of life in two premature infants (one with hydrops fetalis) with birth weights of 1,400 grams and 1,000 grams.

Transforming patient and family access to medical information: utilisation patterns of a patient-accessible electronic health record.

OBJECTIVE: The purpose of this study was to evaluate the utilisation of a web-based multimedia patient-accessible electronic health record, for patients with congenital cardiac disease. PATIENTS AND METHODS: This was a prospective analysis of patients undergoing congenital cardiac surgery at a single institution from 1 September, 2006 to 1 February, 2009. After meetings with hospital administration, physicians, nurses, and patients, we configured a subset of the cardiac program's web-based clinical electronic health record for patient and family access. The Electronic Health Record continuously measured frequency and time of logins, logins during and between hospitalisations, and page views by type (imaging versus textual data). RESULTS: Of the first 270 patients offered access to the system, 252 became users (93% adoption rate). System uptime was 99.9%, and no security breaches were reported. Users accessed the system more often while the patients were in hospital (67% of total logins) than after discharge (33% of total logins). The maximum number of logins by a family was 440, and the minimum was 1. The average number of logins per family was 25. Imaging data were viewed significantly more frequently than textual data (p 0.001). A total of 12 patients died during the study period and 11 members of their families continued to access their Electronic Health Records after the date of death. CONCLUSIONS: A web-based Patient Accessible Electronic Health Record was designed for patients with congenital cardiac disease. The adoption rate was high, and utilisation patterns suggest that the Electronic Health Record could become a useful tool for health information exchange.

Moderate sedation for echocardiography of preschoolers.

Preschoolers frequently require sedation for echocardiograms. This study compared various sedation drugs at the authors' institution, as well as the charges for moderate versus deep sedation. From 2001 to 2007, sedation was administered to 703 patients ages 2 to 4 years. Four drug regimens were used: chloral hydrate (CH), chloral hydrate with diphenhydramine (CH + D), chloral hydrate with hydroxyzine hydrochloride (CH + H), and midazolam. The mean onset of sedation was 37 min, and the mean duration of sedation was 47 min. The CH group fell asleep the most quickly (30 min; p < 0.001), and the CH + D patients experienced the most prolonged sedations (13%; p < 0.001). Studies were completed by 97% of the chloral hydrate group, 98% of the CH + D group, and 94% of the CH + H group compared with 66% of the midazolam group (p < 0.001). Complications (7.4%) were minor and not significant for any particular medication. The charges for moderate sedation averaged $709 compared with $3,628 for deep sedation. The findings demonstrated that chloral hydrate was the fastest-acting agent and had a high success rate with minimally prolonged sedations. The low complication rate for chloral hydrate, and the much lower cost for its use to induce moderate sedation have made chloral hydrate our preference for the echocardiographic sedation of preschoolers.

Hybrid ventricular decompression in pulmonary atresia with intact septum.

Initial palliation for pulmonary atresia with intact ventricular septum continues to evolve in the face of significant early and late morbidity. In patients with suitable anatomy, decompression of the right ventricle may be the first step in treatment. A hybrid approach to right ventricular decompression, combining surgery and interventional catheterization techniques is described. Direct access to the right ventricle through a subxiphoid incision with transventricular sheath placement is used to provide optimum catheter position for radiofrequency perforation of membranous pulmonary atresia followed by balloon dilation. The technique may address key limitations of the traditional surgical and interventional approaches.

Hybrid treatment of superior vena cava syndrome in a child.

A 10-year-old boy with a history of renal failure and hemodialysis by indwelling superior vena cava (SVC) catheters was diagnosed with SVC obstruction and clinically severe SVC syndrome. During attempted recanalization of the SVC in the cardiac catheterization laboratory, he suffered a perforation of his SVC with pericardial tamponade. After treatment of the perforation and relief of tamponade, he underwent a hybrid procedure to recanalize his SVC. A needle and then guidewire were passed directly from the right atrium through the SVC obstruction and were used to successfully dilate and stent the obstruction.

Midterm results for collaborative treatment of pulmonary atresia with intact ventricular septum.

BACKGROUND: We report a single-institution experience using a collaborative surgical and catheter-based approach to the initial treatment of pulmonary atresia with intact ventricular septum. METHODS: A retrospective review was conducted of all neonates admitted with pulmonary atresia with intact ventricular septum from 1996 to March 2007. RESULTS: We identified 24 patients with a mean age at first intervention of 4.5 days with mean follow-up of 6.05 years (range, 1.9 to 12.7 years). Initial palliation was determined by right ventricular size, morphology, and presence or absence of right ventricular-dependent coronary circulation. Initial catheter-based pulmonary valve perforation and valvuloplasty was performed in 41.7% (10 of 24 patients; group A), and 58.3% (14 of 24 patients) had an initial systemic-to-pulmonary artery shunt (group B). Tricuspid valve size was significantly smaller in group B (median z-score, -0.52 group A versus -2.40 group B; p < 0.001). Placement of a shunt after valvuloplasty in group A was required in 70.0% (7 of 10 patients). There was no mortality in group A, and 70.0% (7 of 10 patients) are in a two-ventricle pathway and 30.0% (3 of 10 patients) are in a 1.5-ventricle pathway. Group B had mortality of 14.3% (2 of 14 patients), both within 5 days of surgery. All group B patients remain in a single-ventricle pathway. Overall survival is 91.7% (22 of 24 patients). CONCLUSIONS: An individualized approach to this complex lesion has good results. If the right ventricle can be safely decompressed and appears usable, the need for a shunt after valvuloplasty does not preclude two-ventricle (or 1.5-ventricle) repair. Anatomy mandating a shunt as initial palliation has substantial early mortality.