Neonatal intraoperative neuromonitoring in thoracic myelocystocele: a case report.

Thoracic myelocystocele are extremely rare, non-terminal, closed neural tube defects. Intraoperative neuromonitoring (IONM) is a mainstay of pediatric spinal surgery. However, in neonates and infants, incomplete myelination of the corticospinal tract presents unique challenges to successful use of IONM in this vulnerable patient population. Surgery can often be delayed until patients are older, but there are circumstances in which early intervention is necessary. We report a case of T6 myelocystocele resection and wound closure in an infant on day of life 15 with the use of IONM. To our knowledge, this is the youngest reported patient to undergo successful IONM in the spinal cord. Given that the majority of thoracic myelocystoceles present without any neurological deficits, early intervention for this rare closed spinal dysraphism is sometimes necessary. This case study reports the possibility of IONM use in neonatal patients and also highlights the techniques that make its use more possible.

Neurotoxicity, general anesthesia in young children, and a survey of current pediatric anesthesia practice at US teaching institutions.

BACKGROUND: Recent articles in both scholarly journals and the lay press about the topic of anesthetic related neurotoxicity have increased the awareness and discussion of this topic with parents and other pediatric medical specialties (i.e., surgeons, radiologists, and pediatricians). AIM: The purpose of the present study was to survey how a subset of pediatric anesthesia departments in the US have responded to the issue of anesthetic related neurotoxicity in terms of clinical practice, training and communication with other medical specialties, and the frequency and timing of discussions with families. METHODS: A survey consisting of 22 questions was sent to PALC (Pediatric Anesthesia Leadership Council) & PAPDA (Pediatric Anesthesia Program Directors Association) via SurveyMonkey. The survey was divided into sections on Anesthesia Faculty/Trainees, Parents and Non-Anesthesia Providers. Responses to the survey were solicited via email to PALC and PAPDA, and then followed up with reminders to individual emails using the mailing lists of both organizations. RESULTS: The results of this survey demonstrate that pediatric anesthesia programs around the US do not have a consistent approach in managing the topic of anesthesia-related neurotoxicity with pediatric anesthesiologists, anesthesiology residents, pediatric anesthesiology fellows and their non-anesthesia medical and surgical colleagues, as well as the discussion of this topic with parents. CONCLUSION: A significant need exists to provide information to other pediatric professionals and parents. A consistent message from all providers that includes what is known, and indeed more importantly what is not known may be a useful approach.

The Impact of Telehealth on Primary Care Physician Panel Sizes: A Modeling Study.

INTRODUCTION: Most research on the use of telehealth in lieu of in-office visits has focused on its growth, its impact on access, and the experience of physicians and patients. One important issue that has not gotten much attention is the potential for telehealth to significantly increase physician capacity by reducing nonvalue adding activities and patient no-shows. We explore this in this article. METHODS: We use data from the electronic health records of 2 health care systems and information gathered from family medicine physician focus groups to develop estimates of visit durations and no-show rates for tele-visits. We use these in a simulation model to determine how patient panel sizes could be increased while maintaining high levels of access by substituting tele-visits for in-person visits. RESULTS: We found that tele-visits reduce the nonvalue-added time physicians spend with patients as well as patient no-shows. At current levels of tele-visit utilization, the use of tele-visits may translate into more than a 10% increase in patient panel sizes assuming a modest reduction in visit durations and no-shows, and as much as a 30% increase assuming that half of all visits could be effectively conducted virtually and result in a greater reduction in visit durations and no-shows. DISCUSSION: Our study provides evidence that a major benefit of using telehealth for many routine encounters is a reduction in wasted physician time and a substantial increase in the number of patients that a primary care physician can care for without jeopardizing access to care.

The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study.

BACKGROUND: The etiology of cardiovascular disease (CVD) is multifactorial. Efforts to identify genes influencing CVD risk have met with limited success to date, likely because of the small effect sizes of common CVD risk alleles and the presence of gene by gene and gene by environment interactions. METHODS: The HAPI Heart Study was initiated in 2002 to measure the cardiovascular response to 4 short-term interventions affecting cardiovascular risk factors and to identify the genetic and environmental determinants of these responses. The measurements included blood pressure responses to the cold pressor stress test and to a high salt diet, triglyceride excursion in response to a high-fat challenge, and response in platelet aggregation to aspirin therapy. RESULTS: The interventions were carried out in 868 relatively healthy Amish adults from large families. The heritabilities of selected response traits for each intervention ranged from 8% to 38%, suggesting that some of the variation associated with response to each intervention can be attributed to the additive effects of genes. CONCLUSIONS: Identifying these response genes may identify new mechanisms influencing CVD and may lead to individualized preventive strategies and improved early detection of high-risk individuals.

Genetic influences on blood pressure response to the cold pressor test: results from the Heredity and Phenotype Intervention Heart Study.

OBJECTIVES: Blood pressure (BP) response to the cold pressor test (CPT) has been found to predict the development of hypertension and cardiovascular disease in prospective studies. The determinants of BP response to the CPT, including the role of genetic factors, however, are largely unknown. Additionally, to our knowledge, no study has examined the genetics of BP recovery from the CPT, including whether shared genetic factors influence both reactivity and recovery. METHODS: As part of the Heredity and Phenotype Intervention Heart Study, we administered a 2.5 min hand CPT to 835 participants from 18 extended Amish families. We estimated the heritability of BP reactivity and recovery (measured by the incremental area under the curve) and the genetic correlations between baseline, reactivity, and recovery BP phenotypes. RESULTS: After adjusting for relevant covariates, including baseline BP, the heritability estimates for both systolic BP (SBP) and diastolic BP (DBP) reactivity and recovery differed significantly from zero (P < 0.01), with 12-25% of the total variation in BP response attributable to additive genetic effects. The genetic correlations between baseline DBP and response phenotypes were not significantly different from zero, whereas the genetic correlation between DBP reactivity and recovery (0.74) was significantly different from zero and 1 (P < 0.005). The genetic correlation between SBP reactivity and recovery was similar (0.81; P < 0.05). CONCLUSION: We conclude that, independent of baseline BP, BP response to CPT is heritable, and that both shared and unshared genetic factors influence BP reactivity and recovery, thus stressing the importance of identifying genetic variants that influence both traits.

Interexaminer reliability study of a standardized myofascial diagnostic technique of the superior thoracic inlet.

Regional fascial motion palpation is often incorporated by osteopathic practitioners to enable them to identify superior thoracic inlet (STI) myofascial somatic dysfunction motion patterns; however without standardized instruction, diagnostic outcomes may vary between examiners. This study proposes a protocol for diagnosing the STI motion pattern that standardizes examiner hand placement, palpatory discrimination, posture, and relative body positioning. The study design incorporated useful infrastructure recommended by the Fédération Internationale de Médecine Manuelle (FIMM) including protocol agreement steps prior to conducting the formal interexaminer reliability study with the goals of attaining >80% interexaminer agreement and kappa values >0.6 for each cardinal plane. The agreement phase comprised of testing 52 participants acquired agreements of 92.3% (rotation), 88.9% (translation), and 94.2% (sagittal). Kappa value testing involving an additional 82 participants obtained values of 0.65 (rotation), 0.59 (translation), and 0.70 (sagittal). Such kappa values endorse fair-to-excellent positive interexaminer correlations, demonstrating utility of this standardized palpatory protocol for STI myofascial dysfunctional diagnosis.

Identifying the readiness of patients in implementing telemedicine in northern Louisiana for an oncology practice.

This study identified the readiness factors that may create challenges in the use of telemedicine among patients in northern Louisiana with cancer. To identify these readiness factors, the team of investigators developed 19 survey questions that were provided to the patients or to their caregivers. The team collected responses from 147 respondents from rural and urban residential backgrounds. These responses were used to identify the individuals' readiness for utilising telemedicine through factor analysis, Cronbach's alpha reliability test, analysis of variance and ordinary least squares regression. The analysis results indicated that the favourable factor (positive readiness item) had a mean value of 3.47, whereas the unfavourable factor (negative readiness item) had a mean value of 2.76. Cronbach's alpha reliability test provided an alpha value of 0.79. Overall, our study indicated a positive attitude towards the use of telemedicine in northern Louisiana.

Pathologic alterations of cutaneous innervation and vasculature in affected limbs from patients with complex regional pain syndrome.

Complex regional pain syndromes (CRPS, type I and type II) are devastating conditions that can occur following soft tissue (CRPS type I) or nerve (CRPS type II) injury. CRPS type I, also known as reflex sympathetic dystrophy, presents in patients lacking a well-defined nerve lesion, and has been questioned as to whether or not it is a true neuropathic condition with an organic basis. As described here, glabrous and hairy skin samples from the amputated upper and lower extremity from two CRPS type I diagnosed patients were processed for double-label immunofluorescence using a battery of antibodies directed against neural-related proteins and mediators of nociceptive sensory function. In CRPS affected skin, several neuropathologic alterations were detected, including: (1) the presence of numerous abnormal thin caliber NF-positive/MBP-negative axons innervating hair follicles; (2) a decrease in epidermal, sweat gland, and vascular innervation; (3) a loss of CGRP expression on remaining innervation to vasculature and sweat glands; (4) an inappropriate expression of NPY on innervation to superficial arterioles and sweat glands; and (5) a loss of vascular endothelial integrity and extraordinary vascular hypertrophy. The results are evidence of widespread cutaneous neuropathologic changes. Importantly, in these CRPS type I patients, the myriad of clinical symptoms observed had detectable neuropathologic correlates.

Coronary artery calcification in patients with primary hyperparathyroidism in comparison with control subjects from the multi-ethnic study of atherosclerosis.

OBJECTIVE: To determine whether coronary artery calcification (CAC) is increased in patients with primary hyperparathyroidism (pHPT) because of the presence of hypercalcemia, which has been shown in vitro to promote vascular calcification. METHODS: Electron beam computed tomography of the coronary arteries was performed on 20 patients with pHPT referred to our endocrinology clinic for evaluation of hypercalcemia. All patients were nonsmokers, with normal renal function, no history of diabetes, and no history of coronary artery disease. CAC in the patients with pHPT was compared with that in population-based control subjects from the Multi-Ethnic Study of Atherosclerosis (MESA). Two methods of analysis were used: (1) calculation of the odds ratio of CAC and (2) a nested case-control (1:4) study. RESULTS: One patient with pHPT had a history of nephrolithiasis; the other 19 patients were asymptomatic. The mean age (+/- SD) of the patients with pHPT was 57.3 +/- 9.1 years, the mean serum calcium concentration was 2.68 +/- 0.18 mmol/L, and the mean intact parathyroid hormone level was 119 +/- 76.5 pg/mL. Of the 20 patients, 14 had CAC scores of zero. The odds ratio for measurable CAC in the presence of pHPT in comparison with that in the MESA control subjects was 0.17, which was not significant. In the matched analysis, the CAC scores for the patients with pHPT did not differ significantly from those for the MESA control subjects (P = 0.25 with use of the Wilcoxon test). CONCLUSION: We found no evidence for a difference in CAC in patients with pHPT in comparison with the population-based control subjects in this small pilot study.

Physical activity and the association of common FTO gene variants with body mass index and obesity.

BACKGROUND: Common FTO (fat mass and obesity associated) gene variants have recently been associated with body mass index (BMI) and obesity in several large studies. The role of lifestyle factors (such as physical activity) in those with an underlying FTO genetic predisposition is unknown. METHODS: To determine if FTO variants are associated with BMI in Old Order Amish (OOA) individuals, and to further determine whether the detrimental associations of FTO gene variants can be lessened by increased physical activity, a total of 704 healthy OOA adults were selected from the Heredity and Phenotype Intervention (HAPI) Heart Study, an investigation of gene x environment interactions in cardiovascular disease, for whom objective quantified physical activity measurements were available and for whom 92 single-nucleotide polymorphisms (SNPs) in FTO were genotyped. RESULTS: Twenty-six FTO SNPs were associated with BMI (P = .04 to <.001), including rs1477196 (P < .001) and rs1861868 (P < .001), 2 SNPs in moderate linkage disequilibrium in the OOA (D' = 0.82; r(2) = 0.36). Stratified analyses of rs1861868 revealed its association with BMI to be restricted entirely to those subjects with low sex- and age-adjusted physical activity scores (P < .001); in contrast, the SNP had no effect on those with above-average physical activity scores (P = .29), with the genotype x physical activity interaction achieving statistical significance (P = .01). Similar evidence for interaction was also obtained for rs1477196. CONCLUSIONS: Our results strongly suggest that the increased risk of obesity owing to genetic susceptibility by FTO variants can be blunted through physical activity. These findings emphasize the important role of physical activity in public health efforts to combat obesity, particularly in genetically susceptible individuals.