Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.

MOTIVATION: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure. RESULTS: Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research. AVAILABILITY AND IMPLEMENTATION: phecodeX is available at https://github.com/PheWAS/phecodeX.

The impact of HIV and ART exposure during pregnancy on fetal growth: a prospective study in a South African cohort.

BACKGROUND: In utero exposure to human immunodeficiency virus (HIV) and antiretroviral (ART) is associated with adverse birth outcomes, which are often attributed to alterations in placental morphology. This study used structural equation models (SEMs) to examine the impact of HIV and ART exposure on fetal growth outcomes and whether these associations are mediated by placental morphology in urban-dwelling Black South African women. METHODS: This prospective cohort study included pregnant women living with HIV (WLWH, n = 122) and not living with HIV (WNLWH, n = 250) that underwent repeated ultrasonography during pregnancy, and at delivery, to determine fetal growth parameters in Soweto, South Africa. The size and the velocity of fetal growth measures (i.e., head and abdominal circumference, biparietal diameter, and femur length) were calculated using the Superimposition by Translation and Rotation. Placenta digital photographs taken at delivery were used to estimate morphometric parameters and trimmed placental weight was measured. All WLWH were receiving ART for the prevention of vertical transmission of HIV. RESULTS: A trend towards a lower placental weight and significantly shorter umbilical cord length was reported in WLWH compared to their counterparts. After sex stratification, umbilical cord length was significantly shorter in males born to WLWH than in male fetuses born to WNLWH (27.3 (21.6-32.8) vs. 31.4 (25.0-37.0) cm, p = 0.015). In contrast, female fetuses born to WLWH had lower placental weight, birth weight (2.9 (2.3-3.1) vs. 3.0 (2.7-3.2) kg), and head circumference (33 (32-34) vs. 34 (33-35) cm) than their counterparts (all p ≤ 0.05). The SEM models showed an inverse association between HIV and head circumference size and velocity in female fetuses. In contrast, HIV and ART exposure was positively associated with femur length growth (both size and velocity) and abdominal circumference velocity in male fetuses. None of these associations appeared to be mediated via placental morphology. CONCLUSION: Our findings suggest that HIV and ART exposure directly affects head circumference growth in females and abdominal circumference velocity in male fetuses; but may improve femur length growth in male fetuses only.

Thoracic endovascular repair versus medical management for acute uncomplicated type B aortic dissection.

BACKGROUND: Current treatment options and outcomes for acute uncomplicated thoracic Type-B aortic dissection (TBAD) remain unclear between medical management (MED) and thoracic endovascular aortic repair (TEVAR). In this study we aim to compare both strategies in terms of all-cause mortality, aortic dilation, and aortic rupture. METHODS: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials were queried from January 1990 through March 2017. Only studies comparing TEVAR to MED for acute uncomplicated TBAD were included. Random-effects meta-analysis was used to pool outcomes across studies. Study outcomes included short (1 month), intermediate (1 year), and mid-term (2-5 year) all-cause mortality. Additional outcomes included aortic dilation and rupture at 1 year. RESULTS: A total of 1,960 patients (64.3 years; 75.8% male) were included from six studies (one prospective and five retrospective). No difference was observed in short-term (odd ratio [OR] 0.73 with 95% confidence interval [CI] 0.47 to 1.12, P = 0.15), intermediate (OR 0.99 with 95% CI 0.56 to 1.73, P = 0.96), or mid-term all-cause mortality (OR 1.12 with 95% CI 0.54 to 2.32, P = 0.75). No difference in aortic dilation with either modality was noted at 1-year (OR 1.11 with 95% CI 0.76 to 1.64, P = 0.59). TEVAR was associated with a significantly lower 1-year risk of aortic rupture (OR 2.49 with 95% CI 1.23 to 5.06, P = 0.01). CONCLUSION: There were no short, intermediate, or mid-term differences in mortality between TEVAR or MED in patients with acute uncomplicated TBAD. Although the dilation rate was similar between both groups, TEVAR was associated with lower likelihood of aortic rupture at 1 year.

Percutaneous thoracic aortic aneurysm repair through transcaval aortic access.

Transcaval aortic access has been used for deployment of transcatheter aortic valves in patients in whom conventional arterial approaches are not feasible. This access can be vital in other situation when large bore access is needed. We described a case of 65-year-old man who had large thoracic descending aortic aneurysm with diffuse bilateral iliac disease precluding the arterial access required for the procedure. The patient underwent successful transcaval access with placement of 22-Fr balloon expandable sheath followed with successful deployments of 32 mm × 32 mm × 150 mm Valiant stent graft (Medtronic, Minneapolis, MN). The aorto-vena cava tract was closed successfully using 12 × 10 PDA occluder device with no residual flow at the end of the case, which was confirmed on repeated CT next day.

The United States StuDy for EvalUating EndovasculaR TreAtments of Lesions in the Superficial Femoral Artery and Proximal Popliteal By usIng the Protégé EverfLex NitInol STent SYstem II (DURABILITY II).

OBJECTIVE: Angioplasty and stenting are options for revascularization of symptomatic femoral popliteal disease. Although angioplasty alone is effective in short lesions, longer lesions are often treated with stents. Multiple overlapping stents are expensive and may be associated with stent fracture. This trial evaluated the safety and efficacy of a single self-expanding stent up to 20 cm in length in patients with atherosclerotic disease of the superficial femoral artery (SFA) and proximal popliteal artery. METHODS: Patients with lesions >4 cm and <18 cm were enrolled in this nonrandomized, prospective, multicenter trial that evaluated the Protégé EverFlex Self-Expanding Peripheral Stent System (Covidien, Plymouth, Minn). The study's primary end points were the 30-day major adverse event rate and duplex ultrasound-assessed patency at 1 year. These were compared with published performance goals. A preplanned analysis was conducted for the primary effectiveness end points at 1 year. Follow-up, including history, ankle-brachial index, patient-reported outcomes, duplex ultrasound assessment, and radiographs, is planned through 3 years. There was core laboratory review of angiograms, ultrasound scans, and plain radiographs. A subgroup of patients was studied with graded treadmill testing. RESULTS: The study enrolled 287 patients (66% male; mean age, 68 years) with stenotic, restenotic, or occluded lesions of the SFA at 44 investigational sites in the United States and Europe. Systemic comorbidities included hypertension (88%), hyperlipidemia (86%), diabetes (43%), and prior SFA intervention (41%). The mean lesion length measured by the core laboratory was 89 mm. The mean normal-to-normal lesion length measured by sites was 110 mm. A total of 303 stents were implanted, and 95% of patients received a single stent. No major adverse events occurred at 30 days. At 1 year, primary outcome of duplex ultrasound stent patency was 67.7% in evaluable patients, and among 1-year secondary outcomes, the mean ankle-brachial index increased by 0.25. Walking Improvement Questionnaire scores improved in pain by 33.7, distance by 37.1, speed by 18.6, and stair climbing by 24.7. The Kaplan-Meier estimate of primary patency was 77.2%, primary assisted patency was 86.9%, and secondary patency was 87.3%. Rutherford clinical category improved in 83.5% of patients. Stent fracture rate was 0.4%. Matched absolute claudication distance was 412 feet greater and was not statistically different in this subgroup of 29 individuals. CONCLUSIONS: The results of DURABILITY II (StuDy for EvalUating EndovasculaR TreAtments of Lesions in the Superficial Femoral Artery and Proximal Popliteal By usIng the Protégé EverfLex NitInol Stent SYstem II) suggest that a new single stent strategy is safe and effective for the treatment of long lesions of the SFA and proximal popliteal arteries at 1 year.

Interactions between maternal health and placental morphology on neonate body composition.

Background: We aimed to examine maternal metabolic correlates of neonate body composition, and the potential mediating effect of the placenta. Methods: Data were collected throughout pregnancy and at delivery. An oral glucose tolerance test (OGTT) was conducted in order to diagnose or rule out gestational diabetes mellitus (GDM). Maternal weight and blood pressure were taken and hypertension and gestational weight gain (GWG) were defined. Gestational age, birth weight (BW) and weight to length ration (WLR) were recorded. Photographs were taken of the placenta, and the widths and lengths were measured digitally. Body composition was analysed via air displacement plethysmography or dual-energy x-ray absorptiometry. Mediation models were conducted to determine the mediation effect of the placental variables on the relationships between maternal health variables and neonate outcomes. Next, interaction terms were added to models to determine how maternal and placental variables interacted in their effect on neonate outcomes. Results: A total of n = 280 women were included in the analysis. Majority were overweight or obese. Fourteen percent of women developed GDM during pregnancy, 5% had hypertension during pregnancy, 32% were HIV positive, and 32% had anemia. For the birth weight outcome, coefficients of BMI were attenuated by the addition of placental variables (Model 1 ß=18.66 vs Model 2 ß=16.40). Similar patterns were evident for GWG and hypertension, and for the WLR outcome. In all cases the addition of the placental variables attenuated associations between maternal exposures and neonatal outcomes, yet the level of significance did not change. Inclusion of interaction terms reversed the direction of the relationships between hypertension and BW and WLR, and between GWG and WLR. Conclusion: The placenta buffers some harmful effects of obesity, GWG, and hypertension on neonate size, and placental efficiency interacted with most maternal risk factors to either counteract, or attenuate relationships with neonate size at birth. However the placenta was unable to completely counteract the negative effect of excess nutrient supply on in utero growth.

Surgical outcome and treatment trends in 1289 infants with micrognathia: a multicenter cohort.

BACKGROUND: Studies of infants with micrognathia, especially Robin Sequence (RS), are limited by its rarity and both phenotypic and diagnostic variability. Most knowledge of this condition is sourced from small, single-institution samples. METHODS: This is a cross-sectional study including infants with micrognathia admitted to 38 Children's Hospital Neonatal Consortium centers from 2010-2020. Predictor variables included demographic data, birth characteristics, cleft and syndrome status. Outcome variables included length of stay (LOS), death, feeding or respiratory support, and secondary airway operations. RESULTS: 1289 infants with micrognathia had a surgery to correct upper airway obstruction. Mean age and weight at operation were 34.8±1.8 weeks and 3515.4±42 grams, respectively. A syndromic diagnosis was made in 150 (11.6%) patients, with Stickler (5.4%) and Treacher Collins Syndromes (2.2%) most common. Operations included: mandibular distraction osteogenesis (MDO), 66.3%; tracheostomy, 25.4%; and tongue-lip adhesion (TLA), 8.3%. Tracheostomy patients had a lower birth weight, head circumference, gestational age, and APGAR scores. MDO patients were less likely to need a second airway operation compared to TLA patients (3.5%vs17.8%,p<0.001). The proportion of infants feeding exclusively orally at hospital discharge differed significantly, from most to least: MDO, TLA, tracheostomy. Hospital LOS was not statistically different for patients that had MDO and TLA, but was longer for those with primary tracheostomy. Mortality was low for all operations (0.5%). CONCLUSION: In this 1289 surgical patient cohort, MDO was associated with shorter hospital stay, improved oral feeding, and lower rates of secondary airway operations. Prospective multi-center studies are necessary to support these conclusions.

Intrathecal Fentanyl With a Myofascial Plane Block in Open Lumbar Surgeries: A Case Series.

BACKGROUND: Acute postoperative pain control after lumbar surgery is imperative to minimizing long-term narcotic use and associated adverse sequela. The safety of intrathecal morphine for postoperative pain management in spine surgery has been investigated; however, to date, no studies have investigated the safety of intrathecal fentanyl with a myofascial plane (MP) block in lumbar procedures. OBJECTIVE: To assess the safety profile of intrathecal fentanyl with a MP block administered during lumbar surgery and the subsequent utilization of postoperative intravenous opioids. METHODS: An intraoperative intrathecal injection of fentanyl and a MP block was administered in 40 patients undergoing open lumbar reconstructive surgery. The procedure performed was an open decompression with lumbar total joint reconstruction at 1 to 3 lumbar levels. Postoperative complications including urinary retention, respiratory depression, and need for IV opioid use were recorded. RESULTS: Postoperatively, none of the study patients required IV opioid medication for supplemental pain control. Thirty-six patients (85%) were discharged same day or before 23 hours postoperatively. No intrathecal fentanyl-related perioperative complications were noted. None of the 40 listed patients experienced urinary retention or delayed respiratory depression. One patient (2%) experienced orthostatic hypotension at postoperative day 1, which resolved on discontinuation of oral oxycodone. CONCLUSION: Intrathecal fentanyl and MP block may be a safe option for perioperative pain control and may reduce the need for supplemental intravenous opioids without increased risk of respiratory depression, urinary retention, or other side effects. Further studies are necessary to compare the efficacy of intrathecal fentanyl with other analgesia techniques.

Relationships between adiposity distribution and metabolic health in preconception women in South Africa.

Objective: Adipose tissue is a central regulator of metabolic health and a contributor to systemic inflammation. Patterns of adiposity deposition are important to understand for optimizing health. This study aimed to asses relationships between adiposity deposition and metabolic and inflammatory biomarkers in South African women prior to conception. Methods: Non-pregnant, healthy women (n = 298) were recruited for this cross-sectional study via home visits. Body composition was measured by Dual X-ray Absorptiometry. Inflammation markers C-reactive protein (CRP), alpha1-acid glycoprotein (AGP), hemoglobin A1c (HbA1c), and blood pressure were scored according to risk. A summative metabolic health risk score was created for women with obesity. Generalized regression models assessed relationships between adiposity deposition and outcomes with adjustment for potential confounders. Results: Obesity was present in 22% of women (mean age = 20.93 years). Fat mass index was associated with inflammation and metabolic health risk (ß = 0.58; p < 0.01). Visceral fat, trunk:limb ratio, android:gynoid ratio, body mass index, weight, and waist circumference were positively associated with CRP, AGP, and metabolic health risk (p < 0.01). Weight was associated with Hba1c (ß < 0.01; p < 0.05). Participants with obesity and low metabolic health risk had lower fat mass index and visceral fat than participants with obesity and higher metabolic health risk. Conclusions: Black South African women accumulated excess adipose tissue in abdominal regions. While fat mass and body mass were associated with inflammation and metabolic health risk, women with obesity and with lower fat mass index and lower visceral adipose tissue were metabolically protected. Identification of women at risk for metabolic disease preconception could help ensure future healthy pregnancies and prevent transference of risk to offspring.

Radiation Exposure in Posterior Lumbar Fusion: A Comparison of CT Image-Guided Navigation, Robotic Assistance, and Intraoperative Fluoroscopy.

STUDY DESIGN: Retrospective clinical review. OBJECTIVE: To assess the use of intraoperative computed tomography (CT) image-guided navigation (IGN) and robotic assistance in posterior lumbar surgery and their relationship with patient radiation exposure and perioperative outcomes. METHODS: Patients ≥18 years old undergoing 1- to 2-level transforaminal lateral interbody fusion in 12-month period were included. Chart review was performed for pre- and intraoperative data on radiation dose and perioperative outcomes. All radiation doses are quantified in milliGrays (mGy). Univariate analysis and multivariate logistic regression analysis were utilized for categorical variables. One-way analysis of variance with post hoc Tukey test was used for continuous variables. RESULTS: A total of 165 patients were assessed: 12 IGN, 62 robotic, 56 open, 35 fluoroscopically guided minimally invasive surgery (MIS). There was a lower proportion of women in open and MIS groups (P = .010). There were more younger patients in the MIS group (P < .001). MIS group had the lowest mean posterior levels fused (P = .015). Total-procedure radiation, total-procedure radiation/level fused, and intraoperative radiation was the lowest in the open group and highest in the MIS group compared with IGN and robotic groups (all P < .001). Higher proportion of robotic and lower proportion of MIS patients had preoperative CT (P < .001). Estimated blood loss (P = .002) and hospital length of stay (P = .039) were lowest in the MIS group. Highest operative time was observed for IGN patients (P < .001). No differences were observed in body mass index, Charlson Comorbidity Index, and postoperative complications (P = .313, .051, and .644, respectively). CONCLUSION: IGN and robotic assistance in posterior lumbar fusion were associated with higher intraoperative and total-procedure radiation exposure than open cases without IGN/robotics, but significantly less than MIS without IGN/robotics, without differences in perioperative outcomes. Fluoro-MIS procedures reported highest radiation exposure to patient, and of equal concern is that the proportion of total radiation dose also applied to the surgeon and operating room staff in fluoro-MIS group is higher than in IGN/robotics and open groups.

Robotic Spine Surgery Where Did We Come From, And Where Are We Headed?

Robotic spine surgery has a number of potential advantages, including more precise preoperative planning, a high degree of accuracy in pedicle screw placement, and significantly reduced radiation exposure to the surgical team. Despite the potential advantages, many surgeons feel that it is still too early for the widespread adoption of this technology, citing increased cost, increased operating room time, and lack of necessity. Most spine surgeons will agree, however, that robotic technology is still in its infancy and that there will be a significant role for this technology in the future. Amidst this debate, it is important to understand the evolution of this technology from its initial inception to the present day, with a critical appraisal of the technology in its current form. It is important to consider the probable next steps in the development of this technology so that we may develop and shape this technology to most benefit our patients. This article reviews the history and development of robotic technology in spine surgery, critically assesses the technology in its current form, and explores the future directions.

Efficacy of intraoperative cell salvage in spine surgery: a meta-analysis.

OBJECTIVE: Intraoperative cell salvage systems, or cell savers, are widely used for the management of blood loss in patients undergoing spine surgery. However, recent studies report conflicting evidence of their efficacy. The purpose of the meta-analysis was to investigate the efficacy of cell savers in reducing blood transfusion requirements in patients undergoing spine surgery. METHODS: Both retrospective and prospective studies that investigated the efficacy of cell savers in reducing transfusion requirements in spine surgery patients when compared with control patients were identified from MEDLINE, Embase, Cochrane Collaboration Library, Google Scholar, and Scopus databases. Outcome data extracted included number of patients receiving allogenic transfusions (transfusion rate); units of allogenic transfusions; postoperative hemoglobin; costs; operative time; and complications. RevMan 5 software was used to perform statistical analyses. A random-effects model was used to calculate pooled odds ratios (with 95% CIs) and weighted mean differences (WMDs [95% CI]) for dichotomous and continuous variables, respectively. RESULTS: Eighteen studies with 2815 patients in total were included in the meta-analysis. During spine surgery, the use of intraoperative cell salvage did not reduce the intraoperative (OR 0.66 [95% CI 0.30, 1.41]), postoperative (OR -0.57 [95% CI 0.20, 1.59]), or total transfusion (OR 0.92 [95% CI 0.43, 1.98]) rate. There was a reduction in the number of allogenic units transfused intraoperatively by a mean of 0.81 (95% CI -1.15, -0.48). However, there were no differences in the number of units transfused postoperatively (WMD -0.02 [95% CI -0.41, 0.38]) or the total units transfused (WMD 0.08 [95% CI -1.06, 1.22]). There were also no differences in operative time (WMD 19.36 [95% CI -2.43, 42.15]) or complications reported (OR 0.79 [95% CI 0.46, 1.37]) between groups. A difference in postoperative hemoglobin (WMD 0.54 [95% CI 0.11, 0.98]) between both groups was observed. CONCLUSIONS: Cell saver is efficacious at reducing intraoperative allogenic units transfused. There is no difference in transfusion rates, postoperative units transfused, and the total number of units transfused. Further cost analysis studies are necessary to evaluate the cost-effectiveness of this method of blood conservation.■ CLASSIFICATION OF EVIDENCE Type of question: therapeutic; study design: meta-analysis; strength of recommendation: low.

Echocardiographic Derived Parameters Association With Long-Term Outcomes After Transcatheter Valve Replacement.

BACKGROUND: Transaortic flow, maximum velocity (V max), mean gradient (MG), left ventricular ejection fraction (LVEF), Aortic valve area (AVA) and dimensional index (DI) are important determinants of prognosis in patients with severe aortic stenosis. The specific role of these echocardiography-derived values in predicting prognosis of severe aortic stenosis patients undergoing Transcatheter aortic valve replacement (TAVR) is less defined. METHODS: We identified all severe AS patients who underwent TAVR between 01/2012 and 6/2016. Baseline characteristics, clinical, procedural and one year follow-up data were obtained. Hierarchical logistic regression was used to assess predictors of 1-year mortality after TAVR. Normal flow (NF) was defined as having stroke volume index (SVI) of ≥35 ml/m2; while low Flow (LF) was defined as SVI < 35 ml/m2. High gradient (HG) was defined as mean gradient of ≥40 mmHg; while low gradient (LG) was defined as <40 mmHg. RESULTS: A total of 399 patients were analyzed. There were no significant differences in baseline characteristics. LVEF less than 35% was associated with higher rate of 1-year mortality (17.6% LVEF <35% vs. 8.9% LVEF≥35%; RR = 2.19; CI 1.05 to 4.54; P = 0.03). There was no difference in 1-year mortality outcomes after TAVR in relation to: Mean Gradient MG, transaortic flow/Stroke Volume Index SVI, DI, V max or AVA. CONCLUSION: Low LVEF <35% remains the strongest parameter associated with 1 year mortality after TAVR.

Percutaneous approaches for retrieval of an embolized or malpositioned left atrial appendage closure device: A multicenter experience.

BACKGROUND: Experience with retrieval of a Watchman left atrial (LA) appendage (LAA) closure device (WD) is limited. An embolized or grossly malpositioned WD warrants retrieval to minimize the risk of thromboembolic complications and vascular occlusion. OBJECTIVE: The purpose of this study was to report approaches for percutaneous retrieval of a WD from multicenter experience. METHODS: Data on successful WD retrievals were obtained from high-volume operators. Data included clinical characteristics; structural characteristics of the LA and LAA; and procedural details of the deployment and retrieval procedure, type of retrieval (immediate: during the same procedure; delayed: during a separate procedure after the successful deployment), equipment used, complications, and postretrieval management. RESULTS: Ten successful percutaneous and 1 surgical retrievals comprised this study. Seven patients had immediate retrieval, while 4 had delayed retrieval. The median duration before delayed retrieval was 45 days (range 1-45 days). The median LAA diameter and size of a successfully deployed WD was 16 mm (range 14-24 mm) and 21 mm (range 21-30 mm), respectively. A WD was retrieved from the LA (n = 1), LAA (n = 2), left ventricle (n = 2), and aorta (n = 6). The reason for retrieval from the LAA was inadequate deployment, resulting in a significant peri-device leak. Retrieval from the LA or LAA was successfully performed using snares (n = 2) and a Raptor grasping device (n = 1). Retrieval from the left ventricle was achieved with a snare (n = 1) and surgery (n = 1). Retrieval from the aorta required snares (n = 5) and retrieval forceps (n = 1). Five patients were successfully reimplanted with a larger size WD. The only complication during percutaneous retrieval was a pseudoaneurysm. CONCLUSION: Retrieval of an embolized or malpositioned WD is feasible, and familiarity with snares and grasping tools can facilitate a successful removal.

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.

OBJECTIVE: The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features. MATERIALS AND METHODS: PheRS utilizes Mendelian diseases descriptions annotated with Human Phenotype Ontology (HPO) terms. In previous work, we presented a map linking phecodes (based on International Classification of Diseases [ICD]-Ninth Revision) to HPO terms. For this study, we integrated ICD-Tenth Revision codes and lab data. We also created a new map between HPO terms using customized groupings of ICD codes. We compared the performance with cases and controls for 16 Mendelian diseases using 2.5 million de-identified medical records. RESULTS: PheRS effectively distinguished cases from controls for all 15 positive controls and all approaches tested (P < 4 × 1016). Adding lab data led to a statistically significant improvement for 4 of 14 diseases. The custom ICD groupings improved specificity, leading to an average 8% increase for precision at 100 (-2% to 22%). Eight of 10 adults with cystic fibrosis tested had PheRS in the 95th percentile prio to diagnosis. DISCUSSION: Both phecodes and custom ICD groupings were able to detect differences between affected cases and controls at the population level. The ICD map showed better precision for the highest scoring individuals. Adding lab data improved performance at detecting population-level differences. CONCLUSIONS: PheRS is a scalable method to study Mendelian disease at the population level using electronic health record data and can potentially be used to find patients with undiagnosed Mendelian disease.

Association Between Nonmodifiable Demographic Factors and Patient Satisfaction Scores in Spine Surgery Clinics.

The Press Ganey survey is the most widely used instrument for measuring patient satisfaction. Understanding the factors that influence these surveys may permit better use of survey results and may direct interventions to increase patient satisfaction. Press Ganey Clinician and Group Consumer Assessment of Healthcare Providers and Systems surveys administered to ambulatory spine surgery clinic patients within a large tertiary care network from May 2016 to September 2017 were retrospectively reviewed. Mean comparison testing was performed to measure associations between patient demographics and responses to "overall provider rating" and "recommend this provider's office" survey questions. Mean difference to achieve significance was set at α<0.05. A multivariate analysis was performed to determine independent factors. A total of 1400 survey responses from the offices of 11 orthopedic spine surgeons were included. Patients 18 to 34 years old had significantly lower responses to the overall provider rating question than older patients (P<.001), and increasing patient age was correlated with improved ratings. Highest education level was inversely correlated with satisfaction scores, with patients who had attained graduate level education having the lowest satisfaction scores (P=.001). Those with commercial insurance had significantly lower ratings for recommend this provider's office (P=.042) and overall provider rating (P=.022) questions than those with other insurance types. Patients administered the survey on paper had significantly lower ratings than those administered the survey online (P=.006). Provider ratings were significantly higher when the sex and ethnicity of the patient were concordant with the provider (P=.021). This study showed that independent, nonmodifiable factors such as age, education level, and survey mode were significantly associated with the satisfaction of ambulatory spine surgery clinic patients. [Orthopedics. 2019; 42(3):143-148.].

Preoperative Assessment of Bone Quality in Spine Deformity Surgery: Correlation With Clinical Practice and Published Recommendations.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: The goals of this study were to (A) evaluate preoperative bone quality assessment and intervention practice over time and (B) review the current evidence for bone evaluation in spine fusion surgery. SUMMARY OF BACKGROUND DATA: Deformity spine surgery has demonstrated improved quality of life in patients; however, its cost has made it controversial. If preoperative bone quality can be optimized then potentially these treatments could be more durable; however, at present, no clinical practice guidelines have been published by professional spine surgical organizations. METHODS: A retrospective cohort review was performed on patients who underwent a minimum five-level primary or revision fusion. Preoperative bone quality metrics were evaluated over time from 2012 to 2017 to find potential trends. Subgroup analysis was conducted based on age, sex, preoperative diagnosis, and spine fusion region. RESULTS: Patient characteristics including preoperative rates of pseudarthrosis and junctional failure did not change. An increasing trend of physician bone health documentation was noted (P = 0.045) but changes in other metrics were not significant. A sex bias favored females who had higher rates of preoperative DXA studies (P = 0.001), Vitamin D 25-OH serum labs (P = 0.005), Vitamin D supplementation (P = 0.022), calcium supplementation (P < 0.001), antiresorptive therapy (P = 0.016), and surgeon clinical documentation of bone health (P = 0.008) compared with men. CONCLUSION: Our spine surgeons have increased documentation of bone health discussions but this has not affected bone quality interventions. A discrepancy exists favoring females over males in nearly all preoperative bone quality assessment metrics. Preoperative vitamin D level and BMD assessment should be considered in patients undergoing long fusion constructs; however, the data for bone anabolic and resorptive agents have less support. Clinical practice guidelines on preoperative bone quality assessment spine patients should be defined. LEVEL OF EVIDENCE: 4.

Alcoholism as a predictor for pseudarthrosis in primary spine fusion: An analysis of risk factors and 30-day outcomes for 52,402 patients from 2005 to 2013.

INTRODUCTION: This study assessed the incidence and risk factors for pseudarthrosis among primary spine fusion patients. METHODS: Retrospective review of ACS-NSQIP (2005-2013). Differences in comorbidities between spine fusion patients with and without pseudarthrosis (Pseud, N-Pseud) were assessed using chi-squared tests and Independent Samples t-tests. Binary logistic regression assessed patient-related and procedure-related predictors for pseudarthrosis. RESULTS: 52,402 patients (57yrs, 53%F, 0.4% w/pseudarthrosis). Alcohol consumption (OR:2.6[1.2-5.7]) and prior history of surgical revision (OR:1.6[1.4-1.8]) were risk factors for pseudarthrosis operation. Pseud patients at higher risk for deep incisional SSI (at 30-days:OR:6.6[2.0-21.8]). Pseud patients had more perioperative complications (avg:0.24 ±â€¯0.43v0.18 ±â€¯0.39,p=0.026). CONCLUSIONS: Alcoholism and surgical revision are major risk factors for pseudarthrosis in patients undergoing spine fusion.

Minimally Invasive versus Open Spine Surgery: What Does the Best Evidence Tell Us?

BACKGROUND: Spine surgery has been transformed significantly by the growth of minimally invasive surgery (MIS) procedures. Easily marketable to patients as less invasive with smaller incisions, MIS is often perceived as superior to traditional open spine surgery. The highest quality evidence comparing MIS with open spine surgery was examined. METHODS: A systematic review of randomized controlled trials (RCTs) involving MIS versus open spine surgery was performed using the Entrez gateway of the PubMed database for articles published in English up to December 28, 2015. RCTs and systematic reviews of RCTs of MIS versus open spine surgery were evaluated for three particular entities: Cervical disc herniation, lumbar disc herniation, and posterior lumbar fusion. RESULTS: A total of 17 RCTs were identified, along with six systematic reviews. For cervical disc herniation, MIS provided no difference in overall function, arm pain relief, or long-term neck pain. In lumbar disc herniation, MIS was inferior in providing leg/low back pain relief, rehospitalization rates, quality of life improvement, and exposed the surgeon to >10 times more radiation in return for shorter hospital stay and less surgical site infection. In posterior lumbar fusion, MIS transforaminal lumbar interbody fusion (TLIF) had significantly reduced 2-year societal cost, fewer medical complications, reduced time to return to work, and improved short-term Oswestry Disability Index scores at the cost of higher revision rates, higher readmission rates, and more than twice the amount of intraoperative fluoroscopy. CONCLUSION: The highest levels of evidence do not support MIS over open surgery for cervical or lumbar disc herniation. However, MIS TLIF demonstrates advantages along with higher revision/readmission rates. Regardless of patient indication, MIS exposes the surgeon to significantly more radiation; it is unclear how this impacts patients. These results should optimize informed decision-making regarding MIS versus open spine surgery, particularly in the current advertising climate greatly favoring MIS.

Successful percutaneous retrieval of embolized transcatheter left atrial appendage closure device (Watchman) using a modified vascular retrieval forceps.

Transcatheter closure of the left atrial appendage (LAA) is increasingly considered as an alternative to oral anticoagulation in patients with previous major bleeding or at high-risk of bleeding. Device embolization with transcatheter LAA closure is a rare complication. Most cases are asymptomatic, but it can be life threatening. Depending on the location of embolization, percutaneous retrieval is feasible. Snares are usually used for retrieval, but other devices may be used. We report the case of a 63-year gentleman who underwent an uneventful LAA closure with Watchman device and routine testing next day showed embolization to the abdominal aorta. Retrieval was performed using a modified Cook vascular retrieval forceps.