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Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a "real-world" setting. Untreated low-density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL; P =0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.

Objective: In March 2018, the American Association of Directors of Psychiatric Residency Training (AADPRT) formed the Diversity and Inclusion (D&I) Committee. One of the committee's goals was to understand the AADPRT membership's composition and their perceptions of D&I. This study's objective was to identify the demographic characteristics of the AADPRT membership., Methods: Program directors were invited by email to participate in an anonymous survey. The survey collected participants' demographic information including gender, race/ethnicity, training background, age, disability/differently abled status, job role, geographic region where their program is located, type of program, and their program's community setting., Results: Two hundred fifty six of 657 AADPRT members (39%) completed the survey. Respondents were mostly White (64.5%) followed by Asian/Southeast Asian (17.6%), Hispanic/Latinx (4.3%), and Black (1.6%). Only 13.3% of the participants were international medical graduates. Women were more prevalent (61.7%) than men (37.5%), and 9.4% self-identified as members of the LGBTQ+ Community., Conclusions: This study represents the first systematic investigation into the diversity among psychiatry program directors throughout the USA and Canada. Future qualitative studies are needed to better understand the reasons behind this initial study's findings. Potential concerns requiring exploration include the possibility of the program director role serving as a "glass ceiling" for some women and a "leaky pipeline" in academia for groups underrepresented in medicine.

Objectives: Training in child and adolescent psychotherapy continues to be emphasized by accrediting organizations (ACGME and ABPN) but it is not known how these skills are taught and what types of therapy are highlighted in fellowships across the United States., Methods: A 16-question anonymous online survey was developed by the authors and covered six main areas: demographics, the priority of psychotherapy in training, the competency goals for different psychotherapy modalities, training strategies, types of supervision, and program directors' satisfaction of their training implementation and assessment of trainees. The survey was sent to every identified CAP program director during a three-month period in early 2017., Results: Data was gathered from 53 of the 131 program directors surveyed, giving a 40% response rate. Ninety percent of CAP program directors strongly agree or agree that it is important to preserve and promote training and practice of psychotherapy. Most (83%) program directors indicated competence or expertise as a training goal for CBT with more variability among programs for other psychotherapies. Seventy percent of program directors agree that their program provides adequate time for learning and practicing psychotherapy but the allotted time for psychotherapy is low across majority of programs over both years of training., Conclusions: These results indicate that there is a gap between the goals of providing optimal training in psychotherapy with the low amount of protected time for the practice of psychotherapy. These results should provide a foundation for program directors to learn from each other about developing, improving, and implementing effective psychotherapy training.

Objective: To identify heritable symptom-based subtypes of Tourette syndrome (TS)., Methods: Forty-nine motor and phonic tics were examined in 3,494 individuals (1,191 TS probands and 2,303 first-degree relatives). Item-level exploratory factor and latent class analyses (LCA) were used to identify tic-based subtypes. Heritabilities of the subtypes were estimated, and associations with clinical characteristics were examined., Results: A 6-factor exploratory factor analysis model provided the best fit, which paralleled the somatotopic representation of the basal ganglia, distinguished simple from complex tics, and separated out socially disinhibited and compulsive tics. The 5-class LCA model best distinguished among the following groups: unaffected, simple tics, intermediate tics without social disinhibition, intermediate with social disinhibition, and high rates of all tic types. Across models, a phenotype characterized by high rates of social disinhibition emerged. This phenotype was associated with increased odds of comorbid psychiatric disorders, in particular, obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, earlier age at TS onset, and increased tic severity. The heritability estimate for this phenotype based on the LCA was 0.53 (SE 0.08, p 1.7 × 10(-18))., Conclusions: Expanding on previous modeling approaches, a series of TS-related phenotypes, including one characterized by high rates of social disinhibition, were identified. These phenotypes were highly heritable and may reflect underlying biological networks more accurately than traditional diagnoses, thus potentially aiding future genetic, imaging, and treatment studies., (© 2016 American Academy of Neurology.)

Background: Pulmonary resections using cardiopulmonary bypass (CPB) are infrequently performed. Their short-term outcomes are not well described. We queried the National Inpatient Sample over a 10-year period (2001 to 2011) to more clearly delineate the short-term outcomes of patients undergoing pulmonary resections on CPB., Methods: We identified all patients 18 years and older who underwent pulmonary lobectomy (LB) or pneumonectomy (PN) on CPB; lung transplantations were excluded. We then grouped these patients based on the setting in which bypass was used: LB/PN with planned CPB (group 1), LB/PN with concomitant on-pump cardiac procedure (group 2), or LB/PN requiring CPB secondary to injury (group 3). Demographic data and inhospital outcomes were obtained for each patient., Results: In all, 843 patients underwent LB or PN on CPB during the study period. Lobectomies were the most commonly performed procedure overall. Inhospital mortality for groups 1, 2, and 3 were 22% (n = 58), 16% (n = 61), and 57% (n = 115), respectively. Complications were prevalent across all groups. Routine discharge was achieved by fewer than half of all patients: 48% of group 1 (n = 128); 34% of group 2 (n = 129); and 18% of group 3 (n = 36). Pneumonectomy (odds ratio 2.74, 95% confidence interval: 1.00 to 7.53, p = 0.049) as well as using CPB either as part of a combined cardiac surgery (odds ratio 1.48, 95% confidence interval: 0.39 to 5.59, p = 0.002) or because of injury (odds ratio 6.52, 95% confidence interval: 2.13 to 19.99, p = 0.002) were found to be significant multivariate predictors of short-term mortality., Conclusions: Pulmonary resections on CPB carry considerable short-term mortality and morbidity, but some risk can be partially mitigated when bypass is planned preoperatively., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Obesity is a growing epidemic in the developed world. However, little is known about the impact of obesity on the perioperative morbidity and mortality after lung resection., Patients and Methods: We analyzed the American College of Surgeons National Surgical Quality Improvement Program database from 2005 to 2010 to determine whether obesity is a risk factor for perioperative morbidity and mortality after pulmonary resection. Demographic, clinical, intraoperative, and morbidity and mortality data were collected. Multivariable predictors of morbidity and mortality were determined using regression analysis., Results: A total of 5,216 lung resections were identified (1,372 wedges, 3,713 lobectomies, and 131 pneumonectomies). The median age was 66 years and 2,587 (49.6%) were females. The body mass index (BMI, kg/m(2)) of the patients was as follows: 192 (3.7%) < 18.5; 1,727 (33.1%) 18.5 to 24.9; 1,754 (33.6%) 25 to 29.9; and 1,488 (28.5%) > 30. In-hospital mortality and all-cause morbidity was 2.4% (n = 127) and 14.5% (n = 757) for the entire cohort of patients, respectively. BMI was not found to be a predictor of increased mortality or morbidity, even in the morbidly obese (BMI > 35). Rather, age, approach (video-assisted thoracoscopic surgery vs. open), parameters assessing performance status, operative time, and preoperative radiation therapy were the predictors of morbidity and mortality. Conversely, being overweight (BMI 25-30) approached significance as a multivariate predictor for decreased pulmonary complications (odds ratio, 0.77 [0.592-1.004]; p = 0.054) consistent with the "obesity paradox" observed after nonbariatric general surgery., Conclusion: Our large national study shows that obesity does not negatively impact perioperative mortality and morbidity in patients undergoing lung resection. Surgical resections should not be denied to obese (BMI > 30) patients., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: Pulmonary resection for hemoptysis carries an increased risk of death. However, the extent and predictors of risk are poorly characterized and based on institutional case series. We analyzed the Nationwide Inpatient Sample (NIS) database to determine the outcome of patients undergoing anatomic pulmonary resection who were admitted with a diagnosis of hemoptysis., Methods: We queried the NIS for hospitalized patients who were admitted emergently or urgently with hemoptysis as the principal diagnosis or as a secondary or tertiary diagnosis. We examined the outcomes of those patients who underwent lobectomy or pneumonectomy. Logistic regression analysis was used to determine clinical characteristics that were independent risk factors for death., Results: During a 10-year period, 457,523 admissions for the diagnosis of hemoptysis were identified, and 2,671 patients (0.58%) underwent resection, comprising lobectomy in 2,205 and pneumonectomy in 466. The median age was 58 years, and 1,682 (63%) were men. Compared with those patients resected without a diagnosis of hemoptysis, those admitted with a hemoptysis diagnosis had a higher mortality rate after pneumonectomy (15.2% vs 9.7 %, p = 0.320) and lobectomy (6.6% vs 3.0%, p = 0.006). Advanced age, associated bacterial infections, the presence of a lung abscess/necrosis, extent of resection, and associated diagnoses of sarcoidosis and renal failure were multivariable independent risk factors for death., Conclusions: Analysis of this national database with its inherent limitations demonstrates that major lung resection can be performed in the setting of hemoptysis with reasonable mortality rate. Advanced age, extent of resection, systemic illnesses such as renal failure, sarcoidosis, and the presence of a lung abscess are independent predictors of death., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Objectives: We examined the Nationwide Inpatient Sample (NIS) database to compare short-term postoperative outcomes following open and thoracoscopic lobectomy. Thoracoscopic (video-assisted thoracic surgery) lobectomy has been demonstrated to be associated with fewer postoperative complications compared with open thoracotomy lobectomy in several large case series. However, as no randomized trial has been performed, there are many who question this., Methods: We examined the NIS database for all patients undergoing lobectomy as their principal procedure either via thoracoscopic or open thoracotomy from 2007 to 08. We compared the postoperative outcomes of these two groups of patients after propensity matching these groups based on several preoperative variables., Results: Over a 2-year-period, 68 350 patients underwent a lobectomy by either thoracoscopy [n = 10 554 (15%)] or thoracotomy [n = 57 796(85%)]. Thirty-two percent of thoracoscopic lobectomies (n = 3421) were performed in either rural or non-teaching urban centres. Although in propensity-matched cohorts there was no difference in operative mortality, thoracoscopic lobectomy was associated with a lower incidence of postoperative complications [n = 4146 (40.8%) vs n = 13 913 (45.1%), P < 0.001] and shorter length of stay (5.0 vs 7.0 days; P < 0.001) compared with open lobectomy. Specifically, the incidences of supraventricular arrhythmias, myocardial infarction, pulmonary embolism and empyema were lower., Conclusions: This large national database study demonstrates that thoracoscopic lobectomy is associated with fewer in-hospital postoperative complications compared with open lobectomy. Thoracoscopic lobectomy appears to be applicable to the wider general thoracic surgical community.

Objective: To determine the comparative effectiveness of various approaches to diaphragmatic hernia (DH) repair, including open abdominal, laparoscopic abdominal, and thoracotomy., Design, Setting, and Patients: Using the Nationwide Inpatient Sample from 1999 to 2008, a comprehensive cohort of 38 764 patients (mean [SD] age, 60.8 [19.5] years) hospitalized with a primary diagnosis of DH who underwent repair was identified., Main Outcomes Measures: Morbidity and mortality of patients who underwent DH repair., Results: Open approaches were the most common, performed in 91% of patients (open abdominal, n=28 824 [74.4%]; thoracotomy, n=6573 [17.0%]). Hospital mortality was 1.1% or less for each of the approaches. However, patients who underwent a laparoscopic DH repair had a shorter length of stay (mean [SD], 4.5 [0.10] days) and fewer discharges to skilled nursing facilities than those who underwent open abdominal or thoracotomy repair approaches. Patients who underwent a DH repair through a thoracotomy approach had the longest length of stay (mean [SD], 7.8 [0.11] days) and a higher need for postoperative mechanical ventilation than those undergoing open or laparoscopic abdominal approaches (5.6% vs 3.2% vs 2.3%, respectively; P.001). In addition, the thoracotomy approach was found to be an independent predictor for the development of a pulmonary embolism., Conclusions: This large national study demonstrates that most DH repairs are performed through open abdominal and thoracic approaches. Laparoscopic approaches are associated with decreased length of stay and more routine discharges than open abdominal and thoracotomy approaches.

Objective: Current practice is to repair uncomplicated diaphragmatic hernias (UDHs) to avoid complications such as obstruction or gangrene. However, practice patterns are based on limited data. We analyzed the National Inpatient Sample to compare outcomes of patients with obstructed (ODH) or gangrenous (GDH) diaphragmatic hernias and those who underwent repair of UDHs to perform a risk-benefit analysis of observation versus elective repair., Patients and Methods: We queried the National Inpatient Sample for hospitalized patients who underwent a UDH repair as the principal procedure during their admission. To this repair group, we compared the outcomes of those patients who had a diagnosis of GDH or ODH. A risk-benefit analysis of observation versus elective repair was performed based on these data., Results: Over a 10-year period, 193,554 admissions for the diagnosis of diaphragmatic hernia were identified. A UDH was the diagnosis in 161,777 (83.6%) admissions with 38,764 (24.0%) admissions for elective repair. ODH or GDH was the reason for admission in 31,127 (16.1%) and 651 (0.3%), respectively. Compared with patients who underwent elective repair, mortality was higher in patients with ODH or GDH (1% vs 4.5%; P < .001; and 1% vs 27.5%; P < .001). Risk-benefit analysis suggested a small but real benefit to elective repair in patients aged 50 to 70 years or if the operative mortality is 1% or less., Conclusions: Elective UDH repair is associated with better outcomes than admissions for ODH or GDH with a favorable risk-benefit profile than observation if the operative mortality is low., (Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.)