User Perspectives and Psychophysiological Manifestations of Fatigue with Trunk Orthosis for Dystrophinopathy Patients.

The chair-mounted passive trunk orthosis (CMPTO) is designed to enhance wheelchair safety for individuals with dystrophinopathy during their daily activities. Given the disease's progressive nature, it is crucial to ensure that assistive devices are carefully evaluated to prevent overexertion. This study aims to assess the CMPTO's user experience and its impact on fatigue-related psychophysiological measurements. We conducted electromyography (EMG) evaluations of four trunk muscles and assessed perceived exertion using the Borg CR-10 scale in 40 healthy subjects while they performed seated maximal reaching tasks with the CMPTO. Additionally, fifteen dystrophinopathy patients evaluated the CMPTO for usability with the System Usability Scale. Paired t-tests were employed to compare the median frequency (MDF) of EMG signals, the Wilcoxon signed-rank test for evaluating exertion, and the Mann-Whitney U test to compare the usability reported by patients to those of healthy subjects. The 4-way ANOVA revealed that MDF patterns were significantly influenced by task orientation for each muscle. The CMPTO did not cause a significant reduction in the MDF. Tasks requiring greater trunk rotation were perceived as more exhaustive. Patients reported acceptable usability with the CMPTO, with scores higher than those of healthy subjects. The CMPTO's usability was comprehensively evaluated in both healthy subjects and patients with dystrophinopathy. Our findings indicate that the CMPTO can be safely used by individuals with dystrophinopathy as an assistive device to improve seated comfort and functional abilities.

Achievement of LDL-C <55 mg/dL among US adults: Findings from the cvMOBIUS2 registry.

BACKGROUND: Reflecting clinical trial data showing improved outcomes with lower LDL-C levels, guidelines across the globe are increasingly recommending a goal of LDL-C <55 mg/dL in persons with atherosclerotic cardiovascular disease (ASCVD). What proportion of patients with ASCVD are already meeting those goals in the US remains understudied. METHODS: Using electronic health record data from 8 large US health systems, we evaluated lipid-lowering therapy (LLT), LDL-C levels, and factors associated with an LDL-C <55 mg/dL in persons with ASCVD treated between 1/1/2021-12/31/2021. Multivariable modeling was used to evaluate factors associated with achievement of an LDL-C <55 mg/dL. RESULTS: Among 167,899 eligible patients, 22.6% (38,016) had an LDL-C <55 mg/dL. While 76.1% of individuals overall were on a statin, only 38.2% were on a high-intensity statin, 5.9% were on ezetimibe, and 1.7% were on a PCSK9i monoclonal antibody (mAb). Factors associated with lower likelihood of achieving an LDL-C <55 mg/dL included: younger age (odds ratio [OR] 0.91 per 10y), female sex (OR 0.69), Black race (OR 0.76), and noncoronary artery disease forms of ASCVD including peripheral artery disease (OR 0.72) and cerebrovascular disease (OR 0.85), while high-intensity statin use was associated with increased odds of LDL-C <55 mg/dL (OR 1.55). Combination therapy (statin+ezetimibe or statin+PCSK9i mAb) was rare (4.4% and 0.5%, respectively) and was associated with higher odds of an LDL-C <55 mg/dL (OR 1.39 and 3.13, respectively). CONCLUSION: Less than a quarter of US patients with ASCVD in community practice are already achieving an LDL-C <55 mg/dL. Marked increases in utilization of both high intensity statins and combination therapy with non-statin therapy will be needed to achieve LDL-C levels <55 mg/dL at the population level in secondary prevention.

Comparative Neurological and Behavioral Assessment of Central and Peripheral Stimulation Technologies for Induced Pain and Cognitive Tasks.

Pain is a multifaceted, multisystem disorder that adversely affects neuro-psychological processes. This study compares the effectiveness of central stimulation (transcranial direct current stimulation-tDCS over F3/F4) and peripheral stimulation (transcutaneous electrical nerve stimulation-TENS over the median nerve) in pain inhibition during a cognitive task in healthy volunteers and to observe potential neuro-cognitive improvements. Eighty healthy participants underwent a comprehensive experimental protocol, including cognitive assessments, the Cold Pressor Test (CPT) for pain induction, and tDCS/TENS administration. EEG recordings were conducted pre- and post-intervention across all conditions. The protocol for this study was categorized into four groups: G1 (control), G2 (TENS), G3 (anodal-tDCS), and G4 (cathodal-tDCS). Paired t-tests (p < 0.05) were conducted to compare Pre-Stage, Post-Stage, and neuromodulation conditions, with t-values providing insights into effect magnitudes. The result showed a reduction in pain intensity with TENS (p = 0.002, t-value = -5.34) and cathodal-tDCS (p = 0.023, t-value = -5.08) and increased pain tolerance with TENS (p = 0.009, t-value = 4.98) and cathodal-tDCS (p = 0.001, t-value = 5.78). Anodal-tDCS (p = 0.041, t-value = 4.86) improved cognitive performance. The EEG analysis revealed distinct neural oscillatory patterns across the groups. Specifically, G2 and G4 showed delta-power reductions, while G3 observed an increase. Moreover, G2 exhibited increased theta-power in the occipital region during CPT and Post-Stages. In the alpha-band, G2, G3, and G4 had reductions Post-Stage, while G1 and G3 increased. Additionally, beta-power increased in the frontal region for G2 and G3, contrasting with a reduction in G4. Furthermore, gamma-power globally increased during CPT1, with G1, G2, and G3 showing reductions Post-Stage, while G4 displayed a global decrease. The findings confirm the efficacy of TENS and tDCS as possible non-drug therapeutic alternatives for cognition with alleviation from pain.

Efficacy of audiovisual neurofeedback training for attention enhancement: a multimodal approach.

Attention is a cognitive process that involves focusing mental resources on specific stimuli and plays a fundamental role in perception, learning, memory, and decision-making. Neurofeedback (NF) is a useful technique for improving attention, providing real-time feedback on brain activity in the form of visual or auditory cues, and allowing users to learn to self-regulate their cognitive processes. This study compares the effectiveness of different cues in NF training for attention enhancement through a multimodal approach. We conducted neurological (Quantitative Electroencephalography), neuropsychological (Mindfulness Attention Awareness Scale-15), and behavioral (Stroop test) assessments before and after NF training on 36 healthy participants, divided into audiovisual (G1) and visual (G2) groups. Twelve NF training sessions were conducted on alternate days, each consisting of five subsessions, with pre- and post-NF baseline electroencephalographic evaluations using power spectral density. The pre-NF baseline was used for thresholding the NF session using the beta frequency band power. Two-way analysis of variance revealed a significant long-term effect of group (G1/G2) and state (before/after NF) on the behavioral and neuropsychological assessments, with G1 showing significantly higher Mindfulness Attention Awareness Scale-15 scores, higher Stroop scores, and lower Stroop reaction times for interaction effects. Moreover, unpaired t -tests to compare voxel-wise standardized low-resolution brain electromagnetic tomography images revealed higher activity of G1 in Brodmann area 40 due to NF training. Neurological assessments show that G1 had better improvement in immediate, short-, and long-term attention. The findings of this study offer a guide for the development of NF training protocols aimed at enhancing attention effectively.

Social and Metabolic Characteristics Associated With Multiple DKA Admissions at a Large County Hospital.

Context: Diabetic ketoacidosis (DKA) is a preventable, deadly, and costly complication of type 1 diabetes mellitus (T1DM). Some individuals with T1DM have recurrent DKA admissions. Objective: We sought to characterize social factors that differ between patients with single vs multiple DKA admissions at an urban, safety-net hospital. Methods: We queried the electronic health records for T1DM patients admitted for DKA from 2019 to 2021. Admission laboratory values, demographic information, and detailed social histories were collected and analyzed statistically, including logistical regression. Results: A total of 243 patients were admitted for DKA, 64 of whom had multiple DKA admissions. There was no significant difference between the groups in their admission laboratory values, hospital length of stay, health-care payer status, history of homelessness, current employment, living alone, independence of activities of daily living, and barriers to discharge. T1DM patients with multiple DKA admissions had greater rates of substance use disorder (33.0% vs 60.9%; P < .001), especially with cannabis (6.7% vs 25.0%; P < .001), tobacco (26.3% vs 46.3%; P = .002), and psychoactive substance use (1.1% vs 6.3%; P = .043). Regression models of substance use showed increased risk with any substance use (odds ratio [CI] 3.17 [1.78-5.73]; P < .001) and cannabis (3.70 [1.55-8.83]; P = .003). Conclusion: We identified substance use as a possible predictor of T1DM patients at risk for multiple DKA admissions. Our findings identify a group of T1DM patients for whom interventions may help to decrease recurrence of DKA episodes within similar community hospital populations.

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

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.

A four-year review of orthodontic cases appearing before the General Dental Council Professional Conduct Committee.

OBJECTIVES: To evaluate the characteristics of orthodontic cases at the General Dental Council's (GDC) Professional Conduct Committee (PCC). DESIGN: Review of data from the GDC website for orthodontically related hearings or those involving orthodontic treatment providers during 2015-2018. SETTING: Observational descriptive study. METHODS: Data were accessed from the GDC website by a single researcher to retrieve orthodontic cases. The press office of the GDC was contacted to ensure all data were captured. For each case that met the inclusion criteria, demographic details of the registrant, the charges proved/not proved and final outcome of the case were recorded. RESULTS: A total of 23 registrant cases involved orthodontics and this was 8% of the total number of PCC hearings during 2015-2018. Nine (39%) of the registrants had a Membership in Orthodontics qualification although only 7 (30%) were registered as orthodontists on the UK GDC Specialist List in Orthodontics. Charges related to clinical assessment, consent and record keeping were mostly proved for dentists (13/16 hearings for each) whereas a poor standard of treatment and not cooperating with the GDC were mostly proved for orthodontists (4/7 hearings for each). Overall, conditions were imposed in 10 (44%) cases, erasure in 7 (30%) cases, suspension in 5 (22%) cases and a reprimand in 1 (4%) case. CONCLUSION: The GDC continue to view misdemeanours seriously and it would be prudent for registrants to be familiar with the nature of these hearings to reduce the risk of finding themselves in such a predicament.

Sex-related differences in premature cardiovascular disease in familial hypercholesterolemia.

BACKGROUND: Familial hypercholesterolemia (FH) is associated with an increased prevalence of premature atherosclerotic cardiovascular disease (ASCVD), however, little is known about sex-specific differences in premature ASCVD and its risk factors. OBJECTIVE: The present study seeks to assess the burden and risk factors for premature ASCVD among men and women with FH. METHODS: In this study we retrospectively examined sex-specific differences in ASCVD prevalence, risk factor burdens, and lipid treatment outcomes in 782 individuals with clinically or genetically confirmed FH treated in 5 U.S. lipid and genetics clinics. A generalized linear model using Binomial distribution with random study site effect and sex-stratified analysis was used to determine the strongest predictors of premature ASCVD, and lipid treatment outcomes. Covariates included age, sex, diabetes mellitus (DM), hypertension, and current smoking. RESULTS: Among the cohort, 98/280 men (35%) and 89/502 women (18%) had premature ASCVD (defined as <55 years in men and <65 years in women). Women with premature ASCVD had higher mean treated total cholesterol (216 vs. 179 mg/dl, p=<0.001) and LDL-C (135 vs. 109 mg/dl, p= 0.005). CONCLUSION: These data confirm that high percentages of women and men with FH develop premature ASCVD, and suggest that FH may narrow the observed sex difference in premature ASCVD onset. These data support more aggressive prevention and treatment strategies in FH, including in women, to reduce non-lipid risk factors and residual hypercholesterolemia.

Revival of sun-and-beach tourism through the lens of regulatory and risk dimensions of environmental sustainability.

Environmental sustainability is essential in tourism literature, and sun-and-beach tourism (SBT) is one of the most popular subsections of the tourism field. The appropriate policies and strategies during the COVID-19 pandemic to revive SBT growth through the lens of the regulatory dimension (RED) and risk dimension (RID) of environmental sustainability are gaining timely ground to conduct this research. The current study examined the nexus between SBT, RED, and RID utilizing three novel indexes (i.e., weighted sun-and-beach tourism index, weighted regulatory dimension index, and weighted risk dimension index) by employing the principal component analysis within the framework of six stages of empirical estimation strategy. These three novel indexes combine the most commonly used SBT, RED, and RID indicators. This research tested the CSD and homogeneous, then employed the second generation CIPS-CADF panel unit root test, used an AMG estimator, and employed the panel Toda-Yamamoto (PTY) causality test. The findings revealed that the RED positively influences SBT while the RID mitigates SBT. Results also indicate bidirectional causality between SBT, RID, and RED. In other words, changes in RID and RED have predictive power for the SBT, which further highlights the role of SBT on the RID and RED. Therefore, concerned authorities can focus on environmental sustainability design initiatives and appropriate policy/strategy implications to boost SBT.

Applying an LDL-C threshold-based approach to identify individuals with familial hypercholesterolemia.

BACKGROUND: Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated. The optimal electronic health record (EHR) screening strategy for FH is unclear. OBJECTIVE: To evaluate an LDL-C threshold-based approach of identifying patients with FH from the EHR to determine the optimal LDL-C range for FH consideration. METHODS: Individuals from UT Southwestern Medical Center with an LDL-C level ≥190mg/dL at any time were enrolled in an FH registry. These 5,786 patients were divided into four categories of LDL-C (190- 219, 220 - 249, 250 - 299, and ≥ 300mg/dL) with 100 individuals randomly selected for manual chart review in each category. Chart review included 1) the presence of secondary causes of dyslipidemia, 2) diagnosis of possible/definite FH by modified Simon Broome criteria, and 3) probable/definite FH by modified Dutch Lipid Clinic Network (DLCN) criteria. RESULTS: Of the 400 individuals with an LDL-C level ≥190mg/dL (mean age 52 years ± 14), the presence of secondary causes increased across each LDL-C category (p < 0.001) with the greatest prevalence in those ≥ 300mg/dL (52%). The prevalence of possible/probable or definite FH also varied by LDL-C category, with the highest prevalence of FH by Simon Broome criteria in the 220 - 249mg/dL category (52%) and by DLCN criteria in the 250 - 299mg/dL category (46%). CONCLUSIONS: Among those with LDL-C ≥ 190mg/dL, the prevalence of secondary causes increased markedly with higher LDL-C, while the diagnosis of FH has a parabolic relationship. Patients with intermediate LDL-C (220 - 299mg/dL) may be the optimal group to prioritize for FH screening.

In vitro fertilization and hypertriglyceridemic pancreatitis: Case report.

Few cases of hypertriglyceridemic pancreatitis have been reported in women during a vitro fertilization treatment (IVF) cycle. Here, we describe a 41-year-old woman with primary infertility and a history of acute pancreatitis (of unknown etiology) who was started on high dose ethinyl estradiol to prepare for transfer of cryopreserved embryos. She subsequently presented with nausea, vomiting, and abdominal pain to an emergency room and was found to have hypertriglyceridemic pancreatitis. Her hospitalization involved a prolonged intensive care unit stay in which she underwent three sessions of plasmapheresis. Eventually, with discontinuation of ethinyl estrogen, aggressive intravenous fluid hydration, plasmapheresis, a low-fat diet, and gemfibrozil, she had resolution of severe hypertriglyceridemia and all symptoms related to acute pancreatitis. Our case highlights the possibility that ethinyl estradiol, a commonly used form of estrogen for endometrial preparation during IVF cycles, may cause severe hypertriglyceridemia and acute pancreatitis in certain predisposed individuals. Only seven cases of hypertriglyceridemic pancreatitis during in vitro fertilization have been previously reported, and only one of these prior cases experienced pancreatitis during transfer of cryopreserved embryos like our patient. Our case, along with the few prior reported cases, demonstrate hypertriglyceridemic pancreatitis can occur during IVF. Further work is needed to understand the effects of exogenous estrogen on lipids for women undergoing IVF.

Nonalcoholic Fatty Liver Disease and Cardiovascular Risk: A Scientific Statement From the American Heart Association.

Nonalcoholic fatty liver disease (NAFLD) is an increasingly common condition that is believed to affect >25% of adults worldwide. Unless specific testing is done to identify NAFLD, the condition is typically silent until advanced and potentially irreversible liver impairment occurs. For this reason, the majority of patients with NAFLD are unaware of having this serious condition. Hepatic complications from NAFLD include nonalcoholic steatohepatitis, hepatic cirrhosis, and hepatocellular carcinoma. In addition to these serious complications, NAFLD is a risk factor for atherosclerotic cardiovascular disease, which is the principal cause of death in patients with NAFLD. Accordingly, the purpose of this scientific statement is to review the underlying risk factors and pathophysiology of NAFLD, the associations with atherosclerotic cardiovascular disease, diagnostic and screening strategies, and potential interventions.

Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden.

Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and familial combined hyperlipidemia to rare disorders including familial chylomicronemia syndrome and inherited hypoalphalipoproteinemias (ie, Tangier and fish eye diseases), affect millions of individuals in the United States and tens of millions around the world and are often undiagnosed in the general population. Clinicians should take into consideration the potential of inherited lipid disorders or syndromes when severe derangements in lipid parameters are observed. Patients' combined genotype and phenotype should be evaluated in conjunction with a host of environmental factors impacting their risk of atherosclerotic cardiovascular disease.

Evaluation of a Chair-Mounted Passive Trunk Orthosis: A Pilot Study on Able-Bodied Subjects.

Trunk stability is important for adequate arm function due to their kinematic linkage. People with Duchenne muscular dystrophy (DMD) can benefit from trunk-assistive devices for seated daily activities, but existing devices limit trunk movement to forward bending. We developed a new trunk orthosis that has spring and pulley design. This study evaluated orthosis performance with 40 able-bodied subjects under with and without orthosis condition in 20 seated tasks for trunk rotation, forward bending, and side bending movements. Subjects adopted static posture in specific trunk orientation while their muscle activity was recorded. They also rated the subjective scales of perceived exertion and usability. A percent change in muscle activity for each task, due to orthosis use, is reported. Significant muscle activity reductions up to 31% and 65% were observed in lumbar and thoracic erector spinae muscles, respectively. Using three-way ANOVA, we found these reductions to be specific to the task direction and the choice of upper limb that is used to perform the asymmetric tasks. A total of 70% participants reported acceptable usability and ~1-point increase in exertion was found for maximum voluntary reaching with the orthosis. The outcomes of this study are promising, though tested on able-bodied subjects. Hence, orthosis mounted on wheelchairs should be further evaluated on DMD patients.

Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia.

Background Black men and women are at higher risk for, and suffer greater morbidity and mortality from, atherosclerotic cardiovascular disease (ASCVD) compared with adults of European Ancestry (EA). Black patients with familial hypercholesterolemia are at particularly high risk for ASCVD complications because of lifelong exposure to elevated levels of low-density-lipoprotein cholesterol. Methods and Results This retrospective study analyzed ASCVD prevalence and risk factors in 808 adults with heterozygous familial hypercholesterolemia from 5 US-based lipid clinics, and compared findings in Black versus EA patients. Multivariate logistic regression models were used to determine the strongest predictors of ASCVD as a function of race. No significant difference was noted in the prevalence of ASCVD in Black versus EA patients with familial hypercholesterolemia (39% versus 32%, respectively; P=0.15). However, Black versus EA patients had significantly greater prevalence of modifiable risk factors, including body mass index (mean, 32±7 kg/m2 versus 29±6 kg/m2; P<0.001), hypertension (82% versus 50%; P<0.001), diabetes (39% versus 15%; P<0.001), and current smoking (16% versus 8%; P=0.006). Black versus EA patients also had significantly lower usage of statins (61% versus 73%; P=0.004) and other lipid-lowering agents. In a fully adjusted multivariate model, race was not independently associated with ASCVD (odds ratio, 0.92; 95% CI, 0.60-1.49; P=0.72). Conclusions The strongest predictors of ASCVD in Black patients with familial hypercholesterolemia were hypertension and cigarette smoking. These data support wider usage of statins and other lipid-lowering therapies and greater attention to modifiable risk, specifically blood pressure management and smoking cessation.

Monogenic and polygenic causes of low and extremely low LDL-C levels in patients referred to specialty lipid clinics: Genetics of low LDL-C.

BACKGROUND: In clinical setting, current standard-of-care does not include genetic testing for patients with low (<50 mg/dL) and extremely low (<20 mg/dL) levels of serum low-density lipoprotein-cholesterol (LDL-C). OBJECTIVE: We aimed identify the underlying molecular cause - both monogenic and polygenic - of low and extremely low LDL-C levels in a cohort of patients presenting to specialty lipid clinics. METHODS: Whole exome sequencing was done in patients with low or extremely low LDL-C not due to any secondary causes. RESULTS: Nine patients (4 women), ranging in age from 25 to 63 years old, with low or extremely low LDL-C levels were evaluated. Median LDL-C was 16 mg/dL (range undetectable - 43), total cholesterol 82 mg/dL (42 - 101), triglycerides 35 mg/dL (19-239), and high-density lipoprotein-cholesterol 45 mg/dL (24-81). Of nine patients, two carried known pathogenic variants in APOB (one stop-gain, one deletion; LDL-C range undetectable -10 mg/dL); three patients had novel APOB heterozygous mutations (two frameshift deletions and one splice site; LDL-C range undectable-13 mg/dL); two had heterozygous APOB frameshift deletions previously reported as variants of unknown significance (LDL-C 18 mg/dL in both patients); one (LDL-C 43 mg/dL) had two heterozygous mutations in PCSK9, both previously reported to be benign; and one patient (LDL-C 16 mg/dL) had the APO E2/E2 genotype along with several variants of unknown significance in genes associated with triglycerides. No patients had an LDL-C polygenic risk score below the 5th percentile (range 26th percentile to 93rd percentile). CONCLUSION: We found APOB mutations to be the most common molecular defect in patients presenting to lipid clinics with low or extremely low LDL-C . Whether clinical genetic testing and LDL-C polygenic risk scores have any utility - other than diagnostic purposes - for such patients remains unclear. In addition, further efforts may be needed to better reclassify pathogenicity of variants of unknown significance.

A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.

BACKGROUND: The Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e. direct engagement with FH probands and relatives outside usual healthcare settings) are feasible in the US. This is especially important since prior attempts at cascade screening in the US have had very low screening rates (<10% of families screened). METHODS: We conducted a multi-site single-arm proof-of-concept study in which the US-based FH Foundation (a 501c3 research and advocacy organization) directly engaged with FH probands and relatives similar to the approach taken by the Dutch "Foundation for Tracing FH." RESULTS: Eleven unrelated probands with genetically confirmed FH were enrolled. Mean age was 43 years; 82% were women, and 82% were of European ancestry. Prior to enrolling into the study, only 2 families (18% screening rate) were screened for FH with both lipid measurements and genetic testing. Two probands declined cascade screening due to fear over genetic discrimination. Nine total relatives engaged with the FH Foundation. Mean age was 43 years and 44% were women. Seven of those relatives (from 6 families; 55% screening rate) consented to be screened for FH with lipid measurement and genetic testing. The two additional relatives - men ages 39 and 49 - agreed to lipid measurements but not genetic testing, each noting he would like to think more about genetic testing. CONCLUSIONS: Our proof-of-concept study demonstrates the feasibility of the FH Foundation engaging FH probands and their relatives outside the usual healthcare settings for cascade screening, similar to the Dutch model. We found only 18% of families had already been screened, and after engaging with the FH Foundation, 55% of families were willing to participate in cascade screening. These findings suggest the methods described here may improve cascade screening rates in the US.

Implications of Islamic Governance towards Psychosocial Work Stressors and Work Productivity.

This is a cross-sectional study, using multivariate regression analysis, to explore the relationship of Islamic governance on psychosocial work stressors and work productivity in healthcare settings. The results revealed that Islamic governing components that are culturally assimilating were significantly related to positive aspects of psychosocial work stressors and increased productivity. Organisational goals that are re-directed towards the Maqasid, i.e. higher order of objectives in Islam, had direct benefits in reducing work-family conflict, promoting general health, increasing job satisfaction and improving commitment to work. Benefits, challenges and recommendations for future studies to expand the field of Islamic governance in organisational and cross-disciplinary healthcare research were discussed.

Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry.

OBJECTIVE: To describe enrollment characteristics of youth in the Cascade Screening for Awareness and Detection of FH Registry. STUDY DESIGN: This is a cross-sectional analysis of 493 participants aged <18 years with heterozygous familial hypercholesterolemia recruited from US lipid clinics (n = 20) between April 1, 2014, and January 12, 2018. At enrollment, some were new patients and some were already in care. Clinical characteristics are described, including lipid levels and lipid-lowering treatments. RESULTS: Mean age at diagnosis was 9.4 (4.0) years; 47% female, 68% white and 12% Hispanic. Average (SD) highest Low-density lipoprotein cholesterol (LDL-C) was 238 (61) mg/dL before treatment. Lipid-lowering therapy was used by 64% of participants; 56% were treated with statin. LDL-C declined 84 mg/dL (33%) among those treated with lipid-lowering therapy; statins produced the greatest decline, 100 mg/dL (39% reduction). At enrollment, 39% had reached an LDL-C goal, either <130 mg/dL or ≥50% decrease from pre-treatment; 20% of those on lipid-lowering therapy reached both goals. CONCLUSIONS: Among youth enrolled in the Cascade Screening for Awareness and Detection of FH Registry, diagnosis occurred relatively late, only 77% of children eligible for lipid-lowering therapy were receiving treatment, and only 39% of those treated met their LDL-C goal. Opportunities exist for earlier diagnosis, broader use of lipid-lowering therapy, and greater reduction of LDL-C levels.