Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected. KCND1 encodes the α-subunit of Kv4.1 voltage-gated potassium channels. All variant-associated amino acid substitutions affect either the cytoplasmic N- or C-terminus of the channel protein except for two occurring in transmembrane segments 1 and 4. Kv4.1 channels were functionally characterized in the absence and presence of auxiliary ß subunits. Variant-specific alterations of biophysical channel properties were diverse and varied in magnitude. Genetic data analysis in combination with our functional assessment shows that Kv4.1 channel dysfunction is involved in the pathogenesis of an X-linked neurodevelopmental disorder frequently associated with a variable neuropsychiatric clinical phenotype.

Managing the Rehabilitation Wave: Rehabilitation Services for COVID-19 Survivors.

The coronavirus disease 2019 (COVID-19) pandemic is having a profound effect on the provision of medical care. As the curve progresses and patients are discharged, the rehabilitation wave brings a high number of postacute COVID-19 patients suffering from physical, mental, and cognitive impairments threatening their return to normal life. The complexity and severity of disease in patients recovering from severe COVID-19 infection require an approach that is implemented as early in the recovery phase as possible, in a concerted and systematic way. To address the rehabilitation wave, we describe a spectrum of interventions that start in the intensive care unit and continue through all the appropriate levels of care. This approach requires organized rehabilitation teams including physical therapists, occupational therapists, speech-language pathologists, rehabilitation psychologists or neuropsychologists, and physiatrists collaborating with acute medical teams. Here, we also discuss administrative factors that influence the provision of care during the COVID-19 pandemic. The services that can be provided are described in detail to allow the reader to understand what services may be appropriate locally. We have been learning and adapting real time during this crisis and hope that sharing our experience facilitates the work of others as the pandemic evolves. It is our goal to help reduce the potentially long-lasting challenges faced by COVID-19 survivors.

Estimating Muscle Forces for Breast Cancer Survivors During Functional Tasks.

Breast cancer survivors have known scapular kinematic alterations that may be related to the development of secondary morbidities. A measure of muscle activation would help understand the mechanisms behind potential harmful kinematics. The purpose of this study was to define muscle force strategies in breast cancer survivors. Shoulder muscle forces during 6 functional tasks were predicted for 25 breast cancer survivors (divided by impingement pain) and 25 controls using a modified Shoulder Loading Analysis Module. Maximum forces for each muscle were calculated, and 1-way analysis of variance (P < .05) was used to identify group differences. The differences between maximum predicted forces and maximum electromyography were compared with repeated-measures analysis of variance (P < .05) to evaluate the success of the model predictions. Average differences between force predictions and electromyography ranged from 7.3% to 31.6% but were within the range of previously accepted differences. Impingement related pain in breast cancer survivors is associated with increased force of select shoulder muscles. Both pectoralis major heads, upper trapezius, and supraspinatus peak forces were higher in the pain group across all tasks. These force prediction differences are also associated with potentially harmful kinematic strategies, providing a direction for possible rehabilitation strategies.

Flexibility exercise training for adults with fibromyalgia.

BACKGROUND: Exercise training is commonly recommended for adults with fibromyalgia. We defined flexibility exercise training programs as those involving movements of a joint or a series of joints, through complete range of motion, thus targeting major muscle-tendon units. This review is one of a series of reviews updating the first review published in 2002. OBJECTIVES: To evaluate the benefits and harms of flexibility exercise training in adults with fibromyalgia. SEARCH METHODS: We searched the Cochrane Library, MEDLINE, Embase, CINAHL (Cumulative Index to Nursing and Allied Health Literature), PEDro (Physiotherapy Evidence Database), Thesis and Dissertation Abstracts, AMED (Allied and Complementary Medicine Database), the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP), and ClinicalTrials.gov up to December 2017, unrestricted by language, and we reviewed the reference lists of retrieved trials to identify potentially relevant trials. SELECTION CRITERIA: We included randomized trials (RCTs) including adults diagnosed with fibromyalgia based on published criteria. Major outcomes were health-related quality of life (HRQoL), pain intensity, stiffness, fatigue, physical function, trial withdrawals, and adverse events. DATA COLLECTION AND ANALYSIS: Two review authors independently selected articles for inclusion, extracted data, performed 'Risk of bias' assessments, and assessed the certainty of the body of evidence for major outcomes using the GRADE approach. All discrepancies were rechecked, and consensus was achieved by discussion. MAIN RESULTS: We included 12 RCTs (743 people). Among these RCTs, flexibility exercise training was compared to an untreated control group, land-based aerobic training, resistance training, or other interventions (i.e. Tai Chi, Pilates, aquatic biodanza, friction massage, medications). Studies were at risk of selection, performance, and detection bias (due to lack of adequate randomization and allocation concealment, lack of participant or personnel blinding, and lack of blinding for self-reported outcomes). With the exception of withdrawals and adverse events, major outcomes were self-reported and were expressed on a 0-to-100 scale (lower values are best, negative mean differences (MDs) indicate improvement). We prioritized the findings of flexibility exercise training compared to land-based aerobic training and present them fully here.Very low-certainty evidence showed that compared with land-based aerobic training, flexibility exercise training (five trials with 266 participants) provides no clinically important benefits with regard to HRQoL, pain intensity, fatigue, stiffness, and physical function. Low-certainty evidence showed no difference between these groups for withdrawals at completion of the intervention (8 to 20 weeks).Mean HRQoL assessed on the Fibromyalgia Impact Questionnaire (FIQ) Total scale (0 to 100, higher scores indicating worse HRQoL) was 46 mm and 42 mm in the flexibility and aerobic groups, respectively (2 studies, 193 participants); absolute change was 4% worse (6% better to 14% worse), and relative change was 7.5% worse (10.5% better to 25.5% worse) in the flexibility group. Mean pain was 57 mm and 52 mm in the flexibility and aerobic groups, respectively (5 studies, 266 participants); absolute change was 5% worse (1% better to 11% worse), and relative change was 6.7% worse (2% better to 15.4% worse). Mean fatigue was 67 mm and 71 mm in the aerobic and flexibility groups, respectively (2 studies, 75 participants); absolute change was 4% better (13% better to 5% worse), and relative change was 6% better (19.4% better to 7.4% worse). Mean physical function was 23 points and 17 points in the flexibility and aerobic groups, respectively (1 study, 60 participants); absolute change was 6% worse (4% better to 16% worse), and relative change was 14% worse (9.1% better to 37.1% worse). We found very low-certainty evidence of an effect for stiffness. Mean stiffness was 49 mm to 79 mm in the flexibility and aerobic groups, respectively (1 study, 15 participants); absolute change was 30% better (8% better to 51% better), and relative change was 39% better (10% better to 68% better). We found no evidence of an effect in all-cause withdrawal between the flexibility and aerobic groups (5 studies, 301 participants). Absolute change was 1% fewer withdrawals in the flexibility group (8% fewer to 21% more), and relative change in the flexibility group compared to the aerobic training intervention group was 3% fewer (39% fewer to 55% more). It is uncertain whether flexibility leads to long-term effects (36 weeks after a 12-week intervention), as the evidence was of low certainty and was derived from a single trial.Very low-certainty evidence indicates uncertainty in the risk of adverse events for flexibility exercise training. One adverse effect was described among the 132 participants allocated to flexibility training. One participant had tendinitis of the Achilles tendon (McCain 1988), but it is unclear if the tendinitis was a pre-existing condition. AUTHORS' CONCLUSIONS: When compared with aerobic training, it is uncertain whether flexibility improves outcomes such as HRQoL, pain intensity, fatigue, stiffness, and physical function, as the certainty of the evidence is very low. Flexibility exercise training may lead to little or no difference for all-cause withdrawals. It is also uncertain whether flexibility exercise training has long-term effects due to the very low certainty of the evidence. We downgraded the evidence owing to the small number of trials and participants across trials, as well as due to issues related to unclear and high risk of bias (selection, performance, and detection biases). While flexibility exercise training appears to be well tolerated (similar withdrawal rates across groups), evidence on adverse events was scarce, therefore its safety is uncertain.

Persistence Length and Cooperativity Estimation of Single Stranded DNA using FCS Combined with HYDRO Program.

Translational diffusion properties of single-stranded DNA (ssDNA) and G-quadruplexes were studied to determine the persistence length and cooperativity of G-quadruplex formation using FCS combined with HYDRO in which wormlike chain (WLC)-based Monte Carlo simulation are implemented. The presence of a guanine instead of a thymine shortened the contour length of nucleic acids and increased the vulnerability to ion screening. For cooperativity estimation, the telomeric sequence HT72 was assumed to undergo 27 intermediate states, which can be classified as ssDNA, single-G-quadruplex, double-G-quadruplex, and three consecutive G-quadruplexes. Each state type was modeled using a series of beads and appropriate bond lengths, which were obtained from the WLC model. Using the HYDRO program, we calculated diffusion times for each species, and these were used to calculate simulated HT72 diffusion times for mixtures of species in arbitrary KCl concentrations. By comparison between simulated and experimental diffusion properties, we obtained a positive cooperativity of C = 200 from FCS combined with HYDRO.

Whole body vibration exercise training for fibromyalgia.

BACKGROUND: Exercise training is commonly recommended for adults with fibromyalgia. We defined whole body vibration (WBV) exercise as use of a vertical or rotary oscillating platform as an exercise stimulus while the individual engages in sustained static positioning or dynamic movements. The individual stands on the platform, and oscillations result in vibrations transmitted to the subject through the legs. This review is one of a series of reviews that replaces the first review published in 2002. OBJECTIVES: To evaluate benefits and harms of WBV exercise training in adults with fibromyalgia. SEARCH METHODS: We searched the Cochrane Library, MEDLINE, Embase, CINAHL, PEDro, Thesis and Dissertation Abstracts, AMED, WHO ICTRP, and ClinicalTrials.gov up to December 2016, unrestricted by language, to identify potentially relevant trials. SELECTION CRITERIA: We included randomized controlled trials (RCTs) in adults with the diagnosis of fibromyalgia based on published criteria including a WBV intervention versus control or another intervention. Major outcomes were health-related quality of life (HRQL), pain intensity, stiffness, fatigue, physical function, withdrawals, and adverse events. DATA COLLECTION AND ANALYSIS: Two review authors independently selected trials for inclusion, extracted data, performed risk of bias assessments, and assessed the quality of evidence for major outcomes using the GRADE approach. We used a 15% threshold for calculation of clinically relevant differences. MAIN RESULTS: We included four studies involving 150 middle-aged female participants from one country. Two studies had two treatment arms (71 participants) that compared WBV plus mixed exercise plus relaxation versus mixed exercise plus relaxation and placebo WBV versus control, and WBV plus mixed exercise versus mixed exercise and control; two studies had three treatment arms (79 participants) that compared WBV plus mixed exercise versus control and mixed relaxation placebo WBV. We judged the overall risk of bias as low for selection (random sequence generation), detection (objectively measured outcomes), attrition, and other biases; as unclear for selection bias (allocation concealment); and as high for performance, detection (self-report outcomes), and selective reporting biases.The WBV versus control comparison reported on three major outcomes assessed at 12 weeks post intervention based on the Fibromyalgia Impact Questionnaire (FIQ) (0 to 100 scale, lower score is better). Results for HRQL in the control group at end of treatment (59.13) showed a mean difference (MD) of -3.73 (95% confidence interval [CI] -10.81 to 3.35) for absolute HRQL, or improvement of 4% (11% better to 3% worse) and relative improvement of 6.7% (19.6% better to 6.1% worse). Results for withdrawals indicate that 14 per 100 and 10 per 100 in the intervention and control groups, respectively, withdrew from the intervention (RR 1.43, 95% CI 0.27 to 7.67; absolute change 4%, 95% CI 16% fewer to 24% more; relative change 43% more, 95% CI 73% fewer to 667% more). The only adverse event reported was acute pain in the legs, for which one participant dropped out of the program. We judged the quality of evidence for all outcomes as very low. This study did not measure pain intensity, fatigue, stiffness, or physical function. No outcomes in this comparison met the 15% threshold for clinical relevance.The WBV plus mixed exercise (aerobic, strength, flexibility, and relaxation) versus control study (N = 21) evaluated symptoms at six weeks post intervention using the FIQ. Results for HRQL at end of treatment (59.64) showed an MD of -16.02 (95% CI -31.57 to -0.47) for absolute HRQL, with improvement of 16% (0.5% to 32%) and relative change in HRQL of 24% (0.7% to 47%). Data showed a pain intensity MD of -28.22 (95% CI -43.26 to -13.18) for an absolute difference of 28% (13% to 43%) and a relative change of 39% improvement (18% to 60%); as well as a fatigue MD of -33 (95% CI -49 to -16) for an absolute difference of 33% (16% to 49%) and relative difference of 47% (95% CI 23% to 60%); and a stiffness MD of -26.27 (95% CI -42.96 to -9.58) for an absolute difference of 26% (10% to 43%) and a relative difference of 36.5% (23% to 60%). All-cause withdrawals occurred in 8 per 100 and 33 per 100 withdrawals in the intervention and control groups, respectively (two studies, N = 46; RR 0.25, 95% CI 0.06 to 1.12) for an absolute risk difference of 24% (3% to 51%). One participant exhibited a mild anxiety attack at the first session of WBV. No studies in this comparison reported on physical function. Several outcomes (based on the findings of one study) in this comparison met the 15% threshold for clinical relevance: HRQL, pain intensity, fatigue, and stiffness, which improved by 16%, 39%, 46%, and 36%, respectively. We found evidence of very low quality for all outcomes.The WBV plus mixed exercise versus other exercise provided very low quality evidence for all outcomes. Investigators evaluated outcomes on a 0 to 100 scale (lower score is better) for pain intensity (one study, N = 23; MD -16.36, 95% CI -29.49 to -3.23), HRQL (two studies, N = 49; MD -6.67, 95% CI -14.65 to 1.31), fatigue (one study, N = 23; MD -14.41, 95% CI -29.47 to 0.65), stiffness (one study, N = 23; MD -12.72, 95% CI -26.90 to 1.46), and all-cause withdrawal (three studies, N = 77; RR 0.72, 95% CI -0.17 to 3.11). Adverse events reported for the three studies included one anxiety attack at the first session of WBV and one dropout from the comparison group ("other exercise group") due to an injury that was not related to the program. No studies reported on physical function. AUTHORS' CONCLUSIONS: Whether WBV or WBV in addition to mixed exercise is superior to control or another intervention for women with fibromyalgia remains uncertain. The quality of evidence is very low owing to imprecision (few study participants and wide confidence intervals) and issues related to risk of bias. These trials did not measure major outcomes such as pain intensity, stiffness, fatigue, and physical function. Overall, studies were few and were very small, which prevented meaningful estimates of harms and definitive conclusions about WBV safety.

Aerobic exercise training for adults with fibromyalgia.

BACKGROUND: Exercise training is commonly recommended for individuals with fibromyalgia. This review is one of a series of reviews about exercise training for people with fibromyalgia that will replace the "Exercise for treating fibromyalgia syndrome" review first published in 2002. OBJECTIVES: • To evaluate the benefits and harms of aerobic exercise training for adults with fibromyalgia• To assess the following specific comparisons ० Aerobic versus control conditions (eg, treatment as usual, wait list control, physical activity as usual) ० Aerobic versus aerobic interventions (eg, running vs brisk walking) ० Aerobic versus non-exercise interventions (eg, medications, education) We did not assess specific comparisons involving aerobic exercise versus other exercise interventions (eg, resistance exercise, aquatic exercise, flexibility exercise, mixed exercise). Other systematic reviews have examined or will examine these comparisons (Bidonde 2014; Busch 2013). SEARCH METHODS: We searched the Cochrane Library, MEDLINE, Embase, the Cumulative Index to Nursing and Allied Health Literature (CINAHL), the Physiotherapy Evidence Database (PEDro), Thesis and Dissertation Abstracts, the Allied and Complementary Medicine Database (AMED), the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP), and the ClinicalTrials.gov registry up to June 2016, unrestricted by language, and we reviewed the reference lists of retrieved trials to identify potentially relevant trials. SELECTION CRITERIA: We included randomized controlled trials (RCTs) in adults with a diagnosis of fibromyalgia that compared aerobic training interventions (dynamic physical activity that increases breathing and heart rate to submaximal levels for a prolonged period) versus no exercise or another intervention. Major outcomes were health-related quality of life (HRQL), pain intensity, stiffness, fatigue, physical function, withdrawals, and adverse events. DATA COLLECTION AND ANALYSIS: Two review authors independently selected trials for inclusion, extracted data, performed a risk of bias assessment, and assessed the quality of the body of evidence for major outcomes using the GRADE approach. We used a 15% threshold for calculation of clinically relevant differences between groups. MAIN RESULTS: We included 13 RCTs (839 people). Studies were at risk of selection, performance, and detection bias (owing to lack of blinding for self-reported outcomes) and had low risk of attrition and reporting bias. We prioritized the findings when aerobic exercise was compared with no exercise control and present them fully here.Eight trials (with 456 participants) provided low-quality evidence for pain intensity, fatigue, stiffness, and physical function; and moderate-quality evidence for withdrawals and HRQL at completion of the intervention (6 to 24 weeks). With the exception of withdrawals and adverse events, major outcome measures were self-reported and were expressed on a 0 to 100 scale (lower values are best, negative mean differences (MDs)/standardized mean differences (SMDs) indicate improvement). Effects for aerobic exercise versus control were as follows: HRQL: mean 56.08; five studies; N = 372; MD -7.89, 95% CI -13.23 to -2.55; absolute improvement of 8% (3% to 13%) and relative improvement of 15% (5% to 24%); pain intensity: mean 65.31; six studies; N = 351; MD -11.06, 95% CI -18.34 to -3.77; absolute improvement of 11% (95% CI 4% to 18%) and relative improvement of 18% (7% to 30%); stiffness: mean 69; one study; N = 143; MD -7.96, 95% CI -14.95 to -0.97; absolute difference in improvement of 8% (1% to 15%) and relative change in improvement of 11.4% (21.4% to 1.4%); physical function: mean 38.32; three studies; N = 246; MD -10.16, 95% CI -15.39 to -4.94; absolute change in improvement of 10% (15% to 5%) and relative change in improvement of 21.9% (33% to 11%); and fatigue: mean 68; three studies; N = 286; MD -6.48, 95% CI -14.33 to 1.38; absolute change in improvement of 6% (12% improvement to 0.3% worse) and relative change in improvement of 8% (16% improvement to 0.4% worse). Pooled analysis resulted in a risk ratio (RR) of moderate quality for withdrawals (17 per 100 and 20 per 100 in control and intervention groups, respectively; eight studies; N = 456; RR 1.25, 95%CI 0.89 to 1.77; absolute change of 5% more withdrawals with exercise (3% fewer to 12% more).Three trials provided low-quality evidence on long-term effects (24 to 208 weeks post intervention) and reported that benefits for pain and function persisted but did not for HRQL or fatigue. Withdrawals were similar, and investigators did not assess stiffness and adverse events.We are uncertain about the effects of one aerobic intervention versus another, as the evidence was of low to very low quality and was derived from single trials only, precluding meta-analyses. Similarly, we are uncertain of the effects of aerobic exercise over active controls (ie, education, three studies; stress management training, one study; medication, one study) owing to evidence of low to very low quality provided by single trials. Most studies did not measure adverse events; thus we are uncertain about the risk of adverse events associated with aerobic exercise. AUTHORS' CONCLUSIONS: When compared with control, moderate-quality evidence indicates that aerobic exercise probably improves HRQL and all-cause withdrawal, and low-quality evidence suggests that aerobic exercise may slightly decrease pain intensity, may slightly improve physical function, and may lead to little difference in fatigue and stiffness. Three of the reported outcomes reached clinical significance (HRQL, physical function, and pain). Long-term effects of aerobic exercise may include little or no difference in pain, physical function, and all-cause withdrawal, and we are uncertain about long-term effects on remaining outcomes. We downgraded the evidence owing to the small number of included trials and participants across trials, and because of issues related to unclear and high risks of bias (performance, selection, and detection biases). Aerobic exercise appears to be well tolerated (similar withdrawal rates across groups), although evidence on adverse events is scarce, so we are uncertain about its safety.

Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.

Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965-2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561-567, 2016. © 2015 Wiley Periodicals, Inc.

Pico-force optical exchange (pico-FOX): utilizing optical forces applied to an orthogonal electroosmotic flow for particulate enrichment from mixed sample streams.

Results are reported from a combined optical force and electrokinetic microfluidic device that separates individual particulates from molecular components in a mixed sample stream. A pico-Newton optical force was applied to an orthogonal electroosmotic flow carrying a hydrodynamically pinched, mixed sample, resulting in the separation of the various particles from the sample stream. Different combinations of polystyrene, PMMA, and silica particles with a commercially available dye were utilized to test the different separation modes available, from purely optical force to combined optical and electrophoretic forces. The impact of various particle properties on particle separation and separation efficiency were explored, including size (2, 6, 10 µm), refractive index, and electrophoretic mobility. Particle addressability was achieved by moving particles to different outlets on the basis of particle size, refractive index, and electrophoretic differences. Separations of 6 and 10 µm polystyrene particles led to only 3% particle contamination in the original sample stream and interparticle type enrichment levels >80%. The unique addressability of three different particle materials (polystyrene, PMMA, and silica) of the same size (2 µm) led to each being separated into a unique outlet without measurable contamination of the other particle types using optical force and electrophoretic mobility. In addition to particle separation, the device was able to minimize dye diffusion, leading to >95% dye recovery. This combined platform would have applications for noninvasive sample preparation of mixed molecular/particulate systems for mating with traditional analytics as well as efficient removal of harmful, degrading components from complex mixtures.

Musculotendinous architecture of pathological supraspinatus: a pilot in vivo ultrasonography study.

Architectural changes associated with tendon tears of the supraspinatus muscle (SP) have not been thoroughly investigated in vivo with the muscle in relaxed and contracted states. The purpose of this study was to quantify the geometric properties within the distinct regions of SP in subjects with full-thickness tendon tears using an ultrasound protocol previously developed in our laboratory, and to compare findings with age/gender matched normal controls. Twelve SP from eight participants (6 male/2 female), mean age 57 ± 6.0 years, were investigated. Muscle geometric properties of the anterior region (middle and deep parts) and posterior region (deep part) were measured using image analysis software. Along with whole muscle thickness, fiber bundle length (FBL) and pennation angle (PA) were computed for architecturally distinct regions and/or parts. Pathologic SP was categorized according to the extent of the tear in the tendon (with or without retraction). In the anterior region, mean FBL of the pathologic SP was similar with normal controls; however, mean PA was significantly smaller in pathologic SP with retraction compared with normal controls, in the contracted state (P < 0.05). Mean FBL in the posterior region in both relaxed and contracted states was significantly shorter in the pathologic SP with retraction compared with normal controls (P < 0.05). Findings suggest FBL changes associated with tendon pathology vary between the distinct regions, and PA changes are related to whether there is retraction of the tendon. The ultrasound protocol may provide important information on architectural changes that may assist in decision making and surgical planning.

Age at onset of alcohol consumption and its association with alcohol misuse in adulthood.

OBJECTIVE: This study aimed to explore the association between early age onset of alcohol consumption and alcohol misuse in adulthood. METHODS: The study sample consisted of 16 829 individuals' (8349 males, 8435 females) survey responses obtained from the Korea National Health and Nutrition Examination Survey (KNHANES) from 2016 through 2019. Alcohol dependence was measured using the AUDIT-C (Alcohol Use Disorder Identification Test-Consumption), and the ages at which alcohol consumption began were grouped into four categories: under 16, 16 to 18, 19 to 23, and over 24. Multiple logistic regression was used to examine the association between current alcohol misuse and age at onset of alcohol consumption. RESULTS: Compared to individuals who started drinking alcohol after the age of 24, those who began drinking alcohol before the age of 16 were more likely to score 8 or more on AUDIT-C questions (under 16: males, odds ratio [OR] 2.50, confidence interval [CI] 1.97-3.17; females, OR: 1.66, CI: 1.18-2.33). Similar to the main analysis, the earlier the onset of alcohol assumption starts, the more likely one is to develop alcohol misuse in adulthood according to subgroup analysis stratified by independent variables in both gender. CONCLUSION: The lower the age at the onset of alcohol consumption, the higher the likelihood of alcohol misuse in adulthood. While both males and females showed the same trend in response to the AUDIT-C questions, males tended to have a stronger association between early onset alcohol consumption and alcohol misuse.

A comparison of isometric and isokinetic normalization methods for electromyographic data from sub-regions of supraspinatus and infraspinatus during dynamic tasks.

This study explored effects of using isometric versus isokinetic maximal voluntary contractions (MVCs) to normalize EMG data from supraspinatus and infraspinatus subregions during isokinetic tasks. Participants performed submaximal isokinetic external rotation (ER) and scaption tasks at two speeds. Three isometric MVCs were used: seated ER; side-lying scaption; side-lying abduction. Isokinetic MVCs were performed in the same position and speeds as the experimental tasks. Data were normalized using peak EMG from reference tasks: MVC which produced the greatest amplitude overall (MEA), isometric MVC with greatest amplitude (isometric best), isokinetic MVC with greatest amplitude (isokinetic best), and the greatest amplitude from the isokinetic MVC that matched the experimental task (isokinetic matched). Mean %MVC from each experimental task/ sub-region were compared by normalization method. The isokinetic matched method versus the MEA method was significantly different in all comparisons with isokinetic matched resulting in relative normalized task values up to 162% greater. The isometric best method resulted in significantly greater %MVC 37% of the time compared to the MEA method, whereas there were no differences when using isokinetic best compared to MEA. Isokinetic MVCs are less likely to overestimate %MVC than isometric and their use should be considered when normalizing data from dynamic tasks.

Effect of Breast Reconstruction on Kinematics and Performance during Upper Limb-Focused Functional Tasks.

BACKGROUND: Breast reconstruction after curative breast cancer surgery is becoming increasingly common. There is evidence to suggest that these surgeries have negative effects on shoulder function, but to date there have been no investigations of shoulder biomechanics during functional tasks in this group. The purpose of this study was to define and compare upper limb motion of patients with breast cancer who underwent mastectomy only or mastectomy with reconstruction with a control group without cancer during a range of work-related functional tasks. METHODS: Ninety-five women participated: 25 controls, 25 patients with breast cancer who received a mastectomy only, and 45 patients with breast cancer who received a mastectomy with reconstruction (implant, latissimus dorsi flap, or deep inferior epigastric artery perforator flap). Motion of the torso, humeri, and scapulae were tracked during arm-focused functional tasks, involving reaching, dexterity, and lifting overhead, and joint angles were calculated. Mean, maximum, and minimum angles were calculated and compared among groups using one-way analyses of variance ( p < 0.05). RESULTS: The reconstruction group had significantly different kinematics than the other two groups. Throughout task performance, patients who had reconstruction had increased scapular posterior tilt and increased humeral external rotation. These findings are consistent with reconstruction surgical procedures and may highlight muscle pattern alterations that interfere with co-contraction, stability, and functional task performance. CONCLUSIONS: The findings suggest that breast reconstruction surgery influences functional task performance. Scapular and humeral kinematics may indicate movement pattern differences that are important to address in rehabilitation. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

The utility of the acromion marker cluster (AMC) in a clinical population.

INTRODUCTION: The acromion marker cluster (AMC) is a non-invasive scapular motion tracking method. However, it lacks testing in clinical populations, where unique challenges may present. This investigation resolved the utility of the AMC approach in a compromised clinical population. METHODS: The upper body of breast cancer survivors (BCS) and controls were tracked via motion capture and scapular landmarks palpated and recorded using a digitizer at static neutral to maximum elevation postures. The AMC tracked the scapula during dynamic maximum arm abduction. Both single (SC) and double calibration (DC) methods were applied to calculate scapular angles. The influences of calibration method, elevation, and group on mean and absolute error with two-way fixed ANOVAs with interactions (p < 0.05). Root mean square errors (RMSE) were calculated and compared. RESULTS: DC improved AMC estimation of palpated scapular orientation over SC, especially at higher arm elevations; RMSE averaged 11° higher for SC than DC at maximum elevation, but the methods were only 2.2° different at 90° elevation. DC of the AMC yielded mean error values of ∼5-10°. These approximate errors reported for AMC with young, lean adults. CONCLUSIONS: The AMC with DC is a non-invasive method with acceptable error for measuring scapular motion of BCS and age-matched controls.

Regional Electromyography of the Infraspinatus and Supraspinatus Muscles During Standing Isometric External Rotation Exercises.

BACKGROUND: Whole-muscle electromyography (EMG) data of the rotator cuff support external rotation (ER) strengthening exercises during shoulder rehabilitation. However, distinct neuroanatomic regions in the supraspinatus and infraspinatus exist. Differences in regional muscle activity occur during rehabilitation exercises, but little information is available for ER exertions. HYPOTHESIS: Regional infraspinatus and supraspinatus muscle activity during standing ER exertions will differ with posture and intensity. STUDY DESIGN: Descriptive laboratory study. LEVEL OF EVIDENCE: Level 5. METHODS: Twenty healthy individuals (12 men, 8 women) participated. Fine wire electrodes were inserted into 2 supraspinatus and 3 infraspinatus muscle regions. EMG data were recorded during standing isometric ER exertions at 2 intensities (maximal, submaximal) and in 7 postures defined by the angle (0°, 30°, 90°) and plane (abduction, scaption, flexion) of arm elevation. EMG data were normalized to maximum voluntary isometric contraction (% MVIC) to examine the influences of posture, intensity and their interaction on muscle activity. RESULTS: Superior infraspinatus activity was higher in 0° of elevation (50.9% ± 5.7% MVIC) versus 30° of flexion (37.4% ± 3.9% MVIC) at maximal intensity. Inferior infraspinatus activity was higher in 90° of scaption (max = 59.8% ± 2.8% MVIC, submax = 29.4% ± 1.9% MVIC) versus 0° of elevation (max = 42.3% ± 4.5% MVIC, submax = 22.4% ± 2.8% MVIC) (P = 0.02, P = 0.05, respectively). Anterior supraspinatus activity was highest in 90° of adbuction (max = 61.6% ± 3.1% MVIC; submax = 39.1% ± 3.8% MVIC) and lowest in 30° of flexion (max = 29.0% ± 3.4% MVIC, submax = 15.6% ± 1.7% MVIC) and 90° of flexion (max = 34.6% ± 2.4% MVIC, submax = 14.8% ± 1.9% MVIC). Posterior suprasptinatus activity was lowest in 0° of elevation (34.2% ± 3.0% MVIC), 30° of flexion (33.0% ± 3.6% MVIC) and highest in 90° of abduction (56.2% ± 4.1% MVIC) and 90° of scaption (46.7% ± 2.8% MVIC) (all Ps < 0.04). CONCLUSION: Regional infraspinatus and supraspinatus muscle activity differed with posture and intensity. Superior and middle infraspinatus muscle activities were similar across postures, but inferior infraspinatus activity was highest in 90° of arm elevation. Anterior and posterior supraspinatus activities were higher in the abduction and scaption planes, especially at 90° of elevation, as compared with the flexion plane. CLINICAL RELEVANCE: In shoulder rehabilitation of supraspinatus tendon injuries, ER exercises in the flexion plane challenge the whole infraspinatus muscle and require lower supraspinatus muscle activity.

Evidence of rotator cuff disease after breast cancer treatment: scapular kinematics of post-mastectomy and post-reconstruction breast cancer survivors.

BACKGROUND: Breast cancer survivors may be at risk of experiencing rotator cuff disease after treatment. Biomechanical alterations following surgery potentially predispose survivors to develop this disorder. OBJECTIVE: To examine scapular kinematics in breast cancer survivors with and without impingement pain during an overhead reach task. DESIGN: A cross-sectional study. METHODS: Three surgery groups were included: non-cancer controls, mastectomy-only survivors and post-reconstruction survivors. Breast cancer survivor groups were also categorized by the presence of impingement pain. Scapular motion was tracked during an overhead reach task, performed separately by both arms. Maximum scapular internal rotation, upward rotation and tilt were calculated. Two-way analyses of variance with interactions (p < .05) were used to test the effects of group (control, mastectomy-only, reconstruction) and impingement pain (pain, no pain) on each variable within a (left/right) side. RESULTS: Scapular kinematics varied with the group by pain interaction. On the right side, the mastectomy-pain group had reduced upward rotation, while the reconstruction-pain group had higher upward rotation (mastectomy-only: 22.9° vs. reconstruction: 31.2°). On the left side, the mastectomy-pain group had higher internal rotation, while the reconstruction-pain group had reduced internal rotation (mastectomy-only: 45.1° vs. reconstruction: 39.3°). However, time since surgery was longer in the mastectomy-pain group than reconstruction-pain group, suggesting there may be a temporal component to kinematic compensations. CONCLUSIONS: There are kinematic alterations in breast cancer survivors that may promote future development of rotator cuff disease. Compensations may begin as protective and progress to more harmful alterations with time.KEY MESSAGESScapular kinematics varied with surgery and pain interaction: upward rotation was lower and internal rotation higher in mastectomy-pain group, while upward rotation was higher and internal rotation lower in reconstruction-pain group.Kinematics alterations may also be associated with time since surgery, as the mastectomy-pain group had longer time since surgery than the reconstruction-pain group.Kinematic alterations may transition from protective to harmful over time.In-depth analyses by reconstruction type are needed to determine surgery-specific effects on kinematics and their potential impact on the development of rotator cuff disease.

A survey of dedicated PASC clinics: Characteristics, barriers and spirit of collaboration.

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can produce prolonged multi-organ system dysfunction and a worsened quality of life, a condition known as Post-Acute Sequelae of SARS-CoV-2 Infection (PASC). In response, clinics have emerged dedicated to the treatment of individuals with PASC. OBJECTIVE: To better understand the current characteristics of these clinics, the barriers they face, and the interest in collaboration between clinics. DESIGN: A cross-sectional survey study. PARTICIPANTS: Clinicians working within dedicated PASC centers (N = 94) identified primarily through the Survivor Corps database of Post-COVID Care Centers. Additional clinics were found through news articles, an American Academy of Physical Medicine and Rehabilitation Database, and word of mouth. METHODS: The branching logic electronic survey consisting of up to 39 questions was sent electronically to potential participants. RESULTS: Complete survey responses were obtained from 45 clinics. There was a wide variety of different clinical models and specialties involved. The majority of clinics were homed in physical medicine and rehabilitation (40%), pulmonology (22%), and internal medicine (16%). Most clinics (73%) reported experiencing obstacles in the treatment of their patients, the most common of which included needing more established protocols (45%) and more clinical resources (24%). Most clinics (76%) also reported an interest in participating in a collaborative clinical network. CONCLUSION: Despite wide variability in current clinical models of PASC clinics, there are common practices such as using telemedicine, having initial visits longer than 30 minutes, involving certain specialties in the treatment team, and having the ability for follow-up. Clinicians involved with PASC clinics have a strong interest in collaboration to improve patient care and overcome clinical obstacles, the most common of which is the lack of clear treatment protocols. More research is needed to identify which clinical models lead to better patient outcomes.

Surgical repair of the supraspinatus: pre- and postoperative architectural changes in the muscle.

INTRODUCTION: Shortening of the tendon and muscle is recognised as a strong predictor of surgical failure of supraspinatus tendon tears. Changes in muscle architecture following repair have not been thoroughly investigated. Hence, we aimed to compare the pre- and postoperative architecture of the supraspinatus. METHODS: We recruited eight participants with full-thickness supraspinatus tears. Images of the supraspinatus were captured preoperatively (pre-op) and postoperatively at one month (post-op1), three months (post-op2) and six months (post-op3) in relaxed and contracted states (0º and 60º glenohumeral abduction). Fibre bundle length (FBL), pennation angle (PA) and muscle thickness were quantified. Self-reported function, and maximal isometric abduction and external rotation strengths were assessed. RESULTS: The mean FBL increased from pre-op to post-op1 (p = 0.001) in the relaxed state and from pre-op to post-op2 (p = 0.002) in the contracted state. Decrease in FBL was observed from post-op2 to post-op3 in the relaxed state. The mean PA decreased from pre-op to post-op1 (p < 0.001) in the relaxed state, but increased from post-op2 to post-op3 in both relaxed (p = 0.006) and contracted (p = 0.004) states. At post-op3, external rotation (p = 0.009) and abduction (p = 0.005) strengths were greater than at post-op2. Overall function increased by 47.67% from pre-op to post-op3. CONCLUSION: Lengthening of the supraspinatus occurs with surgery, altering the length-tension relationship of the muscle, which can compromise muscle function and lead to inferior surgical outcomes. These findings may guide clinicians to optimise loads, velocities and shoulder ranges for effective postoperative rehabilitation.

Regional activation of supraspinatus and infraspinatus sub-regions during dynamic tasks performed with free weights.

Growing evidence supports the existence of distinct anatomical sub-regions within supraspinatus and infraspinatus, but only recently has attention turned to exploring their potential functional differences. Using indwelling fine-wire electromyography, muscle activity was investigated from these sub-regions in 15 participants (mean 34 yr, 170 cm, 71.9 kg) during dynamic external rotation (ER), abduction, flexion, and scaption tasks with and without free weights corresponding to 50% and 75% of the participant's five repetition maximum. Electromyography data were normalized to isometric and isokinetic maximal voluntary contractions and activation ratios for each sub-region compared. Differences in mean regional activation ratios for supraspinatus and infraspinatus varied by arm posture, but were not influenced by load. Relative activation of posterior supraspinatus was greater during an ER task performed in side lying compared to an ER task performed with 90° of humeral elevation in seated and prone postures. Relative activation of superior infraspinatus was greater during an ER task in prone and side lying postures compared to flexion and scaption. Similar results were found when comparing regional muscle activation ratios for infraspinatus between tasks regardless of normalization method employed. These findings may impact exercise selection in the non-operative management of rotator cuff tears.

Colorectal Cancer Screening in the Elderly: Is Age Just a Number?

INTRODUCTION: Colorectal cancer screening improved outcomes for patients diagnosed between the age of 45-75. Present life expectancy is beyond this limit, yet there are no guidelines for these ages. We aim to identify outcomes after screening and intervention in patients ≥75 years and correlate with frailty. MATERIALS AND METHODS: Records between 2011 and 2019 were queried. Patients ≥75 screened and treated for colorectal cancer were included. Patient demographics, perioperative mortality, age at last colonoscopy and frailty score were calculated. A Modified Frailty Index from the Canadian Study of Health and Aging Frailty Index was used. A score of 1 to 11 was calculated based on patient comorbidities. The MFI was assigned from 0 to 11: 0 signified absence of frailty and 11 indicated maximum frailty. RESULTS: Of 179 patients were identified, 46.3% males. 171(95%) had elective and 8 (5%) had emergent surgery. The average age was 81.8 years. All colonoscopies were performed for symptoms. A modified frailty index was retrospectively calculated; 75% of patients scored between 0 and 2 and 1% scored >6. CONCLUSION: Older patients who underwent colonoscopy and surgery for symptomatic colon cancer had a low mortality, 2%. The average age was 6.8 years older than the recommended cutoff for colonoscopy screening. Most patients scored 0 to 2 on the modified frailty index, suggesting that not only are older patients more fit than previously thought, but also able to tolerate colorectal interventions more liberally. Utilizing frailty indices to identify screening patterns beyond 75 years of age might prove beneficial for this patient population. Further studies are recommended.