Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

Wrist-Worn Wearables Based on Force Myography: On the Significance of User Anthropometry

Background Force myography (FMG) is a non-invasive technology used to track functional movements and hand gestures by sensing volumetric changes in the limbs caused by muscle contraction. Force transmission through tissue implies that differences in tissue mechanics and/or architecture might impact FMG signal acquisition and the accuracy of gesture classifier models. The aim of this study is to identify if and how user anthropometry affects the quality of FMG signal acquisition and the performance of machine learning models trained to classify different hand and wrist gestures based on that data. Methods Wrist and forearm anthropometric measures were collected from a total of 21 volunteers aged between 22 and 82 years old. Participants performed a set of tasks while wearing a custom-designed FMG band. Primary outcome measure was the Spearman’s correlation coefficient (R) between the anthropometric measures and FMG signal quality/ML model performance. Results Results demonstrated moderate (0.3 ≤|R| < 0.67) and strong (0.67 ≤ |R|) relationships for ratio of skinfold thickness to forearm circumference, grip strength and ratio of wrist to forearm circumference. These anthropometric features contributed to 23–30% of the variability in FMG signal acquisition and as much as 50% of the variability in classification accuracy for single gestures. Conclusions Increased grip strength, larger forearm girth, and smaller skinfold-to-forearm circumference ratio improve signal quality and gesture classification accuracy

Comparing unilateral and bilateral upper limb training: The ULTRA-stroke program design

<p>Abstract</p> <p>Background</p> <p>About 80% of all stroke survivors have an upper limb paresis immediately after stroke, only about a third of whom (30 to 40%) regain some dexterity within six months following conventional treatment programs. Of late, however, two recently developed interventions - constraint-induced movement therapy (CIMT) and bilateral arm training with rhythmic auditory cueing (BATRAC) - have shown promising results in the treatment of upper limb paresis in chronic stroke patients. The ULTRA-stroke (acronym for Upper Limb TRaining After stroke) program was conceived to assess the effectiveness of these interventions in subacute stroke patients and to examine how the observed changes in sensori-motor functioning relate to changes in stroke recovery mechanisms associated with peripheral stiffness, interlimb interactions, and cortical inter- and intrahemispheric networks. The present paper describes the design of this single-blinded randomized clinical trial (RCT), which has recently started and will take several years to complete.</p> <p>Methods/Design</p> <p>Sixty patients with a first ever stroke will be recruited. Patients will be stratified in terms of their remaining motor ability at the distal part of the arm (i.e., wrist and finger movements) and randomized over three intervention groups receiving modified CIMT, modified BATRAC, or an equally intensive (i.e., dose-matched) conventional treatment program for 6 weeks. Primary outcome variable is the score on the Action Research Arm test (ARAT), which will be assessed before, directly after, and 6 weeks after the intervention. During those test sessions all patients will also undergo measurements aimed at investigating the associated recovery mechanisms using haptic robots and magneto-encephalography (MEG).</p> <p>Discussion</p> <p>ULTRA-stroke is a 3-year translational research program which aims (1) to assess the relative effectiveness of the three interventions, on a group level but also as a function of patient characteristics, and (2) to delineate the functional and neurophysiological changes that are induced by those interventions.</p> <p>The outcome on the ARAT together with information about changes in the associated mechanisms will provide a better understanding of how specific therapies influence neurobiological changes, and which post-stroke conditions lend themselves to specific treatments.</p> <p>Trial Registration</p> <p>The ULTRA-stroke program is registered at the Netherlands Trial Register (NTR, <url>http://www.trialregister.nl</url>, number NTR1665).</p

Age-associated changes in hand grip and quadriceps muscle strength ratios in healthy adults

Background and aims: uscle strength may decline with age differentially in the upper and lower limbs. This information is difficult to capture through a single measure. The present study therefore aimed to characterize the relative changes in handgrip and lower limb muscle strength with aging by expressing them as a ratio. Methods: thirty-eight healthy volunteers aged 20–82 years performed maximal voluntary contractions (MVC) of quadriceps and handgrip using a custom-built transducer and a Jamar dynamometer respectively. Results: the grip-quadriceps ratios for young adults was similar in males and females (0.75); indicating knee extensor force exceeded grip force by approximately 25%. Ratios were increased in older adults (p=0.05), and strength of the two muscle groups was approximately equal (1.1). Pearson’s correlation coefficients for grip against quadriceps strength were r=0.63 (young males), r=0.83 (young females), r=0.35 (older males) and r=0.05 (older females). Conclusions: the ratio used demonstrated clear differences between the age groups. The reduced muscle strength with increasing age was expected but the higher grip/quadriceps strength ratios quantify a greater loss of quadriceps than grip strength with aging. It remains to be investigated whether the relatively greater rate of decline in quadriceps strength seen in healthy older people is more exaggerated in those who are frail, which would have implications for using grip strength as a physical marker of lower limb strength and function in those at risk of immobility and falls

Normative data on hand grip strength in a Greek adult population

The objectives of this study were to establish data concerning normal hand grip strength (GS) and to explore possible associations with anthropometric parameters. GS was measured in 232 individuals in a standard arm position using the Jamar dynamometer. We examined differences between right/left and dominant/nondominant hands. Possible correlations of GS with anthropometric values were evaluated. Right hand and dominant hand GS were found to be higher and statistically significant compared to left hand and nondominant hand GS, respectively. Men had higher values of GS compared to women. A negative association was observed between age and dominant hand GS. A positive association was documented between height and dominant hand GS, while the respective comparison for weight and dominant hand GS documented a statistically significant positive association only in the male group. A positive association between BMI and dominant hand GS was seen in female individuals. Additional factors associated with GS should be the goal of future investigations