Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.
This study was designed to compare the effects of individual sensory integration treatments on the improvement of motor skills and group psychomotorik activities that produce a wide range of interactions with peers. The research targets two 4-year-old children, who are currently in the main building, and 40 minutes of psychomotorik and sensory integration treatment were applied to them twice a week from April 2017 to January 2018. The study method used assessment tools such as B-O test, DeGangi-Berk Test of Sensory Integration (TSI), and MOT4-6 respectively. The results of the study showed that programs in both areas had positive effects on motor skills, with significantly improved performance in balance and postural control, in particular.
The Journal of Korean Academy of Orthopedic Manual Physical Therapy
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v.17
no.1
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pp.35-44
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2011
Background: This study was to suggest the process of making strategy for effective intervention and evaluation on functional problems of the frozen shoulder patient applied International Classification of Functioning Disability and Health (ICF) Tools. Methods: The patient was 48years old woman with right shoulder adhesive capsulitis and calcific tendinitis. In first phase, therapists could list the information relating to functional problems used by the ICF Core set and then could confirm the interaction among the problems using the ICF assessment sheet. In second phase, therapist is needed to make the hypothesis and hypothesis testing and then set a primary functional goals and therapeutic goals in detail after prioritizing the problems to be managed based on the problem list. Lastly, after setting the confirmed problems as the purpose of intervention through the hypothesis testing, therapist could do some intervention after making a plan to solve these problems. Results: This report illustrates how to apply the process based on ICF concept into physical therapy practice. The decided hypothesis and goal that are to solve the problems the client faced were remarkably meaningful. Conclusions: Clinical decision making for the most effective intervention requires that therapists use the clinical reasoning process based on ICF concept.
Jonathan Koa;Mohamad Y. Fares;Mohammad Daher;Joseph A. Abboud
Clinics in Shoulder and Elbow
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v.27
no.2
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pp.237-246
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2024
Proximal humeral fractures (PHFs) are a common injury among the older population. An ideal therapeutic protocol has yet to be developed, and numerous clinical trials are being conducted to find the best therapeutic approach. The purpose of this study is to evaluate the current body of knowledge available via interventional clinical trials. In December 2022, interventional clinical trials relating to PHFs on Clinicaltrials.gov were screened. Trial characteristics included duration, status, intervention, phase, outcomes, location, and study design. Publications associated with each trial were searched on PubMed/Medline using the ClinicalTrials.gov registry number. The final dataset comprised 64 trials. The most common trial status was completed (36%). The majority did not have a Food and Drug Administration-defined phase (67%), was randomized (81%), involved a single facility (72%), used a parallel assignment intervention model (80%), and used an open-label approach (45%). Eleven trials were associated with a publication, and the publication rate was 17%. Average enrollment was 86 participants, and mean trial duration was 51.4 months. Europe/UK/Russia/Turkey participated in the most trials (70%). Most of the trials were initiated after 2010 (87.5%). Procedure-related interventions (55%) were most common. Disability/function was the most common primary outcome assessed (61%). The low publication rate and the multitude of trials conducted after 2010 highlight the urgency and need for trial results to be published to establish an ideal therapeutic protocol. Since the majority of the trials involved a single institution and an open-label approach, reinforcing blinding and establishing multi-centered trials can improve the validity of the clinical trial results.
To provide the research strategy for protection of children's health from hazardous chemical, we reviewed the hazardous chemicals can be exposed through maternity, children's life style and living environment. Recently, diseases related with children's living condition were focused as asthma, atopy, childhood developmental disability, congenital malformations and obesity. Children can be exposed to hazardous chemicals through an ambient air, water, soil, food, toys and other factors such as floor dust. Also children's health was deeply related with a wrong life style and neglectful caring by a lack of knowledge and information of harmful ones at parents and child care center's nursers. According to the previous study, the chemical risk factor of children's health were identified as inorganic arsenic, bisphenol A, 2,4-D, dichlorvos, methylmercury, PCBs, pesticide, phthalates, PFOA/PFOS, vinyl chloride, et al. Domestic studies for identification of causality between children exposure to chemicals and resulted hazardous effects were not implemented. The confirmation of chemical risk factors through simultaneously performing toxicological analysis, human effect study, environmental/human monitoring, and risk assessment is needed for good risk management. And also, inter-agency collaboration and sharing information can support confirming scientific evidence and good decision making.
The process of physical therapy uses a problem-solving approach to enhance a patients's functioning status. The International Classification of Functioning, Disability and Health(ICF) is the common concept for the functioning in the world. Physical therapists require the ability to identify problems, formulate hypothesis, and plan intervention strategies through clinical reasoning. In the clinical process, physical therapists need to use standard and common languages in speech and in documentation. The purpose of this study was to suggest the process of making strategy for efficient intervention, examining and evaluating the functional problem of the person with stroke using ICF tools. For the first step in this process model, therapists could list the information relating to functional problems used by the ICF Core set and then could identify the interaction among the problems using the ICF assessment sheet. For the next step, therapist is needed to make the hypothesis and hypothesis testing, and then set a primary functional goals and therapeutic goals in detail after prioritizing the problems to be managed based on the problem list. Finally, after setting the identified problems as the purpose of intervention through the hypothesis testing, therapist could do some intervention after making a plan to solve these problems, and find out the outcomes using the ICF evaluation display. This report illustrates how to apply the process based on ICF concept into physical therapy practice. Making a decision for the most efficient intervention requires that therapists use the clinical reasoning process based on ICF concept.
Guerreiro, Marisa M.;Serranheira, Florentino;Cruz, Eduardo B.;Sousa-Uva, Antonio
Safety and Health at Work
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v.11
no.4
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pp.491-499
/
2020
Background: Assembly lines work is frequently associated to work-related upper limb musculoskeletal disorders. The related disability and absenteeism make it important to implement efficient health surveillance systems. The main objective of this study was to identify self-reported variables that can determine work-related upper limb musculoskeletal symptoms-discomfort/pain-during a 6-month follow-up. Methods: This was a prospective study with a 6-month follow-up period, performed in an assembly line. Upper limb musculoskeletal discomfort/pain was assessed through the presence of self-reported symptoms. Uni- and multivariate logistic regression analyses were used to evaluate which self-reported variables were associated to upper limb symptoms after 6 months at the present and to upper limbs symptoms in the past month. Results: Of the 200 workers at baseline, 145 replied to the survey after 6 months. For both outcomes, "having upper limb symptoms during the previous 6 months" and "education" were possible predictors. Conclusion: Our results suggest that having previous upper limb symptoms was related to its maintenance after 6 months, sustaining it as a specific determinant. It can be a hypothesis that this population had mainly workers with chronic symptoms, although our results give only limited support to self-reported indicators as determinants for upper limb symptoms. Nevertheless, the development of an efficient health surveillance system for high demanding jobs should implicate self-reported indicators, but also clinical and work conditions assessment should be accounted on the future.
Zeglinski-Spinney, Amy;Wai, Denise C.;Phan, Philippe;Tsai, Eve C.;Stratton, Alexandra;Kingwell, Stephen P.;Roffey, Darren M.;Wai, Eugene K.
Journal of Preventive Medicine and Public Health
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v.51
no.5
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pp.227-233
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2018
Objectives: Chronic diseases, including back pain, result in significant patient morbidity and societal burden. Overall improvement in physical fitness is recommended for prevention and treatment. Walking is a convenient modality for achieving initial gains. Our objective was to determine whether neighbourhood walkability, acting as a surrogate measure of physical fitness, was associated with the presence of chronic disease. Methods: We conducted a cross-sectional study of prospectively collected data from a prior randomized cohort study of 227 patients referred for tertiary assessment of chronic back pain in Ottawa, ON, Canada. The Charlson Comorbidity Index (CCI) was calculated from patient-completed questionnaires and medical record review. Using patients' postal codes, neighbourhood walkability was determined using the Walk Score, which awards points based on the distance to the closest amenities, yielding a score from 0 to 100 (0-50: car-dependent; 50-100: walkable). Results: Based on the Walk Score, 134 patients lived in car-dependent neighborhoods and 93 lived in walkable neighborhoods. A multivariate logistic regression model, adjusted for age, gender, rural postal code, body mass index, smoking, median household income, percent employment, pain, and disability, demonstrated an adjusted odds ratio of 2.75 (95% confidence interval, 1.16 to 6.53) times higher prevalence for having a chronic disease for patients living in a car-dependent neighborhood. There was also a significant dose-related association (p=0.01; Mantel-Haenszel chi-square=6.4) between living in car-dependent neighbourhoods and more severe CCI scores. Conclusions: Our findings suggest that advocating for improved neighbourhood planning to permit greater walkability may help offset the burden of chronic disease.
Purpose: This study was examined to improve the standing posture of a scoliosis client using the ICF Tool. Methods: For examination, the study subject was a 16-year-old female student diagnosed with 3curve-pelvic (3CP) type scoliosis. Information about her were collected through a client interview and based on international Classification of Functioning, Disability and Health (ICF). The ICF core set was for post-acute musculoskeletal conditions, and the ICF level 2 items suggested by National Rehabilitation Information Center (NARIC) were added to the recommendations for scoliosis. For evaluation, the ICF assessment sheet was used to identify the interaction among the problems. For the diagnosis, the client's functional problems were described in ICF terms. For the prognosis, the global goals for reaching the client's functional activity and participation level were presented as the long-and short-term goals. For the intervention, a coordinative locomotor training program composed of warm-up, main exercise, and cool-down was applied 3 times a week, 50 minutes a day, for 5 weeks. For the outcome, the differences between before and after the intervention were compared with the ICF qualifier and are shown with the ICF evaluation display. Results: Clinical advantages were observed in body function and structure (7° decrease of thoracic angle, 7 score increase of trunk muscle power, 6.47s improve of one leg standing, 4 score decrease of neck pain). The activity for maintaining the standing posture, in which the client had a primary limitation, was improved. Conclusion: Applying the coordinative locomotor training program is expected to improve scoliosis client's standing posture.
General finger splint manufactured and sold domestically could have been of great help to patients with disabilities due to damage to the body's. However, it reminded the wearer of his disability that he wanted to hide. This has had a negative effect on the psychological side of self-absorption and depression. If this avoids or rejects wearing, the role of ancillary rehabilitation is lost. This does not meet the user's requirements. Thus, in this study, 3D printing was used to better reflect user requirements. Next, the study examined existing prior studies to identify the characteristics and criteria of each study. It also examined medical finger aids that were being sold in the auxiliary device market. The assessment criteria were derived by compiling and interpreting user surveys of each finger splint device. Based on the evaluation criteria derived, the design guidelines for finger splint were presented using FDM-style 3D printers. Finally, we proposed a finger splint design according to the proposed design guideline.
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