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1.
J Am Geriatr Soc ; 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38863338

ABSTRACT

BACKGROUND: Relationships of midlife inflammation with late-life mobility and influences of chronic health conditions, race, and social determinants of health (SDoH) on these relationships are poorly understood. METHODS: Among 4758 community-dwelling participants (41% men, 20% Black), high-sensitivity C-reactive protein (hsCRP) was measured over 20+ years: in midlife at study visit 2 (V2: 1990-1992, 47-68 years); at V4 (1996-1998, 53-74 years); and with concurrent late-life 4-m gait speed at V5 (2011-2013, 67-88 years, mean 75 years). SDoH measures included race, the national-rank area deprivation index, education, and income. We examined associations of late-life gait speed with midlife hsCRP (V2 continuous and clinically high ≥3 mg/L), with 20-year hsCRP history from midlife (V2-V5 average continuous hsCRP and clinically high ≥3 mg/L) and with inflammation accumulation (visits and years with high hsCRP). Regression models adjusted for demographic, cardiovascular, and SDoH measures; effect modification by the presence of other common chronic conditions (obesity, diabetes, hypertension) and race were examined, with and without accounting for SDoH. RESULTS: High midlife hsCRP was associated with slower late-life gait speed, even among those without chronic conditions in midlife: -4.6 cm/s (95% CI: -6.4, -2.8). Importantly, sustained high hsCRP was associated with a 20-year slowing of -10.0 cm/s (-14.9, -5.1) among those who never experienced obesity, diabetes, or hypertension over the 20-year period. Associations were similar between Black participants, -3.8 cm/s (-6.9, -0.7) and White participants -3.3 (-4.5, -2.2) per interquartile range of midlife hsCRP; effect modifications by chronic conditions and race were unsupported throughout. Results were robust to accounting for SDoH or otherwise; however, worse SDoH was associated with higher inflammation and slower gait speed in both Black and White participants. CONCLUSIONS: Inflammation in midlife may contribute to clinically meaningful late-life slowing of gait speed, even among otherwise healthy-appearing adults and regardless of race and socioeconomic disadvantage. Regular monitoring and interventions for inflammation may be warranted from midlife.

2.
Trials ; 25(1): 386, 2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38886851

ABSTRACT

BACKGROUND: Liver disease is the third leading cause of premature death in the UK. Transplantation is the only successful treatment for end-stage liver disease but is limited by a shortage of suitable donor organs. As a result, up to 20% of patients on liver transplant waiting lists die before receiving a transplant. A third of donated livers are not suitable for transplant, often due to steatosis. Hepatic steatosis, which affects 33% of the UK population, is strongly associated with obesity, an increasing problem in the potential donor pool. We have recently tested defatting interventions during normothermic machine perfusion (NMP) in discarded steatotic human livers that were not transplanted. A combination of therapies including forskolin (NKH477) and L-carnitine to defat liver cells and lipoprotein apheresis filtration were investigated. These interventions resulted in functional improvement during perfusion and reduced the intrahepatocellular triglyceride (IHTG) content. We hypothesise that defatting during NMP will allow more steatotic livers to be transplanted with improved outcomes. METHODS: In the proposed multi-centre clinical trial, we will randomly assign 60 livers from donors with a high-risk of hepatic steatosis to either NMP alone or NMP with defatting interventions. We aim to test the safety and feasibility of the defatting intervention and will explore efficacy by comparing ex-situ and post-reperfusion liver function between the groups. The primary endpoint will be the proportion of livers that achieve predefined functional criteria during perfusion which indicate potential suitability for transplantation. These criteria reflect hepatic metabolism and injury and include lactate clearance, perfusate pH, glucose metabolism, bile composition, vascular flows and transaminase levels. Clinical secondary endpoints will include proportion of livers transplanted in the two arms, graft function; cell-free DNA (cfDNA) at follow-up visits; patient and graft survival; hospital and ITU stay; evidence of ischemia-reperfusion injury (IRI); non-anastomotic biliary strictures and recurrence of steatosis (determined on MRI at 6 months). DISCUSSION: This study explores ex-situ pharmacological optimisation of steatotic donor livers during NMP. If the intervention proves effective, it will allow the safe transplantation of livers that are currently very likely to be discarded, thereby reducing waiting list deaths. TRIAL REGISTRATION: ISRCTN ISRCTN14957538. Registered in October 2022.


Subject(s)
Fatty Liver , Liver Transplantation , Perfusion , Randomized Controlled Trials as Topic , Humans , Liver Transplantation/methods , Perfusion/methods , Fatty Liver/therapy , Tissue Donors/supply & distribution , Liver/pathology , Multicenter Studies as Topic , Organ Preservation/methods , Time Factors , Treatment Outcome
3.
J Autism Dev Disord ; 2024 May 25.
Article in English | MEDLINE | ID: mdl-38795288

ABSTRACT

PURPOSE: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and MECP2 variant subtypes. METHODS: Conducted as a cross-sectional retrospective observational study, the research encompassed 55 patients meeting clinical RTT criteria and holding MECP2 mutations. A review of clinical records was performed to gather demographic data, mutation subtypes, orthopedic conditions, management strategies, and assessments of function. RESULTS: Mean age of the participants was 10.22 ± 4.64 years (range, 2.9-19.41). Prevalence rates of orthopedic conditions were as follows: kyphoscoliosis 63.6%, hip displacement 14.6%, knee problems 40%, and foot deformities 75.5%. Significant relationship emerged between spinal (p < 0.01) and knee deformities (p < 0.01) with reduced motor function across various domains. Hip displacement significantly affected sitting ability (p = 0.002), and foot deformities impacted standing and walking capabilities (p = 0.049). Mutation clusters analysis revealed significant correlations with spinal (p = 0.022) and knee deformities (p = 0.002). Linear models highlighted the critical importance of mutation clusters, spine deformities, age, and hip management concerning functional variables. CONCLUSIONS: In this study, foot deformities were the most frequent orthopedic manifestation, followed by spinal, knee, and hip deformities; and unveiled their relationships with functional status and groups of mutations in RTT patients. LEVEL OF EVIDENCE: Level IV, Case series.

4.
BMC Geriatr ; 24(1): 446, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38773403

ABSTRACT

BACKGROUND: Sarcopenic obesity (SO) in nursing home residents is rarely studied. We aimed to evaluate and compare the prevalence and consistency of different SO diagnostic methods and to investigate which criterion demonstrated a stronger association with instrumental activities of daily living (IADL) disability. METHODS: We consecutively recruited older adults aged ≥ 60 years, residing in 15 nursing homes in Zigong City, China. Sarcopenia obesity was defined according to the European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity criteria (SOESPEN), recommending skeletal muscle mass (SMM) adjusted by body weight (SMM/W) to identify low muscle mass. Further, we adapted ESPEN criteria (SOESPEN-M) by employing SMM adjusted by body mass index (SMM/BMI). RESULTS: We included 832 participants (median age 73.0 years, 296 women). The prevalence of SOESPEN and SOESPEN-M was 43.5% and 45.3%, respectively. SOESPEN showed good consistency with SOESPEN-M (Cohen's kappa = 0.759). More than one-third of participants in the normal weight group were diagnosed with SOESPEN or SOESPEN-M. Even within the underweight group, the prevalence of SOESPEN and SOESPEN-M was 8.9% and 22.2%, respectively. Participants with IADL disability had significantly lower SMM/W and SMM/BMI, but higher fat mass percentage of body weight (FM%) than participants without IADL disability. After full adjustment for potential confounders, SOESPEN-M (OR 1.68, 95% CI 1.21 to 2.32), but not SOESPEN (OR 1.28, 95% CI 0.93 to 1.75), remained significantly associated with IADL disability. CONCLUSIONS: Both SOESPEN and SOESPEN-M showed a high prevalence among nursing home residents, even among individuals with underweight or normal weight. While SOESPEN had a good consistency with SOESPEN-M, only SOESPEN-M was independently associated with IADL disability. Screening and diagnosis of SO should be conducted in nursing home residents irrespective of BMI.


Subject(s)
Activities of Daily Living , Nursing Homes , Obesity , Sarcopenia , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Body Mass Index , China/epidemiology , Cross-Sectional Studies , Geriatric Assessment/methods , Obesity/epidemiology , Obesity/diagnosis , Prevalence , Sarcopenia/epidemiology , Sarcopenia/diagnosis
5.
Int J Cardiol ; 409: 132199, 2024 Aug 15.
Article in English | MEDLINE | ID: mdl-38782068

ABSTRACT

BACKGROUND: Despite prompt reperfusion, the risk of adverse clinical outcomes following ST-segment-elevation myocardial infarction (STEMI) remains pronounced, owing partly to suboptimal reperfusion. However, coronary functional evaluation is seldom feasible during primary percutaneous coronary intervention (PPCI). We aimed to examine the clinical implication of a simple coronary assessment based on single-angiographic view (µQFR) during PPCI in discriminating impaired coronary flow and adverse outcomes for STEMI. METHODS: STEMI Patients undergoing successful PPCI were enrolled and followed up prospectively from 4 medical centers in China. Post-PPCI µQFR of culprit vessels were analyzed. The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiac death, non-fatal MI, ischemia-driven target-vessel revascularization and readmission for heart failure. RESULTS: A total of 570 patients with STEMI were enrolled, and post-PCI µQFR was analyzable in 557 (97.7%) patients, with a median of 0.94. Patients with low post-PCI µQFR showed higher incidence of adverse outcomes than those with high µQFR, showing a 2.5-fold increase in the risk for MACE (hazard ratio: 2.51, 95% confidence intervals: 1.33 to 4.72; P = 0.004). Moreover, post-PCI µQFR significantly increased discriminant ability for the occurrence of MACE when added to traditional GRACE risk score for STEMI (integrated discrimination improvement: 0.029; net reclassification index: 0.229; P < 0.05). CONCLUSIONS: A low µQFR of culprit vessel in PPCI is independently associated with worse clinical outcomes in patients with STEMI. The single-angiographic-view-based coronary evaluation is a feasible tool for discriminating poor prognosis and could serve as a valuable complement in risk stratification for STEMI.


Subject(s)
Coronary Angiography , Percutaneous Coronary Intervention , ST Elevation Myocardial Infarction , Humans , ST Elevation Myocardial Infarction/surgery , ST Elevation Myocardial Infarction/diagnostic imaging , ST Elevation Myocardial Infarction/physiopathology , ST Elevation Myocardial Infarction/mortality , ST Elevation Myocardial Infarction/diagnosis , Male , Female , Percutaneous Coronary Intervention/methods , Middle Aged , Aged , Prognosis , Prospective Studies , Coronary Angiography/methods , Follow-Up Studies , Coronary Circulation/physiology , Coronary Vessels/diagnostic imaging , Coronary Vessels/physiopathology , Time Factors , China/epidemiology
6.
J Appl Behav Anal ; 2024 May 28.
Article in English | MEDLINE | ID: mdl-38804601

ABSTRACT

There are several considerations to address when conducting functional communication training for challenging behavior in a school setting, such as the need for schedule thinning and maintenance across staff and the need to establish a variety of appropriate classroom skills. There are several strategies for conducting schedule thinning following functional communication training and for transferring effects across people or settings. However, there are few examples of these processes in natural settings with relevant caregivers and with long-term maintenance of effects. We implemented a functional assessment and skill-based treatment process with six children with autism in a specialized school setting and extended treatment until challenging behavior was reduced to near-zero levels across multiple staff and settings. Follow-up data indicate that effects were still observed 1 year posttreatment and the use of crisis procedures (e.g., physical restraint) was eliminated for all participants.

7.
J Clin Med ; 13(8)2024 Apr 12.
Article in English | MEDLINE | ID: mdl-38673515

ABSTRACT

The fractional flow reserve (FFR) is well recognized as a gold standard measure for the estimation of functional coronary stenosis. Technological progressions in image processing have empowered the reconstruction of three-dimensional models of the coronary arteries via both non-invasive and invasive imaging modalities. The application of computational fluid dynamics (CFD) techniques to coronary 3D anatomical models allows the virtual evaluation of the hemodynamic significance of a coronary lesion with high diagnostic accuracy. METHODS: Search of the bibliographic database for articles published from 2011 to 2023 using the following search terms: invasive FFR and non-invasive FFR. Pooled analysis of the sensitivity and specificity, with the corresponding confidence intervals from 32% to 94%. In addition, the summary processing times were determined. RESULTS: In total, 24 studies published between 2011 and 2023 were included, with a total of 13,591 patients and 3345 vessels. The diagnostic accuracy of the invasive and non-invasive techniques at the per-patient level was 89% (95% CI, 85-92%) and 76% (95% CI, 61-80%), respectively, while on the per-vessel basis, it was 92% (95% CI, 82-88%) and 81% (95% CI, 75-87%), respectively. CONCLUSION: These opportunities providing hemodynamic information based on anatomy have given rise to a new era of functional angiography and coronary imaging. However, further validations are needed to overcome several scientific and computational challenges before these methods are applied in everyday clinical practice.

8.
Sensors (Basel) ; 24(7)2024 Mar 29.
Article in English | MEDLINE | ID: mdl-38610427

ABSTRACT

Flexibility in performing various movements like standing, walking, and turning is crucial for navigating dynamic environments in daily life. Individuals with essential tremor often experience movement difficulties that can affect these postural transitions, limiting mobility and independence. Yet, little research has examined the performance of postural transitions in people with essential tremor. Therefore, we assessed postural transition performance using two versions of the timed up and go test: the standard version and a more complex water-carry version. We examined the total duration of the standard and water-carry timed up and go in 15 people with and 15 people without essential tremor. We also compared the time taken for each phase (sit-to-stand phase, straight-line walk phase, stand-to-sit phase) and the turning velocity between groups. Our findings revealed decreased performance across all phases of standard and water-carry timed up and go assessments. Further, both ET and non-ET groups exhibited reduced performance during the water-carry timed up and go compared to the standard timed up and go. Evaluating specific phases of the timed up and go offers valuable insights into functional movement performance in essential tremor, permitting more tailored therapeutic interventions to improve functional performance during activities of daily living.


Subject(s)
Essential Tremor , Humans , Activities of Daily Living , Postural Balance , Time and Motion Studies , Water
9.
Nutrients ; 16(7)2024 Mar 28.
Article in English | MEDLINE | ID: mdl-38613025

ABSTRACT

Oral function evaluation in older adults with dementia is important for determining appropriate and practical dietary support plans; however, it can be challenging due to their difficulties in comprehending instructions and cooperating during assessments. The feasibility of oral function evaluation has not been well studied. This cross-sectional study aimed to determine the feasibility of oral function evaluation in older adults with Alzheimer's disease (AD) according to Functional Assessment Staging of Alzheimer's Disease (FAST) stages. In total, 428 older adults with AD (45 men and 383 women; mean age: 87.2 ± 6.2 years) were included. Multilevel logistic regression models were used to examine the prevalence of participants who were unable to perform oral function evaluations, including oral diadochokinesis (ODK), repeated saliva swallow test (RSST), and modified water swallow test (MWST). In comparison to the reference category (combined FAST stage 1-3), FAST stage 7 was associated with the infeasibility of ODK (adjusted odds ratio, 95% confidence interval = 26.7, 4.2-168.6), RSST (5.9, 2.2-16.1), and MWST (8.7, 1.6-48.5, respectively). Oral function evaluation is difficult in older adults with severe AD. Simpler and more practical swallowing function assessments and indicators that can be routinely observed are required.


Subject(s)
Alzheimer Disease , Male , Humans , Female , Aged , Aged, 80 and over , Alzheimer Disease/diagnosis , Cross-Sectional Studies , Feasibility Studies , Deglutition , Multilevel Analysis , Water
10.
Eur Urol Oncol ; 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38688766

ABSTRACT

BACKGROUND: Chemohormonal therapy with androgen deprivation therapy and docetaxel (ADT + D) improves overall survival (OS) and quality of life (QOL) at 12 mo versus androgen deprivation therapy (ADT) alone in men with metastatic hormone-sensitive prostate cancer (mHSPC). However, the prognostic role of QOL is unknown in this population. OBJECTIVE: To study the relationship between QOL, disease characteristics, and OS in men with mHSPC. DESIGN, SETTING, AND PARTICIPANTS: In this exploratory post hoc analysis, 790 patients with mHSPC completed the QOL instruments Functional Assessment of Cancer Therapy-Prostate (FACT-P), Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F), and Brief Pain Inventory (BPI). OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Log-rank test and Cox proportional hazard models tested the association between QOL and OS by clinical and disease characteristics. RESULTS AND LIMITATIONS: Baseline higher FACT-P trended toward improved survival after accounting for clinical variables (hazard ratio [HR] 0.80 [0.62, 1.04], p = 0.09), while higher 3-mo FACT-P was independently associated with better survival (HR 0.76 [0.58, 1.0], p = 0.05). Patients with the poorest QOL (bottom quartile) at baseline and 3 mo had longer survival if they received ADT + D rather than ADT alone (median OS 45.2 vs 34.4 mo, HR 0.75 [0.53, 1.05], p = 0.09, and 48.3 vs 29.3 mo, HR 0.69 [0.48, 0.99], p = 0.05 respectively). In contrast, patients with the best QOL (top quartile) at baseline and 3 mo had comparable survival irrespective of whether or not docetaxel was added (median OS 72.1 vs 51.7 mo, HR 0.92 [0.63, 1.36], p = 0.69, and 69.9 vs 68.9 mo, HR 1.11 [0.73, 1.67], p = 0.63, respectively). Survival was linked with baseline FACIT-F (HR 0.76 [0.57, 1.0], p = 0.05), but not BPI (HR 0.98 [0.75, 1.28], p = 0.90). CONCLUSIONS: Three-month QOL had a stronger independent association with survival. The most symptomatic patients had longer survival with the addition of docetaxel; conversely, the least symptomatic patients did not appear to benefit. Consideration of QOL may enhance decision-making and patient selection when choosing chemohormonal treatment in mHSPC. PATIENT SUMMARY: Quality of life independently forecasted the survival of men with metastatic hormone-sensitive prostate cancer in the CHAARTED study. Close tracking of quality of life could help patients and clinicians make decisions about the appropriate treatment in this setting.

11.
J Exp Anal Behav ; 121(3): 346-357, 2024 May.
Article in English | MEDLINE | ID: mdl-38604980

ABSTRACT

Efficient methods for assessing the relative aversiveness of stimuli are sparse and underresearched. Having access to efficient procedures that can identify aversive stimuli would benefit researchers and practitioners alike. Across three experiments, 13 participants helped to pilot, refine, and test two approaches to identifying negative reinforcers. The first experiment presented two conditions, one in which computerized button pressing started or stopped one of two recorded infant cries (or silence, when the control button was selected). Choices were presented either in a modified observing-response procedure (i.e., simultaneous observing) or in a modified progressive-ratio procedure (i.e., committed concurrent progressive ratio; CCPR). Results were favorable though not conclusive on their own. A second experiment, using more distinct stimuli (i.e., one likely aversive, one likely not aversive), replicated the first, and clearer results emerged. Finally, the third experiment tested the stimuli from the second experiment in a CCPR arrangement where sound was terminated contingent on responding and idiosyncratic negative reinforcement hierarchies emerged. The utility of these two procedures is discussed, and future work that addresses the limitations is outlined.


Subject(s)
Reinforcement, Psychology , Humans , Male , Female , Reinforcement Schedule , Adult , Conditioning, Operant , Choice Behavior , Young Adult
12.
Physiother Res Int ; 29(2): e2079, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38477078

ABSTRACT

OBJECTIVE: To investigate the effects of unilateral upper limbs' (ULM) neuromuscular electrical stimulation (NMES) superimposed on a voluntary contraction added to a protocol of intradialytic leg cycle ergometer exercise on muscle strength, functional capacity and quality of life of adult patients with chronic kidney disease (CKD). METHODS: This randomized controlled clinical trial will be carried out at a Brazilian University Hospital. The patients will be evaluated and randomly allocated to an intervention group (i.e., unilateral NMES on the upper limb without hemodialysis fistula for 20 min and leg cycle ergometer for 30 min) or a control group (i.e., unilateral NMES-Sham on the upper limb without hemodialysis fistula for 20 min and leg cycle ergometer for 30 min). The patients will be treated for 8 weeks, with three weekly treatment sessions totaling 24 sessions. MEASUREMENTS: ULM muscle strength, functional capacity, quality of life and also the feasibility, safety and patient adherence to the exercise protocol. All physical measurements will be collected by trained researchers before treatment (week 0) and at the end of treatment (week 9), always in the second hemodialysis session of the week. It will be used in an intention-to-treat analysis. RESULTS/CONCLUSIONS: The outcomes of this clinical trial protocol may help to know the possible benefits of unilateral ULM' NMES superimposed on a voluntary contraction added to a protocol of leg cycle ergometer for patients with CKD and to aid clinical decisions about future implementation or not of this technique (NMES) in intradialytic physical training programs.


Subject(s)
Electric Stimulation Therapy , Fistula , Renal Insufficiency, Chronic , Adult , Humans , Quality of Life , Leg , Muscle Strength/physiology , Electric Stimulation Therapy/methods , Electric Stimulation , Upper Extremity , Randomized Controlled Trials as Topic
13.
Cureus ; 16(2): e54208, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38496073

ABSTRACT

Acoustic neuroma excision in patients with cerebellopontine angle (CPA) tumours offers particular rehabilitation problems due to the complicated architecture of the cerebellum and brainstem tissues involved. CPA tumours (acoustic neuromas) are slow-growing tumours that arise from the vestibulocochlear nerve. Surgical excision of these tumours can cause neurological abnormalities that compromise motor coordination, balance, and facial nerve function. The case study emphasises the importance of a comprehensive physiotherapeutic approach in rehabilitating a patient following acoustic neuroma excision, with a focus on particular CPA tumour deficits. The rehabilitation programme focuses on improving functional outcomes through balance, proprioception, and vestibular rehabilitation that is customised to the demands and deficiencies of the patient. Our comprehensive approach seeks to improve patients' quality of life, promote neurological healing, and support easy reintegration into normal activities following CPA tumour surgery.

14.
Cureus ; 16(1): e53267, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38435876

ABSTRACT

Background and objectives This study aims to introduce an innovative functional assessment tool designed for CrossFit athletes, to identify a high risk of injury at the shoulder joint. Additionally, the study seeks to examine both inter-rater reliability, which was tested in 40 CrossFit participants, and test-retest reliability, which was assessed in twenty subjects. Methodology CrossFit Functional Assessment Battery for the Shoulder Joint (CrossFit FABS) is a newly created instrument presented for the first time. The evaluation of the performance of its six items aimed to reveal deficits that could contribute to incidents of shoulder injuries. For this purpose, 40 healthy CrossFit participants were concurrently but independently examined by two raters, and twenty healthy adults active in sports were assessed by the main investigator at two different time points. Cohen's kappa coefficient was used to analyze categorical data with an ordinal structure. Results Inter-rater reliability ranged from 0.824 to 1 (P = 0.000) and test-retest reliability was 0.661 to 0.906 (P < 0.001) for each test of CrossFit FABS. A strong to almost perfect correlation was demonstrated for all the variables between the two examiners. Moderate to almost perfect correlation was shown through test-retest procedures. Conclusions The proposed test battery was established as a reliable tool for evaluating performance routines that represent high injury-risk elements for the shoulder joint in CrossFit athletes.

15.
Mol Genet Genomic Med ; 12(3): e2401, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38444278

ABSTRACT

BACKGROUND: The MYH3-associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like pterygia and vertebrae fusion. CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B) is the only known autosomal recessiveMYH3-associated myosinopathy so far, with no more than two dozen cases being reported. MATERIALS AND METHODS: A boy with CPSKF1B was recruited and subjected to a comprehensive clinical and imaging evaluation. Genetic detection with whole-exome sequencing (WES) was performed on the patient and extended family members to identify the causative variation. A series of in silico and in vitro investigations were carried out to verify the pathogenicity of the two variants of the identified compound heterozygous variation. RESULTS: The patient exhibited moderate CPSKF1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected a compound heterozygous MYH3 variation consisting of two variants, namely NM_002470.4: c.3377A>G; p. (E1126G) and NM_002470.4: c.5161-2A>C. It was indicated that the NM_002470.4: c.3377A>G; p. (E1126G) variant mainly impaired the local hydrogen bond formation and impacted the TGF-B pathway, while the NM_002470.4: c.5161-2A>C variant could affect the normal splicing of pre-mRNA, resulting in the appearance of multiple abnormal transcripts. CONCLUSIONS: The findings of this study expanded the mutation spectrum of CPSKF1B, provided an important basis for the counseling of the affected family, and also laid a foundation for the functional study of MYH3 mutations.


Subject(s)
Arthrogryposis , Conjunctiva , Contracture , Pterygium , Humans , Male , Arthrogryposis/genetics , Conjunctiva/abnormalities , Contracture/genetics , Family
16.
BMC Geriatr ; 24(1): 239, 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38454354

ABSTRACT

BACKGROUND: There is currently a lack of functional assessment tools based on the International Classification of Functioning, Disability, and Health (ICF) theoretical framework that are specific for older adults. OBJECTIVE: The aim of the present study was to develop Chinese assessment standards of the ICF Geriatric Core Set for functional evaluation of older adults. METHODS: A two-stage study process was conducted to develop the assessment standards of the ICF Geriatric Core Set: establishment of candidate assessment standards, and a modified Delphi consensus process including a pilot survey and two-round formal expert survey. Thirty participants in the field of ICF and geriatric rehabilitation were recruited. The suitability of the assessment standards in the questionnaires was rated using a Likert 5-level scoring method. The arithmetic mean, the full mark ratio and the coefficient of variation (CV) were used as screening indicators for the assessment standards, and modification was made for several standards, in line with the Delphi results and the expert panel discussion. RESULTS: Thirty-three candidate assessment standards belonging to 17 categories were generated. A total of 26 and 24 experts in the field of ICF and geriatric rehabilitation participated in the two-round survey, respectively. Five standards belonging to four categories entered into the second-round survey directly, five standards belonged to five categories entered with minor modification, and nine standards belonging to seven categories were redesigned based on the literature and discussion of the expert panel. In the second-round survey,15 assessment standards belonging to 15 categories met the screening requirements and four assessment standards belonged to the two remaining categories that needed a criterion and which the expert panel discussed for the final decision. CONCLUSIONS: Using the modified Delphi method, the assessment standards of the ICF Geriatric Core Set have been developed.Future work should focus on the reliability and validity of the the assessment standards and their application to the health management of older adults.


Subject(s)
Disability Evaluation , Disabled Persons , Humans , Aged , Delphi Technique , Reproducibility of Results , Disabled Persons/rehabilitation , Surveys and Questionnaires , Activities of Daily Living , International Classification of Functioning, Disability and Health
17.
J Neuroeng Rehabil ; 21(1): 21, 2024 02 08.
Article in English | MEDLINE | ID: mdl-38331908

ABSTRACT

BACKGROUND: Lack of standardized assessments that explicitly quantify performance during prosthetic grip selection poses difficulty determining whether efforts to improve the design of multi-grip hands and their control approaches are successful. In this study, we developed and validated a novel assessment of multi-grip prosthetic performance: The Coffee Task. METHODS: Individuals without limb loss completed the Box and Block Test and two versions of the Coffee Task - Continuous and Segmented - with a myoelectric prosthetic emulator. On different days, participants selected prosthetic grips using pattern recognition and trigger control. Outcomes of the Continuous and Segmented Coffee Task were completion time and number of errors, respectively. Two independent raters assessed outcomes of the Coffee Task using video recordings to determine inter-rater reliability. Known-group validity was assessed by comparing outcomes with the emulator to those with an intact limb. Convergent validity was assessed through the correlation of the Coffee Task outcomes and those of the Box and Blocks Test. Responsiveness to changes with practice and control approach were assessed using the standardized response mean (SRM). RESULTS: Inter-rater reliability was high for both versions of the Coffee Task (Intra-class coefficient > 0.981). Coffee Task outcomes were moderately correlated with the Box and Blocks outcomes (|r| ≥ 0.412, p ≤ 0.007). Participants completed the Coffee Task faster with their intact limb than with the emulator (p < 0.001). Both versions of the Coffee Task were responsive to changes with training (SRM ≥ 0.81) but not control approach (SRM ≤ 0.12). CONCLUSIONS: The Coffee Task is reliable, has good known-group and convergent validity, and is responsive to changes due to practice. Future work should assess whether the Coffee Task is feasible and reliable for people with upper limb loss who use multi-grip prostheses.


Subject(s)
Artificial Limbs , Coffee , Humans , Reproducibility of Results , Upper Extremity , Hand Strength
18.
Rev Esp Geriatr Gerontol ; 59(3): 101476, 2024.
Article in Spanish | MEDLINE | ID: mdl-38417197

ABSTRACT

INTRODUCTION: Functional capacity is a good indicator of health, quality of life, and a good predictor of morbimortality. It is a priority to functionally assess the geriatric population through objective, precise, and simple instruments. The Alusti Test in its two versions, complete (TA) and abbreviated (TAA), is a scale that meets these criteria. OBJECTIVE: To determine the usefulness of the Alusti Test as a predictor of adverse health events: falls, hospitalizations, cognitive deterioration, and mortality in the elderly institutionalized population, with a two-year follow-up. MATERIAL AND METHODS: This observational study's sample included 176 persons admitted to a nursing home for 32months, with a mean age of 85.5years. The TA was performed on 138 and the TAA on 38. RESULTS: The ratio of falls is much higher in residents with mild dependence than in those with total dependence (P<.001). Hospitalizations increase as the results of the Alusti Test are more favorable. The risk of hospitalization in dependent patients is 50% lower (P<.001) than in those with preserved mobility. Cognitive impairment is similar in all the populations with some mild-moderate level of functional dependence and decreases in the population with preserved mobility. Categorization as total and mild/severe dependence is related to a 3-4times higher mortality at six months follow-up. CONCLUSIONS: A higher mild-moderate level of dependence on the AT correlates with a lower risk of falls, a lower rate of hospitalization, and a higher risk of mortality at six months.


Subject(s)
Accidental Falls , Geriatric Assessment , Hospitalization , Nursing Homes , Humans , Male , Female , Aged, 80 and over , Follow-Up Studies , Accidental Falls/statistics & numerical data , Aged , Time Factors , Homes for the Aged , Cognitive Dysfunction/epidemiology , Cognitive Dysfunction/diagnosis
19.
Braz J Phys Ther ; 28(1): 100576, 2024.
Article in English | MEDLINE | ID: mdl-38217948

ABSTRACT

BACKGROUND: Hospitalization contributes to functional decline in older adults. OBJECTIVE: To assess the relationship between physical performance on admission and functional capacity and functional capacity decline at discharge, and to investigate tools capable of predicting this decline. METHODS: Prospective longitudinal study with 75 older adults admitted to a public hospital between July 2021 and February 2022. The independent variable was physical performance evaluated on admission by handgrip strength (HGS) and the Short Physical Performance Battery (SPPB). The dependent variables were functional capacity for basic activities of daily living (BADLs) and instrumental activities of daily living (IADLs) and their decline between admission and discharge. Statistical analyses were performed using linear and logistic regression and ROC curves. RESULTS: The median time between admission and participant assessment was 1 day (IQR=1-2 days). Median hospitalization time was 18 days (IQR= 7.5-30 days). Functional capacity for BADLs and IADLs declined in 39% and 79% of the participants, respectively. Performance in HGS and the SPPB at baseline, in adjusted models, explained 29.3 to 35.3% of functional capacity at discharge. One additional point in the SPPB decreased the risk of functional capacity decline for BADLs by 20.9% (OR=0.79, 95% CI: 0.68, 0.91). The AUC values for the SPPB (AUC=0.67) and HGS (AUC=0.65) were significant in identifying functional decline for BADLs, but not IADLs. CONCLUSION: In Brazilian older adults, physical performance on admission was related to functional capacity and its decline at discharge. Physical performance on admission is predictive of functional decline at discharge.


Subject(s)
Emergency Medical Services , Patient Discharge , Humans , Aged , Activities of Daily Living , Hand Strength , Prospective Studies , Brazil , Longitudinal Studies , Geriatric Assessment , Hospitalization
20.
Environ Monit Assess ; 196(2): 217, 2024 Jan 30.
Article in English | MEDLINE | ID: mdl-38286914

ABSTRACT

With loss of wetlands and their associated ecosystem services within landscapes, it is imperative to be able to understand the change in ecological functions underlying these services. Field-based functional assessments can produce a range of specific scores among a robust set of functions but are time and cost prohibitive as the number of wetlands assessed increases. Remote-based functional assessments are an alternative for broad scale assessments, but trade-off cost for limitations in scoring and functional assemblage. To address these concerns, we created a framework for the development of the Hydrogeomorphic Remote Assessment of Wetland Function (HGM-RAWF). Rooted in the hydrogeomorphic approach of an existing field-based functional assessment and its underlying models, this remote functional assessment substitutes field-based assessment methods with remotely assessed proxies. As potential remote proxies were determined through literature review and statistically screened for use in the remote assessment, a field-based reference wetland database of 222 freshwater wetlands in the Mid-Atlantic Region provided a baseline by which remote data could be compared and calibrated. The resulting HGM-RAWF protocol remotely assesses seven hydrology and biogeochemistry functions in the Mid-Atlantic with assessment scores similar to its field-based counterparts. With noted limitations, the HGM-RAWF framework provides the means to create desktop functional assessments across broad geographic scales with the diversity and specificity of field-based assessments at the reduced costs associated with remote assessments. Its basis in the HGM approach and use of public spatial datasets allows the framework to be adopted regionally and can be used as a model for national wetland functional assessment.


Subject(s)
Ecosystem , Wetlands , Environmental Monitoring/methods , Hydrology , Mid-Atlantic Region , Conservation of Natural Resources
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