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1.
Int J Sports Phys Ther ; 19(6): 670-680, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38835984

RESUMO

Background: While controversy remains as to the relative benefit of operative (OM) versus non-operative management (NOM) of Achilles tendon (AT) ruptures (ATR), few studies have examined the effect on high impact maneuvers such as jumping and hopping. Hypothesis/Purpose: The purpose of this study was to determine if functional performance including strength, jumping, and hopping outcomes differed between OM and NOM of acute ATR. The secondary objective was to assess the degree of association between AT morphology and performance outcomes. Study Design: Retrospective cohort with a single prospective evaluation. Methods: All patients were treated at an institutional secondary care center. Eligible participants (n=12 OM; 12 NOM) who were treated with OM or NOM of ATR within three weeks of injury were evaluated a minimum 20 months following ATR. AT length, thickness and gastrocnemius muscle thickness were assessed with B-mode ultrasound. Isokinetic plantar flexor strength, hop tests and countermovement and drop jumps were completed. Two-way ANOVAS were completed on all tests with unilateral values, independent t-tests were used for bilateral outcomes, and linear regressions were completed to assess the relationship between normalized AT length and performance. Results: Affected limb AT was elongated and thickened (p\<0.01), gastrocnemius was atrophied (p\< 0.01) and angle-specific plantar flexor torque was reduced at 120°/s when measured at 20° plantar flexion (p = 0.028). Single leg drop vertical jump was higher in OM (p = 0.015) with no difference for hop and jump tests. AT length was related to plantar flexor torque but had no relationship with hopping performance. Conclusions: Hop test performance was maintained despite plantarflexion weakness, gastrocnemius atrophy, and AT elongation. This may be the result of compensatory movement patterns. AT length holds limited explanatory power in plantar flexor strength, although this relationship should be evaluated further. Level of Evidence: Level III.

2.
Am J Med Genet A ; : e63790, 2024 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-38922739

RESUMO

A 7-month-old boy presented to our clinic with developmental delay, Magnetic Resonance Imaging (MRI) features of delayed myelination and diffusion restriction, and a homozygous variant of uncertain significance (c.4T>G, p.Phe2Val) in HIKESHI, a gene associated with autosomal-recessive hypomyelinating leukodystrophy 13. We hypothesized that the variant is disease-causing and aimed to rescue the cellular phenotype with vector-mediated gene replacement. HIKESHI mediates heat-induced nuclear accumulation of heat-shock proteins, including HSP70, to protect cells from stress. We generated skin fibroblasts from the proband and proband's mother (heterozygous) to compare protein expression and subcellular localization of HSP70 under heat stress conditions, and the effect of vector-mediated overexpression of HIKESHI in the proband's cells under the same heat stress conditions. Western blot analysis revealed absent HIKESHI protein from proband fibroblasts, contrasted with ample expression in parental cells. Under heat stress conditions, while the mother's cells displayed appropriate nuclear localization of HSP70, the proband's cells displayed impaired nuclear translocalization. When patient fibroblasts were provided exogenous HIKESHI, the transfected proband's cells showed restored heat-induced nuclear translocalization of HSP70 under conditions of heat stress. These functional data establish that the patient's variant is a pathogenic loss-of-function mutation, thus confirming a diagnosis of hypomyelinating leukodystrophy 13 and that vector-mediated gene replacement may be an effective treatment approach for patients with this disorder.

3.
Am Heart J Plus ; 42: 100391, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38680648

RESUMO

This article provides a summary of the clinical spectrum of no obstructive coronary arteries. We describe the pathologies, invasive and noninvasive assessment, and management strategies.

4.
Phys Ther Sport ; 67: 104-109, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38643732

RESUMO

OBJECTIVE: Assess inter- and intra-rater reliability of the Qualitative Analysis of Single Leg Squat (QASLS) during a single-leg triple hop landing in subjects following anterior cruciate ligament reconstruction (ACLR). Explore if differences in reliability existed between novice and experienced clinicians. Determine if QASLS scores differed between the surgical and nonsurgical limbs. DESIGN: Repeated Measures. PARTICIPANTS: 20 subjects ≥6 months post-ACLR. METHODS: Subjects were recorded performing a single-leg triple hop bilaterally. Videos were independently rated by five raters (2 physical therapists and 3 physical therapy students). Intraclass correlation coefficient (ICC) was calculated to measure reliability of the QASLS on the surgical limb. Wilcoxon signed-rank test was utilized to assess if differences in QASLS scores existed between limbs. RESULTS: The cumulative inter-rater reliability was moderate (ICC (2,1): 0.703) and the cumulative intra-rater reliability was good (ICC (3,1): 0.857). Little difference was found between experienced and novice raters for inter- and intra-rater reliability. There was no statistically significant difference in QASLS scores between limbs (P = 0.64). CONCLUSION: The QASLS tool offers moderate inter- and good intra-rater reliability for evaluating movement quality during a single-leg triple hop landing, irrespective of rater experience. Additionally, there was no observed difference in QASLS scores between surgical and nonsurgical limbs.


Assuntos
Reconstrução do Ligamento Cruzado Anterior , Movimento , Humanos , Reprodutibilidade dos Testes , Reconstrução do Ligamento Cruzado Anterior/reabilitação , Masculino , Feminino , Movimento/fisiologia , Adulto , Adulto Jovem , Lesões do Ligamento Cruzado Anterior/cirurgia , Lesões do Ligamento Cruzado Anterior/fisiopatologia , Fenômenos Biomecânicos , Teste de Esforço
5.
Shoulder Elbow ; 16(1 Suppl): 89-99, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38425736

RESUMO

Background: Functional testing has recently become more and more popular to assess athletes, both for injury prevention, as well as in an objective of performance. However, the relationship between the results of these tests and performances (or injuries) or their interpretation remains unclear. Objective: The aim of this study is to explore the usefulness, the characteristics, and the interpretation of the most frequently used upper-limb functional test. Methods: Twenty-two experts with an excellent knowledge of upper limb functional tests and an expertise in sports medicine and/or sports training of at least 5 years were recruited. They answered to qualitative and quantitative questions about functional testing trough structured questionnaires (online). Results: Four rounds were needed to reach a consensus about the usefulness as well as the characteristics of each test. Different sports-specific batteries of tests were also suggested by the experts and reached consensus. However, concerning the interpretation of the test, a consensus was only found for half of the tests considered. Conclusion: The current study summarizes the characteristics and the usefulness of the most popular upper-limb functional tests. However, the interpretation of some tests will have to be further explored since no consensus was found for them.

6.
J Clin Med ; 13(6)2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38541761

RESUMO

Background: The effectiveness of knee orthoses as part of conservative treatment for patients with medial knee osteoarthritis has not been fully explored. The purpose of this study was to evaluate the effects of a novel semi-rigid knee orthosis on pain, physical activity, and functional capacity. Methods: Pain levels, physical activity, and functional capacity were assessed in 24 participants experiencing symptomatic medial knee osteoarthritis one week before (i.e., pretest) initiating a six-week orthosis intervention and again during the final week of the intervention (i.e., post-test). Results: Night pain, pain during walking, pain during stair climbing, and pain during sitting consistently decreased by 41% to 48% while wearing the knee orthosis. Device-based measured physical activity showed a 20.2-min increase in vigorous physical activity during the post-test, while light and moderate physical activity did not show significant changes. After six weeks of orthosis application, there was a 5% increased distance for the six-minute walk test, and participants reported fewer limitations both in everyday and athletic activities, as well as an enhanced quality of life. Conclusions: These findings highlight the potential effectiveness of a semi-rigid knee orthosis to enhancing functional capacity and quality of life. More extensive and longer clinical trials are needed to improve confidence in these findings and understand their impact on disease progression.

7.
Sports Health ; 16(1): 139-148, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-36872596

RESUMO

BACKGROUND: Although anterior cruciate ligament (ACL) injury rates have been studied extensively, it is unclear whether levels of functional and psychological readiness for return-to-sport after primary ACL reconstruction (ACLR) differ based on an athlete's primary sport. HYPOTHESIS: Youth athletes in different primary sports will demonstrate differences in short-term functional recovery, as well as patient-reported psychological and functional recovery after primary ACLR. STUDY DESIGN: Retrospective cohort study of consecutive patients treated for ACL injury in pediatric sports medicine clinics. LEVEL OF EVIDENCE: Level 3. METHODS: Patients included underwent primary ACLR between December 1, 2015 and December 31, 2019 and reported sports participation at the time of injury. Demographic data, sports participation, surgical data, functional testing scores (Y-Balance Test [YBT]), functional and psychological patient-reported outcome measures (PROMs), and timing of return-to-play clearance were reviewed. YBT scores were the primary metric for clearance. Four groups were studied: soccer, football, basketball, and other. RESULTS: A total of 220 male and 223 female athletes were included; 65.28% of soccer players were female and 100% of football players were male (P < 0.01). At initial postoperative YBT testing (6-9 months), soccer players had higher operative (P < 0.01) and nonoperative (P < 0.01) leg composite scores when compared with basketball players. No significant differences were found between sports in functional or psychological PROMs at presurgical baseline or 6 months postoperatively. When compared with football, soccer players completed functional clearance in a shorter time from surgery (P = 0.02). Multivariate analysis showed level of competition as a significant independent variable for clearance in female athletes. CONCLUSION: After primary ACLR, athletes, especially female athletes, demonstrated short-term sport-specific differences in YBT scores. Soccer players attained clearance sooner than football players. Level of competition influenced YBT composite scores in all athletes and time to clearance in female athletes. CLINICAL RELEVANCE: Sport-specific differences in reinjury should be investigated to determine whether changes in return-to-play evaluation should be implemented.


Assuntos
Lesões do Ligamento Cruzado Anterior , Futebol , Criança , Humanos , Masculino , Adolescente , Feminino , Estudos Retrospectivos , Atletas , Volta ao Esporte/psicologia
8.
Sports Health ; 16(1): 47-57, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37434508

RESUMO

BACKGROUND: Lateral ankle sprain (LAS) is the most common sports-related injury. However, there are currently no published evidence-based criteria to guide the patient's return to sport (RTS) and this decision is generally time-based. The aim of this study was to assess the psychometric properties of a new score (Ankle-GO) and its predictive ability for RTS at the same level of play after LAS. HYPOTHESIS: The Ankle-GO is robust for discriminating and predicting RTS outcomes. STUDY DESIGN: Prospective diagnostic study. LEVEL OF EVIDENCE: Level 2. METHODS: The Ankle-GO was administered to 30 healthy participants and 64 patients at 2 and 4 months after LAS. The score was calculated as the sum of 6 tests for a maximum of 25 points. Construct validity, internal consistency, discriminant validity, and test-retest reliability were used to validate the score. The predictive value for the RTS was also validated based on the receiver operating characteristic (ROC) curve. RESULTS: The internal consistency of the score was good (Cronbach's alpha coefficient of 0.79) with no ceiling or floor effect. Test-retest reliability was excellent (intraclass coefficient correlation = 0.99) with a minimum detectable change of 1.2 points. The 2-month scores were significantly lower than 4-month and control group scores (7.7 ± 4, 13.9 ± 4.6, and 19.6 ± 3.4 points, respectively, P < 0.01). Ankle-GO values were also significantly higher in patients who returned to their preinjury level at 4 months compared with those who did not (P < 0.01). The predictive value of the 2-month Ankle-GO score was fair for a RTS at the same or higher than preinjury level at 4 months (area under ROC curve, 0.77; 95% CI, 0.65-0.89; P < 0.01). CONCLUSION: The Ankle-GO appears to be a valid and robust score for clinicians to predict and discriminate RTS in patients after LAS. CLINICAL RELEVANCE: Ankle-GO is the first objective score to help in the decision-making of the RTS after LAS. At 2 months, patients with an Ankle-GO score <8 points are unlikely to RTS at the same preinjury level.


Assuntos
Traumatismos do Tornozelo , Traumatismos em Atletas , Humanos , Volta ao Esporte , Tornozelo , Estudos Prospectivos , Reprodutibilidade dos Testes , Traumatismos em Atletas/diagnóstico , Traumatismos do Tornozelo/diagnóstico
9.
Hum Cell ; 37(1): 356-363, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37951844

RESUMO

Extraskeletal osteosarcoma (ESOS) is a rare malignant mesenchymal tumor that originates in the soft tissue. ESOS accounts for less than 1% of all soft tissue sarcomas and exhibits an aggressive behavior with a high propensity for local recurrence and distant metastasis. Despite advances in treatment, the prognosis for ESOS remains poor, with a five-year survival rate of less than 50% and 27% for metastatic patients. Ex vivo models derived from patient samples are critical tools for studying rare diseases with poor prognoses, such as ESOS, and identifying potential new treatment strategies. In this work, we established a novel ESOS ex vivo sarco-sphere model from a metastatic lesion to the dermis for research and functional testing purposes. The ex vivo cell model accurately recapitulated the native tumor, as evidenced by histomorphology and molecular profiles. Through a functional screening approach, we were able to identify novel individual anti-cancer drug sensitivities for different drugs such as romidepsin, miverbresib and to multiple kinase inhibitors. Overall, our new ESOS ex vivo cell model represents a valuable tool for investigating disease mechanisms and answering basic and translational research questions.


Assuntos
Neoplasias Ósseas , Osteossarcoma , Neoplasias de Tecidos Moles , Humanos , Osteossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Neoplasias Ósseas/patologia
10.
Small Methods ; 8(1): e2301009, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37882328

RESUMO

Basic and clinical cancer research requires tumor models that consistently recapitulate the characteristics of prima tumors. As ex vivo 3D cultures of patient tumor cells, patient-derived tumor organoids possess the biological properties of primary tumors and are therefore excellent preclinical models for cancer research. Patient-derived organoids can be established using primary tumor tissues, peripheral blood, pleural fluid, ascites, and other samples containing tumor cells. Circulating tumor cells acquired by non-invasive sampling feature dynamic circulation and high heterogeneity. Circulating tumor cell-derived organoids are prospective tools for the dynamic monitoring of tumor mutation evolution profiles because they reflect the heterogeneity of the original tumors to a certain extent. This review discusses the advantages and applications of patient-derived organoids. Meanwhile, this work highlights the biological functions of circulating tumor cells, the latest advancement in research of circulating tumor cell-derived organoids, and potential application and challenges of this technology.


Assuntos
Células Neoplásicas Circulantes , Humanos , Medicina de Precisão , Organoides/patologia
11.
Eur Spine J ; 33(4): 1320-1331, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38127138

RESUMO

OBJECTIVES: The five-repetition sit-to-stand (5R-STS) test was designed to capture objective functional impairment (OFI), and thus provides an adjunctive dimension in patient assessment. It is conceivable that there are different subsets of patients with OFI and degenerative lumbar disease. We aim to identify clusters of objectively functionally impaired individuals based on 5R-STS and unsupervised machine learning (ML). METHODS: Data from two prospective cohort studies on patients with surgery for degenerative lumbar disease and 5R-STS times of ≥ 10.5 s-indicating presence of OFI. K-means clustering-an unsupervised ML algorithm-was applied to identify clusters of OFI. Cluster hallmarks were then identified using descriptive and inferential statistical analyses. RESULTS: We included 173 patients (mean age [standard deviation]: 46.7 [12.7] years, 45% male) and identified three types of OFI. OFI Type 1 (57 pts., 32.9%), Type 2 (81 pts., 46.8%), and Type 3 (35 pts., 20.2%) exhibited mean 5R-STS test times of 14.0 (3.2), 14.5 (3.3), and 27.1 (4.4) seconds, respectively. The grades of OFI according to the validated baseline severity stratification of the 5R-STS increased significantly with each OFI type, as did extreme anxiety and depression symptoms, issues with mobility and daily activities. Types 1 and 2 are characterized by mild to moderate OFI-with female gender, lower body mass index, and less smokers as Type I hallmarks. CONCLUSIONS: Unsupervised learning techniques identified three distinct clusters of patients with OFI that may represent a more holistic clinical classification of patients with OFI than test-time stratifications alone, by accounting for individual patient characteristics.


Assuntos
Degeneração do Disco Intervertebral , Humanos , Masculino , Feminino , Criança , Degeneração do Disco Intervertebral/complicações , Degeneração do Disco Intervertebral/cirurgia , Vértebras Lombares/cirurgia , Estudos Prospectivos , Aprendizado de Máquina não Supervisionado , Medição da Dor/métodos
12.
J Med Internet Res ; 25: e45044, 2023 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-37856179

RESUMO

BACKGROUND: The growing global burden of visual impairment necessitates better population eye screening for early detection of eye diseases. However, accessibility to testing is often limited and centralized at in-hospital settings. Furthermore, many eye screening programs were disrupted by the COVID-19 pandemic, presenting an urgent need for out-of-hospital solutions. OBJECTIVE: This study investigates the performance of a novel remote perimetry application designed in a virtual reality metaverse environment to enable functional testing in community-based and primary care settings. METHODS: This was a prospective observational study investigating the performance of a novel remote perimetry solution in comparison with the gold standard Humphrey visual field (HVF) perimeter. Subjects received a comprehensive ophthalmologic assessment, HVF perimetry, and remote perimetry testing. The primary outcome measure was the agreement in the classification of overall perimetry result normality by the HVF (Swedish interactive threshold algorithm-fast) and testing with the novel algorithm. Secondary outcome measures included concordance of individual testing points and perimetry topographic maps. RESULTS: We recruited 10 subjects with an average age of 59.6 (range 28-81) years. Of these, 7 (70%) were male and 3 (30%) were female. The agreement in the classification of overall perimetry results was high (9/10, 90%). The pointwise concordance in the automated classification of individual test points was 83.3% (8.2%; range 75%-100%). In addition, there was good perimetry topographic concordance with the HVF in all subjects. CONCLUSIONS: Remote perimetry in a metaverse environment had good concordance with gold standard perimetry using the HVF and could potentially avail functional eye screening in out-of-hospital settings.


Assuntos
Glaucoma , Testes de Campo Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Glaucoma/diagnóstico , Pandemias , Projetos Piloto , Reprodutibilidade dos Testes , Testes de Campo Visual/métodos , Campos Visuais , Estudos Prospectivos
13.
Int J Sports Phys Ther ; 18(5): 1218-1229, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37795325

RESUMO

Overall, 84%-87% of athletes will return to sport following hip arthroscopy; however, some literature suggests that only 57% of athletes return to their preinjury level, and only 16.9% report optimal performance. This discrepancy may be due to a lack of consistency within the definition of return to sport as well as a lack of consistency within rehabilitation programs when determining return to sport readiness. Athletes who are returning to sport must demonstrate adequate range of motion, strength, and the ability to perform multi-directional movements without the risk of reinjury. There has yet to be a comprehensive, criteria-based, return to sport testing protocol that utilizes objective measures to ensure athletes are ready for return to sport. The goal of the authors was to create a criteria-based testing protocol for return to sport following hip arthroscopy utilizing components best supported in the literature. The following parameters were identified as key areas to assess for within a return to sport testing protocol: range of motion, strength, functional testing, self-reported outcomes including psychological readiness and time. The purpose of this clinical commentary is to propose a criteria-based testing protocol to be used following hip arthroscopy for impingement from early rehabilitation through return to previous level of sport. Criteria are presented clearly to promote objective progression through rehabilitation while still being mindful of the biological healing time required for safe and efficient progression. It is the authors' hope that in identifying and establishing a criteria-based testing protocol a higher percentage of athletes will be able to return to sport. Level of Evidence: 5.

14.
Cancers (Basel) ; 15(16)2023 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-37627132

RESUMO

Prediction of therapeutic outcomes is important for cancer patients in order to reduce side effects and improve the efficacy of anti-cancer drugs. Currently, the most widely accepted method for predicting the efficacy of anti-cancer drugs is gene panel testing based on next-generation sequencing. However, gene panel testing has several limitations. For example, only 10% of cancer patients are estimated to have druggable mutations, even if whole-exome sequencing is applied. Additionally, even if optimal drugs are selected, a significant proportion of patients derive no benefit from the indicated drug treatment. Furthermore, most of the anti-cancer drugs selected by gene panel testing are molecularly targeted drugs, and the efficacies of cytotoxic drugs remain difficult to predict. Apart from gene panel testing, attempts to predict chemotherapeutic efficacy using ex vivo cultures from cancer patients have been increasing. Several groups have retrospectively demonstrated correlations between ex vivo drug sensitivity and clinical outcome. For ex vivo culture, surgically resected tumor tissue is the most abundant source. However, patients with recurrent or metastatic tumors do not usually undergo surgery, and chemotherapy may be the only option for those with inoperable tumors. Therefore, predictive methods using small amounts of cancer tissue from diagnostic materials such as endoscopic, fine-needle aspirates, needle cores and liquid biopsies are needed. To achieve this, various types of ex vivo culture and endpoint assays using effective surrogate biomarkers of drug sensitivity have recently been developed. Here, we review the variety of ex vivo cultures and endpoint assays currently available.

15.
J Am Heart Assoc ; 12(16): e029484, 2023 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-37548161

RESUMO

Background Real-world evidence for the selection of gatekeeping studies in patients with suspected coronary syndromes is limited. Methods and Results We identified 27 036 patients who underwent coronary computed tomography angiography (CCTA), single-photon emission computed tomography, and the treadmill test for suspected coronary syndromes from the Korean National Health Insurance Service-National Sample Cohort between 2006 and 2014. The primary end point was a composite of cardiac death and myocardial infarction, and the secondary end point was a composite of the primary end point and revascularization. During a median follow-up of 5.4 years, the risk of both primary and secondary end points was significantly higher in the single-photon emission computed tomography group (hazard ratio [HR], 1.81 [95% CI, 1.34-2.45]; and HR, 1.42 [95% CI, 1.22-1.66]), but significantly lower in the treadmill test group (HR, 0.53 [95% CI, 0.42-0.67]; and HR, 0.69 [95% CI, 0.62-0.76]) compared with the CCTA group. After balancing baseline risk factors, there was no significant difference in the primary end point in those with single-photon emission computed tomography (HR, 1.11 [95% CI, 0.78-1.57]; P=0.58) or treadmill test (HR, 0.84 [95% CI, 0.65-1.08]; P=0.18) groups, compared with the CCTA group. The event rate of the secondary end point was significantly lower in the treadmill test group than in the CCTA group (HR, 0.87 [95% CI, 0.78-0.96]; P=0.008). Conclusions Compared with functional testing, initial CCTA was not associated with a lower rate of cardiac death or myocardial infarction when used as an initial diagnostic test for patients with suspected coronary syndromes.


Assuntos
Doença da Artéria Coronariana , Infarto do Miocárdio , Humanos , Angiografia por Tomografia Computadorizada , Doença da Artéria Coronariana/diagnóstico , Angiografia Coronária/métodos , Síndrome , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/epidemiologia
16.
Front Physiol ; 14: 1185556, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37378078

RESUMO

Elite athletes are regularly exposed to high and repetitive mechanical stresses and impacts, resulting in high injury rates. The consequences of injury can range from time lost from training and competition to chronic physical and psychological burden, with no guarantee that the athlete will return to preinjury levels of sport activity and performance. Prominent predictors include load management and previous injury, highlighting the importance of the postinjury period for effective return to sport (RTS). Currently, there is conflicting information on how to choose and assess the best reentry strategy. Treating RTS as a continuum, with controlled progression of training load and complexity, seems to provide benefits in this process. Furthermore, objectivity has been identified as a critical factor in improving the effectiveness of RTS. We propose that assessments derived from biomechanical measurements in functional settings can provide the objectivity needed for regular biofeedback cycles. These cycles should aim to identify weaknesses, customize the load, and inform on the status of RTS progress. This approach emphasizes individualization as the primary determinant of RTS and provides a solid foundation for achieving it.

17.
Med. infant ; 30(2): 191-197, Junio 2023. ilus
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1443762

RESUMO

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)


Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Doenças Autoimunes/diagnóstico , Terapêutica/instrumentação , Reação em Cadeia da Polimerase/métodos , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Sequenciamento de Nucleotídeos em Larga Escala , Laboratórios Hospitalares
18.
Am J Sports Med ; 51(8): 2057-2063, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37212572

RESUMO

BACKGROUND: Clinical outcomes after revision anterior cruciate ligament reconstruction (ACLR) are not well understood. HYPOTHESIS: Patients undergoing revision ACLR would demonstrate worse patient-reported outcomes and worse limb symmetry compared with a cohort undergoing primary ACLR. STUDY DESIGN: Cohort study; Level of evidence, 3. METHODS: 672 participants (373 with primary ACLR, 111 with revision ACLR, and 188 uninjured) completed functional testing at a single academic medical center. Descriptive information, operative variables, and patient-reported outcomes (International Knee Documentation Committee score, Knee injury and Osteoarthritis Outcome Score, and Tegner Activity Scale score) were assessed for each patient. Quadriceps and hamstring strength tests were conducted using a Biodex System 3 Dynamometer. Single-leg hop for distance, triple hop test, and the 6-m timed hop test were also assessed. Limb symmetry index (LSI) between the ACLR limb and contralateral limb was calculated for strength and hop testing. Normalized peak torque (N·m/kg) was calculated for strength testing. RESULTS: No differences were found in group characteristics, excluding body mass (P < .001), or in patient-reported outcomes. There were no interactions between revision status, graft type, and sex. Knee extension LSI was inferior (P < .001) in participants who had undergone primary (73.0% ± 15.0%) and revision (77.2% ± 19.1%) ACLR compared with healthy, uninjured participants (98.8% ± 10.4%). Knee flexion LSI was inferior (P = .04) in the primary group (97.4% ± 18.4%) compared with the revision group (101.9% ± 18.5%). Difference in knee flexion LSI between the uninjured and primary groups, as well as between the uninjured and revision groups, did not reach statistical significance. Hop LSI outcomes were significantly different across all groups (P < .001). Between-group differences in extension in the involved limb (P < .001) were noted, as the uninjured group exhibited stronger knee extension (2.16 ± 0.46 N·m/kg) than the primary group (1.67 ± 0.47 N·m/kg) and the revision group (1.78 ± 0.48 N·m/kg). As well, differences in flexion in the involved limb (P = .01) were found, as the revision group exhibited stronger knee flexion (1.06 ± 0.25 N·m/kg) than the primary group (0.97 ± 0.29 N·m/kg) and the uninjured group (0.98 ± 0.24 N·m/kg). CONCLUSION: At 7 months postoperatively, patients who had undergone revision ACLR did not demonstrate inferior patient-reported outcomes, limb symmetry, strength, or functional performance compared with patients who had undergone primary ACLR. Patients who had undergone revision ACLR exhibited greater strength and LSI than their counterparts with primary ACLR, but these parameters were still inferior to those of uninjured controls.


Assuntos
Lesões do Ligamento Cruzado Anterior , Reconstrução do Ligamento Cruzado Anterior , Humanos , Estudos de Coortes , Lesões do Ligamento Cruzado Anterior/cirurgia , Força Muscular , Volta ao Esporte , Músculo Quadríceps/cirurgia , Desempenho Físico Funcional
19.
Cureus ; 15(4): e37009, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37139029

RESUMO

Introduction The coronavirus disease 2019 (COVID-19) pandemic has resulted in rapid healthcare system adaptations, including the acceptance of telemedicine in primary care. In the case of knee ailments, among the most common problems encountered in primary care, telemedicine provides a literal window to observe the patient performing functional activities. Despite its potential, there is a lack of standardized protocols for data collection. The purpose of this article is to provide a step-by-step protocol to aid in performing a telemedicine examination of the knee. Methods This article provides a step-by-step guide for a telehealth examination of the knee. Results A step-by-step examination of how to structure a telemedicine evaluation of the knee. A glossary of images of each maneuver has been included to demonstrate the components of the examination. Additionally, a table of questions and possible answers were included to help guide the provider through a knee examination. Conclusion This article provides a structured and efficient means of extracting clinically relevant information during telemedicine examinations of the knee.

20.
J Allergy Clin Immunol Pract ; 11(6): 1579-1591, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37054882

RESUMO

With the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with immunodeficiency, the spectrum of disease is broad and often extends to features typical of autoimmunity, autoinflammation, atopic disease, and/or malignancy. Here we use case studies to discuss the laboratory and genetic tests used that ultimately led to the specific diagnoses.


Assuntos
Autoimunidade , Testes Genéticos , Humanos , Citometria de Fluxo
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