Measurement properties of the Boston Carpal Tunnel Questionnaire in subjects with neurophysiological confirmation of carpal tunnel syndrome: a Rasch analysis perspective.

PURPOSE: To perform a comprehensive psychometric analysis of the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) by means of factor and Rasch analyses in subjects with neurophysiologic confirmation of carpal tunnel syndrome (CTS). Relationship between clinical severity assessed with the log-linear version of the BCTQ and neurophysiologic severity assessed with nerve conduction studies was further examined. METHODS: Five hundred and twenty-eight individuals completed the questionnaire. Confirmatory and exploratory factor analyses were used to determine the latent structure of the BCTQ. Through Rasch methodology, a log-linear version was proposed given the latent structure of the questionnaire. Linear relationship between the proposed questionnaire and neurophysiologic findings was established. RESULTS: The BCTQ underlying structure comprises, at least, three factors that may be represented by Functionality, Paresthesia and Pain domains. Two log-linear subscales may be proposed: subscale 1 comprised of the Functionality factor and subscale 2 which incorporates the Paresthesia and Pain factors under a bifactor solution. Neurophysiologic and clinical severity classification system displays a very weak linear correlation. CONCLUSION: A log-linear version of the BCTQ, useful as an outcome tool in clinical and trial settings, is proposed. Neurophysiological data lack the ability to resemble changes in clinical status of individuals with CTS.

Slowly progressing Amyotrophic lateral sclerosis associated with the F21L variant in the SOD1 gene: Demographic and clinical characteristics.

INTRODUCTION/OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease in which genetic variants can significantly influence clinical presentation and prognosis. This study aims to describe the demographic and clinical characteristics of ALS patients carrying the SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant, as treated at a national reference center in Colombia. METHODS: A descriptive study was conducted on patients identified with the SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant, selected from the database of a neuromuscular disease center in Colombia. Demographic and clinical data were collected through medical records and patient interviews. Molecular analysis was performed using PCR and automated sequencing to confirm the presence of the variant. RESULTS: Eleven patients with SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant were identified. The mean age at onset was 48.4 years, with a mean disease duration of 76.7 months. The majority (90.9%) exhibited a slowly progressive course, predominantly with spinal onset and no cognitive impairment. Bulbar symptoms developed in 72.2% of the patients, and 81.8% required noninvasive ventilation. A family history of ALS or other neurodegenerative disorders was present in 54.5% of the patients. CONCLUSIONS: The SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant is associated with a slowly progressive ALS phenotype, characterized by predominant lower motor neuron involvement and delayed onset of bulbar and respiratory symptoms. This variant appears to be predominantly distributed in central Colombia. Early detection of this variant may enable timely interventions and personalized care plans. Further research is required to establish a definitive causal relationship between this variant and the observed clinical course.

Profiles of disease progression and predictors of mortality in Colombian patients with amyotrophic lateral sclerosis: a comprehensive longitudinal study.

Objective: This study aimed to assess the prognostic value of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) in predicting mortality and characterizing disease progression patterns in ALS patients in Colombia. Methods: We conducted a retrospective longitudinal analysis of 537 ALS patients from the Roosevelt Institute Rehabilitation Service between October 2008 and October 2022. The study excluded nine patients due to incomplete data, resulting in 528 individuals in the analysis. ALS diagnoses were confirmed using the revised El Escorial and Gold Coast criteria. Disease progression was assessed using the ALSFRS-R, and mortality data were sourced from follow-up calls and a national database. Statistical analysis included Cox proportional hazards models to identify mortality predictors and Growth Mixture Modeling (GMM) to explore ALS progression trajectories. Results: The majority of the cohort (63.8%) deceased within the 84-month follow-up period. Survival analysis revealed that each point increase in the ALSFRS-R rate was associated with a 2.22-fold (95% CI =1.99-2.48, p < 0.001) increased risk of mortality. In the population with data from two clinical visits, the ALSFRS-R rate based on initial assessments predicted mortality more effectively over 36 months than the rate based on two evaluations. GMM identified three distinct progression trajectories: slow, intermediate, and rapid decliners. Conclusions: The ALSFRS-R rate, derived from self-reported symptom onset, significantly predicts mortality, underscoring its value in clinical assessments. This study highlights the heterogeneity in disease progression among Colombian ALS patients, indicating the necessity for personalized treatment approaches based on individual progression trajectories. Further studies are needed to refine these predictive models and improve patient management and outcomes.

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.

BACKGROUND: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches. CASE PRESENTATION: Patient 1, a 10-month-old female from Bogota, Colombia, presented with generalized hypotonia, macroglossia, hyporeflexia, and mild left ventricular hypertrophy. Diagnostic tests confirmed early-onset Pompe disease, and enzyme replacement therapy was started at 12 months. Due to a lack of improvement and high anti-recombinant human acid alpha-glucosidase IgG antibody titers (1:1800), methotrexate was started at 18 months. After 8 months of combined therapy, antibody titers were negative and significant improvement in motor function was observed using the Gross Motor Function Measure 88. Patient 2, a 7-year-old female from Bogota, Colombia, was diagnosed with early-onset Pompe disease at 12 months and initiated enzyme replacement therapy. At 5 years of age, she experienced frequent falls and grip strength alterations. Functional tests revealed motor development delay, generalized hypotonia, and positive anti-recombinant human acid alpha-glucosidase IgG antibody titers (6400). Methotrexate was initiated, leading to a reduction in falls and antibody titers (3200) after 6 months, with no adverse events or complications. Motor function improvement was assessed using the Motor Function Measurement 32. CONCLUSIONS: The presented cases highlight the importance of monitoring patients for anti-recombinant human acid alpha-glucosidase antibody development during enzyme replacement therapy and the potential benefit of methotrexate as an immunomodulatory agent in early-onset Pompe disease. Early diagnosis and timely initiation of enzyme replacement therapy, combined with prophylactic immune tolerance induction, may improve clinical outcomes and reduce the development of anti-recombinant human acid alpha-glucosidase antibodies. The cases also highlight the importance of objective motor function assessment tools, such as Gross Motor Function Measure 88 and Motor Function Measurement 32, in assessing treatment response. Further research is needed to optimize treatment regimens, monitor long-term effects, and address the current limitations of enzyme replacement therapy in Pompe disease.

Changes in electromyographic results of patients with lumbar radiculopathy: a follow-up study.

OBJECTIVE: To assess the neurophysiologic changes in a group of patients with lumbar radiculopathy 5 to 12 months after their first electromyographic examination. DESIGN: A prospective group of patients with a case definition of lumbar radiculopathy was reassessed between 5 and 12 months after their first clinical, functional, imaging, and neurophysiologic evaluation. Both the lumbar paraspinals (in which the mini-mapping technique was used) and the same lower limb muscles were explored in every patient. Relevant abnormalities were (1) positive sharp waves/fibrillation potentials, (2) polyphasic motor unit potentials, and (3) large-amplitude/long-duration motor unit potentials. Patients were sorted into 5 groups based on the type and distribution of neurophysiologic abnormalities: from 0 (no abnormalities) to 4 (denervation signs in 2 lower limb muscles and paraspinals). Patients' subjective perception of any improvement or worsening of their condition was also recorded. SETTING: A referral center for neurophysiologic evaluation. PARTICIPANTS: A consecutive sample of patients (N=91) with a clinical definition of lumbar radiculopathy (lumbar pain radiating down the leg and below the knee) referred for neurophysiologic assessment was selected for an initial clinical, functional, and neurophysiologic evaluation. Patients were called for a second evaluation (between 5 and 12mo). Thirty-eight (42% of the initial sample) were willing/eligible for the second evaluation. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Changes in (1) electromyographic results; (2) patients' subjective perception of pain; and (3) quality of life, based on the Roland-Morris Questionnaire and Medical Outcomes Study 36-Item Short-Form Health Survey scores. RESULTS: Paraspinal muscles were most frequently affected. Neurophysiologic abnormalities had improved on reassessment. Clinical improvement was more significant for those patients with initially abnormal electromyographic results. CONCLUSIONS: There was clinical as well as electromyographic improvement in patients with lumbar radiculopathy within the first year of the initial diagnosis.

Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia.

Late-onset spinal muscular atrophy associated with the VAPB gene is a slowly progressing, adult-onset, lower motor neuron disease with an autosomal dominant inheritance pattern. We present a male with progressive weakness beginning at age 44, predominantly in the proximal legs, fasciculations, and gait disturbance, with similar clinical syndrome in his mother. On physical examination, he presented weakness in 4 extremities, predominantly proximal, with atrophy and areflexia. The genetic study identified the c.166C > T mutation in the VAPB gene. The P56S mutation of the VAPB gene is associated with adult-onset spinal muscular atrophy and amyotrophic lateral sclerosis; It has been reported in different countries, although the prevalence is higher in Brazil, related to Portuguese migration. Clinically, the patients present with late-onset ALS or SMA. The disease usually onset in the fifth decade of life as progressive weakness, predominantly proximal in the lower extremities, without bulbar or respiratory involvement.

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation.

Congenital muscular dystrophy due to merosin deficiency is one of the most common congenital muscular dystrophies. It is characterized by a LAMA2 gene mutation and causes varied clinical symptoms depending on the type of presentation. In this case report, we identified the importance of the medical history and the autosomal recessive expression, which compromises the sequencing of the LAMA2 gene, with a mutation variant c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity not described so far. As well as the phenotypic characteristics of the evidenced mutation. A 13-year-old patient presented with a clinical history that began at 18 months of age. According to the mother, the patient had a delay in neurological development and could not walk since he was 7. In addition, contractures were observed in the lower extremity, elbows, and fingers of both hands. The patient also had scoliosis, bilateral hip dysplasia, and sleep apnea-hypopnea syndrome. However, cognitive function was unaffected. Extension studies revealed elevated creatine kinase levels, electromyography indicated muscle fiber involvement, and brain resonance imaging showed a hyperintense lesion at the periventricular level along with symmetrical supratentorial findings. Immunohistochemical studies of merosin showed incomplete reactivity and gene sequencing revealed evidence of a LAMA2 mutation: c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity. Congenital muscular dystrophy caused by merosin deficiency is characterized by the absence of laminin alpha-2. The clinical manifestation of this disease is a severe phenotype, mainly due to the early onset of the disease. In patients with mutations in the LAMA2 gene, the absence or partial reduction of laminin alpha-2 staining may allow some degree of ambulation, as it could indicate a partially functional protein. To complement clinical, immunohistochemical, and pathologic findings, ultrasound can be used as a potential tool for monitoring or assisting in the diagnosis of individuals with congenital muscular dystrophy. In this study, we performed sequencing of the LAMA2 gene, which revealed a homozygous c. 1854_1861dup (p. Leu621Hisfs*7) mutation. In addition, we describe the phenotypic features associated with this specific mutation.

Physical capacity tests as a complement in the evaluation of the level of disability in women with fibromyalgia: A cross-sectional study.

INTRODUCTION: The association between motor capacity and the level of disability in patients with fibromyalgia remains underexplored. This study aims to explore the association between physical capacity tests explored in the consultation and the level of disability in women with fibromyalgia. METHODS: There were 484 women diagnosed with fibromyalgia who were evaluated with 7 physical capacity tests: 10-m walk, 2-minute walk, 5-repetition getting up from a chair and sitting (G&S), 30-second chair stand, monopodal balance (right and left), and up-and-go. Functional performance was assessed with the Revised Fibromyalgia Impact Questionnaire (FIQR). Evaluation of the association between the physical capacity tests and the FIQR was initially performed using a principal component analysis (PCA). Subsequently, agglomerative hierarchical clustering (AHC) was performed in order to characterize groups of patients. RESULTS: Results show than FIQR and the tests 10-m walk, 2-minute walk, 5-repetition G&S, 30-second chair stand, and up-and-go test were correlated. The results of the AHC determined 3 groups of patients mainly on one motor dimension with significant differences in both the FIQR and the physical capacity tests retained in the PCA (P < 0.001 for all). CONCLUSION: The application of these physical tests is simple, fast and can be a complement to the FIQR questionnaire when determining the level of disability of patients with fibromyalgia, in addition to providing information on the evolution of the patients when these tests are administered in the clinical consultation.

Trajectories of motor function in children with Duchenne muscular dystrophy: A longitudinal study on a Colombian population.

Duchenne Muscular Dystrophy (DMD) is characterized by an initial increase in motor function followed by a plateau phase and then entering a phase of steady decline. However, motor evolution of DMD have not been evaluated in developing countries. Therefore, this study aims to evaluate the trajectory of motor function in a sample of Colombian children with DMD. We included 119 children with DMD aged 4.8-19.3 years (mean follow-up = 1.7 years). A linear mixed model was used with age as the time scale and adjusted for covariates using a stepwise regression. Participants showed a progressive decline in motor skills from the age of 5 years with a decrease in speed around the age of 11 years (p < 0.001). After age 11, the decline in motor function was observed to continue until age 20 but at a slower rate (ßAge = -9.64. and ßAge2 = 0.18, p < 0.001 for both). Educational inclusion, glucocorticoid treatment and the number of mutated exons were shown to be associated with the motor performance. These findings may indicate that the evolution of DMD maintains similar patterns between high income countries and the Colombian population. They allow us to adapt and develop treatments that impact the population with DMD in Colombia, based in international evidence.

Assessment of Manual Abilities Using the Box and Block Test in Children with Bilateral Cerebral Palsy.

Objective: The aim of this study was to determine the correlation between manual dexterity evaluated with the Box and Block Test (BBT) and the performance of daily activities in children with bilateral cerebral palsy (CP). Methods: The BBT was applied to 162 children with cerebral palsy of bilateral distribution aged 6 to 13 years. The level of performance was evaluated according to the Manual Ability Classification System (MACS), Gross Motor Function Classification System (GMFCS), and Pediatric Evaluation of Disability Inventory (PEDI) in the domains of self-care, mobility, and social function. Correlations between the findings of the BBT and the PEDI were determined, and additionally, some specific toileting tasks of the PEDI were evaluated. Results: The results of the BBT were lower in the lowest functional levels of the MACS (p ≤ 0.001). The BBT showed a strong correlation with the domains' self-care (r = 0.8), mobility (r = 0.7), and social function (r = 0.6) of the PEDI. The BBT was different between children who were able and children who were not able to perform the toileting tasks that were evaluated. A lower capacity in the BBT obtained in children with functional status GMFCS III, IV, and V was associated with poor performance in toileting tasks evaluated in the PEDI. Conclusion: The results of the BBT are correlated with the activities of daily living of children with bilateral CP. The data obtained from this test is used to predict the performance of daily activities of these patients in settings such as school and home and helps to identify contextual factors that influence the level of independence in children with bilateral CP.

Correlation Nerve Conduction Studies with Findings of the Ultrasound of the Median Nerve in Patients with Carpal Tunnel Syndrome.

BACKGROUND: Ultrasonography is a diagnostic resource that serves as a complement in the evaluation of patients with carpal tunnel syndrome. The correlation of ultrasonography findings with nerve conduction studies can serve to classify new phenotypes and to evaluate therapeutic responses. OBJECTIVES: To determine the diagnostic sensitivity of ultrasound, the correlation between the diameter of the nerve (CSA) against the motor and sensitive latencies, and the capacity to differentiate the mild, moderate and severe degrees of the electrophysiological classification of carpal tunnel syndrome. METHODS: A cross-sectional study with prospective data collection was carried out. An ultrasonography system with a 15 MHz transducer was used. Nerve conduction studies of the median nerve were performed with conventional techniques. Data from the most symptomatic hand were used. Determination of the correlations of nerve diameter with motor and sensitive latencies of the median nerve was performed in four age groups: <40(n=11), 40-54 (n=47), 55-70 (n=42) y >70(n=27). RESULTS: A total of 127 patients were evaluated (average age = 58.2 years: minimum = 26; maximum = 85; SD = 13.4); 109 (85.8%) were female patients. According to the electrophysiological classification, 40 (31.5%) were mild ; 60 (47.2%) were moderate ; and 27 (21.3%) were severe . Significant differences in the area of the median nerve were found between the electrophysiological types (mild, moderate and severe; p = 0.000). The diagnostic sensitivity of ultrasonography differed for each age group. In general, the diagnostic sensitivity was high in patients with severe cases and low for mild cases. The capacity for ultrasonography to classify the degrees of electrophysiological severity was different for each age group. For patients above 70 years and in the age group of 40 to 54 years, the CSA did not differentiate the electrophysiologically moderate cases from the severe ones. CONCLUSION: There is a well-defined and significant correlation between nerve conduction studies and median nerve diameter in patients with Carpal Tunnel Syndrome. However, it shows that the exclusive use of the ultrasonographic measurement of the cross-sectional area through the inlet of the carpal tunnel would not be enough to confirm or rule out an entrapment of the median nerve through the carpal tunnel, nor to predict in every case their electrophysiological severity.

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review.

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

Natural evolution of carpal tunnel syndrome in untreated patients.

OBJECTIVE: To describe the clinical and electrophysiological evolution of a group of patients diagnosed with carpal tunnel syndrome (CTS) who have not undergone any type of treatment (injections, braces or surgery). METHODS: Clinical and electrophysiological monitoring was done consecutively in a series of patients who were admitted with a diagnosis of CTS. The average time for follow-up was 2 years. The Historic and objective Classification scale (HiOb) was used to establish the severity of the disease in the test group, and neuro conductions were done to determine the electrophysiological classification. RESULTS: A total of 132 patients were monitored. In 31 patients (23.4% of the cases), the HiOb classification deteriorated, 28.8% remained stable, and 47.6% showed recovery. In the nerve conduction studies, 10 cases (7.6%) exhibited electrophysiological deterioration, 67.4% remained constant and 25% improved. CONCLUSIONS: A significant percentage of patients with carpal tunnel syndrome had no change in their clinical and electrophysiological condition, while some improved spontaneously without treatment. SIGNIFICANCE: Given that most patients diagnosed with CTS remain stable or even improve over time, a conservative treatment may be all that is needed in a selection of patients with this disorder.

Motor recovery after Guillain-Barré syndrome in childhood.

PURPOSE: To determine the clinical factors that modify the recovery time for gait after Guillain-Barré syndrome (GBS) in childhood. METHOD: Medical records of patients admitted to Instituto de Ortopedia Infantil Roosevelt (IOIR) between years 1991 and 2001, were reviewed. Age, sex, cranial nerve impairment, requirement of assisted ventilation, number of days of assisted ventilation, muscular strength at day 10 of the disease, presence of quadriplegia, intravenous infusion of human gamma globulins (IVIG), were taken as independent variables. The number of needed days to reach Hughes State III was taken as the major outcome. First, univariate analysis was performed and with the factors that showed a statistically significant association with recovery time, multiple linear regression analysis and Cox regression were also performed. RESULTS: Data of 332 children under 15 years old was collected. (Mean age: 7.1 years). A sample of 215 children was gathered for the study, all of them were regarded as functional states IV or V. Acute Motor Axonal Neuropathy (AMAN) was found in 30% of all cases. In the univariate analysis Cranial nerve impairment, requirement of assisted ventilation, presence of quadriplegia and presence of non-excitable motor nerves were associated with delayed motor recovery time. Patients who received IVIG reached Hughes state III faster than those who received only support treatment. This finding, that was more important in the presence of Acute Inflammatory Demyelinating Polyradiculoneuropathy (AIDP), lost its value in the Cox regression analysis. In the multivariate analysis, muscular strength, assessed at day 10 of the disease was the most important predictor to determine motor recovery. The presence of quadriplegia was strongly associated with a delayed recovery time. Relative risk: 3.3 (95% Confidence Interval 2.1 - 5.2). CONCLUSIONS: Muscular strength at day 10 of the disease is the most useful clinical factor to determine prognosis of motor recovery in children who have suffered Guillain-Barré syndrome.

Reliability of home-based, motor function measure in hereditary neuromuscular diseases.

Objective To evaluate the reliability of the motor function measure (MFM) scale in the assessment of disease severity and progression when administered at home and clinic and assess its correlation with the Paediatric Outcomes Data Collection Instrument (PODCI). Methods In this prospective study, two assessors rated children with hereditary neuromuscular diseases (HNMDs) using the MFM at the clinic and then 2 weeks later at the patients' home. Intraclass correlation coefficient (ICC) was calculated for the reliability of the MFM and its domains. The reliability of each item was assessed and the correlation between MFM and three domains of PODCI was evaluated. Results A total of 48 children (5-17 years of age) were assessed in both locations and the MFM scale demonstrated excellent inter-rater reliability (ICC, 0.98). Weighted kappa ranged from excellent to poor. Correlation of the home-based MFM with the PODCI domain 'basic mobility and transfers' was excellent, with the 'upper extremity' domain was moderate, but there was no correlation with the 'happiness' domain. Conclusion The MFM is a reliable tool for assessing patients with HNMD when used in a home-based setting.

[Reliability of neuroconduction studies in carpal tunnel syndrome]. / Confiabilidad de los estudios de neuroconducción en el síndrome de túnel carpiano.

OBJECTIVE: To determine the reliability of neuroconduction studies by comparing two observers and detecting minimum changes when diagnosing carpal tunnel syndrome. METHODS: Sixty-nine patients referred for electrophysiological study due to suspected carpal tunnel syndrome were studied. The patients underwent two examinations, performed by two evaluators, on two different days. Sensory and motor latencies of the median and ulnar nerves were evaluated; all were classified as negative, incipient, mild, moderate, severe or extreme. Relative interval variation, intraclass correlation coefficient, kappa index, limit of agreement and minimum detectable change were estimated. RESULTS: The relative variation of motor nerve latency of the median nerve was -6.8% to 15.9%, with intraclass correlation coefficient of 0.98 for the difference of median-ulnar nerve latency. The minimum detected change was 0.4ms, while the relative interval variation of sensory latency of the median nerve was -5.0% to 11%, with intraclass correlation coefficient of 0.95 for difference with the ulnar nerve. The minimum detectable change was 0.2ms. Electrophysiological classification agreed in 93% of the cases, with a kappa index of 0.89. CONCLUSIONS: Sensory and motor latencies of the median nerve, as well as the difference between them and the ulnar nerve, are reliable measures. The minimum detectable change obtained in our study helps clinicians to establish whether changes in latencies in consecutive or post-treatment studies are significant.

OBJETIVO: Determinar la confiabilidad entre dos observadores y el cambio mínimo detectable de los estudios de neuroconducción para diagnosticar el síndrome de túnel carpiano. MÉTODOS: Se estudiaron 69 pacientes remitidos para estudio electrofisiológico por sospecha de síndrome de túnel carpiano. A los pacientes, se les realizaron dos exámenes, dos días diferentes, por dos evaluadores. Se evaluaron las latencias sensitivas y motoras de los nervios mediano y cubital; todos fueron clasificados como negativos, incipientes, leves, moderados, severos o extremos. Se calculó la variación relativa entre ensayos, el coeficiente de correlación intraclase, el índice de kappa, el límite de acuerdo y el cambio mínimo detectable. RESULTADOS: La variación relativa entre ensayos de la latencia motora del nervio mediano fue de -6,8 % a 15,9 % con coeficiente de correlación intraclase de 0,98 para la diferencia con la latencia del nervio cubital. El cambio mínimo detectable fue de 0,4ms. La variación relativa entre ensayos de la latencia sensitiva del nervio mediano fue -5,0 % a 11 % con coeficiente de correlación intraclase de 0,95 para la diferencia con el nervio cubital. El cambio mínimo detectable fue de 0,2ms. La clasificación ele trofisiológica coincidió en 93 % de los casos, índice de kappa de 0,89. CONCLUSIONES: Las latencias sensitivas y motoras del nervio mediano así como la diferencia de estas con el nervio cubital son medidas confiables. El cambio mínimo detectable obtenido en nuestro estudio le sirve al clínico para establecer si los cambios de las latencias en estudios consecutivos o después del tratamiento son significativos.

[Physician and family perception of the results of multiple orthopedic surgeries in children with cerebral palsy]. / Percepción del médico y la familia de los resultados de las cirugías ortopédicas múltiples en niños con parálisis cerebral.

OBJECTIVE: To compare the perception of physicians and families regarding the results of multilevel orthopedic surgery of the lower limbs to improve gait in children with cerebral palsy. METHODS: An evaluation of medical records and pre- and postoperative videos of children attended in the walking laboratory was carried out. The outcome of the surgical treatment was evaluated by applying not only the physician rating scale, but also the Gillette functional assessment questionnaire (FAQ), as well as perception questionnaires to assess the relatives' perspective. RESULTS: 243 patients were evaluated. According to the functional evaluation questionnaire, 45 cases worsened, 103 improved and 95 remained stable (p<0.001). The physician rating scale showed that gait got worse in 13 cases, improved in 210 and was the same in 20. The overall perception of the treatment outcome was favorable among relatives. A weak but significant correlation between the change in the physician's average score and family satisfaction (r=0.15; p=0.016) was found, as well as between the physician's overall perception and the family's perception (r=1, 5; p=0.015). CONCLUSIONS: The results of the surgical treatment were favorable for both the physician and the family. Although most cases retained functional status according to the gross motor function classification system (GMFCS), a significant proportion of patients improved according to the Gillette functional assessment questionnaire (FAQ).

OBJETIVO: Comparar la percepción del médico y la familia sobre los resultados de las cirugías múltiples de miembros inferiores para mejorar la marcha, en niños con parálisis cerebral. MÉTODOS: Se realizó una evaluación de los registros médicos y de los videos pre y postoperatorios de niños atendidos en el laboratorio de marcha. Se evaluó el resultado del tratamiento quirúrgico mediante la aplicación de la escala del puntaje del médico, la escala de evaluación funcional de Gillette (FAQ) y los cuestionarios de percepción de los resultados desde la perspectiva de la familia. RESULTADOS: Se evaluaron 243 pacientes. De acuerdo al cuestionario de evaluación funcional, 45 casos empeoraron, 103 mejoraron y 95 casos no cambiaron (p<0,001). De acuerdo a la escala del puntaje del médico se encontró que la marcha empeoró en 13 casos, mejoró en 210 y siguió igual en 20. La percepción de la familia sobre el resultado del tratamiento fue favorable. Se encontró una correlación débil pero significativa entre el cambio del puntaje promedio del médico y la satisfacción de la familia (r=0,15; p=0,016) y entre la percepción global del médico y la percepción de la familia (r=1,5; p=0,015). CONCLUSIONES: Los resultados del tratamiento quirúrgico fueron favorables tanto para el médico como para la familia. Aunque la mayoría de casos conservaron su nivel funcional según el sistema de clasificación de la función motora gruesa (GMFCS), una proporción significativa de pacientes mejoraron según el cuestionario de evaluación funcional de Gillette (FAQ).

Caracterización neurofisiológica de la función de fibra pequeña en mujeres heterocigotas con enfermedad de Fabry / Neurophysiologic characterization of small fiber function in heterozigous women with Fabry disease

RESUMEN INTRODUCCIÓN: La enfermedad de Fabry (EF) es una enfermedad genética, causada por el déficit de la enzima alfa galactosidasa A (α-Gal A), lo que provoca la acumulación de glicoesfingolípidos en los tejidos. Sus manifestaciones clínicas son variables. Estudios en mujeres heterocigotas reportan la existencia de dolor neuropático como manifestación de neuropatía de fibra pequeña. OBJETIVO: Determinar la presencia de neuropatía de fibra pequeña en mujeres heterocigotas para la EF, mediante la prueba cuantitativa sensorial. MATERIALES Y MÉTODOS: Se evaluaron 33 mujeres heterocigotas para EF y 33 mujeres sanas, con características demográficas similares. A todas se les aplicó la prueba cuantitativa sensorial (Quantitative Sensory Testing por medio de la detección de umbrales de frío (Colà Detection Threshold), calor (Warm Detection Threshold), dolor inducido por calor (Heat-pain Detection Thresholds) y vibración (Vibratory Detection Threshold) en los miembros superior e inferior, utilizando un sistema asistido por computador versión IV (CASE IV, WR Medical Electronics Co., Stillwater, MN). Adicionalmente, al grupo de mujeres heterocigotas para EF, se le evaluó la percepción subjetiva de dolor neuropàtico mediante el cuestionario de síntomas sensitivos neuropáticos positivos (Positive Neuropathic Sensory Symptom). Los resultados de la prueba cuantitativa sensorial se compararon entre los grupos. También se estableció la correlación entre la prueba cuantitativa sensorial y los resultados del cuestionario de síntomas sensitivos neuropáticos positivos. RESULTADOS: Se encontró una diferencia estadísticamente significativa en las pruebas de vibración (p = 0,008), calor (p = 0,017) y dolor inducido por calor (p = 0,04) en el miembro inferior en las mujeres heterocigotas para EF, comparado con el grupo control. Se encontró una correlación inversa estadísticamente significativa entre la intensidad del dolor quemante y el dolor inducido por calor en el miembro inferior (p = 0,018, r = -0,48) y entre la intensidad del dolor al ser rozado o tocado y el dolor inducido por calor en el miembro inferior (p = 0,006, r = -0,49). CONCLUSIÓN: En las mujeres heterocigotas para EF, las pruebas objetivas para establecer la presencia de neuropatía de fibra pequeña son anormales en miembros inferiores y se correlacionan con los síntomas sensitivos.

SUMMARY INTRODUCTION: Fabry disease is a genetic condition caused by alpha-galactosidase A deficiency triggering glycosphingolipid accumulation in tissues. Clinical manifestations are variable. Studies in heterozigous females report the existence of neuropathic pain as manifestation of small fiber neuropathy. OBJECTIVE: To determine presence of small fiber neuropathy in heterozigous females with Fabry disease through Quantitative Sensory Testing (QST). MATERIALS AND METHODS: 33 heterozigous females with fabry disease and 33 healthy females with similar demographic characteristics were evaluated. QST was performed to every female evaluating Cold detection Threshold (CDT), Warm Detection Threshold (WDT), Heat-pain Detection Threshold (HPDT) and Vibratory Detection Threshold (VDT) in upper and lower limbs through Computer Assisted Sensory Examination software (CASE IV, WR Medical Electronics Co., Stillwater, MN). Subjective perception of neuropathic pain was measured through Positive Neuropathic Sensory Symptom questionnaire (P-NSS) in heterozigous females with Fabry disease. QST results were compared between groups. Correlations between QST and P-NSS were established. RESULTS: Statistically significant differences were observed in VDT (p= 0,008), WDT (p= 0,017) and HPDT (p= 0,04) in lower limbs of heterozigous females with Fabry disease compared with control group. Negative correlation was found among burning pain intensity and HPDT at lower limbs (p= 0,018, r= -0,48) and among pain intensity to light touch and HPDT in lower limbs (p= 0,006, r=-0,49). CONCLUSIONS: Objective tests to establish presence of small fiber neuropathy in heterozigous females with Fabry disease are abnormal at lower limbs and correlate with sensory symptoms.

El límite de disfagia como prueba electromiográfica de detección del trastorno de deglución / Dysphagia limit as electromyographic test to detect swallowing disorders

Objetivo. Determinar la utilidad de la prueba electromiográfica conocida como 'límite de disfagia' en una cohorte de individuos con trastorno de deglución. Materiales y métodos. Se evaluaron 32 individuos sanos y 32 individuos con trastorno de deglución detectado mediante el cuestionario autosuministrado EAT-10 (Eating Assessment Tool-10), versión traducida y validada al español para Colombia. A todos los individuos se les aplicó la prueba límite de disfagia como método cuantitativo y no invasivo para evaluar la deglución mediante electromiografía de superficie con electrodos ubicados en el músculo submentalis y en el espacio cricotiroideo, utilizando un equipo de dos canales Cadwell Summit Sierra®. Se suministró agua cuyo volumen aumentó gradualmente: 5, 10, 15, 20 y 25 ml. Todos los sujetos fueron instruidos para deglutir el volumen total suministrado en un solo trago. Se determinó el número de pasos o bursts que requirió el individuo para ingerir todo el volumen de líquido. Los resultados de la prueba límite de disfagia se compararon entre los grupos. Se estableció correlación entre el EAT-10 y la prueba límite de disfagia. Se calculó la exactitud diagnóstica de la prueba límite de disfagia en cuanto sensibilidad, especificidad, valores predictivos, proporción de falsos positivos y fasos negativos. Resultados. Se encontró una buena exactitud diagnóstica de la prueba límite de disfagia para detectar trastorno de deglución. Se constató una correlación significativa entre el puntaje de la escala EAT-10 y el resultado de la prueba electrofisiológica límite de disfagia. Conclusión. Este estudio muestra que la prueba límite de disfagia tiene un buen rendimiento diagnóstico para detectar trastorno de deglución

Objective. To determine the usefulness of the electromyographic test known as the 'dysphagia borderline' in a cohort of individuals with swallowing disorder. Materials and methods. Thirty-two healthy individuals and 32 individuals with swallowing disorder detected by means of the self-supplied questionnaire EAT-10 (Eating Assessment Tool-10), a version translated and validated in Spanish for Colombia, were evaluated. All individuals underwent the dysphagia borderline test as a quantitative and non-invasive method to evaluate swallowing by means of surface electromyography with electrodes located in the submentalis muscle and in the cricothyroid space, using a two-channel Cadwell Summit Sierra® equipment. Water was supplied with gradually increasing volume: 5, 10, 15, 15, 20 and 25 ml. All subjects were instructed to swallow the total volume supplied in one gulp. The number of steps or bursts required by the individual to swallow the entire volume of liquid was determined. The results of the borderline dysphagia test were compared between groups. Correlations were established between the EAT-10 and the borderline dysphagia test. The diagnostic accuracy of the borderline dysphagia test was calculated in terms of sensitivity, specificity, predictive values, false-positive and false-negative rates. Results. A good diagnostic accuracy of the borderline dysphagia test for detecting swallowing disorder was found. A significant correlation was found between the EAT-10 scale score and the result of the electrophysiological borderline dysphagia test. Conclusion. This study shows that the borderline dysphagia test has a good diagnostic performance to detect swallowing disorder.