RESUMEN

BACKGROUND: Gaucher disease (GD) is the most prevalent lysosomal storage disorder, affecting all ethnic groups, although its prevalence is higher in Ashkenazi Jewish populations. Three clinical forms of GD have been described: Type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute neuronopathic. An autosomal recessive disorder is caused by variants in the human glucocerebrosidase gene (GBA; MIM*606463) located on chromosome 1q21, resulting from deficit or lack of activity of the ß-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside substrate in the cells of the macrophage-monocyte system. The aim was to determine variants in Mexican and Spanish populations with GD. METHODS: We report the molecular analysis by a direct automatic method sequenced of both chains of the GBA gene, in 69 Mexican and 369 Spanish patients with GD. RESULTS: We detected 75 variants with pathogenic or likely pathogenic effect and, identified 3 new variants c.408_412del/p.Asn136Lysfs*15; c.820G>A/p.Glu274Lys and c.1058T>G/p*. The most frequent variants were c.1448T>C/p.Leu483Pro/L444P and c.1226A>G/p.Asn409Ser/N370S. The detected genotypes were compared with data from both GD registries to define similarities and differences in both populations. CONCLUSIONS: We defined the variant profile in patients with GD in a Mexican and a Spanish population and compared them. The screening permitted the detection of common variants and the report of three new variants, in addition to a variant associated with Parkinson disease but not with GD. Since molecular diagnosis has considerable predictive value in GD, it is important to study the genotype-phenotype correlations, establishing the severity of the variant.

Asunto(s)

RESUMEN

Objetivos: Determinar la viabilidad anatómica del aumento del continente del primer compartimento dorsal y comunicar la ex-periencia clínica de esta nueva técnica comparada con la liberación clásica. materiales y métodos: Estudio anatómico de 12 muñecas cadavéricas para comprobar el aumento del continente del primer compartimento y su relación con la rama sensitiva radial. Estudio clínico retrospectivo que incluyó a pacientes >18 años, sin cirugías previas, con tenosinovitis de De Quervain sin respuesta al tratamiento ortopédico, operados entre enero de 2014 y enero de 2019, y con un seguimiento mínimo de 12 meses. Veintidós pacientes fueron divididos en: grupo A (aumento) y grupo B(liberación simple). La edad promedio era 47 (grupo A) y 50 años (grupo B). La evaluación subjetiva incluyó la escala analógica visual para dolor, el puntaje QuickDASH y el cuestionario de satisfacción PSQ-18; el examen objetivo consistió en evaluaciones goniométrica y dinamométrica. Resultados: El estudio ana-tómico demostró un aumento del continente del primer compartimento dorsal y una íntima relación con la rama sensitiva radial. El seguimiento promedio del estudio clínico fue 24 y 50 meses, en los grupos A y B, respectivamente. El puntaje promedio de la escala analógica visual para dolor fue 0,5/10 (grupo A) y 1/10 (grupo B). El índice de satisfacción fue del 97% en ambos grupos. El puntaje QuickDASH, las evaluaciones goniométrica y dinamométrica no arrojaron diferencias significativas. Conclusión: La nueva plástica de aumento del continente del primer compartimento dorsal para tratar la tenosinovitis de De Quervain en este estudio anatomoclínico resultó eficaz y reproducible. Nivel de Evidencia: III

Objective: To establish the anatomical feasibility of the first dorsal compartment (FDC) enlargement and to report our clinical experience with this new technique compared with the traditional release. materials and methods: Anatomical study of 12 ca-daver wrists to corroborate first compartment enlargement and its relationship to the sensitive branch of the radial nerve. Clinical retrospective study of patients who had undergone surgery between 2014 and 2019 due to De Quervain tenosynovitis (DQT) refractory to nonsurgical management, over 18 years of age, with no previous surgical history and a 12-month minimum follow-up. The 22-patient series was divided into two groups: enlargement (Group A) and simple release (Group B). Average ages were 47 years (Group A) and 50 years (Group B). Subjective outcome was evaluated by the visual analogue scale (VAS) for pain, the Quick-DASH score, and the Patient Satisfaction Questionnaire Short Form (PSQ-18). Objective outcome was evaluated by goniometry and dynamometry tests. Results: The anatomical study proved the increase of the FDC laxity and its close relationship to the sensitive branch of the radial nerve. The clinical study follow-up periods were of 24 months in Group A and 50 months in Groups B. Average VAS scores were 0.5/10 in Group A and 1/10 in Group B). Satisfaction index was 97% in both groups. Quick-DASH scores, and goniometry and dynamometry tests yielded no significant differences. Conclusions: The new enlargement plasty of the FDC for the surgical treatment of DQT in this anatomical and clinical study proved to be a reproducible and effective technique. Level of Evidence: III

Asunto(s)

RESUMEN

Benznidazole, drug of choice for Chagas disease (CD), has been associated with a high incidence of adverse reactions that can become serious, necessitating discontinuation of the drug. We describe the case of a Bolivian patient living in Spain for 9 years, who, following treatment with benznidazole for CD in indeterminate chronic phase, presented with fever, skin lesions, digestive symptoms, general malaise, and laboratory abnormalities. After the discontinuation of benznidazole and, the intake of antihistamines and systemic corticosteroids, the patient presented a complete resolution of the symptoms. Optimization of dose strategies and development of more effective, and better-tolerated drugs is advisable.

Asunto(s)

RESUMEN

Abstract Benznidazole, drug of choice for Chagas disease (CD), has been associated with a high incidence of adverse reactions that can become serious, necessitating discontinuation of the drug. We describe the case of a Bolivian patient living in Spain for 9 years, who, following treatment with benznidazole for CD in indeterminate chronic phase, presented with fever, skin lesions, digestive symptoms, general malaise, and laboratory abnormalities. After the discontinuation of benznidazole and, the intake of antihistamines and systemic corticosteroids, the patient presented a complete resolution of the symptoms. Optimization of dose strategies and development of more effective, and better-tolerated drugs is advisable.

Asunto(s)

RESUMEN

ABSTRACT Background Dry needling (DN) and percutaneous electrical nerve stimulation (PENS) are widely used techniques in the treatment of myofascial pain. Objective To investigate the immediate and short-term effects of the combination of DN and PENS compared to DN alone on the upper trapezius muscle. Method This is a 72-hour follow-up single-blinded randomized controlled trial. Sixty-two volunteer patients with chronic myofascial neck pain with active Myofascial Trigger Points (MTrPs) in the upper trapezius muscle were recruited. Randomization was performed, and 31 patients received DN treatment (DN group) and 31 received DN and PENS (DN+PENS group). The primary outcomes were neck disability index (NDI) and visual analog scale for pain for both post-needling soreness (PNS) and neck pain intensity (NPI). Pressure pain threshold (PPT) and cervical range of motion (CROM) were the secondary outcomes. Results We detected between-group differences in NPI and PNS in favor of the DN+PENS group immediately after treatment. No between-group differences in NDI were observed. Conclusion PENS application after dry needling treatment is more effective than dry needling alone for decreasing soreness in the short term and improving neck pain intensity immediately in patients with myofascial chronic neck pain.

Asunto(s)

RESUMEN

BACKGROUND: Dry needling (DN) and percutaneous electrical nerve stimulation (PENS) are widely used techniques in the treatment of myofascial pain. OBJECTIVE: To investigate the immediate and short-term effects of the combination of DN and PENS compared to DN alone on the upper trapezius muscle. METHOD: This is a 72-hour follow-up single-blinded randomized controlled trial. Sixty-two volunteer patients with chronic myofascial neck pain with active Myofascial Trigger Points (MTrPs) in the upper trapezius muscle were recruited. Randomization was performed, and 31 patients received DN treatment (DN group) and 31 received DN and PENS (DN+PENS group). The primary outcomes were neck disability index (NDI) and visual analog scale for pain for both post-needling soreness (PNS) and neck pain intensity (NPI). Pressure pain threshold (PPT) and cervical range of motion (CROM) were the secondary outcomes. RESULTS: We detected between-group differences in NPI and PNS in favor of the DN+PENS group immediately after treatment. No between-group differences in NDI were observed. CONCLUSION: PENS application after dry needling treatment is more effective than dry needling alone for decreasing soreness in the short term and improving neck pain intensity immediately in patients with myofascial chronic neck pain.

Asunto(s)