COL1A1, CCDC170, and ESR1 single nucleotide polymorphisms associated with distal radius fracture in postmenopausal Mexican women.

Objective: The aim of this study was to analyze the genetic association of five ESR1 single nucleotide polymorphisms (SNPs) (rs3020331, rs851982, rs1999805, rs2234693, rs3020404), four COL1A1 SNPs (rs1800012, rs2075555, rs2412298, rs1107946), and two SNPs on the CCDC170 gene (rs9479055, rs4870044) with distal radius fracture (DRF) in a group of postmenopausal Mexican women.Methods: A case-control study was conducted. Cases (n = 182) were women above the age of 38 years with low-energy DRF, and controls (n = 201) were women without. Analysis was done through real-time polymerase chain reaction. Frequencies and Hardy-Weinberg equilibrium were calculated. A multivariate analysis including bone mass index, age, menarche, and menopause as covariables was carried out. Finally, haplotype and linkage disequilibrium (LD) analyses were performed.Results:COL1A1 rs1107946 was strongly associated with DRF. Both CCDC170 SNPs showed strong association with DRF. For the ESR1 gene, four SNPs (rs2234693, 3020404, rs3020331, and rs851982) showed very strong association with DRF. Additionally, the region between the latter two showed strong LD.Conclusions: A strong association of DRF with variants in these genes was found, including haplotypes and a region with strong LD on ESR1. The results suggest that these SNPs could be useful to detect the population at risk of presenting DRF among Mexican perimenopausal women.

Aplicación del test electrofisiológico de ejercicio en pacientes con miotonía congénita / Application of electrophysiological exercise test in patients with congenital myotonia

Introducción: La miotonía congénita (MC) es la canalopatía muscular más frecuente, con una prevalencia que varía, según la región, entre 0,2 y 7,3 por cada 100.000 habitantes. Se debe a mutaciones en el gen CLCN1, localizado en el cromosoma 7q35, que codifica para la proteína CIC-1, y se caracteriza por presentar miotonía clínica y cambios electrofisiológicos en el potencial de acción muscular compuesto (PAMC), evidentes con el test de ejercicio. El objetivo de este estudio es describir los cambios electrofisiológicos de estos pacientes a partir del test electrofisiológico de ejercicio. Material y métodos: Estudio longitudinal y prospectivo. Se aplicó el test electrofisiológico de ejercicio largo y corto, descrito por Fournier y Streib, incluyendo una exploración con electrodo de aguja, a 5 pacientes con diagnóstico clínico previo de MC, 4 (80%) hombres y 1 (20%) mujer, con una media de edad de 22,17 años, previa estandarización del procedimiento con 10 controles sanos. Resultados: En los 5 pacientes se asoció, en función del decremento significativo en la amplitud del PAMC en el test corto, un patrón de MC, es decir, el patrón electrofisiológico II (de los cinco descritos por Fournier). Conclusiones: El estudio electrodiagnóstico confirmó en todos los casos los hallazgos clínicos de MC. A pesar de que el estudio genético confirma la mutación, considerándose el estándar de referencia diagnóstico, el test de ejercicio continúa siendo una herramienta útil para el diagnóstico, dada la escasa accesibilidad del estudio genético en nuestro medio (AU)

Introduction: Congenital myotonia (CM) is the most common muscular channelopathy with prevalence varies according to the region between 0.2 and 7.3 per 100,000 inhabitants is due to mutations in the CLCN1 gene located in the 7q35 chromosome coding for the CIC-1 protein manifested by clinical myotonia present and electrophysiological changes in the compound muscle action potential (CMAP) evident with exercise test. The objective of this study is to describe the electrophysiological changes of these patients from electrophysiological exercise test. Methods: longitudinal prospective study. Electrophysiological test of long and short exercise described by Fournier and Streib, including scanning electrode needle in 5 patients with previous clinical diagnosis of CM, 4 (80%) men and 1 (20%) women, with a median age is applied 22.17 years, after standardization of the procedure with 10 healthy controls. Results: In 5 patients, was associated, based on the significant decrease in the CMAP amplitude in the short test, a pattern of MC, ie electrophysiological Pattern II (the five described by Fournier). Conclusions: The study confirmed electrodiagnosis in all cases the clinical findings of CM, and although genetic mutation study confirms considered the diagnostic gold standard, the test exercise continues to be a useful diagnostic tool, given the lack of accessibility genetic studies in our environment (AU)

The association of single nucleotide polymorphisms in the calcitonin gene with primary osteoarthritis of the knee in Mexican mestizo population.

Primary osteoarthritis (OA) is a multifactorial disorder with several genetics factors involved. Calcitonin (CT) has been suggested to possess chondroprotective effects and could play an important role in the pathogenesis of OA. The aim of this study was to investigate whether genetic variations in or adjacent to the CT gene may be associated with primary OA of the knee in Mexican mestizo population. We conducted a case-control study to investigate the association between six single nucleotide polymorphisms at the CT locus and OA of the knee in 107 cases and 106 controls. Cases were patients >40 years of age, with a body mass index (BMI) ≤ 27 and a radiologic score for OA of the knee ≥ 2. Controls were subjects >40 years of age with a radiologic score <2. Non-conditional logistic regression was developed to evaluate risk magnitude. The G allele and GT genotype frequencies of the G-706T polymorphism and the C allele and CC genotype of the C-778T polymorphism were significantly higher in patients with OA than in control subjects. The GG genotype of the G-706T was associated with lower risk of the development of OA of the knee. According to the results, the G-706T and the C-778T polymorphisms were related to the Cdx1 and Mzf1 transcription factor binding sites, respectively. Therefore, these could be related to regulation sequences in the CT gene promoter. In conclusion, G-706T and C-778T polymorphisms in the CT gene are significantly associated with the development of primary OA of the knee.

Efectos del láser de baja potencia en el tratamiento de la parálisis facial periférica aguda / Effects of low power laser in the treatment of acute peripheral facial paralysis

Introducción. La parálisis facial periférica es una afección altamente incidente, que puede generar complicaciones discapacitantes. No existe un tratamiento único para la misma. El láser infrarrojo es efectivo en la recuperación de la estructura y función de los nervios periféricos, aunque hay pocos estudios que exploren su utilidad clínica en la parálisis facial periférica. Material y métodos Se realizó un ensayo clínico aleatorizado doble ciego controlado. Se incluyeron pacientes mayores de 18 años con diagnóstico de parálisis facial periférica idiopática de menos de 7 días de evolución, sin tratamiento previo. Fueron distribuidos aleatoriamente en 2 grupos, uno con tratamiento rehabilitador convencional más placebo y otro con láser de GaAsAl de λ 830nm a dosis de 20J/cm2 en la emergencia del nervio facial. Se evaluó de forma ciega la fuerza muscular, la presencia de disacusia, disgeusia y epífora a los 0, 15, 30 y 60 días. Resultados. Se incluyeron 21 pacientes, 10 en el grupo control y 11 en el experimental. Ambos grupos tuvieron mejoría significativa en la fuerza muscular antes y después (p<0,001). Al compararlos entre ellos, el grupo de láser alcanzó una recuperación del 94,84% y el grupo control del 87,83% (p=0,24), en cuanto a la disgeusia, disacusia y epífora ambos grupos mostraron mejoría del 100%. Conclusión. El láser de baja potencia resultó exento de riesgo y con un efecto clínico moderado respecto a la recuperación de la fuerza muscular, no así respecto a la epífora, disgeusia y disacusia (AU)

Introduction. Peripheral facial paralysis is a very pathological condition that may generate disabling complications. There is no unique treatment for it. Infrared low power laser is effective in recovering the structure and function of peripheral nerves, although few studies have been conducted on its clinical use in peripheral facial paralysis. Material and methods. We performed a randomized double-blind controlled trial. Inclusion criteria were patients older than 18 years with a diagnosis of idiopathic peripheral facial paralysis of less than 7 days duration, with no previous treatment. The patients were randomized into two groups, one with conventional rehabilitation treatment plus placebo and another with GaAsAl of λ 830nm laser at doses of 20 joules/cm2 in the emergence of the facial nerve. Muscle strength, disacusia, dysgeusia and epiphora were evaluated in a blinded way at 0, 15, 30 and 60 days. Results. Twenty-one patients were included, 10 in the control group and 11 in the experimental one. Both groups showed significant improvement in muscle strength before and after treatment (P<.001). When a comparison was made between the groups, the laser group achieved recovery of 94.84% vs 87.83% in the control group (P=.24). Regarding dysgeusia, disacusia and epiphora, both groups showed 100% improvement. Conclusion. Low-power laser was safe and had a moderate clinical effect on the recovery of muscle strength, but not for the epiphora, dysgeusia and disacusia (AU)

Association of the calcitonin gene (CA) polymorphism with osteoarthritis of the knee in a Mexican mestizo population.

Osteoarthritis (OA) is the most common form of destructive joint disease that is characterized by the degeneration of the articular cartilage, synovial membrane, joint capsule, and subchondral bone. The knee is a joint commonly affected for OA. Calcitonin (CT) has been suggested to have chondroprotective effects; therefore, could play a role in the pathogenesis of OA of the knee. Genetic variations in or adjacent to the CT gene may be associated with primary OA development. We conducted a case-control association study in which we examined the correlation between a dinucleotide (cytosine-adenine, CA) repeat polymorphism at the CT locus and OA of the knee in 88 patients with OA and in 111 control subjects from the Mexican mestizo population. Allele A and genotype AG frequencies were significantly higher in patients with OA than in control subjects (56.3 vs. 43.2%; p<0.001 and 40.9 vs. 26.1%; p=0.027, respectively), and were associated with the presence of OA of the knee (odds ratio [OR], 2.62; 95% confidence interval [95% CI], 1.30-5.27, and OR, 1.93; 95% CI, 1.04-3.58, respectively) using a logistic regression model adjusted for gender, age and Body mass index (BMI). The GG genotype was associated with a lower risk of OA development of the knee; thus, it may constitute a protective factor against this disease (OR, 0.40; 95% CI, 0.16-0.98). In summary, we conclude that the dinucleotide CA polymorphism in the CT gene may become a useful marker for genetic studies of OA of the knee in Mexican population.

Steroid sulfatase activity in leukocytes: a comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency.

The enzyme steroid sulfatase (STS) hydrolyses 3-beta-hydroxysteroid sulfates. The female-male STS activity ratio is 1.04-1.7:1 in several cell lines in adults and reaches 2:1 in prepubertal subjects. In fibroblasts, STS values in X-chromosome abnormalities show a partial positive correlation according to the number of X-chromosomes. X-linked ichthyosis (XLI) carriers, with only one copy of the STS gene, present lower STS levels than normal controls. This study analyzes the STS activity in leukocytes of 46,Xi(Xq); 45,X; XLI carriers and normal controls using 7-[3H]-dehydroepiandrosterone sulfate as substrate. X-monosomy (1.07 +/- 0.18 pmol/mg protein/h), Xq isochromosome (1.02 +/- 0.12 pmol/mg protein/h) and normal females (1.03 +/- 0.11 pmol/mg protein/h) had similar STS values (p > 0.05). XLI-carriers and males showed the lowest STS levels (0.34 +/- 0.04 pmol/mg protein/h, p < 0.001 and 0.82 +/- 0.14 pmol/mg protein/h, p < 0.05, respectively). Female-male STS activity ratio in leukocytes was 1.3:1. These data indicate that a complex mechanism regulates the STS expression depending on each type of cell line.