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INTRODUCTION: in patients with anterior glenohumeral (GH) instability together with an off-track or engaging Hill-Sachs (HS) defect, Bankart-remplissage (B-R) surgery reduces the recurrence rate when compared to Bankart (B) surgery alone. There is controversy regarding whether the recurrence rate also decreases in patients with on-track or non-engaging Hill-Sachs defects. OBJECTIVE: to compare the recurrence rate and clinical evolution of patients with anterior glenohumeral instability with 'on-track' Hill-Sachs defect treated with either B or B-R surgery. MATERIAL AND METHODS: non-randomized, retrospective, single-center cohort study of patients with anterior glenohumeral instability and on-track Hill-Sachs defect, operated between January 2010 and December 2018. Patients operated with B versus B-R were compared. Recurrence, complications and re-operation were recorded. In addition, VAS, SSV, WOSI and qDASH scores were obtained and compared in both groups. RESULTS: of the 105 patients who met the inclusion criteria, 78 (74.3%) patients had a complete follow-up (52 B and 26 B-R, 4.3 years median follow-up). There was a higher recurrence rate in group B compared to B-R, with this difference not reaching statistical significance (17.3% vs 7.7%, p = 0.21). There were no significant differences in residual pain, feeling of instability, complications or VAS, qDASH, SSV or WOSI scores between both groups. In the subgroup analysis, patients who practiced contact sports and were operated with B showed higher recurrence rates (24.1% vs 0%, p = 0.08) and complications (41.4% vs 18.2%, p = 0.16) when compared to B + R, although these differences were not significant. CONCLUSION: there were no significant differences in recurrence rates and functional evolution between patients with anterior glenohumeral instability operated with B or B-R surgery. Comparative, prospective studies should be performed to establish definitive recommendations.
INTRODUCCIÓN: en pacientes con inestabilidad glenohumeral (GH) anterior con defecto de Hill-Sachs (HS) off-track o enganchante, Bankart-remplissage (B + R) reduce tasa de recurrencia en comparación a Bankart aislado (B). Hay controversia si tasa de recurrencia también disminuye en pacientes con defecto de HS on-track o no enganchantes. OBJETIVO: comparar la tasa de recurrencia y evolución clínica entre la cirugía de B versus B-R en pacientes operados por inestabilidad glenohumeral anterior con defecto de Hill-Sachs on-track. MATERIAL Y MÉTODOS: estudio de cohorte, no randomizado, retrospectivo y unicéntrico, en pacientes operados por inestabilidad glenohumeral anterior, entre Enero 2010 y Diciembre de 2018. Se incluyen sólo pacientes con defecto de Hill-Sachs on-track. Fueron comparados pacientes operados con cirugía de B versus B + R. Se consigna recurrencia, complicación, reoperación y sensación de inestabilidad. Además, se realizan y comparan puntajes de EVA, SSV, WOSI y qDASH. RESULTADOS: de los 105 pacientes que cumplieron criterios de inclusión, 78 (74.3%) realizaron seguimiento completo (52 B y 26 B + R, 4.3 años mediana de seguimiento). Hubo mayor tasa de recurrencia en grupo B en comparación a B + R, siendo esta diferencia no significativa (17.3% versus 7.7%, p = 0.21). No hubo diferencia significativa en dolor residual, sensación de inestabilidad residual, complicaciones o puntajes de escala EVA, qDASH, SSV ni WOSI. En análisis por subgrupo, pacientes con deportes de contacto, B tienen mayor tasa de recurrencia (24.1% versus 0%, p = 0.08) y complicaciones comparadas con B + R (41.4% versus 18.2%, p = 0.16), siendo estas diferencias no significativas. CONCLUSIÓN: no hubo diferencias significativas en tasa de recurrencia y evolución funcional entre cirugía de Bankart aislado o Bankart-remplissage para inestabilidad glenohumeral anterior asociada a defecto de Hill-Sachs on-track. Estudios comparativos, prospectivos deben realizarse para establecer recomendaciones definitivas.
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Lesões de Bankart , Instabilidade Articular , Luxação do Ombro , Articulação do Ombro , Humanos , Articulação do Ombro/cirurgia , Estudos de Coortes , Luxação do Ombro/cirurgia , Estudos Retrospectivos , Ombro , Estudos Prospectivos , Instabilidade Articular/cirurgia , Instabilidade Articular/etiologia , Artroscopia , Lesões de Bankart/cirurgia , RecidivaRESUMO
Resumen: Introducción: en pacientes con inestabilidad glenohumeral (GH) anterior con defecto de Hill-Sachs (HS) off-track o enganchante, Bankart-remplissage (B + R) reduce tasa de recurrencia en comparación a Bankart aislado (B). Hay controversia si tasa de recurrencia también disminuye en pacientes con defecto de HS on-track o no enganchantes. Objetivo: comparar la tasa de recurrencia y evolución clínica entre la cirugía de B versus B-R en pacientes operados por inestabilidad glenohumeral anterior con defecto de Hill-Sachs on-track. Material y métodos: estudio de cohorte, no randomizado, retrospectivo y unicéntrico, en pacientes operados por inestabilidad glenohumeral anterior, entre Enero 2010 y Diciembre de 2018. Se incluyen sólo pacientes con defecto de Hill-Sachs on-track. Fueron comparados pacientes operados con cirugía de B versus B + R. Se consigna recurrencia, complicación, reoperación y sensación de inestabilidad. Además, se realizan y comparan puntajes de EVA, SSV, WOSI y qDASH. Resultados: de los 105 pacientes que cumplieron criterios de inclusión, 78 (74.3%) realizaron seguimiento completo (52 B y 26 B + R, 4.3 años mediana de seguimiento). Hubo mayor tasa de recurrencia en grupo B en comparación a B + R, siendo esta diferencia no significativa (17.3% versus 7.7%, p = 0.21). No hubo diferencia significativa en dolor residual, sensación de inestabilidad residual, complicaciones o puntajes de escala EVA, qDASH, SSV ni WOSI. En análisis por subgrupo, pacientes con deportes de contacto, B tienen mayor tasa de recurrencia (24.1% versus 0%, p = 0.08) y complicaciones comparadas con B + R (41.4% versus 18.2%, p = 0.16), siendo estas diferencias no significativas. Conclusión: no hubo diferencias significativas en tasa de recurrencia y evolución funcional entre cirugía de Bankart aislado o Bankart-remplissage para inestabilidad glenohumeral anterior asociada a defecto de Hill-Sachs on-track. Estudios comparativos, prospectivos deben realizarse para establecer recomendaciones definitivas.
Abstract: Introduction: in patients with anterior glenohumeral (GH) instability together with an off-track or engaging Hill-Sachs (HS) defect, Bankart-remplissage (B-R) surgery reduces the recurrence rate when compared to Bankart (B) surgery alone. There is controversy regarding whether the recurrence rate also decreases in patients with on-track or non-engaging Hill-Sachs defects. Objective: to compare the recurrence rate and clinical evolution of patients with anterior glenohumeral instability with 'on-track' Hill-Sachs defect treated with either B or B-R surgery. Material and methods: non-randomized, retrospective, single-center cohort study of patients with anterior glenohumeral instability and on-track Hill-Sachs defect, operated between January 2010 and December 2018. Patients operated with B versus B-R were compared. Recurrence, complications and re-operation were recorded. In addition, VAS, SSV, WOSI and qDASH scores were obtained and compared in both groups. Results: of the 105 patients who met the inclusion criteria, 78 (74.3%) patients had a complete follow-up (52 B and 26 B-R, 4.3 years median follow-up). There was a higher recurrence rate in group B compared to B-R, with this difference not reaching statistical significance (17.3% vs 7.7%, p = 0.21). There were no significant differences in residual pain, feeling of instability, complications or VAS, qDASH, SSV or WOSI scores between both groups. In the subgroup analysis, patients who practiced contact sports and were operated with B showed higher recurrence rates (24.1% vs 0%, p = 0.08) and complications (41.4% vs 18.2%, p = 0.16) when compared to B + R, although these differences were not significant. Conclusion: there were no significant differences in recurrence rates and functional evolution between patients with anterior glenohumeral instability operated with B or B-R surgery. Comparative, prospective studies should be performed to establish definitive recommendations.
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The objective of this study was to select and characterize agronomically the advanced bread wheat line H - 1246 which gave origin to the INIA wheat variety 440 - K'ANCHAREQ. The research included yield trials in farmers' fields during 4 production seasons (2012-2016), adaptation and agronomic efficiency trials in two production seasons (2016-2018). In addition, the reaction to Yellow Rust and distinctness, uniformity and stability characteristics of the new wheat variety and commercial controls were evaluated. The plots for each of the trials were conducted under a Completely Randomized Block design with three replications. At the end of the trials, desirable characteristics in the baking industry such as hectoliter weight, protein, ash, gluten and flour moisture were evaluated. The results showed that the new INIA 440 - K'ANCHAREQ variety has ten clear differences in qualitative characteristics, which distinguish it from other varieties and remained constant during the trials. The yield trials between locations showed the adaptation of the INIA 440 - K'ANCHAREQ variety to the different locations due to its high yield and hectoliter weight values. At the locality level, Andenes obtained the highest values in most of the production seasons. Adaptation trials during the second season showed the superiority of the new INIA 440 - K'ANCHAREQ variety for variables such as yield, plant height, ear size and thousand grain weight. The new variety showed no signs of stripe rust during the trials. Industrial quality trials indicated that it has good characteristics for the baking industry.
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Ethanol has been described as a teratogen in vertebrate development. During early stages of brain formation, ethanol affects the evagination of the optic vesicles, resulting in synophthalmia or cyclopia, phenotypes where the optic vesicles partially or totally fuse. The mechanisms by which ethanol affects the morphogenesis of the optic vesicles are however largely unknown. In this study we make use of in situ hybridization, electron microscopy and immunohistochemistry to show that ethanol has profound effects on cell organization and gene expression during the evagination of the optic vesicles. Exposure to ethanol during early eye development alters the expression patterns of some genes known to be important for eye morphogenesis, such as rx3/1 and six3a. Furthermore, exposure to ethanol interferes with the acquisition of neuroepithelial features by the eye field cells, which is clear at ultrastructual level. Indeed, ethanol disrupts the acquisition of fusiform cellular shapes within the eye field. In addition, tight junctions do not form and retinal progenitors do not properly polarize, as suggested by the mis-localization and down-regulation of zo1. We also show that the ethanol-induced cyclopic phenotype is significantly different to that observed in cyclopic mutants, suggesting a complex effect of ethanol on a variety of targets. Our results show that ethanol not only disrupts the expression pattern of genes involved in retinal morphogenesis, such as rx3 and rx1, but also disrupts the changes in cell polarity that normally occur during eye field splitting. Thus, ethylic teratology seems to be related not only to modifications in gene expression and cell death but also to alterations in cell morphology.
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Depressores do Sistema Nervoso Central/farmacologia , Etanol/farmacologia , Proteínas do Olho/biossíntese , Olho/crescimento & desenvolvimento , Expressão Gênica/efeitos dos fármacos , Animais , Morte Celular , Embrião não Mamífero , Olho/efeitos dos fármacos , Proteínas do Olho/genética , Regulação da Expressão Gênica no Desenvolvimento , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Hibridização In Situ , Marcação In Situ das Extremidades Cortadas , Microscopia Eletrônica , Morfogênese , Mutação/fisiologia , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real , Junções Íntimas/genética , Junções Íntimas/fisiologia , Campos Visuais/fisiologia , Peixe-Zebra , Proteína da Zônula de Oclusão-1/biossíntese , Proteína da Zônula de Oclusão-1/genéticaRESUMO
Non-syndromic cleft lip/palate (NSCLP) is a complex genetic trait. Linkage and association studies have suggested that a clefting locus could be located on chromosome 4p. Sixty Chilean families were recruited for this study; from these, we used unrelated trios to evaluate the possible linkage disequilibrium between MSX1 and NSCLP. An intragenic marker, MSX1-CA, and an extragenic marker, D4S432 at a distance of 0.8 cM from MSX1, were analyzed by means of polymerase chain-reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. We carried out a transmission/disequilibrium test (TDT) for multiple alleles to evaluate the presence of linkage disequilibrium. Results showed a preferential transmission of the 169-bp allele of MSX1 (p = 0.03). Although there was no preferential transmission for the D4S432 marker, the overall extended TDT (ETDT) showed a significant result (p = 0.01). The authors' findings support the hypothesis of the contribution of MSX1 in the etiology of NSCLP in the Chilean population.
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Cromossomos Humanos Par 4/genética , Fenda Labial/genética , Fissura Palatina/genética , Proteínas de Homeodomínio/genética , Fatores de Transcrição/genética , Adulto , Criança , Pré-Escolar , Chile , Marcadores Genéticos , Humanos , Desequilíbrio de Ligação/genética , Fator de Transcrição MSX1 , Método de Monte Carlo , PaisRESUMO
BACKGROUND: Genetic studies indicate that nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Reports from different authors have suggested several candidate genes mapping in different chromosome regions. Association studies have suggested that a clefting locus is located on chromosome 6p. On these grounds we have investigated the possible association between five microsatellite markers located on 6p22-25 and NSCLP. AIM: To test the hypothesis on the possible association of a clefting locus with microsatellite markers located in 6p22-25. PATIENTS AND METHODS: The sample consisted of 54 unrelated case-parent trios that comprise 54 NSCLP probands and 108 parents. Five microsatellite markers spanning the region 6p22-25 were analyzed for each individual by means of polymerase chain reaction with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. Nonparametric ETDT and MCETDT programs, were used to analyze the genotype data. RESULTS: The family based association study showed that for the genotype wise analysis, only D6S259 presented a significant p-value (0.03). Nevertheless no individual allele of this marker showed an evident preferential transmission from heterozygous parents to affected offspring. CONCLUSIONS: The results of the present study do not show a clear evidence that a candidate gene for NSCLP may be located within or near the analyzed chromosome region in our sample. Nevertheless, it must be emphasized that the genotype wise analysis shows a significant p-value for D6S259 marker.
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Humanos , Ligação Genética , Alelos , /genética , Fissura Palatina/genética , Repetições de Microssatélites/genética , Chile , Genótipo , Mapeamento Cromossômico , Marcadores Genéticos , Predisposição Genética para DoençaRESUMO
Prior studies have implicated an involvement of the Msx1 homeobox gene in cleft palate in mice and its homolog in humans (called MSX1 in the HOX7 gene, located on chromosome 4). In this study we present evidence of a sex-dependent association between MSX1 and non-syndromic cleft lip/palate (NSCLP) in the Chilean population. The sample included 73 NSCLP cases, 37 from multiplex families (Mx), 36 from simplex families (Sx), and 87 controls. Polymerase chain reaction amplification of the MSX1 intragenic microsatellite (CA)n-sequence shows significant (p = 0.035) differences in the allele frequencies between NSCLP-Mx males and control males. These differences are mainly due to frequency differences in allele *2 (173 base pairs) among cases (21.9%) and controls (13.2%). When the NSCLP cases are subdivided by sex and positive family history (Mx versus Sx), the Mx males (27.8%) as well as the total NSCLP-Mx cases (25.7%) showed significantly higher frequencies of allele *2, compared to controls (11.4% and 13.2%, respectively). Analysis of the genotype data indicates that the relative risk for NSCLP is greater for persons carrying allele *2 (i.e., odds ratio [OR] larger than 1), reaching significance for all Mx cases (OR = 2.67; 95% confidence interval [CI], 1.10 to 6.52) and even more pronounced for Mx males (OR = 3.33; 95% CI, 1.08 to 10.32). Taken together, these findings support the hypothesis that the genetic variation at the MSX1 locus is a predisposing gene involved in sex-dependent susceptibility to clefting and that it also differentiates simplex from multiplex families.
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Cromossomos Humanos Par 4/genética , Fenda Labial/genética , Estudos de Casos e Controles , Chile , Feminino , Humanos , Masculino , Risco , Fatores Sexuais , Fatores SocioeconômicosRESUMO
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial developmental defect. Association studies have suggested that a clefting locus is located on chromosome 6p at or near two possible loci, Factor 13A (FI3A) in the region 6p 25-24 and HLA at 6p 21.3. AIM: To test the hypothesis on the possible presence of a major gene on chromosome 6p associated with NSCLP. PATIENTS AND METHODS: We carried out an association study on a sample of unrelated NSCLP patients from multiplex (Mx) and simplex (Sx) families, of their unaffected relatives and in control individuals. DNA was analyzed with three PCR markers close to the putative NSCLP locus, dinucleotide repeats at loci D6S89, D6S109 and D6S105. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of chi 2 log ratio. RESULTS: Significant differences were observed when comparing the allele frequency distribution of D6S89 in patients with NSCLP and controls and in patients with NSCLP-Mx and controls. No significant differences were observed for patients with NSCLP-Sx. D6S109 and D6S105 showed no significant differences in any of the comparisons. CONCLUSIONS: Our results support the hypothesis that a NSCLP locus maps on 6p23 very close to D6S89. Results for D6S109 and D6S105 do not show a clear association. Differences observed between NSCLP-MX and Sx families seem to represent different etiologic entities. The results of the present study, plus those already published for candidate loci, TGFA and MSX1, support the hypothesis that several interacting major genes participate in the etiology of NSCLP.
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Cromossomos Humanos Par 6/genética , Fenda Labial/genética , Fissura Palatina/genética , Repetições de Microssatélites , Alelos , Distribuição de Qui-Quadrado , Chile , DNA/análise , Humanos , Fenótipo , População BrancaRESUMO
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial defect. Association studies have suggested that a clefting locus is located on chromosome 4q at or near two microsatellite markers D4S175 and D4S192. AIM: To test the hypothesis on the possible presence of a clefting locus on chromosome 4q. MATERIAL AND METHODS: We carried out an association study on a sample of unrelated NSCLP patients, of their unaffected relatives and in controls. Both probands and relatives were further analyzed depending if they originated from simplex or multiplex families. DNA was analyzed with two PCR markers close to the putative NSCLP locus, dinucleotide repeats D4S175 and D4S192. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of chi 2 log ratio. RESULTS: Significant differences between NSCLP and controls were observed when comparing the allele frequency distribution of D4S192 both in the total sample as well as in NSCLP-multiplex and simplex cases. No significant differences for D4S175 were observed in any of the comparisons. Unaffected relatives showed significant differences with controls both for D4S175 and D4S192. CONCLUSIONS: Our results support the hypothesis that a NSCLP locus maps on chromosome 4q close to the microsatellite marker D4S192. No differences were observed between NSCLP multiplex and simplex cases versus controls, implying that they do not represent different etiologic entities. The results of the present and previous studies in the same group of patients support the hypothesis that several major interacting genes participate in the etiology of NSCLP.
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Cromossomos Humanos Par 4/genética , Fenda Labial/genética , Fissura Palatina/genética , Repetições de Dinucleotídeos/genética , Alelos , Estudos de Casos e Controles , Chile , DNA/análise , Predisposição Genética para Doença , Humanos , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. AIM: To study the linkage between non syndromic cleft palate and variations of MSX1 gene. PATIENTS AND METHODS: Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. RESULTS: A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. CONCLUSIONS: These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.
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Fenda Labial/genética , Fissura Palatina/genética , Variação Genética , Proteínas de Homeodomínio/genética , Caracteres Sexuais , Fatores de Transcrição , Alelos , Chile , Feminino , Frequência do Gene , Heterogeneidade Genética , Humanos , Fator de Transcrição MSX1 , MasculinoRESUMO
Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected (chi 2 = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but do not support the hypothesis that TGFA is a major causal gene of CL(P).
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Fenda Labial/genética , Fissura Palatina/genética , Fator de Crescimento Transformador alfa/genética , Alelos , Chile , DNA/análise , Feminino , Genótipo , Haplótipos , Humanos , Masculino , Polimorfismo de Fragmento de RestriçãoRESUMO
Kinetoplast DNA was isolated from Chilean Trypanosoma cruzi populations and digested with the restriction endonucleases EcoRI, HinfI, HpaII, MspI, and HaeIII. Three major schizodeme groups were discriminated. There was a correlation between the Chilean schizodeme groups (S1, S2, or S3) and the zymodemes known to occur in Chile (Z1, Brazilian Z2 and Bolivian Z2, respectively), although heterogeneity was seen within the schizodeme groups S2 and S3. Standard Brazilian and Bolivian T. cruzi clones (X10 clone 1, Esmeraldo clone 3, SC43 clone 1, and CAN III clone 1) and laboratory strains (Tulahuen and Y) were included in the schizodeme comparisons. SC43 clone 1 had obvious affinities with S3 and X10 clone 1 shared some features with S1 but the other reference stocks could not be definitely assigned to S1, S2, or S3. Fragment patterns and densitometric traces following digestion with HpaII or MspI suggested that kDNA sequences were not methylated.