Tratamiento de las fracturas supracondíleas de húmero en niños con fijación interna percutánea versus reducción sin fijación interna / Treatment of supracondylar fractures of humerus in children with percutaneous internal fixation versus reduction without internal fixation

Resumen: Introducción: Las fracturas supracondíleas de húmero constituyen el segundo tipo de fracturas más frecuente en niños. Objetivo: Describir los resultados del tratamiento, los pacientes según edad, sexo, complicaciones y resultados finales. Material y métodos: Se realizó un estudio descriptivo retrospectivo, en pacientes con fracturas supracondíleas de húmero durante los años 2018-2019. Se calcularon frecuencias absolutas y porcentajes. Resultados: Las fracturas fueron más frecuentes en el sexo masculino (69.6%) y en el grupo de edad de seis a 10 años para ambos sexos. 60.8% de las fracturas se trataron con reducción más fijación interna con agujas de Kirschner, en el grupo con fijación interna predominan las tipo IV y en el grupo que no necesitó fijación interna predominó el tipo I, la complicación más frecuente fue la pérdida de la reducción en el grupo que no se fijó con agujas. Se obtuvieron mejores resultados cuando se realizó la reducción combinada con fijación interna (91.2%). Conclusiones: Las fracturas predominaron en el sexo masculino y en el grupo de edad de seis a 10 años, fue más frecuente la reducción más fijación interna con agujas de Kirschner, en el grupo con fijación interna predomina las tipo IV, predominó la pérdida de la reducción en el grupo que no se fijó con agujas. Se obtuvieron mejores resultados cuando se realizó la reducción combinada con fijación interna.

Abstract: Introduction: Supracondylar fractures of humerus are the second most frequent type of fractures in children. Objective: To describe the results of the treatment, the patients according to age, sex, complications, and final results. Material and methods: A retrospective descriptive study was conducted in patients with supracondylar fractures of humerus during the years 2018-2019. Absolute frequencies and percentages were calculated. Results: Fractures were more frequent in males (69.6%) and in the age group of six to 10 years for both sexes. 60.8% of the fractures were treated with reduction plus internal fixation with Kirschner needles, in the group with internal fixation type IV predominates and in the group that does not need internal fixation predominate type I, the most frequent complication was the loss of reduction in the group that was not fixed with needles. Better results were obtained when the reduction was performed combined with internal fixation (91.2%). Conclusions: Fractures predominated in the male sex and in the age group of six to 10 years, the reduction was more frequent more internal fixation with Kirschner needles, in the group with internal fixation predominates type IV, predominated the loss of reduction in the group that was not fixed with needles. Better results were obtained when reduction was performed combined with internal fixation.

[Treatment of supracondylar fractures of humerus in children with percutaneous internal fixation versus reduction without internal fixation]. / Tratamiento de las fracturas supracondíleas de húmero en niños con fijación interna percutánea versus reducción sin fijación interna.

INTRODUCTION: Supracondylar fractures of humerus are the second most frequent type of fractures in children. OBJECTIVE: To describe the results of the treatment, the patients according to age, sex, complications, and final results. MATERIAL AND METHODS: A retrospective descriptive study was conducted in patients with supracondylar fractures of humerus during the years 2018-2019. Absolute frequencies and percentages were calculated. RESULTS: Fractures were more frequent in males (69.6%) and in the age group of six to 10 years for both sexes. 60.8% of the fractures were treated with reduction plus internal fixation with Kirschner needles, in the group with internal fixation type IV predominates and in the group that does not need internal fixation predominate type I, the most frequent complication was the loss of reduction in the group that was not fixed with needles. Better results were obtained when the reduction was performed combined with internal fixation (91.2%). CONCLUSIONS: Fractures predominated in the male sex and in the age group of six to 10 years, the reduction was more frequent more internal fixation with Kirschner needles, in the group with internal fixation predominates type IV, predominated the loss of reduction in the group that was not fixed with needles. Better results were obtained when reduction was performed combined with internal fixation.

INTRODUCCIÓN: Las fracturas supracondíleas de húmero constituyen el segundo tipo de fracturas más frecuente en niños. OBJETIVO: Describir los resultados del tratamiento, los pacientes según edad, sexo, complicaciones y resultados finales. MATERIAL Y MÉTODOS: Se realizó un estudio descriptivo retrospectivo, en pacientes con fracturas supracondíleas de húmero durante los años 2018-2019. Se calcularon frecuencias absolutas y porcentajes. RESULTADOS: Las fracturas fueron más frecuentes en el sexo masculino (69.6%) y en el grupo de edad de seis a 10 años para ambos sexos. 60.8% de las fracturas se trataron con reducción más fijación interna con agujas de Kirschner, en el grupo con fijación interna predominan las tipo IV y en el grupo que no necesitó fijación interna predominó el tipo I, la complicación más frecuente fue la pérdida de la reducción en el grupo que no se fijó con agujas. Se obtuvieron mejores resultados cuando se realizó la reducción combinada con fijación interna (91.2%). CONCLUSIONES: Las fracturas predominaron en el sexo masculino y en el grupo de edad de seis a 10 años, fue más frecuente la reducción más fijación interna con agujas de Kirschner, en el grupo con fijación interna predomina las tipo IV, predominó la pérdida de la reducción en el grupo que no se fijó con agujas. Se obtuvieron mejores resultados cuando se realizó la reducción combinada con fijación interna.

The impact of self-reported ethnicity versus genetic ancestry on phenotypic characteristics of polycystic ovary syndrome (PCOS).

CONTEXT: It is well established that ethnicity is associated with the phenotype of polycystic ovary syndrome (PCOS). Self-reported ethnicity was shown to be an inaccurate proxy for ethnic origin in other disease traits, and it remains unclear how in PCOS patients self-reported ethnicity compares with a biological proxy such as genetic ancestry. OBJECTIVE: We compared the impact of self-reported ethnicity versus genetic ancestry on PCOS and tested which of these 2 classifications better predicts the variability in phenotypic characteristics of PCOS. PATIENTS: A total of 1499 PCOS patients from The Netherlands, comprising 11 self-reported ethnic groups of European, African, American, and Asian descent were genotyped with the Illumina 610K Quad BeadChip and merged with the data genotyped with the Illumina HumanHap650K available for the reference panel collected by the Human Genome Diversity Project (HGDP), in a collaboration with the Centre Etude Polymorphism Humain (CEPH), including 53 populations for ancestry reference. MAIN OUTCOME MEASURES: Algorithms for inferring genetic relationships among individuals, including multidimensional scaling and ADMIXTURE, were applied to recover genetic ancestry for each individual. Regression analysis was used to determine the best predictor for the variability in PCOS characteristics. RESULTS: The association between self-reported ethnicity and genetic ancestry was moderate. For amenorrhea, total follicle count, body mass index, SHBG, dehydroepiandrosterone sulfate, and insulin, mainly genetic ancestry clusters ended up in the final models (P values < .004), indicating that they explain a larger proportion of variability of these PCOS characteristics compared with self-reported ethnicity. Especially variability of insulin levels seems predominantly explained by genetic ancestry. CONCLUSIONS: Self-reported ancestry is not a perfect proxy for genetic ancestry in patients with PCOS, emphasizing that by using genetic ancestry data instead of self-reported ethnicity, PCOS-relevant misclassification can be avoided. Moreover, because genetic ancestry explained a larger proportion of phenotypic variability associated with PCOS than self-reported ethnicity, future studies should focus on genetic ancestry verification of PCOS patients for research questions and treatment as well as preventive strategies in these women.

Genetic ancestry affects the phenotype of normogonadotropic anovulatory (WHOII) subfertility.

INTRODUCTION: Normogonadotropic (World Health Organization category II) anovulation is the most frequent cause of reduced fertility. Anovulation is associated with endocrine changes, i.e. hyperandrogenism, obesity, and insulin resistance. However, the phenotype is notoriously heterogeneous, depending on population characteristics and diagnostic criteria. OBJECTIVE: Our objective was to study the phenotype of normogonadotropic anovulatory women among various ethnic subgroups that coexist in an urban community (The Netherlands). Moreover, we studied whether genetic ancestry testing can be used to identify bio-geographic ancestry and predict the phenotype of individual patients. MATERIALS AND METHODS: A standardized clinical and endocrine examination was performed in 1517 normogonadotropic anovulatory women. Bio-geographic ancestry was ascertained by questionnaire and genetic testing (637 cases), using a set of 10 previously validated ancestry informative markers. RESULTS: Subgroups constituted individuals from northwestern European (n = 774), Mediterranean European (north of Sahara and Middle East, n = 220), African (n = 111), Southeast Asian (n = 53), and Hindustani (n = 83) origin. Phenotypic differences included fasting insulin levels, androgen levels, and the frequency of hyperandrogenism (ranging from 76% in Mediterranean-European women to 41% in northwestern European women). Genetic ancestry testing was able to identify population structure on a continental level, i.e. European, African and Southeast Asian descent. We did not observe improved informativeness when genotype data were added to the prediction model. CONCLUSION: Population differences add to the phenotype of normogonadotropic anovulation and need to be taken into account when evaluating the individual patient. Although effective on a continental level, the present set of ancestry markers was not sufficiently effective to describe all ethnic variation in the phenotype of anovulatory subfertility.

Chlorido(1,3-dimethyl-thio-urea-κS)bis-(triphenyl-phosphine-κP)copper(I) acetonitrile hemisolvate.

The title compound, [CuCl(C(3)H(8)N(2)S)(C(18)H(15)P)(2)]·0.5CH(3)CN, was prepared by the reaction of copper(I) chloride with 1,3-dimethyl-thio-urea (dmtu) and triphenyl-phosphine (PPh(3)) in acetonitrile. The Cu(I) atom has a distorted tetra-hedral environment formed by two P atoms from triphenyl-phosphine, one S atom from the dmtu ligand and one Cl atom. In addition, the mol-ecules exhibit intra- and inter-molecular N-H⋯Cl inter-actions.

Palaeogenetic evidence supports a dual model of Neolithic spreading into Europe.

The peopling of Europe is a complex process. One of the most dramatic demographic events, the Neolithic agricultural revolution, took place in the Near East roughly 10000 years ago and then spread through the European continent. Nevertheless, the nature of this process (either cultural or demographic) is still a matter of debate among scientists. We have retrieved HVRI mitochondrial DNA sequences from 11 Neolithic remains from Granollers (Catalonia, northeast Spain) dated to 5500 years BP. We followed the proposed authenticity criteria, and we were also able, for the first time, to track down the pre-laboratory-derived contaminant sequences and consequently eliminate them from the generated cloning dataset. Phylogeographic analysis shows that the haplogroup composition of the Neolithic population is very similar to that found in modern populations from the Iberian Peninsula, suggesting a long-time genetic continuity, at least since Neolithic times. This result contrasts with that recently found in a Neolithic population from Central Europe and, therefore, raises new questions on the heterogeneity of the Neolithic dispersals into Europe. We propose here a dual model of Neolithic spread: acculturation in Central Europe and demic diffusion in southern Europe.

Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.

Phenotypic variation between human populations in skin pigmentation correlates with latitude at the continental level. A large number of hypotheses involving genetic adaptation have been proposed to explain human variation in skin colour, but only limited genetic evidence for positive selection has been presented. To shed light on the evolutionary genetic history of human variation in skin colour we inspected 118 genes associated with skin pigmentation in the Perlegen dataset, studying single nucleotide polymorphisms (SNPs), and analyzed 55 genes in detail. We identified eight genes that are associated with the melanin pathway (SLC45A2, OCA2, TYRP1, DCT, KITLG, EGFR, DRD2 and PPARD) and presented significant differences in genetic variation between Europeans, Africans and Asians. In six of these genes we detected, by means of the EHH test, variability patterns that are compatible with the hypothesis of local positive selection in Europeans (OCA2, TYRP1 and KITLG) and in Asians (OCA2, DCT, KITLG, EGFR and DRD2), whereas signals were scarce in Africans (DCT, EGFR and DRD2). Furthermore, a statistically significant correlation between genotypic variation in four pigmentation candidate genes and phenotypic variation of skin colour in 51 worldwide human populations was revealed. Overall, our data also suggest that light skin colour is the derived state and is of independent origin in Europeans and Asians, whereas dark skin color seems of unique origin, reflecting the ancestral state in humans.

Extreme population differences across Neuregulin 1 gene, with implications for association studies.

Neuregulin 1 (NRG1) is one of the most exciting candidate genes for schizophrenia in recent years since its first association with the disease in an Icelandic population. Since then, many association studies have analysed allele and haplotype frequencies in distinct populations yielding varying results: some have replicated the association, although with different alleles or haplotypes being associated, whereas others have failed to replicate the association. These contradictory results might be attributed to population differences in allele and haplotype frequencies. In order to approach this issue, we have typed 13 SNPs across this large 1.4 Mb gene, including two of the SNPs originally found associated with schizophrenia in the Icelandic population, the objective being to discover if the underlying cause of the association discrepancies to date may be due to population-specific genetic variation. The analyses have been performed in a total of 1088 individuals from 39 populations, covering most of the genetic diversity in the human species. Most of the SNPs analysed displayed differing frequencies according to geographical region. These allele differences are especially relevant in two SNPs located in a large intron of the gene, as shown by the extreme F(ST) values, which reveal genetic stratification correlated to broad continental areas. This finding may be indicative of the influence of some local selective forces on this gene. Furthermore, haplotype analysis reveals a clear clustering according to geographical areas. In summary, our findings suggest that NRG1 presents extreme population differences in allele and haplotype frequencies. We have given recommendations for taking this into account in future association studies since this diversity could give rise to erroneous results.

The genetics of the pre-Roman Iberian Peninsula: a mtDNA study of ancient Iberians.

The Iberians developed a surprisingly sophisticated culture in the Mediterranean coast of the Iberian Peninsula from the 6th century BC until their conquest by the Romans in the 2nd century BC. They spoke and wrote a non-Indo-European language that still cannot be understood; their origins and relationships with other non-Indo-European peoples, like the Etruscans, are unclear, since their funerary practices were based on the cremation of bodies, and therefore anthropology has been unable to approach the study of this people. We have retrieved mitochondrial DNA (mtDNA) from a few of the scarce skeletal remains that have been preserved, some of them belonging to ritualistically executed individuals. The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. Phylogeographic analyses show that the haplogroup composition of the ancient Iberians was very similar to that found in modern Iberian Peninsula populations, suggesting a long-term genetic continuity since pre-Roman times. Nonetheless, there is less genetic diversity in the ancient Iberians than is found among modern populations, a fact that could reflect the small population size at the origin of the population sampled, and the heterogenic tribal structure of the Iberian society. Moreover, the Iberians were not especially closely related to the Etruscans, which points to considerable genetic heterogeneity in Pre-Roman Western Europe.

Haplotype tagging efficiency in worldwide populations in CTLA4 gene.

The cytotoxic T lymphocyte antigen 4 (CTLA4) acts as a potent negative regulator of T-cell response, and has been suggested as a pivotal candidate gene for autoimmune disorders such as Graves' disease, type 1 diabetes and autoimmune hypothyroidism, among others. Several single-nucleotide polymorphisms (SNPs) have been proposed as the susceptibility variants, or to be in strong linkage disequilibrium (LD) with the variant. Nevertheless, contradictory results have been found, which may be due to lack of knowledge of the genetic structure of CTLA4 and its geographic variation. We have typed 17 SNPs throughout the CTLA4 gene region in order to analyze the haplotype diversity and LD structure in a worldwide population set (1262 individuals from 44 populations) to understand the variation pattern of the region. Allele and haplotype frequency differentiation between populations is consistent with genomewide averages and points to a lack of strong population-specific selection pressures. LD is high and its pattern is not significantly different within or between continents. However, haplotype composition is significantly different between geographical groups. A continent-specific set of haplotype tagging SNPs has been designed to be used for future association studies. These are portable among populations, although their efficiency might vary depending on the population haplotype spectrum.

Laparoscopic adrenalectomy: 100 resections with clinical long-term follow-up.

BACKGROUND: The operative results of 100 laparoscopic adrenal resections in 94 patients and the subsequent impact on postoperative antihypertensive therapy are presented. METHODS: Clinical and follow-up data for resections performed between 1995 and 2003 were obtained from medical records, patient questionnaires, and telephone interviews. RESULTS: The diseases included Conn's syndrome (27 patients), Cushing's syndrome (30 patients), pheochromocytoma (11 patients), and Other tumors (26 patients). Antihypertensive therapy was eliminated or reduced for Conn's syndrome (75%), Cushing's syndrome (27%), pheochromocytoma (88%) and patients with Other tumors (54%). Clinical improvement was observed by 12 months for pheochromocytoma patients as compared with 35 to 45 months for the other groups (p < 0.05). Multivariate analysis showed that pheochromocytoma patients were more likely to experience improvement or cure than the Other tumor group (hazard ratio, 4.87; 95% confidence interval, 1.61-14.7). CONCLUSIONS: Laparoscopic adrenalectomy continues to be safe and efficacious for benign adrenal diseases. Although patients with functional tumors can expect improvement or cure, the time until improvement may be longer than previously recognized.

Worldwide genetic analysis of the CFTR region.

Mutations at the cystic fibrosis transmembrane conductance regulator gene (CFTR) cause cystic fibrosis, the most prevalent severe genetic disorder in individuals of European descent. We have analyzed normal allele and haplotype variation at four short tandem repeat polymorphisms (STRPs) and two single-nucleotide polymorphisms (SNPs) in CFTR in 18 worldwide population samples, comprising a total of 1,944 chromosomes. The rooted phylogeny of the SNP haplotypes was established by typing ape samples. STRP variation within SNP haplotype backgrounds was highest in most ancestral haplotypes-although, when STRP allele sizes were taken into account, differences among haplotypes became smaller. Haplotype background determines STRP diversity to a greater extent than populations do, which indicates that haplotype backgrounds are older than populations. Heterogeneity among STRPs can be understood as the outcome of differences in mutation rate and pattern. STRP sites had higher heterozygosities in Africans, although, when whole haplotypes were considered, no significant differences remained. Linkage disequilibrium (LD) shows a complex pattern not easily related to physical distance. The analysis of the fraction of possible different haplotypes not found may circumvent some of the methodological difficulties of LD measure. LD analysis showed a positive correlation with locus polymorphism, which could partly explain the unusual pattern of similar LD between Africans and non-Africans. The low values found in non-Africans may imply that the size of the modern human population that emerged "Out of Africa" may be larger than what previous LD studies suggested.