430 research outputs found

    Inicio de una investigación de diseño sobre el desarrollo de competencias numéricas con niños de 4 años

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    En esta investigación de diseño sobre el desarrollo de competencias numéricas, describimos el comienzo de un taller de resolución de problemas con niños de 4 y 5 años. Aspiramos a lograr una complementariedad metodológica al incorporar, dentro de la investigación de diseño, el uso del Test de Competencia Matemática Básica (TEMA-3). Con él pretendemos evaluar el desarrollo de las competencias numéricas de los niños durante el curso. Además, dado que uno de los objetivos de la investigación es el desarrollo del currículo de Educación Infantil, a través de la elaboración del taller, deseamos valorar la idoneidad del TEMA-3 para un posible estudio posterior sobre la eficiencia de la intervención a través del taller

    Trasplante pancreático

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    Diabetes mellitus is a health concern of the first order, given the high level of associated morbidity and mortality. The objective, in order to slow down the advance of its complications before they become irreversible, is based on correct metabolic control. The high rate of morbidity associated with the surgery of the vascularized pancreas transplant and the high index of rejection have for three decades formed an obstacle to this being considered a valid alternative in the treatment of these patients. Nowadays the pancreas transplant has come to occupy a key position, thanks to the new regimes of immunosuppression and to the perfection of surgical techniques. In this article we review the evolution of the pancreas transplant from its beginnings to its present state

    Cirugía laparoscópica hepática y pancreática

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    The development of laparoscopic surgery also includes the more complex procedures of abdominal surgery such as those that affect the liver and the pancreas. From diagnostic laparoscopy, accompanied by laparoscopic echography, to major hepatic or pancreatic resections, the laparoscopic approach has spread and today encompasses practically all of the surgical procedures in hepatopancreatic pathology. Without forgetting that the aim of minimally invasive surgery is not a better aesthetic result but the reduction of postoperative complications, it is undeniable that the laparoscopic approach has brought great benefits for the patient in every type of surgery except, for the time being, in the case of big resections such as left or right hepatectomy or resections of segments VII and VIII. Pancreatic surgery has undergone a great development with laparoscopy, especially in the field of distal pancreatectomy due to cystic and neuroendocrine tumours where the approach of choice is laparoscopic. Laparoscopy similarly plays an important role, together with echolaparoscopy, in staging pancreatic tumours, prior to open surgery or for indicating suitable treatment. In coming years, it is to be hoped that it will continue to undergo an exponential development and, together with the advances in robotics, it will be possible to witness a greater impact of the laparoscopic approach on the field of hepatic and pancreatic surgery

    Cirugía bariátrica laparoscópica: bypass gástrico proximal

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    The spectacular increase in the prevalence of obesity in our society and the significant complications and comorbidities that it gives rise to have stimulated the interest of scientists and public in this pathology. Surgical treatment is at present the only efficient and lasting treatment for morbid obesity and in many cases it appreciably improves, and even definitively cures, associated complications such as the case of diabetes or hypertension. Amongst the different techniques of bariatric surgery, the gastric bypass (GBP) seems to be definitively establishing itself, since it offers an excellent balance between loss of weight (>70% of the excess), surgical risk and subsequent quality of life. The possibility of carrying out this technique employing a laparoscopic approach has improved its acceptance by doctors and patients while it has made it possible to reduce morbidity and mortality, length of hospital stay and costs. Proximal GBP is carried on those patients with an BMI 60 Kg/m2 the GBP employed is denominated distal. Between October 2003 and November 2005, our centre performed 55 laparoscopic proximal Roux-en-Y gastric bypasses via laparoscopy. These involved 42 women and 13 males with an average age of 44 years. The average BMI was 43.5 (35-55.8). The average basal weight was 116.15 Kg. There was no peroperative mortality, nor reinterventions. The BMI after 12 months was 28.4. The average basal weight was 74.2 Kg. Laparoscopic Roux-en-Y proximal gastric bypass is a safe and efficient technique for the treatment of morbid obesity

    Oncological safety of transanal total mesorectal excision (TaTME) for rectal cancer: mid-term results of a prospective multicentre study

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    Background There is no consensus regarding the gold standard technique for rectal cancer as Total Mesorectal Excision (TME) may be safely performed either by open or minimally invasive surgery. The laparoscopic approach, however, may carry technical difficulties. For this reason, a novel technique has emerged in the last decade combining a dual laparoscopic dissection (abdominal and transanal) to perform the TME technique (TaTME). When focusing on oncological outcomes, there is a lack of literature regarding mid-long term results. The aim of this study is to evaluate the mid-term oncological impact of TaTME for treating rectal cancer. Methods A prospective multicentre study was performed in four tertiary centres including consecutive patients who underwent TaTME for mid-low rectal cancer by the same group of experienced surgeons. The analysed data included pathological results on the quality of TME and mid-term oncological outcomes. Results In total, 173 patients were included throughout a study period of 6 years. Our series included 70% males and 68% of patients with neoadjuvant treatments. The median follow-up was 23 [15–37.5] months. Regarding pathological results, a complete TME was achieved in 72.8%, while circumferential and distal margins were affected in 1.4 and 1.1%, respectively. Five patients developed local recurrences (3%) and 8.1% presented distant disease during the follow-up. The 2-year disease-free survival and the overall survival rates were 88% and 95%, respectively. Conclusions There is currently a lack of evidence in the literature regarding TaTME and oncological outcomes with no data available from randomized clinical trials. In the meantime, the reported results from different multicentre series are controversial. This study showed positive mid-term outcomes at 2 years of follow-up and supported notable oncological outcomes with TaTME. However, it must be emphasized that previous experience in minimally invasive and transanal surgeries is essential for surgeons before intending to perform TaTME

    Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort

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    INTRODUCTION: Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic developments in next-generation sequencing (NGS), high-throughput sequencing of targeted genomic regions of the human genome in many individuals in a single run is now cheap and feasible. Recent findings favor the rare variant-common disease hypothesis by which the combination effects of rare variants could explain a large proportion of the heritability. We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort. METHODS: We performed pooled-DNA sequencing of each exon and flanking sequences in APP, PSEN1, PSEN2, MAPT and GRN in 167 clinical and 5 autopsy-confirmed AD cases (15 familial early-onset, 136 sporadic early-onset and 16 familial late-onset) from Spain and Uruguay using NGS. Follow-up genotyping was used to validate variants. After genotyping additional controls, we performed segregation and functional analyses to determine the pathogenicity of validated variants. RESULTS: We identified a novel G to T transition (g.38816G>T) in exon 6 of PSEN1 in a sporadic early-onset AD case, resulting in a previously described pathogenic p.L173F mutation. A pathogenic p.L392V mutation in exon 11 was found in one familial early-onset AD case. We also identified a novel CC insertion (g.10974_10975insCC) in exon 8 of GRN, which introduced a premature stop codon, resulting in nonsense-mediated mRNA decay. This GRN mutation was associated with lower GRN plasma levels, as previously reported for other GRN pathogenic mutations. We found two variants in MAPT (p.A152T, p.S318L) present only in three AD cases but not controls, suggesting that these variants could be risk factors for the disease. CONCLUSIONS: We found pathogenic mutations in PSEN1, GRN and MAPT in 2.33% of the screened cases. This study suggests that pathogenic mutations or risk variants in MAPT and in GRN are as frequent in clinical AD cases as mutations in APP, PSEN1 and PSEN2, highlighting that pleiotropy of MAPT or GRN mutations can influence both FTD and AD phenotypic traits

    Secuelas tras inyección ilegal de silicona líquida como técnica de aumento mamario: presentación de 2 casos

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    The use of liquid silicone for breast augmentation was widespread in the 1960s but was abandoned at the end of the decade due to numerous studies describing the development of a large number of local complications, as well as remote migration of small amounts of silicone. The use of liquid silicone also leads to enormous difficulty in the early diagnosis of breast cancer; these patients are precluded from routine screening programs and must undergo exhaustive periodic examinations. Magnetic resonance imaging has become the most effective test for the early detection of breast cancer in these patients. Indications for subcutaneous mastectomy are the presence of local complications, suspicion of a malignant lesion, or the patient’s desire to prevent both these potential problems

    Proteínas morfogenéticas óseas (BMPs): Efecto de la proteína osteogénica-1 (OP-l/BMP-7) en la condrogénesis y osteogenesis

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    En la actualidad, los estudios sobre biología molecular han facilitado el análisis de ciertos factores de transformación del crecimiento tipo ß(TGF-ß)I, entre los que destaca una familia de proteínas morfogenéticas óseas (BMPs). Las técnicas de ingeniería genética han permitido replicar alguno de estos factores y localizar los genes que codifican dichas proteínas. La proteína osteogenics-1 (OP-1) ha sido caracterizada y sintetizada in vitro y muestra un elevado potencial osteogénico y condrogénico tanto in vivo como in vitro. Se presenta una revisión de los últimos avances en la aplicación experimental de las BMPs, y especialmente de la OP-1, en el área de la Cirugía Ortopédica y la TraumatologíaNowadays, molecular biology studies have promoted the bone morphogenetic proteins (BMPs) analysis. These multifunctional proteins are structurally related to transforming growth factor-6 (TGF-6). Genetic engineering techniques have allowed to sequence some of these BMPs. It has been characterized the expression and processing of osteogenic protein-1 (OP-1), a bone morphogenetic protein of the TGF-6 family. The OP-1 shows a high osteogenic and chondrogenic potential. The aim of this paper is to review some updated advances of the BMPs experimental applications, particularly OP-1, in relation to Orthopaedic Surgery and Traumatolog

    Cirugía mínimamente invasiva de la hernia inguinal

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    El abordaje mínimamente invasivo de la hernia inguinal presenta ventajas respecto a los abordajes convencionales anteriores en las hernias inguinales bilaterales y recurrentes, si bien los resultados iniciales fueron malos, se sumaron nuevos problemas derivados del abordaje laparoscópico. El objetivo de este artículo es describir la técnica quirúrgica y analizar los resultados preliminares de nuestra serie de 600 hernioplastias totalmente extraperitoneales realizadas en la Clínica Universitaria de Navarra. La complicación intraoperatoria más frecuente (25,7%) fue la apertura accidental del peritoneo. No hubo complicaciones intrabdominales asociadas. En el seguimiento hubo 9 (1,5%) recidivas y 13 reintervenciones. Once (1,8%) pacientes desarrollaron dolor neuropático transitorio en el territorio del fémoro-cutáneo. En nuestra experiencia el abordaje totalmente extraperitoneal es una técnica especialmente indicada en hernias recidivadas y bilaterales. Las ventajas presentes en cuanto a dolor y disconfort postoperatorio, recuperación de la actividad física y laboral, y los buenos resultados en cuanto a recidivas y dolor neuropático nos animan a indicarla no sólo en las hernias inguinales recidivadas o bilaterales sino en las primarias
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