430 research outputs found
Inicio de una investigación de diseño sobre el desarrollo de competencias numéricas con niños de 4 años
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
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
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
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
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
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
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
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
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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