The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

GeroScience - The rs1333049 (G/C) polymorphism located on chromosome 9p21.3 is a candidate to influence extreme longevity owing to its association with age-related diseases, notably coronary artery...     

Importancia de la carga vascular previa en la mortalidad intrahospitalaria y a largo plazo de pacientes con infarto de miocardio y segmento ST elevado

Introduction and objectives

Patients with a current acute coronary syndrome and previous ischemic heart disease, peripheral arterial disease, or cerebrovascular disease are reported to have a poorer outcome than those without these previous conditions. It is uncertain whether this association with outcome is observed at long-term follow-up.

Methods

Prospective observational study, including 4247 patients with ST-segment elevation myocardial infarction. Detailed clinical data and information on previous ischemic heart disease, peripheral arterial disease, and cerebrovascular disease («vascular burden») were recorded. Multivariate models were performed for in-hospital and long-term (median, 7.2 years) all-cause mortality.

Results

One vascular territory was affected in 1131 (26.6%) patients and ≥ 2 territories in 221 (5.2%). The total in-hospital mortality rate was 12.3% and the long-term incidence density was 3.5 deaths per 100 patient-years. A background of previous ischemic heart disease (odds ratio = 0.83; P = .35), peripheral arterial disease (odds ratio = 1.30; P=.34), or cerebrovascular disease (stroke) (odds ratio = 1.15; P = .59) was not independently predictive of in-hospital death. In an adjusted model, previous cerebrovascular disease and previous peripheral arterial disease were both predictors of mortality at long-term follow-up (hazard ratio = 1.57; P < .001; and hazard ratio = 1.34; P = .001; respectively). Patients with ≥ 2 diseased vascular territories showed higher long-term mortality (hazard ratio = 2.35; P < .001), but not higher in-hospital mortality (odds ratio = 1.07; P = .844).

Conclusions

In patients with a diagnosis of ST-segment elevation acute myocardial infarction, the previous vascular burden determines greater long-term mortality. Considered individually, previous cerebrovascular disease and peripheral arterial disease were predictors of mortality at long-term after hospital discharge.Full English text available from: www.revespcardiol.org/en     

Combined radical prostatectomy and abdominoperineal resection for locally invasive rectal cancer

INTRODUCTION

An infiltration of urological organs is found in 5–10% of patients with colorectal carcinoma. Total pelvic exenteration is the standard procedure for locally advanced rectal cancer. In selected patients with rectal cancer involving the prostate or seminal vesicles, the bladder can be preserved and en bloc radical prostatectomy with abdominoperineal rectal resection can be performed. We report two patients who treated with this combined approach.

PRESENTATION OF CASE

Two patients with symptoms of rectal bleeding and pelvic pain were investigated. Colonoscopy demonstrated a tumor in the lower rectum. Biopsies revealed adenocarcinoma. Both pelvic MRI and endorectal ultrasound showed tumors that invaded the prostate and the seminal vesicles directly but without invasion of the bladder. After neoadjuvant chemoradiation, combined radical prostatectomy and abdominoperineal amputation was performed. None has developed local recurrence, but one of them was operated on for a single lung metastasis. After a follow-up of 28 and 20 months, respectively, the patients are alive without evidence of local recurrence or distant disease.

DISCUSSION

This procedure obviates the need for urinary diversion without compromising the local tumor control. Intraoperative and postoperative diagnostic difficulties, and clinical aspects in relation to postoperative anastomotic leak and survival of patients are discussed.

CONCLUSION

En bloc radical prostatectomy and proctosigmoidectomy is feasible in selected patients with rectal cancer and invasion limited to the prostate or seminal vesicles because it provides good local tumor control and significantly improves the patient''s quality of life in comparison to total pelvic exenteration.     

Regional vulnerability of hippocampal subfields to aging measured by structural and diffusion MRI

In the past few years, there has been an increasing awareness of the regional vulnerability of the hippocampus to age‐related processes. However, to date, no studies have assessed the effects of age on different structural magnetic resonance parameters in the specific hippocampal subfields. In this study, we measured volume, mean diffusivity (MD) and fractional anisotropy (FA) in the presubiculum, subiculum, fimbria, cornu ammonis (CA) 1,2‐3,4‐DG and the whole hippocampus in fifty cognitively intact elder adults between 50 and 75 years of age (20 men, 30 women). Segmentation of hippocampal subfields was performed using FreeSurfer. Individual MD and FA images were coregistered to T1‐weighted volumes using FLIRT of FSL. Linear regression analyses were performed to assess the effects of age on the anatomical measures of each subfield. In addition, multiple regression analyses were also carried out to assess which of the anatomical measures that showed a correlation with age in the previous analyses, were the best age predictors in the hippocampus. In agreement with previous studies, our results showed a significant association between age and volume (P < 0.001) as well as MD (P < 0.001) in the whole hippocampus. Regarding the specific hippocampal subfields, we found that age had a significant negative effect on volume in CA2‐3 (P < 0.001) and CA4‐DG (P < 0.001). Importantly, we found a positive effect of age on MD in CA2‐3 (P < 0.001) and fimbria (P < 0.001) as well as a negative age effect on FA in the subiculum (P < 0.001). Multiple regression analyses revealed that the best overall predictors of age in the hippocampus were MD in the fimbria and volume of CA2‐3, which explained 73.8% of the age variance. These results indicate that age has an effect both on volume and diffusion tensor imaging measures in different subfields, suggesting they provide complementary information on age‐related processes in the hippocampus. © 2013 Wiley Periodicals, Inc.     

Prognostic relevance of early AKI according to pRIFLE criteria in children undergoing cardiac surgery

Background

Acute renal injury increases risk of death after cardiac surgery. The objective of the study was to evaluate the ability of the pediatric Risk, Injury, Failure, Loss, End-Stage Renal Disease (pRIFLE) criteria to characterize the development of postoperative renal damage in children after cardiopulmonary bypass (CPB) and to evaluate the relationship between the severity of kidney injury and mortality, pediatric intensive care unit (PICU) length of stay, and the duration of mechanical ventilation (MV).

Methods

In this retrospective study including children undergoing CPB surgery during a 3-year period in the PICU of a tertiary hospital, demographic, clinical, surgery-related, and postoperative clinical data were collected. Kidney damage was assessed with pRIFLE criteria.

Results

Four hundred and nine patients were included. Early acute kidney injury (AKI) was found in 82 patients (achieving categories Risk 44; Injury 16; Failure 22). Early AKI was associated with younger age (P?=?0.010), longer CPB, deep hypothermic circulatory arrest (DHCA) use, ICU stay >12 days, MV >4 days, and death (P?<?0.001). Controlling the effect of age, CPB, DHCA use, previous cardiac surgeries, and Risk Adjustment in Congenital Heart Surgery Surgical Severity Score (RACHS-1), early AKI development proved to predict ICU stay >12 days [odds ratio (OR) 3.5; 95 % confidence interval (CI) 1.9–6.5, P?<?0.001)] and need of MV >4 days (OR 5.1; 95 % CI 2.6–10.2, P?<?0.001).

Conclusions

Early AKI when evaluated with the pRIFLE criteria can predict prolonged ICU stay, need of prolonged MV, and mortality.     

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications,prenatal diagnoses,and additional phenotypic features

Int22h1/Int22h2‐mediated Xq28 duplication syndrome is a relatively new X‐linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysmorphia, and neurobehavioral abnormalities that mainly include hyperactivity, irritability, and autistic behavior. Affected males are hemizygous for the duplication, which explains their often more severe manifestations compared with heterozygous females. In this report, we describe the cases of nine individuals recently identified having the syndrome, highlighting unique and previously unreported findings of this syndrome. Specifically, we report for the first time in this syndrome, two cases with de novo duplications, three receiving prenatal diagnosis with the syndrome, and three others having atypical versions of the duplication. Among the latter, one proband has a shortened version spanning only the centromeric half of the typical duplication, while the other two cases have a nearly identical length duplication as the classical duplication, with the exception that their duplication's breakpoints are telomerically shifted by about 0.2 Mb. Finally, we shed light on two new manifestations in this syndrome, vertebral anomalies and multiple malignancies, which possibly expand the phenotypic spectrum of the syndrome.     

Changes in whole-brain functional networks and memory performance in aging

We used resting-functional magnetic resonance imaging data from 98 healthy older adults to analyze how local and global measures of functional brain connectivity are affected by age, and whether they are related to differences in memory performance. Whole-brain networks were created individually by parcellating the brain into 90 cerebral regions and obtaining pairwise connectivity. First, we studied age-associations in interregional connectivity and their relationship with the length of the connections. Aging was associated with less connectivity in the long-range connections of fronto-parietal and fronto-occipital systems and with higher connectivity of the short-range connections within frontal, parietal, and occipital lobes. We also used the graph theory to measure functional integration and segregation. The pattern of the overall age-related correlations presented positive correlations of average minimum path length (r = 0.380, p = 0.008) and of global clustering coefficients (r = 0.454, p < 0.001), leading to less integrated and more segregated global networks. Main correlations in clustering coefficients were located in the frontal and parietal lobes. Higher clustering coefficients of some areas were related to lower performance in verbal and visual memory functions. In conclusion, we found that older participants showed lower connectivity of long-range connections together with higher functional segregation of these same connections, which appeared to indicate a more local clustering of information processing. Higher local clustering in older participants was negatively related to memory performance.