568 research outputs found

    Multicentre prospective observational study of feeding practices in 30–33 weeks preterm infants

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    Background: Current evidence supports progressive feeding in preterm infants. Due to lower necrotising enterocolitis risk, recent studies suggest starting total enteral feeding from birth in 30–33 weeks preterm infants. The feasibility of this practice is unclear.Aim: Explore feeding practices in 30–33 weeks preterm infants.Design: Prospective, multicentre, observational study recruiting 10 consecutive 30–33 weeks preterm infants from each of the eight UK hospitals.Results: Eighty infants received their first feed at median of 24 hours, achieving total enteral (without intravenous nutrition) and full feeds (≄150 ml/kg/day) at median of 5 and 8 days, respectively. Eleven infants who achieved total enteral feeding within 24 hours after birth achieved full feeds earlier (p=0.02) with shorter hospital stay (p=0.009) but were also of older gestation (p=0.004).Conclusion: Current early feeding approaches in 30–33 weeks preterm infants were found to be conservative. Total enteral feeding from birth is possible in these infants but further studies are needed

    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

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    Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. These findings expand the genetic pathway underpinning neurologic disease that classically includes FLNA. ARF1 along with ARFGEF2 add further evidence implicating ARF/GEFs in the brain. Using functional ontology, top MDR-containing genes were highly enriched for nucleotide-binding function, suggesting these may be candidates for human disease. Routine consideration of MDR in the interpretation of exome data for rare diseases may help identify strong genetic factors for many severe conditions, infertility/reduction in reproductive capability, and embryonic conditions contributing to preterm loss

    Dementia and risk of visual impairment in Chinese older adults

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    We had previously identified visual impairment increasing risk of incident dementia. While a bi-directional vision-cognition association has subsequently been proposed, no study has specifically examined the longitudinal association between dementia and incidence of clinically defined visual impairment. In this territory-wide community cohort study of 10,806 visually unimpaired older adults, we examined their visual acuity annually for 6 years and tested if dementia at baseline was independently associated with higher risk of incident visual impairment (LogMAR ≄ 0.50 in the better eye despite best correction, which is equivalent to moderate visual impairment according to the World Health Organization definition). By the end of Year 6, a total of 3151 (29.2%) participants developed visual impairment. However, we did not find baseline dementia associating with higher risk of incident visual impairment, after controlling for baseline visual acuity, cataract, glaucoma, diabetes, hypertension, hypercholesterolemia, heart diseases, stroke, Parkinson's disease, depression, hearing and physical impairments, physical, intellectual and social activities, diet, smoking, age, sex, educational level, and socioeconomic status. Among different covariables, baseline visual acuity appears to be more important than dementia in contributing to the development of visual impairment. Our present findings highlight the need for re-evaluating whether dementia is indeed a risk factor for visual impairment

    Does shear wave ultrasound independently predict axillary lymph node metastasis in women with invasive breast cancer?

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    Shear wave elastography (SWE) shows promise as an adjunct to greyscale ultrasound examination in assessing breast masses. In breast cancer, higher lesion stiffness on SWE has been shown to be associated with features of poor prognosis. The purpose of this study was to assess whether lesion stiffness at SWE is an independent predictor of lymph node involvement. Patients with invasive breast cancer treated by primary surgery, who had undergone SWE examination were eligible. Data were retrospectively analysed from 396 consecutive patients. The mean stiffness values were obtained using the Aixplorer(Ÿ) ultrasound machine from SuperSonic Imagine Ltd. Measurements were taken from a region of interest positioned over the stiffest part of the abnormality. The average of the mean stiffness value obtained from each of two orthogonal image planes was used for analysis. Associations between lymph node involvement and mean lesion stiffness, invasive cancer size, histologic grade, tumour type, ER expression, HER-2 status and vascular invasion were assessed using univariate and multivariate logistic regression. At univariate analysis, invasive size, histologic grade, HER-2 status, vascular invasion, tumour type and mean stiffness were significantly associated with nodal involvement. Nodal involvement rates ranged from 7 % for tumours with mean stiffness <50 kPa to 41 % for tumours with a mean stiffness of >150 kPa. At multivariate analysis, invasive size, tumour type, vascular invasion, and mean stiffness maintained independent significance. Mean stiffness at SWE is an independent predictor of lymph node metastasis and thus can confer prognostic information additional to that provided by conventional preoperative tumour assessment and staging

    The optimal number of lymph nodes examined in stage II colorectal cancer and its impact of on outcomes

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    Background: Lymph node status is the most important prognostic factor for colorectal cancer. The number of lymph nodes that should be histologically examined has been controversial. The aims of this study were to assess the impact of the number of lymph nodes examined on survival of patients with stage II colorectal cancer and to determine the optimal number of lymph nodes that should be examined.Methods: The study included 664 patients who underwent resection for stage II colorectal cancer. The clinical and histopathologic data of the patients were prospectively collected and analyzed.Results: The median number of lymph nodes examined was 12 (range: 1 to 58). The 5-year disease free survival rate was significantly higher for patients with 12 or more lymph nodes examined compared to those with less than 12 lymph nodes examined. The significant difference in 5-year disease free survival persisted if the dividing number increased progressively from 12 to 23. However, the difference in survival was most significant (lowest p value and highest hazard ratio) for the number 21. The 5-year disease free survival of patients with 21 or more lymph nodes examined was 80% whereas that of patients with less than 21 lymph nodes examined was 60% (p = 0.001, hazard ratio 2.08). Multivariate analysis showed that 21 or more lymph nodes examined was a factor that independently influenced survival. The 5-year disease free survival also increased progressively with the number of lymph node examined up to the number 21. After the number 21, the survival rate did not increase further. It was likely that 21 was the optimal number, at and above which the chance of lymph node metastasis was minimal.Conclusions: The number of lymph nodes examined in colorectal cancer specimen significantly influences survival. It is recommended that at least 21 lymph nodes should be examined for accurate diagnosis of stage II colorectal cancer. © 2010 Choi et al; licensee BioMed Central Ltd.published_or_final_versio
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