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Background
Broad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members of probands with ASD, the relationship between parental BAP traits and proband symptomatology remains poorly understood. This study utilizes the Broad Autism Phenotype Questionnaire (BAPQ) in parents and the Social Responsiveness Scale (SRS) in children to examine this connection. We hypothesized that in families affected by ASD, elevated maternal and paternal BAPQ scores would correlate with greater autism symptomatology in diagnosed children. In an extension of prior research, we also explored this relationship in families with typically developing children (TDC).Methods
Two hundred and forty-five children with ASD, 129 TDC and all parents were recruited as part of a larger study investigating relationships between genes, brain and behavior. The Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and expert clinical judgment confirmed ASD diagnoses in children. SRS was collected for all children. Parents completed a self-report BAPQ and an informant report BAPQ for their spouse; an average of self-report and informant report for each parent was used in all analyses.Results
Mothers and fathers of children with ASD had significantly higher rates of BAP traits as compared to parents of TDC. Maternal and paternal BAPQ total scores were not correlated with child IQ in either group. In the ASD group, 10% of mothers and 21% of fathers scored above the established BAP threshold compared to 4% of TDC parents. Crude regression analyses showed that maternal and paternal BAPQ total scores accounted for significant variance in child SRS scores in both ASD (17.1%) and TDC (19.8%) families.Conclusions
Our results suggest that broad autism symptomatology in parents is moderately associated with their child’s autism symptomatology. This result extended to TDC families, suggesting that the BAPQ and SRS capture subtle, subclinical social variation in both children and adults. These findings could help define multi-generational social impairments in future phenotypic and genetic studies. 相似文献Introduction
Single incision laparoscopic surgery (SILS) is established in many procedures but not in bariatric surgery. One explanation may be that SILS is technically demanding in morbidly obese patients. This report describes our technique and experience with single incision laparoscopic adjustable gastric banding (SILAGB).Methods
Prospective data collection was performed on consecutive obese patients who underwent SILAGB between November 2009 and February 2011. A single 3cm transverse incision in the right upper quadrant was used for a Covidien SILS™ multichannel access port. The technique is described with a standard pars flaccida approach and the ‘tips and tricks’ needed for a wide range of candidates using standard laparoscopic equipment.Results
A total of 29 patients (27 female) with a median body mass index of 41kg/m2 (range: 35–52kg/m2) and median age of 44 years (range: 22–57 years) underwent SILAGB. There were no ‘conversions’ to a standard laparoscopic technique. Two cases required the addition of one single 5mm port. The only complications were two postoperative wound infections (one with a port site infection requiring replacement of the port) and one faulty band requiring replacement. There were therefore two returns to theatre and no 30-day deaths. All patients were discharged on the first postoperative day. In this series, operative times reduced significantly to be comparable with the conventional laparoscopic approach.Conclusions
SILAGB is safe and feasible in the morbidly obese. Proficiency in this technique using conventional laparoscopic equipment can be achieved with a short learning curve. 相似文献Introduction
Distant metastases to liver and lung are not uncommon in colorectal cancer. Resection of metastases is accepted widely as the standard of care. However, there is no firm evidence base for this. This questionnaire survey was carried out to assess the current practice preferences of cardiothoracic surgeons in Great Britain and Ireland.Methods
An online questionnaire survey was emailed to cardiothoracic surgeons in Great Britain and Ireland. The survey was live for 12 weeks. Responses were collated with SurveyMonkey®.Results
Overall, there were 75 respondents. The majority (83%) indicated thoracic surgery as a specialist interest. Almost all (99%) used thoracic computed tomography (CT) for staging; 70% added liver CT and 51% added pelvic CT. Fluorodeoxyglucose positron emission tomography was used by 86%. The most frequent indication for pulmonary resection (97%) was solitary lung metastasis without extrathoracic disease. Video assisted thoracoscopic surgery (VATS) was used by 85%. In addition, thoracotomy was used by 96%. A third (33%) used radiofrequency ablation. Synchronous liver and lung resection was contraindicated for 83% of respondents. Over three-quarters (77%) thought that scientific equipoise exists presently for lung resection for colorectal lung metastases but only 21% supported a moratorium on this type of surgery until further evidence becomes available.Conclusions
The results confirm that the majority of respondents use conventional cross-sectional imaging and either VATS or formal thoracotomy for resection. The results emphasise the continuing need for formal randomised trials to provide evidence of any survival benefit from pulmonary metastasectomy for colorectal lung metastases. 相似文献Background
Recreational mountain biking continues to increase in popularity and is a significant source of traumatic injury, including injuries to the hand and wrist.Methods
A prospective survey of all hand and wrist injuries sustained while participating in recreational mountain biking presenting to the emergency department at the Municipality of Whistler and the District of Squamish was conducted over a 12-month consecutive period.Results
An analysis of 765 unique emergency department visits with 1,079 distinct injuries was performed. Of these injuries, 511 were sustained to the upper limb. Injury to the metacarpal and metacarpal phalangeal joints was the most common hand injury (52) followed by proximal phalanx and proximal interphalangeal joint (20).Conclusions
Mountain biking is a frequent source of a variety of upper limb trauma, and preventative efforts are necessary to minimize the burden of these injuries. 相似文献Purpose
Biometals such as zinc and copper have been shown to affect tight junction expression and subsequently blood-brain barrier (BBB) integrity. Whether these biometals also influence the expression and function of BBB transporters such as P-glycoprotein (P-gp) however is currently unknown.Methods
Using the immortalised human cerebral microvascular endothelial (hCMEC/D3) cell line, an in-cell western assay (alongside western blotting) assessed relative P-gp expression after treatment with the metal ionophore clioquinol and biometals zinc and copper. The fluorescent P-gp substrate rhodamine-123 was employed to observe functional modulation, and inductively coupled plasma mass spectrometry (ICP-MS) provided information on biometal trafficking.Results
A 24-h treatment with clioquinol, zinc and copper (0.5, 0.5 and 0.1 μM) induced a significant upregulation of P-gp (1.7-fold) assessed by in-cell western and this was confirmed with western blotting (1.8-fold increase). This same treatment resulted in a 23% decrease in rhodamine-123 accumulation over a 1 h incubation. ICP-MS demonstrated that while t8his combination treatment had no effect on intracellular zinc concentrations, the treatment significantly enhanced bioavailable copper (4.6-fold).Conclusions
Enhanced delivery of copper to human brain microvascular endothelial cells is associated with enhanced expression and function of the important efflux pump P-gp, which may provide therapeutic opportunities for P-gp modulation.The purpose was to determine whether Appalachian residence alone or in combination with violence was linked to poorer quality of life (QOL).
MethodsWomen recently diagnosed and included in either the Kentucky or North Carolina Cancer Registries were interviewed by phone between 2009 and 2015 (n?=?3320; mean age?=?56.74). Response rates were similar by state (40.1 in Kentucky and 40.9% in North Carolina). Appalachian (N?=?990) versus non-Appalachian residents (N?=?2330) were hypothesized to have poorer QOL defined as (a) lower Functional Assessment of Cancer Therapy—General (FACT-G) scores and (b) more symptoms of depression, stress, or comorbid physical conditions. Lifetime intimate partner or sexual violence was first investigated as a moderator then mediator of regional differences. Multiple analyses of covariance (MANCOVA) models were used.
ResultsViolence modified the effect of Appalachian residence on poorer QOL outcomes; FACT-G total scores (p?=?.02) were lowest for women living in Appalachia who had additionally experienced violence. Socioeconomic indicators appeared to mediate or explain differences in QOL outcomes by Appalachian residence such that when adjusting for income, education and insurance, Appalachian residence remained associated only with poorer physical QOL outcomes (p?<?.05).
ConclusionsWhile violence rates did not differ by residence, the combined effect of living in Appalachia and experiencing violence resulted in significantly greater impact on poorer QOL among women recently diagnosed with cancer. Clinical consideration of patients’ residence, socioeconomic status and violence experienced may help identify and mitigate the longer-term impact of these identifiable factors associated with poorer QOL.
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