Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
In most parts of the world, curatively intended treatment for esophageal cancer includes neoadjuvant therapy, either with chemoradiotherapy or chemotherapy alone, followed by esophagectomy. Currently 18F-FDG positron emission tomography/computed tomography (PET/CT) is used for preoperative disease staging, but is not well established in the evaluation of neoadjuvant treatment.
To evaluate changes in PET parameters in relation to the histological primary tumor response in the surgical specimen in patients randomized to neoadjuvant chemoradiotherapy or chemotherapy.
Patients were randomized between either neoadjuvant chemotherapy or chemoradiotherapy followed by esophagectomy.18F-FDG PET/CT exams were conducted at baseline and following neoadjuvant treatment. Standardized uptake ratio (SUR) values were measured in the primary tumor and compared as regards histological responders and non-responders as well as different treatment arms.
Seventy-nine patients were enrolled and 51 were available for analysis. A significant rate of SUR reduction was observed ( P?=?0.02) in the primary tumor in histological responders compared to non-responders. Changes in SUR were significantly greater in responders following chemoradiotherapy ( P?=?0.02), but not following chemotherapy alone ( P?=?0.49). There was no statistically significant difference in SUR in patients with a complete histological response compared to those with a subtotal response.
Our results are similar to those of previous studies and show that changes in the rate of SUR can be used reliably to differentiate histological responders from non-responders after neoadjuvant treatment with either chemoradiotherapy or chemotherapy. Limitations of current PET technology are likely to restrict the possibility of accurately ruling out limited residual disease.
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
Abdominal obesity is a major risk factor for hypertension. However, different distributions of abdominal adipose tissue may affect hypertension risk differently. The main purpose of this study was to explore the association of subcutaneous abdominal adipose tissue (SAT) and visceral adipose tissue (VAT) with incident hypertension in a population-based setting. We hypothesized that VAT, rather than SAT, would be associated with incident hypertension. VAT and SAT were determined by ultrasound imagining in 3363 randomly selected Danes (mean age 49 years, 56% women, mean body mass index 25.8 kg/m(2)). We constructed multiple logistic regression models to compute standardized odds ratios with 95% confidence intervals per SD increase in SAT and VAT. Of the 2119 normotensive participants at baseline, 1432, with mean SAT of 2.8 cm and mean VAT of 5.7 cm, returned 5 years later for a follow-up examination and among them 203 had developed hypertension. In models including both VAT and SAT, the Framingham Hypertension Risk Score variables (age, sex, smoking status, family history of hypertension, and baseline blood pressure) and glycated hemoglobin, odds ratio (95% confidence interval) for incident hypertension for 1 SD increase in VAT and SAT was 1.27 (1.08-1.50, P=0.004) and 0.97 (0.81-1.15, P=0.70), respectively. Adjusting for body mass index instead of SAT attenuated the association between VAT and incident hypertension, but it was still significant (odds ratio, 1.22 [1.01-1.48, P=0.041] for each SD increase in VAT). In conclusion, ultrasound-determined VAT, but not SAT, was associated with incident hypertension in a random sample of Danish adults.
Peripheral arterial disease and vascular calcifications contribute significantly to the outcome of dialysis patients. The aim of this study was to evaluate the prognostic role of severity of abdominal aortic calcifications and peripheral arterial disease on outcome of peritoneal dialysis (PD) patients using methods easily available in everyday clinical practice.
We enrolled 249 PD patients (mean age 61 years, 67% male) in this prospective, observational, multicenter study from 2009 to 2013. The abdominal aortic calcification score (AACS) was assessed using lateral lumbar X ray, and the ankle-brachial index (ABI) using a Doppler device.
The median AACS was 11 (range 0 - 24). In 58% of the patients, all 4 segments of the abdominal aorta showed deposits, while 19% of patients had no visible deposits (AACS 0). Ankle-brachial index was normal in 49%, low ( 1.3) in 34% of patients. Altogether 91 patients (37%) died during the median follow-up of 46 months. Only 2 patients (5%) with AACS 0 died compared with 50% of the patients with AACS = 7 (p
We aimed to determine the prevalence of echocardiographic abnormalities and their relation to clinical characteristics and cardiac symptoms in a large, contemporary cohort of patients with type 2 diabetes.
A total of 1030 patients with type 2 diabetes participated. Echocardiographic abnormalities were present in 513 (49.8%) patients, mainly driven by a high prevalence of diastolic dysfunction 178 (19.4%), left ventricular hypertrophy 213 (21.0%) and left atrial enlargement, 200 (19.6%). The prevalence increased markedly with age from 31.1% in the youngest group (75?years) (p?
The objective was to investigate prevalence, estimate risk factors, and antenatal suspicion of abnormally invasive placenta (AIP) associated with laparotomy in women in the Nordic countries.
Population-based cohort study.
A 3-year Nordic collaboration among obstetricians to identify and report on uterine rupture, peripartum hysterectomy, excessive blood loss, and AIP from 2009 to 2012 The Nordic Obstetric Surveillance Study (NOSS).
In the NOSS study, clinicians reported AIP cases from maternity wards and the data were validated against National health registries.
Prevalence, risk factors, antenatal suspicion, birth complications, and risk estimations using aggregated national data.
A total of 205 cases of AIP in association with laparotomy were identified, representing 3.4 per 10 000 deliveries. The single most important risk factor, which was reported in 49% of all cases of AIP, was placenta praevia. The risk of AIP increased seven-fold after one prior caesarean section (CS) to 56-fold after three or more CS. Prior postpartum haemorrhage was associated with six-fold increased risk of AIP (95% confidence interval 3.7-10.9). Approximately 70% of all cases were not diagnosed antepartum. Of these, 39% had prior CS and 33% had placenta praevia.
Our findings indicate that a lower CS rate in the population may be the most effective way to lower the incidence of AIP. Focused ultrasound assessment of women at high risk will likely strengthen antenatal suspicion. Prior PPH is a novel risk factor associated with an increased prevalence of AIP.
An ultrasound assessment in women with placenta praevia or prior CS may double the awareness for AIP.
Department of Clinical Neurosciences, University of Calgary, 1403 29 Street NW, Calgary, Alberta, T2N2T9, Canada; Hotchkiss Brain Institute, University of Calgary, 1403 29 Street NW, Calgary, Alberta, T2N2T9, Canada.
The Canadian Appropriateness of Epilepsy Surgery (CASES) tool was developed to help physicians identify patients who should be referred for an epilepsy surgery evaluation. The aim of this study was to determine the accuracy of this tool using a population-based cohort registry (the Swedish National Epilepsy Surgery Register) of patients who underwent epilepsy surgery between 1990 and 2012.
Overall, 1044 patients met eligibility criteria for the study and were deemed to be surgical candidates by epilepsy experts. Demographic and epilepsy related characteristics were examined and summarized using descriptive statistics. A CASES appropriateness score was calculated for each of these patients. Chi squared analyses or fisher's exact tests were used to determine if there were any relationships between demographic and epilepsy related characteristics not captured in the tool and appropriateness scores.
The mean appropriateness score was 8.6 and 985 (Sensitivity: 94.35%; 95% CI, 92.77%-95.60%) patients were appropriate, 46 (4.41%; 95% CI, 3.31%-5.84%) were uncertain, and 13 (1.25%; 95% CI, 0.72%-2.13%) were inappropriate for an epilepsy surgery evaluation. The mean necessity score, which was only calculated for the 985 appropriate patients, was 8.7. All 13 inappropriate patients had tried less than two anti-epileptic drugs (AEDs). In addition, age at onset of epilepsy and age at epilepsy surgery were both significantly associated with appropriateness score.
These results demonstrate that the CASES tool is highly sensitive as it designated 94.3% of epilepsy surgery patients as appropriate for an epilepsy surgery evaluation. All of those classified as inappropriate were not drug resistant, as they had not yet tried two AEDs.
To assess the accuracy of computed tomography in diagnosing acute appendicitis with a special reference to radiologist experience.
Data were collected prospectively in our randomized controlled trial comparing surgery and antibiotic treatment for uncomplicated acute appendicitis (APPAC trial, NCT01022567). We evaluated 1065 patients who underwent computed tomography for suspected appendicitis. The on-call radiologist preoperatively analyzed these computed tomography images. In this study, the radiologists were divided into experienced (consultants) and inexperienced (residents) ones, and the comparison of interpretations was made between these two radiologist groups.
Out of the 1065 patients, 714 had acute appendicitis and 351 had other or no diagnosis on computed tomography. There were 700 true-positive, 327 true-negative, 14 false-positive, and 24 false-negative cases. The sensitivity and the specificity of computed tomography were 96.7% (95% confidence interval, 95.1-97.8) and 95.9% (95% confidence interval, 93.2-97.5), respectively. The rate of false computed tomography diagnosis was 4.2% for experienced consultant radiologists and 2.2% for inexperienced resident radiologists (p?=?0.071). Thus, the experience of the radiologist had no effect on the accuracy of computed tomography diagnosis.
The accuracy of computed tomography in diagnosing acute appendicitis was high. The experience of the radiologist did not improve the diagnostic accuracy. The results emphasize the role of computed tomography as an accurate modality in daily routine diagnostics for acute appendicitis in all clinical emergency settings.