Background Mutations in the gene encoding thyroid transcription factor, NKX2-1 , result in neurologic abnormalities, hypothyroidism, and neonatal respiratory distress syndrome (RDS) that together are ...known as the brain-thyroid-lung syndrome. To characterize the spectrum of associated pulmonary phenotypes, we identified individuals with mutations in NKX2-1 whose primary manifestation was respiratory disease. Methods Retrospective and prospective approaches identified infants and children with unexplained diffuse lung disease for NKX2-1 sequencing. Histopathologic results and electron micrographs were assessed, and immunohistochemical analysis for surfactant-associated proteins was performed in a subset of 10 children for whom lung tissue was available. Results We identified 16 individuals with heterozygous missense, nonsense, and frameshift mutations and five individuals with heterozygous, whole-gene deletions of NKX2-1 . Neonatal RDS was the presenting pulmonary phenotype in 16 individuals (76%), interstitial lung disease in four (19%), and pulmonary fibrosis in one adult family member. Altogether, 12 individuals (57%) had the full triad of neurologic, thyroid, and respiratory manifestations, but five (24%) had only pulmonary symptoms at the time of presentation. Recurrent respiratory infections were a prominent feature in nine subjects. Lung histopathology demonstrated evidence of disrupted surfactant homeostasis in the majority of cases, and at least five cases had evidence of disrupted lung growth. Conclusions Patients with mutations in NKX2-1 may present with pulmonary manifestations in the newborn period or during childhood when thyroid or neurologic abnormalities are not apparent. Surfactant dysfunction and, in more severe cases, disrupted lung development are likely mechanisms for the respiratory disease.
A 31-year-old woman with end-stage kidney disease and with a bicuspid aortic valve presented with acute heart failure in the second trimester of pregnancy. The patient received a diagnosis of severe ...aortic stenosis and chose to continue the pregnancy against medical advice. Following a multidisciplinary team consultation, she underwent urgent transcatheter aortic valve replacement.
We explore the impact of environmental conditions on the competency of machine learning agents and how real-time competency assessments improve the reliability of ML agents. We learn a representation ...of conditions which impact the strategies and performance of the ML agent enabling determination of actions the agent can make to maintain operator expectations in the case of a convolutional neural network that leverages visual imagery to aid in the obstacle avoidance task of a simulated self-driving vehicle.
Measurement of left ventricular end-diastolic pressure (LVEDP) is readily obtainable in patients with ST-segment elevation myocardial infarction (STEMI) undergoing primary percutaneous coronary ...intervention (PCI). However, the prognostic utility of LVEDP during primary PCI has never been studied. LVEDP was measured in 2,797 patients during primary PCI in the Harmonizing Outcomes with RevascularIZatiON and Stents in Acute Myocardial Infarction (HORIZONS-AMI) trial. Outcomes were assessed at 30 days and 2 years stratified by medians of LVEDP. Multivariable analysis was performed to determine whether LVEDP was an independent determinate of adverse outcomes. The median (interquartile range) for LVEDP was 18 mm Hg (12 to 24). For patients with LVEDP >18 mm Hg versus those with ≤18 mm Hg, hazard ratios (95% confidence intervals) for death and death or reinfarction at 30 days were 2.00 (1.20 to 3.33, p = 0.007) and 1.84 (1.24 to 2.73, p = 0.002), respectively, and at 2 years were 1.57 (1.12 to 2.21, p = 0.009) and 1.45 (1.14 to 1.85, p = 0.002), respectively. Patients in the highest quartile of LVEDP (≥24 mm Hg) were at the greatest risk of mortality. Only a weak correlation was present between LVEDP and left ventricular ejection fraction (LVEF; R2 = 0.03, p <0.01). By multivariable analysis increased LVEDP was an independent predictor of death or reinfarction at 2 years (hazard ratio 1.20, 95% confidence interval 1.02 to 1.42, p = 0.03) even after adjustment for baseline LVEF. In conclusion, baseline increased LVEDP is an independent predictor of adverse outcomes in patients with STEMI undergoing primary PCI even after adjustment for baseline LVEF. Patients with LVEDP ≥24 mm Hg are at the greatest risk for early and late mortality.
Psychopathology in Adolescents with TLE and FLE Huemer, Julia, MD; Plattner, Belinda, MD; Planer, Nadja, MD ...
European journal of paediatric neurology,
11/2016, Letnik:
20, Številka:
6
Journal Article
Recenzirano
Abstract To describe the rates and types of psychiatric disorders among adolescents with chronic symptomatic epilepsies and to evaluate syndrome-specific differences between temporal lobe (TLE) and ...frontal lobe (FLE) epilepsies. A cross-sectional single-center study design applying the Youth Self Report (YSR) to investigate psychopathological symptoms and the Weinberger Adjustment Inventory (WAI) to investigate personality dimensions was used. Consecutive adolescents between 14 and 18 years of age with drug-resistant symptomatic TLE and FLE were investigated during pre-surgical evaluation prior to epilepsy surgery. Data from twenty-eight patients (19 with TLE and 9 with FLE) were analyzed for this report. Compared with the test norm, higher prevalence rates and a wider range of psychopathological symptoms were seen in patients with TLE. This result was not seen in patients with FLE. Concerning personality dimensions, significantly higher values of repressive defensiveness and significantly lower values of positive emotion and confidence were found in patients with TLE. In contrast, significantly lower levels of distress and significantly higher levels of repressive defensiveness and denial of distress were seen in patients with FLE. Comparing TLE with FLE, a significantly higher mean score for distress, and a significantly lower mean score for positive emotion and denial of distress were found in patients with TLE. In summary, psychiatric comorbidity was frequently found in this sample of youths with chronic drug-resistant localization-related epilepsies. Although results have to be interpreted with caution because of the small sample size, psychiatric symptomatology was significantly different between TLE and FLE. Our results show that continuous and syndrome-specific psychiatric monitoring is essential in young patients with epilepsy.
Echocardiography is a well-accepted tool for the diagnosis and quantification of pericardial effusion (PEff). Given the increasing use of computed tomographic (CT) scanning, more PEffs are being ...initially diagnosed by computed tomography. No study has compared quantification of PEff by computed tomography and echocardiography. The objective of this study was to assess the accuracy of quantification of PEff by 2-dimensional echocardiography and computed tomography compared to the amount of pericardial fluid drained at pericardiocentesis. We retrospectively reviewed an institutional database to identify patients who underwent chest computed tomography and echocardiography before percutaneous pericardiocentesis with documentation of the amount of fluid withdrawn. Digital 2-dimensional echocardiographic and CT images were retrieved and quantification of PEff volume was performed by applying the formula for the volume of a prolate ellipse, π × 4/3 × maximal long-axis dimension/2 × maximal transverse dimension/2 × maximal anteroposterior dimension/2, to the pericardial sac and to the heart. Nineteen patients meeting study qualifications were entered into the study. The amount of PEff drained was 200 to 1,700 ml (mean 674 ± 340). Echocardiographically calculated pericardial effusion volume correlated relatively well with PEff volume (r = 0.73, p <0.001, mean difference −41 ± 225 ml). There was only moderate correlation between CT volume quantification and actual volume drained (r = 0.4, p = 0.004, mean difference 158 ± 379 ml). In conclusion, echocardiography appears a more accurate imaging technique than computed tomography in quantitative assessment of nonloculated PEffs and should continue to be the primary imaging in these patients.
Abstract Background Patients with heart failure have a poor prognosis. However, it has been presumed that patients with heart failure and preserved left ventricular function (LVF) may have a more ...benign prognosis. Objectives We evaluated the clinical outcome of patients with heart failure and preserved LVF compared with patients with reduced function and the factors affecting prognosis. Methods We prospectively evaluated 289 consecutive patients hospitalized with a definite clinical diagnosis of heart failure based on typical symptoms and signs. They were divided into 2 subsets based on echocardiographic LVF. Patients were followed clinically for a period of 1 year. Results Echocardiography showed that more than one third (36%) of the patients had preserved systolic LVF. These patients were more likely to be older and female and have less ischemic heart disease. The survival at 1 year in this group was poor and not significantly different from patients with reduced LVF (75% vs 71%, respectively). The adjusted survival by Cox regression analysis was not significantly different ( P = .25). However, patients with preserved LVF had fewer rehospitalizations for heart failure (25% vs 35%, P < .05). Predictors of mortality in the whole group by multivariate analysis were age, diabetes, chronic renal failure, atrial fibrillation, residence in a nursing home, and serum sodium ≤ 135 mEq/L. Conclusion The prognosis of patients with clinical heart failure with or without preserved LVF is poor. Better treatment modalities are needed in both subsets.
High-speed multiplexers, demultiplexers, frequency dividers, mixers, and amplifiers are key electronic components in high-speed fiber-optic communications systems such as SONET/SDH. In this paper, we ...present several important digital and analog integrated circuits (IC) which have been developed for use in SONET/SDH 10 Gb/s optical communication links. The circuits have been fabricated in MOSAIC 5E, an advanced silicon bipolar technology (f/sub T/=26 GHz). The resulting chipset which amounts to a total of 10 IC's consists of multiplexers, demultiplexers, a regenerative frequency divider (2:1), a dual output limiting amplifier, and two different types of mixers for clock extraction. Specifically, the design and performance of these IC's and a hybrid clock recovery module are discussed. The high performance and potential low cost of this research chipset show that advanced silicon bipolar circuit technology can play an important role in future multigigabit fiber-optic communication systems.< >
Objectives This study sought to investigate the blood pressure (BP) response after transcatheter aortic valve implantation (TAVI) and its correlation with short- and mid-term clinical outcomes. ...Background TAVI is an emerging therapy for aortic stenosis patients at high surgical risk. The acute hemodynamic sequelae of this procedure and their clinical relevance are yet unclear. Methods Consecutive patients who underwent TAVI in a single center were prospectively monitored for BP response during 5 post-procedural days. Clinical parameters, adverse events, and medical treatment were recorded during hospitalization, at 30 days, and at 12 months after the procedure. Patients were divided according to their post-procedural BP response into 2 groups: increased BP and stable BP. Results One hundred and five patients were analyzed. Overall, systolic BP increased immediately after TAVI in the entire cohort by an average of 15 ± 31 mm Hg. This rise was sustained and led to intensification of antihypertensive treatment in 53 patients (51%); these patients were designated as the increased BP group. The increase in systolic BP after TAVI was associated with an increase in stroke volume and cardiac output and was not related to age, baseline cardiac function, or procedural outcomes. Patients with increased BP after TAVI had a significantly better prognosis with fewer adverse events in the hospital (21% vs. 62%, p < 0.01), after 30 days (30% vs. 71%, p < 0.01), and after 12 months (53% vs. 83%, p < 0.01) as compared with patients with stable BP. Conclusions After TAVI, a substantial number of patients have a significant rise in systolic BP necessitating long-term treatment. This increase in BP is associated with an increase in cardiac output and predicts a better clinical outcome.
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