Does Liver Transplantation Affect Growth Pattern in Alagille Syndrome?

Alagille syndrome (AGS) is frequently associated with growth failure, which has been attributed to concurrent congenital anomalies, cholestasis, and malabsorption and/or malnutrition. However, the underlying cause of the growth failure is not well understood. Our objective is to analyze the growth pattern in 26 patients with AGS and the possible effect that orthotopic liver transplantation (OLT) may have on this pattern. The standardized height, weight, and growth velocity of 26 pair-matched patients with AGS were compared. Thirteen patients underwent OLT. Repeated-measure ANOVA methods were used for the statistical analysis. The overall mean standardized height (z score) was –2.92 in the OLT group versus –1.88 in the non-OLT group (P = .03). The overall mean standardized weight was –1.21 in the non-OLT group and –1.67 in the OLT group (P = .23). In 15 patients, birth weight was 2.82 ± 0.4 kg, for a mean standardized weight of –0.95, and weight at diagnosis was 4.53 ± 2.12 kg, for a mean standardized weight of –1.56. Bone age was delayed in the 9 patients who underwent bone-age analysis. Growth hormone therapy administered to 2 patients did not improve growth. Patients with AGS had growth failure secondary to other factors in addition to liver disease. Growth failure beginning in the prenatal period supports a genetic basis for this feature. Growth improvement up to normal levels should not be expected as a benefit of OLT in these patients. Growth failure as a primary indication for OLT should be cautiously examined in patients with AGS.(Liver Transpl 2000;6:582-587.)     

Incidence of cancer of the respiratory and upper digestive tract in urban and rural Eastern Austria

The incidence of head and neck, oesophagus and lung cancer between 1981 and 1985 was studied in Eastern Austria for an urban-rural division. In males, rural rates of oral cavity, oropharynx and oesophagus tumours were higher than urban rates. For lung tumours, urban rates slightly exceeded rural rates. In females, the incidence of oral cavity, oropharynx, larynx, hypopharynx, oesophagus and lung cancer showed an urban predominance, steepest for head and neck and oesophagus cancers. Cancer of the oral cavity, pharynx, larynx, oesophagus and lung had a high male preponderance.     

Detecting natural selection in RNA virus populations using sequence summary statistics

At present, most analyses that aim to detect the action of natural selection upon viral gene sequences use phylogenetic estimates of the ratio of silent to replacement mutations. Such methods, however, are impractical to compute on large data sets comprising hundreds of complete viral genomes, which are becoming increasingly common due to advances in genome sequencing technology. Here we investigate the statistical performance of computationally efficient tests that are based on sequence summary statistics, and explore their applicability to RNA virus data sets in two ways. Firstly, we perform extensive simulations in order to measure the type I error of two well-known summary statistic methods – Tajima's D and the McDonald–Kreitman test – under a range of virus-like mutational and demographic scenarios. Secondly, we apply these methods to a compilation of ～100 RNA virus alignments that represent natural RNA virus populations. In addition, we develop and introduce a new implementation of the McDonald–Kreitman test and show that it greatly improves the test's statistical reliability on typical viral data sets. Our results suggest that variants of the McDonald–Kreitman test could prove useful in the analysis of very large sets of highly diverse viral genetic data.     

Second primary malignancies among women with uterine sarcoma

Objective

Uterine sarcomas (US) are rare malignancies with unclear aetiology. Studies on uterine sarcomas in the setting of second primary malignant tumours can provide clues to aetiology and identify side effects of different treatments.

Methods

A cohort of 8606 cases of US was extracted from the data from 13 cancer registries and followed for second primary cancers within the period 1943-2000. Standardized incidence ratios (SIRs) were calculated, and Poisson regression analyses were performed.

Results

There were 499 cancer cases observed after a first diagnosis of US (SIR 1.26, 95%CI 1.16-1.38). SIRs were elevated for cancers of the mouth and pharynx (2.16, 95%CI 1.15-3.69), colorectum (1.60, 95%CI 1.28-1.98), lung (1.73, 95%CI 1.27-2.29), breast (1.25, 95%CI 1.05-1.49), urinary bladder (1.74, 95%CI 1.02-2.79), kidney (2.00, 95%CI 1. 24-3.06), thyroid gland (2.74, 95%CI 1.42-4.79), and soft tissue sarcoma (5.23, 95%CI 2.51-9.62). The risk of breast cancer increased along with increasing age of US diagnosis (p trend 0.040). The risk of kidney cancer increased along with decreasing age of US diagnosis (p trend 0.004) and short time since the US diagnosis (p trend 0.018).

Conclusions

Our study demonstrated increased risk of certain cancers following a diagnosis of US. The elevated risk for breast cancer may indicate shared hormonal aetiology, while the increased risk of colorectal and bladder cancers after US may be caused by radiation therapy of US. The clustering of smoking-related cancers after US is worth exploring in the future.     

A Comparative Study of Drain in Oncoplastic Breast Conserving Surgery (Therapeutic Mammaplasty and Chest Wall Perforator Flap Partial Breast Reconstruction) vs. Mastectomy

BackgroundIncreasingly, breast surgery is same day or 23-hour day-case surgery. Discharge criteria need to ensure patient safety outside hospital. We explore some of the evolving day-case factors in oncoplastic breast surgery (OBS).Materials and MethodsAvailable data of BMI and drain usage of an OBS practice (Nov 2014-Oct 2019) were reviewed. These were correlated with length of stay (LoS) and complications. Statistical analysis was performed using R programming language; Pearson's correlation, χ² test, and Welch's 2 sample t test.ResultsOf 188 patients in the study, drain usage was highest following mastectomy (62%) followed by partial reconstruction and mammaplasty. Drain was associated with increased seroma rates in all three operations. Its use in the partial reconstruction group was associated with significantly longer mean LoS with drain vs. those without drain (0.93 vs. 0.45 day, P = .009). Drain was associated with nonsignificantly longer LoS in both mammaplasty (1.57 vs. 1.00 day, P = .0708) and mastectomy (1.08 vs. 0.927 day, P = .685) groups. The mean BMI across all patients was 27.5, lowest in partial reconstruction (25.31), highest in mammaplasty (31.79), and 27.1 in mastectomy.ConclusionDrain use did not correlate directly with occurrence of seroma. However, overall, it was associated increased LoS, being significant in the partial reconstruction group. The temporal trend over the dataset shows numerically less drain usage in the latter half of series across all procedures with decreasing LoS. Minimal drain use may allow more day-case OBS.     

我国人类基因数据库元数据规范的设计

以我国人类基因数据库建设需求为导向,参考国内外人类基因数据库的元数据,设计了我国人类基因数据库元数据规范,包括标识维度、关系维度、文献维度、内容维度和管理维度,旨在为我国人类基因数据的采集和储存提供技术规范的支撑。     

Measuring conduction velocity distributions in peripheral nerves using neurophysiological techniques

ObjectiveTo determine how long it takes for neural impulses to travel along peripheral nerve fibers in living humans.MethodsA collision test was performed to measure the conduction velocity distribution of the ulnar nerve. Two stimuli at the distal and proximal sites were used to produce the collision. Compound muscle or nerve action potentials were recorded to perform the measurements on the motor or mixed nerve, respectively. Interstimulus interval was set at 1–5 ms. A quadri-pulse technique was used to measure the refractory period and calibrate the conduction time.ResultsCompound muscle action potential produced by the proximal stimulation started to emerge at the interstimulus interval of about 1.5 ms and increased with the increment in interstimulus interval. Two groups of motor nerve fibers with different conduction velocities were identified. The mixed nerve showed a wider conduction velocity distribution with identification of more subgroups of nerve fibers than the motor nerve.ConclusionsThe conduction velocity distributions in high resolution on a peripheral motor and mixed nerve are different and this can be measured with the collision test.SignificanceWe provided ground truth data to verify the neuroimaging pipelines for the measurements of latency connectome in the peripheral nervous system.     

Prospective Analysis Using a Novel CNN Algorithm to Distinguish Atypical Ductal Hyperplasia From Ductal Carcinoma in Situ in Breast

IntroductionWe previously developed a convolutional neural networks (CNN)-based algorithm to distinguish atypical ductal hyperplasia (ADH) from ductal carcinoma in situ (DCIS) using a mammographic dataset. The purpose of this study is to further validate our CNN algorithm by prospectively analyzing an unseen new dataset to evaluate the diagnostic performance of our algorithm.Materials and MethodsIn this institutional review board-approved study, a new dataset composed of 280 unique mammographic images from 140 patients was used to test our CNN algorithm. All patients underwent stereotactic-guided biopsy of calcifications and underwent surgical excision with available final pathology. The ADH group consisted of 122 images from 61 patients with the highest pathology diagnosis of ADH. The DCIS group consisted of 158 images from 79 patients with the highest pathology diagnosis of DCIS. Two standard mammographic magnification views (craniocaudal and mediolateral/lateromedial) of the calcifications were used for analysis. Calcifications were segmented using an open source software platform 3D slicer and resized to fit a 128 × 128 pixel bounding box. Our previously developed CNN algorithm was used. Briefly, a 15 hidden layer topology was used. The network architecture contained 5 residual layers and dropout of 0.25 after each convolution. Diagnostic performance metrics were analyzed including sensitivity, specificity, accuracy, and area under the receiver operating characteristic curve. The “positive class” was defined as the pure ADH group in this study and thus specificity represents minimizing the amount of falsely labeled pure ADH cases.ResultsArea under the receiver operating characteristic curve was 0.90 (95% confidence interval, ± 0.04). Diagnostic accuracy, sensitivity, and specificity was 80.7%, 63.9%, and 93.7%, respectively.ConclusionProspectively tested on new unseen data, our CNN algorithm distinguished pure ADH from DCIS using mammographic images with high specificity.     

Electronic cigarettes and narghile users in Brazil: Do they differ from cigarettes smokers?

BackgroundCigarette smoking prevalence is declining, however, other tobacco products have emerged recently, such as electronic cigarettes (e-cigarettes) and narghile (hookah/shisha/waterpipe). Narghile sales are not prohibited in Brazil, but e-cigarettes are. Accurate estimates of such products are key for proper monitoring and control.ObjectiveTo describe the prevalence of e-cigarettes and narghile use and to investigate whether sociodemographic characteristics of individuals who are using these products differ from those who are using manufactured cigarettes.MethodsUsing a nationally representative sample survey of Brazilians aged 12–65 years in 2015, we estimated the prevalence rates of each tobacco products within the last 12-months, stratified by macro-region, municipality size, sex-at-birth, sexual orientation, color/race, age-group, and monthly income. Multivariable logistic models were fitted to understand determinants of each tobacco product use, considering the complex sample design.ResultsE-cigarette, narghile, and cigarette prevalence rates were estimated at 0.43%, 1.65% and 15.35%, respectively, corresponding to around 0.6million e-cigarette users, 2.5 million narghile users and 23.5 million cigarette users. Non-heterosexual individuals were a most-at-risk group for both e-cigarette/narghile and cigarette use. Despite similarities, e-cigarette/narghile users were younger and had higher socioeconomic status than cigarette users. Additional analyses showed that recent cigarette use seems to be more associated with e-cigarette/narghile use among youth than among adults.ConclusionsOur findings may provide valuable information about e-cigarette/narghile use in Brazil. Prevention strategies targeted to youth to both narghile and e-cigarettes use should be implemented together, which might be one strategy to prevent the emergency of a new generation of smokers in Brazil.