Genetic studies in children with intellectual disability and autistic spectrum of disorders

Autism is one of the five disorders that falls under the umbrella of Pervasive Developmental Disorders (PDD) or Autism Spectrum Disorder (ASD), a category of neurological disorders characterized by "severe and pervasive impairment in several areas of development." ASD is characterized by varying degrees of impairment in communication skills, social interaction and restricted, repetitive stereotyped patterns of behavior. The five disorders under PDD are autistic disorder, Asperger\u2032s disorder, childhood disintegrative disorder, Rett\u2032s disorder and PDD-not otherwise specified. ASD can often be reliably detected by the age of 3 years and, in some cases, as early as 18 months. The appearance of any warning signs of ASD is reason to have the child evaluated by a professional specializing in these disorders

Increasing the versatility of the biphenyl-fused-dioxacyclodecyne class of strained alkynes

Biphenyl-fused-dioxacyclodecynes are a promising class of strained alkyne for use in Cu-free ‘click’ reactions. In this paper, a series of functionalised derivatives of this class of reagent, containing fluorescent groups, are described. Studies aimed at understanding and increasing the reactivity of the alkynes are also presented, together with an investigation of the bioconjugation of the reagents with an azide-labelled protein

Comparison of computed tomography hepatic steatosis criteria for identification of abnormal liver function and clinical risk factors, in incidentally noted fatty liver.

OBJECTIVES: Hounsfield Units (HU) to compare the various computed tomography (CT) criteria for diagnosing hepatic steatosis with laboratory liver function parameters, and clinical risk factors retrospectively, when hepatic steatosis was incidentally detected. METHODS: Institutional review board-approved, Health Insurance Portability and Accountability Act-compliant, retrospective study in 200 randomly selected patients who had either nonenhanced CT (NECT) or contrast-enhanced CT (CECT) studies with reported hepatic steatosis. The participants were matched to age, gender, and ethnicity with 200 patients without hepatic steatosis. For NECT, four different criteria have been proposed in the literature to diagnose fatty liver: (1) liver HU less than 48 HU; (2) ratio of liver to spleen HU less than 0.8; (3) HU difference between liver and spleen less than -10; and (4) hepatic vessel HU ≥ liver HU. For CECT, difference between liver and spleen HU, in portal venous phase, ≤ -20 to -25 HU. Serum glucose, aspartate aminotransferase (AST), amino alanine transferase (ALT), total bilirubin were documented. Clinical history and clinical risk factors were documented from the electronic health records. Matched analyses and Wilcoxon signed rank sum test analysis were performed for matched variables. RESULTS: Fatty liver by NECT criteria 1 and 3 has statistically significant correlation with elevated glucose levels (P = 0.02). Similarly, fatty liver by 1, 3, and 4 NECT criteria showed statistically significant associations with higher levels of ALT and AST. There were statistically significant higher prevalence of diabetes mellitus (P = 0.003) and alcohol consumption (P ≤ 0.0001) in cases when compared with the controls. There was marginal significance in CT Dose Index between cases and controls (95% confidence interval: 0.98, 1.00; odds ratio 0.99), reflecting that cases had slightly higher BMI compared to their matched controls, thereby requiring slightly higher mA/mAs for imaging. CONCLUSION: Particular NECT criteria for fatty liver are best at identification of abnormal liver function and certain comorbidities, in the setting of incidental fatty liver detection, This creates the potential for benefits of early detection in clinical management

Comparison of correlations between lipid profile and different computed tomography fatty liver criteria in the setting of incidentally noted fatty liver on computed tomography examinations.

PURPOSE: The aim of this study was to compare the correlations between computed tomography (CT) criteria for hepatic steatosis and lipid profile values when hepatic steatosis is incidentally detected. PARTICIPANTS AND METHODS: This is an institutional Review Board-approved, HIPPA-compliant, retrospective study of abdominal CT scans in 200 randomly selected patients who had either nonenhanced CT (NECT) or contrast-enhanced CT (CECT) studies with reported fatty liver. The participants were matched for age, sex, and ethnicity with 200 patients with nonfatty liver. For NECT, four different criteria have been proposed in the literature to diagnose fatty liver: (i) liver Hounsfield Units (HU) less than 48 HU, (ii) ratio of liver to spleen HU less than 0.8, (iii) HU difference between liver and spleen less than -10, and (iv) hepatic vessel HU greater than or equal to liver HU. For CECT, the criteria was attenuation difference between liver and spleen HU, in the portal venous phase of up to -20 to -25 HU. Laboratory results (low-density lipoprotein, high-density lipoprotein, triglycerides) were documented. Matched analyses and conditional logistic regression analysis were carried out for matched variables. RESULTS: There were statistically significant differences in triglyceride values, between the cases and controls (P=0.02), when all criteria were considered. Also, statistically significant differences were found between cases and controls on the basis of NECT criterion 2 and high-density lipoprotein (P=0.04), as well as CECT criteria and triglyceride levels (P=0.02). In addition, the data indicate that criteria for steatosis on CECT may be more broad than traditionally utilized. CONCLUSION: Incidental reporting of fatty liver on NECT/CECT should prompt consideration of clinical follow-up and lipid profile testing in an otherwise asymptomatic patient. Additional metrics for the diagnosis of steatosis in CECT exam should also be considered

Application of machine learning to the prediction of postoperative sepsis after appendectomy

Background: We applied various machine learning algorithms to a large national dataset to model the risk of postoperative sepsis after appendectomy to evaluate utility of such methods and identify factors associated with postoperative sepsis in these patients. Methods: The National Surgery Quality Improvement Program database was used to identify patients undergoing appendectomy between 2005 and 2017. Logistic regression, support vector machines, random forest decision trees, and extreme gradient boosting machines were used to model the occurrence of postoperative sepsis. Results: In the study, 223,214 appendectomies were identified; 2,143 (0.96%) were indicated as having postoperative sepsis. Logistic regression (area under the curve 0.70; 95% confidence interval, 0.68-0.73), random forest decision trees (area under the curve 0.70; 95% confidence interval, 0.68-0.73), and extreme gradient boosting (area under the curve 0.70; 95% confidence interval, 0.68-0.73) afforded similar performance, while support vector machines (area under the curve 0.51; 95% confidence interval, 0.50-0.52) had worse performance. Variable importance analyses identified preoperative congestive heart failure, transfusion, and acute renal failure as predictors of postoperative sepsis. Conclusion: Machine learning methods can be used to predict the development of sepsis after appendectomy with moderate accuracy. Such predictive modeling has potential to ultimately allow for preoperative recognition of patients at risk for developing postoperative sepsis after appendectomy thus facilitating early intervention and reducing morbidity. (c) 2020 Elsevier Inc. All rights reserved.National Institute of Health T32 NIGMS [5T32GM008750-20]; National Institute of Health T32 NIAAA [5T32AA013527-17]Dr C. Bunn is supported by National Institute of Health T32 NIGMS 5T32GM008750-20. Dr S. Kulshrestha is supported by National Institute of Health T32 NIAAA 5T32AA013527-17.WOS:0006165864000312-s2.0-85091249604PubMed: 3295190

Synthesis and biological profile of substituted benzimidazoles

Abstract Background A series of benzimidazole derivatives was developed and its chemical scaffolds were authenticated by NMR, IR, elemental analyses and physicochemical properties. The synthesized compounds were screened for their antimicrobial and antiproliferative activities. Results and discussion The synthesized benzimidazole compounds were evaluated for their antimicrobial activity using the tube dilution method and were found to exhibit good antimicrobial potential against selected Gram negative and positive bacterial and fungal species. The compounds were also assessed for their anticancer activity exhibited using the SRB assay and were found to elicit antiproliferative activity against MCF7 breast cancer cell line, which was comparable to the standard drug. Conclusion Antimicrobial screening results indicated that compounds 1, 2 and 19 to be promising antimicrobial agents against selected microbial species and comparable to standard drugs which included norfloxacin and fluconazole. The anticancer screening results revealed that compounds, 12, 21, 22 and 29 to show the highest activity against MCF7 and their IC50 values were more potent than 5-fluorouracil

Assessing individual patients’ knowledge of benign versus malignant skin lesions in the dermatology clinic population

Background:. Skin cancer education targeted to patients’ needs is a goal of practicing dermatologists. Data regarding dermatology patients’ baseline knowledge regarding skin cancer could aid clinicians in tailoring education efforts. Objective:. To help quantify existing patients’ existing visual recognition of skin cancer and common benign lesions, with the goal of helping to provide more targeted and meaningful education to patients. Methods:. Two hundred forty-four adult patients from the dermatology clinics at University of Oklahoma and Loyola University Chicago were surveyed using digital images and questions regarding personal and family history of skin cancer, sun protection practices and sun protection knowledge. Results:. Of the 244 subjects, 43% percent had a positive personal history of skin cancer, 40% had a positive family history. Scores differed minimally by personal history of skin cancer (p = .37) but differed more markedly by family history of skin cancer (p = .02). Limitations:. Lack of generalizability to the general public, age range of subjects. Conclusions:. There are knowledge gaps within the dermatology patient population regarding common benign and malignant skin lesions

Increasing the versatility of the biphenyl-fused-dioxacyclodecyne class of strained alkynes

Biphenyl-fused-dioxacyclodecynes are a promising class of strained alkyne for use in Cu-free ‘click’ reactions. In this paper, a series of functionalised derivatives of this class of reagent, containing fluorescent groups, are described. Studies aimed at understanding and increasing the reactivity of the alkynes are also presented, together with an investigation of the bioconjugation of the reagents with an azide-labelled protein.</p