ABSTRACT
The autism spectrum disorders(ASDs)are a complex group of neuropsychiatric conditions defined by impairment in three core behavioral domains:social interaction,verbal and non-verbal communication,and restricted interests/repetitive behaviors. Extensive genetic studies have led to the identification of many autism susceptibility genes,and increased understanding on the contribution of de novo and inherited copy number variation. Here,we seek to place recent genetic findings within a developmental and brain circuit context,and approach the basic understanding of autism neuropathology from multiple genetic,molecular,cellular and neural circuit domains. The authors reviewed literatures that interrogates brain mechanisms of ASDs utilizing animal models,primarily in mice. Understanding genetic data within a brain development context will shed light on how individual risk genes operate to determine patient symptomatology,which will inform circuit specific behavioral interventions leading to better intervention and disease outcomes.
ABSTRACT
Background and Objective: Colorectal serrated polyp is considered as histologically heterogeneous lesions with malignant potential. The aim of the study was to evaluate the endoscopic, clinic and pathologic characteristics of colorectal serrated polyps
Methods: The endoscopic, clinic and pathologic characteristics of 52 cases with colorectal serrated polyps between January 2014 and May 2018 in our hospital were analyzed. Retrospectively
Results: The prevalence of serrated polyps was 0.39% [52/13,346]. The proportions of hyperplastic polyp [HP], sessile serrated adenoma/polyp [SSA/P], and traditional serrated adenoma [TSA] of all serrated polyps were 61.5%, 17.3%, and 21.2%, respectively, which showed a lower proportion of TSA and SSA/P and a higher proportion of HP
Conclusions: The overall detection rate of colorectal serrated polyps was relatively low, and it is necessary to discriminate between SSAPs and HPs during endoscopic examination because of the malignant potential
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the allelic loss of heterozygosity (LOH) in the region of chromosome 4p15.1-4q12 in nasopharyngeal carcinoma (NPC) patients with family history.</p><p><b>METHODS</b>Tumor cells and lymphocytes were obtained from paraffin-embedded biopsied tissue section by microdissection. LOH detections were carried out on 25 NPC patients with family history by PCR-based microsatellite polymorphism analysis using 7 pairs of microsatellite markers primers. The microsatellite loci located in 4p15.1-4q12 region. Genescan software was used to analyse LOH at each locus.</p><p><b>RESULTS</b>Ninety-two percent of NPC cases (23/25) with family history was showed at least one microsatellite marker of LOH. Higher frequencies of LOH were found at three loci: D4S238 (56%), D4S350 (50%), D4S1547 (50%). The minimal common region of deletion might be defined between D4S350 and D4S1547.</p><p><b>CONCLUSION</b>The higher incidence of LOH at D4S350 and D4S1547 suggests that there may be a potential tumor suppressor gene located in the two regions.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Chromosomes, Human, Pair 4 , Genetics , Family Health , Loss of Heterozygosity , Nasopharyngeal Neoplasms , Genetics , Polymerase Chain ReactionABSTRACT
The geometries of azobenzene compounds are optimized with B3LYP/6-311G* method, and analyzed with nature bond orbital, then their visible absorption maxima are calculated with TD-DFT method and ZINDO/S method respectively. The results agree well with the observed values. It was found that for the calculation of visible absorption using ZINDO/S method could rapidly yield better results by adjusting OWF(pi-pi) (the relationship between pi-pi overlap weighting factor) value than by the TD-DFT method. The method of regression showing the linear relationship between OWF(pi-pi) and BL(N-N) (nitrogen-nitrogen bond lengths) as OWF(pi-pi)=-8.1537+6.5638BL(N-N), can be explained in terms of quantum theory, and also be used for prediction of visible absorption maxima of other azobenzne dyes in the same series. This study on molecules' orbital geometry indicates that their visible absorption maxima correspond to the electron transition from HOMO (the highest occupied molecular orbital) to LUMO (the lowest unoccupied molecular orbital).
Subject(s)
Absorption , Azo Compounds , Chemistry , Radiation Effects , Computer Simulation , Electron Transport , Radiation Effects , Light , Models, Chemical , Models, MolecularABSTRACT
Shandong is a large province in northeastern China with a population of over 80 million. There are over 800,000 births annually with newborn screening testing currently being performed in 15 laboratories in city maternity and child health care hospitals. Since 1996, the number of newborns screened has steadily increased until the number screened annually now exceeds 600,000 (over 70%). During the period from 1996--2000, there were 97 cases of classical PKU confirmed and 399 cases of congenital hypothyroidism giving incidences of 1:11,644 and 1:2,831 respectively. The large number of newborns screened and the relatively large number of screening laboratories presents a quality control challenge since ideally each newborn should receive identical newborn screening services and the laboratories should be of equal abilities. With assistance from the US Centers for Disease Control (CDC), a provincial laboratory quality control program has been established and provides oversight for a newborn screening system from blood collection through treatment of patients. The goal is to ensure that patients with the disorders of interest can be identified from within the normal newborn population with an acceptable minimum number of false positives while attempting to eliminate false negatives. External proficiency testing materials are provided quarterly by the CDC, repackaged by the Center for Newborn Screening Quality Control of Shandong (CNQCS), and distributed to the testing laboratories. Analytical results are reported within a specified period of time and then compared to CDC reported results. Laboratories unable to analyze the samples correctly are provided technical assistance. Additionally, the CNQCS oversees and provides educational assistance in training phlebotomists and other health workers associated with newborn screening. Brochures, posters, videotapes and parent support groups are also developed as a function of the CNQCS. Ultimately, control materials will be prepared for distribution with linkages to CDC for international comparability.