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Autism and Schizophrenia Are Disorders of Evolvability

Open Journal of Medical Psychology 2014年第2期3卷 161-183页

作者： c. thomas Gualtieri North carolina Neuropsychiatry PA Attention & Memory Centers Chapel Hill Charlotte and Raleigh NC USA

Autism and schizophrenia are of particular interest because new developments in genomic medicine address three aspects of the conditions that have been difficult, thus far, to resolve: their heterogeneity, from subclinical manifestations to disorders that are gravely disabling;the genetic basis for their high heritability;and the persistence of disorders in light of their high heritability but low reproductive success they convey. The origins of autism and schizophrenia, their persistence and heterogeneity can be understood by integrating information from genomic science, the social brain and the evolution of socialization, intelligence and language. Both conditions are associated with structural changes in the genome, specifically copy number variants. Such systemic mutations contribute to an unstable and mutable genome and have been especially notable during primate > hominid evolution. Along with mechanisms that affect gene expression, they contribute to a genome characterized by variability and evolvability. A dynamic and variable genome is reflected by a high degree of phenotypic variation. This, in turn, is reflected in the diversity of neurodevelopmental disorders, in particular autism and schizophrenia. Evolvability is more than a dispositional concept, it is a trait in its own right. In the special case of hominid evolution, evolvability has been both an independent and a dependent variable. Evolution of the modern human brain seems to have arisen during the cultivation of unstable regions in the genome that were conducive to a high degree of inter-individual and inter-generational variation. The consequence of even small aberrations in evolutionary processes and phenotypic variations is most likely to be manifest in the functions of the social brain: self-referential processing, perspective taking and the dual components of empathy;also language as well as intelligence itself. The trade-off is a dynamic genome that can rearrange itself in untoward ways and

关键词： Autism Schizophrenia Genomic Transformation copy Number Variants Social Brain Evolvability

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Magnetic resonance elastography is accurate in detecting advanced fibrosis in autoimmune hepatitis

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World Journal of Gastroenterology 2017年第5期23卷 859-868页

作者： Jin Wang Neera Malik Meng Yin thomas c Smyrk Albert J czaja Richard L Ehman Sudhakar K Venkatesh Department of Radiology Mayo Clinic College of MedicineMayo Clinic Department of Radiology the Third Affiliated HospitalSun Yat-Sen University Laboratory Medicine and Pathology Mayo Clinic College of MedicineMayo Clinic Department of Gastroenterology and Hepatology Mayo Clinic College of MedicineMayo Clinic

AIM To assess the value of magnetic resonance elastography (MRE) in detecting advanced fibrosis/cirrhosis in autoimmune hepatitis (AIH). METHODS In this retrospective study, 36 patients (19 treated and 17 untreated) with histologically confirmed AIH and liver biopsy performed within 3 mo of MRE were identified at a tertiary care referral center. Liver stiffness (LS) with MRE was calculated by a radiologist, and inflammation grade and fibrosis stage in liver biopsy was assessed by a pathologist in a blinded fashion. Two radiologists evaluated morphological features of cirrhosis on conventional magnetic resonance imaging (MRI). Accuracy of MRE was compared to laboratory markers and MRI for detection of advanced fibrosis/cirrhosis. RESULTS Liver fibrosis stages of 0, 1, 2, 3 and 4 were present in 4, 6, 7, 6 and 13 patients respectively. There were no significant differences in distribution of fibrosis stage and inflammation grade between treated and untreated patient groups. LS with MRE demonstrated stronger correlation with liver fibrosis stage in comparison to laboratory markers for chronic liver disease (r = 0.88 vs -0.48-0.70). A trend of decreased mean LS in treated patients compared to untreated patients was observed (3.7 kPa vs 3.84 kPa) but was not statistically significant. MRE had an accuracy/sensitivity/specificity/positive predictive value/negative predictive value of 0.97/90%/100%/100%/90% and 0.98/92.3%/96%/92.3%/96% for detection of advanced fibrosis and cirrhosis, respectively. The performance of MRE was significantly better than laboratory tests for detection of advanced fibrosis (0.97 vs 0.53-0.80, p cirrhosis (0.98 vs 0.58-0.80, p conventional MRI for diagnosis of cirrhosis (0.98 vs 0.78, p = 0.002). cONcLUSION MRE is a promising modality for detection of advanced fibrosis and cirrhosis in patients with AIH with superior diagnostic accuracy compared to laboratory assessment and MRI.

关键词： autoimmune hepatitis advanced fibrosis magnetic resonance elastography liver stiffness cirrhosis

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Adolescent Pregnancy: Epidemiological Survey in Schools and Obstetrical Outcomes in Douala (cameroon)

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Open Journal of Obstetrics and Gynecology 2020年第9期10卷 1163-1175页

作者： Essome Henri Eposse Ekoube charlotte Egbe Obinchemti thomas D. c. Kedy Koum Halle Ekane Gregory Nana Njamen Théophile Penda Ida calixte Boten merlin Tocki Toutou Grâce Foumane Pascal Laquintinie Hospital in Douala Douala Cameroon Faculty of Medicine and Pharmaceutical Sciences of Douala University of Douala Douala Cameroon Douala General Hospital Douala Cameroon Faculty of Health Sciences of Buea University of Buea Buea Cameroon Faculty of Medicine and Biomedical Sciences of Yaoundé University of Yaounde 1 Yaounde Cameroon

Introduction: According to the World Health Organization (WHO), adolescence is the period of growth between 10 and 19 years of age. complications from pregnancy are the second leading cause of death for adolescent gir... 详细信息

Introduction: According to the World Health Organization (WHO), adolescence is the period of growth between 10 and 19 years of age. Complications from pregnancy are the second leading cause of death for adolescent girls aged 15 to 19 worldwide. Objective: In order to reduce the phenomenon of early pregnancy, we set out to determine its prevalence as well as its outcome among adolescent girls in secondary schools in the Douala 3rd district in Cameroon. Methodology: To achieve our objective, we conducted an analytical case-control study from November 08, 2018 to June 26, 2019, in ten secondary establishments in the Douala 3rd district. Included in the study were all adolescent girls, students in one of the secondary schools in the said district who agreed to participate in the study. Data analysis was done using SPSS 20.0 software. The significance threshold was set at p 0.05. Results: A total of 445 adolescent girls were selected, including 89 cases and 356 controls. In 87.6% of the cases, the pregnancy was accidental and 58.4% used voluntary abortion. The univariate analysis of the results showed that the factor associated with the occurrence of teenage pregnancies was the age above 17 years (OR = 1.44;CI = 1.31 -

关键词： Pregnancy Adolescence clandestine Abortion

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Rotational stability of plate haptic toric intraocular lenses after combined 25-gauge vitrectomy and cataract surgery

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International Journal of Ophthalmology(English edition) 2023年第8期16卷 1231-1236页

作者： Lara Buhl Julian Langer Stefan Kassumeh thomas c.Kreutzer Wolfgang J.Mayer Siegfried G.Priglinger Department of Ophthalmology University HospitalLMU MunichMunich 80336Germany

AIM:To evaluate the postoperative intraocular lens(IOL)rotational stability and residual refractive astigmatism following combined 25-gauge vitrectomy and cataract surgery with implantation of a plate haptic toric ***:In this retrospective case series,32 eyes of 32 patients underwent a combined 25-gauge vitrectomy and phacoemulsification for vitreoretinal diseases and cataract with regular corneal astigmatism of at least 1 diopter(D).A plate haptic toric IOL(AT Torbi 709M,carl Zeiss Meditec AG)was implanted in all *** outcome measures were rotational stability and refractive astigmatism up to 6mo postoperatively as well as the best corrected visual acuity(BcVA).RESULTS:Preoperative refractive astigmatism was 2.14±1.17 D,which was significantly reduced to 0.77±0.37 D six to eight weeks postoperatively and remained stable throughout the observation period(0.67±0.44 D at three months and 0.75±0.25 D at six months;for all groups:Pcompared to baseline).BcVA improved significantly from 0.36±0.33 logMAR preoperatively to 0.10±0.15 logMAR following surgery(P=0.02).Mean IOL axis deviation from the target axis was 3.4°±2.9°after six to eight weeks and significantly decreased over time(2.4°±2.6°six months after surgery;P=0.04).In one patient IOL,re-alignment was ***:corneal astigmatism is significantly reduced following combined 25-gauge vitrectomy and cataract *** plate haptic toric IOL position and axis remain stable during the observation period of six months.

关键词： combined phaco-vitrectomy toric intraocular lens rotational stability corneal astigmatism cataract vitreoretinal disease

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Alternative uses of lumen apposing metal stents

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World Journal of Gastroenterology 2020年第21期26卷 2715-2728页

作者： Prabin Sharma thomas R Mccarty Ankit chhoda Antonio costantino caroline Loeser Thiruvengadam Muniraj Marvin Ryou christopher c Thompson Department of Gastroenterology and Hepatology Yale-New Haven Health-Bridgeport HospitalBridgeportCT 06610United States Division of Gastroenterology Hepatology and EndoscopyBrigham and Women’s HospitalHarvard Medical SchoolBostonMA 02115United States Department of Internal Medicine Yale-New Haven Health-Bridgeport HospitalBridgeportCT 06708United States Section of Digestive Diseases Yale University School of MedicineNew HavenCT 06520United States

The advent of lumen apposing metal stents(LAMS)has revolutionized the management of many complex gastroenterological conditions that previously required surgical or radiological *** procedures have garnered popularity due to their minimally invasive nature,higher technical and clinical success rate and lower rate of adverse *** virtue of their unique design,LAMS provide more efficient drainage,serve as conduit for endoscopic access,are associated with lower rates of leakage and are easy to be *** used for drainage of pancreatic fluid collections,the use of LAMS has been extended to gallbladder and biliary drainage,treatment of luminal strictures,creation of gastrointestinal fistulae,pancreaticobiliary drainage,improved access for surgically altered anatomy,and drainage of intra-abdominal and pelvic abscesses as well as post-surgical fluid *** new indications of endosonographic techniques and LAMS continue to evolve,this review summarizes the current role of LAMS in the management of these various complex conditions and also highlights clinical pearls to guide successful placement of LAMS.

关键词： Lumen apposing metal stents Walled off necrosis Gallbladder drainage Biliary drainage Gastric access temporary for endoscopy Gastric outlet obstruction Therapeutic endoscopy

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Pyogenic liver abscess:An audit of 10 years’experience

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World Journal of Gastroenterology 2011年第12期17卷 1622-1630页

作者： Tony cY Pang thomas Fung Jaswinder Samra thomas J Hugh Ross c Smith Upper Gastrointestinal Surgical Unit Royal North Shore HospitalUniversity of SydneySt Leonards NSW 2065Australia

AIM:To describe our own experience with pyogenic liver abscesses over the past 10 years and investigate the risk factors associated with failure of initial percutaneous ***:A retrospective study of records of 63 PLA patients presenting between 1998 and 2008 to Australian tertiary referral centre,were *** and hydatid abscesses were ***,clinical,radiological,and microbiological characteristics,as well as surgical/radiological interventions,were ***:Sixty-three patients(42 males,21 females) aged 65(±14) years[mean±(SD) ]had prodromal symptoms for a median(interquartile range;IQR) of 7(5-14) *** 59%of patients were febrile at presentation;however,the serum c-reactive protein was elevated in all 47 in whom it was *** function tests were non-specifically abnormal.67%of patients had a solitary abscess,while 32%had>3 abscesses with a median(IQR) diameter of 6.3(4-9) *** organisms were:Streptococcus milleri 25%,Klebsiella pneumoniae 21%,and Escherichia coli 16%.A presumptive cryptogenic cause was most common (34%).Four patients died in this series:one from sepsis,two from advanced cancer,and one from acute myocardial *** initial procedure was radiological aspiration±drainage in 54 and surgery in two patients.17%underwent surgical management during their *** hypoalbuminaemia[mean (95%cI) :32(29-35) g/L vs 28(25-31) g/L,P=0.045] on presentation was found to be the only factor related to failure of initial percutaneous therapy on univariate ***:PLA is a diagnostic challenge,because the presentation of this condition is *** antibiotics and radiological drainage in the first instance allows resolution of most PLAs;However,a small proportion of patients still require surgical drainage.

关键词： Pyogenic liver abscess Image guided drainage Surgical drainage c-reactive protein Hypoalbuminaemia

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Successful aspiration and ethanol sclerosis of a large,symptomatic, simple liver cyst:case presentation and review of the literature

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World Journal of Gastroenterology 2006年第18期12卷 2949-2954页

作者： Wojciech c Blonski Mical S campbell thomas Faust David c Metz Division of Gastroenterology University of PennsylvaniaPhiladelphiaPAUnited States and Department of Gastroenterology and HepatologyWroclaw Medical UniversityPoland Division of Gastroenterology University of PennsylvaniaPhiladelphiaPAUnited States

Simple liver cysts are congenital with a prevalence of 2.5%-4.25%. Imaging, whether by US, cT or MRI, is accurate in distinguishing simple cysts from other etiologies, including parasitic, neoplastic, duct-related, and traumatic cysts. Symptomatic simple liver cysts are rare, and the true frequency of symptoms is not known. Symptomatic simple liver cysts are predominantly large （〉 4 cm）, right-sided, and more common in women and older patients. The vast majority of simple hepatic cysts require no treatment or follow-up, though large cysts （〉 4 cm） may be followed initially with serial imaging to ensure stability. Attribution of symptoms to a large simple cyst should be undertaken with caution, after alternative diagnoses have been excluded. Aspiration may be performed to test whether symptoms are due to the cyst; however, cyst recurrence should be expected. Limited experience with both laparoscopic deroofing and aspiration, followed by instillation of a sclerosing agent has demonstrated promising results for the treatment of symptomatic cysts. Here, we describe a patient with a large, symptomatic, simple liver cyst who experienced complete resolution of symptoms following cyst drainage and alcohol ablation, and we present a comprehensive review of the literature.

关键词： Simple hepatic cyst Alcohol sclerosis Laparoscopic deroofing

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Sample indexed spatial orthogonal frequency division multiplexing

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chinese Optics Letters 2014年第9期12卷 10-14页

作者： Pankil Butala Hany Elgala thomas D.c.Little Department of Electrical and computer Engineering Boston University

Optical spatial modulation （OSM） is a multiple-transmitter technique that can provide higher data rates with low system complexity as compared with single-input single-output systems. Orthogonal frequency division multiplexing （OFDM） is widely implemented to achieve better spectral efficiency in wireless channels. Asymmetrically clipped optical OFDM （O-OFDM） and Dc-biased O-OFDM are two well-known O-OFDM techniques suitable for intensity-modulation direct-detection optical systems. In this work, sample indexed spatial OFDM （SIS-OFDM） is proposed to combine OSM and O-OFDM in a novel way and achieve significant per- formance gain. By assigning time-domain samples of the O-OFDM transmit symbol to different transmitters, SIS-OFDM achieves much better spectral efficiency and reduces computational complexity at the transmitter as compared with previous work that combines OSM with O-OFDM in the frequency domain. We also consider the impact of optical source biasing on overall performance, and the relative performance of imaging receiver （ImR） versus non-imaging receiver （NImR） design for our proposed SIS-OFDM technique. Results indicate that for an Ntx x Nrx multiple-input multiple-output configuration where Nix = N = 4, SIS-OFDM using ImR can achieve up to 135 dB of signal-to-noise ratio gain over comparable system using a NImR. Also, using Nc number of O-OFDM subcarriers provides up to Nsc × log2（Ntx） additional bits per symbol of spectral efficiency over technioues that combine OSM and O-OFDM in the freollencv domain.

关键词： OFDM SIS DcO Sample indexed spatial orthogonal frequency division multiplexing

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早期地球海洋水化学分带的理论预测

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中国科学：地球科学 2015年第11期45卷 1829-1838页

作者：李超程猛 thomas J.ALGEO 谢树成中国地质大学生物地质与环境地质国家重点实验室武汉430074 中国地质大学地球科学学院武汉430074 中国地质大学地质过程与矿产资源国家重点实验室武汉430074 Department of Geology University of Cincinnati

寒武纪早期及以前的地球海洋(>520 Ma;以下简称为"早期地球海洋")具有广泛缺氧分层和有限氧化剂供应等特点,其化学特征可与现代海洋陆架区沉积物孔隙水类比.依据相似的地球化学原理和对于早期地球海洋化学形成机制的理解,本文提出早期... 详细信息

寒武纪早期及以前的地球海洋(>520 Ma;以下简称为"早期地球海洋")具有广泛缺氧分层和有限氧化剂供应等特点,其化学特征可与现代海洋陆架区沉积物孔隙水类比.依据相似的地球化学原理和对于早期地球海洋化学形成机制的理解,本文提出早期地球海洋在陆架-斜坡浅水-中等水深区域在理想化条件下可能存在多个由不同氧化还原过程控制的动态化学分带,从近岸浅水到远洋深水依次发育:氧化带、NO3?-NO2?富集带、Mn2+-Fe2+富集带、硫化带、cH4富集带和深水Fe2+区.它们是大气自由氧对表层海水的氧化、化学跃变层之下反硝化作用、近岸区域锰铁氧化物还原作用、硫酸盐还原作用、产甲烷作用和深水热液Fe2+输入动态平衡后的结果.该化学分带模型细化了目前已有的古海洋水化学状态分类,对现有的古海洋"硫化楔"模型进行了扩展和补充,并较好解释了早期地球海洋不寻常的Mo-S-c同位素地球化学记录.该化学分带模型对未来早期地球海洋化学演化及元素生物地球化学循环研究具有指导意义.

关键词：元古代寒武纪早期海洋氧化还原化学缺氧硫化

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Evaluating the Spatial Uncertainty of Future Land Abandonment in a Mountain Valley(Vicdessos, Pyrenees-France): Insights from Model Parameterization and Experiments

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Journal of Mountain Science 2015年第5期12卷 1095-1112页

作者： thomas Houet Laure Vacquié David Sheeren GEODE UMR 5602 cNRS –UT2J Université Toulouse Jean Jaurès Maison de la recherche 5 allées Antonio Machado31058 Toulouse Cedex Dynafor UMR 1201 INRA/INPT-ENSAT Ecole Nationale Supérieure Agronomique de Toulouse Avenue del’Agrobiopole B.P. 32607 - Auzeville-Tolosane 31326 - Castanet-Tolosan Cédex

European mountains are particularly sensitive to climatic disruptions and land use *** latter leads to high rates of natural reforestation over the last 50 years. Faced with the challenge of predicting possible impacts on ecosystem services,LUcc models offer new opportunities for land managers to adapt or mitigate their *** the spatial uncertainty of future LUcc is crucial for the definition of sustainable land use strategies. However, the sources of uncertainty may differ, including the input parameters, the model itself, and the wide range of possible futures. The aim of this paper is to propose a method to assess the probability of occurrence of future LUcc that combines the inherent uncertainty of model parameterization and the ensemble uncertainty of the future based scenarios. For this purpose, we used the Land change Modeler tool to simulate future LUcc on a study site located in the Pyrenees Mountains(France) and two scenarios illustrating two land use strategies. The model was parameterized with the same driving factors used for its calibration. The definition of ‘static vs. dynamic' and ‘quantitative ***(discretized)' driving factors, and their combination resulted in four parameterizations. The combination of model outcomes produced maps of the spatial uncertainty of future LUcc. This work involves adapting the definition of spatial uncertainty in the literature to future-based LUcc studies. It goes beyond the uncertainty of simulation models by integrating the uncertainty of the future to provide maps to help decision makers and land managers.

关键词： Land use Land cover Scenario Model Mountainous reforestation Land abandonment Landmanagement

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