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Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study

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Case Reports in Clinical Medicine 2024年第1期13卷 25-36页

作者： Brock Futrell Christopher Alexander Malaya Dacia martinez Diaz Christian Alfaro Hannah elizabeth Gustafson Subhalakshmi Chandrasekaran Rhea Mohan Phatak Bernhard Suter Charles Shannon Layne Department of Health and Human Performance University of Houston Houston USA Center for Neuromotor and Biomechanics Research University of Houston Houston USA Department of Computer Science and Engineering Texas A&M University College Station USA Blue Bird Circle Rett Center Texas Children’s Hospital Houston USA Baylor College of Medicine Houston USA Center for NeuroEngineering and Cognitive Science University of Houston Houston USA

NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic, dyskinetic, and dysmetric movements. Developing a consistent and concise consensus on the classification and evaluation of tremors is essential to forward the research and treatment of tremors. It has also been reported that some individuals with NGLY1 Deficiency demonstrate tremor, but such tremor has never been formally investigated. The primary objective of this study is to determine if an individual with NGLY1 Deficiency demonstrates an identifiable tremor during a series of arm movements and, if so, describe the frequency and power characteristics of that tremor. Arm movement kinematics were obtained using a 16-camera Vicon system, and time series trajectory waveforms for three planes of a marker placed on the hand were developed. Custom MATLAB scripts were utilized to compute Fast Fourier Transformations of the data within the identified waveform segments. A mean frequency of 2.30 Hz (SD = 1.05) with a mean power of 5.02 |P1(f)| (SD = 4.63) suggests that our participant’s kinematic data did display a persistent tremor in both hands across all tasks and movement planes. Analyses of the reaching hand and the non-reaching hand suggest the participant displayed an action tremor in both postural and intention (kinetic) tremors. Future directions should include assessing additional individuals with NGLY1 Deficiency to determine if the tremor is a distinguishable disorder behavior. Additionally, evaluating other anatomical sites, such as the elbow, head, and lower limbs, would provide further insights into the characteristics of this tremor.

关键词： Tremor NGLY Fast Fourier Transformation Reaching Hyperkinetic Movement

Men becoming fathers by injection were more often age intracytoplasmic sperm born small for gestational

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Asian Journal of Andrology 2017年第1期19卷 103-106页

作者： Susanne Liffner Mats Hammar Marie Bladh elizabeth Nedstrand Heriberto Rodriguez martinez Gunilla Sydsjo Obstetrics and Gynecology Department of Clinical and Experimental Medicine Faculty of Medicine and Health Sciences Linkoping University SE-581 85 LinkopingSweden

Being born with nonoptimal birth characteristics decreases the chance of becoming a father. Urogenital malformations as well as metabolic syndrome are more common in men born small for gestational age （SGA） and could be contributing factors to the reduced fertility rate seen in these men. It could imply that men becoming fathers by assisted reproductive technology （ART） more often are born with low birth weight （LBW）, preterm, and/or SGA than men conceiving without treatment and also that men where intracytoplasmic sperm injection （ICSI） had to be performed more often are born with nonoptimal birth characteristics than men where conventional in vitro fertilization （IVF） successfully could be used. In this retrospective, case-control study using Swedish national registers, we compared the birth characteristics of 1206 men who have become fathers by ART with a control group consisting of age-matched men who became fathers without treatment. The differences in birth characteristics between men becoming fathers by IVF and ICSI were also assessed. For men becoming fathers by ART, OR of being born with LBW was 1.66 （95% CI = 1.17-2.36） compared with fathers who conceived without treatment. OR of being born prematurely was 1.32 （95% CI = 1.00-1.77）. Men becoming fathers via ICSI had a doubled increased likelihood of being born SGA compared with men who became fathers via IVF （OR = 2.12; 95% CI = 1.17-3.83）. In conclusion, we have found that men becoming fathers by ICSI treatments had more often been born SGA than men becoming fathers by conventional IVF.

关键词： infertility intracytoplasmic sperm injection in vitro fertilization low birth weight preterm small for gestational age

Impact of psychosocial comorbidities on clinical outcomes after liver transplantation: Stratification of a high-risk population

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World Journal of Hepatology 2019年第8期11卷 638-645页

作者： Neil Bhogal Amaninder Dhaliwal elizabeth Lyden Fedja Rochling Marco Olivera-martinez Department of Internal Medicine Division of Gastroenterology and Hepatology University of Nebraska Medical Center Omaha NE 68198 United States Department of Biostatistics Division of Public Health University of Nebraska Medical Center Omaha NE 68198 United States

BACKGROUND Liver transplantation is the accepted standard of care for end-stage liver disease due to a variety of etiologies including decompensated cirrhosis, fulminant hepatic failure, and primary hepatic malignancy. There are currently over 13000 candidates on the liver transplant waiting list emphasizing the importance of rigorous patient selection. There are few studies regarding the impact of additional psychosocial barriers to liver transplant including financial hardship, lack of caregiver support, polysubstance abuse, and issues with medical noncompliance. We hypothesized that patients with certain psychosocial comorbidities experienced worse outcomes after liver transplantation. AIM To assess the impact of certain pre-transplant psychosocial comorbidities on outcomes after liver transplantation. METHODS A retrospective analysis was performed on all adult patients from 2012-2016. Psychosocial comorbidities including documented medical non-compliance, polysubstance abuse, financial issues, and lack of caregiver support were collected. The primary outcome assessed post-transplantation was survival. Secondary outcomes measured included graft failure, episodes of acute rejection, psychiatric decompensation, number of readmissions, presence of infection, recidivism for alcohol and other substances, and documented caregiver support *** For the primary outcome, there were no differences in survival. Patients with a history of psychiatric disease had a higher incidence of psychiatric decompensation after liver transplantation (19% vs 10%, P = 0.013). Treatment of psychiatric disorders resulted in a reduction of the incidence of psychiatric decompensation (21% vs 11%, P = 0.022). Patients with a history of polysubstance abuse in the transplant evaluation had a higher incidence of substance abuse after transplantation (5.8% vs 1.2%, P = 0.05). In this cohort, 15 patients (3.8%) were found to have medical compliance issues in the transplant evaluation. Of

关键词： Liver transplantation Recidivism Psychosocial decompensation Noncompliance Transplant psychiatry

In Vitro Evaluation of Two Tissue Substitutes for Gingival Augmentation

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Journal of Biomaterials and Nanobiotechnology 2023年第2期14卷 23-34页

作者： Tulio Cardoso dos Santos Carlos Nelson Elias Alexandre Barboza Lemos Andresa Borges Soares André Antonio Pelegrine Lucas Novaes Teixeira elizabeth Ferreira martinez Division of Oral Implantology Faculdade S&#227o Leopoldo Mandic Campinas SP Brazil Department of Materials Science Military Institute of Engineering (IME) Rio de Janeiro RJ Brazil Division of Oral Pathology Faculdade S&#227o Leopoldo Mandic Campinas SP Brazil Division of Cell Biology Faculdade S&#227o Leopoldo Mandic Campinas SP Brazil

Three-dimensional collagen matrices of porcine origin are being used as substitutes for soft tissue grafts in periodontal plastic surgery in search of aesthetic and natural results. This in vitro study aimed to compare Fibro-Gide® (GeistlichBiomaterials) and Mucoderm® (BotissBiomaterials) matrices during the initial phase of soft tissue formation. For this purpose, samples of 5 × 5 mm were obtained, and then human fibroblasts were plated on them. After 24, 48 and 72 h, cell viability was assessed using an MTT assay, and the secretion of type I collagen, MMP-2, TIMP-1 and TIMP-2 was analyzed by ELISA immunoassay. The control group (C) consisted of cells plated on polystyrene without the matrices. The morphology of the surfaces was also examined using scanning electron microscopy (SEM), as was the average roughness (Ra) of the samples by a profilometer. Topographic analysis revealed that roughness was significantly higher on Mucoderm® than on Fibro-Gide® (p 0.05). The synthesis of type I collagen, MMP-2 and TIMP-1 were significantly higher from cells plated on Fibro-Gide® than on Mucoderm®, in all time points (p ® than on Mucoderm® (p ® induced an increase in type I collagen, MMP-2 and TIMP-1 and TIMP-2.

关键词： Collagen Matrices Gingival Recession Periodontal Regeneration Matrix Metalloproteinases

Malaria Interventions with Elements of the Ecohealth Approach： Experiences in Latin America

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Journal of Health Science 2014年第10期2卷 503-515页

作者： Sandra martinez Fabian Ardila Pinto elizabeth Alwers elizabeth Borrero Fundacion Santa Fe de Bogota Centro de Estudios e Investigacion en Salud--CEIS 110111 Bogota Columbia

Synthesis of Tenoltrifluoroacetone Composite Doped with Terbium, Dysprosium and Europium Encapsulated in Silica Oxide Matrix

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Journal of Surface Engineered Materials and Advanced Technology 2020年第4期10卷 63-74页

作者： Yazmin Francisco Dulce Medina Miguel Barron Joan Reyes Pedro Adrian martinez Angel de Jesus Morales elizabeth Garfias Universidad Autónoma Metropolitana Departamento de Materiales Ciencias Básicas e Ingeniería Reynosa Tamaulipas México Instituto Politécnico Nacional ESIQIE UPALM S/N Mexico City México

The synthesis of the thenoyltrifluoroacetone compound doped with terbium, dysprosium and europium encapsulated in a silica matrix (TTA:Tb:Dy:Eu@SiO2) were performed by the sol-gel method. The precursors to obtain the vitreous phase (SiO2) were: Tetraethylorthosilicate (TEOS, C8H2O4Si, 98%, Aldrich), and ethyl alcohol (CH3CH2OH, 99.5%, Meyer), distilled water and 0.05 ml of hydrochloric acid (HCl, Meyer). The sample with molar ratio 20:80 TTA:Tb:Dy:Eu@SiO2 has the best emission intensity. Thermogravimetric analysis (TGA) shown that silica encapsulated samples decompose at lower temperatures than pure TTA:Tb:Dy:Eu luminescent material. Fourier Transform Infrared (IR-TF) shown the characteristic Si-O-Si bands that are presented at a wavelength of 1049, 853 and 440 cmǃ confirming that the luminescent material is encapsulated in a silica matrix, finally X-ray diffraction (XRD) shown that TTA:Tb:Dy:Eu@SiO2 composite is amorphous.

关键词： Synthesis Luminescence Composite Sol-Gel Terbium Dysprosium and Europium

The Effect of Audio Visual Entrainment on Pre-Attentive Dysfunctional Processing to Stressful Events in Anxious Individuals

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Open Journal of Medical Psychology 2014年第5期3卷 364-372页

作者： Guadalupe Villarreal Trevino Ernesto Octavio Lopez Ramirez Guadalupe elizabeth Morales martinez Claudia Castro Campos Maria Elena Urdiales Ibarra Cognitive Science Laboratory Department of PsychologyUniversidad Autonoma de Nuevo LeonMonterreyMexico

Experimental single case studies on automatic processing of emotion were carried on a sample of people with an anxiety disorder. Participants were required to take three Audio Visual Entrainment (AVE) sessions to test for anxiety reduction as proclaimed by some academic research. Explicit reports were measured as well as pre-attentive bias to stressing information by using affective priming studies before and after AVE intervention. Group analysis shows that indeed AVEs program applications do reduce anxiety producing significant changes over explicit reports on anxiety levels and automatic processing bias of emotion. However, case by case analysis of six anxious participants shows that even when all of the participants report emotional improvement after intervention, not all of them reduce or eliminate dysfunctional bias to stressing information. Rather, they show a variety of processing styles due to intervention and some of them show no change at all. Implications of this differential effect to clinical sets are discussed.

关键词： Audio Visual Entrainment Anxiety Disorders Affective Priming Single Case Experimental Study

Biodrying under Greenhouse Conditions as Pretreatment for Horticultural Waste

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Journal of Environmental Protection 2012年第4期3卷 298-303页

作者： Fabian Robles-martinez elizabeth M.Silva-Rodriguez Teodoro Espinosa-Solares Belem Pina-Guzman Carmen Calixto-Mosqueda Francisco J.Colomer-Mendoza Enrique Duran-Paramo Unidad Profesional Interdisciplinaria de Biotecnología Instituto Politecnico NacionalMexico CityMexico Gus R.Douglass Institute West Virginia State UniversitySouth CharlestonUSA Departamento de Ingenieria Agroindustrial Universidad Autonoma ChapingoTexcocoMexico Departamento de Ingenieria Mecanica y Construccion Universitat Jaume ICastellonSpain

The biodrying process was studied as an alternative technology to reduce the mass and volume of horticultural waste. Four static piles were prepared inside a greenhouse: two containing whole waste and two consisting of shredded waste. All the piles were compared with a test pile containing whole waste and placed outside the greenhouse. In two cases, ventilation ducts were installed to improve aeration. Each greenhouse was 2.0 m wide, 3.5 m long and 1.16 m high. The air temperature and relative humidity were monitored both inside and outside the greenhouse. Mass, humidity, organic matter and total nitrogen in the waste were measured. Piles inside the greenhouse showed decreases of 80% and 75% in weight and volume, respectively, during the first 16 days. The data obtained in this work suggest that biodrying could improve the handling and transport of horticultural waste while also minimizing the impact of pollutants.

关键词： Solid Waste Aerobic Degradation Stabilization Greenhouse

In Vitro Evaluation of Two Tissue Substitutes for Gingival Augmentation

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