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3-dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 deficiency and a Neurotypical Individual

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Case Reports in Clinical Medicine 2024年第4期13卷 122-146页

作者： Charles S. Layne Christopher A. Malaya Brock Futrell dacia Martinez diaz christian Alfaro Hannah E. Gustafson Subhalakshmi Chandrasekaran Rhea M. Phatak Bernhard Suter department of Health and Human Performance University of Houston Houston TX USA Center for Neuromotor and Biomechanics Research University of Houston Houston TX USA Center for Neuro Engineering and Cognitive Science University of Houston Houston TX USA department of Computer Science and Engineering Texas A&M University College Station TX USA Blue Bird Circle Rett Center Texas Children&#8217s Hospital Houston TX USA Baylor College of Medicine Houston TX USA

NGLY1 deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3d initiation area as a percentage of the complete movement. The stati

关键词： NGLY1 deficiency developmental disorders Kinematics 3 dimensional Analyses

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Assessment of the Vaccination Status of Children Aged 6 to 30 Months in a Tertiary Level Health Care Center in Côte d’Ivoire

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Open Journal of Pediatrics 2024年第3期14卷 536-546页

作者： Yenan John Patrick Kpangni Jean Bertrand Yao Kouassi christian Yeboua Yao Kossonou Roland Aka-Tanoh Koko Aude Hélène Avi-Siallou Christelle Honorine Asse Kouadio Vincent department of Pediatrics University Teaching Hospital of Bouake Bouake Ivory Coast Unit Pediatric Surgery University Teaching Hospital of Bouake Bouake Ivory Coast

Introduction: Vaccination coverage in Côte d’Ivoire over the period 2011 to 2015 was below the target of 95% for all antigens. The objective of this study was to analyze the vaccination status of children aged 6 to 30 months with a view to improving vaccination coverage. Patients and Methods: This was a descriptive cross-sectional study which took place from June to September 2018 in a tertiary health center, focusing on children aged 6 to 30 months with a correctly completed health record. The parameters studied were sex, age, educational level of mothers, dates of vaccine administration and reason for missed vaccination opportunities. Results: We retained 212 children. The sex ratio was 1.21 and 93% had received the BCG vaccine before the age of 1 month. The average ages of combined and co-administered vaccines for the 1st and 2nd doses were 7.66 ± 3.81 and 12.88 ± 3.95 weeks, respectively. The median was 16.57 weeks for the 3rd dose. The proportion of vaccinated subjects was greater than 90% for the BCG vaccine and the 3 doses of combined vaccines, and 77% for the yellow fever and measles vaccines. The reasons for non-vaccination were attributable to the children’s parents and health facilities. Conclusion: Improving vaccination coverage requires regular supply of vaccines to centers, and the involvement of all health professionals, community and religious leaders in the vaccination awareness process.

关键词： Children Vaccination Coverage Missed Opportunities

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Lower Extremity Arterial disease in Patients with Type 2 diabetes: Prevalence and Associated Factors at the Libreville University Hospital Center

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World Journal of Cardiovascular diseases 2024年第5期14卷 295-308页

作者： Allognon Mahutondji christian Ayo Bivigou Elsa Ntoutoume Mvé dylan Anthony N’nang Jean-Fidel Kinga Armel Mpori Jamila Myrtille Akagah Kondé Christelle Ndoume Obiang Francis Yékini Carole Fadylath Ndjibah Alakoua Cajole Ludvine Babongui Boussougou Latifah Mipinda Jean-Bruno Moubamba Franck Ecke Nzengue Jean-Emmanuel Houenassi dèdonougbo Martin Boguikouma Jean-Bruno department of Medicine and Medical Specialties Health Sciences University (USS) Libreville Gabon Cardiology Service Libreville University Hospital Center (CHUL) Libreville Gabon department of Physiology Health Sciences University Libreville Gabon Amissa Bongo Regional Hospital Franceville Gabon Mother-Child Hospital Center Jeanne Ebori Foundation Libreville Gabon Medicine Service Owendo University Hospital Center Owendo Gabon

Introduction: Lower extremity arterial disease in diabetic patients has distinct characteristics. Objectives: To study the hospital frequency of lower extremity arterial disease and identify associated factors in diabetic patients at the Libreville University Hospital Center (CHUL). Materials and Methods: This was a cross-sectional study conducted from July 1, 2023, to January 31, 2024, in the endocrinology department of the CHUL. All patients with type 2 diabetes over the age of 18 admitted to this department, regardless of the reason for hospitalization, who provided informed consent, were included. Socio-demographic data and cardiovascular risk factors were recorded. Personal and family cardiovascular history and functional symptoms were investigated. The physical examination included measuring blood pressure, heart rate, and the ankle-brachial index in all patients. Results: A total of 219 patients were included, of whom 75 had lower extremity arterial disease, representing a prevalence of 34.24%. It was compensated in 28 cases (37.33%) and decompensated in 39 patients (52%). In eight cases (10.67%), there was critical chronic ischemia. Cardiovascular risk factors associated with diabetes were physical inactivity (89.5%), hypertension (55.25%), overweight (49.77%), obesity (22.84%), and smoking (10.04%). In multivariate analysis, only hypertension (OR = 2.09;95% CI: 1.05 - 4.17;p = 0.035) and LdL cholesterol (OR = 2.75;95% CI: 1.10 - 6.85;p = 0.03) were significantly associated with lower extremity arterial disease in diabetics at the University Hospital of Libreville. Conclusion: Lower extremity arterial disease is common in diabetic patients at the University Hospital of Libreville. It is often asymptomatic, thus requiring systematic screening.[-rId11-]

关键词： Lower Extremity Arterial disease diabetes Hypertension Ankle-Brachial Index Gabon

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determination of specificity influencing residues for key transcription factor families

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Frontiers of Electrical and Electronic Engineering in China 2015年第3期10卷 115-123页

作者： Ronak Y Patel christian Garde Gary d Stormo department of Genetics School of Medicine Washington University St. Louis MO 63108 USA. Center for Biological Sequence Analysis Department of Systems Biology Technical University of Denmark Kgs. Lyngby DK 2800 Denmark.

Transcription factors （TFs） are major modulators of transcription and subsequent cellular processes. The binding of TFs to specific regulatory elements is governed by their specificity. Considering the gap between known TFs sequence and specificity, specificity prediction frameworks are highly desired. Key inputs to such frameworks are protein residues that modulate the specificity of TF under consideration. Simple measures like mutual information （MI） to delineate specificity influencing residues （SIRs） from alignment fail due to structural constraints imposed by the three-dimensional structure of protein. Structural restraints on the evolution of the amino-acid sequence lead to identification of false SIRs. In this manuscript we extended three methods （direct information, PSICOV and adjusted mutual information） that have been used to disentangle spurious indirect protein residue-residue contacts from direct contacts, to identify SIRs from joint alignments of amino-acids and specificity. We predicted SIRs for homeodomain （HI））, helix-loop-helix, LacI and GntR families of TFs using these methods and compared to MI. Using various measures, we show that the performance of these three methods is comparable but better than MI. Implication of these methods in specificity prediction framework is discussed. The methods are implemented as an R package and available along with the alignments at http：//***/SpecPred.

关键词： protein-dNA interactions residue co-variance motifs co-evolution feature selection direct information specificity determinants

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Reducing anastomotic leak in colorectal surgery: The old dogmas and the new challenges

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World Journal of Gastroenterology 2019年第34期25卷 5017-5025页

作者： Jeremy Meyer Surennaidoo Naiken Niki Christou Emilie Liot christian Toso Nicolas christian Buchs Frédéric Ris division of digestive Surgery University Hospitals of Geneva

Anastomotic leak(AL)constitutes a significant issue in colorectal surgery,and its incidence has remained stable over the last *** use of intra-abdominal drain or the use of mechanical bowel preparation alone have been proven to be useless in preventing AL and should be *** role or oral antibiotics preparation regimens should be clarified and compared to other routes of administration,such as the intravenous route or *** parallel,preoperative antibiotherapy should aim at targeting collagenase-inducing pathogens,as identified by the microbiome *** can be further reduced by fluorescence angiography,which leads to significant intraoperative changes in surgical *** of fluorescence angiography should be *** made in AL comprehension and prevention might probably allow reducing the rate of diverting stoma and conduct to a revision of its indications.

关键词： Anastomotic leakage Rectal surgery Colic surgery Prevention Surgical site infection Anastomosis Complication

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Psychological Experience of Mothers of Children with Sickle Cell disease Followed at the Pediatric department of Bouaké University Teaching Hospital

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Open Journal of Pediatrics 2024年第1期14卷 149-163页

作者： Akanji Iburaima Alamun Aka-Tanoh Koko Aude Hélène Yao Kouassi christian Adou Leioh Romeo Sahi Gnantin Josette Landryse Amani Ehi Alexise Eleonore Boune Aboulaye Asse Kouadio Vincent Paediatrics department Bouaké University Teaching Hospital Bouaké C&#244te d’Ivoire

Introduction: Sickle cell disease has physical and emotional repercussions on the child and his family. The aim of this study was to describe the psychosocial experiences of mothers of children with sickle cell disease in order to improve the overall care of the child. Methods: This was a descriptive cross-sectional study carried out in the pediatrics department of Bouaké University Teaching Hospital from June to September 2023. It focused on mothers of major sickle-cell-affected children followed up in the pediatrics department of the Bouaké University Teaching Hospital. The variables studied were sociodemographic, psychological, social and economic. Results: Of the 40 mothers surveyed, 15% were not in school and 32.5% were unemployed. For them, sickle cell disease was of natural (genetic) origin in 90% and supernatural in 10%. They stated that the child had an average age of 36 months (extremes 7 and 108 months) when the disease was discovered. And 52% of them were satisfied with the way the disease was clearly and completely announced. Following the announcement, the questioned mothers said they had felt shock (35%), sadness (31.7%), guilt (23.3%) and discouragement (10%). Anxiety and depression were experienced by 77.5% and 22.5% respectively. In 60% of cases, they stated that the disease was incurable, and the outcome was fatal in 2.5% of cases. The child’s illness was a source of problems in the home in 25% of cases, represented by arguments in 92% and divorce in 8%. In 97.5% of cases, the mother told her family and friends about the child’s illness. In 90% of cases, the mother and child benefited from psychological support from family and friends. Conclusion: Sickle cell disease is a serious illness with a psychological and social impact on mothers. We recommend psychological support for mothers from the moment of diagnosis and throughout follow-up.

关键词： Psychosocial Experience Sickle Cell disease Côte d’Ivoire

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Static-based early-damage detection using symbolic data analysis and unsupervised learning methods

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Frontiers of Structural and Civil Engineering 2015年第1期9卷 1-16页

作者： Joao Pedro SANTOS christian CREMONA Andre d. ORCESI Paulo SILVEIRA Luis CALAdO department of Structures Av. Brasil 101 Lisbon 1700-066 Portugal Technical Center for Bridge Engineering CEREMA B.P. 214 Provins Cedex 77487 France Materials and Structures department IFSTTAR University Paris-Est 14-20 Boulevard Newton Champs sur Marne Marne la Vallee Cedex2 F-77447 France department of Civil Engineering Technical University Lisbon Avenida Rovisco Pais Lisbon 1096 Portugal

A large amount of researches and studies have been recently performed by applying statistical and machine learning techniques for vibration-based damage detection. However, the global character inherent to the limited number of modal properties issued from operational modal analysis may be not appropriate for early-damage, which has generally a local character. The present paper aims at detecting this type of damage by using static SHM data and by assuming that early-damage produces dead load redistribution. To achieve this objective a data driven strategy is proposed, consisting of the combination of advanced statistical and machine learning methods such as principal component analysis, symbolic data analysis and cluster analysis. From this analysis it was observed that, under the noise levels measured on site, the proposed strategy is able to automatically detect stiffness reduction in stay cables reaching at least 1%.

关键词： structural health monitoring early-damage detection principal component analysis symbolic data symbolic dissimilarity measures cluster analysis numerical model damage simulations

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2023年Abel奖获得者Luis Angel Caffarelli访谈录

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数学译林 2024年第1期43卷 8-13页

作者： Bjorn Ian dundas christian F.Skau 陆柱家(译) 童欣(校) 挪威卑尔根大学挪威Trondheim科技大学不详

dundas&Skau(以下简写为“d&S”):Caffarelli教授,首先我们要祝贺您获得2023年的Abel(阿贝尔)奖,因为您“对非线性偏微分方程正则性理论,包括自由边界问题和Monge-Ampere(蒙日-安培)方程的开创性贡献”.明天挪威国王下将向您颁奖,我们... 详细信息

dundas&Skau(以下简写为“d&S”):Caffarelli教授,首先我们要祝贺您获得2023年的Abel(阿贝尔)奖,因为您“对非线性偏微分方程正则性理论,包括自由边界问题和Monge-Ampere(蒙日-安培)方程的开创性贡献”.明天挪威国王下将向您颁奖,我们将回到您的数学,但首先了解一下您的背景可能是个好主意.1948年您出生在布宜诺斯艾利斯.您如何描述您的童年?

关键词：自由边界问题非线性偏微分方程阿贝尔开创性贡献

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Epidemiological, Clinical and Paraclinical Profile of Osteoarthritis of the Lower Limbs in Obese Patients at the Cocody University Teaching Hospital

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Open Journal of Rheumatology and Autoimmune diseases 2024年第2期14卷 69-76页

作者： Nzima Brice Kollo Aboubakar Bamba¹ Aboubacar Sidiki Condé Nzima Hilary Ngon Kanbaye Medom Ada Nina Kpami Yaya Coulibaly Kan Joseph Enoch Koffi Ehaulier Soh christian Louis Kouakou Mohamed diomandé¹ Edmond Eti Rheumatology department Cocody University Hospital Abidjan C&#244te d&#8217Ivoire Internal Medicine department Yaounde University Hospital Yaounde Cameroon Rheumatology department Bouake University Hospital Bouake C&#244te d&#8217Ivoire

Objective: To describe the epidemiological, clinical and paraclinical characteristics of osteoarthritis of the lower limbs in obese patients at the Cocody University Teaching Hospital. Methodology: This was an analytical cross-sectional study carried out in the rheumatology department of the Cocody UTH in Abidjan (Ivory Coast) from March 1 to April 30 2023. Patients who came for rheumatology consultation presenting with mechanical arthralgia of the lower limbs, who were obese, had radiographic images were included. All patients without radiographic images were excluded. Obesity was defined as a body mass index (BMI) greater than or equal to 30 kg/m. The Chi2 test was used to compare proportions and determine the existence of associations between osteoarthristis and obesity, obesity severity and radiographic stage of osteoarthritis as well as the functional impact. A p-value below a predefined threshold (p = 0,05) indicates a significant relationship between the variables. Result: Out of 185 patients received for osteoarthritis of the lower limbs during the study period, 136 were obese (74%). There were 115 women (84.6%) with an average age of 56.03 with a standard deviation of 12.72 years (extremes: 22 and 84 years). The main socio-professional category was the informal sector (30%). The majority of patients had a low socio-economic level (80.2%) and lived in urban areas (92.6%). The most common past medical history was hypertension (33.08%) followed by peptic ulcer disease (16.91%). Patients had a body mass index class 1 (81.6%), class 2 (15.40%) and class 3 (2.90%). The average duration of symptom progression until diagnosis was 11 months. Genu varum was the main static disorder (56.10%) and the knee joint was the dominant topography (90.4%) with a bilateral localization (80%). The average Lequesne index was greater than 8 (59.5%). The Kellgren and Lawrence radiographic stages were stage 1 (9.20%), stage 2 (46.90%), stage 3 (29.20%) and stage 4 (6.90%).

关键词： Osteoarthritis Lower Limbs Obesity Abidjan

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Robot Off-Line Programming for Thermal Spraying

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稀有金属材料与工程 2012年第S1期41卷 13-17页

作者： christian Coddet Laboratoire d'Etudes et de Recherches sur les Matériaux les Procédés et les Surfaces(LERMPS)Université de Technologie de Belfort-Montbéliard(UTBM)Belfort Cedex 90010French

The purpose of this study is to introduce the current applications of off-line programming technology in thermal spraying,including some popular methods of path generation,procedure simulation,robot kinematics optimization,*** this technology reduces the difficulty of robot programming and enormously improves its facility for thermal *** the last part of this paper,presented two examples of off-line programming in thermal spraying which refer to trajectory optimization on a work piece with a great angle and path generation on the complex work *** simulations and experiments have proved that off-line programming can effectively improve the production efficiency and the quality of coating.

关键词： off-line programming toolkit thermal spraying trajectory optimization

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