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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu Jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

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Fully endoscopic far-lateral supracerebellar infratentorial approach for trigeminal neuralgia: illustrative case reports

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中华神经外科杂志(英文) 2024年第2期10卷 1-5页

作者： Yao Hong Yang Wenlei Tang Hao Cheng Yijun Lin Shaojian Wu Zhe Bao Department of Neurosurgery Center of Pituitary Tumor Ruijin Hospital Shanghai Jiao Tong University School of Medicine# Ruijin Er Road Shanghai China

Background Trigeminal neuralgia (TN) is a common cause of craniofacial pain. The retrosigmoid approach is usually used to treat TN, but no cases of endoscopic far-lateral supracerebellar infratentorial approach (EF-SCITA) were used to undergo operation for *** presentation Two patients were presented with severe facial pain and preliminary diagnosis was TN. Preoperative magnetic resonance imaging revealed that a superior cerebellar artery (SCA) compressed the trigeminal nerve in case 1, and a tumor located in the petrous apex extending into the Meckel’s cave compressed the trigeminal nerve in case 2. Operations were achieved through the EF-SCITA. The pain was totally relieved with no postsurgical complications in both *** We present the first two case reports of EF-SCITA to relieve classical and secondary TN successfully. The EF-SCITA can be a promising approach for treating TN.

关键词： Approach Endoscopic surgery Trigeminal neuralgia

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Coordinate-wise monotonic transformations enable privacy-preserving age estimation with 3D face point cloud

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Science China(Life Sciences) 2024年第7期67卷 1489-1501页

作者： Xinyu Yang Runhan Li Xindi Yang Yong Zhou Yi Liu Jing-Dong J.Han School of Life Sciences Peking UniversityBeijing 100871China Peking-Tsinghua center for Life Sciences Academy for Advanced Interdisciplinary StudiesCenter for Quantitative Biology(CQB)Peking UniversityBeijing 100871China Beijing Key Lab of Traffic Data Analysis and Mining School of Computer and Information TechnologyBeijing Jiaotong UniversityBeijing 100044China Clinical Research Institute Shanghai General HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China

The human face is a valuable biomarker of aging,but the collection and use of its image raise significant privacy *** we present an approach for facial data masking that preserves age-related features using coordinate-wise monotonic *** first develop a deep learning model that estimates age directly from non-registered face point clouds with high accuracy and *** show that the model learns a highly indistinguishable mapping using faces treated with coordinate-wise monotonic transformations,indicating that the relative positioning of facial information is a low-level biomarker of facial *** visual perception tests and computational3D face verification experiments,we demonstrate that transformed faces are significantly more difficult to perceive for human but not for machines,except when only the face shape information is *** study leads to a facial data protection guideline that has the potential to broaden public access to face datasets with minimized privacy risks.

关键词： face point cloud age estimation face verification privacy coordinate-wise monotonic transformation

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facial Reconstruction with Combined facial,Neck and Occipital Skin Flap Transplantation

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2002年第1期22卷 80-81,86页

作者：陶学金郭三兰陈为民马净植 Department of Maxillo facial Surgery Center of Stomatological Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030

To treat large facial defect (more than 6 cm×4 cm in diameter ) or a wound with bone exposure to atmosphere by less traumatic, easier healing reconstruction method, a pedicle flap including facial, neck, posterior auricle and occipital skin flap was designed and transferred, one by one, to repair facial defect as well as other flap donor sites, but occipital skin flap was only used to cover posterior auricle area. After 2-3 years follow up, well healed skin flaps with good color, elasticity and sensation were observed in all 16 patients. It is concluded that this method is effective and practical.

关键词： facial defect skin flap reconstruction

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Single-cell transcriptomics reveals cell atlas and identifies cycling tumor cells responsible for recurrence in ameloblastoma

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International Journal of Oral Science 2024年第2期16卷 251-264页

作者： Gan Xiong Nan Xie Min Nie Rongsong Ling Bokai Yun Jiaxiang Xie Linlin Ren Yaqi Huang Wenjin Wang Chen Yi Ming Zhang Xiuyun Xu Caihua Zhang Bin Zou Leitao Zhang Xiqiang Liu Hongzhang Huang Demeng Chen Wei Cao Cheng Wang Hospital of Stomatology Sun Yat-sen UniversityGuangzhouChina Guangdong Provincial Key Laboratory of Stomatology Sun Yat-sen UniversityGuangzhouChina Guanghua School of Stomatology Sun Yat-sen UniversityGuangzhouChina Department of Periodontics Affiliated Stomatology Hospital of Guangzhou Medical UniversityGuangzhou Key Laboratory of Basic and Applied Research of Oral Regenerative MedicineGuangzhouChina Institute for Advanced Study Shenzhen UniversityShenzhenChina center for Translational Medicine The First Affiliated HospitalSun Yat-sen UniversityGuangzhouChina State Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangzhouChina Department of Oral and Maxillofacial Surgery Nanfang HospitalSouthern Medical UniversityGuangzhouChina Department of Oral and Maxillofacial&Head and Neck Oncology Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghaiChina National center for Stomatology National Clinical Research Center for Oral diseasesShanghai Key Laboratory of StomatologyShanghaiChina

Ameloblastoma is a benign tumor characterized by locally invasive phenotypes,leading to facial bone destruction and a high recurrence ***,the mechanisms governing tumor initiation and recurrence are poorly ***,we uncovered cellular landscapes and mechanisms that underlie tumor recurrence in ameloblastoma at single-cell *** results revealed that ameloblastoma exhibits five tumor subpopulations varying with respect to immune response(IR),bone remodeling(BR),tooth development(TD),epithelial development(ED),and cell cycle(CC)*** note,we found that CC ameloblastoma cells were endowed with stemness and contributed to tumor recurrence,which was dominated by the EZH2-mediated *** EZH2 effectively eliminated CC ameloblastoma cells and inhibited tumor growth in ameloblastoma patient-derived *** data described the tumor subpopulation and clarified the identity,function,and regulatory mechanism of CC ameloblastoma cells,providing a potential therapeutic target for ameloblastoma.

关键词： inhibited cycling eliminated

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Symmetrization of quasi-regular patterns with periodic tilting of regular polygons

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Computational Visual Media 2024年第3期10卷 559-576页

作者： Zhengzheng Yin Yao Jin Zhijian Fang Yun Zhang Huaxiong Zhang Jiu Zhou Lili He School of Computer Science and Technology Zhejiang Sci-Tech UniversityHangzhou 310018China Zhejiang Provincial Innovation center of Advanced Textile Technology Shaoxing 312000China School of Media Engineering Communication University of ZhejiangHangzhou 310018China

Computer-generated aesthetic patterns arewidely used as design materials in various fields. Themost common methods use fractals or dynamicalsystems as basic tools to create various patterns. Toenhance aesthetics and controllability, some researchershave introduced symmetric layouts along with thesetools. One popular strategy employs dynamical systemscompatible with symmetries that construct functionswith the desired symmetries. However, these aretypically confined to simple planar symmetries. Theother generates symmetrical patterns under theconstraints of tilings. Although it is slightly moreﬂexible, it is restricted to small ranges of tilingsand lacks textural variations. Thus, we proposed anew approach for generating aesthetic patterns bysymmetrizing quasi-regular patterns using general kuniformtilings. We adopted a unified strategy toconstruct invariant mappings for k-uniform tilings thatcan eliminate texture seams across the tiling ***, we constructed three types of symmetriesassociated with the patterns: dihedral, rotational, andreﬂection symmetries. The proposed method can beeasily implemented using GPU shaders and is highlyefficient and suitable for complicated tiling with regularpolygons. Experiments demonstrated the advantages of our method over state-of-the-art methods in terms ofﬂexibility in controlling the generation of patterns withvarious parameters as well as the diversity of texturesand styles.

关键词： quasi-regular patterns(QRP) k-uniform tilings invariant mappings symmetry aesthetic patterns

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De Novo Dissecting the Three‑Dimensional facial Morphology of 2379 Han Chinese Individuals

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Phenomics 2024年第1期4卷 1-12页

作者： Hui Qiao Jingze Tan Shaoqing Wen Menghan Zhang Shuhua Xu Li Jin State Key Laboratory of Genetic Engineering Center for Evolutionary BiologyCollaborative Innovation Center for Genetics and DevelopmentSchool of Life SciencesFudan UniversityShanghai 200438China Ministry of Education Key Laboratory of Contemporary Anthropology Human Phenome InstituteZhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Institute of Archaeological Science Fudan UniversityShanghai 200433China Institute of Modern Languages and Linguistics Fudan UniversityShanghai 200433China Department of Liver Surgery and Transplantation Liver Cancer Institute Zhongshan HospitalFudan UniversityShanghai 200032China

Phenotypic diversity,especially that of facial morphology,has not been fully investigated in the Han Chinese,which is the largest ethnic group in the *** this study,we systematically analyzed a total of 14,838 facial traits representing 15 categories with both a large-scale three-dimensional(3D)manual landmarking database and computer-aided facial segmented phenotyping in 2379 Han Chinese *** results illustrate that homogeneous and heterogeneous facial morphological traits exist among Han Chinese populations across the three geographical regions:Zhengzhou,Taizhou,and *** identifed 1560 shared features from extracted phenotypes,which characterized well the basic facial morphology of the Han *** particular,heterogeneous phenotypes showing population structures corresponded to geographical *** greatest facial variation among these geographical populations was the angle of glabella,left subalare,and right cheilion(p=3.4×10^(−161)).Interestingly,we found that Han Chinese populations could be classifed into northern Han,central Han,and southern Han at the phenotypic level,and the facial morphological variation pattern of central Han Chinese was between the typical diferentiation of northern and southern Han *** result was highly consistent with the results revealed by the genetic *** fndings provide new insights into the analysis of multidimensional phenotypes as well as a valuable resource for further facial phenotype-genotype association studies in Han Chinese and East Asian populations.

关键词： Phenotypes Three-dimensional facial imaging facial morphology Han Chinese

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Tunable nano-engineered anisotropic surface for enhanced mechanotransduction and soft-tissue integration

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Nano Research 2023年第5期16卷 7293-7303页

作者： Pingping Han Tianqi Guo Anjana Jayasree Guillermo A.Gomez Karan Gulati Sašo Ivanovski The University of Queensland School of DentistryEpigenetics nanodiagnostic and therapeutic groupCenter for Oral-facial RegenerationRehabilitation and Reconstruction(COR3)BrisbaneQueensland 4006Australia The University of Queensland School of DentistryBrisbaneQueensland 4006Australia The University of Queensland School of DentistryGroup for Anodized Therapies for OsseointegrationRegeneration and StimulationCenter for Oral-facial RegenerationRehabilitation and Reconstruction(COR3)BrisbaneQueensland 4006Australia Centre for Cancer Biology South Australia Pathology and the University of South AustraliaAdelaideSouth Australia 5001Australia

Electrochemically engineered titania(TiO_(2))nanopores enable tailored cellular function;however,the cellular mechanosensing mechanisms dictating the cell response and soft tissue integration are yet to be ***,we report the fabrication of anisotropic TiO_(2)nanopores with diameters of 46 and 66 nm on microrough titanium(Ti)via electrochemical anodization,towards short-and long-term guidance of human primary gingival fibroblasts(hGFs).Cells on tissue culture plates and bare Ti substrates were used as ***,we show that nanopores with a diameter of 66 nm induced more mature focal adhesions of vinculin and paxillin at the membrane,encouraged the development of actin fibers at focal adhesion sites,led to elongated cell and nuclear *** topographical-driven changes were attributed to the Ras-related C3 botulinum toxin substrate 1(Rac 1)GTPase pathway and nuclear localisation of LAMIN A/C and yes-associated protein(YAP)and associated with increased ligament differentiation with elevated expression of the ligament marker Mohawk homeobox(MKX).Study findings reveal that minor tuning of nanopore diameter is a powerful tool to explore intracellular and nuclear mechanotransduction and gain insight into the relationships between nanomaterials and mechanoresponsive cellular elements.

关键词： titanium nanopores nanotopography fibroblast mechanosensing mechanotransduction ligament differentiation

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Protocol for the management of oral surgery patients on warfarin utilizing a Point-of-Care In-Office international normalized ratio monitoring device

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Open Journal of Stomatology 2013年第4期3卷 255-267页

作者： Gregory P. Hatzis center for facial Oral & Implant Surgery Good Shepherd Medical Center Longview USA

Purpose: This study was performed to assess the utility and safety of an In-Office INR Monitoring Device and present a safe and efficient protocol for the management of patients on oral anticoagulants and/or antithrombolytics requiring routine office oral and maxillofacial surgery. Patients and Methods: Sixty-one patients requiring “minor” oral and maxillofacial surgery being treated chronically with oral anticoagulation (warfarin) were entered into the study and compared in 2 groups. The control group (n = 29) was managed by discontinuing warfarin and any anti-platelet medication(s) prior to surgery. In the study group (n = 30), the decision to continue or withhold warfarin was determined by a protocol in which patients are 1) stratified based on risk for thromboembolism, and 2) classified as requiring “major” or “minor” surgery. Procedures categorized as “minor” surgery included dental extraction(s), dental implants, soft tissue and bone biopsies, and preprosthetic bone surgery, and incision and drainage. Warfarin and antiplatelet medication were not withheld in these patients, and a Point-of-Care In-Office INR Monitoring Device was used to obtain INR levels on the day of consultation and surgery. Local measures including removal of granulation tissue, packing, suturing, etc. were utilized for hemostasis. Results: The 30 patients in the study group maintained on warfarin readily achieved hemostasis using intraoperative local measures. The mean INR measured by the In-Office INR Monitoring Device was 2.36 with a range from 1.3 to 3.2. Study group patients underwent a total of 131 separate procedures including 108 dental extractions (impactions), placement of dental implants, preprosthetic bony surgery, bone cyst removal, soft tissue biopsies, facial skin cancer repair, and incision and drainage. One patient (3%) required “minor” intervention with removal of a “liver clot” on postop day 2 with repacking and suturing. The 29 patients in the control group discontinued

关键词： Point-Of-Care In-Office INR International Normalized Ratio Thromboembolism Perioperative Care Anticoagulated Oral and Maxillofacial Surgery Extraction Warfarin Coumadin Oral Surgery

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Improved guided bone regeneration by combined application of unmodified, fresh autologous adipose derived regenerative cells and plasma rich in growth factors:A first-in-human case report and literature review

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World Journal of Stem Cells 2019年第2期11卷 124-146页

作者： ?nder Solakoglu Werner G?tz Maren C Kiessling Christopher Alt Christoph Schmitz Eckhard U Alt Dental Department of the University Medical center Hamburg-Eppendorf Clinic for Periodontology and Implantology Department of Orthodontics Center of Dento-Maxillo-Facial MedicineUniversity of Bonn Institute of Anatomy Faculty of MedicineLMU Munich InGeneron GmbH InGeneron Inc. Isar Klinikum Munich

BACKGROUND Novel strategies are needed for improving guided bone regeneration(GBR) in oral surgery prior to implant placement, particularly in maxillary sinus augmentation(GBR-MSA) and in lateral alveolar ridge augmentation(LRA). This study tested the hypothesis that the combination of freshly isolated, unmodified autologous adipose-derived regenerative cells(UA-ADRCs), fraction 2 of plasma rich in growth factors(PRGF-2) and an osteoinductive scaffold(OIS)(UAADRC/PRGF-2/OIS) is superior to the combination of PRGF-2 and the same OIS alone(PRGF-2/OIS) in GBR-MSA/*** SUMMARY A 79-year-old patient was treated with a bilateral external sinus lift procedure as well as a bilateral lateral alveolar ridge augmentation. GBR-MSA/LRA was performed with UA-ADRC/PRGF-2/OIS on the right side, and with PRGF-2/OIS on the left side. Biopsies were collected at 6 wk and 34 wk after GBRMSA/LRA. At the latter time point implants were placed. Radiographs(32 mo follow-up time) demonstrated excellent bone healing. No radiological or histological signs of inflammation were observed. Detailed histologic,histomorphometric, and immunohistochemical analysis of the biopsies evidenced that UA-ADRC/PRGF-2/OIS resulted in better and faster bone regeneration than PRGF-2/*** GBR-MSA with UA-ADRCs, PRGF-2, and an OIS shows effectiveness without adverse effects.

关键词： Case report Cell-based therapy Guided bone regeneration Maxillary sinus augmentation Lateral alveolar ridge augmentation Unmodified autologous adipose-derived regenerative cells Stem cells

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