Stephanie J. Hanna1 · Rachel H. Bonami2,3,4,5 · Brian Corrie6,7 · Monica Westley8 · Amanda L. Posgai9 · Eline T. Luning Prak10 · Felix Breden6,7 · Aaron W. Michels11 · Todd M. Brusko9,12,13 · Type 1 Diabetes AIRR Consortium
Received: 26 May 2024 / Accepted: 19 August 2024 / Published online: 29 October 2024
© The Author(s) 2024
Extended author information available on the last page of the article
Abstract
Human molecular genetics has brought incredible insights into the variants that confer risk for the development of tissuespecific autoimmune diseases, including type 1 diabetes. The hallmark cell-mediated immune destruction that is characteristic of type 1 diabetes is closely linked with risk conferred by the HLA class II gene locus, in combination with a broad array of additional candidate genes influencing islet-resident beta cells within the pancreas, as well as function, phenotype and trafficking of immune cells to tissues. In addition to the well-studied germline SNP variants, there are critical contributions conferred by T cell receptor (TCR) and B cell receptor (BCR) genes that undergo somatic recombination to yield the Adaptive Immune Receptor Repertoire (AIRR) responsible for autoimmunity in type 1 diabetes. We therefore created the T1D TCR/ BCR Repository (The Type 1 Diabetes T Cell Receptor and B Cell Receptor Repository) to study these highly variable and dynamic gene rearrangements. In addition to processed TCR and BCR sequences, the T1D TCR/BCR Repository includes detailed metadata (e.g. participant demographics, disease-associated parameters and tissue type). We introduce the Type 1 Diabetes AIRR Consortium goals and outline methods to use and deposit data to this comprehensive repository. Our ultimate goal is to facilitate research community access to rich, carefully annotated immune AIRR datasets to enable new scientific inquiry and insight into the natural history and pathogenesis of type 1 diabetes.
Keywords AIRR · AIRR Data Commons · Autoantibodies · B cell receptors · FAIR data · Next-generation sequencing · Single-cell RNA-seq · T cell receptors · Type 1 diabetes
Abbreviations
AAb Autoantibody/autoantibodies
ADC AIRR Data Commons
AIM Activation-induced marker
AIRR Adaptive Immune Receptor Repertoire
AIRR-seq AIRR sequencing
BCR B cell receptor
CDR3 Complementarity determining region 3
FAIR Findable, Accessible, Interoperable, Reusable
GEO Gene Expression Omnibus
HPAP Human Pancreas Analysis Program
IEDB Immune Epitope Database
MiAIRR Minimal information about AIRR
ML Machine learning
pLN Pancreatic lymph node(s)
SARS-CoV-2 Severe acute respiratory syndrome coronavirus 2
scRNA-seq Single-cell RNA-seq
SRA Sequence Read Archive
T1D TCR/BCR Repository The Type 1 Diabetes T Cell Receptor and B Cell Receptor Repository
TCR T cell receptor
TCRβ T cell receptor β chain
Tfh T follicular helper
Treg Regulatory T cell(s)
VDJ Variable, diversity and joining gene segments
Stephanie J. Hanna and Rachel H. Bonami contributed equally to this work. Aaron W. Michels and Todd M. Brusko contributed equally as joint senior authors.
Members of the Type 1 Diabetes AIRR Consortium are listed in the Acknowledgements.
Marco Marigliano1,11*† , Roberto Franceschi2†, Enza Mozzillo3†, Valentina Tiberi4†, Monica Marino4 , Giada Boccolini4 , Malgorzata Wasniewska5 , Maria Elizabeth Street6 , Maria Rosaria Licenziati7 , Riccardo Bonfanti8 , Felice Citriniti9 , Giuseppe D’Annunzio10, Maria Carolina Salerno3 , Valentino Cherubini4 and the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
† Marco Marigliano, Roberto Franceschi, Enza Mozzillo and Valentina Tiberi contributed equally to this work.
Backgrounds The incidence of Type 1 Diabetes (T1D) in children and adolescents is increasing by 3–4% per year. Children and adolescents with T1D (CwD) should receive person-centered, specialized treatment from a multidisciplinary team to ensure appropriate care. Italy is the first to implement a countrywide T1D screening program, which will raise the need for funding for specialized pediatric care. The study aims to update the organization of the Italian Centers for pediatric diabetes care.
Methods In 2022, members of the 59 Italian Centers following CwD were invited to complete an email survey regarding the Centers’ organization, characteristics, and activities. The questionnaire included information on responders, department organization, team composition, activities, and the organizational structures: department, ambulatory care services (AC), simple operational units (UOS), simple departmental operational units (UOSd), and complex operational units (UOC).
Results The data collected referred to the year 2022. According to the results, 21,318 people with diabetes were treated. Of these, 19,643 subjects (92.1%) have T1D (16,672 were CwD), 387 (1,8%) have Type 2 Diabetes, and 1,288 (6,1%) have other forms of diabetes. Compared to the 2012 survey, a 13% decrease (from 68 to 59 Centers) in the number of pediatric Centers caring for CwD was observed with a parallel increase of total (+6.6%) and average (+22%) number of CwD per Center. The estimated prevalence of T1D has increased (1.4 vs. 1.7 per 1,000 CwD—2012 vs. 2022). A reduction in numbers for AC (-22%) and UOS (-35%) was observed, whereas UOSd/UOC increased by 50%. Almost 35% of the dietitians and 40% of the psychologists were not permanent members of the multidisciplinary diabetes team.
Conclusions The observed decrease in the overall number of pediatric diabetes Centers, the reduction in specialized and dedicated HCPs, and the concurrent increase in the number of treated CwD in the last ten years indicate an alarming situation for pediatric diabetes treatment in Italy. Furthermore, the projected rise in CwD due to the National T1D screening program emphasizes the need for increased resources for specialized pediatric care of CwD at all stages.
Keywords Type 1 diabetes, Care, Children, Adolescents, Benchmarking, Team, Screening, Technology
创伤是指由于各种致伤因素导致的机体软组织、骨骼甚至内脏器官等等各个系统的损伤,创伤可以根据发生地点、受伤部位、受伤组织、致伤因素及皮肤完整程度进行分类。 按发生地点分为战争伤、工业伤、农业伤、交通伤、体育伤、生活伤等;按受伤部位分为颅脑创伤、胸部创伤、腹部创伤、各部位的骨折和关节脱位、手部伤等;按受伤类型分为骨折、脱位、脑震荡、器官破裂等;相邻部位同时受伤者称为联合伤(如胸腹联合伤);按受伤的组织或器官分类时,又可按受伤组织的深浅分为软组织创伤、骨关节创伤和内脏创伤。软组织创伤指皮肤、皮下组织和肌肉的损伤,也包括行于其中的血管和神经。单纯的软组织创伤一般较轻,但广泛的挤压伤可致挤压综合征。血管破裂大出血亦可致命。骨关节创伤包括骨折和脱位,并按受伤的骨或关节进一步分类并命名。如股骨骨折、肩关节脱位等。内脏创伤又可按受伤的具体内脏进行分类和命名。如脑挫裂伤、肺挫伤、肝破裂等。同一致伤原因引起两个以上部位或器官的创伤,称为多处伤或多发伤。按致伤因素,分为火器伤、切伤、刺伤、撕裂伤、挤压伤、扭伤、挫伤等。按皮肤完整程度,分为闭合性创伤、开放性创伤等。
伤口世界平台生态圈,以“关爱人间所有伤口患者”为愿景,连接、整合和拓展线上和线下的管理慢性伤口的资源,倡导远程、就近和居家管理慢性伤口,解决伤口专家的碎片化时间的价值创造、诊疗经验的裂变复制、和患者的就近、居家和低成本管理慢性伤口的问题。
2019广东省医疗行业协会伤口管理分会年会
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