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Tabla de contenido
  1. 1. Klinische Studie
  2. 2. Routinedokumentation
  3. 3. Register-/Kohortenstudien
  4. 4. Qualitätssicherung
  5. 5. Datenstandard
  6. 6. Patientenfragebogen
  7. 7. Medizinische Fachrichtung
    1. 7.1. Anästhesie
    1. 7.2. Dermatologie
    1. 7.3. HNO
    1. 7.4. Geriatrie
    1. 7.5. Gynäkologie/Geburtshilfe
    1. 7.6. Innere Medizin
      1. Hämatologie
      1. Infektiologie
      1. Kardiologie/Angiologie
      1. Pneumologie
      1. Gastroenterologie
      1. Nephrologie
      1. Endokrinologie/Stoffwechsel
      1. Rheumatologie
    1. 7.7. Neurologie
    1. 7.8. Augenheilkunde
    1. 7.9. Palliativmedizin
    1. 7.10. Pathologie/Rechtsmedizin
    1. 7.11. Kinderheilkunde
    1. 7.12. Psychiatrie/Psychosomatik
    1. 7.13. Radiologie
    1. 7.14. Chirurgie
      1. Allgemein-/Viszeralchirurgie
      1. Neurochirurgie
      1. Plastische Chirurgie
      1. Herz-/Thoraxchirurgie
      1. Unfallchirurgie/Orthopädie
      1. Gefäßchirurgie
    1. 7.15. Urologie
    1. 7.16. Zahnmedizin/MKG
Modelos de datos seleccionados

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- 21.11.18 - 1 formulario, 11 itemgroups, 34 items, 1 idioma
Itemgroups: Medical Conditions - Cardiac Disorders, Medical Conditions - Endocrine Disorders, Medical Conditions - Eye Disorders, Medical Conditions - Vascular Disorders, Medical Conditions - Metabolism and Nutrition Disorders, Medical Conditions - Infections and Infestations, Family History, Disease Duration, Vital Signs, Candidiasis Examination, Electronically transferred lab data
- 02.10.23 - 6 formularios, 1 itemgroup, 33 items, 1 idioma
Itemgroup: IG.elig
Principal Investigator: John B. Harley, MD (Cytogenetics-Obesity, FSR, DSR, CLRR), National Institutes of Health, Bethesda, MD, USA MeSH: NA,Arthritis, Juvenile,Child Development Disorders, Pervasive,Cholangitis, Sclerosing,Developmental Disabilities,Eosinophilic Esophagitis,Hernia, Diaphragmatic,Infection,Lupus Erythematosus, Systemic,Neutropenia,Pediatric Obesity,Polymicrogyria,Rheumatic Diseases,Staphylococcus aureus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001011 This submission includes genotyping or sequencing data from separate cohorts, each is described in separate paragraphs below. **Extreme early onset obesity** Obesity is a serious epidemic condition and on the rise in the United States. Today, nearly one out of three children is overweight or obese in this country. According to the Center for Disease Control, 35.7% of American adults and 17% of American children are obese. The medical costs associated with obesity are estimated to be in the billions. Without a doubt, interplay of additive genetic effects and common environmental effects influence this complex disease. However, despite being exposed to so-called "obesogenic environment", a large proportion of the population remains of normal weight. These observations suggest that innate, non-environmental, factors make some individuals more susceptible to obesity providing support for biological mechanisms, and thus genetic factors, to underlie the individual's response to the obesogenic environment. In young children with severe obesity the relative role of genetics and in utero programming are likely to outweigh the short duration of environmental and lifestyle exposures. This group is therefore an ideal one to study as they are likely enriched for variants that influence the risk of developing obesity. The purpose of this project is to further study and understand obesity in childhood and to develop a repository of samples for future studies into obesity. **Eosinophilic Esophagitis (EoE)** Eosinophilic Esophagitis (EoE) is one of the manifestations of eosinophilic gastrointestinal inflammation which have profound effects on a patient's health and development. Results of epidemiologic studies performed through our center demonstrate that eosinophil-associated gastrointestinal disease is not an uncommon entity. While the epidemiology of eosinophilic esophagitis has not been thoroughly studied until recently, there appears to be a significant increase in the diagnosis of EoE in the last decade. Based on our research, this mainly reflects increased disease recognition, but there is also a bona-fide increase in disease incidence which coincides with the increasing incidence of asthma and allergic diseases in the industrialized world. In addition, many patients with intractable symptoms thought in the past to represent atypical GERD or other disorders are now being recognized as having EoE. Diagnosis of EoE requires endoscopy and biopsies to document the characteristic histologic findings of esophageal eosinophilia. In general, this study proposed to elucidate the mechanisms underlying eosinophil growth, survival, migration, and function, and to investigate and further characterize the pathophysiology of, clinical manifestations of, and spectrum of disease severity of eosinophilic esophagitis in humans. The de-identified genotyping and genome wide association data generated as part of this research will be used for further genome research. **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)** *De novo* mutations could cause many diseases, which has been demonstrated in mental retardation, autism and many rare genetic disorders. Family-based studies have a variety of advantages over case/control studies, including the elimination of analysis artifacts related to population stratification, the detection of genes that act through a recessive mechanism of inheritance and validation that the trait is not transmitted from a parent, something not possible using a case/control design. Additionally, DNA from families can be used to identify *de novo* mutations suggesting strong candidate causal polymorphisms. For this project, samples will be collected from families on an on-going basis. Families may be recruited because the patient either has a disease which is thought to be of genetic origin or from the general patient population to serve as controls or future identified diseases. Some phenotypes under study include fibroblastic rheumatism, diaphragmatic hernia, polymicrogyria, severe congenital neutropenia, primary sclerosing cholangitis and staph infection. **CLRR-Cincinnati Lupus Registry and Repository** Systemic lupus erythematosus (SLE) is a complex, partially understood autoimmune disorder. Genetic origins for SLE are supported by high heritability ( 66%), familial aggregation, increased monozygotic twin concordance, genetic linkages, and candidate gene genetic association, including HLA genes, Fc receptors, and complement components. Relevant environmental factors likely include infections (Epstein-Barr virus), therapeutics, personal habits (smoking), and diet. To continue a research resource facility for collection of well-characterized pedigrees containing a proband with systemic lupus erythematosus we develop this repository. **Juvenile Idiopathic Arthritis (JIA)** Juvenile Idiopathic Arthritis (JIA) is a debilitating complex genetic disorder characterized by inflammation of the joints and other tissues and shares histopathological features with other autoimmune diseases. It is considered complex genetic traits. There are more than 50,000 children with JIA in the USA, approximately 1 per 1000 births, which is about the same incidence as juvenile diabetes. It is believed that genes in the major histocompatibility complex (MHC) play a role in defining genetic risk, and it can be hypothesized that loci in other chromosomal regions are involved in conferring risk in JIA. These candidate chromosomal regions can be identified using genome-wide association analyses. The long-term goal is a comprehensive understanding of the genetic basis of these disabling arthropathies for which the molecular basis is not presently understood. These data will contribute to a national resource for the study of autoimmunity in children. **Better Outcomes for Children-Cytogenetics** Since 2007, more than 4000 samples, enriched with various rare or common genetic diseases as well as specific chromosomal abnormalities such as deletions and duplications have been genotyped for the purpose of subsequent GWAS and Phewas analyses and uncovering main genetic effects.

pht005529.v1.p1

1 itemgroup 6 items

pht005530.v1.p1

1 itemgroup 5 items

pht005531.v1.p1

1 itemgroup 4 items

pht005532.v1.p1

1 itemgroup 7 items

pht005533.v1.p1

1 itemgroup 4 items
- 24.07.16 - 1 formulario, 14 itemgroups, 26 items, 1 idioma
Itemgroups: Person 1, Person (name), Person 2, Person (address), Address 1, Person 3, Address 2, Episode of admitted patient care, Establishment 1, Person 4, Laboratory, Patient episode of Staphylococcus aureus bacteraemia, Methicillin-resistant Staphylococcus aureus isolate, Establishment 2
Health sector data set specifications from METeOR, Australia's repository for national metadata standards, developed by the Australian Institute of Health and Welfare (http://meteor.aihw.gov.au/content/index.phtml/itemId/345165) Surveillance of healthcare associated infection: Staphylococcus aureus bacteraemia DSS The purpose of this data set specification (DSS) is to support a comprehensive surveillance program of healthcare associated infections (HAI). HAIs are those infections that are not present or incubating at the time of admission to a healthcare program or facility, develop within a healthcare organisation or are produced by micro-organisms acquired during admission. This DSS is intended to support Staphylococcus aureus bacteraemia (SAB) surveillance in Australian hospitals. It is designed for the purposes of HAI surveillance, not diagnosis. The value of surveillance as part of a hospital infection control program is supported by high-grade international and national evidence. This DSS supports development of local forms and systems for surveillance of HAIs and associated data collection. This DSS applies to patient episodes of SAB in Australian hospitals. Case Definition – Healthcare associated Staphylococcus aureus bacteraemia (SAB) A patient-episode of Staphylococcus aureus bacteraemia (SAB) is a positive blood culture for Staphylococcus aureus. For surveillance purposes, only the first isolate per patient is counted, unless at least 14 days has passed without a positive culture, after which an additional episode is recorded. A SAB will be considered to be a healthcare-associated event if: EITHER • CRITERION A. The patient’s first SAB positive blood culture was collected more than 48 hours after hospital admission or less than 48 hours after discharge. OR • CRITERION B. The patient’s first positive SAB blood culture was collected less than or equal to 48 hours after hospital admission and one or more of the following key clinical criteria was met for the patient-episode of SAB: 1. SAB is a complication of the presence of an indwelling medical device (e.g. intravascular line, haemodialysis vascular access, CSF shunt, urinary catheter) 2. SAB occurs within 30 days of a surgical procedure where the SAB is related to the surgical site 3. SAB was diagnosed within 48 hours of a related invasive instrumentation or incision 4. SAB is associated with neutropenia (Neutrophils: less than 1 x 109/L) contributed to by cytotoxic therapy In order for jurisdictions and private hospital ownership groups to accurately report and monitor Healthcare Associated Infections, the data elements listed should be collected at hospital level for each patient-episode of Staphylococcus aureus bacteraemia. HAI patient episode data elements for SAB, by short name Data elements to be collected for each patient episode Data elements used for calculation of SAB rates Person identifier Patient days Family name Patient episodes of healthcare associated SAB Given name(s) Indigenous status Date of birth Sex Address line (person) Suburb/town/locality name (person) Australian state/territory identifier Australian postcode (address) Admission date Separation date Ward/clinical area Specimen collection date Specimen collection time Laboratory number Specimen identifier Laboratory result identifier Healthcare associated SAB clinical criteria Staphylococcus aureus bacteraemia status SAB methicillin susceptibility Antibiotic susceptibility (MRSA isolate) Antibiotic susceptibility indicator (MRSA isolate) Establishment number © Australian Institute of Health and Welfare 2015 Metadata and Classifications Unit Australian Institute of Health and Welfare GPO Box 570 Canberra ACT 2601

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