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- 2024-10-26 - 11 Formulär, 1 Item-grupp, 9 Dataelement, 2 Språk
Item-grupp: t0.saq_eingabe_assi

t0.ble_phq

1 Item-grupp 18 Dataelement

t0.ble_vertreibung

1 Item-grupp 1 Dataelement

t0.saq_beschwer

1 Item-grupp 41 Dataelement

t0.saq_health

1 Item-grupp 13 Dataelement

t0.saq_qol

1 Item-grupp 50 Dataelement

t0.ble_tas

1 Item-grupp 20 Dataelement
- 2023-06-23 - 6 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: pht005344
Principal Investigator: Steven Finkbeiner, Gladstone Institutes, San Francesco, CA, USA MeSH: Huntington Disease,Degenerative Hereditary Diseases, Nervous System,Cell Death,Brain Diseases,Ataxia,Chorea,Cognition Disorders,Dyskinesias,Mental Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001071 The goal of our studies is to identify genetic modifiers of neurodegeneration in Huntington's disease (HD). HD is caused by expansion of CAG repeats in the huntingtin (Htt) gene, with longer stretches often leading to more rapid disease onset and progression. Yet, for a given number of repeats, the age of symptom onset can be variable, differing by up to decades. Thus, the age of onset of motor symptoms in HD is only partly explained by the length of the CAG expansion. Available evidence suggests that genetic modifiers contribute to the variation in HD onset. Identifying genetic modifiers is important because they may provide critical insights into HD pathogenesis and reveal key pathways that could be targeted by novel HD therapeutics. This is important since there are no disease-modifying therapies for HD, and mHtt is an unattractive small-molecule drug target. We recruited 21 HD families with varying characteristics of disease progression and age of onset and obtained medical histories, clinical records and DNA samples that were subjected to whole-genome sequencing (WGS). These WGS data describe families of 104 subjects, including HD patients and their unaffected family members. These individuals were selected based on individual clinical histories and family structures that best fit our criteria for expressing potential genetic modifiers. We are testing the hypothesis that novel, rare genetic variants contribute to HD and those genetic modifiers can be identified by WGS.

pht005345.v1.p1

1 Item-grupp 5 Dataelement

pht005346.v1.p1

1 Item-grupp 3 Dataelement

pht005347.v1.p1

1 Item-grupp 8 Dataelement

pht005348.v1.p1

1 Item-grupp 4 Dataelement

Eligibility

1 Item-grupp 6 Dataelement
- 2022-12-13 - 5 Formulär, 1 Item-grupp, 7 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

pht002864.v1.p1

1 Item-grupp 4 Dataelement

pht002865.v1.p1

1 Item-grupp 5 Dataelement

pht002866.v1.p1

1 Item-grupp 42 Dataelement

pht002867.v1.p1

1 Item-grupp 4 Dataelement
- 2017-11-07 - 1 Formulär, 17 Item-grupper, 35 Dataelement, 2 Språk
Item-grupper: Patient demographics, Physical therapy, Psychotherapy, Psychotherapeutic approach, Further therapeutic treatment, Discharge Medications - Somatic indication, Discharge Medications - psychiatric indication, ECG, Patient weight, Problems during psychotherapy, Further therapeutic treatment, Follow-up care, Out-patient follow-up care / follow-up treatment, Psychiatric discharge diagnosis, Somatic discharge diagnosis, Clinical Global Impression (Degrees of severity), Clinical Global Impression Scale of Change (CGI-C)
- 2017-11-07 - 1 Formulär, 17 Item-grupper, 35 Dataelement, 2 Språk
Item-grupper: Patient demographics, Physical therapy, Psychotherapy, Psychotherapeutic approach, Further therapeutic treatment, Discharge Medications - Somatic indication, Discharge Medications - psychiatric indication, ECG, Patient weight, Problems during psychotherapy, Further therapeutic treatment, Follow-up care, Out-patient follow-up care / follow-up treatment, Psychiatric discharge diagnosis, Somatic discharge diagnosis, Clinical Global Impression (Degrees of severity), Clinical Global Impression Scale of Change (CGI-C)

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