ID

44941

Description

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018.v2.p1 Genetics of Kidneys in Diabetes (GoKinD) study is an initiative aimed at identifying susceptibility genes for diabetic nephropathy in type 1 diabetes. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents were also enrolled to form family trios. Altogether, GoKinD includes 3043 participants comprising 931 cases, 944 singletons, 268 pairs of parents of cases, and 316 pairs of parents of control. Accessible as a GAIN database are 905 of the cases, 890 of the controls, 10 pairs of parents of cases and 10 pairs of parents of controls. The other parents and the remaining cases and controls are available by a separate application process through NIDDK (dbGaP phs000088 *Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK*). Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at Juvenile Diabetes Research Foundation. *Consent groups and participant set* - Diabetic complications only (DCO): 1825 (904 cases, 881 controls, 40 others)

Lien

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018.v2.p1

Mots-clés

  1. 12/05/2022 12/05/2022 - Martin Dugas
  2. 12/05/2022 12/05/2022 - Martin Dugas
  3. 20/05/2022 20/05/2022 - Dr. Christian Niklas
  4. 03/06/2022 03/06/2022 - Dr. Christian Niklas
  5. 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits

J.H. Warram, Joslin Diabetes Center, Boston, MA, USA

Téléchargé le

12 mai 2022

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY-NC 4.0

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dbGaP phs000018 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN

This table contains diagnostic phenotype information about renal function status, and medical history related to diabetes (e.g. status, treatment and duration) and diabetes related complications, plus general socio-demographic information (see also Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK ).

pht000062.v1.p1
Description

pht000062.v1.p1

External patient ID (masked family ID) - See also NIDDK - GoKinD phs000088: EXTIDPAT
Description

EXTIDPAT

Type de données

text

Accession number barcode - See also NIDDK - GoKinD phs000088: X_BARCOD
Description

X_BARCOD

Type de données

text

Current eligibility family - See also NIDDK - GoKinD phs000088: CURRELIG
Description

CURRELIG

Type de données

text

Current trio family - See also NIDDK - GoKinD phs000088: CURRTRIO
Description

CURRTRIO

Type de données

text

T_FAMID2 masked, external family ID - See also NIDDK - GoKinD phs000088: T_FAMID2
Description

T_FAMID2

Type de données

text

SITEJORG Joslin or GW or qc (j, g, q) - See also NIDDK - GoKinD phs000088: SITEJORG
Description

SITEJORG

Type de données

text

T_N_KID # proband/sib records/family - See also NIDDK - GoKinD phs000088: T_N_KID
Description

T_N_KID

Type de données

text

X_ID_REL ID relative - See also NIDDK - GoKinD phs000088: X_ID_REL
Description

X_ID_REL

Type de données

text

Proband or sibling (Y/N) - See also NIDDK - GoKinD phs000088: PROBAND
Description

PROBAND

Type de données

text

RASS proband (Y/N) - See also NIDDK - GoKinD phs000088: X_RASSPR
Description

X_RASSPR

Type de données

text

Participant's gender - See also NIDDK - GoKinD phs000088: SEX
Description

SEX

Type de données

text

Age at entry (years) - See also NIDDK - GoKinD phs000088: AGE
Description

AGE

Type de données

text

Predominant race/ethnicity - See also NIDDK - GoKinD phs000088: RACE
Description

RACE

Type de données

text

Eligibility/trio status - See also NIDDK - GoKinD phs000088: ELIGTRIO
Description

ELIGTRIO

Type de données

text

Renal function status - See also NIDDK - GoKinD phs000088: RENALST
Description

RENALST

Type de données

text

End-stage renal disease (Y/N/U) - See also NIDDK - GoKinD phs000088: ESRD
Description

ESRD

Type de données

text

Did proband have a pancreas transplant? (Y/N/U) - See also NIDDK - GoKinD phs000088: PANCR
Description

PANCR

Type de données

text

Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 1st urine sample - See also NIDDK - GoKinD phs000088: ACR1
Description

ACR1

Type de données

text

Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 2nd urine sample - See also NIDDK - GoKinD phs000088: ACR2
Description

ACR2

Type de données

text

Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 3rd urine sample - See also NIDDK - GoKinD phs000088: ACR3
Description

ACR3

Type de données

text

Abnormal creatinine (Y/N/U) - See also NIDDK - GoKinD phs000088: ABCREATN
Description

ABCREATN

Type de données

text

Serum creatinine (mg/dL) - See also NIDDK - GoKinD phs000088: CREATN
Description

CREATN

Type de données

text

Serum cystatin (mg/L) - See also NIDDK - GoKinD phs000088: CYSTATIN
Description

CYSTATIN

Type de données

text

Serum lipid cholesterol (mg/dL) - See also NIDDK - GoKinD phs000088: CHOLSTR
Description

CHOLSTR

Type de données

text

Serum lipid HDL (mg/dL) - See also NIDDK - GoKinD phs000088: HDL
Description

HDL

Type de données

text

Hemoglobin A1c (HbA1c; %) - See also NIDDK - GoKinD phs000088: HBA1C
Description

HBA1C

Type de données

text

Glomerular filtration rate 1 (GFR1; MDRD [Modification of Diet in Renal Disease, - See Levey et al., 1999, PMID: 10075613] ) - See also NIDDK - GoKinD phs000088: GFR1
Description

GFR1

Type de données

text

Glomerular filtration rate 2 (GFR2; Cockcroft-Gault; ml/min) - See also NIDDK - GoKinD phs000088: GFR2
Description

GFR2

Type de données

text

Glomerular filtration rate 3 (GFR3; 1/Serum Creatinine; dL/mg) - See also NIDDK - GoKinD phs000088: GFR3
Description

GFR3

Type de données

text

Body Mass Index (kg/m²) - See also NIDDK - GoKinD phs000088: BMI
Description

BMI

Type de données

text

Natural waist circumference (cm) - See also NIDDK - GoKinD phs000088: WAIST
Description

WAIST

Type de données

text

Is proband a current smoker? (Y/N/U) - See also NIDDK - GoKinD phs000088: CURRSMK
Description

CURRSMK

Type de données

text

Has proband ever smoked? (Y/N/U) - See also NIDDK - GoKinD phs000088: EVERSMK
Description

EVERSMK

Type de données

text

Is proband diabetic? (Y/N/U) - See also NIDDK - GoKinD phs000088: DIABETES
Description

DIABETES

Type de données

text

Is proband diabetic? If yes, has he/she been diagnosed with type 1 or type 2 diabetes? - See also NIDDK - GoKinD phs000088: T1T2DIA
Description

T1T2DIA

Type de données

text

Is proband taking insulin? (Y/N/U) - See also NIDDK - GoKinD phs000088: INSULIN
Description

INSULIN

Type de données

text

Is proband taking insulin? If yes, what is the insulin regimen? - See also NIDDK - GoKinD phs000088: INSREGMN
Description

INSREGMN

Type de données

text

Is proband taking insulin? If yes, what is the insulin dosage per kg body weight? - See also NIDDK - GoKinD phs000088: INSDOSG
Description

INSDOSG

Type de données

text

Is proband diabetic? If yes, since how long? (years) - See also NIDDK - GoKinD phs000088: DIABDUR
Description

DIABDUR

Type de données

text

Is proband taking angiotensin converting enzyme (ACE) inhibitors? (Y/N/U) - See also NIDDK - GoKinD phs000088: ACE
Description

ACE

Type de données

text

Is proband taking anti-hypertensive drugs? (Y/N/U) - See also NIDDK - GoKinD phs000088: ANTH
Description

ANTH

Type de données

text

Is proband taking lipid lowering medication? (Y/N/U) - See also NIDDK - GoKinD phs000088: LIP
Description

LIP

Type de données

text

Systolic blood pressure (mmHg) - See also NIDDK - GoKinD phs000088: SYSBP
Description

SYSBP

Type de données

text

Diastolic blood pressure (mmHg) - See also NIDDK - GoKinD phs000088: DIABP
Description

DIABP

Type de données

text

Does proband have a history of hypertension? (Y/N/U) - See also NIDDK - GoKinD phs000088: HYPERTEN
Description

HYPERTEN

Type de données

text

Does proband have a history of cardiovascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: CARDIOV
Description

CARDIOV

Type de données

text

Does proband have a history of peripheral vascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: PERIPHV
Description

PERIPHV

Type de données

text

Does proband have a history of gangrene? (Y/N/U) - See also NIDDK - GoKinD phs000088: GANGREN
Description

GANGREN

Type de données

text

Does proband have a history of non-traumatic amputation? (Y/N/U) - See also NIDDK - GoKinD phs000088: AMPUTATN
Description

AMPUTATN

Type de données

text

Does proband have a history of neuropathy due to diabetes? (Y/N/U) - See also NIDDK - GoKinD phs000088: NEURP
Description

NEURP

Type de données

text

Does proband have a history of focal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: FLASER
Description

FLASER

Type de données

text

Does proband have a history of pan-retinal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: PLASER
Description

PLASER

Type de données

text

Does proband have a history of auto-immune disease? - See also NIDDK - GoKinD phs000088: AUTOIMMU
Description

AUTOIMMU

Type de données

text

Time between diagnosis of type 1 diabetes (T1D) and kidney complications (years) - See also NIDDK - GoKinD phs000088: TIMEEVNT
Description

TIMEEVNT

Type de données

text

Similar models

This table contains diagnostic phenotype information about renal function status, and medical history related to diabetes (e.g. status, treatment and duration) and diabetes related complications, plus general socio-demographic information (see also Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK ).

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht000062.v1.p1
EXTIDPAT
Item
External patient ID (masked family ID) - See also NIDDK - GoKinD phs000088: EXTIDPAT
text
X_BARCOD
Item
Accession number barcode - See also NIDDK - GoKinD phs000088: X_BARCOD
text
Item
Current eligibility family - See also NIDDK - GoKinD phs000088: CURRELIG
text
Code List
Current eligibility family - See also NIDDK - GoKinD phs000088: CURRELIG
CL Item
Control (0)
CL Item
Case (1)
Item
Current trio family - See also NIDDK - GoKinD phs000088: CURRTRIO
text
Code List
Current trio family - See also NIDDK - GoKinD phs000088: CURRTRIO
CL Item
Singleton (1)
CL Item
Trio (2)
T_FAMID2
Item
T_FAMID2 masked, external family ID - See also NIDDK - GoKinD phs000088: T_FAMID2
text
Item
SITEJORG Joslin or GW or qc (j, g, q) - See also NIDDK - GoKinD phs000088: SITEJORG
text
Code List
SITEJORG Joslin or GW or qc (j, g, q) - See also NIDDK - GoKinD phs000088: SITEJORG
CL Item
George-Washington University (g)
CL Item
Joslin Diabetes Center (j)
CL Item
Quality Control (q)
Item
T_N_KID # proband/sib records/family - See also NIDDK - GoKinD phs000088: T_N_KID
text
Code List
T_N_KID # proband/sib records/family - See also NIDDK - GoKinD phs000088: T_N_KID
CL Item
1 child in study (1)
CL Item
2 children in study (2)
Item
X_ID_REL ID relative - See also NIDDK - GoKinD phs000088: X_ID_REL
text
Code List
X_ID_REL ID relative - See also NIDDK - GoKinD phs000088: X_ID_REL
CL Item
Father (1)
CL Item
Mother (2)
CL Item
Proband (3)
CL Item
Sibling (4)
Item
Proband or sibling (Y/N) - See also NIDDK - GoKinD phs000088: PROBAND
text
Code List
Proband or sibling (Y/N) - See also NIDDK - GoKinD phs000088: PROBAND
CL Item
No (0)
CL Item
Yes (1)
Item
RASS proband (Y/N) - See also NIDDK - GoKinD phs000088: X_RASSPR
text
Code List
RASS proband (Y/N) - See also NIDDK - GoKinD phs000088: X_RASSPR
CL Item
No (0)
CL Item
Yes (1)
Item
Participant's gender - See also NIDDK - GoKinD phs000088: SEX
text
Code List
Participant's gender - See also NIDDK - GoKinD phs000088: SEX
CL Item
Male (1)
CL Item
Female (2)
AGE
Item
Age at entry (years) - See also NIDDK - GoKinD phs000088: AGE
text
Item
Predominant race/ethnicity - See also NIDDK - GoKinD phs000088: RACE
text
Code List
Predominant race/ethnicity - See also NIDDK - GoKinD phs000088: RACE
CL Item
White, not of Hispanic origin (1)
CL Item
Black, not of Hispanic origin (2)
CL Item
Hispanic (3)
CL Item
Asian or Pacific Islander (4)
CL Item
American Indian or Alaskan Native American (5)
CL Item
Other or unknown (6)
ELIGTRIO
Item
Eligibility/trio status - See also NIDDK - GoKinD phs000088: ELIGTRIO
text
Item
Renal function status - See also NIDDK - GoKinD phs000088: RENALST
text
Code List
Renal function status - See also NIDDK - GoKinD phs000088: RENALST
CL Item
Microalbuminuric (0)
CL Item
Control (1)
CL Item
Proteinuric (2)
CL Item
Dialysis (3)
CL Item
Transplant (4)
Item
End-stage renal disease (Y/N/U) - See also NIDDK - GoKinD phs000088: ESRD
text
Code List
End-stage renal disease (Y/N/U) - See also NIDDK - GoKinD phs000088: ESRD
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Did proband have a pancreas transplant? (Y/N/U) - See also NIDDK - GoKinD phs000088: PANCR
text
Code List
Did proband have a pancreas transplant? (Y/N/U) - See also NIDDK - GoKinD phs000088: PANCR
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
ACR1
Item
Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 1st urine sample - See also NIDDK - GoKinD phs000088: ACR1
text
ACR2
Item
Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 2nd urine sample - See also NIDDK - GoKinD phs000088: ACR2
text
ACR3
Item
Albumin-creatinine ratio (ACR)/Albumin-excretion rate (AER), 3rd urine sample - See also NIDDK - GoKinD phs000088: ACR3
text
Item
Abnormal creatinine (Y/N/U) - See also NIDDK - GoKinD phs000088: ABCREATN
text
Code List
Abnormal creatinine (Y/N/U) - See also NIDDK - GoKinD phs000088: ABCREATN
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
CREATN
Item
Serum creatinine (mg/dL) - See also NIDDK - GoKinD phs000088: CREATN
text
CYSTATIN
Item
Serum cystatin (mg/L) - See also NIDDK - GoKinD phs000088: CYSTATIN
text
CHOLSTR
Item
Serum lipid cholesterol (mg/dL) - See also NIDDK - GoKinD phs000088: CHOLSTR
text
HDL
Item
Serum lipid HDL (mg/dL) - See also NIDDK - GoKinD phs000088: HDL
text
HBA1C
Item
Hemoglobin A1c (HbA1c; %) - See also NIDDK - GoKinD phs000088: HBA1C
text
GFR1
Item
Glomerular filtration rate 1 (GFR1; MDRD [Modification of Diet in Renal Disease, - See Levey et al., 1999, PMID: 10075613] ) - See also NIDDK - GoKinD phs000088: GFR1
text
GFR2
Item
Glomerular filtration rate 2 (GFR2; Cockcroft-Gault; ml/min) - See also NIDDK - GoKinD phs000088: GFR2
text
GFR3
Item
Glomerular filtration rate 3 (GFR3; 1/Serum Creatinine; dL/mg) - See also NIDDK - GoKinD phs000088: GFR3
text
BMI
Item
Body Mass Index (kg/m²) - See also NIDDK - GoKinD phs000088: BMI
text
WAIST
Item
Natural waist circumference (cm) - See also NIDDK - GoKinD phs000088: WAIST
text
Item
Is proband a current smoker? (Y/N/U) - See also NIDDK - GoKinD phs000088: CURRSMK
text
Code List
Is proband a current smoker? (Y/N/U) - See also NIDDK - GoKinD phs000088: CURRSMK
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Has proband ever smoked? (Y/N/U) - See also NIDDK - GoKinD phs000088: EVERSMK
text
Code List
Has proband ever smoked? (Y/N/U) - See also NIDDK - GoKinD phs000088: EVERSMK
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Is proband diabetic? (Y/N/U) - See also NIDDK - GoKinD phs000088: DIABETES
text
Code List
Is proband diabetic? (Y/N/U) - See also NIDDK - GoKinD phs000088: DIABETES
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Is proband diabetic? If yes, has he/she been diagnosed with type 1 or type 2 diabetes? - See also NIDDK - GoKinD phs000088: T1T2DIA
text
Code List
Is proband diabetic? If yes, has he/she been diagnosed with type 1 or type 2 diabetes? - See also NIDDK - GoKinD phs000088: T1T2DIA
CL Item
Unknown (0)
CL Item
Type 1 Diabetes (1)
CL Item
Type 2 Diabetes (2)
CL Item
Diabetes, Type Unknown (3)
Item
Is proband taking insulin? (Y/N/U) - See also NIDDK - GoKinD phs000088: INSULIN
text
Code List
Is proband taking insulin? (Y/N/U) - See also NIDDK - GoKinD phs000088: INSULIN
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Is proband taking insulin? If yes, what is the insulin regimen? - See also NIDDK - GoKinD phs000088: INSREGMN
text
Code List
Is proband taking insulin? If yes, what is the insulin regimen? - See also NIDDK - GoKinD phs000088: INSREGMN
CL Item
< 2 shots (1)
CL Item
MDI (Multiple Daily Injections) (2)
CL Item
Pump (3)
CL Item
Other (4)
INSDOSG
Item
Is proband taking insulin? If yes, what is the insulin dosage per kg body weight? - See also NIDDK - GoKinD phs000088: INSDOSG
text
DIABDUR
Item
Is proband diabetic? If yes, since how long? (years) - See also NIDDK - GoKinD phs000088: DIABDUR
text
Item
Is proband taking angiotensin converting enzyme (ACE) inhibitors? (Y/N/U) - See also NIDDK - GoKinD phs000088: ACE
text
Code List
Is proband taking angiotensin converting enzyme (ACE) inhibitors? (Y/N/U) - See also NIDDK - GoKinD phs000088: ACE
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Is proband taking anti-hypertensive drugs? (Y/N/U) - See also NIDDK - GoKinD phs000088: ANTH
text
Code List
Is proband taking anti-hypertensive drugs? (Y/N/U) - See also NIDDK - GoKinD phs000088: ANTH
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Is proband taking lipid lowering medication? (Y/N/U) - See also NIDDK - GoKinD phs000088: LIP
text
Code List
Is proband taking lipid lowering medication? (Y/N/U) - See also NIDDK - GoKinD phs000088: LIP
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
SYSBP
Item
Systolic blood pressure (mmHg) - See also NIDDK - GoKinD phs000088: SYSBP
text
DIABP
Item
Diastolic blood pressure (mmHg) - See also NIDDK - GoKinD phs000088: DIABP
text
Item
Does proband have a history of hypertension? (Y/N/U) - See also NIDDK - GoKinD phs000088: HYPERTEN
text
Code List
Does proband have a history of hypertension? (Y/N/U) - See also NIDDK - GoKinD phs000088: HYPERTEN
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of cardiovascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: CARDIOV
text
Code List
Does proband have a history of cardiovascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: CARDIOV
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of peripheral vascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: PERIPHV
text
Code List
Does proband have a history of peripheral vascular complication(s)? (Y/N/U) - See also NIDDK - GoKinD phs000088: PERIPHV
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of gangrene? (Y/N/U) - See also NIDDK - GoKinD phs000088: GANGREN
text
Code List
Does proband have a history of gangrene? (Y/N/U) - See also NIDDK - GoKinD phs000088: GANGREN
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of non-traumatic amputation? (Y/N/U) - See also NIDDK - GoKinD phs000088: AMPUTATN
text
Code List
Does proband have a history of non-traumatic amputation? (Y/N/U) - See also NIDDK - GoKinD phs000088: AMPUTATN
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of neuropathy due to diabetes? (Y/N/U) - See also NIDDK - GoKinD phs000088: NEURP
text
Code List
Does proband have a history of neuropathy due to diabetes? (Y/N/U) - See also NIDDK - GoKinD phs000088: NEURP
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of focal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: FLASER
text
Code List
Does proband have a history of focal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: FLASER
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of pan-retinal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: PLASER
text
Code List
Does proband have a history of pan-retinal laser treatment? (Y/N/U) - See also NIDDK - GoKinD phs000088: PLASER
CL Item
No (1)
CL Item
Yes (2)
CL Item
Unknown (3)
Item
Does proband have a history of auto-immune disease? - See also NIDDK - GoKinD phs000088: AUTOIMMU
text
Code List
Does proband have a history of auto-immune disease? - See also NIDDK - GoKinD phs000088: AUTOIMMU
CL Item
None (0)
CL Item
Yes (1)
CL Item
Yes >1 disease (2)
TIMEEVNT
Item
Time between diagnosis of type 1 diabetes (T1D) and kidney complications (years) - See also NIDDK - GoKinD phs000088: TIMEEVNT
text

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