Faculty Bibliography
Searched for:
school:SOM
Department/Unit:Population Health
Total Results:
12788
The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium
The prevalence of type 2 diabetes in youth has increased substantially, yet the genetic underpinnings remain largely unexplored. To identify genetic variants predisposing to youth-onset type 2 diabetes, we formed ProDiGY, a multi-ethnic collaboration of three studies (TODAY, SEARCH, and T2D-GENES) with 3,006 youth type 2 diabetes cases (mean age 15.1±2.9 y) and 6,061 diabetes-free adult controls (mean age 54.2±12.4 y). After stratifying by principal component-clustered ethnicity, we performed association analyses on ∼10 million imputed variants using a generalized linear mixed model incorporating a genetic relationship matrix to account for population structure and adjusting for sex. We identified 7 genome-wide significant loci, including the novel locus rs10992863 in PHF2 (P=3.2×10-8, odds ratio [OR]=1.23). Known loci identified in our analysis include rs7903146 in TCF7L2 (P=8.0×10-20, OR 1.58), rs72982988 near MC4R (P=4.4×10-14, OR=1.53), rs200893788 in CDC123 (P=1.1×10-12, OR= 1.32), rs2237892 in KCNQ1 (P=4.8×10-11, OR=1.59), rs937589119 in IGF2BP2 (P=3.1×10-9, OR=1.34) and rs113748381 in SLC16A11 (P=4.1×10-8, OR=1.04). Secondary analysis with 856 diabetes-free youth controls uncovered an additional locus in CPEB2 (P=3.2×10-8, OR=2.1) and consistent direction of effect for diabetes risk. In conclusion, we identified both known and novel loci in the first genome wide association study (GWAS) of youth-onset type 2 diabetes.
PMID: 33479058
ISSN: 1939-327x
CID: 4760942
The Role of Duplex Ultrasound in Assessing AVF Maturation
OBJECTIVES/OBJECTIVE:Arteriovenous fistulas (AVFs) are favored for hemodialysis (HD) access. However, in many instances AVFs fail to mature. We examined the utility of postoperative color duplex ultrasound (CDU) in assessing AVF maturation and determining the need for balloon assisted maturation (BAM). METHODS:633 patients underwent AVFs creation at a single institution from 2015 - 2018. 339 patients (54%) underwent CDU at a median of 8 weeks post-operatively. We collected the following parameters: vein diameter, volume flow (VF), peak systolic velocities in arterial inflow and venous outflow, and presence of stealing branches. A peak systolic velocity ratio (SVR) of ≥2 correlated with ≥50% stenosis in venous outflow, and SVR ≥3 correlated with ≥50% stenosis at the anastomosis. AVFs were considered mature when they were successfully cannulated on dialysis. A Generalized Linear Mixed Model was created to compare duplex criteria associated with successful use of AVF (maturation) to those AVFs that required further intervention or failed to mature. Fistulography images, the current gold standard, were compared to findings from CDU studies to determine validity of the duplex ultrasound RESULTS: Of the 339 AVFs with postoperative CDU, 31.3% matured without interventions, 38.3% required BAM, 9.7% thrombosed, and the remaining patients were not yet on HD. Based on GLMM analysis, the probability of AVF maturation increases if CDU demonstrated one of the following: the vein diameter is ≥6 (OR=38.7), no evidence of stenosis in the venous outflow tract (OR=35.6), no stealing branches (OR=21.6) and VF ≥675 (OR=5.0). Fistulography was performed in 195 patents. Sensitivity and specificity for each are as follows: vein diameter (84.3%, 28.6%), stenosis (59.3%, 78.8%), stealing branches (20.7%, 92.7%). CONCLUSIONS:Postoperative CDU should be considered routine to correct anatomical findings that might limit AVFs maturation and identify the need further interventions.
PMID: 33227470
ISSN: 1615-5947
CID: 4680352
Intraductal papillary mucinous neoplasm (IPMN) of the pancreas: recommendations for Standardized Imaging and Reporting from the Society of Abdominal Radiology IPMN disease focused panel
There have been many publications detailing imaging features of malignant transformation of intraductal papillary mucinous neoplasms (IPMN), management and recommendations for imaging follow-up of diagnosed or presumed IPMN. However, there is no consensus on several practical aspects of imaging IPMN that could serve as a clinical guide for radiologists and enable future data mining for research. These aspects include how to measure IPMN, define reporting terminology, standardize reporting and unify guidelines for surveillance. The Society of Abdominal Radiology (SAR) created multiple Disease-Focused Panels (DFP) comprised multidisciplinary panel members who focus on a particular disease, with the goal to develop ways for radiologists to improve patient care, education, and research. DFP members met to identify the current controversies and limitations of imaging pancreatic IPMN. This paper aims to provide a practical review of the key imaging characteristics of IPMN for trainees and practicing radiologists, to guide uniformity of performance and interpretation of surveillance imaging studies, and to improve communication with clinicians by providing a lexicon and reporting template based on the experience of the SAR-DFP panel members.
PMID: 33185741
ISSN: 2366-0058
CID: 4671962
Longitudinal changes in the macula and optic nerve in familial dysautonomia
OBJECTIVE:Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we characterized the structural changes in the macula, peripapillary and the optic nerve head (ONH) regions in subjects with FD. METHODS:Data was consecutively collected from subjects attending the FD clinic between 2012 and 2019. All subjects were imaged with spectral-domain Optical Coherence Tomography (OCT). Global and sectoral measurements of mean retinal nerve fiber layer (RNFL) and macular ganglion cell and inner plexiform layer (GCIPL) thickness, and ONH parameters of rim area, average cup-to-disc (C:D) ratio, and cup volume were used for the analysis. The best fit models (linear, quadratic and broken stick linear model) were used to describe the longitudinal change in each of the parameters. RESULTS:91 subjects (149 eyes) with FD of ages 5-56 years were included in the analysis. The rate of change for average RNFL and average GCIPL thicknesses were significant before reaching a plateau at the age of 26.2 for RNFL and 24.8 for GCIPL (- 0.861 µm/year (95% CI - 1.026, - 0.693) and - 0.553 µm/year (95% CI - 0.645, - 0.461), respectively). Significant linear rate of progression was noted for all ONH parameters, except for a subset of subjects (24%), with no cupping that did not show progression in any of the ONH parameters. CONCLUSIONS:The rapidly declining RNFL and GCIPL can explain the progressive visual impairment previously reported in these subjects. Among all structural parameters, ONH parameters might be most suitable for longitudinal follow-up, in eyes with a measurable cup.
PMID: 33180192
ISSN: 1432-1459
CID: 4663032
Exploring nonprescribed use of buprenorphine in the criminal justice system through qualitative interviews among individuals recently released from incarceration
BACKGROUND:Buprenorphine treatment remains unavailable in many jails and prisons, but use of nonprescribed (i.e., diverted) buprenorphine has been reported in these settings. The purpose of this analysis is to explore the experiences and motivations behind the use of diverted buprenorphine among recently incarcerated individuals. METHODS:Adults with opioid misuse who were recently released from jail or prison (n= 26; 58% male) completed semi-structured qualitative interviews as part of a study focused on buprenorphine diversion in the criminal justice system. Qualitative interviews explored participants' incarceration experiences and opioid use background, knowledge of buprenorphine and other substance use in jails/prisons, personal use of buprenorphine while incarcerated, reasons for using buprenorphine while incarcerated, and knowledge of how buprenorphine is brought into and acquired in jails/prisons. The study recorded and transcribed interviews, and analyzed the narratives for content related to these predetermined thematic areas. RESULTS:Key themes emerging from the interviews surrounding buprenorphine diversion during incarceration included: 1) the perceived high prevalence of diverted buprenorphine in jail/prison settings, 2) how the perception of prevalence is related to buprenorphine sublingual film formulation, 3) adaptive routes of administration related to the high cost of diverted buprenorphine, and 4) reasons individuals who are incarcerated use diverted buprenorphine (to achieve euphoric effects and cope with confinement, in contrast to using for self-treatment/withdrawal management as is done in the community). CONCLUSION/CONCLUSIONS:Participants reported widespread availability of diverted buprenorphine in criminal justice facilities, and characterized reasons for its use specific to these contexts. More research is needed to determine the impact of expanding buprenorphine treatment in jails and prisons on inmates' use of diverted buprenorphine, and future research should explore these intersections as treatment initiation opportunities.
PMID: 33612198
ISSN: 1873-6483
CID: 4799952
Exposure to metal mixtures in relation to blood pressure among children 5-7 years old: An observational study in Bangladesh
Hypertension in later life, a significant risk factor for cardiovascular disease, has been linked to elevated blood pressure in early life. Exposure to metals may influence childhood blood pressure; however, previous research is limited and has mainly focused on evaluating the toxicity of single metal exposures. This study evaluates the associations between exposure to metal mixtures and blood pressure among Bangladeshi children age 5-7 years.
PMCID:7939402
PMID: 33778363
ISSN: 2474-7882
CID: 4830502
Social Determinants Matter For Hospital Readmission Policy: Insights From New York City
This study assessed the impact of individual social risk factor variables and social determinants of health (SDOH) measures on hospital readmission rates and penalties used in the Centers for Medicare and Medicaid Services (CMS) Hospital Readmissions Reduction Program (HRRP). Using 2012-16 hospital discharge data from New York City, we projected HRRP penalties by augmenting CMS's readmission model for heart attack, heart failure, and pneumonia with SDOH scores constructed at each of four geographic levels and a measure of individual-level social risk. Including additional SDOH scores in the model, especially those constructed with the most granular geographic data, along with social risk factor variables substantially affects projected penalties for hospitals treating the highest proportion of patients with high SDOH scores. Improved performance occurred even after we included peer-group stratification in the HRRP model pursuant to the 21st Century Cures Act. Small improvements in model accuracy were associated with substantial shifts in projected performance. Our results suggest that CMS's continued omission of relevant patient and geographic data from the HRRP readmission model misallocates penalties attributable to SDOH and social risk factor effects to hospitals with the largest share of high-risk patients.
PMID: 33819098
ISSN: 2694-233x
CID: 5774262
Home blood pressure monitoring for hypertension management during COVID-19 pandemic [Meeting Abstract]
Background: Home blood pressure measurement (HBPM) has been a time-honored supplement to periodic in-office measurement to facilitate primary care physician (PCP) diagnosis of hypertension (HTN), its ongoing control and medication management. PCPs, in response to COVID-19, adopted telemedicine as the sole means of care, elevating HBPM as the essential HTN surveillance tool. We assessed the feasibility of this approach in a Veteran Affairs (VA) geriatric clinic.
Method(s): Study subjects included all the Veterans seen by New York Harbor VA geriatrics fellows' clinic between January 1, 2019 and March 1, 2020 and who have HTN listed as an electronic health record (EHR) diagnosis. Those with systolic blood pressure (SBP) > 140 mmHg were prioritized. We called these patients to assess adherence to BP self-care and reconcile medications, to identify reasons for poor adherence and to offer solutions. Patients were called again within two months to re-assess adherence, collect BP measures and adjust medications as needed.
Result(s): Among 102 patients diagnosed with HTN, 41 had not achieved the goal of SBP <140 mmHg prior to this intervention. We reached 78% (n=32) of these 41 patients (requiring 1-3 phone calls). All reported medical adherence, but none were found to consistently check BP at home with any frequency or proper technique. For the 14 patients having no BP monitor at home, we sent a monitor to 10 through prescription and enrolled 4 in a home telehealth (HT) program that uses daily remote measurement. We provided detailed instruction of proper HBPM during the initial interview. At follow-up, 47% (n=15) practiced HBPM and reported BP readings within goal, indicating no need for change in care. Of these 15, 11 had their own BP monitors; 2 achieved control through the HT program. However, only 2 of the 10 patients who received the prescribed BP monitor started HBPM and demonstrated good control.
Conclusion(s): Given our reliance on telemedicine, HBPM is feasible for outpatient HTN management. Close PCP follow-up to encourage consistent HBPM practice may improve and sustain the success of this strategy. The quality of self-reported data should be assessed during office visits
Method(s): Study subjects included all the Veterans seen by New York Harbor VA geriatrics fellows' clinic between January 1, 2019 and March 1, 2020 and who have HTN listed as an electronic health record (EHR) diagnosis. Those with systolic blood pressure (SBP) > 140 mmHg were prioritized. We called these patients to assess adherence to BP self-care and reconcile medications, to identify reasons for poor adherence and to offer solutions. Patients were called again within two months to re-assess adherence, collect BP measures and adjust medications as needed.
Result(s): Among 102 patients diagnosed with HTN, 41 had not achieved the goal of SBP <140 mmHg prior to this intervention. We reached 78% (n=32) of these 41 patients (requiring 1-3 phone calls). All reported medical adherence, but none were found to consistently check BP at home with any frequency or proper technique. For the 14 patients having no BP monitor at home, we sent a monitor to 10 through prescription and enrolled 4 in a home telehealth (HT) program that uses daily remote measurement. We provided detailed instruction of proper HBPM during the initial interview. At follow-up, 47% (n=15) practiced HBPM and reported BP readings within goal, indicating no need for change in care. Of these 15, 11 had their own BP monitors; 2 achieved control through the HT program. However, only 2 of the 10 patients who received the prescribed BP monitor started HBPM and demonstrated good control.
Conclusion(s): Given our reliance on telemedicine, HBPM is feasible for outpatient HTN management. Close PCP follow-up to encourage consistent HBPM practice may improve and sustain the success of this strategy. The quality of self-reported data should be assessed during office visits
EMBASE:634826730
ISSN: 1532-5415
CID: 4870592
The HEAR-VA Pilot Study: Hearing Assistance Provided to Older Adults in the Emergency Department
BACKGROUND/OBJECTIVES/OBJECTIVE:Poor communication is a barrier to care for people with hearing loss. We assessed the feasibility and potential benefit of providing a simple hearing assistance device during an emergency department (ED) visit, for people who reported difficulty hearing. DESIGN/METHODS:Randomized controlled pilot study. SETTING/METHODS:The ED of New York Harbor Manhattan Veterans Administration Medical Center. PARTICIPANTS/METHODS:One hundred and thirty-three Veterans aged 60 and older, presenting to the ED, likely to be discharged to home, who either (1) said that they had difficulty hearing, or (2) scored 10 or greater (range 0-40) on the Hearing Handicap Inventory-Survey (HHI-S). INTERVENTION/METHODS:Subjects were randomized (1:1), and intervention subjects received a personal amplifier (PA; Williams Sound Pocketalker 2.0) for use during their ED visit. MEASUREMENTS/METHODS:Three survey instruments: (1) six-item Hearing and Understanding Questionnaire (HUQ); (2) three-item Care Transitions Measure; and (3) three-item Patient Understanding of Discharge Information. Post-ED visit phone calls to assess ED returns. RESULTS:Of the 133 subjects, 98.3% were male; mean age was 76.4 years (standard deviation (SD) = 9.2). Mean HHI-S score was 19.2 (SD = 8.3). Across all HUQ items, intervention subjects reported better in-ED experience than controls. Seventy-five percent of intervention subjects agreed or strongly agreed that ability to understand what was said was without effort versus 56% for controls. Seventy-five percent of intervention subjects versus 36% of controls said clinicians provided them with an explanation about presenting problems. Three percent of intervention subjects had an ED revisit within 3 days compared with 9.0% controls. CONCLUSION/CONCLUSIONS:Veterans with hearing difficulties reported improved in-ED experiences with use of PAs, and were less likely to return to the ED within 3 days. PAs may be an important adjunct to older patient ED care but require validation in a larger more definitive randomized controlled trial.
PMID: 33576037
ISSN: 1532-5415
CID: 4780132
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or LARP4B. Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
PMID: 33137338
ISSN: 1523-1755
CID: 5585922
