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Article ; Online: Ultra-high Resolution EELS Analysis and STEM Imaging at 20 keV.

Dellby, N / Quillin, S C / Krivanek, O L / Hrncirik, P / Mittelberger, A / Plotkin-Swing, B / Lovejoy, T C

Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada

2023 Volume 29, Issue Supplement_1, Page(s) 626–627

Language	English
Publishing date	2023-08-23
Publishing country	England
Document type	Journal Article
ZDB-ID	1385710-1
ISSN	1435-8115 ; 1431-9276
ISSN (online)	1435-8115
ISSN	1431-9276
DOI	10.1093/micmic/ozad067.305
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Article: Surgery for acromegaly: Indications and goals.

Bray, David P / Mannam, Sai / Rindler, Rima S / Quillin, Joseph W / Oyesiku, Nelson M

Frontiers in endocrinology

2022 Volume 13, Page(s) 924589

Abstract: Acromegaly is a disease that occurs secondary to high levels of GH, most often from a hormone-secreting pituitary adenoma, with multisystem adverse effects. Diagnosis includes serum GH and IGF-1 levels, and obtaining an MRI pituitary protocol to assess ... ...

Abstract	Acromegaly is a disease that occurs secondary to high levels of GH, most often from a hormone-secreting pituitary adenoma, with multisystem adverse effects. Diagnosis includes serum GH and IGF-1 levels, and obtaining an MRI pituitary protocol to assess for a functional pituitary adenoma. Attempted gross total resection of the GH-secreting adenoma is the gold standard in treatment for patients with acromegaly for a goal of biochemical remission. Medical and radiation therapies are available when patients do not achieve biochemical cure after surgical therapy.
MeSH term(s)	Acromegaly/complications ; Acromegaly/surgery ; Adenoma/complications ; Adenoma/surgery ; Goals ; Growth Hormone-Secreting Pituitary Adenoma/complications ; Growth Hormone-Secreting Pituitary Adenoma/surgery ; Humans ; Pituitary Neoplasms/complications ; Pituitary Neoplasms/surgery
Language	English
Publishing date	2022-08-04
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.924589
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Article ; Online: Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design.

Hagiwara, Nao / Harika, Nadia / Carmany, Erin P / Shin, Yongyun / Eggly, Susan / Jones, Shawn C T / Quillin, John

BMC cancer

2023 Volume 23, Issue 1, Page(s) 983

Abstract: ... to die at higher rates from cancer than any other U.S. racial group. Because prevention is a key ...

Abstract	Background: Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group. Because prevention is a key to the cost-effective and long-term control of cancer, the potential for cancer genetic counseling to play a central role in reducing racial cancer disparities is high. However, the benefits of genetic counseling are not equitable across race. Only 2% of genetic counselors self-identify as Black/African American, so most genetic counseling encounters with Black patients are racially discordant. Patients in racially discordant medical interactions tend to have poorer quality patient-provider communication and receive suboptimal clinical recommendations. One major factor that contributes to these healthcare disparities is racial bias. Drawing on findings from prior research, we hypothesize that genetic counselor providers' implicit racial prejudice will be associated negatively with the quality of patient-provider communication, while providers' explicit negative racial stereotypes will be associated negatively with the comprehensiveness of clinical discussions of cancer risk and genetic testing for Black (vs. White) patients. Methods: Using a convergent mixed methods research design, we will collect data from at least 15 genetic counseling providers, from two different institutions, and their 220 patients (approximately equal number of Black and White patients per provider) whose appointments are for a hereditary cancer condition. The data sources will include two provider surveys, two patient surveys, video- and/or audio-recordings of genetic counseling encounters, and medical chart reviews. The recorded cancer genetic counseling in-person and telehealth encounters will be analyzed both qualitatively and quantitatively to assess the quality of patient-provider communication and the comprehensiveness of clinical discussion. Those data will be linked to pre- and post-encounter survey data and data from medical chart reviews to test our hypotheses. Discussion: Findings from this multi-site study will highlight specific aspects of cancer genetic counseling encounters (patient-provider communication and clinical recommendations) that are directly associated with patient-centered outcomes (e.g., satisfaction, trust, genetic testing completion). Patient-provider communication and clinical recommendations are modifiable factors that can be integrated into current genetic counseling training curricula and thus can have immediate impact on genetic counseling training and practice.
MeSH term(s)	Humans ; Communication ; Counseling ; Counselors ; Genetic Counseling ; Healthcare Disparities ; Neoplasms/genetics ; Multicenter Studies as Topic
Language	English
Publishing date	2023-10-16
Publishing country	England
Document type	Journal Article
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-023-11486-x
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Article ; Online: Meta-analysis of epigenetic aging in schizophrenia reveals multifaceted relationships with age, sex, illness duration, and polygenic risk.

Ori, Anil P S / Olde Loohuis, Loes M / Guintivano, Jerry / Hannon, Eilis / Dempster, Emma / St Clair, David / Bass, Nick J / McQuillin, Andrew / Mill, Jonathan / Sullivan, Patrick F / Kahn, Rene S / Horvath, Steve / Ophoff, Roel A

Clinical epigenetics

2024 Volume 16, Issue 1, Page(s) 53

Abstract: ... of + 3.82 years (CI 2.02-5.61, P = 1.1E-03). Phenotypic aging and SCZ polygenic risk contributed ...

Abstract	Background: The study of biological age acceleration may help identify at-risk individuals and reduce the rising global burden of age-related diseases. Using DNA methylation (DNAm) clocks, we investigated biological aging in schizophrenia (SCZ), a mental illness that is associated with an increased prevalence of age-related disabilities and morbidities. In a whole blood DNAm sample of 1090 SCZ cases and 1206 controls across four European cohorts, we performed a meta-analysis of differential aging using three DNAm clocks (i.e., Hannum, Horvath, and Levine). To dissect how DNAm aging contributes to SCZ, we integrated information on duration of illness and SCZ polygenic risk, as well as stratified our analyses by chronological age and biological sex. Results: We found that blood-based DNAm aging is significantly altered in SCZ independent from duration of the illness since onset. We observed sex-specific and nonlinear age effects that differed between clocks and point to possible distinct age windows of altered aging in SCZ. Most notably, intrinsic cellular age (Horvath clock) is decelerated in SCZ cases in young adulthood, while phenotypic age (Levine clock) is accelerated in later adulthood compared to controls. Accelerated phenotypic aging was most pronounced in women with SCZ carrying a high polygenic burden with an age acceleration of + 3.82 years (CI 2.02-5.61, P = 1.1E-03). Phenotypic aging and SCZ polygenic risk contributed additively to the illness and together explained up to 14.38% of the variance in disease status. Conclusions: Our study contributes to the growing body of evidence of altered DNAm aging in SCZ and points to intrinsic age deceleration in younger adulthood and phenotypic age acceleration in later adulthood in SCZ. Since increased phenotypic age is associated with increased risk of all-cause mortality, our findings indicate that specific and identifiable patient groups are at increased mortality risk as measured by the Levine clock. Our study did not find that DNAm aging could be explained by the duration of illness of patients, but we did observe age- and sex-specific effects that warrant further investigation. Finally, our results show that combining genetic and epigenetic predictors can improve predictions of disease outcomes and may help with disease management in schizophrenia.
MeSH term(s)	Adult ; Female ; Humans ; Male ; Young Adult ; Aging/genetics ; Cellular Senescence ; DNA Methylation ; Epigenesis, Genetic ; Schizophrenia/genetics
Language	English
Publishing date	2024-04-08
Publishing country	Germany
Document type	Meta-Analysis ; Journal Article
ZDB-ID	2553921-8
ISSN	1868-7083 ; 1868-7075
ISSN (online)	1868-7083
ISSN	1868-7075
DOI	10.1186/s13148-024-01660-8
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Article ; Online: Atomic Resolution SE Imaging in a 30-200 keV Aberration-corrected UHV STEM.

Hotz, M T / Martis, J / Radlicka, T / Bacon, N J / Dellby, N / Lovejoy, T C / Quillin, S C / Hwang, H Y / Singh, P / Krivanek, O L

Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada

2023 Volume 29, Issue Supplement_1, Page(s) 2064–2065

Language	English
Publishing date	2023-08-23
Publishing country	England
Document type	Journal Article
ZDB-ID	1385710-1
ISSN	1435-8115 ; 1431-9276
ISSN (online)	1435-8115
ISSN	1431-9276
DOI	10.1093/micmic/ozad067.1068
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Article ; Online: The Kidney Transplant Equity Index: Improving Racial and Ethnic Minority Access to Transplantation.

Delman, Aaron M / Turner, Kevin M / Silski, Latifa S / Quillin, Ralph C / Estrada, Martha / Lemon, Kristina / Cuffy, Madison C / Shah, Shimul A

Annals of surgery

2022 Volume 276, Issue 3, Page(s) 420–429

Abstract: ... High KTEI centers performed more KTs for Black (105.5 vs 24, P <0.001), Hispanic (55.5 vs 7, P <0.001 ... and American Indian (1.0 vs 0.0, P <0.001) patients than low KTEI centers. In addition, high KTEI ... centers transplanted more patients with higher unemployment (52 vs 44, P <0.001), worse social deprivation ...

Abstract	Objectives: To develop a scalable metric which quantifies kidney transplant (KT) centers' performance providing equitable access to KT for minority patients, based on the individualized prelisting prevalence of end-stage renal disease (ESRD). Background: Racial and ethnic disparities for access to transplant in patients with ESRD are well described; however, variation in care among KT centers remains unknown. Furthermore, no mechanism exists that quantifies how well a KT center provides equitable access to KT for minority patients with ESRD. Methods: From 2013 to 2018, custom datasets from the United States Renal Data System and United Network for Organ Sharing were merged to calculate the Kidney Transplant Equity Index (KTEI), defined as the number of minority patients transplanted at a center relative to the prevalence of minority patients with ESRD in each center's health service area. Markers of socioeconomic status and recipient outcomes were compared between high and low KTEI centers. Results: A total of 249 transplant centers performed 111,959 KTs relative to 475,914 nontransplanted patients with ESRD. High KTEI centers performed more KTs for Black (105.5 vs 24, P <0.001), Hispanic (55.5 vs 7, P <0.001), and American Indian (1.0 vs 0.0, P <0.001) patients than low KTEI centers. In addition, high KTEI centers transplanted more patients with higher unemployment (52 vs 44, P <0.001), worse social deprivation (53 vs 46, P <0.001), and lower educational attainment (52 vs 43, P <0.001). While providing increased access to transplant for minority and low socioeconomic status populations, high KTEI centers had improved patient survival (hazard ratio: 0.86, 95% confidence interval: 0.77-0.95). Conclusions: The KTEI is the first metric to quantify minority access to KT incorporating the prelisting ESRD prevalence individualized to transplant centers. KTEIs uncover significant national variation in transplant practices and identify highly equitable centers. This novel metric should be used to disseminate best practices for minority and low socioeconomic patients with ESRD.
MeSH term(s)	Ethnic and Racial Minorities ; Ethnicity ; Humans ; Kidney Failure, Chronic/epidemiology ; Kidney Transplantation ; Minority Groups ; United States
Language	English
Publishing date	2022-06-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	340-2
ISSN	1528-1140 ; 0003-4932
ISSN (online)	1528-1140
ISSN	0003-4932
DOI	10.1097/SLA.0000000000005549
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Article ; Online: Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder.

Mire, Sarah S / McQuillin, Samuel / Racine, Madeline / Goin-Kochel, Robin P

Autism research : official journal of the International Society for Autism Research

2019 Volume 12, Issue 5, Page(s) 843–854

Abstract: Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then ... ...

Abstract	Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies.
MeSH term(s)	Adolescent ; Autism Spectrum Disorder/therapy ; Bayes Theorem ; Behavior Therapy/statistics & numerical data ; Child ; Child, Preschool ; Female ; Humans ; Latent Class Analysis ; Male ; Occupational Therapy/statistics & numerical data ; Parents ; Psychotropic Drugs/therapeutic use ; School Health Services/statistics & numerical data ; Socioeconomic Factors ; Speech Therapy/statistics & numerical data
Chemical Substances	Psychotropic Drugs
Language	English
Publishing date	2019-04-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	2481338-2
ISSN	1939-3806 ; 1939-3792
ISSN (online)	1939-3806
ISSN	1939-3792
DOI	10.1002/aur.2107
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Article ; Online: Long-term follow-up of temporary abdominal closure in complex abdomens during liver transplant.

Whitrock, Jenna N / Chae, Ryan C / Kinzer, Alexandra B / Delman, Aaron M / Price, Adam D / Sisak, Stephanie / Carter, Michela M / Cuffy, Madison C / Lemon, Kristina H / Chang, Alex L / Silski, Latifa S / Quillin, Ralph C / Shah, Shimul A

Surgery

2023 Volume 174, Issue 4, Page(s) 996–1000

Abstract: ... higher Model for End-Stage Liver Disease scores preoperatively (27 [22-36] vs 23 [20-28], P = .0002), had ... higher rates of dialysis preoperatively (28.0% vs 12.5%, P = .0007), and were more likely to be ... hospitalized within 90 days of liver transplantation (64.0% vs 47.5%, P = .0093). On univariable ...

Abstract	Background: Temporary abdominal closure is commonly employed in liver transplantation when patient factors make primary fascial closure challenging. However, there is minimal data evaluating long-term survival and patient outcomes after temporary abdominal closure. Methods: A single-center, retrospective review of patients undergoing liver transplantation from January 2013 through December 2017 was performed with a 5-year follow-up. Patients were characterized as either requiring temporary abdominal closure or immediate primary fascial closure at the time of liver transplantation. Results: Of 422 patients who underwent 436 liver transplantations, 17.2% (n = 75) required temporary abdominal closure, whereas 82.8% (n = 361) underwent primary fascial closure. Patients requiring temporary abdominal closure had higher Model for End-Stage Liver Disease scores preoperatively (27 [22-36] vs 23 [20-28], P = .0002), had higher rates of dialysis preoperatively (28.0% vs 12.5%, P = .0007), and were more likely to be hospitalized within 90 days of liver transplantation (64.0% vs 47.5%, P = .0093). On univariable analysis, survival at 1 year was different between the groups (90.9% surviving at 1 year for primary fascial closure versus 82.7% for temporary abdominal closure, P = .0356); however, there was no significant difference in survival at 5 years (83.7% vs 76.0%, P = .11). On multivariable analysis, there was no difference in survival after adjusting for multiple factors. Patients requiring temporary abdominal closure were more likely to have longer hospital stays (median 16 days [9.75-29.5] vs 8 days [6-14], P < .0001), more likely to be readmitted within 30 days (45.3% vs 32.2%, P = .03), and less likely to be discharged home (36.5% vs 74.2%, P < .0001). Conclusions: Temporary abdominal closure after liver transplantation appears safe and has similar outcomes to primary fascial closure, though it is used more commonly in complex patients.
MeSH term(s)	Humans ; Liver Transplantation/adverse effects ; Follow-Up Studies ; End Stage Liver Disease/surgery ; Severity of Illness Index ; Abdomen/surgery ; Laparotomy ; Retrospective Studies ; Abdominal Wound Closure Techniques ; Abdominal Injuries/surgery
Language	English
Publishing date	2023-08-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	202467-6
ISSN	1532-7361 ; 0039-6060
ISSN (online)	1532-7361
ISSN	0039-6060
DOI	10.1016/j.surg.2023.07.009
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Article ; Online: Predicting ADHD in alcohol dependence using polygenic risk scores for ADHD.

Patel, Kejal H S / Walters, G Bragi / Stefánsson, Hreinn / Stefánsson, Kári / Degenhardt, Franziska / Nothen, Markus / Van Der Veen, Tracey / Demontis, Ditte / Borglum, Anders / Kristiansen, Mark / Bass, Nicholas J / McQuillin, Andrew

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

2023 , Page(s) e32967

Abstract: ... in the AD cohort with ADHD (mean 0.30, standard deviation (SD) 0.92; p = 3.9 × 10 ...

Abstract	Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder with a high degree of comorbidity, including substance misuse. We aimed to assess whether ADHD polygenic risk scores (PRS) could predict ADHD diagnosis in alcohol dependence (AD). ADHD PRS were generated for 1223 AD subjects with ADHD diagnosis information and 1818 healthy controls. ADHD PRS distributions were compared to evaluate the differences between healthy controls and AD cases with and without ADHD. We found increased ADHD PRS means in the AD cohort with ADHD (mean 0.30, standard deviation (SD) 0.92; p = 3.9 × 10
Language	English
Publishing date	2023-11-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108616-3
ISSN	1552-485X ; 1552-4841 ; 0148-7299
ISSN (online)	1552-485X
ISSN	1552-4841 ; 0148-7299
DOI	10.1002/ajmg.b.32967
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Article ; Online: Portable hypothermic oxygenated machine perfusion for organ preservation in liver transplantation: A randomized, open-label, clinical trial.

Panayotova, Guergana G / Lunsford, Keri E / Quillin, R Cutler / Rana, Abbas / Agopian, Vatche G / Lee-Riddle, Grace S / Markovic, Daniela / Paterno, Flavio / Griesemer, Adam D / Amin, Arpit / Alonso, Diane / Rocca, Juan P / Borja-Cacho, Daniel / Hernandez-Alejandro, Roberto / Fung, John J / Pelletier, Shawn J / Shah, Shimul A / Guarrera, James V

Hepatology (Baltimore, Md.)

2023 Volume 79, Issue 5, Page(s) 1033–1047

Abstract: ... O 2 [median (IQR) 3.4% (2.4-6.5) vs. 4.5% (2.9-9.4), p =0.024]. Primary nonfunction occurred in 2.2 ... of all SCS (n=3, p =0.10). Biliary strictures occurred in 16.4% SCS (n=12) and 6.3% (n=4) HMP-O 2 ( p =0.18 ...

Abstract	Background and aims: In liver transplantation, cold preservation induces ischemia, resulting in significant reperfusion injury. Hypothermic oxygenated machine perfusion (HMP-O 2 ) has shown benefits compared to static cold storage (SCS) by limiting ischemia-reperfusion injury. This study reports outcomes using a novel portable HMP-O 2 device in the first US randomized control trial. Approach and results: The PILOT trial (NCT03484455) was a multicenter, randomized, open-label, noninferiority trial, with participants randomized to HMP-O 2 or SCS. HMP-O 2 livers were preserved using the Lifeport Liver Transporter and Vasosol perfusion solution. The primary outcome was early allograft dysfunction. Noninferiority margin was 7.5%. From April 3, 2019, to July 12, 2022, 179 patients were randomized to HMP-O 2 (n=90) or SCS (n=89). The per-protocol cohort included 63 HMP-O 2 and 73 SCS. Early allograft dysfunction occurred in 11.1% HMP-O 2 (N=7) and 16.4% SCS (N=12). The risk difference between HMP-O 2 and SCS was -5.33% (one-sided 95% upper confidence limit of 5.81%), establishing noninferiority. The risk of graft failure as predicted by Liver Graft Assessment Following Transplant score at seven days (L-GrAFT 7 ) was lower with HMP-O 2 [median (IQR) 3.4% (2.4-6.5) vs. 4.5% (2.9-9.4), p =0.024]. Primary nonfunction occurred in 2.2% of all SCS (n=3, p =0.10). Biliary strictures occurred in 16.4% SCS (n=12) and 6.3% (n=4) HMP-O 2 ( p =0.18). Nonanastomotic biliary strictures occurred only in SCS (n=4). Conclusions: HMP-O 2 demonstrates safety and noninferior efficacy for liver graft preservation in comparison to SCS. Early allograft failure by L-GrAFT 7 was lower in HMP-O 2 , suggesting improved early clinical function. Recipients of HMP-O 2 livers also demonstrated a lower incidence of primary nonfunction and biliary strictures, although this difference did not reach significance.
MeSH term(s)	Humans ; Liver Transplantation/methods ; Organ Preservation/methods ; Constriction, Pathologic ; Liver ; Perfusion/methods ; Reperfusion Injury/etiology ; Reperfusion Injury/prevention & control
Language	English
Publishing date	2023-12-13
Publishing country	United States
Document type	Randomized Controlled Trial ; Multicenter Study ; Journal Article
ZDB-ID	604603-4
ISSN	1527-3350 ; 0270-9139
ISSN (online)	1527-3350
ISSN	0270-9139
DOI	10.1097/HEP.0000000000000715
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