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1.
Transcult Psychiatry ; : 13634615241253167, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38841801

RESUMEN

Despite the success of psychoeducational interventions at improving willingness to seek professional help for mental illness, limited research explores the effect of culturally tailored psychoeducational interventions on African American (AA) college students. The objective of this study was to determine if exposure to a culturally relevant psychoeducational intervention impacted AA young adult attitudes, subjective norms, perceived behavioral control, depression stigma, disclosure and willingness to seek help for depression. We conducted a one-group pre- and post-test intervention study of AA college students (N = 75). The 2.5-h intervention featured presentations, large-group discussions, videos, and active learning exercises and was guided by applying a cultural adaptation framework to an existing psychoeducational intervention. The self-administered surveys were created using the Theory of Planned Behavior as a guide. Data were analyzed using paired t-tests. A total of 70 participants completed both pre- and post-test surveys. Overall, willingness, attitude, and disclosure significantly increased after the intervention (p < .001). Additionally, depression stigma significantly decreased after the intervention, indicating fewer stigmatizing beliefs about depression (p < .001). Willingness to seek help for depression among AA college students can be improved through culturally relevant and interactive psychoeducational interventions. These interventions can also improve negative attitudes and perceived behavioral control toward seeking help and decrease stigmatizing beliefs. More research is needed to explore the longitudinal impact of culturally relevant psychoeducational interventions and how they may affect actual help-seeking behavior among AA college students.

2.
J Occup Environ Med ; 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38739926

RESUMEN

OBJECTIVE: Adverse respiratory outcomes in post-9/11 Veterans with elevated urinary metal measures and enrolled in the VA's Toxic Embedded Fragment registry were compared to those without elevated urinary metals. METHODS: Veterans completed questionnaires, pulmonary physiology tests (pulmonary function and oscillometry) and provided urine samples for analysis of 13 metals. Respiratory symptoms, diagnoses and physiology measures were compared in Veterans with ≥1 urine metal elevation to those without metal elevations, adjusted for covariates, including smoking. RESULTS: Among 402 study participants, 24% had elevated urine metals, often just exceeding upper limits of reference values. Compared to Veterans without elevated metals, those with elevated metals had had higher FEV1 values but similar frequencies of respiratory symptoms and diagnoses and abnormalities on pulmonary physiology tests. CONCLUSIONS: Mild systemic metal elevations in post 9/11 Veterans are not associated with adverse respiratory health outcomes.

3.
Cardiovasc Revasc Med ; 62: 66-72, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38176961

RESUMEN

BACKGROUND: The beneficial role of dual anti-platelet therapy (DAPT) in coronary artery disease is well established. However, there is limited data describing the effects of DAPT in patients with atherosclerotic peripheral artery disease (PAD). The aim of this meta-analysis is to compare clinical outcomes associated with DAPT versus single anti-platelet therapy (SAPT) in patients with symptomatic PAD. METHODS: We performed a literature search for studies assessing the risk of adverse cardiovascular and limb events in cohorts receiving either DAPT or SAPT. The primary endpoint was all cause mortality. The secondary endpoints included graft failure, amputation, total bleeding, severe bleeding and fatal bleeding. The search included the following databases: Ovid MEDLINE, EMBASE, Web of Science, and Google Scholar. The search was not restricted to time or publication status. RESULTS: A total of 11 studies with 54,331 participants (24,449 on SAPT and 29,882 on DAPT) were included. Patients with PAD treated with SAPT had higher all-cause mortality compared to patients treated with DAPT (OR 1.37, 95 % CI 1.09-1.74; p < 0.01). There was no difference in risk of graft failure or amputation between patients treated with SAPT or DAPT (OR 0.9, 95 % CI 0.77-1.06; p = 0.19; OR 1.11, 95 % CI 0.88-1.41; p = 0.37). Patients treated with SAPT had lower total bleeds compared to patients treated with DAPT (OR 0.53, 95 % CI 0.36-0.77; p < 0.01). However, For SAPT plus AC vs SAPT, a total of 8 studies with 17,100 participants (3447 with SAPT plus AC and 8619 with only SAPT) were included. Patients on SAPT plus AC did not have a statistically significant difference in risk for all-cause mortality, (OR 0.91, 95 % CI 0.67-1.24; p = 0.56). SAPT plus AC had significantly lower risk of MI (OR 0.82, 95 % CI 0.69-0.97; p = 0.02), amputation (OR 0.72, 95 % CI 0.53-0.97; p = 0.03), and graft failure (OR 0.66, 95 % CI 0.48-0.93; p = 0.02). There was no significant different in risk of fatal bleeding be-tween the two groups (OR 1.60, 95 % CI 0.76-3.35; p = 0.22). CONCLUSIONS: In patients with symptomatic PAD, a strategy of DAPT may confer a mortality benefit when compared to SAPT without significantly increasing the risk of serious bleeding events.


Asunto(s)
Amputación Quirúrgica , Terapia Antiplaquetaria Doble , Hemorragia , Recuperación del Miembro , Enfermedad Arterial Periférica , Inhibidores de Agregación Plaquetaria , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Terapia Antiplaquetaria Doble/efectos adversos , Hemorragia/inducido químicamente , Enfermedad Arterial Periférica/mortalidad , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/tratamiento farmacológico , Enfermedad Arterial Periférica/terapia , Inhibidores de Agregación Plaquetaria/efectos adversos , Inhibidores de Agregación Plaquetaria/uso terapéutico , Inhibidores de Agregación Plaquetaria/administración & dosificación , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento
4.
BMJ Open Qual ; 12(1)2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36958790

RESUMEN

BACKGROUND: Patients with cognitive impairment exhibiting agitation and aggression are challenging to manage in the acute hospital setting. When a patient's behaviours place themselves or others at risk of harm, a Clinical Aggression Response Team (C-ART) is dispatched.The aims of this project were to describe the characteristics of patients receiving a C-ART call and the experiences of C-ART staff members via semistructured interviews. Additionally, to audit local practice against two established standards of practice (Local C-ART Call Guideline and Australian Cognitive Impairment Guideline), to develop interventions to address identified shortfalls in adherence to these standards of practice and finally to re-evaluate adherence postintervention. METHODS: A retrospective pre and postintervention audit using qualitative (interview) and quantitative (file review) mixed method research approach was used. Interventions targeted doctor hospital orientation sessions, distribution of hospital guidelines including a new pharmacological sedation guideline and finally ward-based brief education sessions. RESULTS: Themes identified postintervention included improved familiarity with C-ART terminology, better understanding of C-ART member roles and improved communication among medical teams. However, there was continued pressure to use pharmacological sedation, a lack of debriefing and poor patient handover.File review of patients postintervention showed improvement from 36.8% to 65.6% in recording a provisional diagnosis and differentials for a patient behaviour necessitating a C-ART call. Additionally, the use of psychotropics during C-ART calls was lowered by 3.3% but did not reach significance (p=0.62). CONCLUSION: Behavioural disturbances in the elderly present many challenges for health staff. Interactive orientation sessions for doctors and distribution of hospital guidelines were shown to improve compliance with Local C-ART Call and Australian Cognitive Impairment Guidelines. Patients who receive multiple C-ART calls require further exploration and consideration, as this subset of the patient population present unique challenges.


Asunto(s)
Disfunción Cognitiva , Urgencias Médicas , Humanos , Anciano , Estudios Retrospectivos , Australia/epidemiología , Hospitales , Disfunción Cognitiva/terapia
7.
Eur J Clin Pharmacol ; 78(6): 965-973, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35218405

RESUMEN

PURPOSE: The aim of this secondary analysis was to identify prodynorphin (PDYN) genetic markers moderating the therapeutic response to treatment of cocaine dependence with buprenorphine/naloxone (Suboxone®; BUP). METHODS: Cocaine-dependent participants (N = 302) were randomly assigned to a platform of injectable, extended-release naltrexone (XR-NTX) and one of three daily medication arms: 4 mg BUP (BUP4), 16 mg BUP (BUP16), or placebo (PLB) for 8 weeks (Parent Trial Registration: Protocol ID: NIDA-CTN-0048, Clinical Trials.gov ID: NCT01402492). DNA was obtained from 277 participants. Treatment response was determined from weeks 3 to 7 over each 1-week period by the number of cocaine-positive urines per total possible urines. RESULTS: In the cross-ancestry group, the PLB group had more cocaine-positive urines than the BUP16 group (P = 0.0021). The interactions of genetic variant × treatment were observed in the rs1022563 A-allele carrier group where the BUP16 group (N = 35) had fewer cocaine-positive urines (P = 0.0006) than did the PLB group (N = 26) and in the rs1997794 A-allele carrier group where the BUP16 group (N = 49) had fewer cocaine-positive urines (P = 0.0003) than did the PLB group (N = 58). No difference was observed in the rs1022563 GG or rs1997794 GG genotype groups between the BUP16 and PLB groups. In the African American-ancestry subgroup, only the rs1022563 A-allele carrier group was associated with treatment response. CONCLUSION: These results suggest that PDYN variants may identify patients who are best suited to treatment with XR-NTX plus buprenorphine for cocaine use disorder pharmacotherapy.


Asunto(s)
Buprenorfina , Trastornos Relacionados con Cocaína , Cocaína , Trastornos Relacionados con Opioides , Buprenorfina/uso terapéutico , Combinación Buprenorfina y Naloxona/uso terapéutico , Cocaína/uso terapéutico , Trastornos Relacionados con Cocaína/tratamiento farmacológico , Trastornos Relacionados con Cocaína/genética , Preparaciones de Acción Retardada/uso terapéutico , Encefalinas , Humanos , Inyecciones Intramusculares , Naltrexona/uso terapéutico , Antagonistas de Narcóticos/uso terapéutico , Precursores de Proteínas
8.
Head Neck ; 44(3): 745-748, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34957635

RESUMEN

BACKGROUND: Postparotidectomy sialocele is a frustrating challenge. Published rates of postparotidectomy fluid collections range from 6% to 39%. We report our experience of 398 parotidectomies performed over a 6-year period. METHODS: A retrospective chart review of parotidectomies performed over a 6-year period was completed. Drain placement, smoking status, tumor size, and postoperative utilization of scopolamine were analyzed. Binary logistical regression and odds ratio calculations were performed. RESULTS: Postparotidectomy sialocele occurred in 25% of patients. Neither suction drain placement nor usage of immediate postoperative scopolamine (in a 22-patient subset) prevented sialocele formation. Smoking status also did not correlate. Increasing resection size was linearly correlated with the risk of sialocele. CONCLUSION: Drain placement and smoking status do not correlate with sialocele prevention after parotidectomy. Sialocele formation directly correlates with the resection size. These data may guide preoperative counseling; however, additional work is necessary to identify effective prevention mechanisms for postparotidectomy sialocele.


Asunto(s)
Enfermedades de las Parótidas , Neoplasias de la Parótida , Humanos , Enfermedades de las Parótidas/cirugía , Glándula Parótida/cirugía , Neoplasias de la Parótida/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/prevención & control , Estudios Retrospectivos
9.
Facial Plast Surg ; 38(1): 7-12, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34225377

RESUMEN

Genetic, developmental, traumatic factors can produce a wide variety of nasal septal deformities in caudal-cephalic/dorsal-maxillary planes alone or in combination. These can be corrected by an endonasal approach through a transfixion incision by resecting, transposing, or utilizing principles of cartilage biomechanics. The authors are proposing a "Rosetta Stone" based on a trizonal analysis of the deviated nose that considers the contribution of each region to the deformity. Clinical assessment of the deviated nose should be segmental as well as global. Surgical correlation of the nasal bones, perpendicular, and quadrilateral plates, lateral cartilages, and turbinates may be necessary to achieve a satisfactory cosmetic and functional results.


Asunto(s)
Enfermedades Nasales , Rinoplastia , Cartílago , Humanos , Maxilar , Tabique Nasal/cirugía , Nariz/cirugía
10.
Physiol Genomics ; 53(5): 193-205, 2021 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-33870723

RESUMEN

Vertical sleeve gastrectomy (VSG) is a surgical weight loss procedure that resects 80% of the stomach, creating a tube linking the esophagus to the duodenum. Because of the efficacy and relative simplicity of VSG, it is preferred in the United States, with VSG currently at >61% of bariatric surgeries performed. Surprisingly, there has never been a complete molecular characterization of the human stomach greater curvature's fundus and corpus. Here we compare and contrast the molecular makeup of these regions. We performed a prospective cohort study to obtain gastric tissue samples from patients undergoing elective VSG. Paired fundus and corpus samples were obtained. Whole genome transcriptome analysis was performed by RNA sequencing (N = 10), with key findings validated by qPCR (N = 24). Participants were primarily female (95.8%) and White (79.15%). Mean body mass index, body weight, and age were 46.1 kg/m2, 121.6 kg, and 43.29 yr, respectively. Overall, 432 gene transcripts were significantly different between the fundus and the corpus (P < 0.05). A significant correlation was found between the RNA sequencing dataset and qPCR validation, demonstrating robust gene expression differences between the fundus and the corpus. Significant genes included progastricsin, acidic chitinase, and gastokine 1 and 2 in both the fundus and the corpus. Of the very highly expressed genes in both regions, 87% were present in both the stomach's fundus and corpus, indicating substantial overlap. Despite significant overlap in the greater curvature gene signature, regional differences exist within the fundus and the corpus. Given that the mechanism of VSG is partly unresolved, the potential that the resected tissue may express genes that influence long-term body weight regulation is unknown and could influence VSG outcomes.


Asunto(s)
Estómago/fisiología , Estómago/cirugía , Transcriptoma/genética , Adulto , Cirugía Bariátrica/métodos , Femenino , Gastrectomía/métodos , Perfilación de la Expresión Génica , Genoma Humano , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
11.
Plast Reconstr Surg ; 147(5): 1063-1069, 2021 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-33835105

RESUMEN

BACKGROUND: A deviated nose can be attributable to multiple anatomical factors, including asymmetric maxilla. A subalar graft helps to correct maxillary hypoplasia and may be a useful tool for correcting a deviated nose. The authors' objective is to show the effects of the subalar graft in improving nostril symmetry and to propose an algorithm for using this graft in open and endonasal rhinoplasty. METHODS: A retrospective case series was performed on patients who had undergone rhinoplasty performed by the senior author (R.W.) from September of 2008 to July of 2015. Patients with at least 3 months of follow-up and adequate photographs were included. The mean follow-up period was 11.0 months (range, 3 to 72 months). A total of 68 patients were included. Preoperative and postoperative photographs were analyzed to measure changes in nasal axis deviation, alar facial angle on base view, alar facial angle on frontal view, and nostril show bilaterally. RESULTS: Of the 68 patients, statistically significant improvement of nasal axis deviation of 4.32 degrees toward the midline was observed. Alar facial angle on base view was improved 1.01 degrees toward the horizontal. Nostril symmetry also improved based on the ratio between the shorter side and the longer side. The mean change in nostril show ratio was 0.19 toward a 1:1 ratio. CONCLUSIONS: Previous studies have shown that the subalar grafting technique is an important adjunctive technique in rhinoplasty for patients with midfacial asymmetries. This case series demonstrates that this technique can provide sustained results in the correction of the nasal foundation. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Asunto(s)
Cartílagos Nasales/trasplante , Nariz/anatomía & histología , Rinoplastia/métodos , Femenino , Humanos , Masculino , Estudios Retrospectivos
12.
Catheter Cardiovasc Interv ; 97(2): 201-205, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-32415916

RESUMEN

BACKGROUND: The healthcare burden posed by the coronavirus disease 2019 (COVID-19) pandemic in the New York Metropolitan area has necessitated the postponement of elective procedures resulting in a marked reduction in cardiac catheterization laboratory (CCL) volumes with a potential to impact interventional cardiology (IC) fellowship training. METHODS: We conducted a web-based survey sent electronically to 21 Accreditation Council for Graduate Medical Education accredited IC fellowship program directors (PDs) and their respective fellows. RESULTS: Fourteen programs (67%) responded to the survey and all acknowledged a significant decrease in CCL procedural volumes. More than half of the PDs reported part of their CCL being converted to inpatient units and IC fellows being redeployed to COVID-19 related duties. More than two-thirds of PDs believed that the COVID-19 pandemic would have a moderate (57%) or severe (14%) adverse impact on IC fellowship training, and 21% of the PDs expected their current fellows' average percutaneous coronary intervention (PCI) volume to be below 250. Of 25 IC fellow respondents, 95% expressed concern that the pandemic would have a moderate (72%) or severe (24%) adverse impact on their fellowship training, and nearly one-fourth of fellows reported performing fewer than 250 PCIs as of March 1st. Finally, roughly one-third of PDs and IC fellows felt that there should be consideration of an extension of fellowship training or a period of early career mentorship after fellowship. CONCLUSIONS: The COVID-19 pandemic has caused a significant reduction in CCL procedural volumes that is impacting IC fellowship training in the NY metropolitan area. These results should inform professional societies and accreditation bodies to offer tailored opportunities for remediation of affected trainees.


Asunto(s)
COVID-19/epidemiología , Cateterismo Cardíaco , Cardiología/educación , Educación de Postgrado en Medicina/organización & administración , Becas/organización & administración , Intervención Coronaria Percutánea/educación , Acreditación , Humanos , New Jersey , Ciudad de Nueva York , Ejecutivos Médicos , Encuestas y Cuestionarios
13.
J Craniofac Surg ; 31(8): 2243-2249, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33136864

RESUMEN

OBJECTIVE: To describe the osteoplastic approach and to perform a systematic review of the indications and outcomes of the osteoplastic flap procedure for frontal sinus surgeries with or without obliteration. DATA SOURCES: PubMed, Medline, Google Scholar, and Cochrane databases. REVIEW METHODS: All published studies in the English language on the osteoplastic flap with or without obliteration were identified from 1905 to 2018. All studies with <20 patients were excluded. The number of patients, technique, indications, follow-up period, symptom relief, revision rates, and complications were recorded and analyzed. RESULTS: A systematic review yielded 25 series containing 1374 patients for analysis. Indications for surgery included chronic frontal sinusitis, mucoceles, fractures or traumas, osteomas, neoplasms, and cerebrospinal fluid leak. The mean follow-up period ranged from 12.8 to 144 months. The percentage of patients needing revisions for frontal sinus disease was 6.2%. There was a high rate of symptomatic improvement (85.0%) and a low rate of major complications (0.7%). However, minor complications occurred in 19.4% of patients. CONCLUSION: The osteoplastic flap with or without obliteration has many indications. In an era where endoscopic technique provides excellent access to the frontal sinuses, external approaches remain a useful adjunct, and/or salvage technique. In experienced hands, the osteoplastic flap can yield excellent long-term clinical results, with low rates of complications. Regardless of the surgical approach, long-term follow-up is necessary due to the recurrent nature of frontal sinus disease.


Asunto(s)
Enfermedades de los Senos Paranasales/cirugía , Colgajos Quirúrgicos/cirugía , Humanos , Enfermedades de los Senos Paranasales/complicaciones , Procedimientos de Cirugía Plástica , Resultado del Tratamiento
14.
JMIR Res Protoc ; 9(2): e16267, 2020 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-32044756

RESUMEN

BACKGROUND: In the United States, among those living with mental illness, 81% of African American (AA) young adults do not seek treatment compared with 66% of their white counterparts. Although the literature has identified unique culturally related factors that impact help seeking among AAs, limited information exists regarding the development and evaluation of interventions that incorporate these unique factors. OBJECTIVE: This study aims to describe a study protocol designed to develop a culturally relevant, theory-based, psychoeducational intervention for AA young adults; to determine if exposure to the intervention impacts AA young adults' willingness to seek help; and to determine whether cultural factors and stigma add to the prediction of willingness to seek help. METHODS: The Theory of Planned Behavior (TPB) and Barrera and Castro's framework for cultural adaptation of interventions were used as guiding frameworks. In stage 1 (information gathering), a literature review and three focus groups were conducted to identify salient cultural beliefs. Using stage 1 results, the intervention was designed in stage 2 (preliminary adaptation design), and in stage 3 (preliminary adaptation tests), the intervention was tested using pretest, posttest, and 3-month follow-up surveys. An experimental, mixed methods, prospective one-group intervention design was employed, and the primary outcomes were participants' willingness and intention to seek help for depression and actual help-seeking behavior. RESULTS: This study was funded in May 2016 and approved by the University of Texas at Austin institutional review board. Data were collected from November 2016 to March 2016. Of the 103 students who signed up to participate in the study, 70 (67.9%) completed the pre- and posttest surveys. The findings are expected to be submitted for publication in 2020. CONCLUSIONS: The findings from this research are expected to improve clinical practice by providing empirical evidence as to whether a culturally relevant psychoeducational intervention is useful for improving help seeking among young AAs. It will also inform future research and intervention development involving the TPB and willingness to seek help by identifying the important factors related to willingness to seek help. Advancing this field of research may facilitate improvements in help-seeking behavior among AA young people and reduce the associated mental health disparities that apparently manifest early on. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/16267.

15.
J Natl Med Assoc ; 111(3): 231-232, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31230633

Asunto(s)
Racismo , Masculino
16.
18.
Ann Plast Surg ; 82(5): 565-569, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30557180

RESUMEN

OBJECTIVE: The aim of this study was to establish the anatomic basis for functional upper and lower lip reconstruction with locoregional flaps. DESIGN, SETTING, AND PARTICIPANTS: This article is an anatomic fresh cadaver study. RESULTS: For lower lip reconstruction, the modified Bernard-Webster and Karapandzic flaps preserve the modiolus, buccinator, zygomaticus major muscle, and buccal branches of the facial nerve. The Bernard-Webster flap allowed for a larger oral aperture despite a larger defect, but required transection of the lower lip depressors and orbicularis oris. For upper lip reconstruction, the reverse fan flap preserves the modiolus and its muscle attachments. The reverse Karapandzic flap required transection of the lower lip depressors, buccinator, and the zygomaticus major. CONCLUSIONS AND RELEVANCE: Locoregional flaps remain the workhorse for lip reconstruction. This study provides the anatomic basis for the modiolus and its muscular attachments that permit techniques such as the Bernard-Webster flap and the Karapanzic flap to achieve functional lip reconstruction with innervated and denervated tissue.


Asunto(s)
Labio/anatomía & histología , Labio/cirugía , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos , Cadáver , Músculos Faciales/cirugía , Nervio Facial/cirugía , Humanos
19.
Eur Neuropsychopharmacol ; 29(1): 156-170, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30503783

RESUMEN

Genome-wide association studies of case-control status have advanced the understanding of the genetic basis of psychiatric disorders. Further progress may be gained by increasing sample size but also by new analysis strategies that advance the exploitation of existing data, especially for clinically important quantitative phenotypes. The functionally-informed efficient region-based test strategy (FIERS) introduced herein uses prior knowledge on biological function and dependence of genotypes within a powerful statistical framework with improved sensitivity and specificity for detecting consistent genetic effects across studies. As proof of concept, FIERS was used for the first genome-wide single nucleotide polymorphism (SNP)-based investigation on bipolar disorder (BD) that focuses on an important aspect of disease course, the functional outcome. FIERS identified a significantly associated locus on chromosome 15 (hg38: chr15:48965004 - 49464789 bp) with consistent effect strength between two independent studies (GAIN/TGen: European Americans, BOMA: Germans; n = 1592 BD patients in total). Protective and risk haplotypes were found on the most strongly associated SNPs. They contain a CTCF binding site (rs586758); CTCF sites are known to regulate sets of genes within a chromatin domain. The rs586758 - rs2086256 - rs1904317 haplotype is located in the promoter flanking region of the COPS2 gene, close to microRNA4716, and the EID1, SHC4, DTWD1 genes as plausible biological candidates. While implication with BD is novel, COPS2, EID1, and SHC4 are known to be relevant for neuronal differentiation and function and DTWD1 for psychopharmacological side effects. The test strategy FIERS that enabled this discovery is equally applicable for tag SNPs and sequence data.


Asunto(s)
Trastorno Bipolar/diagnóstico , Trastorno Bipolar/genética , Predisposición Genética a la Enfermedad/genética , Adolescente , Adulto , Anciano , Trastorno Bipolar/fisiopatología , Trastorno Bipolar/psicología , Estudios de Casos y Controles , Femenino , Estudio de Asociación del Genoma Completo , Genotipo , Haplotipos , Humanos , Desequilibrio de Ligamiento/genética , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Polimorfismo de Nucleótido Simple/genética , Pronóstico , Escalas de Valoración Psiquiátrica , Población Blanca/genética , Adulto Joven
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