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2.
J Arthroplasty ; 39(3): 658-664, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37717836

RESUMEN

BACKGROUND: Obesity is considered a modifiable risk factor prior to total knee arthroplasty (TKA); however, little data support this hypothesis. Our purpose was to evaluate patients who have a body mass index (BMI) >40 presenting for TKA to determine the incidence of: (1) patients who achieved successful weight loss through nutritional modification or bariatric surgery and (2) patients who underwent TKA over the study period without the presence of a formal optimization program. METHODS: This was a retrospective, single-center analysis. Inclusion criteria included: Kellgren and Lawrence grade 3 or 4 knee osteoarthritis, BMI >40 at presentation, and minimum 1-year follow-up (mean 45 months) (N = 624 patients). Demographics, weight loss interventions, pursuit of TKA, maximum BMI change, and Patient-Reported Outcomes Measurement Information System scores were collected. Multivariable logistic and linear regressions evaluated associations of underlying demographic and treatment characteristics with outcomes. RESULTS: There were 11% of patients who ended up pursuing TKA over the study period. Bariatric surgery was 3.7 times more likely to decrease BMI by minimum 10 compared to nonsurgical intervention (95% confidence interval [CI] [1.7, 8.1]; P = .001). Bariatric surgery resulted in mean BMI change of -3.3 (range, 0 to 22) compared to nonsurgical interventions (-2.6 [range, 0 to 12]) and no intervention (0.4 [range, 0 to 15]; P < .0001). Bariatric surgery patients were 3.1 times more likely to undergo TKA (95% CI [1.3, 7.1]; P = .008), and nonsurgical interventions were 2.4 times more likely to undergo TKA (95% CI [1.3, 4.5]; P = .006) compared to no intervention. Non-White patients across all interventions were less likely to experience loss >5 BMI compared to White patients (95% CI [0.2, 0.9]; P = .018). CONCLUSIONS: Most patients were unable to reduce BMI more than 5 to 10 over a mean 4-year period without a formal weight optimization program. Utilization of bariatric surgery was most successful compared to nonsurgical interventions, although ultimate pursuit of TKA remained low in all cohorts.


Asunto(s)
Obesidad Mórbida , Osteoartritis de la Rodilla , Humanos , Osteoartritis de la Rodilla/epidemiología , Osteoartritis de la Rodilla/etiología , Osteoartritis de la Rodilla/cirugía , Estudios Retrospectivos , Obesidad Mórbida/complicaciones , Obesidad Mórbida/cirugía , Pérdida de Peso , Factores de Riesgo
3.
JBJS Rev ; 10(6)2022 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-35727992

RESUMEN

➢ The economics of transitioning total joint arthroplasty (TJA) to standalone ambulatory surgery centers (ASCs) should not be capitalized on at the expense of patient safety in the absence of established superior patient outcomes. ➢ Proper patient selection is essential to maximizing safety and avoiding complications resulting in readmission. ➢ Ambulatory TJA programs should focus on reducing complications frequently associated with delays in discharge. ➢ The transition from hospital-based TJA to ASC-based TJA has substantial financial implications for the hospital, payer, patient, and surgeon.


Asunto(s)
Artroplastia de Reemplazo , Pacientes Ambulatorios , Procedimientos Quirúrgicos Ambulatorios , Extremidades , Humanos , Alta del Paciente
4.
Arthroplast Today ; 6(4): 830-834, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33020735

RESUMEN

Total knee arthroplasty (TKA) in the setting of previous hip fusion is rare with a paucity of evidence in the orthopaedic literature. Traditionally, TKA is performed supine, with the aid of knee-positioning devices allowing for hip flexion and range of motion of the knee to facilitate ease of surgical intervention. However, TKA using traditional positioning would not be possible in the presence of ipsilateral hip arthrodesis preventing hip motion. This case report describes a TKA performed for a 72-year-old woman with end-stage osteoarthritis of the right knee, ipsilateral hip arthrodesis, and leg-length discrepancy as the sequelae of slipped capital femoral epiphysis. We describe novel surgical positioning to be used to facilitate TKA in the absence of ipsilateral hip motion with bed modifications and the use of an extremity positioning device.

5.
J Arthroplasty ; 35(10): 2899-2903, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32507563

RESUMEN

BACKGROUND: The present study examines Patient Reported Outcomes Measurement Information System (PROMIS) Computer Adaptive Test (CAT) scores for domains of physical function (PF) and pain interference (PI) in patients undergoing elective THA from either a direct anterior or posterior surgical approach. METHODS: A total of 1358 patients who underwent THA at our institution from 1/1/2015 to 12/1/2018 were identified. Visual analog scale (VAS) pain scores, PROMIS CAT PF and PI data were collected at the last preoperative visit as well as 6 weeks, 6 months, and 1-2 years postoperatively. Literature-derived minimum clinically important difference (MCID) for PROMIS CAT PF metric with regard to THA was used for data comparison. RESULTS: Four hundred nine patients were included in the final analysis. Fifty-one percent underwent a posterior approach, and 49% underwent a direct anterior approach. Both approaches led to a significant improvement in PROMIS CAT PF and PI scores. Patients undergoing a direct anterior approach had significantly higher preoperative and postoperative PROMIS CAT PF scores as well as significantly lower preoperative PROMIS CAT PI scores. Each approach yielded similar interval improvements of PROMIS CAT PF and PI. One hundred three direct anterior approach THA patients (51%) and 119 posterior approach THA patients (57.5%) achieved PROMIS PF MCID at 1- to 2-year follow-up. CONCLUSION: Neither the direct anterior nor posterior THA surgical approach conferred an advantage to postoperative improvements of PROMIS CAT PF and PI scores. Adult reconstructive surgeons should continue to execute the direct anterior or posterior THA surgical approaches based upon personal preference. Despite surgeon confidence in THA, the potential for further innovation exists given the number of THA patients who failed to achieve PROMIS PF MCID.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Adulto , Artroplastia de Reemplazo de Cadera/efectos adversos , Computadores , Humanos , Sistemas de Información , Dolor , Medición de Resultados Informados por el Paciente
6.
Spine Deform ; 8(1): 17-24, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31925764

RESUMEN

STUDY DESIGN: Observational study. OBJECTIVE: To evaluate the online ratings of spine deformity surgeons and variables that may affect online ratings Physician review websites (PRW) continue to be an emerging trend in the US across all specialties. Previous literature with smaller sample sizes revealed that most spine surgeons are rated on at least on PRW. To date, the online ratings of spinal deformity surgeons have not been evaluated. MATERIALS AND METHODS: A review of the 2017 Scoliosis Research Society (SRS) Fellowship directory for active fellows and candidate members yielded 634 active members. Online ratings from five PRWs were recorded and scaled from 0 to 100. Using SPSS, one-way analysis of variance was used to compare differences between multiple groups. A t test was used to compare differences between two groups. Significance was set at p < 0.05. RESULTS: Most surgeons (98.7%) were rated on at least one PRW. Surgeons in academic or hospital practice had higher ratings than those in private practice (83.4 vs. 78.8, and 83.7 vs. 78.8, p < 0.001). Surgeons with 0-5-year experience had higher ratings than more experienced surgeons (p < 0.001). However, surgeons in practice for 0-5 years also had fewer reviews than their more experienced colleagues (p < 0.05). We found no differences in ratings based on sex, specialty, or region. The largest differences in ratings between high and poorly rated spine surgeons was in areas pertaining to the doctor-patient relationship (answering questions, time spent with the patient). CONCLUSION: The majority (98.7%) of SRS surgeons are rated on at least one PRW. SRS surgeons in practice between 0 and 5 years have higher ratings than more experienced surgeons, but were rated by fewer patients than their more experienced counterparts. Higher ratings were associated with variables pertaining to the patient-doctor relationship. LEVEL OF EVIDENCE: IV.


Asunto(s)
Competencia Clínica/normas , Internet , Cifosis/cirugía , Procedimientos Ortopédicos/normas , Cirujanos Ortopédicos/normas , Relaciones Médico-Paciente , Calidad de la Atención de Salud/normas , Escoliosis/cirugía , Columna Vertebral/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Satisfacción del Paciente , Práctica Profesional , Estados Unidos
7.
J Am Acad Orthop Surg Glob Res Rev ; 4(9): e20.00082-6, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-33939396

RESUMEN

INTRODUCTION: Infection is a challenging complication after total knee arthroplasty (TKA) that is often treatable. However, recurrent infection may require resection, amputation, or arthrodesis. The purpose of this study was to evaluate the results of antegrade nailing with an intramedullary rod for the treatment of a chronically infected TKA. METHODS: This study was a retrospective review of a consecutive series of 18 patients with chronically infected TKA treated with arthrodesis using a long antegrade intramedullary nail. There were 11 women and 7 men with an average age of 65 years and average body mass index of 33.8 kg/m. Patients had an average of 7.4 procedures before fusion, and mean follow-up was 50 months. One patient died in the early postoperative period, leaving 17 patients for evaluation. Fusion was defined radiographically as bony bridging of the joint surfaces visible on both anterior-posterior and lateral radiographs. Ambulatory ability, need for chronic antibiotic suppression, complications, and nail removal were recorded. RESULTS: Sixteen of 17 patients (94%) underwent successful fusion. Ten of 17 patients (59%) continued to ambulate with 9 of these patients requiring an assist device and 7 of 17 patients (41%) predominantly used a wheelchair. Chronic antibiotic suppression was used in 13 of 17 patients (76%). Two patients required nail removal (one for pseudarthrosis and one for possible total hip arthroplasty) and overall 8 of 17 patients (47%) had a complication. Six of 18 patients (33%) died within 2 years of their fusion procedure. DISCUSSION: Knee arthrodesis with an antegrade intramedullary nail is a viable treatment option for the chronically infected TKA. There was a high rate of successful fusion, along with a high rate of complications, mortality, and need for chronic antibiotic suppression. CONCLUSION: Knee arthrodesis with a long IMN is a suitable treatment method as salvage for a chronically infected TKA, but patients should be counseled on the high rate of postoperative complications, poor ambulatory rate, likely need for suppressive antibiotics, and high mortality rate.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Infecciones Relacionadas con Prótesis , Anciano , Artrodesis/efectos adversos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Clavos Ortopédicos , Femenino , Humanos , Masculino , Infecciones Relacionadas con Prótesis/cirugía , Reoperación , Estudios Retrospectivos
8.
Health Aff (Millwood) ; 38(2): 190-196, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30715982

RESUMEN

The Comprehensive Care for Joint Replacement (CJR) model introduced in 2016 aims to improve the quality and costs of care for Medicare beneficiaries undergoing hip and knee replacements. However, there are concerns that the safety-net hospitals that care for the greatest number of vulnerable patients may perform poorly in CJR. In this study we used Medicare's CJR data to evaluate the performance of 792 hospitals mandated to participate in the first year of CJR. We found that in comparison to non-safety-net hospitals, 42 percent fewer safety-net hospitals qualified for rewards based on their quality and spending performance (33 percent of safety-net hospitals qualified, compared to 57 percent of non-safety-net hospitals), and safety-net hospitals' rewards per episode were 39 percent smaller ($456 compared to $743). Continuation of this performance trend could place safety-net hospitals at increased risk of penalties in future years. Medicare and hospital strategies such as those that reward high-quality care for vulnerable patients could enable safety-net hospitals to compete effectively in CJR.


Asunto(s)
Artroplastia de Reemplazo/economía , Atención Integral de Salud/economía , Hospitales/estadística & datos numéricos , Garantía de la Calidad de Atención de Salud , Proveedores de Redes de Seguridad , Femenino , Administración Financiera de Hospitales/organización & administración , Humanos , Reembolso de Seguro de Salud/economía , Masculino , Medicare/economía , Medicare/estadística & datos numéricos , Motivación , Garantía de la Calidad de Atención de Salud/economía , Garantía de la Calidad de Atención de Salud/estadística & datos numéricos , Proveedores de Redes de Seguridad/economía , Proveedores de Redes de Seguridad/organización & administración , Estados Unidos
9.
Health Serv Res ; 53(6): 4381-4402, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30022482

RESUMEN

OBJECTIVE: To determine whether Medicare's Nonpayment Program was associated with decline in venous thromboembolism (VTE) following hip and knee replacements; and whether the decline was greater among hospitals at risk of larger financial losses from the Program. DATA SOURCES: State Inpatient Database for New York (NY) from 2005 to 2013. STUDY DESIGN: The primary outcome was an occurrence of VTE. Medicare Utilization Ratio (MUR), which is the proportion of inpatient days in a hospital that is financed by Medicare, represented a hospital's financial sensitivity. We used hierarchical logistic regressions with difference-in-differences estimation to study the Program effects. PRINCIPAL FINDINGS: A total of 98,729 hip replacement and 111,361 knee replacement stays were identified. For hip replacement, the Program was associated with significant reduction (Range: 44% to 53%) in VTE incidence among hospitals in MUR quartiles 2 to 4. For knee replacement, the Program was associated with significant reduction (47%) in VTE incidence only among quartile 2 hospitals. CONCLUSION: Implementation of the Program was associated with a reduction in VTE, especially for hip replacements, in higher MUR hospitals. Payment reforms such as Medicare's Nonpayment Program that withhold payments for complications are effective and should be continued.


Asunto(s)
Artroplastia de Reemplazo de Cadera/efectos adversos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Medicare/economía , Mecanismo de Reembolso/economía , Tromboembolia Venosa/epidemiología , Anciano , Artroplastia de Reemplazo de Cadera/métodos , Artroplastia de Reemplazo de Rodilla/métodos , Femenino , Hospitales , Humanos , Cobertura del Seguro/economía , Masculino , Modelos Estadísticos , New York , Estados Unidos , Tromboembolia Venosa/etiología
10.
Curr Rev Musculoskelet Med ; 9(1): 84-92, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26830851

RESUMEN

Hip resurfacing arthroplasty (HRA) is an alternative to conventional, stemmed total hip arthroplasty (THA). The best reported results are young, active patients with good bone stock and a diagnosis of osteoarthritis. Since the 1990s, metal-on-metal (MoM) HRA has achieved excellent outcomes when used in the appropriate patient population. Concerns regarding the metal-on-metal bearing surface including adverse local tissue reaction (ALTR) to metal debris have recently lead to a decline in the use of this construct. The current paper aims to provide an updated review on HRA, including a critical review of the most recent literature on HRA.

11.
Orthopedics ; 37(4): e339-44, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24762837

RESUMEN

At the authors' institution, some joint arthroplasty surgeons require the operating room to be terminally cleaned before using the room after infected cases, in theory to decrease exposure to excessive microbial contamination for the subsequent patient. The authors found no guidance in the literature to support this practice. To test this theory, the authors measured microbial surface contamination from 9 surfaces in operating rooms after standard operating room turnover following 14 infected cases vs 16 noninfected cases. A check was made for an association between organisms isolated intraoperatively from infected surgical patients immediately preceding standard cleaning and organisms isolated from common operating room surfaces. Colony counts were made at 24 and 48 hours, and organisms were identified. No significant difference was noted in colony counts between infected and noninfected cases, and no relationship was found between organisms isolated from infected cases and those from operating room surfaces. Furthermore, the largest colony count from both groups (0.08 cfu/cm(2)) was an order of magnitude less than the recently proposed 5 cfu/cm(2) threshold for surface hygiene in hospitals. This finding indicates that standard operating room turnover results in minimal surface contamination, regardless of the previous case's infection status, and that there is no need for a more extensive terminal cleaning after an infected case.


Asunto(s)
Contaminación de Equipos , Control de Infecciones/normas , Infecciones/cirugía , Quirófanos/normas , Humanos
12.
Am J Surg ; 197(4): 525-32, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19324111

RESUMEN

BACKGROUND: Digital rectal examination (DRE) skills are difficult to teach and assess. This study sought to assess the construct validity of newly developed DRE simulators, which were then used to evaluate DRE palpation techniques and accuracy based on experience. METHODS: Medical students (n = 30), residents (n = 24), and experienced clinicians (n = 24) performed clinical DREs on the simulators and documented their findings. During the examinations, computer-generated quantitative performance data were collected. RESULTS: Students focused more on pronating and supinating their examining finger in the rectum. In addition, students were less accurate when assessing the prostate gland compared with experienced clinicians and residents (students = 33%, residents = 64%, and clinicians = 76%; P <.05. CONCLUSIONS: The DRE simulators were useful in defining specific differences in clinical DRE palpation techniques based on experience. We believe the observed differences are largely caused by students' misconceptions about how to perform the DRE.


Asunto(s)
Tacto Rectal/métodos , Educación de Pregrado en Medicina , Cirugía General/educación , Actitud del Personal de Salud , Competencia Clínica , Educación Basada en Competencias , Simulación por Computador , Evaluación Educacional , Humanos , Modelos Anatómicos , Palpación , Estudiantes de Medicina/psicología , Materiales de Enseñanza
13.
Biol Psychiatry ; 60(9): 929-35, 2006 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-16814263

RESUMEN

BACKGROUND: The disruption of the disrupted-in-schizophrenia (DISC1) gene segregates with major mental illnesses in a Scottish family. Association of DISC1 with schizophrenia has been reported in several ethnic groups, and now recently with mood disorder. METHODS: A family-based association study of DISC1 and bipolar disorder (BP) in 57 bipolar pedigrees was conducted. Then, we examined possible association of bipolar disorder with DISC1 mRNA expression in human lymphoblasts. We also studied the correlation of several clinical features with the levels of DISC1 mRNA expression. RESULTS: Haplotype analysis identified one haplotype (HP1) that was overtransmitted to the BP phenotype (p = .01) and a second haplotype that was undertransmitted (HP2). There was a gender influence in the transmission distortion, with overtransmission of HP1 to affected females (p = .004). A significant decrease in DISC1 mRNA expression was observed in lymphoblasts from affected HP1 group compared to those from unaffected subjects with the HP2 (p = .006). Further, a higher number of manic symptoms correlated with lower levels of DISC1 expression (p = .008). CONCLUSIONS: These results suggest that decreased mRNA levels of DISC1 expression, associating with the risk haplotype, may be implicated in the pathophysiology of bipolar disorder.


Asunto(s)
Trastorno Bipolar/genética , Expresión Génica/fisiología , Proteínas del Tejido Nervioso/genética , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Linaje , Polimorfismo de Nucleótido Simple/genética , ARN Mensajero/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos
14.
Proc Natl Acad Sci U S A ; 102(24): 8627-32, 2005 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-15939883

RESUMEN

Disrupted-in-schizophrenia 1 (DISC1) is a promising schizophrenia candidate gene expressed predominantly within the hippocampus. We typed 12 single-nucleotide polymorphisms (SNPs) that covered the DISC1 gene. A three-SNP haplotype [hCV219779 (C)-rs821597 (G)-rs821616 (A)] spanning 83 kb of the gene was associated with schizophrenia in a family-based sample (P = 0.002). A common nonconservative SNP (Ser704Cys) (rs821616) within this haplotype was associated with schizophrenia (P = 0.004). Based on primary expression of DISC1 in hippocampus, we hypothesized that allelic variation at Ser704Cys would have a measurable impact on hippocampal structure and function as assayed via specific hippocampus-related intermediate phenotypes. In addition to overtransmission in schizophrenia, the Ser allele was associated with altered hippocampal structure and function in healthy subjects, including reduced hippocampal gray matter volume and altered engagement of the hippocampus during several cognitive tasks assayed with functional magnetic resonance imaging. These convergent data suggest that allelic variation within DISC1, either at Ser704Cys or haplotypes monitored by it, increases the risk for schizophrenia and that the mechanism of this effect involves structural and functional alterations in the hippocampal formation.


Asunto(s)
Alelos , Hipocampo/anatomía & histología , Hipocampo/fisiología , Proteínas del Tejido Nervioso/genética , Esquizofrenia/genética , Adulto , Negro o Afroamericano , Femenino , Haplotipos/genética , Hipocampo/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Proteínas del Tejido Nervioso/metabolismo , Polimorfismo de Nucleótido Simple/genética , Desempeño Psicomotor/fisiología , Factores de Riesgo , Población Blanca
15.
Proc Natl Acad Sci U S A ; 101(34): 12604-9, 2004 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-15310849

RESUMEN

GRM3, a metabotropic glutamate receptor-modulating synaptic glutamate, is a promising schizophrenia candidate gene. In a family-based association study, a common GRM3 haplotype was strongly associated with schizophrenia (P = 0.0001). Within this haplotype, the A allele of single-nucleotide polymorphism (SNP) 4 (hCV11245618) in intron 2 was slightly overtransmitted to probands (P = 0.02). We studied the effects of this SNP on neurobiological traits related to risk for schizophrenia and glutamate neurotransmission. The SNP4 A allele was associated with poorer performance on several cognitive tests of prefrontal and hippocampal function. The physiological basis of this effect was assessed with functional MRI, which showed relatively deleterious activation patterns in both cortical regions in control subjects homozygous for the SNP4 A allele. We next looked at SNP4's effects on two indirect measures of prefrontal glutamate neurotransmission. Prefrontal N-acetylaspartate, an in vivo MRI measure related to synaptic activity and closely correlated with tissue glutamate, was lower in SNP4 AA homozygotes. In postmortem human prefrontal cortex, AA homozygotes had lower mRNA levels of the glial glutamate transporter EAAT2, a protein regulated by GRM3 that critically modulates synaptic glutamate. Effects of SNP4 on prefrontal GRM3 mRNA and protein levels were marginal. Resequencing revealed no missense or splice-site SNPs, suggesting that the intronic SNP4 or related haplotypes may exert subtle regulatory effects on GRM3 transcription. These convergent data point to a specific molecular pathway by which GRM3 genotype alters glutamate neurotransmission, prefrontal and hippocampal physiology and cognition, and thereby increased risk for schizophrenia.


Asunto(s)
Cognición/fisiología , Glutamatos/metabolismo , Corteza Prefrontal/metabolismo , Receptores de Glutamato Metabotrópico/metabolismo , Esquizofrenia/metabolismo , Adulto , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Hipocampo/anatomía & histología , Hipocampo/metabolismo , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Pruebas Neuropsicológicas , Fenotipo , Receptores de Glutamato Metabotrópico/genética , Análisis de Secuencia de ADN
16.
Biol Psychiatry ; 55(10): 976-80, 2004 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-15121480

RESUMEN

BACKGROUND: Childhood-onset schizophrenia (COS), defined as onset of psychotic symptoms by age 12 years, is a rare and severe form of the disorder that seems to be clinically and neurobiologically continuous with the adult disorder. METHODS: We studied a rare cohort consisting of 98 probands; 71 of these probands received a DSM-defined diagnosis of schizophrenia, and the remaining 27 were diagnosed as psychosis not otherwise specified (NOS) (upon 2-6 year follow-up, 13 have subsequently developed bipolar disorder). Two overlapping genes, G72 and G30 on 13q33.2, were identified through linkage-disequilibrium-based positional cloning. Single nucleotide polymorphisms (SNPs) at the G72/G30 locus were independently associated with both bipolar illness and schizophrenia. We analyzed SNPs at this locus with a family-based transmission disequilibrium test (TDT) and haplotype analyses for the discrete trait, as well as quantitative TDT for intermediate phenotypes, using the 88 probands (including COS and psychosis-NOS) with parental participation. RESULTS: We observed significant pairwise and haplotype associations between SNPs at the G72/G30 locus and psychotic illness. Furthermore, these markers showed associations with scores on a premorbid phenotype measured by the Autism Screening Questionnaire, and with age of onset. CONCLUSIONS: These findings, although limited by potential referral bias, confirm and strengthen previous reports that G72/G30 is a susceptibility locus both for schizophrenia and bipolar disorder.


Asunto(s)
Proteínas Portadoras/genética , Cromosomas Humanos Par 13 , Polimorfismo de Nucleótido Simple , Trastornos Psicóticos/genética , Esquizofrenia Infantil/genética , Edad de Inicio , Niño , Mapeo Cromosómico , Estudios de Cohortes , Salud de la Familia , Estudios de Seguimiento , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Péptidos y Proteínas de Señalización Intracelular , Desequilibrio de Ligamiento , Reacción en Cadena de la Polimerasa/métodos , Escalas de Valoración Psiquiátrica , Encuestas y Cuestionarios
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