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Biomedical subjects

Catherine Carter

Publications and source records attributed to Catherine Carter.

6 recordsLinked to original sources

Genome-wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early-onset major depression and anxiety disorders.

Major depressive disorder (MDD) is a common, clinically heterogeneous disorder often found comorbid with other disorders. We studied recurrent, early-onset MDD (MDD-RE) and anxiety disorders in combination to define powerful phenotypes for genetic study. We used 87 large, extended Utah pedigrees to investigate linkage to 3 phenotypes: "MDD-RE;" "MDD-RE or anxiety;" and "MDD-RE and anxiety;" where in the latter definition the disorders must appear comorbid within an individual. Pedigrees ranged in size from 2 to 6 generations and contained 3 to 42 individuals affected with MDD or anxiety (718 total). In primary analyses, we identified three regions with at least suggestive genome-wide evidence for linkage on chromosomes 3centr, 7p, and 18q. Both 7p and 18q are replication findings for related phenotypes. The best linkage evidence was for a novel locus at 3p12.3-q12.3 (LOD = 3.88, "MDD-RE or anxiety") and 18q21.33-q22.2 (LOD = 3.75, "MDD-RE and anxiety"), a well-established susceptibility locus for bipolar disorder. In our secondary sex-specific analyses, we identified two further regions of interest on chromosomes 4q and 15q. Using linked pedigrees, we localized 3centr and 18q to 9.8 and 12.2 cM, respectively, with potential for further localization with the addition of markers in specific pedigrees. Our success in replication and novel locus identification illustrates the utility of large extended pedigrees for common disorders, such as MDD. Further, it supports the hypothesis that MDD and anxiety disorders have over-lapping genetic etiologies and suggests that comorbid diagnoses may be useful in defining more genetically homogeneous forms of MDD for linkage mapping.

Anxiety Disorders↗

Superiority of endovascular grafts compared to bare metal stents with transstent coil embolization for endovascular abdominal aortic aneurysm repair in patients at high risk for surgery.

We sought to determine the effectiveness of uncovered stents with aneurysm transstent coil embolization compared with endografts for percutaneous abdominal aortic aneurysm (AAA) repair. Thirty-six patients with AAA considered inoperable underwent endovascular repair using the Ancure bifurcated endograft or overlapping uncovered stents with transstent coil embolization. Procedural success, outcomes, serial aneurysm size, aneurysm blood flow, and growth ratios were compared between groups. One patient in each group died due to the procedure and two patients in the endograft cohort required acute surgical repair. After 2.0 +/- 0.8 years of follow-up, three patients required endograft placement, four surgical repair, three had AAA rupture, with two AAA-related deaths in the uncovered stent group. No late deaths or surgical conversion occurred in the endograft group. The primary AAA flow exclusion and aneurysm expansion rate and growth were superior in the endograft group and during follow-up. In high-risk patients with AAA, the use of endografts was superior compared to uncovered stents with transstent coil embolization for endovascular repair.

Aged↗

Comparison of intracardiac echocardiography versus transesophageal echocardiography guidance for percutaneous transcatheter closure of atrial septal defect.

Transcatheter closure of interatrial septal defects is guided by transesophageal echocardiography (TEE), which requires general anesthesia in most cases. Using a new intracardiac echocardiographic (ICE) catheter may avoid endotracheal and esophageal intubation while using only local anesthesia. Forty-two patients underwent transcatheter interatrial septal defect closure; half of them underwent TEE guidance with general anesthesia and the other half underwent ICE guidance with local anesthesia. Device deployment success rate, adequate 2-dimensional and Doppler visualization of the defect and deployment steps, interatrial communication closure at 24 hours, and at 3 and 6 months, procedure time length, complications, fluoroscopic time, and length of hospitalization were compared between both methods. All interventions were completed successfully with no complications, except for 1 patient in the TEE group who had a minor oral trauma. Echocardiographic visualization of the septal defect and deployment was adequate by both methods. Catheterization laboratory time (92 +/- 18 vs 50 +/- 12 minutes, p <0.001) and interventional procedure length (47 +/- 8 vs 35 +/- 6 minutes, p <0.001) were shortened using ICE. There was no difference in the rate of closure after 6-month follow-up by either method. ICE guidance offers equivalent echocardiographic views compared with TEE and similar rates of closure. ICE is associated with decreased procedure length while eliminating the risks of endotracheal or esophageal intubation and general anesthesia.

Balloon Occlusion↗

Interatrial defect sizing by intracardiac and transesophageal echocardiography compared with fluoroscopic measurements in patients undergoing percutaneous transcatheter closure.

The purpose of this study was to evaluate prospectively the feasibility and accuracy of using echocardiographic measurements by transesophageal and intracardiac echocardiography (TEE and ICE, respectively) for interatrial septal defect sizing during percutaneous transcatheter closure. Forty-two patients underwent balloon sizing of interatrial septal defects using TEE in 21 of them and ICE in the other half. These measurements were correlated with quantitative fluoroscopic analysis and evaluated for bias and agreement between methods using a Bland-Altman analysis. Echocardiographic measurements were obtained by ICE and TEE in all patients. An excellent correlation was found between TEE and quantitative fluoroscopy (r = 0.898; P < 0.001) and between ICE and quantitative fluoroscopy (r = 0.876; P < 0.001), with a significant agreement (P < 0.001) and minimal positive bias toward the echocardiographic measurements. Both TEE and ICE are excellent methods of interatrial defect sizing when compared with quantitative fluoroscopic measurements.

Angioplasty, Balloon, Coronary↗

Predisposition locus for major depression at chromosome 12q22-12q23.2.

Major depression disorder is a common psychiatric disease with a major economic impact on society. In many cases, no effective treatment is available. The etiology of major depression is complex, but it is clear that the disease is, to a large extent, determined genetically, especially among individuals with a familial history of major depression, presumably through the involvement of multiple predisposition genes in addition to an environmental component. As a first step toward identification of chromosomal loci contributing to genetic predisposition to major depression, we have conducted a genomewide scan by using 628 microsatellite markers on 1,890 individuals from 110 Utah pedigrees with a strong family history of major depression. We identified significant linkage to major depression in males at marker D12S1300 (multipoint heterogeneity LOD score 4.6; P=.00003 after adjustment for multiple testing). With additional markers, the linkage evidence became highly significant, with the multipoint heterogeneity LOD score at marker D12S1706 increasing to 6.1 (P=.0000007 after adjustment for multiple testing). This study confirms the presence of one or more genes involved in psychiatric diseases on the q arm of chromosome 12 and provides strong evidence for the existence of a sex-specific predisposition gene to major depression at 12q22-q23.2.

Chromosome Mapping↗