Patients Of Other Ethnicities Research Articles

Udenafil: efficacy and tolerability in the management of erectile dysfunction

Udenafil is a potent novel phosphodiesterase-5 inhibitor approved for use in Korea. Udenafil has unique properties, with a T max of 1.0-1.5 h and a T 1/2 of 11-13 h (a relatively rapid onset and a long duration of action). Therefore, both on-demand and once-daily use of udenafil have been reported. Udenafil's efficacy and tolerability have been evaluated in several studies, and recent and continuing studies have demonstrated udenafil's promise in both dosing regimens. Presently, tadalafil is the only FDA-approved drug for daily dosing, but udenafil can be used as a once-daily dose for erectile dysfunction patients who cannot tolerate tadalafil due to phosphodiesterase subtype selectivity. Udenafil as an on-demand or once-daily dose is effective and tolerable, but more studies are needed in patients of other ethnicities and with comorbid conditions such as diabetes mellitus, hypertension, and benign prostate hyperplasia.

The Heart of the Matter: An Echocardiographic Evaluation of Inflammatory Bowel Disease

Purpose: Inflammatory bowel disease (IBD) is a systemic affliction. Several case reports have linked pericardial tamponade and pericarditis to IBD and some suggest that cardiovascular disease (CVD) may be one of the extraintestinal manifestations (EIM) of IBD. Little attention has been paid toward the study of CVD in IBD patients from an echocardiographic perspective. The aim of our study is to survey for such abnormalities in both Crohn's (CD) and Ulcerative Colitis (UC) as well as being among the first to report such findings in a predominantly black population, an often underreported IBD group. Methods: With IRB approval, we conducted a retrospective cohort study, from January 2000 to December 2010. IBD patients (both inpatients and those seen in clinic) were collected by ICD-9 code and were analyzed for whether or not an echocardiogram was conducted, echocardiogram indication and findings, demographics and IBD history. Patients under 18 were excluded. If a patient had more than one echocardiogram performed, only the first study was included in our analysis. Results: Forty out of 294 IBD patients had an echocardiogram performed. Thirty-six patients were black (28 being Afro-Caribbean). Twenty-two patients were women. Fifteen patients had CD. Twenty-two patients had exposure to steroids. Seven patients had exposure to immunomodulators. Thirteen patients had exposure to tobacco. Mean age and duration of IBD at time of echocardiogram was 51.5 and 9.3 years, respectively. Twenty patients had EIM's. See Tables 1 and 2 for indications and echocardiogram findings.Table 1: Indication for echocardiogram ( N =40)Table 2: Echocardiographic findings ( N =40)Conclusion: When it was observed that patients with rheumatoid arthritis had a high incidence of heart failure, further investigation led to findings of a lower left ventricular mass and increased end diastolic volume. In an Italian study from 2007, 69% of CD patients had morphologic alterations. Our study affirms the importance of echocardiography in the evaluation of autoimmune disease, such as IBD. While no large-sized effusions or severe valvulopathies were appreciated in our patients, it is well established that other imaging modalities such as cardiac MRI or cardiac PET-CT have better performance in detecting early cardiovascular abnormalities. Perhaps more significant findings could have been observed if the above were used. Given our small sample size, adjusting for cardiac risk factors (e.g. diabetes, family history) was not done but could be remedied with larger scale investigations. Despite our patient population's homogeneity being one of the study's strengths, it is also means results will lack generalizability if applied to patients of other ethnicities. Finally, whether the 86% of our IBD patients who did not receive an echo needed to have CVD screening is a subject of debate. Disclosure: Dr Frank Gress - Novartis, Speakers Bureau. Dr Charles Koczka - none. Dr David Lee - none.

Ethnic differences in arm vein diameter and arteriovenous fistula creation rates in men undergoing hemodialysis access

The National Kidney Foundation recommends that arteriovenous fistulas (AVFs) be placed in at least 65% of hemodialysis patients. Some studies suggest that African American patients are less likely to receive a first-time AVF than patients of other ethnicities, although the reason for this disparity is unclear. The purpose of our study is to determine (1) whether there are ethnic differences in AVF creation, (2) whether this may be related to differences in vein diameters, and (3) whether AVF patency rates are similar between African American and non-African American male patients. Consecutive male patients undergoing first-time hemodialysis access from 2006 to 2010 at two institutions were retrospectively reviewed. Data collected included age, ethnicity, weight, height, body mass index, diabetes, hypertension, congestive heart failure, smoking history, intravenous drug abuse, need for temporary access placement, and preoperative venous ultrasound measurements. Categoric variables were compared using χ(2) analysis, and the Wilcoxon rank-sum test was used to compare continuous variables. Of 249 male patients identified, 95 were African American. Median age in African American and non-African American patients was 63 years. Hypertension and hyperlipidemia were statistically significantly greater in African American patients. The need for temporary access before hemoaccess was similar between the cohorts. African American patients demonstrated significantly smaller median basilic and cephalic vein diameters at most measured sites. Overall, 221 of 249 (88.8%) underwent AVF first. An AV graft was created in 17.9% of African American patients vs in only 7.1% of non-African Americans (odds ratio, 2.8; 95% confidence interval, 1.3-6.4; P = .009). The difference between median vein diameters used for autologous fistula creation in African American and non-African American patients was not significant. There was no significant difference in the primary patency (80.8% vs 76.2%; P = .4), primary functional patency (73.1% vs 69.2%; P = .5), or secondary functional patency rates (91.0% vs 96.5%; P = .1). Average primary fistula survival time was 257 days in African American and 256 in non-African American patients (P = .2). African American patients are less likely than non-African American patients to undergo AVF during first-time hemodialysis access surgery. This ethnic discrepancy appears to be due to smaller arm vein diameters in African American patients. In African American patients with appropriate vein diameters who do undergo AVF, primary and functional patencies are equivalent to non-African American patients.

Outcome disparities in multiple myeloma: a SEER‐based comparative analysis of ethnic subgroups

Studies of ethnic disparities in malignancies have revealed variation in clinical outcomes. In multiple myeloma (MM), previous literature has focused only on patients of Caucasian and African-American (AA) descent. We present a Surveillance Epidemiology and End Results (SEER)-based outcome analysis of MM patients from a broader range of ethnicities, representing current United States demographics. The SEER 17 Registry data was utilized to analyse adult MM patients diagnosed since 1992 (n = 37,963), as patients of other ethnicities were not well represented prior to that. Overall survival (OS) and myeloma-specific survival (MSS) were compared across different ethnicities stratified by year of diagnosis, registry identification, age, sex and marital-status. Hispanics had the youngest median age at diagnosis (65 years) and Whites had the oldest (71 years) (P < 0·001). Increased age at diagnosis was an independent predictor of decreased OS and MSS. Asians had the best median OS (2·7 years) and MSS (4·1 years), while Hispanics had the worst median OS (2·4 years). These trends were more pronounced in patients ≥ 75 years. Cumulative survival benefit over successive years was largest among Whites (1·3 years) and smallest among Asians (0·5 years). These disparities may be secondary to multifactorial causes that need to be explored and should be considered for optimal triaging of healthcare resources.

Fracture risk assessment and osteoporosis treatment disparities in 3,970 Japanese patients with rheumatoid arthritis

The aims of this study are to determine the proportion of patients at high risk for major osteoporotic and hip fractures in a Japanese cohort with rheumatoid arthritis (RA) and to determine if a care gap exists for high-risk patients. The Fracture Risk Assessment Tool (FRAX®) was administered to 3,970 Japanese patients with RA enrolled in the Institute of Rheumatology Rheumatoid Arthritis cohort study with (n=276) and without (n=3,694) the use of bone mineral density (BMD) measurement. The study population had a mean age of 62 years and was 84% female. Among the 1,522 patients ≥65 years of age, 661 (43%) and 1,304 (86%) were at high risk for a major osteoporotic fracture (10-year probability >20%) and hip fracture (>3%), respectively. Among patients at high risk for a major osteoporotic fracture (n=723), only 453 (63%) and 320 (44%) reported taking any osteoporosis medications and bisphosphonates, respectively. Among female patients with BMD measurements (n=262), the 10-year risk of a major osteoporotic fracture calculated with BMD was significantly higher than in those without BMD measurements (P<0.001). The FRAX identified a substantial proportion of elderly Japanese RA patients with a high risk of fractures. A substantial gap exists between fracture risk and osteoporosis treatment in Japanese RA patients, as previously reported for patients of other ethnicities. In addition, the gap may be underestimated when BMD measurements are not involved in the fracture risk assessment.

Ethnicity and Gender Differences in Lipodystrophy of HIV-Positive Individuals Taking Antiretroviral Therapy in Ontario, Canada

Purpose: This study assessed ethnicity and gender differences in prevalence, type, and severity of antiretroviral-associated lipodystrophy in HIV-positive individuals in Ontario. Methods: This was a cross-sectional analysis of the Ontario Cohort Study (OCS), a prospective study of HIV-positive patients in Ontario. Lipodystrophy was defined as at least 1 major or 2 minor self-reported changes of peripheral lipoatrophy and/or central lipohypertrophy. Prevalence, type, and severity were compared by ethnicity (Black, White, or Other) and gender. Univariate and multivariate logistic regression analyses identified predictors of lipodystrophy. Results: Data were available for 778 participants (659 men, 119 women). There were 517 Whites, 121 Blacks, and 140 patients of Other ethnicities. In univariate analyses, Whites reported more peripheral lipoatrophy (P = .004) and abdominal lipohypertrophy (P = .04); these ethnic differences were observed in males (P = .05 and P = .03, respectively) but not females. Males reported more peripheral lipoatrophy (P = .01), whereas females had more central lipohypertrophy (P < .0001) and mixed fat redistribution (P < .0001). Multivariable regression analyses revealed Black women to be most vulnerable to lipodystrophy (P = .02), particularly lipohypertrophy (P < .0001). Conclusions: Ethnicity and gender are important factors influencing lipodystrophy. Combining lipoatrophy and lipohypertrophy into a single entity is not appropriate. Black women were most vulnerable to lipohypertrophy, which has important implications for antiretroviral therapy roll-out in Africa.

Abstract P3-02-01: Is Ethnicity a Predictor of Micrometastatic Disease in Early Stage Breast Cancer Patients?

Abstract Background: Ethnicity plays a role in breast cancer (BC) outcome, highlighted by the fact that African-American women have a higher BC mortality rate than do Caucasian women. Microscopic disease, including disseminated tumor cells (DTCs) in bone marrow and circulating tumor cells (CTCs) in peripheral blood, has been shown to predict worse outcomes as well. We sought to determine whether ethnicity was a significant predictor for the presence of DTCs and/or CTCs in stage I-III BC patients. Methods: Patients provided informed consent to participate in an IRB-approved study involving collection of blood and bone marrow at the time of surgery for their primary BC. CTCs (per 7.5 ml blood) were detected using the Cell SearchTM system (Veridex) and were defined as nucleated cells lacking CD45 but expressing cytokeratins (CK) 8, 18, or 19; for this study we considered one or more positive cells meeting these criteria a positive result. DTCs were assessed using an anti-CK antibody cocktail (AE1/AE3, CAM5.2, MNF116, CK8 and 18) following cytospin. A positive result for DTCs was defined by presence of one or more CK positive cells meeting morphologic criteria for malignancy. Information on clinicopathological factors including ethnicity was obtained from a prospective database. Statistical analyses used Chi-square test on STATA IC11. Results: We prospectively evaluated 224 patients undergoing surgery for stage I-III BC. Median follow-up was 22 months and mean age was 53 years. One hundred sixty seven patients (75%) were Caucasians, 22 (10%) were African-American (AA), 30 (14%) were Hispanic and 3 (1%) belonged to other ethnicities. CTCs were found in 25% (57/224) and DTCs in 30% (67/224) of patients. Patients of AA ethnicity were significantly more likely to have CTCs (50%, (11/22)) compared to the other ethnic groups (22%, (43/194)); {O.R. = 2.5, 95% C.I. = 1.35- 7.80, P = 0.002}, and had significantly higher numbers of CTCs (≥2 CTCs or ≥3 CTCs/7.5mL blood) than other ethnic groups (P = 0.001 and P &amp;lt; 0.001, respectively). No statistically significant correlation was observed between other ethnic groups and CTCs. Patients of Hispanic origin were more likely to have DTCs (60%, (18/30)) as compared to other ethnic groups (25%, (49/194)); {O.R. = 4.4, 95% C.I. = 1.85- 10.80, P &amp;lt; 0.0001}, while DTCs were less likely to be found in Caucasians (26%, (44/167)) as compared to the other ethnicities (40%, (23/57)); {O.R. = 0.52, 95% C.I. = 0.27 — 1.05, P = 0.046}. No significant association was found between occurrence of DTCs and AA ethnicity. In a multivariate analysis considering lymph node status, tumor size and tumor markers, ethnic origin was an independent predictor of microscopic disease. Conclusions: Nearly one-third of primary BC patients have CTCs and/or DTCs. African-American women were much more likely to have CTCs and Hispanic patients had significantly more DTCs than did patients of other ethnicities. Ethnicity was an independent predictor of microscopic disease. These findings may shed some light on the higher BC mortality rates found in certain ethnic groups. Citation Information: Cancer Res 2010;70(24 Suppl):Abstract nr P3-02-01.

An overview of a cohort of South African patients with mitochondrial disorders

Mitochondrial disorders are frequently encountered inherited diseases characterized by unexplained multisystem involvement with a chronic, intermittent, or progressive nature. The objective of this paper is to describe the profile of patients with mitochondrial disorders in South Africa. Patients with possible mitochondrial disorders were accessed over 10 years. Analyses for respiratory chain and pyruvate dehydrogenase complex enzymes were performed on muscle. A diagnosis of a mitochondrial disorder was accepted only if an enzyme activity was deficient. Sixty-three patients were diagnosed with a mitochondrial disorder, including 40 African, 20 Caucasian, one mixed ancestry, and two Indian patients. The most important findings were the difference between African patients and other ethnicities: respiratory chain enzyme complexes CI+III or CII+III deficiencies were found in 52.5% of African patients, being of statistical significance (p value = 0.0061). They also presented predominantly with myopathy (p value = 0.0018); the male:female ratio was 1:1.2. Twenty-five (62.5%) African patients presented with varying degrees of a myopathy accompanied by a myopathic face, high palate, and scoliosis. Fourteen of these 25 also had ptosis and/or progressive external ophthalmoplegia. No patients of other ethnicities presented with this specific myopathic phenotype. Caucasian patients (16/20) presented predominantly with central nervous system involvement. Of the South African pediatric neurology patients, Africans are more likely to present with myopathy and CII+III deficiency, and Caucasian patients are more likely to present with encephalopathy or encephalomyopathy.

Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema

Background: Autosomal dominant hereditary angioedema (HAE) results in episodes of subcutaneous edema in any body part and/or submucosal edema of the upper respiratory or gastrointestinal tracts. This disorder is caused by mutations in the C1NH gene, many of which have been described primarily in European patients. However, the genetic cause of HAE in Middle Eastern Arab patients has not yet been determined. Methods: Four unrelated Arab families, in which 15 patients were diagnosed with HAE, were studied. DNA from 13 patients was analyzed for mutations in the C1NH gene by DNA sequencing. Results: Three novel and 2 recurrent mutations were identified in the C1NH gene of HAE patients. In family 1, the patient was heterozygous for a novel c.856C>T and a recurrent c.1361T>A missense mutation encoding for p.Arg264Cys and p.Val432Glu, respectively. In patients from family 2, a novel c.509C>T missense mutation encoding for a p.Ser148Phe was identified. In patients from family 3, a novel c.1142delC nonsense mutation encoding for a p.Ala359AlafsX15 was discovered. In family 4, a recurrent c.1397G>A missense mutation encoding for a p.Arg444His was present. Conclusion: This is the first ever report of C1NH gene mutations in Middle Eastern Arab patients. Our study suggests that, despite the numerous existing mutations in the C1NH gene, there are novel and recurrent mutations in HAE patients of non-European origin. We conclude that the spectrum of C1NH gene mutations in HAE patients is wider due to the likely presence of novel and recurrent mutations in patients of other ethnicities.

Life-Supportive Therapy Withdrawal and Length of Stay in a Large Oncologic Intensive Care Unit at the End of Life

We evaluated the factors associated with life-supportive therapy withdrawal (LSTW) and length-of-stay (LOS) of adult patients with cancer who died while in the intensive care unit (ICU). We performed chart review of adult patients with cancer who died in a 53-bed ICU of a comprehensive cancer center and evaluated the relative impact of demographic and clinical factors by using logistic regression and linear regression. A total of 267 patients were included in the study. Multivariate analysis showed that white patients were 2.52 times more likely to have LSTW than patients of other ethnicities (95% confidence interval 1.23-5.15, p = 0.01). The mean LOS for patients with hematologic cancers was 7.7 days, compared to only 4.8 days for those diagnosed with nonhematologic cancers (p = 0.01). Having a hematologic cancer, LSTW, or admission into the surgical oncologic ICU independently predicted increased LOS for those who died in the ICU (p < 0.001 p = 0.001, and p < 0.001, respectively). Cultural differences in dealing with the end-of-life process rooted in religious beliefs or language barriers and reflected in the utilization rates of LSTW by non-whites and whites may partially explain our findings. The difficult transition from curative to palliative care in the ICU is reflected by the increased LOS of patients who received LSTW, were diagnosed with hematologic cancers, or were admitted into the surgical unit.

Associated factors for falls and fear of falling in Japanese patients with rheumatoid arthritis

The objective of this is to determine factors associated with falls in Japanese patients with rheumatoid arthritis (RA). Among the patients who participated in a single-institute-based prospective observational cohort study of patients with RA, namely, Institute of Rheumatology Rheumatoid Arthritis, 4,996 (male 765, female 4231, median age 60 years) responded to questions related to falls during the previous 6 months in April or May 2008. Logistic regression was used to determine the association between variables and falls. Five hundred and five (10.1%), 110 (2.2%), and 958 patients (19.2%) reported at least one fall, multiple falls, and fear of falling, respectively. Those who fell tended to report incident fractures during the same 6 months compared to those who did not (14.7% versus 1.1%, P < 0.001). In multivariate models, Japanese health assessment questionnaire (HAQ) scores (odds ratios (OR) 1.52, 2.49, and 3.88), tender joint counts (OR 1.39, 1.72, and 1.36), patient-reported visual analog scale for general health (OR 1.08, 1.16, and 1.20), and body mass index (OR 1.05, 1.08, and 1.04) were associated (P < 0.05) with at least one fall, multiple falls, and fear of falling, respectively. Other clinical variables and medications were also associated with falls and fear of falling. HAQ disability score, tender joint counts, and impaired general health appear to be associated with falls in Japanese patients with RA, as previously reported for patients of other ethnicities.

Emerging ethnic differences in lung cancer therapy

Although global clinical trials for lung cancer can enable the development of new agents efficiently, whether the results of clinical trials performed in one population can be fully extrapolated to another population remains questionable. A comparison of phase III trials for the same drug combinations against lung cancer in different countries shows a great diversity in haematological toxicity. One possible reason for this diversity may be that different ethnic populations may have different physiological capacities for white blood cell production and maturation. In addition, polymorphisms in the promoter and coding regions of drug-metabolising enzymes (e.g., CYP3A4 and UGT1A1) or in transporters (e.g., ABCB1) may vary among different ethnic populations. For example, epidermal growth factor receptor (EGFR) inhibitors are more effective in Asian patients than in patients of other ethnicities, a characteristic that parallels the incidence of EGFR-activating mutations. Interstitial lung disease associated with the administration of gefitinib is also more common among Japanese patients than among patients of other ethnicities. Although research into these differences has just begun, these studies suggest that possible pharmacogenomic and tumour genetic differences associated with individual responses to anticancer agents should be carefully considered when conducting global clinical trials.

Comment on ‘Impact of CYP2D6*10 on recurrence‐free survival in breast cancer patients receiving adjuvant tamoxifen therapy’

(Cancer Sci 2008; 99: 1706–1707)

The impact of ethnicity on the presentation and prognosis of patients with gastric adenocarcinoma

Regional-based studies have indicated that ethnicity is associated with presentation and outcome in patients with gastric adenocarcinoma. To validate this observation in a large cohort, the authors of this report used the National Cancer Data Base (NCDB) to determine whether self-reported ethnicity influences presentation and survival in this patient population. Patient demographics, tumor-related features, and treatment-related features were analyzed by ethnicity. Univariate analyses were performed using the chi-square test. Overall median and relative survival rates were examined by using the Kaplan-Meier method. Cox proportional-hazards models were used to identify the predictors of survival outcomes. Between 1995 and 2002, 81,095 cases of gastric adenocarcinoma were entered into the NCDB. There were 57,943 white patients (71.5%), 11,094 African-American patients (13.7%), 5665 Hispanic patients (7%), 4736 Asian/Pacific Islander (API) patients (5.8%), and 1657 patients of other ethnicities (2%). Significant differences were observed according to ethnicity among the variables that were compared (all P < .01). In patients with stage I and II disease, the 5-year relative survival rates for APIs (stage I, 77.2%; stage II, 48%) were more favorable than for whites (stage I, 58.7%; stage II, 32.8%), African Americans (stage I, 55.9%; stage II, 37.9%), and Hispanics (stage I, 60.8%; stage II, 39.3%). The overall median survival of APIs was more favorable than that of others (P < .01). Predictors of a better outcome were Asian race, female sex, younger age, earlier stage, lower grade, distal tumors, multimodality treatment, and care at a teaching hospital. Ethnicity was associated with differences in presentation and outcome of patients with gastric adenocarcinoma. APIs had a more favorable outcome than patients of other ethnicities. Further studies should target underlying biologic and socioeconomic factors to explain these differences.

Long-term Efficacy and Safety of Uterine Artery Embolization in Young Patients with and without Uteroovarian Anastomoses

To assess long-term clinical efficacy of uterine artery embolization (UAE) in young women and the clinical significance of patent anastomoses between uterine and ovarian arteries. Consecutive women no older than 39 years of age treated with UAE for symptomatic uterine leiomyomata with at least 3 years of follow-up were included in the study. Analysis includes angiographic images, pre- and postoperative magnetic resonance (MR) images, and symptom evaluations. Clinical evaluation and symptom severity scores (SSSs) were obtained at 6 months and yearly. Leiomyomata volume change, SSS, and repeat intervention rates were compared for patients with and without anastomoses between uterine and ovarian arteries. The study cohort included 87 patients, including 30 white patients (34.4%), 49 black patients (56.3%), and eight patients of other ethnicities (9.2%). Anastomoses were demonstrated in 41 patients (47.1%). Seventy patients (80.5%) completed the long-term follow-up, of whom 35 had an anastomosis (85.4% of the 41 patients with anastomoses) and 35 did not (76.1% of the 46 patients without anastomoses). Mean leiomyoma volume reduction was 49.1% (P = .018), and reduction of uterine volume was 36.0% (P < .001). Mean clinical follow-up duration was 45 months. Overall, 18 of 70 patients (25.7%) underwent repeat interventions, including 13 (37.1%) with anastomoses and five (14.3%) without anastomoses (P = .029). One patient (1.4%) developed natural amenorrheic change in the long term after UAE. Nineteen patients (27.1%) attempted pregnancy after UAE, and 12 patients had 15 pregnancies, with six pregnancies to full term. UAE in young patients achieves significant dominant leiomyoma volume reduction and symptomatic improvements, with overall repeat intervention rates of 25.7% in the long term. Uteroovarian anastomoses in young patients are associated with higher rates of repeat intervention after UAE.

Ethnic variation in the prevalence of echogenic intracardiac foci and the association with Down syndrome

To determine whether the prevalence of fetal echogenic intracardiac foci (EIF) differs according to maternal ethnicity. We performed a retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination and amniocentesis at a prenatal diagnosis referral center from January 1 2000 to July 1 2003. Data were collected on the presence of EIF, gestational age at time of ultrasound scan, karyotype results, maternal age and ethnicity. Univariate and multivariate analyses of EIF, ethnicity and presence of aneuploidy were conducted. Among the 7480 women qualifying for the study, EIF were found in 309 (4.1%). When maternal ethnicity was subdivided into Caucasian, African-American, Hispanic, Asian-American, Native American, Asian Indian, and Middle Eastern, the highest rates of EIF were found in fetuses of African-American (6.7%), Asian-American (6.9%), and Middle Eastern (8.1%) mothers compared to a rate of 3.3% in Caucasians (P < 0.001). In all ethnic groups except Hispanics, EIF was associated with an increased risk for Down syndrome (odds ratio range from 1.8 to 15.7). African-American, Asian-American, and Middle Eastern patients are more likely than patients of other ethnicities to have a fetus with an EIF. Even controlling for ethnicity, fetuses with an EIF still have an increased risk for Down syndrome. As more data accumulate, the prevalence of EIF and its association with Down syndrome among different ethnic groups can be incorporated into patient counseling.

Ethnic variations in the prevalence of echogenic intracardiac foci

ObjectiveTo determine whether the prevalence of echogenic intracardiac foci (EIF) is affected by maternal ethnicity.Study DesignA retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination at a prenatal diagnosis referral center from January 1, 2000, to July 1, 2003. Data were collected on the frequency of echogenic intracardiac foci, gestational age at time of ultrasound, and maternal age and ethnicity. Univariate and multivariate analyses were conducted using STATA software.ResultsAmong the 7535 women who underwent ultrasound examination for prenatal diagnosis during the study period, EIF was found in 309 (4.1%). When maternal ethnicity was subdivided into Caucasian, African American, Hispanic, Asian, Native American, Filipino, East Indian, and Middle Eastern, the highest rates of EIF were found in fetuses of Middle Eastern (8.1%), Asian (7.6%), and African American (6.7%) mothers compared to a rate of 3.3% in Caucasians (P<0.001). In multivariate analyses controlling for maternal age greater than or equal to 35 years, the odds ratio for the presence of EIF was 2.5 (95% CI, 1.80, 3.40) in Asians and 1.9 (95% CI, 1.21, 2.96) in African Americans as compared to Caucasians. Despite the variation in EIF prevalence, it was associated with an increased risk (OR range from 1.9 to 7.0) for Down syndrome.ConclusionMiddle Eastern, Asian, and African American patients are more likely than patients of other ethnicities to have a fetus with EIF. This should be considered in the counseling of such patients. As more data accumulate, ethnic-based odds ratios may be used to adjust the a priori risk of Down syndrome. ObjectiveTo determine whether the prevalence of echogenic intracardiac foci (EIF) is affected by maternal ethnicity. To determine whether the prevalence of echogenic intracardiac foci (EIF) is affected by maternal ethnicity. Study DesignA retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination at a prenatal diagnosis referral center from January 1, 2000, to July 1, 2003. Data were collected on the frequency of echogenic intracardiac foci, gestational age at time of ultrasound, and maternal age and ethnicity. Univariate and multivariate analyses were conducted using STATA software. A retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination at a prenatal diagnosis referral center from January 1, 2000, to July 1, 2003. Data were collected on the frequency of echogenic intracardiac foci, gestational age at time of ultrasound, and maternal age and ethnicity. Univariate and multivariate analyses were conducted using STATA software. ResultsAmong the 7535 women who underwent ultrasound examination for prenatal diagnosis during the study period, EIF was found in 309 (4.1%). When maternal ethnicity was subdivided into Caucasian, African American, Hispanic, Asian, Native American, Filipino, East Indian, and Middle Eastern, the highest rates of EIF were found in fetuses of Middle Eastern (8.1%), Asian (7.6%), and African American (6.7%) mothers compared to a rate of 3.3% in Caucasians (P<0.001). In multivariate analyses controlling for maternal age greater than or equal to 35 years, the odds ratio for the presence of EIF was 2.5 (95% CI, 1.80, 3.40) in Asians and 1.9 (95% CI, 1.21, 2.96) in African Americans as compared to Caucasians. Despite the variation in EIF prevalence, it was associated with an increased risk (OR range from 1.9 to 7.0) for Down syndrome. Among the 7535 women who underwent ultrasound examination for prenatal diagnosis during the study period, EIF was found in 309 (4.1%). When maternal ethnicity was subdivided into Caucasian, African American, Hispanic, Asian, Native American, Filipino, East Indian, and Middle Eastern, the highest rates of EIF were found in fetuses of Middle Eastern (8.1%), Asian (7.6%), and African American (6.7%) mothers compared to a rate of 3.3% in Caucasians (P<0.001). In multivariate analyses controlling for maternal age greater than or equal to 35 years, the odds ratio for the presence of EIF was 2.5 (95% CI, 1.80, 3.40) in Asians and 1.9 (95% CI, 1.21, 2.96) in African Americans as compared to Caucasians. Despite the variation in EIF prevalence, it was associated with an increased risk (OR range from 1.9 to 7.0) for Down syndrome. ConclusionMiddle Eastern, Asian, and African American patients are more likely than patients of other ethnicities to have a fetus with EIF. This should be considered in the counseling of such patients. As more data accumulate, ethnic-based odds ratios may be used to adjust the a priori risk of Down syndrome. Middle Eastern, Asian, and African American patients are more likely than patients of other ethnicities to have a fetus with EIF. This should be considered in the counseling of such patients. As more data accumulate, ethnic-based odds ratios may be used to adjust the a priori risk of Down syndrome.

Autopsy findings in a human immunodeficiency virus-infected population over 2 decades: influences of gender, ethnicity, risk factors, and time.

To examine autopsy pathology in an urban population infected with the human immunodeficiency virus (HIV) and to determine if age at death and disease frequencies are associated with gender, HIV risk factors, ethnicity, and therapeutic era. Retrospective analysis of autopsy data from 394 HIV-infected adults. The population was divided into 3 therapeutic eras for analysis: group A, 1979-1986; group B, 1987-1995; and group C, 1996-2000. Women died at significantly younger ages than men (mean +/- SEM age, 38.9 +/- 1.0 years vs 42.5 +/- 0.64 years), even after adjustment for risk factors, ethnicity, and therapeutic era. This age discrepancy occurred despite a lower prevalence of arteriosclerosis, cachexia, and hepatitis B in women and no significant differences in the frequencies of other infectious diseases. Whites had a longer survival than patients of other ethnicities (mean age at death, 44.7 +/- 1.2 years for whites, 39.9 +/- 0.80 years for blacks, and 41.3 +/- 0.87 years for Hispanic individuals). Renal, cardiac, and splenic pathologies, Mycobacterium avium-intracellulare (MAI) infection, and cachexia were more common in blacks than in whites and/or Hispanic individuals, and cytomegalovirus and systemic lymphoma were more common in whites and Hispanic individuals than in blacks. Diseases associated with intravenous drug use were hepatitis C, cirrhosis, and tuberculosis; those with all sexual risk factors, cytomegalovirus infection, herpes simplex virus infection, and Pneumocystis carinii pneumonia; and those with homosexual risk, Kaposi sarcoma and MAI infection. The prevalence of many disease entities changed over time: compared with the other groups, group C had lower prevalences of many viral and fungal illnesses, MAI infection, systemic lymphoma, cachexia, and Kaposi sarcoma and higher prevalences of hepatitis, cirrhosis, arteriosclerosis, staphylococcal and streptococcal infections, and traumatic lesions. When the data were adjusted for changing demographic and risk composition, the only significant changes in disease frequency for period C were decreased prevalences of PCP and Kaposi sarcoma and increased prevalences of cirrhosis and arteriosclerosis. Significant gender- and ethnicity-related differences in age of death occurred in this HIV-infected population, and these differences were not explained by the frequencies of diseases. The lower prevalences of PCP and Kaposi sarcoma in group C are likely a reflection of the impact of potent therapies on causes of mortality. The higher prevalences of cirrhosis and arteriosclerosis suggest that entities not targeted by antiretroviral reconstitution of immunity will play an increasingly important role in HIV-related mortality in the future.

Autopsy findings in a human immunodeficiency virus-infected population over 2 decades: Influences of gender, ethnicity, risk factors, and time

Objectives To examine autopsy pathology in an urban population infected with the human immunodeficiency virus (HIV) and to determine if age at death and disease frequencies are associated with gender, HIV risk factors, ethnicity, and therapeutic era. Design and methods Retrospective analysis of autopsy data from 394 HIV-infected adults. The population was divided into 3 therapeutic eras for analysis: group A, 1979-1986; group B, 1987-1995; and group C, 1996-2000. Results Women died at significantly younger ages than men (mean +/- SEM age, 38.9 +/- 1.0 years vs 42.5 +/- 0.64 years), even after adjustment for risk factors, ethnicity, and therapeutic era. This age discrepancy occurred despite a lower prevalence of arteriosclerosis, cachexia, and hepatitis B in women and no significant differences in the frequencies of other infectious diseases. Whites had a longer survival than patients of other ethnicities (mean age at death, 44.7 +/- 1.2 years for whites, 39.9 +/- 0.80 years for blacks, and 41.3 +/- 0.87 years for Hispanic individuals). Renal, cardiac, and splenic pathologies, Mycobacterium avium-intracellulare (MAI) infection, and cachexia were more common in blacks than in whites and/or Hispanic individuals, and cytomegalovirus and systemic lymphoma were more common in whites and Hispanic individuals than in blacks. Diseases associated with intravenous drug use were hepatitis C, cirrhosis, and tuberculosis; those with all sexual risk factors, cytomegalovirus infection, herpes simplex virus infection, and Pneumocystis carinii pneumonia; and those with homosexual risk, Kaposi sarcoma and MAI infection. The prevalence of many disease entities changed over time: compared with the other groups, group C had lower prevalences of many viral and fungal illnesses, MAI infection, systemic lymphoma, cachexia, and Kaposi sarcoma and higher prevalences of hepatitis, cirrhosis, arteriosclerosis, staphylococcal and streptococcal infections, and traumatic lesions. When the data were adjusted for changing demographic and risk composition, the only significant changes in disease frequency for period C were decreased prevalences of PCP and Kaposi sarcoma and increased prevalences of cirrhosis and arteriosclerosis. Conclusions Significant gender- and ethnicity-related differences in age of death occurred in this HIV-infected population, and these differences were not explained by the frequencies of diseases. The lower prevalences of PCP and Kaposi sarcoma in group C are likely a reflection of the impact of potent therapies on causes of mortality. The higher prevalences of cirrhosis and arteriosclerosis suggest that entities not targeted by antiretroviral reconstitution of immunity will play an increasingly important role in HIV-related mortality in the future.

3849 + 10 kb C → T Splicing Mutation in Hispanic CF Patients

Seven patients compound heterozygous for the 3849 + 10kb C → T mutation in the CFTR gene were found among the 152 patients attending the CHLA CF Clinic. The frequency of this mutation accounts for 2.3 and 3.9% of thetotal and Hispanic CF alleles of CHLA patients. These are significantly higher than the 0.6% of the general CF population. The average age of diagnosis of this group of Hispanics is 3.1 years, which is much younger than that reported for CF patients of other ethnicities with the same mutation. Both pancreatic sufficient and pancreatic insufficient patients were observed. It is concluded that the 3849 + 10kb C → T mutation is associated with a variable but potentially mild type of CF.