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This study sought to describe the percentage and cause of anemia in patients who underwent ileal pouch with anal anastomosis (IPAA) for ulcerative colitis (UC), and to compare the distribution of complications in patients with and without anemia, especially pouchitis, after IPAA.IPAA is the surgical procedure of choice for UC. Complications include pouchitis (40%), strictures (30%), small bowel obstruction (10%), pelvic sepsis (5%), and urinary and sexual dysfunctions (5%). Few studies have described the prevalence of anemia after IPAA, but no conclusive findings have been reported.Patients who had undergone IPAA for UC were recruited from the UPR Inflammatory Bowel Disease Clinic and the Gastroenterology Research Unit. Demographic and medical data were obtained. Anemia was diagnosed using standard hematologic criteria. Serum iron, ferritin, transferrin, folate, vitamin B12, erythropoietin, total iron-binding capacity, reticulocyte count, peripheral smear, and bone marrow aspirate were evaluated in patients with anemia. Data analysis was performed with EPI Info version 6.4d.Iron-deficiency anemia was identified in 55.5% (10/18) of patients and pouchitis was found in 77% (14/18). All 10 patients with anemia had pouchitis, whereas only 4 of the 8 without anemia had pouchitis. In half of the anemic patients, pouchitis was asymptomatic.Iron-deficiency anemia may be a clinical presenting sign of pouchitis. Hemoglobin levels may be considered as surveillance tools for pouchitis in patients with IPAA.

Hepatitis C infection is the most common chronic blood-borne pathogen in the United States associated with liver cirrhosis and hepatocellular carcinoma and is the leading reason for liver transplantation. It has been estimated that hepatitis C infection may lead to a substantial health and economic burden over the next 10 to 20 years. The prevalence of hepatitis C virus (HCV) infection varies worldwide, with an estimated overall prevalence of 3%. However, the only available data of hepatitis C in the general population of Puerto Rico suggest an elevated prevalence of hepatitis C infection in the municipality of San Juan (6.3%) in comparison with estimates for the adult population residing in the United States (0.9%-3.9%). Much of the inter-region variability in the prevalence of hepatitis C can be attributable to the frequency and extent to which different risk factors have contributed to the transmission of the virus. Established risk factors for infection include injection drug use, transfusion of blood and solid organ transplantation from infected donors prior to July 1992 and blood clotting products before 1987, occupational injury, vertical transmission, sex with an HCV infected partner, and multiple sexual partners. Other potential exposures for infection that have been investigated in epidemiologic studies include history of intranasal cocaine use, sharing of contaminated equipment and personal care items, tattooing, body piercing, imprisonment, acupuncture, and use of contaminated healthcare instruments. The high incidence of AIDS in Puerto Rico and the large prevalence observed in Puerto Rican inmates and in adults residing in the municipality of San Juan indicate that HCV infection is an emerging public health concern. From a public health perspective, potential targets for intervention to decrease the spread of HCV infection, ongoing surveillance, increased clinician awareness of disease reporting systems and the epidemiology and management of hepatitis C, availability of diagnosis and treatment facilities, and recognition of the need for local resources will be of paramount importance to face this silent infection in Puerto Rico.

Chronic hepatitis C (CHC) is a major health problem in Puerto Rico (PR). More than 50% of the population is insured by a government-sponsored managed care system that does not cover treatment for CHC. Lack of access to treatment will result in an increase in end-stage liver disease with its high socioeconomic impact in the future. In an attempt to identify strategies for the treatment of CHC in the publicly insured population, the PR Health Department and the University of Puerto Rico (UPR) Gastroenterology (GI) Division have developed a pilot clinic for the evaluation and treatment of CHC.UPR and the PR Health Department negotiated a fee per patient to include all medical care and follow-up laboratories. Viral studies were covered by a grant to the Health Department. Medications were bought at a discount price by the government and dispensed at a government pharmacy. The Health Department allocated funds for 200 patients with government insurance. A dedicated clinic was established at the UPR, staffed by an internist under the supervision of the GI faculty. Patients with a positive HCVab were referred to this clinic. The public insurance covered the CBC, liver tests, metabolic panel, TSH, HBsAg, HIV, ultrasound and liver biopsy, which were required prior to evaluation for possible treatment. In the initial visit, patients underwent a medical evaluation, including assessment of suitability for therapy and counseling. Those deemed to be candidates who still needed a liver biopsy had it performed by the GI staff. Genotype and viral titers were ordered after the decision on treatment had been made. The clinic physician prescribed pegylated interferon and ribavirin, which were dispensed by the government pharmacy. Instruction on proper drug administration was given. Clinic visits were scheduled for 1, 3, 6 and 12 months but also allowed on demand. Laboratory tests were done at the clinic and reviewed by the physician expediently to monitor for toxicity. Any medical problems or treatment for complications of therapy were covered by the primary insurer. Viral load was repeated at 12 weeks to discontinue therapy in those unlikely to respond. The budget per patient for medical visits and laboratory tests was dollars 1,500.00, HCV RNA titers plus genotype costs dollars 200.00, and HCV qualitative RNA costs dollars 123.00405 patients have been referred between February 2002 and April 2003 (the number was increased at adjust for no-shows and those not treated). 30% are female, the major risk factor is IVDU, and 80% are unemployed. 101 have started treatment and 48 are awaiting biopsy. A support group has been established at the clinic.The treatment for CHC in practice is not only costly but also resource consuming. Most gastroenterologists in our community refer these patients for treatment. The establishment of a dedicated clinic with a primary physician supervised by the specialists reduces costs and facilitates caring for a larger number of patients. The volume of services allows for negotiation of medical, laboratory and drug costs. In allocating funds for this project, the PR Health Department recognized the importance in reducing the potential spread in the community by treating infected patients as well as reducing the future medical and socioeconomic burden of end-stage liver disease. Although the outcome of this project is still unseen, we believe that this model may serve to establish other clinics for the treatment of CHC at lower costs with the same effectiveness.

To evaluate the response rate of Hispanics with chronic hepatitis C to combination therapy of interferon alfa-2b plus ribavirin and to assess its adverse events.Hepatitis C virus may lead to chronic infection and multiple complications. Response to combination therapy of interferon plus ribavirin has been studied in many populations. African Americans have been found to have a lower response rate than Caucasians. However, little data exist for Hispanics.Hispanic patients from Puerto Rico with chronic hepatitis C were eligible for the study between November 1997 and February 2000. The Institutional Review Boards of the participating institutions approved the study. Written informed consents were obtained. Combination therapy was given for 48 weeks and patients were followed for 24 weeks after treatment. Analysis of response to therapy was performed in an intention-to-treat basis.The most frequent adverse event was anemia (89%), associated to ribavirin. Sustained response was 23% for naive patients, 45% for relapsers, and 8% for non-responders to previous interferon monotherapy (p0.001). Data to analyze response was not available in 27% of patients. Hispanic patients had a low response rate to combination therapy.Response rates to combination therapy for Hispanic naive and previously non-responder patients are lower than in other reported populations. This may be due to a high prevalence of genotype 1 in Puerto Rico, which is associated to poor response. The higher response rate of relapsers, similar to those reported previously, was expected since these patients showed a previous response to interferon monotherapy. Ethnic factors may play a role in the response to therapy and should be further studied to determine proper treatment strategies for this population.

Inflammatory bowel disease (IBD), comprising primarily of Crohn's disease (CD) and ulcerative colitis (UC), is increasingly prevalent in racial and ethnic minorities. This study was undertaken to characterize racial differences in disease phenotype in a predominantly adult population.Phenotype data on 830 non-Hispanic white, 127 non-Hispanic African American, and 169 Hispanic IBD patients, recruited from six academic centers, were abstracted from medical records and compiled in the NIDDK-IBD Genetics Consortium repository. We characterized racial differences in family history, disease location and behavior, surgical history, and extraintestinal manifestations (EIMs) using standardized definitions.African American CD patients were more likely than whites to develop esophagogastroduodenal CD (OR = 2.8; 95% CI: 1.4-5.5), colorectal disease (OR = 1.9; 95% CI: 1.1-3.4), perianal disease (OR = 1.7; 95% CI: 1.03-2.8), but less likely to have ileal involvement (OR = 0.55; 95% CI: 0.32-0.96). They were also at higher risk for uveitis (OR = 5.5; 95% CI: 2.3-13.0) and sacroiliitis (OR = 4.0; 95% CI: 1.55-10.1). Hispanics had higher prevalence of perianal CD (OR = 2.9; 95% CI: 1.8-4.6) and erythema nodosum (3.3; 95% CI: 1.7-6.4). Among UC patients, Hispanics had more proximal disease extent. Both African American and Hispanic CD patients, but not UC patients, had lower prevalences of family history of IBD than their white counterparts.There are racial differences in IBD family history, disease location, and EIMs that may reflect underlying genetic variations and have important implications for diagnosis and management of disease. These findings underscore the need for further studies in minority populations.

The incidence and prevalence of Crohn's disease (CD) varies geographically and with racial/ ethnic background. The highest frequency of occurrence is in North America and Northern Europe. Incidence is highest among Caucasians, lower in blacks and Hispanics, and lowest in Asians. However in the mid-1980s and 1990s, the incidence and prevalence increased in continental Europe, the Middle East, the Pacific Rim, Africa, and Latin America. An increase in the incidence of CD has been noted in Puerto Rico, although our population differs genetically from other described CD populations. A study in our population showed lower prevalence of ASCA and no NOD2 in our CD patients. Infliximab, a TNFa antibody, is effective in refractory inflammatory CD and in fistulizing disease. Since limited data exists regarding CD in Hispanics, the fastest growing minority group in the United States, we designed this retrospective study with patients treated with infliximab at our institution. We wanted to determine if the response to infliximab in genetically admixed Hispanics differed from that previously reported.Baseline characteristics, infusion related information and clinical response was abstracted from medical records. Clinical response was classified as complete response, partial response, and nonresponse.The study included 15 patients treated for refractory inflammatory disease, 9 for fistulizing disease, and 11 for both. The positive response rate was 83%(29/35) and the non response rate was 17%(6/35). Overall the patients with complete, partial, and no response were 13/35(37%), 16/35(46%), and 6/ 35(17%), respectively. No statistically significant association was found between response and disease location. Significant association was found between response and fistula type (p = 0.02). Steroid withdrawal was possible in 21/31 patients (68%). In terms of safety, 9/35 patients (26 %) suffered an adverse reaction, 4 patients required therapy discontinuation.This study suggests that infliximab has similar global response, allowance of steroid withdrawal and safety in Hispanics as in other populations. Ethnicity does not seem to influence response rate to infliximab.

Limited information about the epidemiology of hepatitis C virus (HCV) infection is available in Puerto Rico one of the areas hardest hit by the human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) epidemic. We estimated the prevalence of HCV infection and identified correlates of seropositivity in the municipality of San Juan Puerto Rico. A probability cluster design was employed to select a sample of households representative of the population aged 21–64 years in San Juan during 2001–2002. All 964 subjects completed a face-to-face interview to gather data on demographics and self-reported risk behaviours followed by venipuncture for HCV antibody testing. Variables that were at least marginally associated with HCV seroprevalence (P < 0.10) in the bivariate analyses were considered for inclusion into the multiple logistic regression model to estimate the adjusted prevalence odds ratio (POR). Overall weighted prevalence of HCV infection was 6.3% (95% CI 3.6–10.9%). A significant (P < 0.05) higher prevalence was observed among subjects with the following characteristics: age 30–49 (9.5%) male sex (10.6%) = 12 years of education (9.6%) no health coverage (12.6%) lifetime heroin use (39.2%) lifetime cocaine use (39.6%) tattooing practices (34.2%) history of imprisonment (32.8%) and self-reported histories of hepatitis B virus infection (30.4%) and HIV/AIDS (92.1%). Multivariate logistic regression revealed that tattooing practices (POR = 8.9; 95% CI 1.7–44.7) lifetime cocaine use (POR = 5.5; 95% CI 2.2–13.5) blood transfusions prior to 1992 (POR = 4.0; 95% CI 1.6–10.1) lifetime heroin use (POR = 3.3; 95% CI 1.4–7.8) and history of imprisonment (POR = 2.3; 95% CI 1.1–4.9) remained significantly associated with HCV seropositivity. The large prevalence of HCV infection observed in Puerto Rican adults residing in San Juan suggest that HCV infection is an emerging public health concern and merits further investigation. (authors)

Liver transplantation is the only treatment for end-stage liver disease. It is costly, difficult, and not performed in Puerto Rico. For these reasons, it has been a limited option for Puerto Ricans with advanced cirrhosis, especially for those with no medical insurance to cover for the procedure. In an effort to improve access to the procedure and offer this chance of life to more Puerto Ricans facing death from complications of advanced liver disease, the Gastroenterology and Liver Diseases Division of the University of Puerto Rico, in collaboration with LifeLink Transplant Institute in Tampa, Florida and the Office of Catastrophic Funds of the Commonwealth of Puerto Rico, opened a clinic for liver transplant evaluation at the Medical Sciences Campus. The purpose of this clinic is to coordinate the pre-transplant evaluation of candidates for this therapy, provide the evaluation by the transplant surgeon in Puerto Rico, expedite the process in seriously ill patients, and offer post-transplant follow-up upon the patient's return to Puerto Rico. The purpose of this article is to describe the experience in this clinic from 1999 to 2003. One hundred ninety-three patients were seen from September 1999 to January 2003. The most common causes for liver disease were hepatitis C and alcohol, alone or in combination. One hundred thirty four were accepted as candidates for evaluation. Of these, 63 had completed the process, 33 were listed for transplantation and 21 had been transplanted by January 2003. Neither education level, marital status, health insurance nor Child score were associated with successful outcome. This clinic offers Puerto Ricans, especially those with limited resources, with a viable access to liver transplantation.

Crohn's disease is an inflammatory bowel disease characterized by remissions and exacerbations. Immunosuppressants are frequently used to induce and maintain remission in these patients. The use of the immunomodulator azathioprine has been associated to malignancies. Chordomas are rare, locally aggressive tumors arising from remnants of the notochord. A specific trigger for this tumor has not been identified and association to any medication has not been reported. The purpose of this report is to present the first case reported in the literature of Crohn's disease associated to a chordoma. The patient to be presented was on azathioprine therapy, among other medications. A review of literature revealed that Crohn's disease and chordoma have abnormalities in chromosomes 1 and 10. Inflammatory bowel disease and chordoma also have abnormalities in chromosomal regions 1p, 3p, and 7q. Despite these findings, a direct genetic relationship between these diseases is speculative.

Las enfermeras oncológicas tienen que afrontar los retos del cuidado oncológico dentro de una expectativa de calidad asistencial. La investigación de enfermería oncológica es necesaria para dar respuesta a problemas actuales o potenciales de los pacientes con cáncer. Además, el cuidado profesional de las enfermeras requiere la integración de la investigación como actividad fundamental, bien participando en proyectos de investigación o bien utilizando los resultados de la evidencia empírica en la práctica asistencial. Este trabajo presenta la estrategia para potenciar la investigación de enfermería centrándose en cuatro aspectos: Obtención de más financiación, aumento de la productividad científica, mejora de la diseminación de los resultados y potenciación del consumo de los resultados publicados por las enfermeras asistenciales. Oncology nurses have to COPE with the demands of the cancer within a reference framework of quality care. Oncology nursing research is needed to respond to actual or potential cancer patient problems. Besides, professional nursing care requires research as a fundamental activity. All nurses have to participate in research as generators of knowledge by participating in nursing research or as consumers of research results in focusing in four targeted aspects: Greater funding directed towards nursing research, increased production of clinical research, improved dissemination, enhanced consumption of research publications by clinicians.

Treatment of chronic hepatitis C consists of inteferon plus ribavirin. The major adverse effect of ribavirin is hemolytic anemia, a complication that limits therapy. Folic acid supplementation is used to improve erythropoiesis in chronic hemolytic anemia. The aim of this study was to evaluate the effectiveness of folic acid supplementation in the prevention of ribavirin-induced anemia in patients being treated for hepatitis C. Twenty one patients enrolled in treatment protocols for hepatitis C received folic acid 1 mg daily and 22 did not. Groups were similar in age, gender, ribavirin dose and baseline hemoglobin. Folic acid supplementation had no effect in the decrease in hemoglobin or the measured parameters of hemolysis. No difference between males and females was noted for hemoglobin decrease or lowest hemoglobin levels. In our study, folic acid showed no beneficial effect in the prevention of ribavirin-induced anemia.

Limited data exists about Inflammatory Bowel Disease (IBD) in Hispanic populations. The aims of the present study were to estimate overall and specific prevalence of IBD (Crohn's disease and ulcerative colitis) and to describe the characteristics of a group of patients from the University of Puerto Rico's IBD Registry.To estimate the prevalence of IBD, computerized records of all physician billing and hospital discharges from a major health insurer in Puerto Rico and classified with ICD-9-CM codes 555.0-555.9 (Crohn's disease) and 556.0-556.9 (ulcerative colitis) during 1996 were searched. Prevalence was estimated by age group, sex, and type of insurance. To describe demographic and selected clinical information from patients with IBD, data gathered in the University of Puerto Rico's IBD Registry from 1995 through 2000 was analyzed.Out of 802,726 insured individuals, 332 had a diagnosis of Crohn's disease, 499 of ulcerative colitis and 21 had both diagnoses. The estimated prevalence per 100,000 was 41.4 for Crohn's disease, 62.2 for ulcerative colitis, and 106.1 cases per 100,000 for IBD. Peak prevalence of Crohn's disease occurred among the age groups 50-59 years andor = 60 years, and the overall female:male prevalence ratio of Crohn's disease was 1.13 (95% CI: 0.91-1.42). Ulcerative colitis was most prevalent among insured individuals aged 50-59 years and 40-49 years. The prevalence of ulcerative colitis was significantly higher among females than among males, with an overall prevalence ratio of 1.42 (95% CI: 1.18-1.71). Of 342 patients participating in the IBD Registry, 155 (45.3%) had Crohn's disease and 187 (54.7%) had ulcerative colitis. Among patients diagnosed with Crohn's disease, 51.6% were females, the mean age was 35.2 +/- 18.3 years, and 18.1% had a family history of IBD. More than half (57.8%) of patients with ulcerative colitis were females, the mean age was 42.6 +/- 17 years, and 17.1% had a family history of IBD.The estimated prevalence of IBD in this insured population in Puerto Rico places it among the middle-range of that reported for other countries. Additional studies must be conducted in Puerto Rico in order to confirm the observed findings. Population-based epidemiologic studies aimed at estimating the burden of IBD in Hispanic populations in the United States and Latin America are essential for health care planning.

Since the introduction of liver transplant as treatment for end-stage liver disease, thousands of lives have been saved. To prevent organ rejection, immunosuppression is given chronically and hence, patients are at increased risk for opportunistic infections related to immunosuppression, especially within the first year after the transplant. However, opportunistic infections can occur years after the transplantation. Disseminated nocardiosis is one of these infections, and although the common presentation includes involvement of skin, lungs, and central nervous system. We present an uncommon presentation of nocardiosis in which cholestasis and elevated liver enzymes predominate, mimicking organ rejection and liver disease recurrence. Infectious etiologies, including opportunistic microorganisms, must always be ruled out in patients presenting elevation in liver enzymes and cholestasis after liver transplant as early diagnosis can prevent complications such as re-transplantation and even death.

G A A b st ra ct s and wild type allele carrying patients (n=15), simultaneously. Expression of CSF2RB was determined by flowcytometry and confirmed by qPCR. ROS production upon stimulation of cells with fMLP with or without prior priming with GMCSF or GCSF was measured by flowcytometry. Uptake and killing of E. Coli were measured using fluorescence spectophotometry. CSF2RB signaling was studied after stimulation with GMCSF and IL5. Results: Membrane expression of CSF2RB is similar between patients bearing either T or C allele (n=10; 323±40 and 323±54 MFI). GMCSF-primed ROS production was greatly diminished in C allele patients compared to T allele patients (n=10, 221±41 MFI vs 464±52 MFI, p= 0.002), wereas GCSF-primed ROS production was unaffected (210±30 vs 225±20 MFI, p= 0.79). indicating a specific GMCSF receptor signaling defect. E.Coli uptake was not different, whereas a trend towards diminished killing was observed in C allele patients (171±28 vs 280±86 CFU). In C-allele patients, GMCSF stimulation induced less activation of STAT3 (n=5, 1.8±0.8 vs 3.5±1.1 vs); AKT (11±5 vs 23±13) and ERK (30±20 vs 40±10) in C-allele carriers. IL5 activated lower STAT5 (n=4, 0.2± 0.1 vs 0.5±0.2) and AKT signaling (0.03±0.06 vs 0.7±0.04). Conclusion: We show a specific defect in CSFR2B signaling in patients carrying the NCF4 risk allele. The CSFR2B receptor is used by both GMCSF and IL5, and both cytokines induce reduced signaling in C-allele patients. In contrast, priming of PMN by GCSF, which signals through a different receptor, was normal. Thus, the NCF4 risk allele confers a defect in CSFR2B signaling, and may identify a subset of CD patients whose inflammation is influenced by impaired innate immunity induced by neutrophils. GM-CSF treatment, which is beneficial for some patients, may be limited by NCF4 genetic background of patients.

Background: Over 160 genomic regions contribute to Inflammatory Bowel Disease (IBD) in populations with ancestry from continental Europe. Of these regions, we have reported the association of NOD2 and IL23R with Crohn's Disease (CD) in Puerto Rico. However, the Puerto Rican population also has genomic contribution from Sub-Saharan Africa and Ancient America, and thus further study of IBD in Puerto Rico provides the opportunity for locating susceptibility variants by trans-ethnic mapping and for finding new genes contributing to IBD susceptibility. Aim: To study the association between immune-related genes and CD and Ulcerative Colitis (UC) in Puerto Ricans Methods: 1159 Puerto Ricans (CD 406, UC 244, Indeterminate Colitis 5, controls 504) were recruited from the University of Puerto Rico IBD Center and community gastroenterology practices. Blood samples were obtained from each subject and DNA genotyped with the ImmunoChip (Illumina, San Diego, CA). 892 subjects from the Human Genome Diversity Panel (HGDP) were genotyped for estimation of global and local continental ancestry. Global continental ancestry of each subject from Puerto Rico was estimated using Admixture 1.2 and locus continental ancestry was estimated using Local Ancestry in adMixed Populations (LAMPLD). Both Admixture and LAMPLD analyses were "trained" using the HGDP. Association was tested using GWAF. Results: Mean global continental ancestry of the Puerto Rican subjects was found to be 12% Ancient American, 14% Sub-Saharan African, and 74% European. We estimated that the continental ancestry at the NOD2 locus was completely European in both cases and controls. Estimated ancestry at the IL23R locus was both Ancient American and European at the 5'-end of the gene but was completely European in both cases and controls in the 3'-region containing the R381Q SNP (rs11209026). We also observed suggestive evidence for the association of a haplotype in BAZ1A promoter with CD (rs1200332, MAF 0.45 in CD, 0.35 in controls, OR 1.5, p=2 x 10-6). The ancestry of this haplotype was Ancient American. Discussion: In Puerto Rico, haplotypes of NOD2 and IL23R are predominantly of European ancestry. Trans-ethnic mapping of IL23R may have localized susceptibility to the region surrounding R381Q. We also observed suggestive evidence for the association of a novel gene with CD, BAZ1A. This gene association may have been observed here because of its Ancient American ancestry. Available data have demonstrated altered expression of BAZ1A due to cellular response to lipopolysaccharide. Our observations show that the promise of genetic studies in non-European populations may be realized. This study was supported by NIDDK U01DK062413 and 8U54MD007587-03.

Background: Studies have confirmed associations with TNFSF15 and CD in Caucasian and Asian populations, but these studies have been limited by the number of markers tested. Decoy Receptor 3 (DcR3), previously identified as a susceptibility gene from a Caucasian pediatric CD GWAS, is a decoy receptor that can neutralize pro-inflammatory ligands including, TL1A (TNFSF15). Aim: To perform transethnic fine mapping across TNFSF15 and DcR3 in Caucasian, Puerto Rican and Korean CD. Methods: Genotyping was performed in Non-Jewish Caucasians (NJ; 779 CD, 4182 controls), Ashkenazi-Jews (AJ; 492 CD, 395 controls), Puerto Ricans (PR; 300 CD, 235 controls), and South Koreans (SK; 729 CD, 469 controls) using the 200K SNP ImmunoChip genotyping array. Analysis of TNFSF15 (416 SNPs) and DcR3 (13 SNPs) was conducted. Principal components analysis controlled for population structure, and logistic regression models tested for association of each SNP with CD. Results: TNFSF15 analyses: 4 rare variants (MAF,1%) and 9 common variants (MAF= 27.7-34.9%) were significantly associated with NJ CD after correction for multiple-testing. Analyses in NJ CD confirmed that rare and common variants associations could each be tagged by a single SNP (rare: rs1322057, MAF=0.83%, p=3.02E-6, OR=6.97; common: rs7869487, MAF=22.6%, p=7.26E-5, OR=0.78). Further, the associations with CD of these SNPs were independent of each other. All 13 NJ CD SNP associations were replicated in SK CD (all P ,3.15E-10) but with higher MAF (0.13% vs 34.6% for rs1322057 and 32.4% vs 40.9% for rs7869487 in controls). The independence of the 2 SNPs seen in NJ was replicated in SK. The rare variants were also associated with PR CD but with higher MAF than in NJ (6.6% for rs1322057, p=3.19E-2, OR=1.62), but no association was seen at 9 common variants in PR. No significant SNP associations were observed with AJ CD. DcR3 analyses: rs6062496, located in intron 6 of DcR3, was significantly associated with NJ CD (p=5.83E-4, OR=1.22). This association was confirmed in SK CD (p=2.01E-2, OR=1.32) but not in AJ or PR CD. The associated SNP was also significantly associated with protection against stricturing CD (p=2.95E-2, OR=0.75). There were no significant gene-gene interactions between rs6062496 in DCR3 and the 2 independent SNPs from TNFSF15 in both NJ (p.0.18) and SK CD (p.0.61). Conclusion: We have identified novel associations of rare variants in TNFSF15 with NJ CD that are independent of previously reported common variants, and are also found in PR and SK. These variants are more common in SK and also associated with SK CD, perhaps explaining the ‘dominant' role of this locus in Asian IBD susceptibility. DcR3 is significantly associated with NJ CD, a finding replicated in SK and variation at this locus modifies a stricturing phenotype.

El presente artículo contempla tres objetivos: 1) explicitar que la sexualidad engloba la reproducción humana; 2) reflexionar sobre la maternidad como construcción social y 3) entender la reproducción social como sustentadora del orden económico y social patriarcal. A partir de la lectura de fuentes secundarias de diferentes autoras que han abordado estas cuestiones desde un planteamiento constructivista de la maternidad y las relaciones de género, se ha reflexionado y estructurado el artículo en tres apartados que dan respuesta a los objetivos. Por último, se plantean conclusiones encaminadas a posibilitar el ejercicio pleno de los derechos sexuales y reproductivos.This article seeks three objectives: 1) to clarify that sexuality includes also human reproduction, 2) to reflect on motherhood as a social construction and 3) to understand the social reproduction as a supporter of the patriarchal, social and economic order. The article answers the objectives in three sections from a point of view of a constructivist approach to the motherhood and the gender relations through the reading of secondary sources of several authoresses. Finally, the article sets some conclusions out in order to make possible the full exercise of sexual and reproductive rights.