Traditionally sickle cell disease has been a disease of the young, and most sickle cell disease patients have previously been thin and undernourished. However with recent advances in sickle cell with the improvement in overall management due to groundbreaking medications such as hydroxyurea, sickle cell disease prognostics have improved along with a much increased life span compared to only a few decades ago. In the general population, the prevalence of being overweight and of obesity has exponentially increased causing an increasingly worse morbidity and mortality, and predisposing patients to increased heart disease, hypertension, stroke, and kidney disease. It is estimated that more than one-third of the US adults are obese. Sickle cell patients are prone to similar complications which are observed at an earlier age when compared to the general population due to constant hemolysis and increased stress on the various organ systems. The goal of this study was to examine the prevalence of obesity in sickle cell patients since there is very limited data on weight status and sickle cell disease. Also the nature of sickle cell complications in overweight and obese patients were compared to those of sickle cell patients with normal weight. Adult patients (>18yrs) with sickle cell disease were selected for a retrospective chart review to study their weight status. All the patients admitted over a three year period with the diagnosis of sickle cell disease at Franciscan St James, a 398 bed community hospital and health system were selected for this study. All patients were reviewed carefully to determine the sickle type and body mass index (BMI) and a total of 100 patients were reviewed for this particular study. Patients with sickle cell trait were eliminated from the study group. BMI weight status was defined as follows: <18.5: underweight, 18.5-24.9: normal weight, 25-29.9: overweight, >30: obese. Factors such as number of admissions over a three year period and comorbidities such as stroke, pulmonary disease, heart disease, Type 2 Diabetes Mellitus, renal dysfunction and liver disease were also included for analysis of weight related complications. Regression analysis along with the two tailed Fisher's exact test was used for statistical analysis. Upon data analysis the weight distribution among the 100 patients showed that 4 patients were underweight, 42 were normal weight, 26 were overweight, and 28 were obese. The overall average age of the patients was 34.3 and the average BMI was 26.3 with a standard deviation of 6.1. There were 34 males in the study and 64 females. Majority of the patients had the HbSS type sickle cell anemia. Comparisons of BMI, age, number of admissions was made based on weight status (Table 1). There is an overall inverse relationship (R² = 0.0343) between BMI and number of admissions (Figure 1). Obesity related variables were compared to evaluate if there was any significant difference between the normal and increased BMI group. The only significant result was that hypertension is more prevalent in sickle patients with increased BMI as compared to sickle patients with a normal BMI (p value=0.01). A larger sample would be useful to compare other variables such as cardiac, neurological, and diabetic complications. Based on this sample, there was no significant correlation found between increased BMI and the other comorbidities of obesity. From this retrospective chart review, it can be deduced that the incidence of obesity and overweight status is increasing among sickle cell patients similar to the general population. It can also be noted that patients who fall within the normal BMI range have fewer admissions overall. There is limited data on adult obese sickle cell patients and the complications associated with it. Further studies are needed to analyze how the trend in increased BMI has affected sickle cell outcomes. Our goal is to make clinicians aware of the rise in BMI in sickle cell patients and to improve patient care by addressing weight status in these patients. Table 1: comparison of weight weight status with variables such as age, BMI, and # of admissions Variables Underweight BMI<18.5 Normal weight BMI 18.5-24.9 Overweight BMI 25-29.9 Obese BMI >30 Average age (yrs) 40.75 28.4 38.7 39.2 Average BMI 16.7 21.9 26.3 33.2 Median # of admissions 51 4 3.5 3 Figure 1: inverse relationship between BMI and # of admissions over a 3 yr period. Figure 1:. inverse relationship between BMI and # of admissions over a 3 yr period. Figure 2: obesity related complications Figure 2:. obesity related complications Disclosures No relevant conflicts of interest to declare.

The study demonstrated -857C/T (rs1799724) polymorphism may not have influenced RA susceptibility in our study group. However, investigations of genetic variability influence on disease outcome in large prospective cohorts are required, so the complicated interconnection of genetic and environmental elements can be emulated for better understanding.

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RBR 208 1-4 Como citar este artigo: John P, et al. Estudo caso-controle do polimorfismo do gene receptor da vitamina D em pacientes paquistaneses com artrite reumatoide. Rev Bras Reumatol. 2015. http://dx.RBR 208 1-4 r e v b r a s r e u m a t o l . 2 0 1 5;x x x(x x):xxx-xxx w w w . r e u m a t o l o g i a . c o m . b r informações sobre o artigo Histórico do artigo: Recebido em 13 de maio de 2014 Aceito em 28 de janeiro de 2015 Palavras-chave: Artrite reumatoide Paquistão Vitamina D Polimorfismo r e s u m o O papel do receptor da vitamina D (VDR) já é bastante conhecido em uma série de transtornos metabólicos e na regulação da inflamação. Um dos genes candidatos na artrite reumatoide (AR) é o VDR. O objetivo deste estudo foi determinar a associação do polimorfismo rs1544410 do VDR com AR em pacientes paquistaneses. Foram incluídos no estudo 200 indivíduos (100 pacientes com AR e 100 controles saudáveis) e a genotipagem foi feita com o uso de ARMS--PCR para a inspeção do polimorfismo rs1544410. Em seguida, os dados foram analisados com o auxílio do software Graphpad Prism 6 V. Não foi observada diferença estatisticamente significativa na distribuição alélica entre os dois grupos, pois foi constatado que o valor de X 2 era = 5.662, com uma probabilidade de erro (valor p) = 0,0590. Pela primeira vez, a associação de rs1544410 com AR foi explorada em amostras paquistanesas. Não obstante, nossos achados oferecem evidências de que não houve associação significativa de rs1544410 com AR no grupo estudado. Pakistan Vitamin D Polymorphism a b s t r a c tRole of vitamin D receptor (VDR) has been well-known in variety of metabolic disorders and in regulation of inflammation. One of the candidate gene of rheumatoid arthritis (RA) is VDR. The intention of this study was to determine the association of VDR polymorphism rs1544410 with RA in Pakistani patients. A total of 200 subjects were recruited in the study (100 AR patients and 100 healthy controls) and genotyping was accomplished using * Autor para correspondência.