CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease.

Variations in lipid profile have been observed in sickle cell disease (SCD) and understanding their relationship with disease severity is crucial. This study aimed to investigate the association of polymorphisms of the CETP gene and laboratory markers of disease severity with lipid profile in a pediatric population with SCD. Biochemical and anthropometric analyses and CETP and alpha-thalassemia genotyping were performed. The study included 133 children and adolescents with sickle cell anemia (SCA) or hemoglobin SC disease (SCC), in steady-state. The SCA and no hydroxyurea (no HU) groups had higher values of ApoB, total cholesterol, low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) compared to the SCC and HU groups. However, there were no significant differences in ApoA1 and HDL-C levels between the groups based on genotype. Furthermore, the groups with altered levels of ApoA1, HDL-C, and the triglyceride/HDL ratio exhibited lower hemoglobin (Hb) levels and higher white blood cell counts. Hb level was associated to HDL-C levels. Analysis of CETP gene variants showed that the minor alleles of rs3764261 (C>A), rs247616 (C>T), and rs183130 (C>T), as well as the TTA haplotype, are explanatory variables for HDL-C levels. These findings suggested that dyslipidemia in SCD, specifically related to HDL-C levels, may be influenced by individual genetic background. Additionally, further investigation is needed to determine if clinical manifestations are impacted by CETP gene variants.

CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease

Variations in lipid profile have been observed in sickle cell disease (SCD) and understanding their relationship with disease severity is crucial. This study aimed to investigate the association of polymorphisms of the CETP gene and laboratory markers of disease severity with lipid profile in a pediatric population with SCD. Biochemical and anthropometric analyses and CETP and alpha-thalassemia genotyping were performed. The study included 133 children and adolescents with sickle cell anemia (SCA) or hemoglobin SC disease (SCC), in steady-state. The SCA and no hydroxyurea (no HU) groups had higher values of ApoB, total cholesterol, low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) compared to the SCC and HU groups. However, there were no significant differences in ApoA1 and HDL-C levels between the groups based on genotype. Furthermore, the groups with altered levels of ApoA1, HDL-C, and the triglyceride/HDL ratio exhibited lower hemoglobin (Hb) levels and higher white blood cell counts. Hb level was associated to HDL-C levels. Analysis of CETP gene variants showed that the minor alleles of rs3764261 (C>A), rs247616 (C>T), and rs183130 (C>T), as well as the TTA haplotype, are explanatory variables for HDL-C levels. These findings suggested that dyslipidemia in SCD, specifically related to HDL-C levels, may be influenced by individual genetic background. Additionally, further investigation is needed to determine if clinical manifestations are impacted by CETP gene variants.

Sporadic Abdominal Wall Desmoid type Fibromatosis: treatment paradigm after thirty two years.

BACKGROUND: Desmoid-type fibromatosis is a benign mesenchymal neoplastic process. It exhibits an uncertain growth pattern and high recurrence rate. Previously radical surgical resection was the mainstay of treatment, but recently more surgeons are opting for conservative management with observation ("wait and see" policy). The authors intend to evaluate different therapeutic modalities and oncological outcomes for abdominal wall desmoid tumors. METHODS: We performed a retrospective study of patients who underwent surgical, hormonal or chemotherapy treatment for abdominal wall desmoid tumors between 1982 to 2014 at two institutions affiliated with the University of São Paulo, Brazil. RESULTS: In the study period, 32 patients were included. Twenty-seven patients had surgery upfront. Of those, 89% were women with a median age of 33 years. Mean tumor size was 10 cm. Pathology confirmed free margins in 92% of resections. Tumor recurrence rate was 11%, with median relapse-free survival being 24 months. Multivariate analysis showed that positive final margins (p < 0.001) and positive frozen section (p = 0.001) were independent predictors of recurrence. For the 5 patients who underwent pharmacological therapy, median age was 33 years and median tumor diameter before treatment was 13 cm. Four patients exhibited partial response by Response Evaluation Criteria in Solid Tumors (RECIST). The single patient who did not respond to RECIST underwent radiotherapy. CONCLUSION: Desmoid tumor treatment has been evolving over the past decade towards a more conservative approach. Pharmacological treatment may result in tumor size regression. When surgical excision is indicated, positive margins represent an important prognostic factor for local tumor recurrence.

Cuidando dos cuidadores: implantação de um programa multidisciplinar de acolhimento dos familiares no Hospital Geral de Pirajussara / Caregivers caring: family humanization multidisciplinary program at Hospital Geral de Pirajussara

Segundo a Política Nacional de Saúde do Idoso, um cuidador é "A pessoa, membro ou não da família, que, com ou sem remuneração, cuida do idoso doente ou dependente no exercício de suas atividades diárias, tais como alimentação, higiene pessoal, medicação de rotina, acompanhamento ao serviço de saúde e demais serviços requeridos no cotidiano - como a ida a bancos ou farmácias-, excluídas as técnicas ou procedimentos identificados com profissões legalmetne estabelecidas, particularmente na área de enfermagem". A família costuma ser a principal origem do cuidador e as mulheres adultas e idosas preponderam nestes cuidados. O adoecimento gera crises e momentos de desestruturação para o paciente e seus familiares. Muitas mudanças ocorrem na vida do doente, levando-o a se deparar com limitações, frustações e perdas. Essas mudanças serão definidas pelo tipo de doença, maneira que a doença se manifesta e como segue os seu curso, além do significado que o paciente e família abribuem ao evento. A família necessita se reorganizar e também se adaptar, pois o paciente pode precisar de cuidados. Os papéis e funções devem ser repensados e distribuídos de forma que auxilie o paciente na elaboração de sentimentos confusos e dolorosos ocasionados pelo processo de adoecer. Field e McGaughey apontam alguns problemas dos cuidadores tais como: pobre comunicação médica, tempo de consulta médica imprevisível, cuidado de enfermagem insuficiente e falta de conhecimento do cuidador sobre os cuidados do...

The use of silicone expander and cecal transposition after pelvic exenteration.

AIMS: Describe a new approach for pelvic floor treatment employing a temporary mechanical support device with silicone expander, with or without association to cecal transposition. METHODS: From January 2000 to June 2006, 106 patients were submitted to pelvic exenteration. A retrospective evaluation was done of the last 30 patients previously submitted to total pelvic exenteration without neither urinary nor faecal sphincter preservation who latter were submitted to a pelvic floor treatment with silicone expander with or without association to cecal rotation. RESULTS: Twenty-six patients were female and four male. The most common primary neoplasm site were of gynecological origin (20 cases). The median follow-up period was 12 months (0.36-38). Only one patient presented small intestine loops slipping after expander removal. No other patient had small intestine loops slippage into the pelvis, probably because of cecal transposition. All patients were submitted to a post-operative CT scan to confirm that intestinal loops remained out of the pelvis. Six patients presented pelvic hollow infection after device removal. All cases had complete resolution with local cleaning using physiological solution associated with systemic antibiotic therapy, except one who needed a trans-abdominal surgical approach. CONCLUSIONS: Pelvic floor treatment employing a temporary mechanical support device with silicone expander, associated or not to cecal transposition is a low-morbidity procedure. The most common complication is pelvic floor infection, but maintaining a cutaneous perineal hole allows easy access and treatment of possible pelvic abscesses as well as early recurrence diagnosis.

Prognostic and predictive value of the thymidylate synthase expression in patients with non-metastatic colorectal cancer.

AIMS: To assess the value of thymidylate synthase (TS) expression as a predictive factor in the efficacy of adjuvant chemotherapy in colorectal cancer, as well as its independent prognostic value for survival. METHODS: We studied 114 high risk colorectal carcinoma patients (high risk stage II and stage III), distributed in two treatment groups: surgery alone (61 patients) or surgery followed by 5-FU-based chemotherapy (53 patients). TS protein expression in the tumour tissue was assessed by immunohistochemistry. RESULTS: In the surgery alone subgroup, overall survival (OS) at 5 years were 77.5% for the patients with low TS expression, against 57.7% for the patients with high TS expression (p=0.006). Among patients with low TS, there was no difference in OS as a result of whether adjuvant chemotherapy was carried out or not (65.8 vs 77.5%, p=0.29). Among the patients with high TS, there was a significant gain in OS in favor of chemotherapy (87.8 vs 57.7%, p=0.04). Analyzing the complete sample, TS expression was not shown as an independent prognostic factor for survival in the multivariate analysis. CONCLUSIONS: The immunohistochemical TS expression may be used for selecting patients for better adjuvant chemotherapy protocols. In this sample, TS expression was not an independent prognostic factor for survival.