A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia

The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non-allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.     

Consistencia interna y validez de la versión española del cuestionario de calidad de vida específico para el síndrome de apnea del sueño: Sleep Apnoea Quality of Life Index

Introduction

The objective of the present study was to validate the Spanish version of the SAQLI, which is a health-related quality of life (HRQL) questionnaire specific for sleep apnea-hypopnea syndrome (SAHS), and to assess its sensitivity to change.

Material and methods

A multicenter study performed in a group of patients with SAHS (apnea-hypopnea index [AHI] ≥5) who had been referred to the centers’ Sleep Units. All patients completed the following questionnaires: SF-36, FOSQ, SAQLI and Epworth scale. The psychometric properties (internal consistency, construct validity, concurrent validity, predictive value, repeatability and responsiveness to change) of the SAQLI were assessed (four domains: daily function, social interactions, emotional function and symptoms; an optional fifth domain is treatment-related symptoms).

Results

One hundred sixty-two patients were included for study (mean age: 58 ± 12; Epworth: 10 ± 4; BMI: 33 ± 5.9 kg m⁻²; AHI: 37 ± 15 hour⁻¹). The factorial analysis showed a construct of four factors with similar distribution to the original questionnaire domains. Internal consistency (Cronbach's alpha between 0.78 and 0.82 for the different domains), concurrent validity for SF-36, Epworth scale and FOSQ, and test-retest reliability were appropriate. The predictive validity of the questionnaire showed no significant correlations with the severity of SAHS. SAQLI showed good sensitivity to change in all the domains of the questionnaire (p < 0,01).

Conclusions

The Spanish version of the SAQLI is a valid HRQL measurement with appropriate psychometric properties for use in patients with SAHS and it is sensitive to change.     

Morphologic features of endometriosis in various types of cytologic specimens

Endometriosis is defined as the presence of endometrial tissue outside the uterine cavity. This study evaluates the cytomorphologic features of endometriosis in various cytologic specimen types [fine‐needle aspiration (FNA), effusion cytology (EF), touch imprint (ToP), and cervical smear (PAP)], and assesses the key elements helpful in recognizing this lesion. A total of 18 cases (8 FNA, 4 EF, 5 ToP, and 1 PAP) of cytologically diagnosed and histologically/clinically confirmed endometriosis diagnosed between 1988 and 2006 comprises the material for this study. The morphologic features evaluated of the three components included: cellularity, presence of sheets of glandular cells, three‐dimensional (3D) glandular clusters, tubular structures, single cells, syncytial groups of stromal cells, stromal cells entrapped within basement membrane (BM)‐like material, cytologic atypia, presence of mitotic figures, and hemosiderin‐laden histiocytes. Endometrial glands, stroma, and hemosiderin‐laden histiocytes were all identified in 14/18 (77.8%) cases. FNA specimens were more cellular than that of both EF and ToP specimens. Tubular structures, 3D glandular clusters, stromal cells entrapped in BM and syncytial stromal groups were more common in FNAs, and ToPs compared with the EFs. The ratio of the endometrial glandular and stromal cells was similar in all specimen types. Atypia and mitotic figures were rarely encountered. Diagnosis of endometriosis could be made independently on either smears/ThinPrep^? slides or on cell blocks in all cases where these preparations were available. On follow up, none of the patients developed malignancy. Endometriosis can be reliably and safely diagnosed in various cytologic materials. Cytologic atypia is uncommon. Components of endometriosis could show minor morphologic alterations in different specimen types. Diagn. Cytopathol. 2013;41:936–942. © 2013 Wiley Periodicals, Inc.     

Rifaximin, but not growth factor 1, reduces brain edema in cirrhotic rats

AIM: To compare rifaximin and insulin-like growth factor (IGF)-1 treatment of hyperammonemia and brain edema in cirrhotic rats with portal occlusion.METHODS: Rats with CCl₄-induced cirrhosis with ascites plus portal vein occlusion and controls were randomized into six groups: Cirrhosis; Cirrhosis + IGF-1; Cirrhosis + rifaximin; Controls; Controls + IGF-1; and Controls + rifaximin. An oral glutamine-challenge test was performed, and plasma and cerebral ammonia, glucose, bilirubin, transaminases, endotoxemia, brain water content and ileocecal cultures were measured and liver histology was assessed.RESULTS: Rifaximin treatment significantly reduced bacterial overgrowth and endotoxemia compared with cirrhosis groups, and improved some liver function parameters (bilirubin, alanine aminotransferase and aspartate aminotransferase). These effects were associated with a significant reduction in cerebral water content. Blood and cerebral ammonia levels, and area-under-the-curve values for oral glutamine-challenge tests were similar in rifaximin-treated cirrhotic rats and control group animals. By contrast, IGF-1 administration failed to improve most alterations observed in cirrhosis.CONCLUSION: By reducing gut bacterial overgrowth, only rifaximin was capable of normalizing plasma and brain ammonia and thereby abolishing low-grade brain edema, alterations associated with hepatic encephalopathy.     

Translation of the Diabetes Prevention Program’s Lifestyle Intervention: Role of Community Health Workers

Approximately 8.3% of the US population has diabetes and estimates indicate that 79 million adults have prediabetes and 33.8% are obese, increasing their risk of diabetes. The national Diabetes Prevention Program (DPP) and subsequent translation studies have demonstrated the efficacy of the DPP lifestyle intervention (DPPLI) on lowering weight and reducing risk of type 2 diabetes over 10 years. Innovative strategies are needed to translate the DPPLI to reach people at risk of diabetes. Community health workers represent a group of individuals poised to play a role in supporting the translation of the DPPLI, especially in underserved populations. This article aims to 1) describe community health workers in general; 2) describe their role and impact on diabetes care in general; and 3) provide a detailed overview of studies involving community health workers in the translation of the DPPLI.     

Effectiveness of collaborative care for depression in Italy. A randomized controlled trial

Trial design

This was a multicenter cluster-randomized controlled trial.

Participants

A total of 227 patients ≥ 18 years old with a new onset of depressive symptoms who screened positive on the first two items of the Patient Health Questionnaire-9 (PHQ-9) were recruited by primary care physicians (PCPs) of eight health districts of three Italian regions from September 2009 to June 2011.

Intervention

PCPs of the intervention group received a specific collaborative care program including 2 days of intensive training, implementation of a stepped care protocol, depression management toolkit and scheduled meetings with a dedicated consultant psychiatrist.

Objective

The objective was to determine whether a collaborative care program for depression management in primary care leads to higher remission rate than usual PCP care.

Outcomes

Outcome was clinical remission as expressed on PHQ-9 < 5 at 3 months.

Randomization

An independent researcher used computer-generated randomization to assign involved primary care groups to the two alternative arms.

Blinding

PCPs and research personnel were not blinded.

Results

The 223 PCPs enrolled recruited 227 patients (128 in collaborative care arm, 99 in the usual care arm). At 3 months (n= 210), the proportion of patients who achieved remission was higher, though the difference was not statistically significant, in the collaborative care group. The effect size was of 0.11. When considering only patients with minor/major depression, collaborative care appeared to be more effective than usual care (P= .015).

Conclusions

The present intervention for managing depression in primary care, designed to be applicable to the Italian context, appears to be effective and feasible.     

Association between organic food consumption and metabolic syndrome: cross-sectional results from the NutriNet-Santé study

Purpose

Metabolic syndrome (MetS), a multicomponent condition, is a cardiovascular disease predictor. Although exposure to agricultural pesticides has been suggested as a potential contributor to the rising rates of obesity, type 2 diabetes, and other features of metabolic disorders, no studies have focused on the association between consumption of organic food (produced without synthetic pesticides) and MetS. We aimed to investigate the cross-sectional association between organic food consumption and MetS in French adults to determine whether it would be worth conducting further studies, particularly large prospective and randomised trials.

Methods

A total of 8174 participants from the NutriNet-Santé study who attended a clinical visit and completed an organic food frequency questionnaire were included in this cross-sectional analysis. We evaluated the association between the proportion of organic food in the diet (overall and by food group) and MetS using Poisson regression models while adjusting for potential confounders.

Results

Higher organic food consumption was negatively associated with the prevalence of MetS: adjusted prevalence ratio was 0.69 (95% CI 0.61, 0.78) when comparing the third tertile of proportion of organic food in the diet with the first one (p value <0.0001). Higher consumption of organic plant-based foods was also related to a lower probability of having MetS. In addition, when stratifying by lifestyle factors (nutritional quality of the diet, smoking status, and physical activity), a significant negative association was detected in each subgroup (p values <0.05), except among smokers.

Conclusions

Our results showed that a higher organic food consumption was associated with a lower probability of having MetS. Additional prospective studies and randomised trials are required to ascertain the relationship between organic food consumption and metabolic disorders.

     

Transvaginal color Doppler sonography versus sonohysterography in the diagnosis of endometrial polyps.

OBJECTIVE: To compare the diagnostic performance of transvaginal color Doppler sonography (TVCD) and sonohysterography (SHG) in the diagnosis of endometrial polyps. METHODS: Fifty-one women (mean age, 51 years; range, 27-75 years) with clinical or B-mode sonographic suspicion of endometrial polyps were included in this prospective study. Transvaginal color Doppler sonography first and then SHG were performed in all patients. On TVCD, a polyp was suspected when a vascular pedicle penetrating the endometrium from the myometrium was identified. On SHG, a polyp was suspected when a focal polypoid lesion was seen within the endometrial cavity. All patients underwent hysteroscopy and endometrial biopsy, the findings of which were used as the criterion standard. Sensitivity and specificity for TVCD and SHG were calculated and compared by the McNemar test. RESULTS: Hysteroscopy and endometrial biopsy findings were as follows: endometrial polyps, 41; endometrial hyperplasia, 3; cystic atrophy, 4; proliferative endometrium, 2; and endometritis, 1. Sensitivity and specificity for TVCD and SHG were 95% and 80% and 100% and 80%, respectively (McNemar test, P = .5) CONCLUSIONS: Transvaginal color Doppler sonography and SHG had similar performance for diagnosing endometrial polyps.