First genetic analysis in Tunisian familial adenomatous polyposis probands

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. The APC gene (adenomatous polyposis coli) is considered as the major mutated gene in FAP. It has been shown that biallelic germline mutations in the base-excision-repair gene MYH can be responsible for a recessive inheritance of adenomatous polyposis (AP). This study is the first Tunisian genetic analysis on AP patients. Multiplex ligation-dependent probe amplification (MLPA) was used to screen the APC gene for large genomic rearrangements. The total APC and MYH exon sequences and exon-intron edges were sequenced in an effort to detect germline mutations, four were explored. Mutations were detected in four patients that fulfil the clinical criteria of AP. Three mutations were found in the APC gene, of which two were novel (c.1636_1639delAGTG and c.2514 G>T) and all gave rise to a truncated APC protein. The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP. Our preliminary study provides a basis for implementation of genetic counselling for AP.     

Disappearing and reappearing differences in drug‐eluting stent use by race

Rationale, aims and objectives Drug‐eluting coronary stents (DES) rapidly dominated the marketplace in the United States after approval in 2003, but utilization rates were initially lower among African American patients. We assess whether racial differences persisted as DES diffused into practice. Methods Medicare claims data were used to identify coronary stenting procedures among elderly patients with acute coronary syndromes (ACS). Regression models of the choice of DES versus bare mental stent controlled for demographics, ACS type, co‐morbidities and hospital characteristics. Diffusion was assessed in the short run (2003–2004) and long run (2007), with the effect of race calculated to allow for time‐varying effects. Results The sample included 381 887 Medicare beneficiaries treated with stent insertion; approximately 5% were African American. Initially (May 2003–February 2004), African American race was associated with lower DES use compared to other races (44.3% versus 46.5%, P < 0.01). Once DES usage was high in all patients (March–December 2004), differences were not significant (79.8% versus 80.3%, P = 0.45). Subsequent concerns regarding DES safety caused reductions in DES use, with African Americans having lower use than other racial groups in 2007 (63.1% versus 65.2%, P < 0.01). Conclusions Racial disparities in DES use initially disappeared during a period of rapid diffusion and high usage rates; the reappearance of disparities in use by 2007 may reflect DES use tailored to unmeasured aspects of case mix and socio‐economic status. Further work is needed to understand whether underlying differences in race reflect decisions regarding treatment appropriateness.     

A prospective study examining balance confidence among individuals with lower limb amputation

Purpose:?In this study we assessed whether balance confidence scores changed over a 2-year follow up period, and identified predictors of balance confidence and predictors of change in balance confidence among lower limb amputees.

Method:?A prospective follow-up survey of 245 community living adults with unilateral below and above knee lower limb amputation who used their prosthetic limb daily was conducted. Balance confidence, assessed using the 16-item Activity-specific Balance Confidence (ABC) Scale, socio-demographic, health and amputation related variables were collected at baseline and 2 years later.

Results:?ABC scores were similar at baseline (mean?= 67.6; SD?=?25.7) and follow up (mean?=?68.0; SD?=?25.8). Lower balance confidence scores at follow up were predicted by older age, being female, use of a mobility device, poor perceived health, increased symptoms of depression, having to concentrate while walking, and fear of falling (all p?<?0.05). Predictors of change in balance confidence included gender and perceived health (all p?<?0.05).

Conclusion:?Balance confidence appears to be a persistent problem in the amputee population. Health professionals are encouraged to consider balance confidence as a potentially important variable that may influence function in this clinically unique group of individuals. The identified predictor variables may be useful to clinicians in targeting individuals who require attention to improve balance confidence.     

Pupil Dilation May Affect Retinal Vessel Caliber Measures

Purpose: To assess the effect of pupil dilation on measures of retinal vessel caliber.

Design: Observational study with self-comparisons

Methods: Retinal photographs were taken for both eyes of 25 subjects before and after pupil dilation. Three photographic graders, masked to pupil dilation status, measured the same set of images using a computer-assisted, semi-automatic method. We compared means (standard deviations) of retinal arteriolar caliber equivalent (CRAE) and retinal venular caliber equivalent (CRVE) of the same eyes between pre- and post-dilation images. We assessed concordance correlation coefficients (CC), Bland Altman limits-of-agreements, and used linear mixed models to assess CRAE and CRVE measures associated with pupil dilation (influencing image quality), graders (observers) and right-left eye variation.

Results: We found high CCs for CRAE (0.82-0.94) and CRVE (0.87-0.94) between pre- and post-dilation images of the same eyes across the graders. Bland Altman plots showed that mean differences ranged from 0.55-3.42μm for CRAE and 1.56-2.29μm for CRVE. After adjusting for right-left eye random variation, a significant fixed effect of dilation was evident in mean CRAE in two of the three graders. There was no significant fixed effect of dilation in mean CRVE across all graders. In models including data of both eyes’ measures from pre- and post-dilation images by three graders, the fixed effect for dilation status contributed significantly to CRAE and CRVE variances whereas random effects for graders and dilation status contributed minimally.

Conclusions: Contrary to our hypothesis, we found a systematic effect of pupil dilation on retinal vessel caliber measures.     

Incidence Trend for Non-Hodgkin Lymphoma in the North Tunisian Population, 1998-2009

Background: In 2008, non-Hodgkin lymphoma ranked tenth among other malignancies worldwide with an incidence of around 5 cases per 100,000 in both genders. The latest available rates in Tunisia are from 2006. Materials and Methods: This study aimed to provide an update about NHL incidence for 2009 and its trend between 1998 and 2009 as well as a projection until 2024, using data from the Salah Azaiz Institute hospital registry and the Noth Tunisia cancer registry. Results: In 2009, the NHL incidence in the north of Tunisia was 4.03 cases per 100,000, 4.97 for men and 3.10 for women. Diffuse large B-cell lymphoma (DLBCL) accounted for 63.2% of all NHL subtypes. Between 1998 and 2009, the overall trend showed no significant change. When we compared the trend between two periods (1998-2005 and 2005-2009), joinpoint regression showed a significant decrease of NHL incidence in the first period with an annual percentage change (APC) of -6.7% (95% CI:[-11.2%;-2%]), then the incidence significantly increased from 2005 to 2009 with an APC of 30.5% (95% CI: [16.1%; 46.6%]. The analyses of the different subtype trends showed a significant decrease in DLBCL incidence between 1998 and 2000 (APC:-21.5; 95% CI: [-31.4%;-10.2%]) then the incidence significantly increased between 2004 and 2007 (APC: 18.5; 95% CI: [3,6%;35.5%]). Joint point analysis of the age-period-cohort model projection showed a significant increase between 2002 and 2024 with an APC of 4.5% (%95 CI: [1.5%; 7.5%]). The estimated ASR for 2024 was 4.55/100 000 (95% CI: [3.37; 6.15]). Conclusions: This study revealed an overall steady trend in the incidence of NHL in northern Tunisia between 1998 and 2009. Projection showed an increase in the incidence in NHL in both genders which draw the attention to the national and worldwide burden of this malignancy.     

Seroprevalence of HIV,hepatitis b,and hepatitis c among opioid drug users on methadone treatment in the netherlands

Background  

Injecting drug users (IDU) remain an important population at risk for blood-borne infections such as human immunodeficiency virus (HIV), hepatitis B virus (HBV) and hepatitis C virus (HCV). In the Netherlands, a program is being implemented to offer annual voluntary screening for these infections to opioid drug users (ODUs) screened in methadone care. At two care sites where the program is now operating, our study aimed to estimate the seroprevalence among ODUs screened for HIV, HBV and HCV; to evaluate HBV vaccination coverage; and to assess the feasibility of monitoring seroprevalence trends by using routine annual screening data.