Lower Atherosclerotic Burden in Familial Abdominal Aortic Aneurysm

OBJECTIVE: Despite the apparent familial tendency toward abdominal aortic aneurysm (AAA) formation, the genetic causes and underlying molecular mechanisms are still undefined. In this study, we investigated the association between familial AAA (fAAA) and atherosclerosis. METHODS: Data were collected from a prospective database including AAA patients between 2004 and 2012 in the Erasmus University Medical Center, Rotterdam, The Netherlands. Family history was obtained by written questionnaire (93.1% response rate). Patients were classified as fAAA when at least one affected first-degree relative with an aortic aneurysm was reported. Patients without an affected first-degree relative were classified as sporadic AAA (spAAA). A standardized ultrasound measurement of the common carotid intima-media thickness (CIMT), a marker for generalized atherosclerosis, was routinely performed and patients' clinical characteristics (demographics, aneurysm characteristics, cardiovascular comorbidities and risk factors, and medication use) were recorded. Multivariable linear regression analyses were used to assess the mean adjusted difference in CIMT and multivariable logistic regression analysis was used to calculate associations of increased CIMT and clinical characteristics between fAAA and spAAA. RESULTS: A total of 461 AAA patients (85% men, mean age, 70 years) were included in the study; 103 patients (22.3%) were classified as fAAA and 358 patients (77.7%) as spAAA. The mean (standard deviation) CIMT in patients with fAAA was 0.89 (0.24) mm and 1.00 (0.29) mm in patients with spAAA (P = .001). Adjustment for clinical characteristics showed a mean difference in CIMT of 0.09 mm (95% confidence interval, 0.02-0.15; P = .011) between both groups. Increased CIMT, smoking, hypertension, and diabetes mellitus were all less associated with fAAA compared with spAAA. CONCLUSIONS: The current study shows a lower atherosclerotic burden, as reflected by a lower CIMT, in patients with fAAA compared with patients with spAAA, independent of common atherosclerotic risk factors. These results support the hypothesis that although atherosclerosis is a common underlying feature in patients with aneurysms, atherosclerosis is not the primary driving factor in the development of fAAA.

Adolescents and School Asthma Knowledge and Attitudes

Introduction: bronchial asthma is a chronic disease that affects a high percentage of adolescents, with a significant restriction of daily activities, and is a cause of school absenteeism. The relationships between adolescents and asthma disease in school were assessed, with a view to improving knowledge about the asthmatic adolescent. Methods: a survey was conducted in the Lisbon metropolitan area, covering urban (Lisbon) and rural (Lourinh˜a ) zones and including 1879 students and 81 teachers from the 7th to 9th high school years. The study groups were asthmatic students, their peers, and teachers. A self-administered questionnaire was applied to collect information. The results were compared with a reference group of 91 asthmatic students attending our Department of Immunoallergy-Hospital Dona Estefânia. Cotinine urinary measurements were made in a sample of asthmatics and a control group. Results: the prevalence of current asthma among students was 10%. Estimates of asthma annual burden among 7th to 9th year students from Lisbon and Lourinh˜a high schools included 4,307 days missed from school, 4,148 medical consultations and a minimum of 351 hospital emergency care and 80 hospital admissions. Exposure to passive smoking was not significantly different between asthmatic students and theirs peers. Cotinine urinary measurements did not discriminate between exposed and non-exposed individuals. Cigarette smoking was almost as common among adolescent asthmatics (5.4%) as it was in non-asthmatic subjects (6.7%). However, 55% of asthmatics mentioned active and passive smoking as an asthma exacerbating factor. Asthmatic students, theirs peers and teachers showed a deficient knowledge about asthma (mean group scores: 17.6; 14.2 and 17.7 of a possible 30), particularly in the areas related to asthma recognition and its management. Asthmatics attending our Allergy Department had the highest scores. All groups showed tolerance in the sense of a positive and understanding attitude toward a person with asthma. However, traditional beliefs about asthma disease (dependence, inferiority...) were confirmed. A positive correlation between knowledge levels and tolerance attitudes was found. Conclusion: in view of the dimension of the asthma problem in adolescence and its social and economic impact, it is justifiable to assess the need for the implementation of asthma education programs in schools in order to improve asthma management by the adolescents and their schools.

Úlceras de Perna em Portugal: um Problema de Saúde Subestimado

To determine the prevalence and aetiology of leg ulceration in a population of patients registered with five health centres within Lisbon, a study was undertaken to identify patients receiving care from community and hospital. Identification of patients was through health professionals, with a simple questionnaire completed for all patients identified who were registered with the five health centres. In 263 patients were identified in a population of 186,000 (total prevalence 1.41/1,000 population). The prevalence was similar between men and women (1.3 and 1.46/1,000, respectively). As expected this was highly age dependent, being most common in patients aged over 80 years (6.5 and 4.9/1,000, respectively). The ulceration was highly chronic in nature, with median ulceration of 18 months. Of the 240 with ulcer duration recorded, 158 (66%) had the present ulcer for longer than one year, and 40 (17%) for longer than five years. The cause of ulceration was unknown to the health professional treating the patient in 86 (33%) of the cases. Of those with a cause, most commonly this was venous (80%) with 10% mixed arterial/venous ulceration and 3% frank arterial disease. Most care was provided by community services, with 145 (55%) treated in health centres and 77 (29%) treated in the patient's home. The mean number of treatments per week was 3.0, with 21 (9%) of patients being seen on a daily basis. Most patients (80%) had seen a specialist doctor for their ulceration, most often a dermatologist (48%) and a vascular surgeon (33%). The prevalence of chronic leg ulceration is similar to other reported studies in western Europe, and indicates that approximately 14,000 patients suffer from leg ulceration at any one time in Portugal. This produces a high burden on both hospital and community services.

A Rat Model of Diabetic Wound Infection for the Evaluation of Topical Antimicrobial Therapies

Diabetes mellitus is an epidemic multisystemic chronic disease that frequently is complicated by complex wound infections. Innovative topical antimicrobial therapy agents are potentially useful for multimodal treatment of these infections. However, an appropriately standardized in vivo model is currently not available to facilitate the screening of these emerging products and their effect on wound healing. To develop such a model, we analyzed, tested, and modified published models of wound healing. We optimized various aspects of the model, including animal species, diabetes induction method, hair removal technique, splint and dressing methods, the control of unintentional bacterial infection, sampling methods for the evaluation of bacterial burden, and aspects of the microscopic and macroscopic assessment of wound healing, all while taking into consideration animal welfare and the '3Rs' principle. We thus developed a new wound infection model in rats that is optimized for testing topical antimicrobial therapy agents. This model accurately reproduces the pathophysiology of infected diabetic wound healing and includes the current standard treatment (that is, debridement). The numerous benefits of this model include the ready availability of necessary materials, simple techniques, high reproducibility, and practicality for experiments with large sample sizes. Furthermore, given its similarities to infected-wound healing and treatment in humans, our new model can serve as a valid alternative for applied research.

Effects of a Shortage of Imiglucerase on Three Patients with Type I Gaucher Disease

Background: Children with Gaucher disease type I (GD1) are usually treated with enzyme replacement therapy (ERT) at a dose of 30-60U/Kg/2W. Recently, due to an acute shortage supply of imiglucerase, a reduced dose or a reduced infusion frequency was recommended. Objective: To evaluate the effects of a reduced infusion frequency of imiglucerase over 15 months of follow-up. Patients and Methods: Three patients (1M:2F) were treated with ERT since a median age of 7 years (range 5-12). Only one had bone crisis and Erlenmeyer deformations. Median duration of treatment before dose reduction was 3 years (range 1-8). ERT resulted in total regression of symptoms, normalization of hematological parameters and progressive improvement of chitotriosidase in all patients. In August 2009 infusion schedule was changed from a media 45U/Kg every two weeks to every four weeks. Results: All patients remained asymptomatic and with no major change on hematological parameters except for the patient with bone crisis who presented subnormal platelet count. All patients showed an upward trend in chitotriosidase values. Comments: Although a longer follow-up is needed, is probable that even children completely stabilized can probably not be kept on lower doses even though the reduction of frequency of the infusions represent a lower social burden.

Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID) who developed disseminated BCG disease, highlighting the specific strategies adopted.

HCV Infection in Patients with Hereditary Bleeding Disorders

Introduction: Hepatitis C virus (HCV) infection in patients with hereditary bleeding disorders (HBDs), as a consequence of treatment with transfusion of human bloodderived components between the late 1970s and 1980s, represents a major health concern. Objectives: Assessment and evaluation of the burden of HCV infection, its complications, and treatment in a population of patients with HBDs. Methods: Analysis of a series of 161 patients with HBDs treated in the Immunohemotherapy Service of the Centro Hospitalar de Lisboa Central (Lisboa, Portugal), consultation and systematic review of the patients clinical processes, elaboration of a database comprising the information gathered; and statistical study of its variables: age, gender, degree of severity of the bleeding disorder, treatment modality, and major and minor complications of HCV infection. Results: Sixty-five (40%) of the 161 patients have HCV infection. Among the patients with hemophilia A, 36% are severe and 62% of those have HCV infection; 9% moderate with 57%; 25% mild with 20%. In the hemophilia B group, 8% are severe with 23% infected and 6% moderate or mild with 10%. Concerning the patients with von Willebrand disease, 12% have type 2 with 16% infected and 4% have type 3 with 86%. Conclusions: HCV infection represents a very significant complication of the treatment employed in the past in the studied population. Considering that most of these patients were infected in the late 1970s and early 1980s, and the natural evolution of HCV infection in patients without bleeding disorders, it is expected that the prevalence of major complications will rise significantly in the coming years. Prophylactic measures should be implemented to enhance the follow-up protocols and prevent further development of liver damage in these patients.

Cancer Rehabilitation Indicators for Europe

Little is known of cancer rehabilitation needs in Europe. EUROCHIP-3 organised a group of experts to propose a list of population-based indicators used for describing cancer rehabilitation across Europe. The aim of this study is to present and discuss these indicators. A EUROCHIP-3 expert panel reached agreement on two types of indicators. (a) Cancer prevalence indicators. These were proposed as a means of characterising the burden of cancer rehabilitation needs by time from diagnosis and patient health status. These indicators can be estimated from cancer registry data or by collecting data on follow-up and treatments for samples of cases archived in cancer registries. (b) Indicators of rehabilitation success. These include: return to work, quality of life, and satisfaction of specific rehabilitation needs. Studies can be performed to estimate these indicators in individual countries, but to obtain comparable data across European countries it will be necessary to administer a questionnaire to randomly selected samples of patients from population-based cancer registry databases. However, three factors complicate questionnaire studies: patients may not be aware that they have cancer; incomplete participation in surveys could lead to bias; and national confidentiality laws in some cases prohibit cancer registries from approaching patients. Although these studies are expensive and difficult to perform, but as the number of cancer survivors increases, it is important to document their needs in order to provide information on cancer control.

Achondroplasia and Down’s Syndrome – Case Report of a Rare Association

The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.

Under-Report and Underdiagnosis of Chronic Respiratory Diseases in an African Country

BACKGROUND: Chronic respiratory diseases (CRD) are greatly underestimated. The aim of this study was to assess the burden associated with reported CRD and chronic obstructive pulmonary disease, as defined on the basis of various standardized criteria, by estimating their point prevalence in a sample of individuals attending the Primary Health Care (PHC) level and Emergency Room (ER) Departments in Cape Verde (CV) archipelago. The second aim of the study was to identify factors related to airways obstruction and reported CRD in this population. METHODS: A cross-sectional study was carried out in CV during 2 weeks. Outpatients aged more than 20 years seeking care at PHC level and ER answered a standardized questionnaire and were subjected to spirometry, independently of their complaint. Two criteria for airways obstruction were taken into account: forced expiratory volume (FEV(1)) <80% of the predicted value and FEV(1)/forced vital capacity (FVC) ratio <0.70. RESULTS: A total of 274 individuals with a satisfactory spirometry were included. 22% of the individuals had a FEV(1) < 80%. Individuals older than 46 years had a higher risk of having airways obstruction. Asthma diagnosis (11%) had a clear association with airways obstruction. Smoking was a risk factor for a lower FEV(1). Working in a dust place and cooking using an open fire were both related to chronic bronchitis and asthma diagnosis. CONCLUSION: Under-report and underdiagnosis of chronic respiratory conditions seem to be a reality in CV just as in other parts of the world. To improve diagnosis, our results reinforce the need of performing a spirometry