Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.

We report on a series of 514 consecutive diagnoses of skeletal dysplasia made over an 8-year period at a tertiary hospital in Kerala, India. The most common diagnostic groups were dysostosis multiplex group (n = 73) followed by FGFR3 (n = 49) and osteogenesis imperfecta and decreased bone density group (n = 41). Molecular confirmation was obtained in 109 cases. Clinical and radiographic evaluation was obtained in close diagnostic collaboration with expert groups abroad through Internet communication for difficult cases. This has allowed for targeted biochemical and molecular studies leading to the correct identification of rare or novel conditions, which has not only helped affected families by allowing for improved genetic counseling and prenatal diagnosis but also resulted in several scientific contributions. We conclude that (1) the spectrum of genetic bone disease in Kerala, India, is similar to that of other parts of the world, but recessive entities may be more frequent because of widespread consanguinity; (2) prenatal detection of skeletal dysplasias remains relatively rare because of limited access to expert prenatal ultrasound facilities; (3) because of the low accessibility to molecular tests, precise clinical-radiographic phenotyping remains the mainstay of diagnosis and counseling and of gatekeeping to efficient laboratory testing; (4) good phenotyping allows, a significant contribution to the recognition and characterization of novel entities. We suggest that the tight collaboration between a local reference center with dedicated personnel and expert diagnostic networks may be a proficient model to bring current diagnostics to developing countries. © 2014 Wiley Periodicals, Inc.

Nursery Practices and Management of Fungal Diseases in Forest Nurseries in Finland : a review

Summary

The epidemiologic transition to chronic diseases in developing countries: cardiovascular mortality, morbidity, and risk factors in Seychelles (Indian Ocean).

The occurrence of cardiovascular diseases (CVD) and related risk factors was evaluated in Seychelles, a middle level income country, as accumulating evidence supports increasing rates of CVD in developing countries. CVD mortality was obtained from vital statistics for two periods, 1984-5 and 1991-3. CVD morbidity was estimated by retrospective review of discharge diagnoses for all admissions to medical wards in 1990-1992. Levels of CVD risk factors in the population were assessed in 1989 through a population-based survey. In 1991-93, standardized mortality rates were in males and females respectively, 80.9 and 38.8 for cerebrovascular disease and 92.9 and 47.0 for ischemic heart disease. CVD accounted for 25.2% of all admissions to medical wards. Among the general population aged 35-64, 30% had high blood pressure, 52% of males smoked, and 28% of females were obese. These findings substantiate the current health transition to CVD in Seychelles. More generally, epidemiologic data on CVD mortality, morbidity, and related risk factors, as well as similar indicators for other chronic diseases, should more consistently appear in national and international reports of human development to help emphasize, in the health policy making scene, the current transition to chronic diseases in developing countries and the subsequent need for appropriate control and prevention programs.

Divergent fifteen-year trends in traditional and cardiometabolic risk factors of cardiovascular diseases in the Seychelles.

OBJECTIVE: Few studies have assessed secular changes in the levels of cardiovascular risk factors (CV-RF) in populations of low or middle income countries. The systematic collection of a broad set of both traditional and metabolic CV-RF in 1989 and 2004 in the population of the Seychelles islands provides a unique opportunity to examine trends at a fairly early stage of the "diabesity" era in a country in the African region. METHODS: Two examination surveys were conducted in independent random samples of the population aged 25-64 years in 1989 and 2004, attended by respectively 1081 and 1255 participants (participation rates >80%). All results are age-standardized to the WHO standard population. RESULTS: In 2004 vs. 1989, the levels of the main traditional CV-RF have either decreased, e.g. smoking (17% vs. 30%, p < 0.001), mean blood pressure (127.8/84.8 vs. 130.0/83.4 mmHg, p < 0.05), or only moderately increased, e.g. median LDL-cholesterol (3.58 vs. 3.36 mmol/l, p < 0. 01). In contrast, marked detrimental trends were found for obesity (37% vs. 21%, p < 0.001) and several cardiometabolic CVD-RF, e.g. mean HDL-cholesterol (1.36 vs. 1.40 mmol/l, p < 0.05), median triglycerides (0.80 vs. 0.78 mmol/l, p < 0.01), mean blood glucose (5.89 vs. 5.22 mmol/l, p < 0.001), median insulin (11.6 vs. 8.3 micromol/l, p < 0.001), median HOMA-IR (2.9 vs. 1.8, p < 0.001) and diabetes (9.4% vs. 6.2%, p < 0.001). At age 40-64, the prevalence of elevated total cardiovascular risk tended to decrease (e.g. WHO-ISH risk score > or =10; 11% vs. 13%, ns), whereas the prevalence of the metabolic syndrome (which integrates several cardiometabolic CVD-RF) nearly doubled (36% vs. 20%, p < 0.001). Data on physical activity and on intake of alcohol, fruit and vegetables are also provided. Awareness and treatment rates improved substantially for hypertension and diabetes, but control rates improved for the former only. Median levels of the cardiometabolic CVD-RF increased between 1989 and 2004 within all BMI strata, suggesting that the worsening levels of cardiometabolic CVD-RF in the population were not only related to increasing BMI levels in the interval. CONCLUSION: The levels of several traditional CVD-RF improved over time, while marked detrimental trends were observed for obesity, diabetes and several cardiometabolic factors. Thus, in this population, the rapid health transition was characterized by substantial changes in the patterns of CVD-RF. More generally, this analysis suggests the importance of surveillance systems to identify risk factor trends and the need for preventive strategies to promote healthy lifestyles and nutrition.

Le cancer est-il une maladie nouvelle? A propos du diagnostic des maladies tumorales dans le De Medicina de Celse [Is cancer a new disease? Apropos of diagnosis of tumor diseases in De Medicina by Celsus]

Cancer is a particularly common disease in modern societies. Moreover, epidemiology considers it typical of contemporary pathology. Nevertheless, the abundant ancient literature-in the De Medicina by Celsus, among others-leads us to believe that numerous benign and malignant tumours were observed if not identified as such. Hence, it is possible that both the change in medical conceptualization and the real increase in the prevalence are responsible for the actual importance of cancer

Deficit in memory consolidation (abnormal forgetting rate) in childhood temporal lobe epilepsy. Pre and postoperative long-term observation.

Deficits in memory consolidation have been reported in adult patients with epilepsy but, not to our knowledge, in children. We report the long-term follow-up (9 y. o. to 18 y. o.) of a boy who suffered from temporal lobe epilepsy and underwent a left temporal lobectomy with amygdalo-hippocampal resection at the age of 10. He showed an abnormal forgetting rate when trying to encode new information and a significant deficit for retrieving remote episodic memories (when compared with his twin brother), both consistent with a consolidation disorder. His memory condition slightly improved after cessation of the epilepsy, nevertheless did not normalize. No standard memory assessment could pinpoint his memory problem, hence an adapted methodology was needed. We discuss the nature of the memory deficit, its possible causes and its clinical implications.

Addressing non-communicable diseases in the Seychelles: towards a comprehensive plan of action.

This article reviews the different steps taken during the past 20 years for the prevention and control of non-communicable diseases (NCDs) in the Seychelles. National surveys revealed high levels of several cardiovascular risk factors and prompted an organized response, starting with the creation of an NCD unit in the Ministry of Health. Information campaigns and nationwide activities raised awareness and rallied increasingly broad and high-level support. Significant policy was developed including comprehensive tobacco legislation and a School Nutrition Policy that bans soft drinks in schools. NCD guidelines were developed and specialized 'NCD nurses' were trained to complement doctors in district health centers. Decreasing smoking prevalence is evidence of success, but the raising so-called diabesity epidemic calls for an integrated multi-sector policy to mould an environment conducive to healthy behaviors. Essential components of these efforts include: effective surveillance mechanisms supplemented by focused research; generating broad interest and consensus; mobilizing leadership and commitment at all levels; involving local and international expertise; building on existing efforts; and seeking integrated, multi-disciplinary and multi-sector approaches.

ECIL-3 classical diagnostic procedures for the diagnosis of invasive fungal diseases in patients with leukaemia.

Invasive fungal diseases (IFDs) continue to cause considerable morbidity and mortality in patients with haematological malignancy. Diagnosis of IFD is difficult, with the sensitivity of the gold standard tests (culture and histopathology) often reported to be low, which may at least in part be due to sub-optimal sampling or subsequent handling in the routine microbiological laboratory. Therefore, a working group of the European Conference in Infections in Leukaemia was convened in 2009 with the task of reviewing the classical diagnostic procedures and providing recommendations for their optimal use. The recommendations were presented and approved at the ECIL-3 conference in September 2009. Although new serological and molecular tests are examined in separate papers, this review focuses on sample types, microscopy and culture procedures, antifungal susceptibility testing and imaging. The performance and limitations of these procedures are discussed and recommendations are provided on when and how to use them and how to interpret the results.

ECIL recommendations for the use of biological markers for the diagnosis of invasive fungal diseases in leukemic patients and hematopoietic SCT recipients.

As culture-based methods for the diagnosis of invasive fungal diseases (IFD) in leukemia and hematopoietic SCT patients have limited performance, non-culture methods are increasingly being used. The third European Conference on Infections in Leukemia (ECIL-3) meeting aimed at establishing evidence-based recommendations for the use of biological tests in adult patients, based on the grading system of the Infectious Diseases Society of America. The following biomarkers were investigated as screening tests: galactomannan (GM) for invasive aspergillosis (IA); β-glucan (BG) for invasive candidiasis (IC) and IA; Cryptococcus Ag for cryptococcosis; mannan (Mn) Ag/anti-mannan (A-Mn) Ab for IC, and PCR for IA. Testing for GM, Cryptococcus Ag and BG are included in the revised EORTC/MSG (European Organization for Research and Treatment of Cancer/Mycoses Study Group) consensus definitions for IFD. Strong evidence supports the use of GM in serum (A II), and Cryptococcus Ag in serum and cerebrospinal fluid (CSF) (A II). Evidence is moderate for BG detection in serum (B II), and the combined Mn/A-Mn testing in serum for hepatosplenic candidiasis (B III) and candidemia (C II). No recommendations were formulated for the use of PCR owing to a lack of standardization and clinical validation. Clinical utility of these markers for the early management of IFD should be further assessed in prospective randomized interventional studies.

The prevalence of rheumatic diseases in the elderly in developed countries and its evolution over time.

OBJECTIVES: This study aims at evaluating the prevalence of rheumatic diseases in the elderly and its evolution over time. METHODS: We present a systematic international literature review of the prevalence of rheumatic diseases in the elderly and its evolution over time. RESULTS: The estimated current prevalence of rheumatic diseases among people aged 65 and more varies between 41% and 53%, and is similar to estimated prevalence rates in studies performed before 1990 (35-55%). The prevalence is high and seems to increase rapidly with age. Furthermore, women suffer more frequently from rheumatic diseases than men. CONCLUSION: The selected studies included a large range of methods, making comparisons difficult. However, estimates of the prevalence of rheumatic diseases in the elderly appear to be homogeneous in different countries and stable since 1980.

Zoonotic occupational diseases in forestry workers: Lyme borreliosis, tularemia and leptospirosis in Europe

INTRODUCTION: Forestry workers and other people who come into close contact with wild animals, such as hunters, natural science researchers, game managers or mushroom/berry pickers, are at risk of contracting bacterial, parasitological or viral zoonotic diseases. Synthetic data on the incidence and prevalence of zoonotic diseases in both animals and humans in European forests do not exist. It is therefore difficult to promote appropriate preventive measures among workers or people who come into direct or indirect contact with forest animals. OBJECTIVES: The objectives of this review are to synthesise existing knowledge on the prevalence of the three predominant bacterial zoonotic diseases in Europe, i.e. Lyme borreliosis, tularemia and leptospirosis, in order to draw up recommendations for occupational or public health. METHODS: 88 papers published between 1995-2013 (33 on Lyme borreliosis, 30 on tularemia and 25 on leptospirosis) were analyzed. CONCLUSIONS: The prevalences of these three zoonotic diseases are not negligible and information targeting the public is needed. Moreover, the results highlight the lack of standardised surveys among different European countries. It was also noted that epidemiological data on leptospirosis are very scarce.

National survey of noncommunicable diseases in Seychelles 2013‐2014 (Seychelles Heart Study IV) : main findings

The 2013 survey addressed the following objectives: Primary objectives : a) Distribution of health behaviors related to NCDs, particularly tobacco use, alcohol drinking, and physical activity ; b) Distribution of the main modifiable risk factors of NCDs, particularly blood pressure, adiposity markers, diabetes and blood lipids ; c) Rates of awareness, treatment and control of hypertension, diabetes and dyslipidemia ; d) Comparison of findings in the survey 2013 with results in previous similar NCD surveys in 1989, 1994, 2004 ; e) Dietary patterns ; f) Knowledge, attitudes and practices related to NCDs and NCD risk factors. Secondary objectives : g) Assessment of indicators of quality of health (e.g. SF‐12) ; h) Assessment of psychological stress and relation with NCD ; i) Assessment of several indicators of frailty (e.g. handgrip strength test, chair strand test, functional limitations) ; j) Assessment of knowledge and level of agreement with current policies on tobacco control ; k) Use of public and private health care services, particularly for NCDs ; l) Exposure to advice on health behaviors given by health professionals at health care level ; m) Burden of chronic diseases not related to the main NCDs (e.g. musculoskeletal, mental health, etc) ; n) Screening of selected cancers ; o) Assessment of the kidney function ; p) Frequency of heart arrhythmias (one‐lead ECG) and heart murmurs (auscultation) ; q) Assessment of bone mineral density (ultrasound of calcaneus) ; r) Exposure of the population to mass media, particularly in relation to health programs, and use by the population of new communication technologies ; s) Assessment of a number of social variables and their association with the variables measured in the survey ; t) More generally, the survey provides broad information (medical, social, environment, etc) that can be useful for tailoring NCD prevention and control programs.

National Survey of Noncommunicable Diseases in Seychelles, 2013-2014 (Seychelles Heart Study IV) : methods and main findings

This report provides information on selected summary results of the National Survey of Noncommunicable Diseases in Seychelles in 2013‐2014 (Seychelles Heart Study IV). The survey is also referred shortly as the "2013 Survey" in this report. Overall crude results were reported in a comprehensive report in November 2014. Further detailed analyses and recommendations on particular topics will be performed separately.

Prise en charge des facteurs de risque des maladies cardiovasculaires: qu'est-ce qui a vraiment changé en 15 ans [Management of cardiovascular diseases in adults from 1999 to 2014: what has really changed?].

Every year, a considerable number of clinical guidelines for the management of cardiovascular risk factors are issued. It may give the idea that this area is constantly evolving with regular changes for ambulatory clinical practice, including family medicine. Sometimes important differences between the various recommendations are observed. This led us to wonder about the evolution of recommendations for the management of diabetes, dyslipidemia and high blood pressure over time. This article presents a historical review of US and European recommendations between 1999 and 2014 to highlight what has actually changed.