Recent advances in the genetics of phaeochromocytoma and functional paraganglioma

1. Recent clinical and fundamental research studies have revolutionized our understanding of the genetics of phaeochromocytoma (PH) and functional paraganglioma (FPGL). It was widely thought that only 10% of PH patients had familial disease and that the malignant phenotype of PH could not be diagnosed before occurrence of the first metastasis. 2. Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients. 3. Fundamental research studies have shown that SDH genes are tumour suppressor genes and that succinate dehydrogenase inactivation induces abnormal stimulation of the hypoxia-angiogenesis pathway. 4. Finally various fundamental research studies, conducted through the Cortico and Medullo-surrenale: les Tumeurs Endocrines (COMETE) network in France and by other groups worldwide, have produced new recommendations for genetic counselling and testing and for the management of PH patients. They have also improved our understanding of the molecular mechanisms involved in PH tumorigenesis.     

Population based standards for pulmonary function in non-smoking adults in Singapore

Abstract Ethnic differences in lung function are well recognized, hence the use of normative data should therefore be based on reference equations that are derived specifically for different ethnic groups. We have collected data ( n =406) for population-based reference values of lung function from randomly selected samples of healthy non-smoking adults of both gender (aged 20–79 years) for each of the three major ethnic groups (Chinese, Malay and Indians) in Singapore. Lung function forced expiratory volume in 1 second (FEV₁), forced vital capacity (FVC), FEV₁/FVC, diffusion capacity (transfer factor) for carbon monoxide (DLCO), total lung capacity (TLC), residual volume (RV), RV/TLC and functional residual capacity (FRC) was measured using standardization procedures and acceptability criteria recommended by the American Thoracic Society. Lung function values were predicted from age, height, weight, body mass index (BMI) and transformed variables of these anthropometric measures, using multiple regression techniques. Ethnic differences were demonstrated, with Chinese having the largest lung volumes and flow rates, and Indians the smallest. These prediction equations provide improved and additional (TLC, RV, RV/TLC, FRC) population-based reference values for assessment of pulmonary health and disease in Singapore     

Role of Social,Cultural and Economic Capitals in Perceived Quality of Life Among Old Age People in Kerala,India

Objective:

To find out the relationship of collective social, economic, and cultural properties of a population on the perceived quality of life (QOL) among old age people.

Materials and Methods:

In a community-based cross-sectional study, we analyzed information on a representative sample of 900 old age (aged > 60 years) from 28 villages in Kollam district of Kerala. WHO-Quality of Life - BREF questionnaire was used. Ethical clearance from Institutional Ethics Committee was obtained. The mean scores for perceived QOL for domains such as physical health, psychological health, social relations, and control of environments were calculated. The three scales (social capital, cultural capital, and economic capital) were standardized using z-score transformation to make them comparable. Using multiple linear regression, we calculated the independent effect of economic capital, social capital, and cultural capital on perceived QOL among old people adjusted for age, sex, and the presence of chronic disease.

Results:

For overall QOL, only cultural capital contributed significantly. An increase of one unit z-score cultural capital led to three units increase in overall QOL score (β = 3.362; 95% CI: 2.645-4.078). Social capital and cultural capital contributed significantly to the physical health domain of QOL. With one z-score increase in social capital and cultural capital, QOL score of physical health domain increased by 0.2 units (β = 0. 227; 95% CI: 0.020-0.434), and 0.5 (β = 0. 596; 95% CI: 0.384-0.808) units, respectively. Psychological health domain and environmental domain were affected by all three capitals significantly. But, the social relations domain was significantly affected only by cultural capital (β = 0. 576; 95% CI: 0.373-0.779).

Conclusion:

Hence, the policies for old people should envision retaining our cultural and social norms along with the economic interventions for a better palliative care.     

Angiotensin-converting-enzyme inhibitors in the management of cardiac failure: are we ignoring the evidence?

The benefits of angiotensin-converting enzyme (ACE) inhibition in the management of cardiac failure have been extensively documented. However, little is known about its impact upon the investigation and management of this condition. We assessed how patients diagnosed as having cardiac failure were investigated, which patients were treated with ACE inhibitors and with what dosages. We reviewed the case notes of all 343 patients discharged from Aberdeen Royal Infirmary 1 July-31 December 1992 with a diagnosis of cardiac failure. In addition, a questionnaire was sent to the general practitioners of the 166 patients still alive in October 1994. Only 40% of patients were discharged from hospital on ACE inhibitors. In 58.8%, the diagnosis of cardiac failure was based purely on clinical or radiological grounds. At discharge, 76.1% of patients were on lower doses of ACE inhibitors than those used in the major survival studies; with 68.9% receiving similar doses two years later. The majority of patients with heart failure are under- investigated and under-treated.