Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.

Cardiovascular and respiratory changes and convalescence in laparoscopic colonic surgery: comparison between carbon dioxide pneumoperitoneum and gasless laparoscopy.

HYPOTHESIS: Gasless laparoscopy produces smaller cardiopulmonary and systemic changes than carbon dioxide (CO2) laparoscopy during colonic surgery. DESIGN: Prospective randomized trial. SETTING: Department of Surgery in a university hospital. PATIENTS: Twenty-two patients scheduled for laparoscopic colonic resection; 5 patients were excluded because of conversion to open surgery (N = 17). INTERVENTIONS: Patients were randomized to either gasless (n = 9) or conventional CO2 (n = 8) surgery. MAIN OUTCOME MEASURES: Intraoperative assessment of hemodynamic factors and pulmonary function, and postoperative assessment of pain, pulmonary function, convalescence, and various injury factors were done several times until 30 days after surgery. Surgical complications were noted. RESULTS: Descending aorta blood flow after 30 minutes (P=.03) and heart rate after 150 minutes were higher in the CO2 group (P=.009). Central venous pressure, PaCO2 inspiration pressure, and end tidal CO2 level were significantly higher in the CO2 group (P = .05, .03, .04, and .01, respectively). Patients in the CO2 group had less pain during mobilization and coughing (P = .008 and .006, respectively), and were significantly more fatigued (P = .04). No other important differences were observed in intraoperative hemodynamic factors, postoperative convalescence, immunocompetence, or pulmonary function. CONCLUSION: No clinically important differences in cardiovascular and systemic response were observed between patients undergoing CO2 or gasless laparoscopy for colonic disease.

Changes in plasma potassium concentration during carbon dioxide pneumoperitoneum.

Hyperkalaemia with ECG changes had been noted during prolonged carbon dioxide pneumoperitoneum in pigs. We have compared plasma potassium concentrations during surgery in 11 patients allocated randomly to undergo either laparoscopic or open appendectomy and in another 17 patients allocated randomly to either carbon dioxide pneumoperitoneum or abdominal wall lifting for laparoscopic colectomy. Despite an increasing metabolic acidosis, prolonged carbon dioxide pneumoperitoneum resulted in only a slight increase in plasma potassium concentrations, which was both statistically and clinically insignificant. Thus hyperkalaemia is unlikely to develop in patients with normal renal function undergoing carbon dioxide pneumoperitoneum for laparoscopic surgery.

Patients' desire for information about anaesthesia: Danish attitudes.

BACKGROUND: Patients' desire for information about anaesthesia has been examined in a number of Commonwealth countries but not in Scandinavia. A questionnaire was distributed to form a basis for giving Danish patients more appropriate preoperative information. METHODS: 201 preoperative patients in Denmark were asked to complete a questionnaire. The patients were divided into subgroups according to: age, gender, residential origin, ASA group, educational level, type of anaesthesia planned and number of previous anaesthetics. RESULTS: Patients from a city area required significantly more information than patients from a rural/urban area about premedication drugs, drips/catheters, pain/pain relief and complications. Men more than women preferred to know about dangerous complications. Information about pain/pain relief, duration of anaesthesia, and influence of anaesthesia on daily activities such as eating, drinking, mobilisation was given the highest priority, while unpleasant information such as about complications and needles was given the lowest priority. Meeting the anaesthetist and information about alternative methods of anaesthesia and premedication drugs were given only moderate priority. Ranking information in Denmark was significantly correlated with Scotland, Canada and Australia, despite profound differences in priority. More often than Danish patients, Australian patients felt they had right to know, and especially about complications. CONCLUSION: Patients from a city area required more information than patients from a rural/urban area. Information about the influence on daily activities was preferred to unpleasant information. Ranking information in Denmark was correlated with a number of Commonwealth countries.

Diet, an independent determinant for plasma total homocysteine. A cross sectional study of Norwegian workers on platforms in the North Sea.

OBJECTIVE: To examine whether diet is an independent determinant for total homocysteine (tHcy) levels. DESIGN: Data on background variables was collected by questionnaire interviews, food intake by one 24 h recall and tHcy levels in a blood sample in 310 healthy men (mean age, 38 y). SETTING: Two oil producing platforms in the Norwegian sector in the north sea. RESULTS: The arithmetic mean (s.d.) and median tHcy levels were 10.4 (2.9) mumol/L and 9.9 mumol/L, respectively. In a covariance analysis, mean adjusted plasma tHcy decreased by 7-21% from no intake to highest category of intake of bread, vegetables, and skimmed milk, and increased by 8-9% from less than 30% to above 35% energy from fat, and from no intake to one liter or more for coffee. Smokers had a lower intake of cereals, bread vegetables and fruits, but ate more fat and meat. Thus, smoking may have an indirect effect on the tHcy level through its effect on diet. In a multiple regression model, bread and vegetables were negatively associated with tHcy, while fat was positively associated. CONCLUSIONS: The results suggest that changes in diet may be an important means to lower the tHcy level in the overall population, and that dietary advice should be considered in subjects diagnosed with elevated tHcy levels.

Nutrition promotion and dietary change at off-shore oil installations in the Norwegian sector of the North Sea.

OBJECTIVE: This paper examines whether diet had changed at platforms in the Norwegian sector of the North Sea between 1985 and 1993 and if this was caused by nutrition promotive activities, including the use of a health handbook (HHB). DESIGN: The report is based on two cross-sectional surveys, one in 1985 and one in 1993, with special reference to cardiovascular risk. Standardised questionnaires, structured and open interviews were used, incorporating information on food intake and availability, and socioeconomic variables. SUBJECTS AND SETTING: The study population was 194 healthy men in 1985 and 336 in 1993. The mean age was 35 years in 1985 (range 18-57) and 38 (range 21-59) in 1993. RESULTS: From 1985 to 1993 the mean intake of foods and nutrients changed in the same direction as recommended by the Norwegian National Nutrition Council and according to the HHB. The mean energy percentage from fat was 12% lower in 1993 than in 1985. Overall 56% of the workers said they had changed diet since 1985. Those who had changed, consumed more cereals, fruits, more low fat milk, and more fruit juice, and had lower energy percentage from fat, lower intake of dietary cholesterol, more intake of vitamin C and dietary fibre in 1993 than those who had not changed. About 70% of those who had received the HHB had changed their diet, against 50% of those who had not. The use of the HHB was inversely related to intake of energy, energy from fat, and dietary cholesterol, and positively related to vitamin C and dietary fibre. CONCLUSION: It is concluded that the dietary changes are likely to be caused by the interventions, including the HHB.

Associations between serum ferritin and cardiovascular risk factors in healthy young men. A cross sectional study.

OBJECTIVE: This study examines the association between serum ferritin levels and cardiovascular risk factors. DESIGN: The data were obtained from a cross-sectional survey designed to assess the nutrition situation, with special reference to cardiovascular risk factors. SUBJECTS AND SETTING: The study population was 337 healthy men, median age 38 years (range 21-59), working at oil platforms in the North Sea. RESULTS: The associations between serum ferritin, risk factor levels and anthropometric measurements were analysed by age-adjusted partial correlations, step-wise multiple regression, and one-way ANOVA analysis. Body mass index and waist-to-thigh ratio were the strongest predictors for serum ferritin when controlling for age (P < 0.001). In multiple regression analysis, when anthropometric measurements were excluded, fibrinogen, high density lipoprotein (HDL)-cholesterol and diastolic blood pressure were significant predictors for serum ferritin levels when controlling for age (P < 0.001). There was a significant difference in triglyceride concentration between those with low stores of iron and those with high stores (P = 0.006). There were consistently higher levels of total cholesterol, triglycerides, fibrinogen, diastolic and systolic blood pressure, except for HDL where it was reversed, in the highest quartile of serum ferritin levels compared to the lowest. For all the variables the differences between the quartiles of serum ferritin were significant. CONCLUSION: These findings support the hypothesis that the associations between cardiovascular arteriosclerotic disease and serum ferritin are at least partially caused by confounding. SPONSORSHIP: The project was supported by the Norwegian State Oil Company (STATOIL), Amoco Norway Oil Company and Ross Offshore AS.

Use of anthropometric measurements in assessing risk for coronary heart disease: a useful tool in worksite health screening?

The study examined the association between the anthropometric measurements body mass index (BMI), waist/hip ratio (WHR), and waist/thigh ratio (WTR) and cardiovascular risk factors, and assessed whether a combination of BMI and WHR could be used in routine screening of risk for cardiovascular arteriosclerotic disease at worksites. The data were obtained from a cross-sectional survey designed to assess the nutritional situation, with special reference to cardiovascular risk factors. The study population comprised 372 healthy men working on platforms in the North Sea. Serum cholesterol, triglyceride, fibrinogen, and blood pressure were positively related to the anthropometric variables, while high-density lipoprotein (HDL) was inversely related with them. The relations remained after adjusting for possible confounders, such as age, smoking, physical activity, and an indicator of dietary fat intake. In stepwise multiple linear regression models, BMI, WHR, and WTR were positively related to serum cholesterol, triglycerides, fibrinogen, diastolic blood pressure, and systolic blood pressure, and inversely related to HDL. When controlling for the anthropometric variables WHR and WTR, BMI was not independently related to fibrinogen and risk score. WHR and WTR were not independently related to systolic and diastolic blood pressure, and WTR was in addition not related to triglycerides when controlling for BMI. Overall, the anthropometric variables BMI and WHR were considered the best predictors for CAD risk when taking several risk factors into consideration. A joint variable between BMI and WHR, called "body score", constituted the four categories lean, lean android, overweight gynoid, and overweight ovoid. This body score was positively associated with levels of serum lipids, fibrinogen, and blood pressure, and inversely associated with HDL. In stepwise multiple linear regression models, controlling for possible confounding variables, body score was positively related to CAD risk. Dividing the risk score into tertiles, about 51% of the lean were in the first, while 46% of the overweight ovoid were in the third tertile. Those classified as lean android or overweight gynoid had about the same distribution, namely between 31% and 39% in each tertile if the two categories were combined. These data support the hypothesis that BMI, WHR, and WTR are independent predictors for risk factors for CAD among oil workers, and that combinations of BMI and WHR are strong enough predictors to be useful in routine screening for CAD risk at worksites. Based on these findings, supported by data from the literature, a matrix aimed at screening for follow-up at worksites is proposed.