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Biomedical subjects

E Carlsson

Publications and source records attributed to E Carlsson.

At least 19 recordsLinked to original sources
PubMed2006

The hormone-sensitive lipase C-60G promoter polymorphism is associated with increased waist circumference in normal-weight subjects.

OBJECTIVE: Hormone-sensitive lipase (HSL) is a key enzyme in the mobilization of fatty acids from triglyceride stores in adipocytes. The aim of the present study was to investigate the role of the HSL gene promoter variant C-60G, a polymorphism which previously has been associated with reduced promoter activity in vitro, in obesity and type 2 diabetes. DESIGN: We genotyped two materials consisting of obese subjects and non-obese controls, one material with offspring-parents trios, where the offspring was abdominally obese and one material with trios, where the offspring had type 2 diabetes or impaired glucose homeostasis. HSL promoter containing the HSL C-60G G-allele was generated and tested against a construct with the C-allele in HeLa cells and primary rat adipocytes. HSL mRNA levels were quantified in subcutaneous and visceral fat from 33 obese subjects. RESULTS: We found that the common C-allele was associated with increased waist circumference and WHR in lean controls, but there was no difference in genotype frequency between obese and non-obese subjects. There was a significant increased transmission of C-alleles to the abdominally obese offspring but no increased transmission of C-alleles was observed to offspring with impaired glucose homeostasis. The G-allele showed reduced transcription in HeLa cells and primary rat adipocytes. HSL mRNA levels were significantly higher in subcutaneous compared to visceral fat from obese subjects. CONCLUSION: The HSL C-60G polymorphism is associated with increased waist circumference in non-obese subjects.

Adult↗
PubMed2006

A polymorphism in the adiponectin gene influences adiponectin expression levels in visceral fat in obese subjects.

OBJECTIVE: Reduced serum adiponectin levels have been found in obesity and type 2 diabetes and variations in the adiponectin gene (APM1) have been associated with type 2 diabetes and features of the metabolic syndrome in different populations. STUDY DESIGN: Here, we investigated the expression of APM1 in adipose tissue and studied the relationship between variation in APM1 expression, the APM1 G276T polymorphism, the common PPARG Pro12Ala polymorphism and clinical features of 36 morbidly obese (body mass index (BMI) 41.5 +/- 4.9 kg/m2) nondiabetic subjects. RESULTS: APM1 mRNA expression in visceral fat was correlated with serum adiponectin levels (r = 0.54, P = 0.012). In visceral, but not in subcutaneous, adipose tissue APM1 mRNA level was 38% higher among carriers of the APM1 G276T T allele (G/T and T/T) than among carriers of the G/G genotype (0.91 +/- 0.06 for G/T and T/T carriers vs 0.66 +/- 0.09 for G/G carriers, P = 0.013). Carriers of the T allele also had significantly higher body fat percent compared to G/G carriers (65 +/- 6 vs 56 +/- 10%, P = 0.011). CONCLUSION: Our results indicate that genetic variation in APM1 influences the expression of the gene in visceral adipose tissue and suggest a potential role for such variation in regulation of body fat accumulation in obese subjects.

Adiponectin↗
PubMed2005

Role of the FOXC2 -512C>T polymorphism in type 2 diabetes: possible association with the dysmetabolic syndrome.

OBJECTIVE: Overexpression of the human transcription factor FOXC2 gene (FOXC2) protects against insulin resistance in mice and a common FOXC2 polymorphism (-512C>T) has been suggested to be associated with insulin resistance in humans. Here, we addressed the potential role for FOXC2 as a candidate gene for type 2 diabetes and associated phenotypes. MATERIALS AND METHODS: A case-control study was performed in 390 type 2 diabetic patients and 307 control subjects. The number of patients was increased to a total of 768 subjects for further study of phenotypic differences relating to the dysmetabolic syndrome relative to genetic variation. The FOXC2 -512C>T polymorphism was genotyped by a restriction fragment length polymorphism PCR assay. RESULTS: FOXC2 -512C>T allele and genotype distribution did not differ between patients with type 2 diabetes and control subjects, but the C/C genotype was associated with increased body mass index (BMI, kg/m2) (Pa=0.03) among type 2 diabetic patients. The FOXC2 -512C>T polymorphism was a significant independent predictor of BMI (P=0.001) in a multiple regression model including age, gender and affection status. We found no significant association with type 2 diabetes-related metabolic parameters but that the C-allele (P=0.01) and C/C and C/T genotypes (P=0.03) were significantly over-represented in type 2 diabetic males with a concomitant diagnosis of dysmetabolic syndrome. CONCLUSION: We conclude that FOXC2 is associated with obesity and metabolic deterioration but does not contribute to an increased risk for type 2 diabetes.

Aged↗
PubMed2005

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

AIM: To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to determine the mutation behind the disease. METHODS: Three families with OA1 were clinically examined. VEFs were measured in two affected males and in one female carrier to characterise the cortical activation pattern after monocular visual stimulation. The neuronal sources of the VEFs were modelled with equivalent current dipoles (ECDs) in a spherical head model. All coding exons of the OA1 gene were screened for mutations by single strand conformation analysis and direct polymerase chain reaction sequencing. RESULTS: Genealogical studies revealed that the three families were all related. The affected males had foveal hypoplasia with reduced visual acuity varying from 20/200 to 20/50, variable nystagmus, iris transillumination, and hypopigmentation of the retinal pigment epithelium. The ECD locations corresponding to the VEFs revealed abnormal crossing of the optic fibres in both affected males, but not in the carrier female. A novel point mutation, leading to a STOP codon, was identified in the fifth exon of the OA1 gene. CONCLUSIONS: The data indicate that the novel mutation 640C>T in the OA1 gene is the primary cause of the eye disease in the family studied. VEFs with ECD analysis was successfully used to demonstrate abnormal crossing of the optic fibres.

Adult↗
PubMed2004

Body composition in patients with short bowel syndrome: an assessment by bioelectric impedance spectroscopy (BIS) and dual-energy absorptiometry (DXA).

OBJECTIVE: To describe body composition in patients with short bowel syndrome (SBS) by using bioelectric impedance spectroscopy (BIS), dual-energy X-ray absorptiometry (DXA) measurements and anthropometrical-derived estimates. SUBJECTS: In all, 19 patients were included, mean age 54 y, range 36-77 (F/M=11/8). Mean BMI was 21.5 kg/m(2). Eight patients were on home parenteral nutrition (HPN). METHODS: Total body water (TBW), intracellular water and extracellular water were assessed by BIS. TBW were derived from DXA. Fat-free mass (FFM) was assessed by BIS and DXA. TBW and FFM were predicted according to an empirical formula. Differences were analysed using the Bland-Altman method. RESULTS: The mean difference between TBW (DXA) and TBW (BIS) was -1.1 l in women and -1.8 l in men. For FFM, the mean difference between FFM (DXA) and FFM (BIS) was -1.7 kg in women and -2.5 kg in men. The mean difference between TBW (DXA) and TBW (BIS) for all patients was -1.2 l and limits of agreement were (-7.80-5.40). Hydration of FFM assessed by BIS gave a mean of 0.75 (0.08). CONCLUSION: The limits of agreement (Bland-Altman) between DXA and BIS were wide, indicating that methods are not interchangeable, which limits its clinical utility. Most of our patients with SBS were maintained in a stable clinical condition within normal limits of body weight and BMI. FFM and TBW did not appear to be altered in ileostomates or those on HPN.

Absorptiometry, Photon↗
PubMed2003

Review article: Esomeprazole--enhanced bio-availability, specificity for the proton pump and inhibition of acid secretion.

Esomeprazole, the S-isomer of omeprazole, is the first proton pump inhibitor available for clinical use as a single isomer. It demonstrates pharmacological and clinical benefits beyond those seen with the racemic omeprazole. Esomeprazole has higher and more consistent bio-availability than omeprazole, which results in a greater area under the plasma concentration-time curve. It is the area under the plasma concentration-time curve of omeprazole and esomeprazole that determines how much of each reaches the parietal cell, and thus the control of gastric acid secretion that is achieved. Esomeprazole, like other proton pump inhibitors, has a high specificity for the acidic environment of the parietal cell, where it is accumulated, activated and covalently inhibits the proton pump. Proton pumps elsewhere in the body do not achieve the level of acidity needed for accumulation and activation. Esomeprazole, 40 mg once daily, provides more effective control of gastric acid secretion than omeprazole, 20 or 40 mg once daily, and all other proton pump inhibitors given at their standard doses. This translates into greater clinical effect compared with omeprazole, 20 mg once daily, and lansoprazole, 30 mg once daily, in the management of reflux disease. Esomeprazole therapy is well tolerated, with a low adverse events profile, similar to that seen with omeprazole.

Anti-Ulcer Agents↗
PubMed2003

Quality of life and concerns in patients with short bowel syndrome.

BACKGROUND & AIMS: the life situation in patients with short bowel syndrome was described, with focus on aspects of quality of life, worries, concerns and coping. METHODS: Twenty-eight patients (19F/9 M) participated. Mean age was 54. Eight were on home parenteral nutrition (HPN). Quality of life was recorded using a visual analogue scale. Health-related quality of life (HRQOL) was assessed using Short Form 36 (SF -36) and compared with matched controls. Concerns were assessed using Rating Form of Inflammatory bowel disease patient concerns (RFIPC). Coping strategies were investigated using Jalowiec coping scale (JCS 40). RESULTS: Greatest concerns were fear of being a burden, having surgery and loss of energy. HRQOL was significantly reduced compared to controls. Patients' receiving HPN rated quality of life lower than those without HPN. The presence of a stoma appeared not to influence quality of life negatively but stoma patients expressed more concern. Confrontational coping style was most frequently used. CONCLUSION: HRQOL was low both in the HPN group and the non-HPN group. Having a stoma did not affect quality of life negatively. Fear of being a burden was the most frequently expressed concern, in the whole group as well as in subgroups. This information should be integrated into the care of these patients.

Adaptation, Psychological↗
PubMed2003

Pro-opiomelanocortin gene is associated with serum leptin levels in lean but not in obese individuals.

OBJECTIVE: Mutations in the pro-opiomelanocortin and melanocortin 4 receptor genes (POMC and MC4R) cause monogenic obesity, and the POMC locus (2p21) has been linked to leptin levels and body mass index (BMI). We searched for monogenic obesity due to mutations in POMC and MC4R among morbidly obese Swedes and studied the association of POMC variants with BMI and serum leptin levels. DESIGN: MC4R and POMC were screened for mutations in 102 obese Swedish subjects (40+/-11 y, 41.3+/-5.0 kg/m(2)) using the single-strand conformation polymorphism technique. The detected polymorphisms were genotyped in 118 lean control subjects (56+/-11 y, 22.6+/-1.3 kg/m(2)) and studied for association with BMI and serum leptin levels. RESULTS: No cases of monogenic obesity due to mutations in POMC or MC4R were identified and none of the four common POMC polymorphisms (RsaI, ins56, Glu188Gly and C8246T) were associated with obesity. Lean carriers of the C8246T CC-genotype had higher serum leptin levels compared to CT or TT carriers (9.7+/-6.6 vs 6.7+/-4.4 microg/l, P=0.003 for leptin levels adjusted for age, sex and BMI in regression analysis), especially lean females (P=0.004) and lean female carriers with the C8246T(CC)/RsaI(--or +-) genotype combinations (P<0.0005). Neither the C8246T CC-genotype nor the C8246T(CC)/RsaI(--or +-) were associated with serum leptin levels in obese subjects. CONCLUSIONS: Monogenic forms of obesity due to mutations in POMC and MC4R are rare in Swedish obese patients. Polymorphisms in POMC are associated with variation in serum leptin levels within the normal range in healthy lean but not in obese individuals.

Adult↗
PubMed2003

What concerns subjects with inflammatory bowel disease and an ileostomy?

BACKGROUND: The greatest concern of patients with inflammatory bowel disease (IBD) is of having an ileostomy. The aim of this study was to describe worries and concerns in subjects with IBD and an ileostomy, and aspects of quality of life and coping strategies. METHODS: 21 subjects with an ileostomy were included, mean age 51, range 36-65 (F/M = 12/9), Crohn disease (CD) n = 14, ulcerative colitis (UC) n = 6 and indeterminate colitis (IDC) n = 1. Worries and concerns were assessed using the rating form of IBD patient concerns (RFIPC). Health-related quality of life (HRQOL) was assessed using Short Form 36 (SF-36) and compared with a matched group for age and gender from the general population. Subjects' definition of quality of life, as well as perceived quality of life on a visual analogue scale, was evaluated. Coping strategies were investigated using the Jalowiec coping scale (JCS 40). RESULTS: Greatest concerns were related to intimacy, access to quality medical care, energy level, loss of sexual drive, producing unpleasant odours, being a burden, ability to perform sexually, attractiveness and feelings about the body. Vitality was significantly reduced compared to controls. Subjects' definition of good quality of life mainly concerned social dimensions of life and health. Low values on perceived quality of life indicated greater concerns. Confrontational coping style was most frequently used. CONCLUSION: The greatest concern for subjects with an ileostomy was intimacy. Vitality was reduced compared to controls. Integrating items of concern into counselling may result in greater coping ability and improved quality of life.

Activities of Daily Living↗
PubMed2003

Prevention of severe hypoglycaemia in type I diabetes: a randomised controlled population study.

AIMS: To investigate use of targeted self study material in type I diabetes patient education regarding dissemination, perceived patient benefit, and prevention of severe hypoglycaemia. METHODS: In a randomised 1:1:1 controlled study, 332 patients with type I diabetes (aged 2.6-18.9 years) were studied; 313 completed clinical follow up, 261 completed endpoint questionnaire. The intervention group received videotapes and a brochure designed to review skills for self control and treatment, aimed at preventing severe hypoglycaemia. Two control groups received a videotape and brochure with general diabetes information, or traditional treatment only, respectively. RESULTS: Yearly incidence of severe hypoglycaemia decreased from 42% to 27% in the intervention group, but not in controls. HbA1c remained unchanged. Levels of use ranged from 1 to 20 times (median 2); 40-49% had shown the materials to friends, relatives, school staff, sports coaches, etc (there was little difference between intervention and control groups). Higher benefit and learning levels resulted from the intervention material, especially in patients with severe hypoglycaemia. CONCLUSIONS: Mass distributed pedagogical devices such as high quality video programmes and brochures may contribute to the prevention of severe hypoglycaemia. Such self study materials can reach high dissemination levels and constitute a cost effective complement to regular visits to a diabetes team and to other types of education. The findings may have implications for other topics, other ages, and other diagnosis groups.

Adolescent↗
PubMed2002

Body composition in patients with an ileostomy and inflammatory bowel disease: validation of bio-electric impedance spectroscopy (BIS).

OBJECTIVE: To validate bio-electric impedance spectroscopy (BIS) by comparison with other methods for determination of body water compartments in stable subjects with an ileostomy and no or minor small bowel resection for inflammatory bowel disease (IBD). SUBJECTS: Twenty-one subjects were included, age range 36-65 y (female/male=12/9), Crohn's disease (CD), n=14, ulcerative colitis (UC), n=6 and indeterminate colitis (IDC), n=1. METHODS: Fluid compartments were assessed by the use of three independent methods: BIS, dual-energy X-ray absorptiometry (DXA) and dilution techniques (DIL); tritiated water (total body water, TBW); and bromide (extracellular water, ECW), respectively. Intra-cellular water (ICW) was calculated as TBW-ECW. For comparison TBW was also predicted according to an empirical formula. Differences were analysed using Bland-Altman plots. RESULTS: The mean TBW values obtained from the impedance measurement differed in the order of -2.21 (DIL) to 1.41 (DXA) in women and -2.01 (DIL) to 2.61 (DXA) in men, from the measured and derived values of total body water. Prediction of TBW gave values that were close to BIS, with a mean difference of -0.31 in male subjects and +0.51 in female subjects. Assessment of ECW revealed that the mean difference between dilution and impedance was less in women than in men (P<0.01). CONCLUSION: The differences between all methods to assess fluid compartments are pronounced. To further investigate the use of the method in clinical practice for dynamic monitoring of rehydration in ileostomates with acute diarrhoea, repeated measurements together with comparison with weight fluid-balance charts are suggested. SPONSORSHIP: The study was supported by grants from the Swedish Medical Research Council (17X-03117), Göteborgs Läkarsällskap and IB and A Lundbergs forskningsstiftelse.

Absorptiometry, Photon↗
PubMed2001

Geochemical investigations of sulfide-bearing tailings at Kristineberg, northern Sweden, a few years after remediation.

In the Kristineberg mining area in northern Sweden, massive, pyrite-rich Zn Cu ores are intercalated in ca. 1.9 Ga volcano-sedimentary rocks. Investigations of a tailings impoundment remediated by means of both till coverage and raising the groundwater table have been undertaken. The aim of the study was to characterise the tailings with respect to mineralogy, the chemical composition of both the tailings and the pore water, and to try to identify the significant reactions that may have occurred before and after remediation. It was found that the oxidation front had reached down to depths of between approximately 0.1 and 1.15 m before remediation. The oxidation of sulfides has produced high concentrations of some metals in the pore water; up to 26, 16, 4.1, 2.7 and 82 mg/l have been measured for Al, Mn, Fe and Zn, respectively. Concentrations of metals such as Cd, Co, Cu, Ni and Pb are lower, with average concentrations of 18.4, 83.8, 45, 79.6 and 451 microg/l, respectively. Higher concentrations of major elements such as Ca, Fe, Mn, Mg and S have been measured at depth in pore water than at shallower levels. This is probably caused by flush out of elements after remediation and vertical transport from the upper parts before remediation. The pH is relatively high, approximately 5.5 at most depths in the tailings, except in and around the former oxidation zone where it is lower, and where the highest dissolved concentrations of elements such as As, Cd, Co, Cu, Pb and Zn occur. This is probably due to the release of metals secondarily retained below the oxidation front prior to the remediation. Since the groundwater table is raised, the groundwater reaches the retained metals, which leads to desorption of metals and dissolution of secondary minerals.

Environmental Monitoring↗
PubMed2001

Living with an ostomy and short bowel syndrome: practical aspects and impact on daily life.

PURPOSE: Practical aspects and impact on daily life of short bowel syndrome (SBS) and an ostomy were explored in people with SBS. Interest was focused on nutrition and excretion, ostomy problems, associated medical and surgical problems, socioeconomic situation, and social and leisure activities. SUBJECTS AND SETTING: Six subjects (range, 38-68 years) with Crohn's disease were included from the University Short Bowel Clinic at Sahlgrenska University Hospital, Gothenburg, Sweden. Average disease duration was 25 years, and mean small intestinal length was 107 cm; 4 subjects were receiving parenteral nutrition at home. METHODS: Subjects were interviewed in their homes using a semistructured interview divided into the areas of focus. Data were transcribed by shorthand and were rewritten into the computer the same day. A questionnaire on nutrition and excretion was answered by the subjects in writing and mailed to the interviewer. RESULTS: The most significant observation was the limited ability to act spontaneously, because all daily activities involved considerable planning. Three subjects said they had never accepted the ostomy; the others would not return to their pre-stoma lifestyle. The 2 subjects with a colostomy described special emptying patterns that caused limitations in social life that had not been reported previously. Fistulas were reported as having been the most trying part of the disease. Three subjects worked part time, which was of utmost importance for quality of life. Fatigue influenced social and leisure activities. CONCLUSION: People with SBS are bothered by a number of demanding problems in various aspects of life. Therefore, a team approach toward care is critical to allow for coordination of action toward the various needs. It also seems unlikely that standard instruments of quality of life can capture the complicated situations with which these subjects live. It appears that coping mechanisms also need to be considered.

Activities of Daily Living↗
PubMed2001

Early dental caries risk assessment and prevention in pre-school children: evaluation of a new strategy for dental care in a field study.

The aim of the present field study was to evaluate a new strategy for the dental care of pre-school children which includes an early caries risk assessment and early preventive care. One hundred and sixty-seven children were studied from 1 to 6 years of age (intervention group). A group of 125 children from the same clinic (historical control) was used as a comparison group. On the basis of the clinical examinations of the children and the interviews with the parents when the children were 3 years of age, the children in the intervention group were divided into four different risk groups: no (n = 95), low (n = 33), moderate (n = 30), and high caries risk (n = 9). Only 8 of the 95 children who had been placed in the no caries risk group at 3 years of age developed manifest carious lesions in their primary cuspids and molars by 6 years of age. At 6 years of age 81% in the intervention group were free of manifest carious lesions, compared with 55% in the comparison group (P < 0.001). Furthermore, the mean numbers of defs were 0.6 for children in the intervention group and 2.7 in the comparison group. Thus, this field study indicates that early primary prevention (before the onset of caries attack) and a structured and systematic approach to dental care for pre-school children result in good oral health for the children and may be economically profitable for a society with organized public dental service for pre-school children.

Chi-Square Distribution↗
PubMed1999

The V-antigen of Yersinia is surface exposed before target cell contact and involved in virulence protein translocation.

Type III-mediated translocation of Yop effectors is an essential virulence mechanism of pathogenic Yersinia. LcrV is the only protein secreted by the type III secretion system that induces protective immunity. LcrV also plays a significant role in the regulation of Yop expression and secretion. The role of LcrV in the virulence process has, however, remained elusive on account of its pleiotropic effects. Here, we show that anti-LcrV antibodies can block the delivery of Yop effectors into the target cell cytosol. This argues strongly for a critical role of LcrV in the Yop translocation process. Additional evidence supporting this role was obtained by genetic analysis. LcrV was found to be present on the bacterial surface before the establishment of bacteria target cell contact. These findings suggest that LcrV serves an important role in the initiation of the translocation process and provides one possible explanation for the mechanism of LcrV-induced protective immunity.

Antibodies, Bacterial↗
PubMed1999

Cardiovascular changes associated with dehydration and drinking in unrestrained, lactating goats.

The aim of this study was to investigate if the alertness connected with seeing water increased arterial blood pressure and heart rate to the same extent as the act of drinking, and if ingestion of warm water caused a different effect compared with ingestion of cool water on these cardiovascular variables. Seven goats of the Swedish domestic breed (Capra hircus) were used in a cross-over design. The animals were dehydrated for 24 h. They were allowed to watch water being prepared for 11-16 min, after which they were given access to warm (35 degrees C) or cool (15 degrees C) water. The goats drank 6.86 +/- 0.36 l of the warm water and 4.54 +/- 0.35 l of the cool water (P < 0.05) within the first hour. The arterial blood pressure, heart rate and activity of the animals were registered by an implanted telemetric device. Dehydration did not affect the cardiovascular variables, except before feeding in the morning, when the heart rate accelerated faster in dehydrated goats. Heart rate increased abruptly when dehydrated goats saw water being prepared, remained at the increased level during drinking and then slowly declined. It increased again during the afternoon feeding, to a level similar to that on control days, but between 18.00 and 06.00 h the heart rate was higher than during control nights. Blood pressure did not change when the goats saw water, but increased when they drank. On the morning following rehydration, the rise in heart rate in response to feeding was delayed compared with that during control and dehydration periods. It is concluded that seeing water caused arousal in the goats, resulting in an accelerated heart rate. The additional rise in blood pressure during the act of drinking appears to be a combination of excitement and sensory inputs from the pharyngeal region, causing a temporary activation of the sympathetic nervous system.

Animals↗