The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis.

Mutations in the COL13A1 gene result in congenital myasthenic syndrome type 19 (CMS19), a disease of neuromuscular synapses and including various skeletal manifestations, particularly facial dysmorphisms. The phenotypic consequences in Col13a1 null mice (Col13a1-/-) recapitulate the muscle findings of the CMS19 patients. Collagen XIII (ColXIII) is exists as two forms, a transmembrane protein and a soluble molecule. While the Col13a1-/- mice have poorly formed neuromuscular junctions, the prevention of shedding of the ColXIII ectodomain in the Col13a1tm/tm mice results in acetylcholine receptor clusters of increased size and complexity. In view of the bone abnormalities in CMS19, we here studied the tubular and calvarial bone morphology of the Col13a1-/- mice. We discovered several craniofacial malformations, albeit less pronounced ones than in the human disease, and a reduction of cortical bone mass in aged mice. In the Col13a1tm/tm mice, where ColXIII is synthesized but the ectodomain shedding is prevented due to a mutation in a protease recognition sequence, the cortical bone mass decreased as well with age and the cephalometric analyses revealed significant craniofacial abnormalities but no clear phenotypical pattern. To conclude, our data indicates an intrinsic role for ColXIII, particularly the soluble form, in the upkeep of bone with aging and suggests the possibility of previously undiscovered bone pathologies in patients with CMS19.

The effect of a brief computer-assisted intervention on oral health-related behaviours among adolescents.

AIM: The aim of this study was to see if a brief, computer-assisted intervention tool could be pleasant to use for adolescents. Another aim was to evaluate if the computer programme could affect adolescents' oral health-related behaviours. MATERIALS AND METHODS: Study design: For oral health promotion on schoolchildren, a computer-assisted intervention with personal feedback was performed. The effectiveness of the programme on participants' oral health behaviours as well as the feasibility of the programme were evaluated by responses of the participants. The study was conducted on 13-15 year-old schoolchildren (n=112). The computer programme included 19 questions about oral health-related behaviours and it provided personal feedback and tips towards better oral health. Additionally, the participants gave feedback about the programme. After four weeks, the intervention was repeated, the same questions were asked again, and the effect of the intervention on oral health behaviours was evaluated. RESULTS: More than half of the children considered the computer programme useful, girls (56.9%) more often than boys (44.9%) (p = 0.057). Almost everyone reported having learnt new information through the programme. Most of the new information concerned oral hygiene and the effects of different beverages on dental health (over 40% on both issues). Both genders reported having changed their oral health behaviours towards better habits. Girls generally improved their meal quality, while boys cut down on snacking and used more xylitol products. The computer-assisted intervention gave positive results and the programme seemed to be easy and pleasant to use for both adolescents and oral health professionals. STATISTICS: The results concerning the computer programme were described as frequencies, distributions and graphically. Chi-square test or Fisher's exact test was used when compared distributions between different questions and gender as well as questions and groups. The participants were categorised into three groups according to their sum scores (calculated from responses to the questions on oral health-related behaviours). The differences between the sum scores at baseline and after the intervention were analysed with the paired samples t-test. CONCLUSIONS: Information technology seems to have a remarkable potential in motivating patients towards better oral health behaviours.

Handedness in the helsinki ultrasound trial.

OBJECTIVES: To determine whether exposure to prenatal ultrasound increases non-right-handedness in boys. METHODS: The association between exposure to prenatal ultrasound and handedness was tested, using logistic regression analysis, in the Helsinki Ultrasound Trial data. We applied an intention-to-treat approach in this analysis of a subset of 4150 subjects whose parents answered a follow-up questionnaire on handedness when the children were aged 13-15 years. RESULTS: The odds ratio for non-right-handedness of children who had been exposed to prenatal ultrasound was 1.16 (0.98-1.37) for all subjects, 1.12 (0.89-1.41) for boys and 1.24 (0.97-1.58) for girls. CONCLUSIONS: We could not confirm the hypothesis that prenatal ultrasound exposure and handedness are associated. Our findings were independent of the particular definition of handedness used, whether it was considered according to the writing hand alone or defined using a laterality quotient.

Differences in the diagnosis of myocardial infarction by troponin T compared with clinical and epidemiologic criteria.

We investigated the difference in the number of myocardial infarction (MI) diagnoses based on troponin T compared with clinical and epidemiologic (modified FINnish Multinational MONItoring of trends and determinants in CArdiovascular diseases) diagnoses, and the prognosis of patients with discordant diagnoses. Five hundred fifty-nine consecutive patients (315 men and 244 women, median age 69 years) were admitted to the hospital with a suspected acute coronary syndrome. Median follow-up time was 17 months. Of the 559 patients, 127 had a clinical and 137 an epidemiologic diagnosis of MI. When a diagnosis of MI was primarily based on troponin T (>0.10 microg/L), the number of MIs was 169, which increased by 33% compared with the number of MIs by clinical diagnosis, and by 23% compared with those by epidemiologic diagnosis. However, troponin T was not elevated in 13% of the 127 patients with the clinical diagnosis and in 14% of the 137 patients with the epidemiologic diagnosis of MI. Among patients in whom clinical diagnosis of MI was not made, the prognosis with regard to coronary death or nonfatal MI was not significantly worse in patients with troponin T >0.10 microg/L than < or =0.10 microg/L (hazard ratio 1.07; 95% confidence interval 0.62 to 1.84). In patients with a suspected acute coronary syndrome, troponin T-based diagnostics leads to an increase in the number of patients diagnosed with MI compared with clinical or epidemiologic diagnosis. The prognostic impact of troponin T in patients without clinical diagnosis of MI based on elevations in conventional enzyme activities needs further study in larger series of patients.

C-reactive protein, fibrinogen, interleukin-6 and tumour necrosis factor-alpha in the prognostic classification of unstable angina pectoris.

BACKGROUND: Inflammatory process has been found to play an important role in the pathogenesis of coronary heart disease (CHD) and in the prognosis of CHD patients. AIM. The aim of this study was to investigate the prognostic value of C-reactive protein (CRP), fibrinogen, interleukin (IL)-6 and tumour necrosis factor-alpha (TNF-alpha) in patients with unstable angina pectoris (UAP), including factor analysis to assess their joint effects. METHODS: The study comprised 263 consecutive patients (159 men, 104 women; median age 68 years) with UAP. Blood samples for the acute-phase protein and cytokine determinations were drawn on admission. RESULTS: Coronary mortality during the median follow-up time of 17 months was 6-fold higher in the highest tertile for CRP and IL-6 and 3.5-fold higher in the highest tertile for fibrinogen and TNF-alpha than in the respective combined lower tertiles. Factor analysis produced two underlying factors, ie the 'inflammation' factor, including CRP, fibrinogen and IL-6, and the 'injury' factor, including troponin T, creatine kinase MB mass and TNF-alpha. In Cox models, both of these factors were independent predictors of the risk of coronary death and major coronary events (coronary death or nonfatal myocardial infarction). CONCLUSIONS: Elevated levels of acute-phase proteins and cytokines, particularly CRP and IL-6, are strong predictors of the risk of serious coronary events in patients with UAP.

Ruling out myocardial infarction with troponin T and creatine kinase MB mass: diagnostic and prognostic aspects.

OBJECTIVE: To investigate the time window for ruling out myocardial infarction (MI) with troponin T (TnT) and creatine kinase isoenzyme MB mass (CK-MBm) and the prognosis of patients with ruled-out MI diagnosis. DESIGN: The study was based on 397 patients admitted with a suspected acute coronary syndrome but with relief of symptoms within 24 h. RESULTS: MI diagnosis was confirmed with elevated TnT (>0.10 microg/l) in 108 patients. in 91% within 12-24 h from the onset of symptoms, and in 99% within 12 h from admission. In 94 of these patients CK-MBm became elevated (>5.0 microg/l). in 95% within 10-12 h from the onset of symptoms, and in 99% within 6 h from admission. Among patients with ruled-out MI diagnosis, the 1-year incidence of recurrent coronary events was 29% in those with positive history of coronary heart disease (CHD) but only 7% in those without prior CHD (p < 0.001). CONCLUSION: Using TnT or CK-MBm, MI can be ruled out within 12 h from admission in the majority of patients. Among patients with ruled-out MI diagnosis, positive history of CHD is an important determinant of prognosis.

Myoglobin, creatine kinase MB, troponin T, and troponin I - rapid bedside assays in patients with acute chest pain.

Three new rapid, qualitative bedside immunoassays were evaluated in the diagnosis of patients with acute chest pain. The subjects, 122 patients in group 1 (bedside tests for myoglobin, creatine kinase MB) and 233 patients in group 2 (bedside tests for troponin I and sensitive troponin T) were admitted to hospital with acute chest pain for less than 12 h. The bedside tests were performed on admission, and 2, 4, and 6 h later. The correlation between the two parts of the rapid creatine kinase MB/myoglobin test during the first 12 h after the onset of chest pain was moderate in all patients (kappa=0.401, 95% confidence interval 0.321-0.483). The highest correlation was seen with the patients with definite and probable myocardial infarction. The correlations were smaller but significant also in other diagnostic groups (unstable angina pectoris, prolonged chest pain, and non-cardiac chest pain). The correlation between the rapid sensitive test for troponin T and rapid test for troponin I was significant in all groups (kappa=0.776, 95% confidence interval 0.711-0.841). The myoglobin part of the rapid creatine kinase MB/myoglobin test may be too non-specific for clinical diagnostic purposes [in non-infarct patients the myoglobin part was significantly more often positive than creatine kinase MB or troponin tests (P<0.001)].

Troponin T and creatinine kinase isoenzyme MB mass in the diagnosis of myocardial infarction.

The aim of this study was to compare troponin T (TnT) and creatine kinase isoenzyme MB mass (CK-MBm) with conventional enzymes, ie CK, CK-MB activity and lactate dehydrogenase isoenzyme 1, in the diagnosis of myocardial infarction (MI). 624 patients (351 men and 273 women, median age 69 years) were admitted to hospital with suspicion of an acute coronary heart disease event. TnT was elevated (> 0.10 microg/L) in 100%, CK-MBm (> 5.0 microg/L) in 99%, and both markers in 99% of the 89 patients with the diagnosis of a definite MI according to modified FINMONICA criteria. In the 60 patients with the diagnosis of a probable MI, TnT was elevated in 65%, CK-MBm in 67% and both markers in 60%. In the patients with unstable coronary artery disease (unstable angina or prolonged chest pain attack) and conventional enzymes within normal limits, TnT was elevated in 14%, CK-MBm in 17% and both markers in 9%. The use of TnT and CK-MBm did not lead to a major change in the diagnostics of definite MI. However, TnT and CK-MBm did not confirm the diagnosis of probable MI in one-third of the events. These new markers revealed a myocardial injury in about 15% of those patients who had unstable coronary artery disease and conventional enzymes within normal limits.

Concordance of diet with the recommended cholesterol lowering diet in patients with coronary heart disease.

OBJECTIVE: The aim was to examine the concordance of diet with the recommended cholesterol lowering diet in Coronary Heart Disease (CHD) patients receiving usual care. DESIGN: CHD patients were selected for a survey from hospital records at least six months after hospitalization. Four patient groups divided according to the severity of disease were examined in cross-sectional setting. Food records and fatty acid composition of serum lipids were used to assess dietary intake. SUBJECTS: The study population consisted of 109 patients with coronary bypass grafting, 106 patients with balloon angioplasty, 101 patients with acute myocardial infarction and 99 patients with acute myocardial ischemia. RESULTS: Concordance of the diet with the cholesterol lowering diet was similar in the patient groups. One third of the patients achieved the recommended fat intake and only one fourth achieved the recommended saturated fat intake. Concordance was better in the patients who also used lipid lowering drugs, but previous myocardial infarction did not affect dietary intake of fat and saturated fat. Diabetic or obese patients tended to have a higher intake of saturated fat. Myristic acid in cholesterol esters, triglycerides and phospholipids and also palmitic and linoleic acids in triglycerides were markers of dietary saturated fat intake. CONCLUSIONS: Concordance of the diet with the recommended cholesterol lowering diet in CHD patients was moderate. Concordance was not affected by disease severity or previous myocardial infarction and was slightly worse in CHD patients who had diabetes or were obese or did not use lipid lowering drugs.

Cost-effectiveness of one-stage ultrasound screening in pregnancy: a report from the Helsinki ultrasound trial.

The objective of this study was to evaluate, in a controlled clinical trial, the costs of standardized one-stage ultrasound screening in pregnancy in relation to the reduction in perinatal mortality. A trial population of 9310 pregnant women was randomly allocated to ultrasound screening or a control group. Two obstetric hospitals and 64 recruiting antenatal health centers were involved. The costs included actually realized costs, i.e. positive costs, and gains, i.e. negative costs, resulting from lower health-care use. Cost-accounting data were obtained by a questionnaire to all attenders and measurements at the screening, and later complemented by a questionnaire to a random sample of 534 screened women. Internal accounting and other hospital data, national statistics and health-market sources were also used. The actually realized cost of each avoided perinatal death was FIM 84 378 ($21,938), while the net overall estimate combining all positive and negative costs showed a cost saving of FIM 65 680 ($17,077). The total positive unit cost of ultrasound screening was FIM 393 ($102). Longer ultrasound examination time and more numerous advanced examinations were rewarded by clearly fewer perinatal deaths and a better cost-effectiveness ratio. One-stage second-trimester ultrasound screening is cost-effective when all significant costs and effects are taken into account.

Use of antenatal care services in a controlled ultrasound screening trial.

BACKGROUND: The purpose of the present study was to evaluate whether systematically organized ultrasound screening would have an effect on the uptake of antenatal care services. METHODS: A total of 9310 women were randomised to an ultrasound screening (4691) or to a control (4619) group. The screening group had an ultrasound examination between the 16th and 20th week of gestation, but otherwise both groups had identical antenatal care. RESULTS: Antenatal outpatient clinic visits were significantly fewer (2.3 compared to 2.6, p < 0.0001) in the screening group. On the other hand women in the screening group had more visits to maternal health centers than those in the control group (12.9 compared to 12.6, p < 0.0001). No difference was noted between the groups with respect to days in hospital, rest at home on sick leave and visits for medical check-ups. CONCLUSION: Ultrasound screening reduced the need for specialist services and increased the use of basic maternal health care services.

Fetal anomalies in a controlled one-stage ultrasound screening trial. A report from the Helsinki Ultrasound Trial.

The aim of the study was to compare whether systematic strictly timed screening of all pregnancies would improve the detection of major fetal anomalies. All pregnant women (95%) from a certain area were randomly allocated for one ultrasound screening examination between the 16th and 20th weeks of gestation. Otherwise the screening (N = 4691) and control groups (N = 4619) received the same antenatal care. Screening included a systematic search for fetal anomalies. In the screening group, 40% of major fetal anomalies were detected in the screening, and 11 abortions were induced because the malformation was either lethal or severely handicapping. In the control group, 77.0% of participants had ultrasound examination any time during pregnancy. By ultrasound 13 (27%) major fetal anomalies were detected, only two of these before the 21st week of gestation. Screening detected most of the anomalies of the central nervous system and genitourinary system and cases with multiple anomalies, but was less satisfactory in detecting the anomalies of the heart and gastrointestinal tract. The perinatal mortality rate was 4.2 per 1000 in the screening group and 8.4 per 1000 in the control group (p = 0.013). The detection of major fetal anomalies in ultrasound screening can reduce perinatal mortality. A systematic search for fetal anomalies should be included in the ultrasound screening of all pregnancies.

Ultrasound screening and perinatal mortality: controlled trial of systematic one-stage screening in pregnancy. The Helsinki Ultrasound Trial.

During a 19-month period, 95% of all pregnant women in the greater Helsinki area, Finland, entered a study to compare one-stage ultrasonography screening with selective screening according to antenatal hospital use, obstetric procedures, and fetal outcomes. Of 9310 women who entered the trial, 4691 were randomly allocated to ultrasound screening between the 16th and 20th gestational weeks and 4619 to follow-up only. Screened and control groups otherwise had the same antenatal care, which included ultrasonography according to usual practice. Screened women made fewer visits to the antenatal outpatient clinic than did women in the control group (2.3 vs 2.6). There were no differences in the number of labour inductions or mean birthweights in the two groups. Perinatal mortality was significantly lower in the screened than in the control group (4.6/1000 vs 9.0/1000); this 49.2% reduction was mainly due to improved early detection of major malformations which led to induced abortion. All twin pregnancies were detected before the 21st gestational week in the screening group compared with 76.3% in the control group; perinatal mortality in the small series of twins was 27.8/1000 vs 65.8/1000, respectively.

[Ectopic pregnancy]. / Die ektopische Schwangerschaft.

In Finland there were 3 193 ectopic pregnancies registered during the years 1973-1976 (1,25% of the newborns) and 4 856 ectopic pregnancies (1,91%) during the years 1977-1980. Also in the State Maternity Hospital Helsinki the ectopic pregnancy rate rose from 0,8% to 1,4%. During the years 1977-1980 241 women were operated on. From 112 patients without postoperative contraception 48% gave birth, 33% remained infertile, 10% had a recurrent ectopic pregnancy and 9% had an abortion. The best results were achieved in the salpingectomy group. In cases of conservative operations expression was more favorable than salpingotomy. With the development of better diagnostic methods the possibility of conservative operations, partial resection of the tube, respectively, later followed by microsurgical anastomosis, will be increased.