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T Miettinen

Publications and source records attributed to T Miettinen.

26 records · Page 2Linked to original sources
PubMed1988

Identification of a deletion in the LDL receptor gene. A Finnish type of mutation.

A cDNA probe for the low density lipoprotein (LDL) receptor gene was used to screen DNA samples from 52 unrelated Finnish patients with the heterozygous form of familial hypercholesterolemia (FH) and 51 healthy controls. Southern blot analysis using the restriction enzyme PvuII revealed an abnormal 11 kb (kilo base-pair) restriction fragment in 16 (31%) of the patients but none of the controls. A more detailed restriction enzyme analysis of the DNA from patients revealed a mutation which apparently is due to an 8 kb deletion extending from intron 15 to exon 18 of the LDL receptor gene. Co-segregation of FH with the mutated gene was demonstrated in three families. These data are consistent with a 'founder gene effect' and support the assumption that recombinant DNA methods may have great impact on the diagnostics of FH in genetically homogeneous populations.

Adolescent↗
PubMed1987

Correlation between serum levels of some cholesterol precursors and activity of HMG-CoA reductase in human liver.

The possibility that the serum concentrations of various cholesterol precursors may reflect the activity of the hepatic HMG-CoA reductase was investigated in humans under different conditions. The serum levels of squalene, free and esterified lanosterol, (4 alpha, 4 beta, 14 alpha-trimethyl-5 alpha-cholest-8, 24-dien-3 beta-ol), two dimethylsterols (4 alpha, 4 beta-dimethyl-5 beta-cholest-8-en-3 beta-ol and 4 alpha, 4 beta-dimethyl-5 alpha-cholest-8, 24-dien-3 beta-ol), two methostenols (4 alpha-methyl-5 alpha-cholest-7-en-3 beta-ol and 4 alpha-methyl-5 alpha-cholest-8-en-3 beta-ol), two lathosterols (5 alpha-cholest-7-en-3 beta-ol and 5 alpha-cholest-8-en-3 beta-ol) and desmosterol (cholest-5, 24-dien-3 beta-ol) were measured in untreated patients (n = 7) and patients treated with cholestyramine (QuestranR, 8 g twice daily for 2-3 weeks, n = 5) or chenodeoxycholic acid (15 mg/kg body weight daily for 3-4 weeks, n = 8) prior to elective cholecystectomy. The activity of the hepatic microsomal HMG-CoA reductase was measured in liver biopsies taken in connection with the operation.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Hemorrhagic gastropathy in epidemic nephropathy.

A patient with epidemic nephropathy (NE) and with gastrointestinal symptoms and hemorrhagic gastropathy prompted us to study further 10 consecutive patients with NE. Gastroscopy was carried out within 1 to 4 weeks after the beginning of the symptoms, and in every case a hemorrhagic gastropathy was observed. Hemorrhagic lesions were more marked, the shorter the elapsed time interval from the beginning of symptoms. Hemorrhagic changes were always more prominent in the proximal than in the distal part of the stomach. In 7 of 10 patients lesions were also observed in the duodenum. Colonoscopy was done in one patient and it showed similar spotty hemorrhages, suggesting that hemorrhagic lesions were not limited to the gastroduodenal mucosa only. Histological studies disclosed that the hemorrhagic lesions were associated with edema in the lamina propria, but without inflammatory changes. Follow-up gastroscopy in three patients 3 to 8 weeks later showed disappearance of hemorrhagic lesions in every patient. Thus, these results show for the first time that hemorrhagic gastropathy is a common finding in NE, and it may explain the abdominal symptoms and gastrointestinal bleeding in some of these patients. However, the mechanism of the hemorrhagic lesions needs further exploration.

Adult↗
PubMedDate not supplied

Lack of correlation between serum dopamine-beta-hydroxylase activity and blood pressure in middle-aged men.

The activity of serum dopamine-beta-hydroxylase (DBH) was measured in 1194 asymptomatic middle-aged men with diastolic blood pressure ranging from 75 to 125 mm Hg during the baseline examination of a multifactorial intervention program for primary prevention of coronary heart disease. No correlation was present between serum DBH activity and systolic (r = -0.01, NS) or diastolic (r = +0.02, NS) blood pressure. No significant differences in serum DBH activity was observed between individuals with blood pressure in the lower, middle or upper deciles. Serum DBH activity was similar in subjects with normal blood pressure, in individuals with widely fluctuating blood pressure and in patients with fixed hypertension. The results suggest that serum DBH activity cannot be used as an aid in the diagnosis of essential hypertension of middle-aged men.

Adult↗
PubMedDate not supplied

Whiplash injuries in Finland: a prospective 1-year follow-up study.

OBJECTIVES: The aim of the study was to define how many whiplash injuries occur in Finland in traffic accidents and the degree of severity of these injuries using the whiplash-associated disorders (WAD) classification presented by the Quebec Task Force, and to define possible long-term health effects caused by whiplash injury as well as the duration of whiplash-associated sick-leaves. METHODS: This was a prospective one-year-follow-up study. Fourteen insurance companies paving compensations for traffic accidents in Finland sent the accident reports and medical certificates of all neck injuries attributable to traffic accidents to the research team. The material was collected from neck injuries that had occurred in traffic accidents during the year 1998. RESULTS: The majority of those suffering a whiplash injury were women. On the basis of the WAD classification, most whiplash injuries were mild, belonging to grades WAD I and II. At one year from the accident nearly 10% considered that their health had been impaired significantly as a result of their neck injury. Over 10% of those questioned had been on sick-leave for over a month but only 1.5% had been on sick-leave associated with the injury for more than 6 months. The most common symptom after one year was neck pain or neck pain combined with headache and symptoms in the upper extremities. No major changes related to the seasons of the year were found. CONCLUSIONS: The number of reported neck injuries in proportion to all traffic accidents involving physical injuries is small, even in proportion to rear-end collisions. In a considerable proportion of collision patients, whiplash injury does result in significant impairment which can last as long as a year after the accident. The WAD classification predicts the duration of work disability and the long-term health damage caused by the injury. Since the appearance of symptoms and the individual need for rehabilitation due to impaired functional capacity do not depend solely on the tissue damage and biomechanical forces involved in the collision, in the future it will be important to determine which factors are responsible for the differences in coping after a collision.

Accidents, Traffic↗