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Biomedical subjects

S Nordström

Publications and source records attributed to S Nordström.

At least 19 recordsLinked to original sources
PubMed1992

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.

A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01 with DNA marker INT2 (also called FGF3). The retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.

Chromosomes, Human, Pair 11↗
PubMed1989

Genetic genealogical studies of 20 north Swedish families with the rare blood group p.

In the county of Västerbotten in northern Sweden, a large number of individuals with the rare blood group p have been found. The ancestors of all known 31 cases were studied genealogically, and the data showed that about one half of all cases (15 out of 31 in 9 out of 20 families) could be traced to one gene source in the north-eastern part of the county in the middle of the 17th century. In two of the families the parents were first cousins and in three they were second cousins. In the 18th and 17th centuries genealogical connections between the parents were found in another 10 of the families.

Adult↗
PubMed1987

Secondary aortoenteric fistulas--an analysis of 42 cases.

Secondary aortoenteric fistulas are seen with an increasing frequency which parallels the expansion of reconstructive vascular surgery. During a 12-year period 42 cases have been collected from the hospitals, which perform most of the vascular surgery in Sweden (0.7% of vascular operations). Twenty-five were seen after operation for aortic aneurysm, 15 for aortoiliac occlusive disease, one after renal artery ligation (as a part of reconstruction for renovascular hypertension) and one after operation for an iliac pseudoaneurysm. The frequency of complications during and after the primary operation was high. The interval between operation and onset of fistula symptoms was significantly shorter if there had been infectious complications, the median interval was 32 months, the longest being 10 years. The most important symptom was gastrointestinal haemorrhage, consisting of several small bleeds often combined with septic complications. A large number of negative investigations usually preceded the final diagnosis which was made at exploratory laparotomy. After surgery for the fistula the frequency of complications and mortality, were very high. Mortality was 58%, the most common cause of death being a blow out of the aortic stump. Of those leaving hospital, several further operations were performed with a high mortality. Recurrence of the fistula occurred in 16 out of 34 patients who survived surgery. At follow-up (12-74 months after fistula closure) seven patients were still alive.

Adolescent↗
PubMed1987

Thoracolumbar epidural anaesthesia blocks the circulatory response to laryngoscopy and intubation.

Laryngoscopy and endotracheal intubation cause a stress reaction resulting in an increase in heart rate and systemic blood pressure. This haemodynamic response is considered to be due to a sympathetic discharge caused by stimulation of the upper respiratory tract. This stress reaction during laryngoscopy and endotracheal intubation was studied in patients with total thoracolumbar epidural anaesthesia (EDA). Nine patients with thoracolumbar EDA including at least the segments T1 to L2 were compared to seven patients without EDA during induction of general anaesthesia. The epidural anaesthesia was achieved with 2% mepivacaine with adrenaline. General anaesthesia was induced with thiopentone 4-5 mg/kg followed by 100 mg suxamethonium. The highest blood pressure value during the first 2 min after intubation was compared to the value immediately before intubation. The epidural anaesthesia caused a reduction of the mean arterial blood pressure (MAP) by 25%, and a reduction of the heart rate (HR) by 7%, but neither the induction with thiopentone nor the laryngoscopy and intubation caused any changes in mean arterial blood pressure or heart rate. However, in the control group MAP increased 29% and HR 16% following intubation. Thus, the T1-L2 epidural anaesthesia with 2% mepivacaine with adrenaline blocked the blood pressure reaction to laryngoscopy and intubation, and consequently the efferent sympathetic nervous system was completely blocked.

Adult↗
PubMed1984

Clastogenic effects in human lymphocytes of power frequency electric fields: in vivo and in vitro studies.

In vivo and in vitro studies of the clastogenic effects of power frequency electric fields and transient electric currents have been performed. For the in vivo investigation peripheral lymphocytes from twenty switchyard workers were screened for chromosome anomalies. The rates of chromatid and chromosome breaks were found to be significantly increased compared to the rates in 17 controls. Exposure of human peripheral lymphocytes, in vitro, to a 50-Hz current with 1 mA/cm2 current density did not induce any chromosome damage. Exposure to ten 3 mus-long spark discharge pulses with a peak field strength in the samples of 3.5 kV/cm, however, resulted in chromosome breaks at a frequency similar to that induced in lymphocytes in vitro by ionizing radiation at 0.75 Gy. The biological significance of chromosomal damage induced in somatic cells is discussed.

Adult↗
PubMed1983

Reproductive hazards among workers at high voltage substations.

A retrospective study on reproductive hazards was performed among 542 employees at Swedish power plants. Questionnaires were answered by 89% of the employees. Data on pregnancies were checked by studying hospital case records. There was a statistically significant, decreased frequency of "normal" pregnancy outcome, almost exclusively due to an increased frequency of congenital malformations, when the father was a high-voltage switchyard worker. The differences in pregnancy outcome could not be explained by any of the confounding factors analyzed. The total number of children with malformations (26) and the total number of pregnancies in this study, however, were very small.

Abnormalities, Radiation-Induced↗
PubMed1983

Vascular complications in the Ehlers-Danlos syndrome.

The Ehlers-Danlos syndrome is a rare condition, which usually is easily recognized. In one type of this disease, type IV, arterial fragility dominates, and the syndrome may remain undiscovered until the patient has a traumatic or spontaneous arterial rupture. Two cases with a fatal outcome are presented in order to emphasize some important aspects in the management of these patients.

Adult↗
PubMed1982

Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden.

Genealogical links between three Swedish families with hereditary pyrophosphate arthropathy were found in the 18th century, indicating a possible founder effect, similar to earlier findings in Slovakia, France and Chile. However, no connection between the Swedish and other European families with the disease has so far been found. In accordance with other reported familial aggregations of pyrophosphate arthropathy, the transmission of the disease in the Swedish families appeared to be autosomal dominant with incomplete penetrance and variable expressivity. Severe symptoms related to homozygotic cases reported in some other families were not found in Sweden.

Adult↗
PubMed1980

Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden.

Congenital achromatopsia with amblyopia is a recessive disorder. The authors report the origin of 9 cases in 4 sibships from one small parish in northern Sweden suggesting a gene source for achromatopsia in this population. The study confirms that complete and incomplete achromatopsia might be different expressions of the same gene. A tendency towards a heterozygotic manifestation of the gene was found.

Amblyopia↗
PubMed1979

Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden.

Two families from northern Sweden with a total of 8 patients with typical symptoms of congenital achromatopsia with amblyopia were studied. In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. The study confirmed that complete and incomplete achromatopsia might be different expressions of the same gene. Six out or 13 near relatives of the achromatic patients showed minor colour vision defects, suggesting a tendency towards heterozygotic manifestation of the gene.

Adolescent↗