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Biomedical subjects

L Forsgren

Publications and source records attributed to L Forsgren.

At least 73 records · Page 4Linked to original sources

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

The hereditary dystonias include a clinically heterogeneous group of movement disorders varying in symptoms, age of onset, and drug responsiveness. Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinephrine, has been implicated in dystonia because of increased serum levels of DBH in some patients, the influence of catecholaminergic drugs on the human phenotypes, and altered norepinephrine levels in several brain regions in dystonia patients and in genetically dystonic rodents. In addition, markers linked to the dystonia gene in two ethnic groups map close to the DBH locus on human chromosome 9q34. Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia. In all families, obligate recombination events were observed between the DBH and dystonia genes, thus excluding the DBH gene as the primary defect.

Adolescent↗

Attitudes of rural people in central Ethiopia towards epilepsy.

In the farming community of the sub-district of Meskan and Mareko in central Ethiopia, where the prevalence of epilepsy is known to be 5.2/1000, a door-to-door survey was undertaken in 1546 sampled households to find out public attitudes to epilepsy. Nearly 64% of the respondents were in the age group of 14-50 years, and 58.6% were women. The majority (86%) were illiterate, and 94% had incomes of a subsistence level; 89% had heard or witnessed seizures. Traditional views on the association of evil spirits and superstition was prevalent. By 45% of the interviewees, the disease was believed to be contagious through physical contacts during an attack. Although there was sympathetic concern in the community for the person suffering from epilepsy, negative attitudes were strong on matrimonial associations, sharing of accommodation and physical contacts with affected persons, particularly when there were obvious signs and frequent attacks by seizures. The study demonstrates that the rural community has very poor knowledge of the causes and nature of epilepsy, and this has resulted in social deprivations and at times, rejection of the sufferers.

Adolescent↗

Pre- and perinatal factors in febrile convulsions.

In a community based study, 110 children with febrile convulsions (FC) were identified prospectively. Pre- and perinatal risk factors were compared with 213 age and sex matched controls sampled from the community. During pregnancy, proteinuria and preeclampsia/eclampsia occurred more often in mothers of cases. Premature birth and bilirubinemia greater than 200 mumol/l were also more common in cases. There were no differences between cases and controls in occurrence of chronic illnesses in mothers, parents age at birth, birth order, and factors occurring during delivery such as type of anesthesia, occurrence of acute or elective cesarean section, use of vacuum extraction, mode of presentation, signs of fetal distress in amnion fluid, umbilical problems, abnormalities of fetal heart rate or duration of delivery. Perinatal asphyxia was uncommon and there was no difference between cases and referents. Occurrence of complications during the first neonatal week did not differ between groups.

Bilirubin↗

Electroencephalographic and neuroradiological findings in adults with newly diagnosed unprovoked seizures.

Adult persons, 17 years old or older, with newly diagnosed (incident) epileptic seizures were prospectively identified in a community-based study. Electroencephalographic (EEG) recordings when awake and/or during sleep were performed in 103 persons (96.3%). Epileptiform activity was recorded during wakefulness in 18 of 101 persons (18%) and during sleep in another 11 persons (10.7%) of whom 10 had no epileptiform activity on wake EEGs. Pathological findings on EEGs recorded during sleep or when awake were more common in persons with partial seizures than in those with primary generalized tonic-clonic seizures. EEG recording during sleep significantly increased the proportion of pathological findings in partial seizures compared with other seizure types. 45 persons (42.1%) were neuroradiologically investigated by both computerized tomography (CT) and magnetic resonance imaging (MRI) using a low-field-strength imager (0.02 tesla). 2 persons with normal CT had pathological findings on MRI. 4 persons with normal MRI had pathological findings on CT.

Adolescent↗

Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation.

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.

Adolescent↗

Clinical and electroencephalographic characteristics of epilepsy in rural Ethiopia: a community-based study.

A community-based epidemiological study of neurological disorders was performed in a rural area in Ethiopia. The most prevalent neurological disorder identified was epilepsy, found in 316 persons. The prevalence of epilepsy was 5.2/1000 inhabitants at risk, 5.8 for males, 4.6 for females. The highest age-specific prevalence was found for ages 10-19 years. Generalized tonic-clonic seizures were the most common seizure type and occurred in 81%. On clinical grounds, partial seizures occurred in 20% and in 29% of these secondary generalization followed. During seizures, 8.5% had been injured by burns and 5.7% by trauma. Eighty-four percent had seizures at least monthly. Seizures occurred in 4.8% of siblings. Traditional treatment with local herbs, holy water and amulets was the most common. Only 1.6% had been treated with recognized antiepileptic drugs. Mental retardation was the most common associated disorder, found in 7.9% of the persons with epilepsy. During a period of 2 years, 8 persons died of status epilepticus and 1 from severe burns as a result of falling into a domestic fire during a seizure. EEG was recorded in 73%. Epileptiform activity occurred in 18%.

Adolescent↗

Epilepsy in a population of mentally retarded children and adults.

All mentally retarded (MR) subjects in a northern Swedish county were assessed for the occurrence of active epilepsy on a prevalence day. Active epilepsy was found in 299 subjects (20.2% of those with MR) corresponding to a crude prevalence rate of 1.2/1000 inhabitants. The age-specific prevalence for 0-9 years was higher for females than for males, while in other age groups it was slightly higher for males or showed no difference between the sexes. Epilepsy and MR were the only disorders in 129 subjects (43.1%). Cerebral palsy was the most common associated disorder and occurred in 100 (33.4%). A presumable etiology for epilepsy and MR was identified in 73.2% and 71.9%, respectively. The presumable etiological factors which caused MR occurred prenatally in 35%, perinatally in 10% and postnatally in 9%. The pathogenetic period was unknown in 31%. In 15%, the etiological events occurred during more than one of the above periods. The presumable causes were responsible for both epilepsy and MR in all except 7 cases. MR individuals with epilepsy were significantly more retarded than those without epilepsy. The first seizure occurred during the neonatal period in 11.6% and before 1 year of age in 27.7%. Generalized tonic-clonic seizures were the most common type and occurred in 204 subjects (68.2%). Seventy-one of these also had partial seizure manifestations. Daily to weekly seizures occurred in 26.8% and 32.0% had been seizure-free for the past year.

Adolescent↗

An incident case-referent study of febrile convulsions in children: genetical and social aspects.

In a prospective community-based study of 103 children with febrile convulsions (FC), social and genetical factors were compared with 193 age and sex matched referents sampled from the community. FC were found more often among parents of cases than referents (odds ratio 21.0; p less than 0.001). A history of FC in any type of relative was found in 39.8% of cases and 10.4% of referents (odds ratio 5.8; p less than 0.001). The familial occurrence of FC is best described by a multifactorial (polygenic) model. No difference was found between groups in the occurrence of other diseases than FC affecting the central nervous system and only one case was mentally retarded. No difference was found between cases and referents in the age of independent walking and ability to speak at age 18 months. Children with FC more often had infectious diseases than referents (odds ratio 2.84; p = 0.002). Children with FC more often lived in apartments and spent their time in day by day care institutions (odds ratio 2.91; p = 0.02). Parents' occupation did not differ between groups. Mothers of children with FC more often had compulsory education only compared with mothers of referents.

Child↗

A prospective incidence study of febrile convulsions.

A prospective epidemiological study of febrile convulsions (FC) was performed during a 20-month period. 128 children with FCs were identified. The annual first attendance rate and annual incidence rate were 500/100,000 and 460/100,000 respectively, in the age group 0-4 years. The cumulative incidence was 4.1%. FCs were more common among boys, with a male to female ratio of 1.72 to 1. The median and mean age for first FC was for boys 16 and 19.9 months respectively, and for girls 18 and 19.7 months respectively. During an average follow-up period of 20 months, 18% had another FC and 10% had two or more FCs. 8.6% had an initial complicated FC. Four children had FCs within two weeks after being vaccinated by combined vaccine against morbilli, rubella and parotitis. Three of these had earlier had an FC.

Age Factors↗

Community-based study of neurological disorders in rural central Ethiopia.

Between 1986 and 1988 a door-to-door survey was conducted on a stable rural population of 60,820 in central Ethiopia. Trained lay health workers made a complete census and identified cases with symptoms and signs of neurological disorders, using specially designed questionnaires which, in a previous pilot study, were found to have a sensitivity of 91% and specificity of 85%. Neurological disorders in the rural population were epilepsy, postpoliomyelitis paralysis, mental retardation, peripheral neuropathy (mainly due to leprosy), and deaf-mutism with prevalence rates (cases/100,000 population) of 520, 240, 170, 150 and 130, respectively. The prevalence rates of the other less common neurological disorders were 62 for hemiparesis (15 of which were for cerebrovascular accidents), 20 for cerebral palsy, 16 for optic atrophy, 12 for perceptive deafness, 10 for tropical spastic paraparesis, 7 for Parkinson's disease and 5 for motor neuron disease, ataxia and chorea/athetosis. Among related non-neurological conditions, blindness, locomotor disability and deafness were predominant. The significance and role of such a neuroepidemiological study in laying the strategies for the prevention of neurological disorders and rehabilitation of patients are discussed in the context of a developing country.

Adolescent↗

Community-based study of neurological disorders in Ethiopia: development of a screening instrument.

This paper describes the development of a screening instrument for a community-based neuroepidemiological survey in a rural community in Ethiopia. A pilot study in 1984 to pre-test the questionnaires developed revealed that epilepsy, poliomyelitis, mental retardation and speech disturbances were the most common neurological disorders among the 3,000 rural inhabitants surveyed. The study suggested that a base-population of about 50,000 was required for a future major epidemiological survey to identify rare neurological disorders.

Adolescent↗

The effect of an airbrasive instrument on soft and hard tissues around osseointegrated implants. A case report.

A 40-year-old woman with natural teeth in the upper jaw and a complete lower denture was treated with six osseointegrated implants connected to a fixed bridge. On a recall visit 6 months posttreatment an air powder abrasive devise Prophy-Jet had been used to remove calculus and debris from the titanium abutments by the referring dentist. This resulted in an acute clinical reaction characterized by pain and submucosal emphysema. Furthermore, radiographs revealed break down of the marginal bone surrounding the fixtures. The treatment and follow-up period became long. These observations suggest that the use of air powder abrasive instruments is not the treatment of choice in the maintenance care of osseointegrated titanium implants.

Adult↗

Haptoglobin groups in motor neuron disease.

Haptoglobin (Hp) groups were investigated in 81 patients with motor neuron disease. A significant excess of heterozygotes was observed, accentuated among males and in the progressive spinal muscular atrophy subgroup. The results are discussed in terms of a possible influence of Hp in the immunological response.

Female↗

Monoamine oxidase (MAO), 5-hydroxyindole acetic acid (5 HIAA) and homovanillic acid (HVA) in motor neuron disease.

Thrombocyte monoamine oxidase (MAO) activity and concentrations of 5-hydroxyindole acetic acid (5-HIAA) and homovanillic acid (HVA) in the cerebrospinal fluid (CSF) were studied in patients with motor neuron disease (MND) and healthy controls. The MAO activity in MND (n = 32) did not differ from age and sex-matched controls (n = 27) or from healthy relatives (n = 9) and no difference was found between advanced and mild cases. In an attempt to explain divergent results from other studies, the effect of storage time on analysis of platelet concentration was studied in three healthy subjects and in three patients with MND. No difference was observed between the groups. No differences were found between the MND group (n = 28) and healthy controls (n = 18) with regard to CSF levels of 5-HIAA and HVA, except for an increase of 5-HIAA among males with MND. The results of this study do not confirm earlier studies that have reported extensive changes in the variables analyzed in patients with MND.

Blood Platelets↗

Acute effects of different antidepressant drugs on saliva secretion and accommodation range.

In a double blind controlled cross-over trial on 20 healthy volunteers, the anticholinergic side-effects of single doses of amitriptyline (75 mg), zimelidine (100 mg), maprotiline (75 mg), and placebo were compared. Anticholinergic side-effects were determined by means of self-rating of dryness in the mouth (visual analogue scale), determination of unstimulated and stimulated saliva secretion rate and accommodation range. There were no significant effects recorded after intake of placebo, which supports the test-retest reliability and the validity of the methods. Amitriptyline produced the most pronounced anticholinergic side-effects followed by maprotiline and zimelidine in decreasing order. There were no significant correlations between self-rating of dry mouth and saliva secretion rate or between accommodation ability and saliva secretion rate.

Adult↗

Long-term effects of two principally different antidepressant drugs on saliva secretion and composition.

In a double-blind, controlled, cross-over trial on 10 healthy volunteers, the effects of daily doses of maprotiline (75 mg) and zimelidine (100 mg) over a 14-day period were tested on saliva secretion rate and saliva composition. Based on current knowledge of salivary gland physiology and the difference in specificity between the two drugs, differences in salivary gland response could be expected. Since both drugs have anticholinergic effects which influence saliva secretion rate, the measured component concentrations had to be recalculated with regard to dependencies of secretion rate. Maprotiline, but not zimelidine, caused strong inhibition of secretion rate and accommodation ability. Maprotiline consistently caused around 50% increases in concentrations of the following saliva components: protein, amylase, fucose, hexose, sialic acid and potassium. The effects of zimelidine were less pronounced and resulted in initial increases of most organic components. 14 and 18 h after the intake of the drug these increases had disappeared and some of the components instead showed decreased concentrations. The results are consistent with current theories about facilitated serotoninergic and noradrenergic transmissions during treatment with antidepressants.

Absorption↗

Acute effects of some different antidepressant drugs on saliva composition.

In a double-blind controlled cross-over trial on 20 healthy volunteers, the acute effects of single doses of amitriptyline (75 mg), zimelidine (100 mg), maprotiline (75 mg), and placebo were tested on saliva composition. From the current knowledge of the physiological regulation of the salivary glands and the different specificities of the three drugs, different responses from the salivary glands could be expected. As all three drugs have anticholinergic effects that influence the saliva secretion, the concentrations of secreted saliva components had to be recalculated with regard to changes in secretion rate. No changes in saliva composition were recorded after the intake of placebo. The most pronounced changes were observed after amitriptyline intake. Amitriptyline caused increases in the concentrations of proteins, glycoproteins, calcium and potassium. Zimelidine initially decreased the concentrations of glycoproteins and increased the concentration of calcium. Maprotiline increased the concentrations of proteins and sodium. Most of the results fit in well with the theories about facilitated serotoninergic and adrenergic transmission during treatment with antidepressants.

Adult↗