BACKGROUND AND PURPOSE: The aim of our study was to compare outcome and its determinants in familial subarachnoid hemorrhage and in sporadic subarachnoid hemorrhage in a large and well-documented patient population. METHODS: Patients with aneurysmal subarachnoid hemorrhage (SAH) treated at the Department of Neurosurgery, Kuopio University Hospital, from 1977 to 1995 were included. Patients with polycystic kidney disease were excluded. The Glasgow Outcome Scale (GOS) score at 12 months was studied. RESULTS: There were 120 patients (97 first-, 15 second-, and 8 third-degree family connections) in 96 different families with familial SAH and 1237 patients with sporadic SAH. Age, gender, and admission grade on the Hunt and Hess scale did not differ between these 2 groups. In both groups >80% of patients were in relatively good condition at admission. The outcome was good (GOS score of 1 to 2) in 87 patients (73%) with familial SAH and in 874 patients (71%) with sporadic SAH. Analysis of 20 variables, including presence of coexisting diseases, aneurysm site and size, amount of blood shown on CT scan, intraventricular bleeding, preoperative intracerebral hematoma and hydrocephalus, as well as postoperative bleeding and vasospasm, revealed no significant differences between study groups. The degree of family connection (first-, second-, and third-degree) did not have any statistically important effect on outcome in the familial group in the Finnish study population. In multivariate analysis the knowledge of familial SAH was not an independent prognostic factor. CONCLUSIONS: Admission status, postoperative course, and outcome were similar in the familial and sporadic SAH groups in this Finnish population, in contrast to previous results. Familial SAH may not be a significant risk factor for poor outcome. (+info)
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
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A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family. (+info)
Impact of social interactions in the community on the transmission of tuberculosis in a high incidence area.
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BACKGROUND: Tuberculosis (TB) is transmitted by close contact with an infectious person. It is assumed that close contact occurs amongst household members and that contact outside the house is "causal" and does not play a major role in the transmission of TB. METHODS: This study was conducted in an impoverished area with a high incidence of TB and a low HIV seropositive prevalence. Thirty three households with 84 TB patients were identified between February 1993 and April 1996 and the transmission of TB was studied by combining Mycobacterium tuberculosis fingerprinting with in depth sociological interviews. RESULTS: Forty two strain genotypes were identified in the 84 patients. In 15 households all the patients had identical strains, in nine households all the patients had different strains, and in nine households some patients had identical strains and one had a different strain. In 26 houses at least one patient had a strain which formed part of a larger community cluster and in 12 of these households the patient(s) had contact with a community member who had the identical strain. In 58% of the cases the contact took place while drinking in social groups. CONCLUSION: In high incidence areas contact outside the household may be important for the transmission of TB. This contact often takes place during recreation which, in the case of this study of impoverished people, consisted of drinking in social groups. Social interaction patterns should be studied and understood for effective implementation of control strategies. (+info)
Adolescents' pregnancy intentions: relations to life situations and caretaking behaviors prenatally and 2 years postpartum.
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PURPOSE: This study explores if and how adolescents' pregnancy intentions relate to life situations and health-related behaviors prenatally and up to 2 years postpartum. METHODS: Adolescent girls who reported that they had "wanted a baby" (n = 75) as their reason for pregnancy were compared with those who reported that the pregnancy "just happened" (n = 79) at four separate time periods: prenatally, at 6 and 24 months postpartum, and at 18 months postpartum for teens who became pregnant again subsequent to the study pregnancy. RESULTS: Those who stated that they wanted a baby were more likely to be Hispanic, married, and out of school before becoming pregnant. They were less likely to receive welfare as their primary means of support and to have run away from home in the past than teens who stated that their pregnancy just happened. Self-reported reason for pregnancy was unrelated to repeat pregnancy by 18 months postpartum, but those who had wanted the study baby were less likely to undergo elective termination of a subsequent pregnancy and less likely to become pregnant by a different partner. The groups diverged at 24 months postpartum when those who wanted a baby were more likely to be married to the father of the baby, be financially supported by him, receive child care assistance from him, and have attempted or succeeded at breastfeeding the study child. CONCLUSION: Self-reported reason for pregnancy reveals many important characteristics of pregnant adolescents both at the time of presentation and up to 2 years postpartum. Young women in this study who reported intentional pregnancy seem to fare better with regard to their financial status and their relationship with the father of the baby. (+info)
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.
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The N-terminal extracellular domain of the cadherins, calcium-dependent cell adhesion molecules, has been shown by X-ray crystallography to be involved in two types of interaction: lateral strand dimers and adhesive dimers. Here we describe the first human mutation in a cadherin present in desmosome cell junctions that removes a portion of this highly conserved first extracellular domain. The mutation, in the DSG1 gene coding for a desmoglein (Dsg1), results in the deletion of the first and much of the second beta-strand of the first cadherin repeat and part of the first Ca2+-binding site, and would be expected to compromise strand dimer formation. It causes a dominantly inherited skin disease, striate palmoplantar keratoderma (SPPK), mapping to chromosome 18q12.1, in which affected individuals have marked hyperkeratotic bands on the palms and soles. In a three generation Dutch family with SPPK, we have found a G-->A transition in the 3" splice acceptor site of intron 2 of the DSG1 gene which segregated with the disease phenotype. This causes aberrant splicing of exon 2 to exon 4, which are in-frame, with the consequent removal of exon 3 encoding part of the prosequence, the mature protein cleavage site and part of the first extracellular domain. This mutation emphasizes the importance of this part of the molecule for cadherin function, and of the Dsg1 protein and hence desmosomes in epidermal function. (+info)
Effect of lithium maintenance therapy on thyroid and parathyroid function.
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OBJECTIVES: To assess changes induced by lithium maintenance therapy on the incidence of thyroid, parathyroid and ion alterations. These were evaluated with respect to the duration of lithium therapy, age, sex, and family history (whether or not the patient had a first-degree relative with thyroid disease). DESIGN: Prospective study. SETTING: Affective Disorders Clinic at St. Mary's Hospital, Montreal. PATIENTS: One hundred and one patients (28 men and 73 women) with bipolar disorder receiving lithium maintenance therapy ranging from 1 year's to 32 years' duration. The control group consisted of 82 patients with no psychiatric or endocrinological diagnoses from the hospital's out-patient clinics. OUTCOME MEASURES: Laboratory analyses of calcium, magnesium and thyroid-stimulating hormone levels performed before beginning lithium therapy and at biannual follow-up. RESULTS: Hypothyroidism developed in 40 patients, excluding 8 patients who were hypothyroid at baseline. All patients having first-degree relatives affected by thyroid illness had accelerated onset of hypothyroidism (3.7 years after onset of lithium therapy) compared with patients without a family history (8.6 years after onset of lithium therapy). Women over 60 years of age were more often affected by hypothyroidism than women under 60 years of age (34.6% versus 31.9%). Magnesium levels in patients on lithium treatment were unchanged from baseline levels. After lithium treatment, calcium levels were higher than either baseline levels or control levels. Thus, lithium treatment counteracted the decrease in plasma calcium levels associated with aging. CONCLUSIONS: Familial thyroid illness is a risk factor for hypothyroidism and hypercalcemia during lithium therapy. (+info)
Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.
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Familial benign polycythemia (FBP) (OMIM 263400) is a rare autosomal recessive condition characterized by erythrocytosis, normal leukocyte and platelet counts, normal uric acid level, and usually increased erythropoietin production. There is a high incidence of this disorder in Chuvashia (Russian Federation), probably due to a founder effect. In an attempt to locate the gene responsible for this disorder, we have carried out linkage studies in 12 Chuvash families, with 35 affected and 32 unaffected members. Linkage to the erythropoietin and erythropoietin receptor loci was excluded, and the FBP gene was assigned to the region of chromosome 11q23 between D11S4142 and D11S1356, with a maximal lod score of 6.61. (+info)
Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators.
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Type 2 diabetes mellitus (NIDDM) is a complex disorder encompassing multiple metabolic defects. There exists strong evidence for a genetic component to NIDDM; however, to date there have been few reports of linkage between genetic markers along the genome and NIDDM or NIDDM-related quantitative traits. We sought to determine whether individual quantitative traits which determine glucose tolerance exhibit familiality in Finnish families with at least one NIDDM-affected sibling pair. Tolbutamide-modified frequently sampled intravenous glucose tolerance tests (FSIGT) were performed on unaffected offspring (n = 431) and spouses (n = 154) of affected sibling pairs sampled for the Finland-United States Investigation of NIDDM Genetics (FUSION) study. FSIGT data were analyzed using the Minimal Model to obtain quantitative measures of insulin sensitivity (SI), glucose effectiveness (SG), and insulin secretion assessed as the acute insulin response to glucose (AIR). The disposition index (DI), a measure of insulin resistance-corrected beta-cell function, was also derived as the product of SI and AIR. Variance components analysis was used to determine for each trait, the heritability (h2), the proportion of the total trait variance accounted for by additive genes. After adjustment for age, gender, and body mass index, h2 estimates were: SG: 18 +/- 9%, SI: 28 +/- 8%, AIR: 35 +/- 8%, and DI: 23 +/- 8%. We conclude that there is strong evidence for modest heritability of Minimal-Model-derived NIDDM-related quantitative traits in unaffected spouses and offspring of Finnish affected sibling pairs. (+info)