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Juha Hernesniemi

Publications and source records attributed to Juha Hernesniemi.

11 recordsLinked to original sources
PubMed2003

Familial intracranial aneurysms: an analysis of 346 multiplex Finnish families.

BACKGROUND AND PURPOSE: Genetic risk factors are considered important in the development, growth, and rupture of intracranial aneurysms; however, few have been identified. We analyzed intracranial aneurysm families with at least 2 affected persons and determined relationships between affected persons and assessed the inheritance patterns of aneurysms. METHODS: Families with > or =2 members with verified diagnoses of intracranial aneurysms were recruited from Kuopio and Helsinki, Finland. Families with a diagnosis of other heritable disorders that have associated intracranial aneurysms, such as autosomal dominant polycystic kidney disease, were excluded. RESULTS: We identified 346 Finnish multiplex families with 160 (46.2%) male and 186 (53.8%) female index cases. There were a total of 937 aneurysm cases, with an average of 2.7 cases per family. The majority of the families had only 2 affected relatives (n=206; 59.5%), although there were families with up to 6 (n=10), 7 (n=1), 8 (n=1), or 10 (n=2) affected persons. The affected relatives of the index cases included 108 sisters, 116 brothers, 105 parents, 30 children, 15 grandparents, 102 aunts or uncles, and 64 cousins. Of the 937 affected persons, 569 (60.7%) were alive and available for genetic analysis. Inheritance patterns consistent with autosomal recessiveness were observed in 198 (57.2%), autosomal dominance in 126 (36.4%), and autosomal dominance with incomplete penetrance in 19 (5.5%) of the families. CONCLUSIONS: The collection is the most extensive published to date and extends previous observations of familial aggregation that are consistent with a major gene effect.

Female↗
PubMed2003

Multiple aneurysms.

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Aneurysm, Ruptured↗
PubMed2002

Search for intracranial aneurysm susceptibility gene(s) using Finnish families.

BACKGROUND: Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci. METHODS: We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect. RESULTS: Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6. CONCLUSIONS: Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests.

Journal Article↗
PubMed2002

Cerebral perfusion before and after endovascular or surgical treatment of acutely ruptured cerebral aneurysms: a 1-year prospective follow-up study.

OBJECTIVE: To prospectively determine temporal changes in regional cerebral perfusion in patients with acutely (<72 h) ruptured cerebral aneurysms treated either endovascularly or surgically. METHODS: Cerebral perfusion was measured both before and 1 week after treatment by use of a (99m)Tc-labeled ethyl-cysteine dimer and single-photon emission computed tomographic (SPECT) studies in 46 of 81 consecutive patients included in a prospective randomized study of early treatment of ruptured aneurysms. In addition to visual analysis of the SPECT images, corticocerebellar perfusion ratios were calculated for seven predefined bilateral regions. Late ischemic deficits were evaluated after 12 months by magnetic resonance imaging of the brain. RESULTS: Acute perfusion deficits were commonly seen before treatment. In the visual comparison between the first and second SPECT studies, the number of new or enlarged deficits (P = 0.006) and deficits that expanded from unilateral to bilateral (P = 0.020) significantly increased in the surgical group but not in the endovascular group. In the second SPECT study, surgical patients had decreased corticocerebellar perfusion ratios in the right frontobasal cortex (P = 0.012) compared with the endovascular patients, and in the ipsilateral frontobasal cortex (P = 0.002) and ipsilateral temporal apex (P = 0.002) compared with the contralateral side of the ruptured aneurysm. The 12-month magnetic resonance imaging of the brain revealed no significant difference in the number of ischemic deficits between the endovascular and surgical groups. CONCLUSION: Disturbances in cerebral perfusion both before and after treatment are common. Although no major differences in the findings were detected between patients treated with either clips or coils, progression of perfusion deficits was more common in the surgical group. However, the 12-month magnetic resonance imaging of the brain revealed equal numbers of ischemic deficits in the treatment groups.

Acute Disease↗