Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately in 5% of sporadic ALS patients. In Norway, the contribution of genetic variants to ALS has not yet been studied. In light of the potential development of personalized medicine, knowledge of genetic causes of ALS in a population is becoming increasingly important. The present study provides clinical and genetic data on familial and sporadic ALS patients in a Norwegian population-based cohort. Methods: Blood samples and clinical information from ALS patients were obtained at all 17 neurological departments throughout Norway during a 2-year period. Genetic analysis of the samples involved expansion analysis of C9orf72 and exome sequencing targeting 30 known ALS-linked genes. The variants were classified using genotype-phenotype correlations and bioinformatics tools. Results: A total of 279 ALS patients were included in the study. Of these, 11.5% had one or several family members affected with ALS, whereas 88.5% had no known family history of ALS. A genetic cause of ALS was identified in 31 individuals (11.1%), among which 18 (58.1%) were familial and 13 (41.9%) were sporadic. The most common genetic cause was the C9orf72 expansion (6.8%), which was identified in 8 familial and 11 sporadic ALS patients. Pathogenic or likely pathogenic variants of SOD1 and TBK1 were identified in 10 familial and 2 sporadic cases. C9orf72 expansions dominated in patients from the Northern and Central regions, whereas SOD1 variants dominated in patients from the South-Eastern region. Conclusion: In the present study, we identified several pathogenic gene variants in both familial and sporadic ALS patients. Restricting genetic analysis to only familial cases would miss more than 40 percent of those with a disease-causing genetic variant, indicating the need for genetic analysis in sporadic cases as well.publishedVersio

Abdominal manifestations of urogenital schistosomiasis in girls : A school based cross-sectional pilot study in Ugu District, KwaZulu-Natal South Africa

Introduction: People in 77 different countries are infected with schistosomiasis. Ninety percent of these live in Africa and 300 million women and girls in Africa are at risk of getting infected. Female genital schistosomiasis is a poverty-related water-transmitted parasitic disease which may create gynaecological symptoms, contact bleeding, friable blood vessels and inflammation. Children have been found to have urinary manifestations such as dysuria, haematuria and increased urinary frequency. Up to 75 % of the women who excrete eggs from Schistosomiasis haematobium in the urine may also have eggs in the uterus, cervix, vagina or vulva. It has frequently been hypothesized that the granulomatous inflammation that occurs due to ova deposition in the genitals may be the cause of abdominal pain, lower back pain and dyspareunia. However, it is not known whether children have pain in the abdomen as a consequence of this disease. Our aim was to investigate whether abdominal pain could be a symptom of urogenital schistosomiasis in children. Materials and methods: This investigation was nested in a larger school based study and included 10-12 year old girls from 3 different primary schools in the Ugu district area. Abdominal palpations were performed in all girls who gave consent. The stool and urine were investigated for schistosomiasis and other helminths, urine dipsticks and bacterial cultures were performed. Results: There was no significant association between lower abdominal pain and infection with schistosomiasis (p=0.31) or with general abdominal pain (p=0.83). Conlusion: This pilot study did not show that schistosomiasis is associated with abdominal pain. Since there are many reasons for abdominal pain in children, abdominal pain is probably not a useful indicator for urogenital schistosomiasis in children

En til en visitt : Hvordan ivareta taushetsplikten ved legevisitten?

Ivaretakelsen av taushetsplikten kan være en utfordring i den daglige sykehuspraksisen, spesielt ved legevisitt på flermannsrom. Lovverket er imidlertid tydelig: Sensitiv pasientinformasjon skal ikke gis så uvedkomne kan få det med seg. Helsedirektoratets anbefaling er at legevisitt bør foregå på egne samtalerom. Hvordan kan man få til dette på en travel avdeling med begrenset med plass? Vi vil se på hvordan legevisitten gjennomføres på Gastrokirurgisk avd., Oslo universitetssykehus, Ullevål. Hva er dagens praksis, hvilke utfordringer har de, og hvilke tiltak kan settes inn for å drive en praksis i samsvar med lovverket og Helsedirektoratets anbefalinger? Vi konkluderer at den beste løsningen er å innføre én-til-én-visitter, da dette ivaretar pasientenes verdighet, pasienters rett og helesepersonellets plikter. I tillegg til at de rent juridiske krav oppfylles, kan man tenke seg at det bidrar positivt i form av mer fortrolig lege-pasient-samtale, legen kan anføre endringer på kurve og diktere fortløpende, hvilket kan gjøre legens arbeid mer effektivt og mindre utsatt for feil og glemsler. Likevel kan dette være en tidkrevende ordning, og det er viktig å vurdere dette opp mot de positive effektene

Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately in 5% of sporadic ALS patients. In Norway, the contribution of genetic variants to ALS has not yet been studied. In light of the potential development of personalized medicine, knowledge of genetic causes of ALS in a population is becoming increasingly important. The present study provides clinical and genetic data on familial and sporadic ALS patients in a Norwegian population-based cohort. Methods: Blood samples and clinical information from ALS patients were obtained at all 17 neurological departments throughout Norway during a 2-year period. Genetic analysis of the samples involved expansion analysis of C9orf72 and exome sequencing targeting 30 known ALS-linked genes. The variants were classified using genotype-phenotype correlations and bioinformatics tools. Results: A total of 279 ALS patients were included in the study. Of these, 11.5% had one or several family members affected with ALS, whereas 88.5% had no known family history of ALS. A genetic cause of ALS was identified in 31 individuals (11.1%), among which 18 (58.1%) were familial and 13 (41.9%) were sporadic. The most common genetic cause was the C9orf72 expansion (6.8%), which was identified in 8 familial and 11 sporadic ALS patients. Pathogenic or likely pathogenic variants of SOD1 and TBK1 were identified in 10 familial and 2 sporadic cases. C9orf72 expansions dominated in patients from the Northern and Central regions, whereas SOD1 variants dominated in patients from the South-Eastern region. Conclusion: In the present study, we identified several pathogenic gene variants in both familial and sporadic ALS patients. Restricting genetic analysis to only familial cases would miss more than 40 percent of those with a disease-causing genetic variant, indicating the need for genetic analysis in sporadic cases as well