Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

Susceptibility to herpes simplex virus type 1 (HSV-1) encephalitis (HSE-1) in otherwise healthy individuals, in the course of primary infection, can be caused by single-gene inborn errors of Toll-like receptor 3 (TLR3) dependent, interferon (IFN)-alpha/beta-mediated immunity,(1,2) or by single-gene inborn errors of snoRNA31.(3) These variations underlie infections of the forebrain, whereas mutations of DBR1 underlie infections of the brainstem.(3) HSV-2 encephalitis (HSE-2) is typically observed in neonates, albeit also rarely in older children and adults.(4) Its manifestations include altered level of consciousness, cranial neuropathies or more extensive brainstem encephalitis, hemiparesis, hemisensory loss, and permanent neurologic deficit.(4) MRI in HSE-2 may show normal findings, nonspecific white matter, orbitofrontal, mesial temporal lobe, or brainstem lesions. Inborn errors of immunity underlying HSE-2 have not been described.Non peer reviewe

Neurocognitive impairment, employment, and social status in radiotherapy-treated adult survivors of childhood brain tumors

Background. Little is known of the cognitive functions, employment, and social status in adult survivors of childhood brain tumor (BT). We aimed to determine the long-term neurocognitive profile of radiotherapy-treated adult survivors of childhood BT and the relationship between cognitive functions and employment and social status. Methods. Neurocognitive profiles of survivors were assessed in a Finnish national cohort of 71 radiotherapy-treated survivors of childhood BT (median follow-up time: 21 years [range: 5-33 years]) using a cross-sectional design. Neurocognitive outcomes were compared to control (n = 45) and normative values. Tumor- and treatment-related data were collected from the patient files. Information on employment and social status was gathered. Results. Survivors' (median age: 27 years [range: 16-43 years]) median verbal and performance intelligence quotient (IQ) was 90 (range: 49-121) and 87 (range: 43-119), respectively. The cognitive domains with the greatest impairment were executive functions (median z score, 3.5 SD [range: -25.0 to 1.3 SD]), and processing speed and attention (median z score, -2.5 SD [range: -24.9 to 0.5 SD]). Executive functions were associated with employment, educational level, living independently, having an intimate relationship, and having a driving license. Processing speed and attention were related to educational level, living independently, having an intimate relationship, and having a driving license. Performance IQ was associated with educational level and employment status. Working memory was associated with educational level and living independently. Conclusions. Radiotherapy-treated adult survivors of childhood BT experience significant neurocognitive impairment, which is associated with difficulties related to employment and social status.Peer reviewe

Neurocognitive impairment, employment, and social status in radiotherapy-treated adult survivors of childhood brain tumors

Background. Little is known of the cognitive functions, employment, and social status in adult survivors of childhood brain tumor (BT). We aimed to determine the long-term neurocognitive profile of radiotherapy-treated adult survivors of childhood BT and the relationship between cognitive functions and employment and social status.Methods. Neurocognitive profiles of survivors were assessed in a Finnish national cohort of 71 radiotherapy-treated survivors of childhood BT (median follow-up time: 21 years [range: 5-33 years]) using a cross-sectional design. Neurocognitive outcomes were compared to control (n = 45) and normative values. Tumor- and treatment-related data were collected from the patient files. Information on employment and social status was gathered.Results. Survivors' (median age: 27 years [range: 16-43 years]) median verbal and performance intelligence quotient (IQ) was 90 (range: 49-121) and 87 (range: 43-119), respectively. The cognitive domains with the greatest impairment were executive functions (median z score, 3.5 SD [range: -25.0 to 1.3 SD]), and processing speed and attention (median z score, -2.5 SD [range: -24.9 to 0.5 SD]). Executive functions were associated with employment, educational level, living independently, having an intimate relationship, and having a driving license. Processing speed and attention were related to educational level, living independently, having an intimate relationship, and having a driving license. Performance IQ was associated with educational level and employment status. Working memory was associated with educational level and living independently.Conclusions. Radiotherapy-treated adult survivors of childhood BT experience significant neurocognitive impairment, which is associated with difficulties related to employment and social status.</p

Alcohol misuse in relation to traumatic brain injury:the Northern Finland 1966 birth cohort study

Abstract Traumatic brain injury (TBI) is often the leading cause of death and the most common cause of permanent disability in children and young adults. The hospital admission rates as well as the incidence and mortality rates of TBI vary enormously in different countries and populations. Even though alcohol misuse is a well-known modifiable risk factor for TBI and other injuries, few studies have been carried out on drinking patterns in relation to TBI, alcohol's role in recurrent brain injuries as well as TBI in relation to alcohol use in children and adolescents. The Northern Finland 1966 Birth Cohort was used to study the epidemiology and recurrence of TBI as well as alcohol use by children with TBI by the age of 14 years and those who sustained TBI later in life. The role of parents' alcohol misuse on children's TBI was also studied. The incidence of TBI in the whole study population was 118/100 000 person-years (PY), and the pediatric incidence of TBI (children aged under 16 years) was 130/100 000 PY. Up to the age of 10 years, the occurrence of TBI did not differ by gender, but after that age, boys and men had a higher incidence compared to girls and women. Mortality from TBI in the whole study population was 14/100 000 PY. Parental alcohol misuse and male gender were significant risk factors for the occurrence of TBI in childhood. Drinking to intoxication at the age of 14 years was a more common habit of TBI subjects than controls, especially among girls. Frequent alcohol drinking and drunkenness reported at the age of 14 years as well as male gender were independent predictors of TBI later in life. An alcohol-related first TBI and urban place of birth were found to be significant risk factors for recurrent TBI. A significant positive correlation between first and recurrent TBIs with respect to alcohol involvement was observed. Alcohol drinking and parental alcohol misuse should be recognized among children and adolescents with acute TBI. Because alcohol drinking predicts the recurrence of TBI, a brief intervention focused on drinking habits is needed as an immediate preventive measure