No abstract

ABSTRACT:The purpose of this study was to investigate the aquaporin-4 (AQP4) gene in cases of sudden infant death syndrome (SIDS) and controls and to elucidate the hypothesis that a genetically determined disturbed water homeostasis in the brain is involved as a predisposing factor in SIDS. The single nucleotide polymorphisms (SNPs) rs2075575, rs4800773, rs162004, and rs3763043 in the AQP4 gene were investigated in 141 SIDS cases and 179 controls. For each SIDS case, a brain/body weight ratio was calculated. The study revealed an association between the T allele and the CT/TT genotypes of rs2075575 and SIDS (C versus T, p Ͻ 0.01; CC versus CT/TT, p ϭ 0.03). For the other three investigated SNPs, there were no differences in genotype frequencies between SIDS cases and controls. For the SNP rs2075575, it was also found an association between brain/body weight ratio and genotype in the SIDS cases aged 0.3-12 wk (p ϭ 0.014, median ratio CC 10.6, CT/TT 12.1). In conclusion, this study indicates that rs2075575 may be of significance as a predisposing factor for SIDS, and that the CT/TT genotypes are associated with an increased brain/body weight ratio in infants dying from SIDS during the vulnerable period from birth up to 3 mo of age. (Pediatr Res 68: 48-51, 2010) S udden infant death syndrome (SIDS) is the sudden unexpected death in an infant, which remains unexplained after a thorough investigation of the history, the circumstances of death, and an adequate autopsy (1). Knowledge of risk factors such as prone sleeping position, parental smoking, and overheating has dramatically reduced the occurrence (2-4). However, a large proportion of infants who succumb to SIDS most likely have an underlying genetic predisposition, and it has been indicated that genes involved in the development of the brain and in the serotonergic network is of importance (5-10). According to our version of the three-hit model for SIDS, the fatal triangle (11), this genetic predisposition constitute one corner. The two others are a vulnerable developmental stage of the immune system and the CNS, and environmental risk factors, such as prone sleeping, maternal smoking, or a slight infection. If all factors coincide, a vicious circle is triggered, eventually leading to severe hypoxia, coma, and death (12).Several studies report findings of increased brain weight and edema in SIDS (13-15). Aranda et al. (13) investigated the brain weight of 208 SIDS cases and found that for term infants the brains were heavier than reference values, when matched by age and body length, which suggests that the enlarged brains were present from birth rather than a result of disproportional postnatal growth. The finding of increased brain weight in SIDS is confirmed by Kadhim et al. (13), who speculates that the excessive brain weight might reflect abnormal cerebral development and could be detrimental to vital neural control.One might speculate that the enlarged brain seen in some SIDS victims are due to a disturbance of the development of the water homeostasis in...

During a 2-week period, we have encountered five cases presenting with the combination of cerebral venous thrombosis (CVT), intracerebral hemorrhage and thrombocytopenia. A clinical hallmark was the rapid and severe progression of disease in spite of maximum treatment efforts, resulting in fatal outcome in for 4 out of 5 patients. All cases had received ChAdOx1 nCov-19 vaccine 1–2 weeks earlier and developed a characteristic syndrome thereafter. The rapid progressive clinical course and high fatality rate of CVT in combination with thrombocytopenia in such a cluster and in otherwise healthy adults is a recent phenomenon. Cerebral autopsy findings were those of venous hemorrhagic infarctions and thrombi in dural venous sinuses, including thrombus material apparently rich in thrombocytes, leukocytes and fibrin. Vessel walls were free of inflammation. Extra-cerebral manifestations included leech-like thrombi in large veins, fibrin clots in small venules and scattered hemorrhages on skin and membranes. CVT with thrombocytopenia after adenovirus vectored COVID-19 vaccination is a new clinical syndrome that needs to be recognized by clinicians, is challenging to treat and seems associated with a high mortality rate.

Objective: Motor vehicle collisions (MVCs) are a leading cause of death and acute disability among young adults worldwide. We performed a prospective study of young drivers involved in severe MVCs, investigating the critical events leading up to a collision with an emphasis on driver-related factors and collision culpability.Methods: A study was conducted in southeastern Norway of all drivers younger than 25 years who were involved in high-energy MVCs resulting in immediate hospitalization during 2013-2016. Collision investigators evaluated the exterior and interior of the motor vehicle (MV) within 24 h. Complementary information was obtained from interviews of collision victims, ambulance personnel and witnesses, from police reports, and medical records.Results: There were 145 young drivers included during a 3-year study period, representing an estimated incidence of 29 per 100,000 drivers with registered driving licenses. Ninety-two percent (133/145) were considered culpable of initiating the MVC, and only 2% of the critical factors preceding the collision were not related to the driver. There were 74% (108/145) males, the median MV age was 14 years, and 86% (125/145) of the MVs were passenger cars. The MVCs predominantly occurred on rural roads (90%, 130/145). Among the culpable drivers, speeding behavior was the main predisposing factor in 80% (106/133) of the collisions. Driving at excessive speed was associated with single-vehicle collisions (87%, 74/85) and the presence of passengers (89%, 56/63). Compared to nonculpable drivers, culpable drivers were more often younger than 21 years (66% vs 33%, p = 0.031), had obtained their license less than 2 years previously (68% vs 20%, p = 0.004), and were more likely to have been drinking or using drugs (27% vs 0%, p = 0.039). The overall rate of seatbelt use was 79% (114/145). Conclusion:The vast majority of injury-causing MVCs involving young drivers are initiated by those drivers. These incidents are characterized by male drivers with little driving experience who are operating old cars on rural roads at excessive speeds. Driving under the influence of alcohol or drugs is also not uncommon. These issues should be targeted in future preventive measures.