Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.     

Reactions to the rape victim as a function of victim age

The present study investigated the effects of the age of a victim on social reactions to a rape incident. The findings indicated limited but reliable effects of age on the way respondents reacted to the rape episode. There was a greater tendency for the characteristics and the behavior of the victim to be viewed as factors in causing the rape when the victim was in the middle age ranges than when she was in the extreme age range (six-years-old or 76-years-old). Respondents also favored more severe punishment for the assailant when the victim was at the extremes of the age distribution.     

Cost consequences of induced abortion as an attributable risk for preterm birth and impact on informed consent

OBJECTIVE: To investigate the human and monetary cost consequences of preterm delivery as related to induced abortion (IA), with its impact on informed consent and medical malpractice. STUDY DESIGN: A review of the literature in English was performed to assess the effect of IA on preterm delivery rates from 24 to 31 6/7 weeks to assess the risk for preterm birth attributable to IA. After calculating preterm birth risk, the increased initial neonatal hospital costs and cerebral palsy (CP) risks related to IA were calculated. RESULTS: IA increased the early preterm delivery rate by 31.5%, with a yearly increase in initial neonatal hospital costs related to IA of > $1.2 billion. The yearly human cost includes 22,917 excess early preterm births (EPB) (< 32 weeks) and 1096 excess CP cases in very-low-birth-weight newborns, <1500 g. CONCLUSION: IA contributes to significantly increased neonatal health costs by causing 31.5% of EPB. Providers of obstetric care and abortion should be aware of the risk of preterm birth attributable to induced abortion, with its significant increase in initial neonatal hospital costs and CP cases.     

Three‐way parallel group independent component analysis: Fusion of spatial and spatiotemporal magnetic resonance imaging data

Advances in imaging acquisition techniques allow multiple imaging modalities to be collected from the same subject. Each individual modality offers limited yet unique views of the functional, structural, or dynamic temporal features of the brain. Multimodal fusion provides effective ways to leverage these complementary perspectives from multiple modalities. However, the majority of current multimodal fusion approaches involving functional magnetic resonance imaging (fMRI) are limited to 3D feature summaries that do not incorporate its rich temporal information. Thus, we propose a novel three‐way parallel group independent component analysis (pGICA) fusion method that incorporates the first‐level 4D fMRI data (temporal information included) by parallelizing group ICA into parallel ICA via a unified optimization framework. A new variability matrix was defined to capture subject‐wise functional variability and then link it to the mixing matrices of the other two modalities. Simulation results show that the three‐way pGICA provides highly accurate cross‐modality linkage estimation under both weakly and strongly correlated conditions, as well as comparable source estimation under different noise levels. Results using real brain imaging data identified one linked functional–structural–diffusion component associated to differences between schizophrenia and controls. This was replicated in an independent cohort, and the identified components were also correlated with major cognitive domains. Functional network connectivity revealed visual–subcortical and default mode‐cerebellum pairs that discriminate between schizophrenia and controls. Overall, both simulation and real data results support the use of three‐way pGICA to identify multimodal spatiotemporal links and to pursue the study of brain disorders under a single unifying multimodal framework.