Machine learning in schizophrenia genomics, a case-control study using 5,090 exomes.

Our hypothesis is that machine learning (ML) analysis of whole exome sequencing (WES) data can be used to identify individuals at high risk for schizophrenia (SCZ). This study applies ML to WES data from 2,545 individuals with SCZ and 2,545 unaffected individuals, accessed via the database of genotypes and phenotypes (dbGaP). Single nucleotide variants and small insertions and deletions were annotated by ANNOVAR using the reference genome hg19/GRCh37.

Prevalence of four Mendelian disorders associated with autism in 2392 affected families.

Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research.

Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.

A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM.

Severe eczema vaccinatum in a household contact of a smallpox vaccinee.

Background: We report the first confirmed case of eczema vaccinatum in the United States related to smallpox vaccination since routine vaccination was discontinued in 1972. A 28-month-old child with refractory atopic dermatitis developed eczema vaccinatum after exposure to his father, a member of the US military who had recently received smallpox vaccine. The father had a history of inactive eczema but reportedly reacted normally to the vaccine.

Transmission of vaccinia virus and rationale for measures for prevention.

Currently, health care workers (HCWs) in the United States are being vaccinated against smallpox, and there is a possibility that this will be expanded to a more widespread vaccination program. Inadvertent transmission of vaccinia virus to patients with illnesses that are contraindications to vaccination is theoretically possible. Vaccinia virus is shed from the vaccination lesion of healthy primary vaccinees from approximately the third day to the end of the third week after vaccination; transmission of vaccinia virus is rare but does occur.

Smallpox vaccination: a review, part II. Adverse events.

Smallpox vaccination of health care workers, military personnel, and some first responders has begun in the United States in 2002-2003 as one aspect of biopreparedness. Full understanding of the spectrum of adverse events and of their cause, frequency, identification, prevention, and treatment is imperative. This article describes known and suspected adverse events occurring after smallpox vaccination.

Smallpox vaccination: a review, part I. Background, vaccination technique, normal vaccination and revaccination, and expected normal reactions.

Because smallpox could be a factor in bioterrorism, the United States has provided guidelines for smallpox vaccination of certain members of the population, including health care workers and first responders, as well as military personnel. A plan for more extensive vaccination, if it is needed in the event of a bioterrorist attack, is being developed under the aegis of the Centers for Disease Control and Prevention. The characteristics of smallpox vaccine, the technique of administration, and the expected reactions to primary vaccination and revaccination are outlined in this article.

The Millennium in infectious diseases: focus on the last Century 1900-2000.

Among the myriad remarkable changes in the last thousand years has been the evolution of our understanding and management of infectious diseases. To encapsulate a millennium of change is a daunting task, because the progress that has been made has been monumental in scope and breadth, with individual achievments of immense proportions. Hence, I have chosen to look at a snapshot of the last century with a focus on the years 1900 and 2000, with a brief analysis of the changes that have accounted for the obvious differences in the two eras.