Spotlight on Schizophrenia

In this article, Dr. Rebekah Jakel of Duke University discusses schizophrenia, a serious and persistent mental illness that has instilled fear, curiosity, and reverence through the ages. This complex condition affects an individual’s grasp on reality, severely limiting the ability to live and work independently. The impact of the schizophrenia extends beyond the individual to families and communities. Schizophrenia is associated with increased morbidity and mortality as well as significant health care costs and resource utilization. The term “schizophrenia” likely encompasses a syndrome with various symptoms and signs that share a common feature of impairment in reality testing.

Current research aims to identify mechanisms to explain the diverse phenotypes observed and to identify and understand possible subtypes. Alterations in the mesolimbic dopaminergic pathways as well as changes in the prefrontal cortex are thought to play a role in pathology. Pharmacological treatments targeting these pathways are the primary intervention; however, research demonstrates the importance of psychosocial treatments in improving function and quality of life. Advances in neurobiology, brain imaging, and genetics have given us a window of understanding into the complexity of schizophrenia. This article aims to provide an understanding of current research into this complex condition.

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Spotlight on Holoprosencephaly

In this updated review of holoprosencephaly, Dr. Joseph Siebert of the University of Washington discusses basic diagnostic anatomical features, pathogenetic and etiologic factors, and genetic, epidemiologic, and other data essential to understanding this complex disorder. Research indicates that the diverse phenotypic variations may stem from a host of genetic mutations and is further suggestive of gene-environment interactions. In severe forms, the disease is lethal. The treatment of patients with less severe forms continues to be refined, but can be substantial.

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