Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Heterozygous variants in SLC6A1, encoding the GAT-1 GABA transporter, are associated with seizures, developmental delay, and autism. The majority of affected individuals carry missense variants, many of which are recurrent germline de novo mutations, raising the possibility of gain-of-function or dominant-negative effects. To understand the functional consequences, we performed an in vitro GABA uptake assay for 213 unique variants, including 24 control variants.

Prolactin and Estrogen Levels in Postmenopausal Women Receiving Aripiprazole Augmentation Treatment for Depression.

Background: Antipsychotic drugs are well established to alter serum prolactin levels, often resulting in adverse effects including amenorrhea, galactorrhea, osteoporosis, and loss of libido. There is growing preclinical evidence that prolactin-elevating drugs can instigate the progression of precancerous lesions to breast cancer and that genes activated by prolactin are associated with the development and proliferation of breast cancer. Current guides advise a cautious approach (weighing risks and benefits) to the administration of prolactin-elevating antipsychotic drugs in women with a previously detected breast cancer.

Cell-Specific Transcriptional Profiling of Ciliated Sensory Neurons Reveals Regulators of Behavior and Extracellular Vesicle Biogenesis.

Cilia and extracellular vesicles (EVs) are signaling organelles [1]. Cilia act as cellular sensory antennae, with defects resulting in human ciliopathies. Cilia both release and bind to EVs [1].

Parents' perceptions of pharmacists as providers of influenza vaccine to children.

Objective: To examine parents' experience with the process of obtaining the influenza vaccine and their perceptions about pharmacists providing influenza vaccination services to their children.

Design: Cross-sectional descriptive study.

Setting: Wisconsin between November 2011 and April 2012.

Forging a novel provider and payer partnership in Wisconsin to compensate pharmacists for quality-driven pharmacy and medication therapy management services.

Objective: To describe the Wisconsin Pharmacy Quality Collaborative (WPQC), a quality-based network of pharmacies and payers with the common goals of improving medication use and safety, reducing health care costs for payers and patients, and increasing professional recognition and compensation for pharmacist-provided services.

Setting: Wisconsin between 2006 and 2009.

Practice Description: Community (independent, chain, and health-system) pharmacies and private and public health care payers/purchasers with support from the McKesson Corporation.