Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While knockout mice die with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system.

Mapping the Transcriptome Underpinning Acute Corticosteroid Action within the Cortical Collecting Duct.

Key Points: We report the transcriptomes associated with acute corticosteroid regulation of ENaC activity in polarized mCCD collecting duct cells. Nine genes were regulated by aldosterone (ALDO), 0 with corticosterone alone, and 151 with corticosterone when 11βHSD2 activity was inhibited. We validated three novel ALDO-induced genes, , , and , in primary cells isolated from a novel principal cell reporter mouse.

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Purpose: Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.

Methods: Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort.

Chronic exposure to cigarette smoke extract upregulates nicotinic receptor binding in adult and adolescent rats.

Heavy smokers display increased radioligand binding of nicotinic acetylcholine receptors (nAChRs). This "upregulation" is thought to be a contributing factor to tobacco dependence. Although cigarette smoke contains thousands of constituents that can contribute to nicotine dependence, it is not well understood whether non-nicotine constituents contribute to nAChR upregulation.

The History of ERAS (Enhanced Recovery After Surgery) Society and its development in Latin America.

The shortage of hospital beds and changes in the payment model have promoted an increased attention and financing of programs that focus on perioperative care efficiency in. Latin America. In this paper, Enhanced Recovery After Surgery (ERAS) programs developed by the ERAS® Society will be discussed.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and subsequently gain-of-function. The associated clinical phenotype is broad and can include chronic mucocutaneous candidiasis (CMC) and/or combined immunodeficiency (CID). We report a case of CMC/CID in a 10-year-old boy due to a novel mutation in the small ubiquitin molecule (SUMO) consensus site at the C-terminal region of STAT1 leading to gain-of-function by impaired sumoylation.

Textural and geochemical constraints on andesitic plug emplacement prior to the 2004-2010 vulcanian explosions at Galeras volcano, Colombia.

Hazardous sequences of vulcanian explosions are thought to result from the repeated emplacement and destruction of degassed, highly crystalline magma plugs in the shallow conduit of arc volcanoes. The processes governing the timing and magnitude of these explosions are thought to be related to magma ascent rate and efficiency of degassing and crystallisation. We study a rare suite of time-constrained ballistic bombs from the 2004-2010 period of activity of Galeras volcano to reconstruct magma plug architecture prior to six individual vulcanian explosions.

Dose-Volume Histogram Analysis of Stereotactic Body Radiotherapy Treatment of Pancreatic Cancer: A Focus on Duodenal Dose Constraints.

Pancreatic carcinoma is an aggressive disease and radiotherapy treatment delivery to the primary tumor is constrained by the anatomical close location of the duodenum, stomach, and small bowel. Duodenal dose tolerance for radiosurgery in 2-5 fractions has been largely unknown. The literature was surveyed for quantitative models of risk in 1-5 fractions and we analyzed our own patient population of 44 patients with unresectable pancreatic tumors who received 3 or 5 fractions of stereotactic body radiotherapy (SBRT) between March 2009 and March 2013.

Nicotine and the adolescent brain.

Adolescence encompasses a sensitive developmental period of enhanced clinical vulnerability to nicotine, tobacco, and e-cigarettes. While there are sociocultural influences, data at preclinical and clinical levels indicate that this adolescent sensitivity has strong neurobiological underpinnings. Although definitions of adolescence vary, the hallmark of this period is a profound reorganization of brain regions necessary for mature cognitive and executive function, working memory, reward processing, emotional regulation, and motivated behavior.

Reinforcing and neural activating effects of norharmane, a non-nicotine tobacco constituent, alone and in combination with nicotine.

Tobacco use is the leading cause of preventable death. Although the health risks are well known, cessation rates remain low. Whereas behavioral and neuroanatomical studies on tobacco addiction conventionally use nicotine, there is evidence that other constituents, such as monoamine oxidase inhibitors, may be important factors for modeling smoking.