The ketogenic diet compensates for AGC1 deficiency and improves myelination.

The brain aspartate-glutamate carrier (AGC1) is specifically expressed in neurons, where it transports aspartate from the mitochondria to the cytosol, and plays a role in transfer of nicotinamide adenine dinucleotide (NADH)-reducing equivalents into the mitochondria as a part of the malate-aspartate shuttle. Deficient function of AGC1 underlies an inborn error of metabolism that presents with severe hypotonia, arrested psychomotor development, and seizures from a few months of age. In AGC1 deficiency, there is secondary hypomyelination due to lack of N-acetylaspartate (NAA), which is normally generated by acetylation of aspartate in the neuron and required for fatty acid synthesis by the adjacent oligodendrocyte.

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.

A new mechanism for formation of 7-ketocholesterol was recently described involving cytochrome P-450 (CYP)7A1-catalyzed conversion of 7-dehydrocholesterol into 7-ketocholesterol with cholesterol-7,8-epoxide as a side product. Some patients with cerebrotendinous xanthomatosis (CTX) and all patients with Smith-Lemli-Opitz syndrome (SLO) have markedly increased levels of 7-dehydrocholesterol in plasma and tissues. In addition, the former patients have markedly upregulated CYP7A1.

Prolonged grievers: a qualitative evaluation of a support group intervention.

Objective: The aim of this project was to study prolonged grievers psychosocial processes and experience during participation in a group intervention and 6-8 weeks after discontinuation. The intervention in this study was a group therapy with the aim of getting in contact with their pain and loss and confronting and working with this loss.

Methods: Data was collected by using diaries and tape-recorded interviews, analyzed with grounded theory.

Development of mass transport resistance in poly(lactide-co-glycolide) films and particles--a mechanistic study.

Poly(D,L-lactide-co-glycolide) (PLG) is the most frequently used biodegradable polymer in the controlled release of an encapsulated drug. The purpose of this work was to explain the surprisingly slow diffusion through this polymer, and locate the major source of mass transport resistance. Diffusion of human growth hormone (hGH) and glucose through PLG films was undetectable (using a diffusion cell), although the degraded polymer contained several times more water than polymer mass.

AGC1 deficiency associated with global cerebral hypomyelination.

The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein. Functional analysis of the mutant AGC1 protein showed abolished activity.

Latanoprost and pigmentation.

Latanoprost is a prostaglandin analogue with well-established efficacy in the treatment of open-angle glaucoma and ocular hypertension. Once-daily administration of this drug for up to 5 years is generally well tolerated both locally and systemically. While most reported side effects have been classified as mild in intensity, an increase in iris, eyelash, and periocular pigmentation has been associated with prostaglandin analogue use in some patients.

A Swedish cost-effectiveness analysis of community-based Chlamydia trachomatis PCR testing of postal urine specimens obtained at home.

Aims: A study was undertaken to assess the cost-effectiveness of identifying and treating asymptomatic carriers of Chlamydia trachomatis when using community-based testing of urine specimens obtained at home and mailed to a central laboratory.

Methods: A total of 100 males and 100 females aged 20-24 living in Umeå were randomly sampled from the population registry. A societal cost-effective analysis was carried out, based on screening and medical care costs in Sweden.