Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childhood with neurological impairment, progressive sensorineural deafness, and dystonia in six boys of four unrelated families. The neurologic symptoms suggested the diagnosis of Mohr–Tranebjaerg syndrome, caused by mutations in the TIMM8A gene, previously known as DDP1, and located centromerically of BTK. Deafness dystonia peptide (DDP1) participates in neurological development and is a part of the mitochondrial protein import pathway. Mutation analysis of the BTK gene revealed gross deletions of different lengths in all patients, in one case extending approximately 196 kb, including the genes TIMM8A, TAF7L, and DRP2. The most prominent clinical findings of this contiguous deletion syndrome are the combination of immunodeficiency and sensorineural deafness, which were present in all affected boys. The severity of symptoms, however, did not correlate with the extent of the deletion.     

Successful management of mild atopic dermatitis in adults with probiotics and emollients

Atopic dermatitis is characterized by impaired skin and mucous membrane barrier function. Measures improving barrier integrity decrease the influence of environmental factors that might exacerbate inflammation. Ten adult patients with mild-to-moderate atopic dermatitis consumed for three months fermented with potent antioxidative probiotic, L. fermentum ME-3 (DSM 14241) goat milk 200 mg/day. A control group consisted of six patients, not supplemented by probiotic. All patients used emollients regularly. Skin iron levels, glutathione redox ratios (GSSG/GSH), diene conjugate (DC) amounts, blood glutathione status, oxidized low-density lipoprotein (oxLDL), and total antioxidativity was measured at the baseline and after three months. A significant decrease in skin iron levels, DC amounts, and glutathione redox ratio occurred in the probiotic-supplemented group compared to the control group (P < 0.05 for all indices). In the same group, blood levels of oxLDL decreased (p < 0.05), and GSH levels increased (P < 0.001) with concomitant improvement in the GSSG/GSH ratio. Blood antioxidativity markers also showed an improvement. The results of our study demonstrate that regular use of probiotics with antioxidative properties coupled with the use of lipid-containing emollients considerably decreases inflammation and concomitant oxidative stress in adult patients with mild-to-moderate atopic dermatitis. This effect was observed both in the skin and in the blood.     

A study of oxidation products of free polyunsaturated fatty acids in mechanically deboned meat

Preparation of mechanically deboned meat (MDM) enables a more economical use of animal products and reduction of the amount of biological wastes. On the other hand, enhanced lipid oxidation causes concerns about safety and quality of MDM. There is no information about the actual chemical structure and possible health impact of these oxidation products. The relatively low price of MDM may cause a temptation of adulteration of comminuted meat products with MDM. Until now, no good chemical marker for the presence of MDM is known. We have investigated the chemical composition of different MDMs by LC–tandem mass-spectrometry and identified a number of free fatty acid oxidation products (oxylipins). All the MDMs studied contained significantly higher amounts of free unsaturated fatty acids and oxylipins than the corresponding hand-deboned meats (HDMs). Their concentration generally yet remarkably increased during storage of the MDMs. The highest peaks at the MS base peak chromatogram of a MDM belong to 9,10,13-trihydroxy-11-octadecenoic acid (9,10,13-THODE), the main candidate for the chemical marker of MDM and an unresolvable mixture of 13-hydroxy-9,11-octadecadienoic (13-HODE) and 9-hydroxy-11,13-octadecadienoic (9-HODE) acid. In most of the oxidized MDM samples, 9,10-dihydroxy-12-octadecenoic acid (9,10-DiHOME; LTX-diol) was observed in concentrations that may give rise to some toxicological concern.