Determining the neurocognitive profile of children with tuberous sclerosis complex within the Western Cape region of South Africa.

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with a wide spectrum of cognitive impairments that can often result in impaired academic, social and adaptive functioning. However, studies investigating TSC have found it difficult to determine whether TSC is associated with a distinct cognitive phenotype and more specifically which aspects of functioning are impaired. Furthermore, children with TSC living in low-income and middle-income countries, like South Africa, experience additional burdens due to low socio-economic status, high mortality rates and poor access to health care and education. Hence, the clinical population of South Africa may vary considerably from those populations from high-income countries discussed in the literature. METHODS: A comprehensive neuropsychological battery composed of internationally recognised measures examining attention, working memory, language comprehension, learning and memory, areas of executive function and general intellectual functioning was administered to 17 children clinically diagnosed with TSC. RESULTS: The exploration of descriptive data indicated generalised cognitive difficulties in most cognitive domains, aside from memory. With only two participants performing in the average to above-average ranges, the rest of the sample showed poor verbal comprehension, perceptual reasoning, working memory, processing speed, disinhibition, and problems with spatial planning, problem solving, frustration tolerance, set shifting and maintaining a set of rules. Furthermore, correlational findings indicated several associations between socio-demographic and cognitive variables. CONCLUSIONS: Importantly, this is the first study to comprehensively examine multiple domains of neurocognitive functioning in a low-resource setting sample of children with TSC. Current study findings showed that children with TSC have generalised impairments across several cognitive domains, rather than domain-specific impairments. Therefore, although examining individual aspects of cognition, such as those found in previous literature, is important, this approach is limiting. With a comprehensive assessment, including understanding the associations between domains, appropriate and directed support can be provided to ensure all aspects of development are addressed and considered.

Tuberous sclerosis complex in the Western Cape, South Africa: The clinical presentation features.

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures. Seven (18%) children had epileptic spasms. Skin manifestations led to a diagnosis in 13 (33%) and neuroimaging in 22 (56%) children. Antenatal screening detected cardiac rhabdomyomas in 3 children. One child had a positive family history. In the paediatric service, TSC diagnosis usually followed neuroimaging, whereas at the neurology service skin manifestations indicated TSC. In conclusion, most children with TSC presented as emergency cases with seizures. Health practitioner awareness of the common TSC clinical signs was lacking, with the diagnosis often delayed.

Quercinol, an anti-inflammatory chromene from the wood-rotting fungus Daedalea quercina (Oak Mazegill).

The fungus Daedalea quercina (oak mazegill) was examined for its capability of producing antioxidative and anti-inflammatory compounds. Bioactivity guided fractionation of the extract from a mycelial culture led to the isolation of quercinol, which was identified as (-)-(2S)-2-hydroxymethyl-2-methyl-6-hydroxychromene 1 by NMR and X-ray analyses. The cryptic hydroquinone 1 shows a broad anti-inflammatory activity against cyclooxygenase 2 (COX-2), xanthine oxidase (XO), and horseradish peroxidase (HRP) at micromolar concentrations.

An European survey of structure and organisation of nutrition support teams in Germany, Austria and Switzerland.

BACKGROUND & AIMS: Nutritional support teams (NST) have been demonstrated to be an excellent mechanism for identifying patients in need of nutrition support, improving the efficacy of nutrition support in a variety of hospital environments. Focus of this study was the investigation of function, structure and organisation of NST in Germany (D), Austria (A) and Switzerland (CH). METHODS: Prospective investigation of the function, structure and organisation of NST in D, A and CH, using standardised questionnaires. RESULTS: From a total of 3071 hospitals in D, A and CH, NST have been established at 98 hospitals (3.2%). Their main activities were creating nutritional regimes (100%), education (87%) and monitoring nutrition therapy (92%). In general, the NST are not independently operating units but are affiliated to a special discipline. Seventy-one per cent of the physicians, 40% of the nurses and 69% of the dieticians in the NST held a nutrition-specific additional qualification. A total of 12% of the physicians, 37% of the nurses and 46% of the dieticians are exclusively responsible for the NST. A reduction of complications (88%) and cost saving (98%) were indicated since their establishment. The NST received in 32% funding support. CONCLUSION: In D, A, CH neither a uniform nor comprehensive patient care by NST existed in 2004. Standards of practice, development of guidelines in clinical nutrition and better documentation in NSTs are necessary. Special efforts should be aimed at education of NST members and financing of teams.

[Penicillium expansum, a resident fungal strain of the orbital complex Mir, producing xanthocillin X and questiomycin A]. / Grib Penicillium expansum--shtamm-rezident orbital'nogo komplexa "MIR"--produtsent ksantotsillina X i kvestiomitsina A.

It was demonstrated that the fungus Penicillium expansum 2-7, a resident strain of the orbital complex Mir, which became dominating at the end of a long-term space flight, formed biologically active secondary metabolites (antibiotics). Using physicochemical methods, these metabolites were identified as xanthocyllin X and questiomycin A. Time courses of their biosyntheses during growth and development of the producer culture were studied. Addition of zinc to the culture medium affected both the growth of the culture and the biosyntheses of the antibiotics. The concentrations of zinc in the medium, optimum for xanthocyllin X and questiomycin A production, amount to 0.3 and 3.0 mg/l, respectively.

High-dose intravenous vitamin C is not associated with an increase of pro-oxidative biomarkers.

OBJECTIVE: High-dose vitamin C therapy might mediate beneficial clinical effects by counteracting reactive oxygen species. However, concerns are raised whether this approach might provoke diametrical (ie pro-oxidative) effects. The objective was to determine ascorbyl free radical (AFR) concentrations and potential variables of pro-oxidative damage. DESIGN: Crossover study; six healthy males received daily infusions of 750 or 7500 mg vitamin C for six consecutive days. Fasting concentrations of vitamin C and AFR were determined daily. On day 1, concentrations of vitamin C and AFR were measured at 0.25, 0.5, 1, 2, 4 and 8 h post infusion. Plasma concentrations of thiobarbituric acid-reactive substances (TBARS), tocopherol and urine concentrations of 8-oxoguanosine were determined on days 1 and 6. RESULTS: Kinetic studies on day 1 showed that concentrations of vitamin C and AFR displayed parallel dose- and time-dependent kinetics and elimination was highly efficient. Vitamin C and AFR fasting concentrations on days 2-6 were slightly above the baseline, suggesting new, stable steady states. TBARS decreased in both groups, whereas tocopherol and 8-oxoguanosine concentrations remained unchanged. CONCLUSION: Kinetics of AFR largely depend on plasma vitamin C concentrations and AFR is eliminated efficiently. Our data do not support induction of pro-oxidative effects in healthy volunteers given intravenous high-dose vitamin C. SPONSORSHIP: Pascoe Pharmazeutische Präparate GmbH, Giessen, Germany.

Differences in ion-channel formation by ampullosporins B, C, D and semisynthetic desacetyltryptophanyl ampullosporin A.

Peptaibol-type ampullosporins B (2) and D (4) are capable of forming ion-conducting pores in planar lipid bilayer membrane prepared from soybean phosphatidylcholine in a similar manner as it was shown for ampullosporin A (1). However, the isomeric ampullosporin C (3) was required in 20-fold higher concentration to afford a comparable effect. In contrast to 1, 2, 3 and 4, the desacetyltryptophanyl ampullosporin A (5) failed to form ion channels. The results suggest that the sequence of amino acids especially at positions 8-10, the nitrogen-terminal acetyl residues and tryptophane are major factors determining ion-channel formation within bilayer membranes. The differences in membrane activities were comparable to the observed biological activities.

New homoserine lipids from Xerocomus langbianensis.

New diacylglycerotrimethyl homoserine lipids 1 (2 O,3 O-bislinolylglycero-4'-O-(N,N,N-trimethyl)homoserine) and 2 (2 O,3 O-linolyl-palmitylglycero-4'-O-(N,N,N-trimethyl)-homoserine) were isolated from the fruiting body of a Vietnamese species of Xerocomus langbianensis. The chemical structures were settled on the basis of mass spectrometry and NMR spectroscopy.

The effect of beta-carotene on the expression of interleukin-6 and heme oxygenase-1 in UV-irradiated human skin fibroblasts in vitro.

beta-Carotene is discussed as an anti-oxidant micronutrient and singlet oxygen quencher in human skin, protecting against UV light-induced damage. However, we recently demonstrated that beta-carotene has a pro-oxidant potential in cultured human skin fibroblasts because it enhances the UVA induction of heme oxygenase-1 (HO-1). Herein, we further show that beta-carotene also strongly promotes the UVA induction of pro-inflammatory interleukin-6 (IL-6) in skin fibroblasts in vitro. Singlet oxygen quencher sodium azide abrogated up-regulation of IL-6, and likewise also of HO-1. In UVB-irradiated cells, beta-carotene did not modulate levels of IL-6 and HO-1. The observed effects might be relevant for UV-induced inflammatory processes.

(-)-Terpestacin and L-tenuazonic acid, inducers of pigment and aerial mycelium formation by Fusarium culmorum JP 15.

Surface cultures of Fusarium culmorum JP15 were found to respond to extracts of other fungi by enhanced production of orange-red fusarubin pigments and formation of aerial mycelium. Two inducers from strain Ulocladium sp. HKI 0226, the new (-)-terpestacin (1) and L-tenuazonic acid (2), were isolated. 1 inhibited syncytium formation by cells infected with respiratory syncytial virus (RSV).