Ketogenic Diet in Refractory Childhood Epilepsy:Starting With a Liquid Formulation in an Outpatient Setting

Background: Ketogenic diet in children with epilepsy has a considerable impact on daily life and is usually adopted for at least 3 months. Our aim was to evaluate whether the introduction of an all-liquid ketogenic diet in an outpatient setting is feasible, and if an earlier assessment of its efficacy can be achieved. Methods: The authors conducted a prospective, observational study in a consecutive group of children with refractory epilepsy aged 2 to 14 years indicated for ketogenic diet. Ketogenic diet was started as an all-liquid formulation of the classical ketogenic diet, KetoCal 4:1 LQ, taken orally or by tube. After 6 weeks, the liquid diet was converted into solid meals. The primary outcome parameter was time-to-response (>50% seizure reduction). Secondary outcome parameters were time to achieve stable ketosis, the number of children showing a positive response, and the retention rate at 26 weeks. Results: Sixteen children were included. Four of them responded well with respect to seizure frequency, the median time-to-response was 14 days (range 7-28 days). The mean time to achieve stable ketosis was 7 days. The retention rate at 26 weeks was 50%. Of the 8 children who started this protocol orally fed, 6 completed it without requiring a nasogastric tube. Conclusions: Introduction of ketogenic diet with a liquid formulation can be accomplished in orally fed children without major complications. It allowed for fast and stable ketosis

Single amino acid supplementation in aminoacidopathies:a systematic review

Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment. Such treatment includes severe natural protein restriction, combined with protein substitution with all amino acids except the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect. For some aminoacidopathies, supplementation of one or two amino acids, that have not become essential by the enzymatic defect, has been suggested. This so-called single amino acid supplementation can serve different treatment objectives, but evidence is limited. The aim of the present article is to provide a systematic review on the reasons for applications of single amino acid supplementation in aminoacidopathies treated with natural protein restriction and synthetic amino acid mixtures

Determination of Stromal Signatures in Breast Carcinoma

Many soft tissue tumors recapitulate features of normal connective tissue. We hypothesize that different types of fibroblastic tumors are representative of different populations of fibroblastic cells or different activation states of these cells. We examined two tumors with fibroblastic features, solitary fibrous tumor (SFT) and desmoid-type fibromatosis (DTF), by DNA microarray analysis and found that they have very different expression profiles, including significant differences in their patterns of expression of extracellular matrix genes and growth factors. Using immunohistochemistry and in situ hybridization on a tissue microarray, we found that genes specific for these two tumors have mutually specific expression in the stroma of nonneoplastic tissues. We defined a set of 786 gene spots whose pattern of expression distinguishes SFT from DTF. In an analysis of DNA microarray gene expression data from 295 previously published breast carcinomas, we found that expression of this gene set defined two groups of breast carcinomas with significant differences in overall survival. One of the groups had a favorable outcome and was defined by the expression of DTF genes. The other group of tumors had a poor prognosis and showed variable expression of genes enriched for SFT type. Our findings suggest that the host stromal response varies significantly among carcinomas and that gene expression patterns characteristic of soft tissue tumors can be used to discover new markers for normal connective tissue cells

Discovery of molecular subtypes in leiomyosarcoma through integrative molecular profiling.

Leiomyosarcoma (LMS) is a soft tissue tumor with a significant degree of morphologic and molecular heterogeneity. We used integrative molecular profiling to discover and characterize molecular subtypes of LMS. Gene expression profiling was performed on 51 LMS samples. Unsupervised clustering showed three reproducible LMS clusters. Array comparative genomic hybridization (aCGH) was performed on 20 LMS samples and showed that the molecular subtypes defined by gene expression showed distinct genomic changes. Tumors from the muscle-enriched cluster showed significantly increased copy number changes (P=0.04). A majority of the muscle-enriched cases showed loss at 16q24, which contains Fanconi anemia, complementation group A, known to have an important role in DNA repair, and loss at 1p36, which contains PRDM16, of which loss promotes muscle differentiation. Immunohistochemistry (IHC) was performed on LMS tissue microarrays (n=377) for five markers with high levels of messenger RNA in the muscle-enriched cluster (ACTG2, CASQ2, SLMAP, CFL2 and MYLK) and showed significantly correlated expression of the five proteins (all pairwise P<0.005). Expression of the five markers was associated with improved disease-specific survival in a multivariate Cox regression analysis (P<0.04). In this analysis that combined gene expression profiling, aCGH and IHC, we characterized distinct molecular LMS subtypes, provided insight into their pathogenesis, and identified prognostic biomarkers

Effect of lubricants and sliding conditions on the tribo-performance of SiO2/epoxy composites

The influence of solid lubricants, normal load, sliding speed and water environment on the tribo-performance of solid lubricant-containing SiO2-epoxy composites is investigated. 10 to 15 wt% PTFE concentration yields a low coefficient of friction (CoF) and low wear rate under 60 N load. With increasing PTFE concentration in the composites, the load capacity decreases. Graphite exhibits worse friction and wear performance than PTFE under dry sliding condition, i.e. the CoF increases with a decreasing load in ball-on-disc. A higher concentration of PTFE-containing tribolayer on the worn composite surface is found under a higher load. The CoF and ball wear rate increase with increasing sliding speed under dry sliding, which is accompanied with an increase of the surface temperature of the composite. A high relative humidity is advantageous for a low friction due to adsorbed water molecules that lubricate the sliding couple. Water lubrication leads to a lower wear rate of the PTFE and graphite filled composites, whereas it gives rise to a higher wear rate of the Al2O3 ball due to the lack of protection of the transfer films

Long-Term Outcomes of Standard Endovascular Aneurysm Repair in Patients With Severe Neck Angulation

Objective: Severe neck angulation is associated with complications after endovascular aneurysm repair (EVAR). Newer endografts may overcome this limitation, but the literature lacks long-term results. We studied the long-term outcomes of EVAR in patients with severe neck angulation. Methods: A retrospective case-control study of a prospective multicenter database was performed. All measurements were made with dedicated software with center lumen line reconstruction. A study group including patients with neck length >15 mm, infrarenal angle (β) >75 degrees or suprarenal angle (α) >60 degrees, and neck length 10 to 15 mm with β >60 degrees or α >45 degrees was compared with a control group matched for demographics and other morphologic neck features. The primary end point was type IA endoleak (EL1A). Secondary end points were freedom from neck-related secondary interventions, primary clinical success, and overall survival. Results: Forty-five patients were included in the angulated neck group and compared with 65 matched patients. Median follow-up was 7.4 years (interquartile range, 4.8-8.5 years). In the angulated neck group, mean α was 51.4 degrees (±21.1 degrees) and the mean β was 80.8 degrees (±15.6 degrees); in the nonangulated group, these were 17.9 degrees (±17.0 degrees) and 35.4 degrees (±20.0 degrees), respectively. At 7 years, five patients in the angulated neck group and two nonangulated patients developed EL1A, yielding a freedom from EL1A of 86.1% (n = 14; standard error [SE], 0.069) and 96.6% (n = 34; SE, 0.023), respectively (P = .056). After exclusion of a patient who developed an EL1A secondary to an endograft infection, this difference was significant: 86.1% (n = 14; SE, 0.069) in the angulated neck group and 98.2% (n = 34; SE, 0.018) in the nonangulated group (P = .016). At 7 years, freedom from neck-related secondary interventions was 91.7% (n = 14; SE, 0.059) and 91.6% (n = 29; SE, 0.029), respectively. The 7-year primary clinical success estimates were 41.2% (n = 11; SE, 0.085) and 56.6% (n = 20; SE, 0.072) for the angulated neck and nonangulated groups, respectively (P = .12). The 7-year survival rates were 44.3% (n = 18; SE, 0.076) vs 66.7% (n = 42; SE, 0.059) for the angulated neck and nonangulated groups, respectively (P = .25). Device integrity failure was not observed. Conclusions: Despite satisfactory results early and in the midterm, a higher rate of EL1A was identified among patients with severely angulated necks in the long term. However, mortality was not affected by this difference. These findings suggest that EVAR should be used judiciously in patients with extreme angulation of the proximal neck and highlight the need for close follow-up of EVAR, especially in the long term and in patients treated outside instructions for use.info:eu-repo/semantics/publishedVersio

Length-dependent translocation of polymers through nanochannels

We consider the flow-driven translocation of single polymer chains through nanochannels. Using analytical calculations based on the de Gennes blob model and mesoscopic numerical simulations, we estimate the threshold flux for the translocation of chains of different number of monomers. The translocation of the chains is controlled by the competition between entropic and hydrodynamic effects, which set a critical penetration length for the chain before it can translocate through the channel. We demonstrate that the polymers show two different translocation regimes depending on how their length under confinement compares to the critical penetration length. For polymer chains longer than the threshold, the translocation process is insensitive to the number of monomers in the chain as predicted in Sakaue {\it et al.}, {\it Euro. Phys. Lett.}, {\bf 72} 83 (2005). However, for chains shorter than the critical length we show that the translocation process is strongly dependent on the length of the chain. We discuss the possible relevance of our results to biological transport.Comment: To appear in Soft Matter. 10 pages 9 Figure

Using CT colonography as a triage technique after a positive faecal occult blood test in colorectal cancer screening

Item does not contain fulltextOBJECTIVE: The purpose of this study was to evaluate the effectiveness of CT colonography (CTC) as a triage technique in faecal occult blood test (FOBT)-positive screening participants. METHODS: Consecutive guaiac (G-FOBT) and immunochemical (I-FOBT) FOBT-positive patients scheduled for colonoscopy underwent CTC with iodine tagging bowel preparation. Each CTC was read independently by two experienced observers. Per patient sensitivity, specificity and positive and negative predictive values (PPV and NPV) were calculated based on double reading with different CTC cut-off lesion sizes using segmental unblinded colonoscopy as the reference standard. The acceptability of the technique to patients was evaluated with questionnaires. RESULTS: 302 FOBT-positive patients were included (54 G-FOBT and 248 I-FOBT). 22 FOBT-positive patients (7%) had a colorectal carcinoma and 211 (70%) had a lesion >or=6 mm. Participants considered colonoscopy more burdensome than CTC (por=6 mm. The PPV of CTC was 87% (95% CI 80% to 93%) and NPV 77% (95% CI 69% to 85%). Using CTC as a triage technique in 100 FOBT-positive patients would mean that colonoscopy could be prevented in 28 patients while missing >or=10 mm lesions in 2 patients. CONCLUSION: CTC with limited bowel preparation has reasonable predictive values in an FOBT-positive population and a higher acceptability to patients than colonoscopy. However, due to the high prevalence of clinically relevant lesions in FOBT-positive patients, CTC is unlikely to be an efficient triage technique in a first round FOBT population screening programme