CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X‐linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase‐like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis‐targeted therapy have been developed. We subsequently chose to use the same pathogenesis‐based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis‐targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.

     

Graphene Synthesis Techniques and Environmental Applications

Graphene is fundamentally a two-dimensional material with extraordinary optical, thermal, mechanical, and electrical characteristics. It has a versatile surface chemistry and large surface area. It is a carbon nanomaterial, which comprises sp² hybridized carbon atoms placed in a hexagonal lattice with one-atom thickness, giving it a two-dimensional structure. A large number of synthesis techniques including epitaxial growth, liquid phase exfoliation, electrochemical exfoliation, mechanical exfoliation, and chemical vapor deposition are used for the synthesis of graphene. Graphene prepared using different techniques can have a number of benefits and deficiencies depending on its application. This study provides a summary of graphene preparation techniques and critically assesses the use of graphene, its derivates, and composites in environmental applications. These applications include the use of graphene as membrane material for the detoxication and purification of water, active material for gas sensing, heavy metal ions detection, and CO₂ conversion. Furthermore, a trend analysis of both synthesis techniques and environmental applications of graphene has been performed by extracting and analyzing Scopus data from the past ten years. Finally, conclusions and outlook are provided to address the residual challenges related to the synthesis of the material and its use for environmental applications.     

Nonlinear Analytical Procedure for Predicting Debonding of Laminate from Substrate Subjected to Monotonic or Cyclic Load

The bonding of steel/fiber-reinforced polymer (SRP/FRP) laminate strips to concrete/masonry elements has been found to be an effective and efficient technology for improving the elements’ strength and stiffness. However, premature laminate–substrate debonding is commonly observed in laboratory tests, which prevents the laminate from reaching its ultimate strength, and this creates uncertainty with respect to the level of strengthening that can be achieved. Therefore, for the safe and effective application of this technology, a close estimate of the debonding load is necessary. Towards this end, in this paper, a new, relatively simple, semi-analytic model is presented to determine the debonding load and the laminate stress and deformation, as well as the interfacial slip, for concrete substrates bonded to SRP/FRP and subjected to monotonic or cyclic loading. In the model, a bond-slip law with a linearly softening branch is combined with an elasto-plastic stress-strain relationship for SRP. The model results are compared with available experimental data from single-lap shear tests, with good agreement between them.     

Secondary biogenic amine deficiencies: genetic etiology,therapeutic interventions,and clinical effects

neurogenetics - Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that...     

Use of khat in lactating women: a pilot study on breast-milk secretion

Nor-pseudoephedrine, one of the active ingredients of khat (Catha edulis), was found to be excreted in breast-milk in several lactating women who were chewing the leaves of the shrub according to the local customs. The compound could be traced in the urine of one breast-fed infant. It is concluded that the use of khat during lactation should be discouraged until further research has clearly elucidated the potential health hazards.     

Caesarean scar endometriosis

Introduction  Caesarean section incidence is rising and caesarean scar endometriosis could be encountered more in the day to day clinical practice. Materials and methods  We present three cases of caesarean scar endometriosis which were managed in our unit with excision biopsy. Conclusions  Complete excision is both diagnostic and therapeutic. FNAC could be a tool to exclude malignancy and allows a quick diagnosis.     

Size-exclusion chromatography purification of high-titer vesicular stomatitis virus G glycoprotein-pseudotyped retrovectors for cell and gene therapy applications

Vesicular stomatitis virus G glycoprotein (VSV-G)-pseudotyped replication-defective retroviral particles are pantropic and amenable to concentration to high titer by ultracentrifugation. These features have allowed development of effective retroviral transduction protocols for stem cells in vitro as well as for tissue engineering in vivo. However, retroparticle ultracentrifugation protocols will also copellet cellular and subcellular debris released from retroviral producer cell lines during vector manufacture. We have analyzed concentrated vector preparations by chromatography and have found that a significant amount of genomic DNA released from producer cells coconcentrates with retroviral particles. In an effort to generate high-purity retroparticle preparations, devoid of subcellular contaminants and contaminating genomic DNA, we have developed a process using size-exclusion chromatography combined with host cell nucleic acid digestion and concentration by ultrafiltration. The procedure allowed for a final recovery of 19 +/- 0.4% infectious viral particles from unfractionated starting material, with an average retroparticle concentration of 7.7 x 10(7) +/- 1.5 x 10(6)/ml. The intact virus is of high purity, >90% as determined by anion-exchange high-performance liquid chromatography. Retroparticle structure appeared intact as determined by negative stain electron microscopy and purified virus was functional and allowed for efficient transduction of primary human bone marrow stromal cells in vitro. In conclusion, we have developed a VSV-G retrovector purification process that can be applied to large-scale retroviral production ideal for cell and gene therapy applications.     

Influence of imprecision on ROC curve analysis for cardiac markers

BACKGROUND: There has been considerable debate regarding the impact of assay imprecision on the performance of cardiac biomarkers for diagnosis of acute coronary syndromes (ACS) and risk stratification for future adverse cardiac events. METHODS: Using existing data from 2 published clinical trials, we used a resampling method to statistically introduce 5%, 10%, and 20% imprecision to results for B-type natriuretic peptide (BNP) and cardiac troponin I (cTnI) and examined its impact on ROC curve analysis. RESULTS: Superimposition of artificial imprecision produced no significant difference in the area under the ROC curve observed for BNP for diagnosis of heart failure or for cTnI for 30-day risk stratification of patients with ACS. CONCLUSION: Assay imprecision does not appear to be a critical determinant in the interpretation of cardiac marker results for patients with heart disease.     

The awareness of oral cancer in adult patients attending School of Dental Sciences, Universiti Sains Malaysia: a preliminary study

OBJECTIVE: Lack of awareness of signs and symptoms and risk factors of oral cancer can lead to late presentation of the disease that contributes to poor survival of patients who contract it. This study aims to determine the level of awareness regarding oral cancer in adult patients attending School of Dental Sciences, Universiti Sains Malaysia. MATERIALS AND METHODS: This was a cross-sectional study in which face-to-face interview of 108 subjects aged 20-65 was conducted. The questionnaire consisted of personnel details and questions regarding awareness of risk factors, complications, signs and symptoms, and prevention of oral cancer. Each response was assigned scores where one (1) mark was given for a correct answer and one (1) mark was subtracted for every wrong answer. The scores were added up to obtain total individual score. RESULTS: Majority of the patients interviewed were from the age range of 20-29. Most of the respondents were Malays with females having a higher percentage (52.8%) than males (47.2%). Majority of the patients (89.9%) were aware regarding the presence of the oral cancer. However, there was no significant association of age range and gender (p > 0.05). 96.7% of subjects who have had higher education were significantly more aware about the presence of oral cancer when compared to those without any schooling (p < 0.05). There was a high awareness of the link between smoking, tobacco chewing, betel nut chewing, and alcohol (93.5%, 85.2%, 75.9%, and 68.5%, respectively) with oral cancer. Almost three-fourth (73%) scored between 10 and 19 out of the maximum of 23 with the mean score of 13.4 (standard deviation, 4.37). All our subjects agreed that early detection of oral cancer could improve chances of successfully treating them. CONCLUSION: There was a moderate level of awareness regarding oral cancer towards its risk factors, complications, signs and symptoms, and prevention of oral cancer.