The "plus" side of epilepsy phenotyping

No abstract available

Genetics update: monogenetics, polygene disorders and the quest for modifying genes

The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions. We focus specifically on the quest for modifying genes in inherited channelopathies, using the voltage-gated sodium channels as an example. Epilepsy related to genetic channelopathy is one area in which precision medicine is showing promise. We will discuss the successes and limitations of precision medicine in these conditions

Nitric oxide mediated effect of cyclo-oxygenase inhibitors

Objectives: Non-Steroidal anti-inflammatory drugs (NSAIDS) have long been used as anti-inflammatory agents, yet their mode of action is not entirely clear. The inhibitory effects of NSAIDS on prostaglandin production can only partly explain their anti-inflammatory actions. This study was aimed at defining the role of cycl-oxygenase (COX) inhibitors on nitric oxide (NO) production in murine macrophages in vitro.Methods: Murine macrophages were obtained from the peritoneum and after exposure, in vitro to lipopolysaccharide (LPS) produced nitrite, measured after 24 hours by Griess reaction. The macrophages were pre-incubated with aspirin or indomethacin before activation with LPS.Results: Treatment with aspirin resulted in an increase in nitric oxide production. A similar response was obtained with indomethacin treatment.Conclusion: This study shows that COX inhibitors significantly increase NO production in murine macrophages in vitro and this may be one of the mechanisms by which they exert their anti-inflammatory effects

Vitamin D Deficiency in ambulatory patients

OBJECTIVE: To determine the frequency of subclinical vitamin D deficiency in an ambulatory care setting. METHODS: This was an observational study which measured 25 vitamin D levels in medical clinic patients. Patients with chronic renal failure, known osteomalacia and rickets were excluded. A total of 119 patients were evaluated. They were divided in three diagnostic categories based on their serum 25 vitamin D levels. Those with levels below 8 ng/ml were categorized to have severe deficiency, levels between 8 - 20 ng/ml as moderate deficiency and levels of 21-35 mg/ml as mild deficiency. RESULTS: Of 119 patients, 92% had vitamin D deficiency. Their mean age was 44.3 +/- 18.3 years, with female to male ratio of 5:1. Sixty two percent (62%) had severe, 24% moderate and 8% had mild deficiency. Nearly half of all these patients (including those with severe deficiency) were asymptomatic. Whereas a low serum calcium, elevated phosphate and elevated alkaline phosphatase were reflective of severe deficiency. It was only an elevated iPTH that correlated with mild to moderate deficiency. CONCLUSION: Subclinical vitamin D deficiency is extensive in the adult ambulatory care patients. Serum calcium, phosphate and alkaline phosphatase are poor markers of moderate to mild deficiency. A serum 25 vitamin D level and an iPTH are better biofunctional markers of this deficiency

Demographics Factors and Perception of Brand Consciousness: A Cross-Sectional Study of Basic Clothing Brands in Karachi Pakistan

The purpose of this study is to investigate the purchasing power of Pakistani consumers and to recognize the key elements of branding conditions that affect consumers' buying habits against the latest fashion items. The aim of the study is to identify the importance of clothing brands according to demographic factors, including gender, income, age, and education. We applieddescriptive analysis; chi-square and correlation test were used to analyze the collected sample size of 500 surveyed real-time shoppers selected through non-probability convenience sampling bases from 40 different malls and outlets which are selected through randomly. A research questionnaire was prepared to determine the demographic factors and branded clothes preferences that have an impact on Pakistani consumer’s choices.The study concluded that the demographic factor age hasa significant association with preferences of branded clothes. The demographic factors such as gender, income, and education have an insignificant association with preferences of branded clothes. The results revealed that more or less 50% respondent of all age groups agreed that brand is quite important while considering and purchasing clothes. Strong brand preferences of age group between 18-25(17%), followed by 36-45 (14%), 26-35 (13%), 46 years and above almost 10%. The correlation results concluded that the preferences of branded clothes significantly correlates with price and reference group whereas insignificantly relates with retailer efforts and promotional incentives.We further concluded that age is the vital demographic indicator for stitched garment marketers as well as reference group and price must be considered because both variables are positive and significant influences on branded clothes preferences according to our research findings. DOI: 10.7176/IKM/9-6-02 Publication date:June 30th 201

Progressive intellectual impairment in children with encephalopathy related to status epilepticus during slow sleep

We investigated whether Encephalopathy related to Status Epilepticus during slow Sleep (ESES) in childhood was associated with progressive intellectual decline. Participants were identified from the caseload of a single paediatric neurosciences centre and EEG department. A retrospective review of overnight sleep EEG reports (n=2200) over a five-year period identified twenty-two children as having the neurophysiological characteristics of ESES. All had repeat neuropsychological assessment using the WISC-III (UK) and/or WPPSI-R (UK). There was a statistically significant reduction in Full-Scale IQ and Performance IQ across a mean and median time interval of two years. Around a third of the participants showed a clinically significant regression in intellectual functioning evidenced by =>12-point reduction in IQ. These patients were not distinguishable from the rest of the cohort in terms of clinical history, imaging or duration of ESES. The reduction in IQ reflected reduced processing speed, working memory and overall cognitive efficiency. Children with a history of ESES require close monitoring in order to support educational planning and provide families with accurate information about prognosis

Clinical presentation of thyroid cancer patients in Pakistan--AKUH experience

Objective: To asses the clinical presentation of patients with thyroid cancer, their preferred diagnostic work-up and preferred surgical procedure. Methods: A retrospective chart review of patients that underwent partial or total thyroidectomy for thyroid cancer at AKUH between 1989 and 2002. SPSS was used to analyze data. Pearson\u27s chi square and likelihood ratios used to calculate tests of significance. Results: A total of 97 patients were included in this review. Solitary thyroid nodule was the initial presentation in three. Majority (58.7%) presented with neck swelling or enlarging goiter. One out of every 3 patients showed evidence of lymph node involvement and 20% had distant metastases. The aggressiveness of the disease did not correlate with age, sex or histological subtype. There was no correlation between the size of the tumor and presence of local or distant metastases. CONCLUSION: Thyroid cancer is a more aggressive disease in Pakistan, with majority of patients presenting with multinodular goiters, and a significant number have lymph node metastases. A higher degree of vigilance and a lower threshold for fine needle aspiration (FNA) is needed while evaluating patients with thyroid goiter

Processing of soot in an urban environment: case study from the Mexico City Metropolitan Area

Chemical composition, size, and mixing state of atmospheric particles are critical in determining their effects on the environment. There is growing evidence that soot aerosols play a particularly important role in both climate and human health, but still relatively little is known of their physical and chemical nature. In addition, the atmospheric residence times and removal mechanisms for soot are neither well understood nor adequately represented in regional and global climate models. To investigate the effect of locality and residence time on properties of soot and mixing state in a polluted urban environment, particles of diameter 0.2–2.0 μm were collected in the Mexico City Metropolitan Area (MCMA) during the MCMA-2003 Field Campaign from various sites within the city. Individual particle analysis by different electron microscopy methods coupled with energy dispersed x-ray spectroscopy, and secondary ionization mass spectrometry show that freshly-emitted soot particles become rapidly processed in the MCMA. Whereas fresh particulate emissions from mixed-traffic are almost entirely carbonaceous, consisting of soot aggregates with liquid coatings suggestive of unburned lubricating oil and water, ambient soot particles which have been processed for less than a few hours are heavily internally mixed, primarily with ammonium sulfate. Single particle analysis suggests that this mixing occurs through several mechanisms that require further investigation. In light of previously published results, the internally-mixed nature of processed soot particles is expected to affect heterogeneous chemistry on the soot surface, including interaction with water during wet-removal