Serial MRI in a case of familial hemiplegic migraine

We report MRI findings in a patient with familial hemiplegic migraine (FHM) with repeated episodes of hemiparesis. FHM is caused by a penetrant autosomal dominant genetic mutation; several mutations have been genotyped, involving brain-expressed ion channels. We found cerebral oedema, dilatation of intracerebral vessels and decreased water diffusion contralateral to the hemiparesis, not respecting vascular territories, with subsequent complete resolution of both clinical and imaging abnormalities. These results are thought to be consistent with an underlying primary neuronal pathology with secondary vascular effects, as opposed to the traditional, primarily vascular, model of migraine aetiology.     

Trisomy 21 with XYY

A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G-banding. Literature review revealed only 17 cases of XYY and trisomy 21 reported so far. No such case is reported in Indian literature. Relevant literature is reviewed and possible effects of trisomy 21 on XYY and that of XYY on trisomy 21 has been discussed. A routine chromosomal study even in patient with classical features of Down syndrome has been advocated. Interestingly, our patient also had left to right shunts at atrial and ductal level and tricuspid regurgitation. Given the rarity of the disorder and scanty published data the incidence, phenotype and recurrence risk are difficult to establish.     

Congenital airway abnormalities in neonates

Airway malformations such as laryngeal atresia, tracheal agenesis and subglottic stenosis are rare and present at birth with significant respiratory distress with or without stridor. There may be an initial improvement on bag and mask ventilation. Repeated attempts at intubation are met with failure. The related embryology and clinical aspect of airway malformations have been discussed. The prognosis in tracheal agenesis is universally fatal but cases with laryngeal atresia and subglottic stenosis may be saved with prompt tracheostomy and later surgical reconstruction.     

Artifactual formation of 8-oxo-2'-deoxyguanosine: role of fluorescent light and inhibitors

The pro-mutagenic oxidative DNA lesion, 8-oxo-2'-deoxyguanosine (8-oxodG) has been a subject of numerous studies. However, the absolute 8-oxodG levels in tissue DNA reported by various methods have been debated due to its artifactual production during DNA isolation and/or the DNA processing. We have investigated factors that may result in such artifacts during isolation and analysis of DNA as well as means for its prevention. 8-OxodG content was measured by a recently described TLC enrichment-mediated 32P-postlabeling. Liver DNA from 3 month-old, female Sprague-Dawley rats was isolated by a standard solvent-extraction procedure (phenol, phenol:Sevag, and Sevag; 23 degrees C), a modified solvent-extraction procedure (phenol:Sevag, and Sevag; 4 degrees C; KCl-SDS-protein precipitation) or sodium iodide extraction procedure. 8-OxodG was analyzed in the DNA by the 32P-postlabeling assay using a fluorescent light box during the workup, as well as in its absence. The 8-oxodG levels, when the fluorescent light box was used, were in similar range irrespective of the DNA isolation procedure (16.4+/-1.6 to 28.7+/-6 8-oxodG/10(6) nucleotides). However, the values were significantly lower (3.1+/-0.4 to 3.4+/-0.2 8-oxodG/10(6) nucleotides) in the absence of fluorescence light box, room fluorescent light (suspended through the ceiling) and natural room light did not alter the 8-oxodG levels. Further, the addition of 0.3 mM of PBN (N-t-butyl-alpha-phenyl nitrone) or TEMPO (2,2,6,6-tetramethylpiperidine-N-oxyl), or 6.8 mM 8-hydroxy-quinoline during the DNA isolation resulted in still lower values (0.8+/-0.1 to 1.8+/-0.5 8-oxodG/10(6) nucleotides) although this reduction was not consistently observed in different experiments. These results suggest that fluorescent light is the major 'culprit' in artifactual production and variability reported in the 8-oxodG levels.     

二甲双胍和瑞格列奈对非肥胖的2型糖尿病患者非血糖性心血管危险标志的影响比较

在2型糖尿病患者中，反映炎症和内皮功能障碍的生物标志已经与心血管疾病和代谢调节联系起来。二甲双胍和促胰岛素分泌剂被证明有相同的抗高血糖作用。此研究比较了二甲双胍和促胰岛素分泌剂瑞格列奈在非肥胖的2型糖尿病患者的心血管疾病生物标志上的效能。     

Inter-species comparison of liver and small intestinal microsomal metabolism of fluoranthene.

The magnitude of susceptibility to toxicant exposure may depend on the ability of animals to metabolize the chemicals. The present study has been undertaken to see whether any differences exist among mammals in the metabolism of fluoranthene (FLA), a polycyclic aromatic hydrocarbon (PAH) compound. Microsomes were isolated from the small intestine and liver of rat, mouse, hamster, goat, sheep, pig, dog, cow, monkey, and humans (commercially procured), and incubated with FLA. Post-incubation, samples were extracted with ethyl acetate and analyzed for FLA/metabolites by reverse-phase HPLC with fluorescence detection. The metabolism of FLA in both liver and small intestine was in the order: human > monkey > cow > goat > sheep > dog > pig > hamster > rat > mouse under conditions of the test system used. The rate of metabolism (pmol of metabolite/min/mg protein) was found to be more in liver than in intestine in all the species studied. The FLA metabolites identified were FLA 2,3-diol, trans-2,3-dihydroxy-1,10b-epoxy-1,2,3,10beta tetrahydro FLA (2,3D FLA), 3-hydroxy FLA, and 8-hydroxy FLA. The rodent microsomes produced considerably higher proportion of FLA 2,3-diol, and 2,3D FLA than did pig, dog, and humans. On the other hand, microsomes from higher mammals converted a greater proportion of FLA to 3-hydroxy FLA, the detoxification product of FLA. Overall, our results revealed a great variation among species to metabolize FLA.     

Epidemiology of dengue in Sri Lanka before and after the emergence of epidemic dengue hemorrhagic fever

Before 1989, dengue epidemiology in Sri Lanka was characterized by frequent transmission of all four dengue serotypes but a low incidence of dengue hemorrhagic fever (DHF). After 1989, cases of DHF dramatically increased. Here we present the results of epidemiologic studies conducted in Colombo, Sri Lanka before and after epidemic emergence of DHF in 1989. We compared the proportion of dengue cases among people with fever attending clinics from 1980 to 1984 and in 1997 and 1998 to determine if an increase in dengue transmission was associated with more DHF cases being reported. We also compared the relative distribution of dengue virus serotypes circulating in Colombo before and after the emergence of DHF. We detected no significant differences in dengue as a proportion of fever cases or in serotype distribution between the pre and post-DHF periods. We conclude that an increase in virus transmission or a change in circulating serotypes does not explain the epidemic emergence of DHF in Sri Lanka.