Circumscribed juvenile-onset pityriasis rubra pilaris with hypoparathyroidism and brachyonychia

Circumscribed juvenile-onset pityriasis rubra pilaris (PRP) manifests as well-defined erythematous scaly plaques with follicular keratosis mainly over the elbows and knees. There are several reports of the association of PRP with other conditions. We report a boy with scattered erythematosquamous skin lesions and follicular hyperkeratotic papules since he was 6 years old. Results of a skin biopsy were compatible with PRP. The patient also had hypoparathyroidism and brachyonychia. To our knowledge, this association has not been reported to date, though minor disturbances of calcium and vitamin D metabolism have been mentioned in some disorders of keratinization. We further discuss the epidemiologic, clinical, and pathologic features of PRP; review the conditions associated with brachyonychia; and give a brief discussion about the possible role of calcium metabolism in disorders of keratinization.     

A report of five cases of self-mutilation for the purpose of insurance fraud

Self-mutilation means direct and deliberate destruction of one's own body tissue without intending suicide. Some of the forensic referrals are the fraudulent persons who wish to obtain insurance benefits by simulating self-induced harms as injuries due to accidents. In this article we report five cases of self-mutilation for the purpose of obtaining insurance payments. These cases were interesting because of the following reasons: (1) Fracture of the tibia bone for the purpose of obtaining insurance payments is extremely rare. To our knowledge, the specialised literature does not present a similar case study as we described here. (2) In the cases we describe here, nobody had prior history of social and psychiatric problems and violence. In addition, on examination, no sign of previous scars was found in the whole body skin. (3) Self-mutilation injuries are often painless, parallel and delicate lines which are most frequently in the upper limb opposite to the dominant hand and in the areas that can be easily reached. In one of our cases, self-mutilation of the leg shin and the dominant hand were on the same side of the body. (4) In our study, all of the cases had high school education and were from small counties. Four patients were within the age range of 20–30 years, living in a populous family (six-member family) and of middle socioeconomic status. These results are consistent with previously available data for self-mutilation in Iran.     

Protective effects of 1,3‐diaryl‐2‐propen‐1‐one derivatives against H2O2‐induced damage in SK‐N‐MC cells

Alzheimer's disease (AD) is an age‐related neurodegenerative disorder of the central nervous system resulting in memory loss and dementia. Some of the associated pathogenic changes are amyloid peptide aggregation, excitotoxicity, oxidative stress and inflammation. Oxidative stress plays an indispensable role in the pathophysiology of AD. Therefore, antioxidant therapies appear to be promising approaches in dealing with AD patients. In that line, we evaluated the free radical scavenging capabilities of 13 different chalcones (1,3‐diphenyl‐2‐propen‐1‐one) derivatives against the free‐radical damaging effects of hydrogen peroxide (H₂O₂) on the SK‐N‐MC neuroblastoma cell line. Pretreatment of the cells for 3 h with 20 µ m of each of these derivatives (compounds 8 – 20 ) followed by exposure to 300 µ m H₂O₂ for 24 h indicated that all compounds, except compound 20 , were capable of restoring the viabilities of cells relative to the control (H₂O₂–treated) cells. The destructive effect of H₂O₂ on the adhesive behavior of the cells was almost totally restored by each of the derivatives. In addition, each of the derivatives except compounds 20 and 14 significantly reduced the extent of lipofuscin formation among the cells time‐dependently. Despite these activities, some of the derivatives, such as compounds 12 and 19 , did not reduce the H₂O₂‐induced intracellular ROS (reactive oxygen species) levels, meaning that these two derivatives act through a different mechanism other than free‐radical scavenging activity. On the other hand, for those derivatives acting as anti‐oxidants, structure–activity evaluation clearly revealed that the hydroxyl group of vanillin ring is required for their free‐radical scavenging activities. Copyright © 2010 John Wiley & Sons, Ltd.     

Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations

Metabolic Brain Disease - Maple syrup urine disease is the primary aminoacidopathy affecting branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by the deficiency of an enzyme...     

Design, synthesis and biological evaluation of new 5,5-diarylhydantoin derivatives as selective cyclooxygenase-2 inhibitors

A new group of 5,5-diarylhydantoin derivatives bearing a methylsulfonyl COX-2 pharmacophore at the para position of the C-5 phenyl ring were designed and synthesized as selective COX-2 inhibitors. In vitro COX-1/COX-2 inhibition structure-activity relationships identified 5-[4-(methylsulfonyl)phenyl]-5-phenyl-hydantoin (4) as a highly potent and selective COX-2 inhibitor (COX-2 IC(50) = 0.077 μM; selectivity index > 1298). It was more selective than the reference drug celecoxib (COX-2 IC(50) = 0.060 μM; selectivity index = 405). A molecular modeling study where 4 was docked in the binding site of COX-2 indicated that the p-MeSO(2) COX-2 pharmacophore group on the C-5 phenyl ring is oriented in the vicinity of the COX-2 secondary pocket. The results of this study showed that the type of substituent on the N-3 hydantoin ring substituent is important for COX-2 inhibitory activity.