Aetiology of severe mental retardation and further genetic analysis by high‐resolution microarray in a population‐based series of 6‐ to 17‐year‐old children

Aim: To investigate the prevalence, co‐morbidities and aetiologies of severe mental retardation (SMR) in a cohort of Swedish children and to further penetrate aetiologies in the group with undetermined causes by application of updated clinical‐genetic methods. Methods: The study was population‐based and included children living in the County of Halland in western Sweden in 2004 (born 1987–1998; 46 000 children). Patients were identified through habilitation centres, paediatric clinics and school health services. Patients with unclear prenatal aetiology were investigated with single nucleotide polymorphism (SNP)‐array. Results: Severe mental retardation was identified in 133 children from 132 families, corresponding to a prevalence of 2.9 per 1000 children. There were more males than females (90:43).The aetiology was prenatal in 82 (62%), perinatal in 14 (10%) and postnatal in 8 (6%). In 29 (22 %) children, mainly males with autism, the cause could not be related to the time of birth. In the prenatal group, genetic causes dominated, but still 23 children remained undiagnosed; in 5/19 of these patients, a diagnosis could be made after SNP‐array analysis. One or more associated neurological handicaps were found in more than half of the children. Conclusion: Prevalence and co‐morbidity were similar to previous Scandinavian studies. High‐resolution chromosomal micro‐array techniques are valuable diagnostic tools, reducing the number of patients with unexplained SMR.     

Ascorbate reduces morphine-induced extracellular DOPAC level in the nucleus accumbens: A microdialysis study in rats

Most drugs of abuse increase dopamine and 3,4-dihydroxyphenylacetic acid (DOPAC) release in the shell of the nucleus accumbens. The effects of ascorbate, which is known to modulate dopamine neurotransmission, on the extracellular level of DOPAC in the nucleus accumbens of naive rats and of rats treated acutely with morphine were studied by using in vivo microdialysis and high performance liquid chromatography with electrochemical detection (HPLC-ECD). Acute morphine (20 mg/kg ip) treatment increased the level of DOPAC in the nucleus accumbens to approximately 170% of basal level. Acute treatment with ascorbate (500 mg/kg ip) alone did not alter nucleus accumbens' DOPAC level, but pretreatment with ascorbate (500 mg/kg ip) 30 min before morphine administration attenuated the effects of acute morphine on the level of DOPAC. These results suggest that ascorbate modulates the mesolimbic dopaminergic pathway.     

The relationship between lichen planus and hepatitis C in dermatology outpatients in Kerman, Iran

BACKGROUND: Lichen planus (LP) is classified as a papulosquamous disease. It has been associated with liver disease, particularly hepatitis C virus (HCV) infection, in several studies. Most of these reports, especially the larger series, were conducted in Europe and Japan. OBJECTIVE: We conducted a case-control study in Kerman, Iran to explore the association between LP and HCV. METHODS: The study included 66 patients with LP (as cases; mean age = 39.7 +/- 15.8 years; 31 female, 35 male) and 140 volunteer blood donors (as controls; mean age = 29.5 +/- 8.4 years; 43 females, 97 males). An enzyme-linked immunosorbent assay (ELISA) was used to determine the presence of anti-HCV antibodies in all subjects in both groups. To confirm positive diagnoses, a second generation recombinant immunoblot assay (RIBA II) test was performed. RESULTS: Lichen planus lesions were most frequently located on the trunk and extremities, and the most common clinical type was generalized LP (48.5%). One of the patients with LP (1.5%) and three of the controls (2.1%) were HCV-Ab positive. No significant difference was observed in HCV-Ab positive between the two groups (OR = 0.7; 95% CI = 0.1-6.9). CONCLUSION: The findings indicate that an investigation for HCV infection should not necessarily be performed in all patients with LP. It is recommended that further studies should focus on larger groups in other regions of Iran to determine whether testing for HCV infection is necessary in patients with LP.     

Blood flow and muscle metabolism in chronic fatigue syndrome

The purpose of this study was to determine if chronic fatigue syndrome (CFS) is associated with reduced blood flow and oxidative delivery to skeletal muscle. Patients with CFS according to CDC (Center for Disease Control) criteria ( n =19) were compared with normal sedentary subjects ( n =11). Muscle blood flow was measured with Doppler ultrasound after cuff ischaemia and exercise. Muscle oxygen delivery was measured as the rate of post-exercise and post-ischaemic oxygen-haem resaturation. Oxygen-haem resaturation was measured in the medial gastrocnemius muscle using continuous wavelength near-IR spectroscopy. Muscle metabolism was measured using (31)P magnetic resonance spectroscopy. CFS patients and controls were not different in the peak blood flow after cuff ischaemia, the rate of recovery of phosphocreatine after submaximal exercise, and the rate of recovery of oxygen saturation after cuff ischaemia. In conclusion, CFS patients showed no deficit in blood flow or oxidative metabolism. This suggests that CFS symptoms do not require abnormal peripheral function.     

Investigating the potential contribution of community pharmacists in identifying,understanding and meeting the bone health needs of patients in collaboration with GPs

Evidence‐based patient‐completed questionnaires were used to assess patients' risk of osteoporosis Community pharmacists significantly increased patient bone health knowledge which was sustained over a 10‐week period; pharmacists significantly contributed to increasing patients' daily calcium intake in line with national recommendations Patients at high‐risk of osteoporosis were identified, appropriately managed in the pharmacy or referred to GPs and followed‐up Patients indicated satisfaction with the programme and felt they had become more aware of bone health All the programme standards were met and gave a mandate for the roll‐out of revised and improved community‐pharmacy based programmes that could meet the bone health needs of patients     

The Role of Anesthetic Drugs in Liver Apoptosis

Context

The modern practice of anesthesia is highly dependent ona group of anesthetic drugs which many of them are metabolized in the liver.

Evidence Acquisition

The liver, of course, usually tolerates this burden. However, this is not always an unbroken rule. Anesthetic induced apoptosis has gained great concern during the last years; especially considering the neurologic system.

Results

However, we have evidence that there is some concern regarding their effects on the liver cells. Fortunately not all the anesthetics are blamed and even some could be used safely, based on the available evidence.

Conclusions

Besides, there are some novel agents, yet under research, which could affect the future of anesthetic agents'' fate regarding their hepatic effects.