A preliminary mutation analysis of phenylketonuria in southwest Iran.

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled. The exons were sequenced directly and 13 different mutations were identified including I224T, S231P, R176X, c.592_613del22, R243X, R252W, R261Q, Y356X, V388M, IVS10-11G>A, IVS11+1G>C, IVS11-2A>G, and Q375R, which were associated with 23 genotypes. A novel sequence variant, Q375R (c.1124A>G), was detected in exon 11. In one patient, a typical genotype with more than two mutations (R243X/S231P/S231P) was found. Seven different polymorphisms and three new variants were also detected in intron regions of PAH. A high mutation spectrum was predicted in the southwestern region of Iran due to its ethnic heterogeneity, especially the Khuzestan Province. The detection of 13 different mutations, corresponding to a mutation detection rate of 53.75%, confirmed this phenomenon.

Reliability of calcium-binding protein S100B measurement toward optimization of hyperosmolal therapy in traumatic brain injury.

BACKGROUND: Osmotherapy is a cornerstone for the management of severe Traumatic Brain Injury (TBI). Hypertonic saline (HTS) has advantages as being preferred osmotic agent, but there is inadequte knowledge regarding dose and its saftey in comparison to mannitol. S100B, as a specific neuroinflammatory biomarker in TBI might be a reliable therapeutic index following osmotic therapy. AIM: To compare both administration ways of HTS 5% (bolus and infusion) with mannitol upon S100B as a therapeutic tool for monitoring treatment in TBI patients. METHOD: Adult patients wih modrate to severe TBI were recruited and have randomly received one of the three protocols: 125 cc of HTS 5% every 6 hrs (N: 11) as bolus; 500 cc of HTS 5% (N: 12) as infusion for 24 hrs; or 1 g/kg mannitol of 20% (N: 10) as a bolus, repeated with a dose of 0.25-0.5 g/kg every 6 hrs based on patient's response for 3 days. Serum S100B, blood pressure, serum sodium and osmolality and Glascow coma score (GCS) were measured at baseline and daily for 3 days. RESULTS: Initial serum S100B level in TBI patients was higher than control group (p < 0.0001). Levels of measured S100B have decreased for all treatment groups, but reduction wasn't significantly after hyperosmolal therapy. GCS level increased significantly in infusion group (p = 0.002) and there were negative and significant correlation between serum S100B level and GCS level in some days. Mean arterial pressure increased significantly in HTS groups (bolus: p = 0.002, infusion < 0.0001). CONCLUSIONS: S100B is closely related to the pathophysiological mechanism in TBI and may be useful as a therapeutic tool for treatment monitoring in TBI patients HTS is a safe and effective osmotic agent in TBI setting.  

Resistance of wheat lines to Rhopalosiphum padi (Hemiptera: Aphididae) under laboratory conditions.

Bird cherry-oat aphid, Rhopalosiphum padi (L.), a polyphagous species with a nearly worldwide distribution, is an important pest of wheat as well as the main vector of barley yellow dwarf virus. We evaluated the resistance categories of eight wheat lines including antibiosis, antixenosis, and tolerance against R. padi under laboratory conditions. The wheat lines tested were ERWYT 88-8, ERWYT 87-6, and ERWYT 87-4 (resistant); ERWYT 87-1, ERWYT 87-20, and ERWYT 88-11 (susceptible); ERWYT 88-12 and ERWYT 88-13 (intermediate). In the antibiosis experiment, R. padi produced fewest progeny on ERWYT 88-8, ERWYT 87-6, and ERWYT 87-4 in reproduction period. In the antixenosis test, R. padi performed best on ERWYT 87-1, ERWYT 87-20, and ERWYT 88-11. Fewer apterous aphids selected ERWYT 88-8, ERWYT 87-4, and ERWYT 87-6 lines indicating antixenosis of these lines to R. padi. In tolerance experiments, however growth parameters differed between treated and untreated seedlings of wheat lines with 10 aphids per day infestation during 21-d period, but not among eight wheat lines. The plant resistance index values were greatest for ERWYT 88-8 (9.71), followed by ERWYT 87-4 (7.04) and ERWYT 87-6 (4.76). ERWYT 88-8, ERWYT 87-6, and ERWYT 87-4 may be important sources of R. padi resistance for small grain breeding and integrated pest management programs.