Potential mutations of thyroid peroxidase gene in children with congenital hypothyroidism in Isfahan province

Congenital hypothyroidism [CH], the most common congenital endocrine disorder, in childhood and one of the causes of mental retardation, may be caused by defects in the enzymatic cascade of thyroid hormone synthesis, called thyroid dyshormonogenesis, of which thyroid peroxidase gene [TPO] mutations are one of the most common causes. The aim of this study was to assess frequency of TPO gene defects in patients with thyroid dyshormonogenesis in Isfahan province. This was a cross sectional study conducted on 40 patients with permanent congenital hypothyroidism, due to thyroid dyshormonogenesis. Genomic DMA was extracted from the peripheral blood of these patients, using the salting out method. The 17 exonic region of the TPO gene was amplified and mutation screening was performed by single-strand conformational analysis [SSCP] and sequencing. Results demonstrated one missense mutation in the [G2669A] location of exon 15 in one patient and seven different single nucleotide polymorphisms [SNPs] in exons 1, 7, 8, 11 and 15 of the TPO gene. Frequency of TPO gene mutation in this study was lower in comparison to other similar studies. It remains possible that in these patients, the disorder was caused by a TPO gene defect in regulatory or intronic regions. In addition, methods besides SSCP analysis and detection of other gene defects in thyroid dyshormonogenesis need to be further investigated in this field

[Quantitative real-time PCR technique for rapid diagnosis of trisomy 21]

Prenatal diagnosis and prevention of live-born children with Down syndrome is a principle priority of Iran's ministry of health. The aim of this study was the rapid diagnosis of Down syndrome by quantitative real-time PCR technique as a new method for prenatal diagnosis. In this experimental study, two milliliters of peripheral blood was obtained from each patient and normal control. Then genomic DNA was extracted using salting out method. DYRK1A2 gene as target gene and PMP22 gene as reference gene were analyzed by quantitative real-time PCR technique. DYRK1A2/PMP22 gene ratio was 1.68 +/- 0.13 and 1.00 +/- 0.09 in Down syndrome and normal samples, respectively [p<0.001], demonstrating 3 copies of target [DYRK1A2] gene in trisomy 21 syndrome and 2 copies in normal individuals. DYRK1A2/PMP22 gene ratio is significantly higher in patients with Down syndrome compared with normal individuals. So, quantitative real-time PCR technique can be used as a sensitive, accurate and reliable technique for rapid diagnosis of trisomy 21 syndrome

[Protective effect of vitamin E on diabetes induced apoptosis and oxidative stress in rat heart tissue]

The purpose of this study was to determine and to assess the protective effect of vitamin E on cardiomyocyte apoptosis and oxidative stress status in the heart under hyperglycemic conditions, in vivo. Wistar male rats [n=16] at 6 months of age were made hyperglycemic by STZ. Same age, normal wistar rats [n=8] were used for comparison [controls]. Diabetic rats were divided into two groups, the nontreated and those treated with vitamin E [300mg/kg/daily]. Diabetic rats exhibited severe apoptosis in cardiomyocytes. Also significant increases in lipid peroxidation as measured by 8- isoprostan, protein oxidation as measured by protein carbonyl content and superoxide dismutase were observed after 6 weeks. Catalase activity was shown to increase in controls compared to nontreated rats. A distinct elevation in the HbA1C, QT interval and a decline in the activity of catalase were also observed. Vitamin E treated rats shown significant decline in apoptosis, lipid peroxidation, protein carbonyl and QT interval compared to nontreated rats. Vitamin E decreased the incidence of apoptosis in cardiomyocytes, lipid peroxidation and improve antioxidant enzyme in the diabetic hearts of rats. Further research to confirm the findings is recommended

[Report of a rare variation in ulnar nerve and its importance in surgery of carpal tunnel syndrome]

To report a variation in ulnar nerve and its importance in carpal tunnel syndrome surgery. The case is a patient that due to pain in carpal region and parasthesia in the second and third digits of both hands had referred. In physical examination there were phalan test and tinel sign. Electromyography [EMG] and Nerve Conducting [NC] confirmed the carpal tunnel syndrome and the surgery was conducted on the left hand. During surgery an aberrant branch found on retinaculum flexore that separated from ulnar nerve in Gugon's canal. The branch crossed with retinaculum flexor and then tended toward thenar muscles Forming a neuroma. Regarding the crossing of the aberrant branch with retinaculum flexor, it should be distinguished during releasing of retinaculum flexor in carpal tunnel syndrome surgery. Carelessness about this aberrant branch and its cutting leads to impairment of thumb movement

Mature teratoma of the posterior mediastinum: a case report

Mature teratomas are the most common type of mediastinal germ cell tumors. They typically occur in young adults [15 to 35 years] and 95% of these teratomas occur in the anterior mediastinum. Herein, we report a case of a huge mediastinal teratoma in a 16-year-old boy who presented with a history of chest pain, cough, exertional dyspnea, and fever. Chest X-ray and spiral computed tomography [CT] revealed a bulky mass of 20 cm X 15 cm in the right side of the posterior mediastinum. The operative finding was a large cystic mass in the posterior mediastinum adherent to the neighbor organs. The cyst was filled with sebum, hair and calcified materials. The resected tumor was in the posterior mediastinum, although most of these tumors occur in the anterior mediastinum. To the best of our knowledge, this is the first documented report in Iran

[Effects of ginger [zingiberaceae] on diabetes mellitus induced changes in the small intestine of rat]

Diabetes mellitus is the most common endocrine disorder and causes gastrointestinal complications .The aim of this study was to investigate the effects of ginger on the small intestine of diabetic rats. This experimental study was done in the anatomy department of Uremia Medical University in 1385. 24 adult male rats, weighing 250 +/- 20 gr were randomly selected and divided into 3 following groups: control, diabetic [induced by 60mg/kg STZ] and treatment groups. The treatment group was given ginger powder [5% of their consumed food weight during day/night period]. After 8 weeks, all rats were anaesthetized and their small intestines were removed and measured for their weight and length. For histological assessment, samples from each part of duodenum, jejunum and ileum was fixed in 10% formalin and slides with hematoxilin and eosin staining were prepared. Villi length, crypt depth and muscular layer thickness were assessed by graticule eye piece of light microscope. Statistical analysis, one- way analysis of variance and Tukey's SPSS software was used for data analysis. The results showed that mean of intestinal length and weight, villi length and muscular layer thickness in all three parts and crypts depth in duodenum and jejunum in diabetic group increased significantly in comparison with control and treatment groups, but there was no significant difference between control and treatment groups. The results of this study demonstrate that ginger as an antioxidant, through decreasing oxidative stress, can prevent pathologic alterations induced by diabetes in small intestine

Effects of L-arginine on percentage of healing in burns in rats

Nitric oxide [NO] is a free radical with a short half life and is recognized as an important mediator involved in various pathological and pathophysiological processes. It is produced by oxidation of L-arginine. There are many different reports about its beneficial effects in burns. The aim of the present study is to assess the effects of L-arginine [NO Precursor] and L-NAME [NO inhibitor] on epithelialization and precentage of healing of the burns in rats. 60 adult male rats with the weight of 250-270g were entered into this study. After induction of general anesthesia, a certain area on the back region was exposed to 95c water for 8 seconds in order to produce wet burns. Then the animals were divided into two equal groups randomly. Each group divided further into three sub-groups: control, L-arginin which received 100 mg/kg L-arginine intraperitonealy and L-NAME which received l0 mg/kg L-NAME. Injections in the first group performed on the first, third and fifth days and skin biopsies were taken on the seventh day after burn. Injections in the second group performed every other day from the first to the 13th day, and specimens were obtained on the 15th day. After staining the samples with H and E, the extent of epithelialization was evaluated. The percentage of wound healing was another index which was assessed by measuring the surface of the healed area on the fifth, tenth and 15th day after burn. The rate of epithelialization [new epiderm] from edge of intact skin in L-arginine group was higher than those of other groups. Also L-arginine group revealed a higher perecentage of healing than other groups but it was not statistically significant. In this study none of the groups showed complete wound closure but NO somewhat accelerated the wound healing process

[Hyperthermia can accelerate the healing process of 2[nd] degree burn wounds]

The present study aimed at evaluating the effect of local hyperthermia on the healing of burn wounds. Right and Left flunks of 8 Balb-c mice [as treated and control wounds respectively] were burned. Local hyperthermia was applied only for the burn wounds of the right flunks [the treated wound]. Sampling was accomplished on the 6[th] day for half of the mice and on the 9[th] day for the other half. The treated wounds had significantly smaller sizes than control wounds on the 6[th] day [P=0.019] and the 9[th] day [P=0.007]. The number of hair follicles and sebaceous glands of the treated wounds were significantly more than those of control wounds both on the 6[th] day [P=0.025 and P=0.043, respectively] and on the 9[th] day [P=0.012 and P=0.033, respectively]. Regarding the neovascularization there was no significant difference between the treated and control wounds on the 6[th] day but on the 9[th] day the neovascularization of the treated wounds was significantly more comparing to the control wounds [P=0.025]. Acute inflammation of the treated wounds was significantly less than the control wounds [P=0.015]. Collagen formation and reepithelialization in the treated wounds were more than the control wounds both on the 6[th] and 9[th] days. It is concluded that local hyperthermia can accelerate the healing process of the second degree burn wounds