A Comparative Study on The Efficacy of A Commercial Prebiotic, Probiotic and Organic Acids in Improving the Performance of Broiler Chicken

Non antibiotics in the form of organic acids, prebiotics, probiotics and synbiotics have the potential to eliminate the usage of antibiotics in poultry feeding. Four experiments were conducted to establish the potencies and usage levels of commercial non antibiotics feed additives in poultry. Experiment 1 was a 4 × 2 factorial arrangement of four feed additive programs (a basal diet without any feed additive as control, basal diet added with organic acids, basal diet added with prebiotic and basal diet added with probiotic) with National Research Council (NRC) recommended or low (90 % of recommended) levels of energy. A total of 640 day-old male and female broiler chicks were randomly assigned to one of eight treatments, with four littered floor pens of 20 birds. Starter and finisher diets were fed from 1 to 21 and 22 to 42 d of age, respectively. Dietary level of other nutrients, housing and general management practices were same for all treatments. Dietary inclusion of additives had no significant effect on broilers performance, intestinal villus height, crypt depth, gut pH and dietary AME. Birds fed low energy diets were heavier (2447 g compared to 2390 g) but had inferior FCR (1.830 compared to 1.698) than those fed NRC recommended energy diets. However, protein digestibility was significantly higher for prebiotic (74.9 %) and organic acid (71.4 %) treatments compared to control (67.5 %). NRC recommended energy diets significantly increased AME and protein digestibility compared to low energy diets. No interaction was observed for measured parameters. In Experiment 2, a total of 288 day old male Cobb chicks were randomly assigned to a 2 × 4 factorial arrangement, with two levels of crude protein (NRC recommended or low) and four feed additive programs which were similar to experiment 1. Lowering dietary protein level, significantly decreased bird performance. Birds fed prebiotic supplemented diets had better FCR than control during 22-42 (1.882 vs 1.984) and 1-42 (1.769 vs 1.839) d of age. Also, supplementation with prebiotic resulted in longer duodenum villi compared to control treatment. All feed additives significantly increased antibody titers against Newcastle disease at 21 d of age. Experiment 3 was conducted using a 2 × 2 × 2 factorial arrangement with two levels of prebiotc (with or without), two levels of crude protein (NRC recommended or low level) and two levels of stocking density (normal or high). Protein level had significant effects on broiler performance. Supplementation with prebiotic had no significant effect on performance and other parameters. Birds reared at high density, had inferior finisher (22-42 d) and overall FCR (1-42 d) compared with birds housed at normal density. Significant interactions between protein levels and stocking density were observed for body weight gain and final body weight. Prebiotic, protein level and stocking density had no significant effect on spleen and bursa ratio weight. Protein level had no significant effect on antibody titer against Newcastle disease. However, normal density resulted in higher antibody titer (2.67) against Newcastle disease compared to high density (2.50). Stocking density had no significant effect on blood levels of glucose, cholesterol, corticosterone and heterophil to lymphocyte ratio. In Experiment 4, effects of different feed additives on performance, tibial dyschondroplasia (TD) incidence and tibia characteristics of male broilers fed low calcium diets were studied. A completely randomized design, with 6 treatments and 5 replicates of 5 chicks was used. Experimental treatments were: 1. Basal diet containing recommended level of calcium (1 %) as control treatment, 2. Low calcium (0.67 %) diet without any additive, 3. Low calcium diet added with probiotic, 4. Low calcium diet added with prebiotic, 5. Low calcium diet added with mixture of probiotic and prebiotic, 6. Low calcium diet added with organic acids. Different treatments had no effect on TD incidence. Feeding with low calcium diet negatively influenced not only broiler performance but also tibia characteristics. However, dietary inclusion of all feed additives had beneficial effects on above mentioned parameters. In conclusion, the results of current project indicated that prebiotic and organic acids improved protein digestibility. Supplementation with probiotic, prebiotic and organic acids resulted in better immunity as measured by higher antibody titers against Newcastle disease. When low calcium diets were fed, dietary inclusion of all feed additives had beneficial effects on broilers performance as well tibia characteristic. Under condition of this project, among different feed additives, prebiotic had the most beneficial effects on broilers

Development of Chitosan/Gelatin/Keratin Composite Containing Hydrocortisone Sodium Succinate as a Buccal Mucoadhesive Patch to Treat Desquamative Gingivitis

The aim of this research was to develop chitosan/gelatin/keratin composite containing hydrocortisone sodium succinate as a buccal mucoadhesive patch to treat desquamative gingivitis, which was fabricated through an environmental friendly process. Mucoadhesive films increase the advantage of higher efficiency and drug localization in the affected region. In this research, mucoadhesive films, for the release of hydrocortisone sodium succinate, were prepared using different ratios of chitosan, gelatin and keratin. In the first step, chitosan and gelatin proportions were optimized after evaluating the mechanical properties, swelling capacity, water uptake, stability, and biodegradation of the films. Then, keratin was added at different percentages to the optimum composite of chitosan and gelatin together with the drug. The results of surface pH showed that none of the samples were harmful to the buccal cavity. FTIR analysis confirmed the influence of keratin on the structure of the composite. The presence of a higher amount of keratin in the composite films resulted in high mechanical, mucoadhesive properties and stability, low water uptake and biodegradation in phosphate buffer saline (pH = 7.4) containing 104 U/ml lysozyme. The release profile of the films ascertained that keratin is a rate controller in the release of the hydrocortisone sodium succinate. Finally, chitosan/gelatin/keratin composite containing hydrocortisone sodium succinate can be employed in dental applications

Efficacy of Conventional Laser Irradiation Versus a New Method for Gingival Depigmentation (Sieve Method): A Clinical Trial

Introduction: Diode laser irradiation has recently shown promising results for treatment of gingival pigmentation. This study sought to compare the efficacy of 2 diode laser irradiation protocols for treatment of gingival pigmentations, namely the conventional method and the sieve method.Methods: In this split-mouth clinical trial, 15 patients with gingival pigmentation were selected and their pigmentation intensity was determined using Dummett’s oral pigmentation index (DOPI) in different dental regions. Diode laser (980 nm wavelength and 2 W power) was irradiated through a stipple pattern (sieve method) and conventionally in the other side of the mouth. Level of pain and satisfaction with the outcome (both patient and periodontist) were measured using a 0-10 visual analog scale (VAS) for both methods. Patients were followed up at 2 weeks, one month and 3 months. Pigmentation levels were compared using repeated measures of analysis of variance (ANOVA). The difference in level of pain and satisfaction between the 2 groups was analyzed by sample t test and general estimate equation model.Results: No significant differences were found regarding the reduction of pigmentation scores and pain and scores between the 2 groups. The difference in satisfaction with the results at the three time points was significant in both conventional and sieve methods in patients (P = 0.001) and periodontists (P = 0.015).Conclusion: Diode laser irradiation in both methods successfully eliminated gingival pigmentations. The sieve method was comparable to conventional technique, offering no additional advantage

Increased Prevalence 12308 A > G mutation in Mitochondrial tRNALeu (CUN) Gene Associated with earlier Age of Onset in Friedreich Ataxia

How to Cite this Article: Heidari MM, Khatami M, Houshmand M, Mahmoudi E, Nafissi Sh .Increased Prevalence 12308 A > G mutation in MitochondrialtRNALeu (CUN) Gene Associated with earlier Age of Onset in Friedreich Ataxia. Iranian Journal of Child Neurology 2011;5(4):25-31.Objective Friedreich ataxia (FRDA) is an inherited recessive disorder. Mitochondrial DNA is a candidate modifying factor for FRDA.The purpose of this study was to investigate the relationship between the tRNALeu (CUN) 12308 A> G mutation and age of onset in Friedreich ataxia.Materials & Methods The 12308 A> G substitution in mitochondrial tRNALeu (CUN) was examined in DNA samples from 30 Friedreich ataxia patients and 48 control subjects by temporal temperature gradient gel electrophoresis (TTGE) and sequencing. Logistic regression was used to determine of cutoff age of onset.ResultsTwenty-two patients had the 12308 A> G mutation, and we found that its overall prevalence was significantly higher in 20 patients aged 17 years or younger than in 2 patients aged over 17 years (90% versus 10%). The 12308 A> G mutation lies in a region that has been highly conserved between species.Conclusion Our results show that the 12308 A > G mutation is associated with earlier age of onset in Friedreich ataxia. Thus, this mutation might cause the younger age of onset in FRDA.References Grabczyk E, Usdin K. The GAA*TTC triplet repeat expanded in Friedreich ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 2000;28(14):2815-22.Sakamoto N, Chastain PD, Parniewski P, Ohshima K, Pandolfo M, Griffith JD, et al. Sticky DNA: self association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich ataxia. Mol Cell1999;3(4):465-75.Lodi R, Cooper JM, Bradley JL, Manners D, Styles P, Taylor DJ, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A 1999;96(20):11492-5.Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276(5319):1709-12.Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16(4):352-7.Ramazzotti A, Vanmansart V, Foury F. Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomycescerevisiae. FEBS Lett 2004;557(1-3):215-20.Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich ataxiaelicits iron accumulation in mitochondria. FEBS Lett1997;411(2-3):373-7.Foury F, Talibi D. Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain. J Biol Chem 2001;276(11):7762-8.Koeppen AH. Friedreich ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303(1-2):1-12.Kish SJ, Bergeron C, Rajput A, Dozic S, Mastrogiacomo F, Chang LJ, et al. Brain cytochrome oxidase in Alzheimer’s disease. J Neurochem 1992;59(2):776-9.Schapira AH. Mitochondrial complex I deficiency in Parkinson’s disease. Adv Neurol 1993;60(1):288-91.Lu F, Selak M, O’Connor J, Croul S, Lorenzana C, Butunoi C, et al. Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in chronicactive lesions of multiple sclerosis. J Neurol Sci2000;177(2):95-103.Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich ataxia. Hum Mol Genet 2000;9(2):275-82.Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet1997;17(2):215-7.van den Ouweland JM, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BF, Maassen JA. Mutations in mitochondrial tRNA genes: non-link age with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res 1992;20(4):679-82.Harding AE. Friedreich ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104(3):589-620.Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich ataxia. Can J Neurol Sci 1976;3(4):279-86.Campuzano V, Monter mini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271(5254):1423-7.Tan DJ, Bai RK, Wong LJ. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res 2002;62(4):972-6.Sanchez M, Anitua E, Azofra J, Andia I, Padilla S, Mujika I. Comparison of surgically repaired Achilles tendon tearsusing platelet-rich fibrin matrices. Am J Sports Med2007;35(2):245-51.Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature1981;290(5806):457-65.22. Marmolino D. Friedreich ataxia: past, present and future.Brain Res Rev 2011;67(1-2):311-30.Houshmand M, Mahmoudi T, Panahi MS, Seyedena Y,Saber S, Ataei M. Identification of a new human mt DNA polymorphism (A14290G) in the NADH dehydrogenase subunit 6 gene. Braz J Med Biol Res 2006;39(6):725-30.Rona RJ, Reynolds A, Allsop M, Morris RW, Morgan M, Mandalia S. Audit from preschool developmental surveillance of vision, hearing, and language referrals. Arch Dis Child 1991;66(8):921-6.Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M. A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich ataxia. Cell Mol Neurobiol 2009;29(2):225-33.Covarrubias D, Bai RK, Wong LJ, Leal SM. Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet 2008;53(10):924-8.Pulkes T, Sweeney MG, Hanna MG. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet 2000;356(9247):2068-9.Wei YH. Oxidative stress and mitochondrial DNA mutations in human aging. Proc Soc Exp Biol Med1998;217(1):53-63.Hess JF, Parisi MA, Bennett JL, Clayton DA. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1991;351(6323):236-9.

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation

How to Cite This Article: Karimzadeh P, khayatzadeh kakhki S,Esmail Nejad Sh. S., Houshmand M,Ghofrani M. Ataxia oculomotor apraxia 1 in two siblings of a family:a novel mutation. Iran J Child Neurol.Winter 2017; 11(1):78-81.AbstractAlthough AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are the most two common and typical manifestations. Oculomotor apraxia is usually seen a few years after the manifestations start. APTX gene on 9p13.3 chromosome is expressed in the cells of all human body tissues and different mutations had been discovered. Here we report two siblings (a girl and a boy) of consanguineous parents visited at Mofid Pediatrics Hospital in 2015, with history of gait ataxia, titubation, tremor, and oculomotor apraxia around five yr old and after that. The brother showed symptoms of disease earlier and more severe than his sister did. After ruling out the common etiologies of progressive ataxia, we did genetic study for AOA1 that showed a homozygous frameshift mutation as c.418_418 del was found. This mutation was not reported before so this was a new mutation in APTX gene.References1. Jafar-Nejad P, Maririch SM, Zoghbi HM .The cerebellum and hereditary ataxias. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF. Swaiman’s Pediatric Neurology Principles, and Practice.15th ed. 2012.P.939-952.2. Pina-Garza JE. Ataxias. In:Pina-Garza JE. Fenichel Clinical pediatric neurology. 7th ed. 2013.P.215-231.3. Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003; 126:2761-72.4. Coutinho P, Barbot C. Ataxia with Oculomotor Apraxia Type 1. 2002 Jun 11 [Updated 2015 Mar 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https:// www.ncbi.nlm.nih.gov/books/NBK1456/5. Shahwan A, Byrd PJ, Taylor AM, Nestor T, Ryan S, King MD. Atypical presentation of ataxia-oculomotor apraxia type 1. Dev Med Child Neurol 2006 Jun; 48(6):529-32. 6. Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002; 59(4):590-5.7. Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C,and et al. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain 2011; 134:1387-99.8. Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001; 68(2):501-8

The Determinants of Walking Behavior before and during COVID-19 in Middle-East and North Africa: Evidence from Tabriz, Iran

To support the global strategy to raise public health through walking among adults, we added the evidence on predictors of walking behavior in the Middle East and North Africa (MENA) region by emphasizing the mediator—COVID-19. During the COVID-19 outbreak, public restrictions to encompass the spread of the disease have disrupted normal daily lifestyles, including physical activity and sedentary behavior. It was proposed that tremendous changes have occurred on predictors of physical activity in general and walking behavior in particular for three types of walking, including commute, non-commute, and social walking compared to pre-COVID-19 time. This study aimed to identify the determinants of the walking types mentioned above, including subjective and objective variables before COVID-19, and compare them during the COVID-19 period in a sample from Iran, which has not yet been addressed in previous research. Adults (N = 603) finalized an online survey between June 5 and July 15, 2021. This group reported their individual/socioeconomic locations (e.g., home/work) and perception features before and during COVID-19. The paper developed six Binary Logistic (BL) regression models, with two models for each walking type (commute, non-commute, and social walking). For commute trips before COVID-19, the findings showed that factors including BMI, residential duration, p. (perceived) neighborhood type, p. distance to public transport stations and job/university places, p. sidewalks quality, p. facilities attractiveness, p. existence of shortcut routes, commute distance, building density and distance to public transport were correlated with commute walking. At the same time, such associations were not observed for BMI, p. distance to public transport and job/university places, p. facilities attractiveness, building density, and distance to public transport during COVID-19. The variables include age, possession of a driving license, number of family members, p. neighborhood type, p. distance to grocery, restaurant, parking, and mall, p. existence of sidewalks, land-use mix, and distance to public transport indicated correlations with non-commute before COVID-19. However, p. distance to groceries and malls and the p. existence of sidewalks did not correlate with non-commute walking during COVID-19. Ultimately for social walking, age and income variables, and the considerable proportions of subjective variables (e.g., p. distance to services/land-uses, security, etc.), health status and building density were correlated with social walking before COVID-19. Nevertheless, most of the mentioned variables did not explicitly correlate with social walking during COVID-19. As for the implication of our study, apparently, special actions will be needed by urban authorities to encourage adults to enhance their walkability levels by fully considering both objective and subjective indicators and walking types, which will result in healthier lifestyles

Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study

 How to Cite This Article: Tonekaboni SH, Ebrahimi A, Bakhshandeh Bali MK, Houshmand M, Moghaddasi M, Taghdiri MM, Nasehi MM. Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study. Iran J Child Neurol. 2013 Winter; 7 (1):25-29. Objective Dravet syndrome or severe myoclonic epilepsy of infancy (SMEI) is a baleful epileptic encephalopathy that begins in the first year of life. This syndrome specified by febrile seizures followed by intractable epilepsy, disturbed psychomotor development, and ataxia. Clinical similarities between Dravet syndrome and generalized epilepsy with febrile seizure plus (GEFS+) includes occurrence of febrile seizures and joint molecular genetic etiology. Shared features of these two diseases support the idea that these two disorders represent a severity spectrum of the same illness. Nowadays, more than 60 heterozygous pattern SCN1A mutations, which many are de novo mutations, have been detected in Dravet syndrome. Materials & Methods From May 2008 to August 2012, 35 patients who referred to Pediatric Neurology Clinic of Mofid Children Hospital in Tehran were enrolled in this study. Entrance criterion of this study was having equal or more than four criteria for Dravet syndrome. We compared clinical features and genetic findings of the patients diagnosed as Dravet syndrome or GEFS+. Results 35 patients (15 girls and 20 boys) underwent genetic testing. Mean age of them was 7.7 years (a range of 13 months to 15 years). Three criteria that were best evident in SCN1A mutation positive patients are as follows: Normal development before the onset of seizures, onset of seizure before age of one year, and psychomotor retardation after onset of seizures. Our genetic testing showed that 1 of 3 (33.3%) patients with clinical Dravet syndrome and 3 of 20 (15%) patients that diagnosed as GEFS+, had SCN1A mutation. Conclusion In this study, normal development before seizure onset, seizures beginning before age of one year and psychomotor retardation after age of two years are the most significant criteria in SCN1A mutation positive patients.References Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O.Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th  ed. London: John Libbey Eurotext Publishers; 2005. p. 89-113.Dalla Bernardina B, Colamaria V, Capovilla G, Bondavalli S. Nosological classification of epilepsies in the first three years years of life. Prog Clin Biol Res 1983;124:165-83.Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-99.Scheffer IE, Zhang. YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31(5):394-400.Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, et al. severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42(7):837-44.Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 2005;46 Suppl 10:41-7.Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al. The spectrum of SCN1A-related infantile enceptic encephalopathies. Brain 2007;130(Pt 3):843-52.Sun H, Zhang Y, Liang J, Liu X, Ma X, Qin, et al. Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. Epilepsia 2008;49:1104-7.Miller SA, Dykes DD, polesky HF. A simple salting out procedure  for  extracting  DNA from  human  cucleated Nucleated cells. Nucleic Acids Res 1988;16(3):2115.Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, et al. SCN1A duplications and deletions detected in dravet syndrome: implications for molecular diagnosis. Epilepsia 2009; 50(7):1670-8.Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype- correlations. Epilepsia 2007;48(6):1092-6.Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, et al. Micro chromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 2008;49(9):1528-34.Lossin C. A catalog  of  SCN1A variants.  Brain  Dev 2009;31:114-30.Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE When should clinicians order genetic testing for Dravet syndrome? Pediatr Neurol 2011;45(5): 319-23. Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki  N,  et  al. A screening  test  for  the  prediction of Dravet syndrome before one year of age. Epilepsia 2008;49(4):626–33.Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, et al. spectrum of SCN1A mutations severe myoclonic epilepsy of infancy. Neurology 2003;60(12):1961-7.Ohmori I, Ouchida M, Ohtsuka, Y oka E, Shimizu K. Significant correlation  of  The  SCN1A mutations  and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.Cales. L, Del-favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De jonghe P. De novo mutations in the sodium- chnnel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68(8):1327-32.Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM.Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012;135(Pt 8):2329-36.Engel J Jr; International League Against Epilepsy (ILAE).A proposed diagnostic scheme for people with epileptic seizures  and  with  epilepsy:  report  of  the  ILAE Task force  on  Classifications  and  Terminology.  Epilepsia 2001;42(6):796-803.Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic- clonic seizures. Brain 2003;126:(Pt 3):531-46.Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003;21(6):615-21.Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol 2009;68(2):214-20

A Report of Two Cases of TGM1 Mutations in Iranian Patients with Lamelar Ichthyosis

ObjectiveAutosomal Recessive Congenital Ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, Lamellar Ichthyosis (LI) and Nonbullous Congenital Ichthyosi-formis Erythroderma (NCIE). Lamellar Ichtyosis is caused by mutations in the TGM1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGM1 is a complex enzyme existing as both cytosolic and membrane-bound forms.Moreover, TGM1 is proteolytically processed, and the major functionally active form consists of a membrane-bound 67/33/10-kDa complex with a myristoylated and palmitoylated amino-terminal 10-kDa membrane anchorage fragment. In this study, all 14 coding exons of TGM1 gene were investigated using PCRsequencing method in three Iranian patients with different phenotypes which are often caused by homozygote or compound heterozygote mutations and a homozygote mutation (G218S) in exon 4 and  three heterozygote mutations (R37K, D58N, D86N) in exon 2 were observed. The mutation (D86N) was seen in two patients simultaneously.Key words: TGM1gene, mutation, ARCI, lamellar, ichthyosis, sequencing

Soccer on Social Media

In the era of digitalization, social media has become an integral part of our lives, serving as a significant hub for individuals and businesses to share information, communicate, and engage. This is also the case for professional sports, where leagues, clubs and players are using social media to reach out to their fans. In this respect, a huge amount of time is spent curating multimedia content for various social media platforms and their target users. With the emergence of Artificial Intelligence (AI), AI-based tools for automating content generation and enhancing user experiences on social media have become widely popular. However, to effectively utilize such tools, it is imperative to comprehend the demographics and preferences of users on different platforms, understand how content providers post information in these channels, and how different types of multimedia are consumed by audiences. This report presents an analysis of social media platforms, in terms of demographics, supported multimedia modalities, and distinct features and specifications for different modalities, followed by a comparative case study of select European soccer leagues and teams, in terms of their social media practices. Through this analysis, we demonstrate that social media, while being very important for and widely used by supporters from all ages, also requires a fine-tuned effort on the part of soccer professionals, in order to elevate fan experiences and foster engagement

Mutations in Corneal Carbohydrate Sulfotransferase 6 Gene (Chst6) in Iranian Macular Corneal Dystrophy (MCD) Patients: A Report of 7 Patients from Iran

ObjectiveMacular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6) through genetic analysis of 7 Iranian patients with MCD.Materials & MethodsWe screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step.ResultsFour mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported.