[Investigation of exon 1 in FXN gene in patients with clinical symptomatic of friedreich ataxia]

Friedreich's ataxia [FRDA] is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two-thirds of these patients suffer from cardiomyopathy and more than 30% have diabetes mellitus. Individuals with FRDA have identifiable mutations in the FXN gene. The most common type of mutation which is observed on both alleles in more than 98% of patients is an expansion of a GAA triplet-repeat in intron of FXN gene. Approximately 2% of individuals with FRDA are compound heterozygotes, who have a GAA expansion in the disease-causing range in one FXN allele and an inactivating FXN mutation in another allele. Aim of the present study was to investigate exon 1 in FRDA gene in patients with clinical symptoms of Friedreich's Ataxia that have not GAA triplet-repeat expansion in intron 1 of FXN gene. In this study, exon 1 in 5 patients suspected of FRDA analyzed using PCR and sequencing. An A to G transition at nucleotide number 815284, in exon 1 was observed in all patients. The results of this study showed that disease-causing homozygous mutations could be because of consanguinity marriage in Iran. Therefore, sequencing of all exons of the gene is necessary

[Comparison of the therapeutic effects of fluoxetine, citalopram, estrogen and progesterone and placebo in the treatment of hot flushes in perimenopausal women]

Frequency and morbidity of hot flushes has led to development of multiple hormonal and non hormonal treatments in the recent years. Fluoxetine and citalopram with limited side effects and high tolerability by most women with hot flushes have attracted the researchers' attention but there are plenty of rooms for disagreement on their effectiveness. In this study the effects of fluoxetine, citalopram, hormone therapy and placebo on perimenopausal flushes, were compared with one another. This study was a randomized clinical trial [RCT]. The study population included 46 to 55 year old women with hot flush who had lack of menstruation and reached menopause for at least 1 year. Sampling method was blocked randomization and the patients were divided into four groups including fluoxetine, citalopram, hormone therapy and placebo groups. The collected data were introduced into the SPSS software and analyzed by chi-square, ANOVA and Kruskal-Wallis tests. There were no significant differences between the groups in the mean duration of menopause, history of any chronic disease, drug use and frequency of hypertension before intervention [p<0.05]. But there was significant differences between the values of the mean age of the groups before intervention [P=0.03]. The mean frequency of hot flushes decreased by 57%, 74.7%, 81.8% and 80% after intervention in estrogen+progesterone, fluoxetine, citalopram and placebo groups respectively [P<0.001]. Considering the high rate of success of the treatment of the hot flushes with citalopram and fluoxetine and few side effects of these drugs, they can be regarded as good alternatives to hormone therapy and for thoese who are not willing to take estrogen

Efficacy and safety of lamotrigine in lennox - gastaut syndrome

The Lennox-Gastaut syndrome [LGS], one of the most difficult epilepsy syndromes to treat, is characterized by a triad of intractable seizures of various types, a slow [< 2.5-hertz] spike-wave pattern in EEG and mental retardation. The aim of this study was to evaluate the efficacy and safety of lamotrigine as add-on therapy in intractable epilepsy of children with LGS. In a quasi- experimental study, 40 children with LGS referred to the pediatric neurology clinic of Shaheed Sadoughi Hospital in Yazd, between August 2007 and to November 2008, were evaluated. Twenty-two boys and 18 girls with a mean age of 4.12 +/- 1.8 years were evaluated. At the end of three months of treatment with lamotrigine, 12% were seizure free, 52% had> 50% reduction in seizure frequency and 12% had increase in seizures. Means of seizure frequency/per week, before and after treatment were 70 [range 1-180] and 18.6 [range 0-60] respectively, indicating effectiveness of the drug in seizure reduction [P value = 0.003]. The drug was effective in 72% of mixed type seizures, 40% of generalized tonic-clonic and 33% of drop attack and tonic seizures. Transient side effects were seen in 12.5% [drowsiness in 3 and ataxia in 2 children]. No serious side effects were seen. Lamotrigine should be considered as an add-on therapy in management of intractable epilepsy in LGS

Utility of laboratory studies in seizures of children older than one month of age

<p><b>INTRODUCTION</b>Seizure is the most common paediatric neurological disease which occurs in ten percent of children. In approaching a convulsive patient, finding the causes of seizure is essential, and the patient's history as well as the physical examination are important. The role of routine laboratory tests for children's seizures (except neonates) is undetermined, but checking for serum sodium, glucose, calcium and urea routinely has been advised. The purpose of this study was to determine the diagnostic efficacy of these serum chemistry tests in the seizures of children older than one month of age.</p><p><b>METHODS</b>In this descriptive, retrospective study, medical records of 302 hospitalised children with seizure were reviewed. Results of laboratory tests, like sodium, calcium, blood glucose and urea levels, pertinent history and physical examination, and the change in patient management based on serum chemistry test results, were analysed. All the children in the study were classified as having seizure with or without fever.</p><p><b>RESULTS</b>In 302 hospitalised children with seizure, about ten percent of 938 tests were abnormal. 27.7 percent of these abnormal results were seen in 1-12-month-old infants. Only 11 percent of abnormal tests (1.3 percent of total tests) might have caused a seizure. Also, 0.2 percent of the results could not be predicted from the history or physical examination, which was conducted in patients younger than one year of age.</p><p><b>CONCLUSION</b>Routine determination of serum chemistry values in seizures of children does not contribute to therapy, and are costly and time-consuming. It may not be helpful and informative unless the patient is less than one year of age.</p>

Prevalence of attention deficit hyperactivity disorder in 6 year olds of Yazd city

Attention Deficit hyperactivity Disorder [ADHD] is the most common psychiatric disorder in school age children and has a negative effect on the individual's general functions. The purpose of this study was to estimate the prevalence of ADHD in preschool 6 year old children in Yazd in 2005 and the influence of gender, birth weight, birth order and parental education on ADHD. 400 preschool children including 200 boys and 200 girls were selected randomly through sampling method and the data of the cross sectional research was collected via compiled questionnaires based on the DSM-IV criteria and interview of parents. Data of this investigation was analyzed and evaluated using SPSS: 11.5 software. The results showed that general prevalence of ADHD was 16/3% and more in boys [19/5%] than girls [13%]. Most of the parents of the affected children were illiterate or uneducated. There was no statistically significant relationship between gender, birth weight, order and ADHD frequency. In view of the high prevalence of ADHD among children in Yazd and its undesirable outcome, it is recommended to have a preventive mental health program for screening and treatment

Relationship between para clinical findings of first seizure and one year recurrence ra te in children admitted at shaheed Sadoughi hospital-Yazd

Seizure is the most common pediatric neurology problem that occurs in 10% of children. The purpose of this study was to determine the recurrence rate of seizures after one year and its relationship with paraclinical findings of the first attack. In a historical cohort analytic study, 131 children with first seizure admitted to Shaheed Sadoughi Hospital between March 2004 to August 2005 were evaluated for recurrence rate during one year and its relationship with serum levels of sodium, potassium, glucose, calcium, Hb, MCV and PMN during the first attack. 79.4% of cases were in febrile seizure group and 20.6% in first unprovoked seizure group [FUS].Of the total, 27.84% of patients had seizure recurrence [27.9% in febrile and 25.9% in afebrile group]. Mean survival recurrence rate was 10.11 +/- 0.32 SD months [10.25 +/- 0.33 SD months in febrile group and 9.57 +/- 0.83 SD months in FUS]. Survival analysis showed that seizures recurred later in older patients. Younger age and lower Hb levels in the febrile seizure group and lower MCV in the FUS group were associated with an increased risk of recurrence. In this study, anemia and microcytic RBC were risk factors for seizure recurrence. Therefore, more studies should be done so as to decrease seizure recurrence by treating and preventing anemia

Analgesic effects of glucose and water in neonates

Several methods have been used to relieve pain in neonates. The objective of this study was to assess the analgesic effect of 50% glucose and water during hepatitis B vaccination. In this randomized controlled trial, 90 term neonates were studied. Infants were randomly assigned to one of the three equal sized groups. First, heart rates were measured by EKG monitor. Then, 2mL of either 50% glucose or sterile water was administered into the mouths of infants in groups one and two, respectively. No intervention was done for group three. During vaccination until three minutes after, crying of babies was taped. Heart rates were measured during injection until 60 seconds. Mean values of duration of crying for glucose, water, and no intervention groups were 21.1 s, 33.3 s, and 56.9 s, respectively, which were significantly different [P= 0.0003]. Post hoc test revealed substantial differences between groups one and three [P= 0.0001] and between groups two and three [P= 0.006]. However, groups one and two were not statistically different [P= 0.19]. Moreover, heart rate did not rise significantly in any of those groups. Both 50% glucose and water showed analgesic effects in neonates

[Comparing the antipyretic effectiveness of oral and rectal acetaminophen in children]

Introduction: Acetaminophen is the most commonly used drug for temperature reduction in febrile children, which is used orally or rectally. The effectiveness of rectal versus oral Acetaminophen is not well established

Objective: This study is designed to compare the antipyretic effectiveness of rectal acetaminophen dose 15mg/kg to the standard oral dose of 15mg/kg

Materials and Methods: A randomized clinical trial was performed on 60 patients aged 6 months to 6 years with fever>/=39 rectally. The patients were randomly assigned in one of two groups. First 39[degree]c group received 15mg/kg Acetaminophen rectally and the second group received same dose orally and their body temperature was measured one and three hours after Acetaminophen administration

Results: The mean temperature reduction, 60 and 180 minutes after use of acetaminophen were 1.07 +/- 0.16 and 1.74 +/- 0.25

Conclusion: Effectiveness of oral and rectal Acetaminophen with 15mg/kg dose is similar in decreasing children's fever. Standard [15mg/kg] oral and [15mg/kg] rectal acetaminophen has similar antipyretic effectiveness

Comparison of the efficacy of oral [10 and15 mg/kg] and rectal [15 mg/kg] acetaminophen in fever reduction in children

Fever is the most common symptom of patients referring to pediatrics clinics. The first choice for antipyretic medication is acetaminophen with dosage of 10-15 mg/kg every 4-6 hours. We compared the efficacy of oral [10 and 15 mg/kg] and rectal [15 mg/kg] acetaminophen in fever reduction in children. A randomized, controlled trial was performed in 90 patients aged between 6 months and 6 years with fever >/= 39°Celsius. The patients were divided into three groups; Group 1 administerd rectal acetaminophen 15mg/kg, Group 2 oral Acetaminophen 15 mg/kg and Group 3 oral acetaminophen l0mg/kg. The results at the end of the first and third hour were assessed. The rate of temperature reduction at the end of the first and third hour in the group receiving rectal acetaminophen [15mg/kg] was 1.07 +/- 0.16 and 1/74 +/- 0.25, respectively. The rate of temperature at the end of the first and third hour in the group receiving oral acetaminophen [15mg/kg] was 0.98 +/- 0.19 and 1.25 and 1.7 +/- 0.14, respectively. The rate of temperature reduction at the end of the first and third hour in the group receiving oral acetaminophen [10mg/kg] was 0.63 +/- 0.18 and 1.25 +/- 0.22, respectively. There was no significant difference in temperature reduction between the groups receiving oral [15mg/kg] and rectal acetaminophen, but oral acetaminophen [10 mg/kg] was less effective in temperature reduction