[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

Evaluation of blood utilization in teaching hospitals affiliated to Qom university

Nowadays the performance of hospital blood banks is assessed by cross-match to transfused unit ratio which it is recommended to be less than 2.0. The aim of this study was to evaluate the most common indications for blood transfusion in Qum University hospitals. In this retrospective study 4370 blood order forms from March 2010 till April 201 1 were assessed. To calculate C/T ratio, the number of cross-matched units was divided by the number of transfused units. Of total 4370 blood order, 57.1% were male. From all blood order forms, 16.42% [C/T: 1.196] were / not transfused. The highest rate of blood orders pertained to surgery emergency and trauma [23.3%], hematology and oncology [14%], gynecology [11.3%], internal ward and nephrology [8%], infectious ward [6.9%], burn ward [5.9%], general surgery [4.4%], orthopedics [3.2%], ICU [2.3%] and pediatrics [8.6%] Packed cell was the product with the highest order rate of 78.7% in Qom teaching hospitals; however, out of this rate 44% remained untransfused. According to the findings of this study the rate of non-transfused ordered blood components in Qom teaching hospitals seems very high. Thus, it is recommended to employ the international and/or national guidelines in order to reach to optimal rate

[Evaluation of response to treatment with polycitra-K in urolithiasis of children]

Development of stone depends on certain physicochemical factors. Several treatment methods including increased fluid intake and dietary modification, medical therapies such as potassium citrate and use of extracorporeal shock wave lithotripsy [ESWL] and finally surgery methods are used for treatment of urolithiasis. The aim of this study was to evaluate the level of response to medical therapy with polycitra-K in children with urolithiasis. The study population comprised all patients less than 14 years old with urolithiasis visited at Mofid and Labafi Nejad hospitals within the last five years. All patients with an initial ultrasonography showing stone in urinary tract. At the end of study, the complete resolution or passage or a decrease in the size of stone in later sonography was defined as response to treatment. From 109 patients, 91 cases continued medical therapy with polycitra-k and 51 patients [56%] responded to treatment. Hypercalciuria and hyperuricosuria were found to be the etiological factors in 25% and 19% of patients, respectively. The stone analysis revealed that 50% were composed of ca-oxalate. Stone disease was more common between the ages 1-3 years and the most common complaint was hematuria [20%]. Calcium Oxalate stones were the most frequent stones which responded to polycitra. The response rate in girls and boys was similar and in different age groups it was almost equal. Based on the response rate of medical therapy with polycitra-k is recommended for treatment of urolithiasis in children

[Pseudotumor cerebri after kidney transplantation]

Pseudotumor cerebri is defined by the increase of intracranial pressure. It has different atiologies but, many of its causes are idiopathic and typically present on young obese females. Cerebrospinal fluid [CSF] analysis was normal in this case study and there was no evidence of intracranial mass, venous sinus thrombosis, or obstruction in CSF stream. In this study, we have reported a case of Pseudotumor cerebri presented 7 years after a successful kidney transplant, under treatment by Cyclosporine, Methylprednisolon and Azathioprine[AZT]. The patient was a 17-year old obese female with a body mass index of 30kg/m2 having Pseudotumor cerebri 7 years after a successful kidney transplant. Brain imaging like CT scan and MRA [Magnetic Resonance Angiography] were normal. CSF analysis was normal, but the increase in CSF pressure had been detected. Repetitive lumber punctures were performed with simultaneous Acetazolamid administration. But her headaches were treated even after the continuation of Cyclosporine and Methylprednisolon, anemia, and renal failure. For patients with kidney transplant and headaches, it is necessary to rule out Pseudotumor cerebri as a differential diagnosis. Neurotoxicity of Cyclosporine is not rare and we have to pay close attention to neurologic side effect of this drug as well. After diagnosing Pseudotumor cerebri in such patients, it is necessary to limit the progression of symptoms and avoid the decrease in patient's visual acuity

[Spontaneous resolution of vesicoureteral reflux [VUR] in Iranian children, a single center experience in 533 cases]

Experience with vesicoureteral reflux [VUR] differs in different centers and there are lots of controversies surrounding this issue. The aim of this study was to evaluate Spontaneous resolution and prognosis of the disease among Iranian children. In this case series study, 1278 children with urinary tract infection and visited at pediatric nephrology clinic in Tehran, Iran during 1999-2007 were studied. Primary VUR was found in 533 Patients. Following the diagnosis, the patients received prophylactic antibiotic and were annually followed with radionucleo cystography [RNC]. Patients underwent surgery in case the medical treatment failed [breakthrough infection] or new renal scar formation. 533 patients with VUR were studied. Patients' mean age with VUR was 3.7 +/- 2.4 years [range: 2 days to 18 years old]. During an average follow-up duration of 3.3 +/- 2.2 years, spontaneous resolution was observed in 40% of 279 patients who had follow-up RNCs. The mean interval between VUR diagnosis and spontaneous resolution was 1.5 +/- 1 years [range: 2 months to 6 years]. The resolution rate was decreased with increment of reflux grade so that for grades I to V, VUR was resolved in 63%, 57%, 27%, 22% and 10% of the cases, respectively. Anti reflux surgery was performed in 27[10%] of patients during follow-up. Based on the excellent results obtained from clinical therapy using low dose antibiotics, it is recommended that VUR grades 1 to 4 be managed medically with low-dose oral antibiotic prophylaxis and close follow-ups

Relationship between antimicrobial therapy and scar formation in urinary tract infection in children

Urinary infection is known as one of the most common bacterial infection in children. Punctual diagnosis and treatment along with the diagnosis of risk factors and long-term follow-up of the patients suffering from urinary infection are the most important factors in order to prevent scar formation in kidneys. This study was carried out in order to analyze time difference among symptoms onset and the start of urinary infection treatment and it has relation with scar formation in kidneys. This study was done by [Historical cohort] method on 120 patients they were divided into 2 groups of 60. The treatment was started on time for the first group but for the second with delay. All of the patient suffered from urinary infection and they were DMSA scaned after six months. The scar formation amount in kidneys was compared in two groups and the results were analyzed by SPSS software. The result showed that 75% of the girls and 25% of the boys out of 120 infected children, suffered from urinary infection. No obvious relation between the scar formation appearance, parents social level and children genders was found. A meaningful relation was found between treatment delay and scar formation in kidney due to urinary infection [RR= 3, CI = 1.4 - 6.5]. The Minimum And Maximum delay time in this treatment were 1 and 21 days respectively. The average of delay time between symptoms onset and treatment start has been 4.8 days. Based on this research, the delay time in treatment more than 6 days may cause kidney scar formation twice as much [RR=2.15, CI=1.1- 4.6]. Scar formation risk increase with delay in antimicrobial therapy in UTI. It is strongly recommended to diagnose and begin the treatment as soon as possible to prevent kidney damage properly