Tehran University Medical Journal

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Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 Background: Cystic fibrosis is a monogenic recessive disorder founds predominantly in caucasian population causes exocrine glands function defect. This disease arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Because of heterogeneity of the mutations in CFTR gene, phenotypic symptoms in this disease are very variable. In this study we consider poly T polymorphism (T₅, T₇, T₉) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis patients in mazandaran province.
Methods: Forty cases of cystic fibrosis patients and 40 normal individuals were screened for poly T polymorphism in intron 8 of CFTR gene using Reverse Dot Blot method.
Results: T₇ allele is the most prevalent in normal individuals and CF patients and it's abundance is approximately 75%. T₉ and T₅ represent approximately 20% and 5% of normal or mutant alleles respectively. T₇/T₇ genotypes in normal individuals and CF patients are the most prevalent with 72.5% and 60% prevalence rate, respectively. T₅/T₉ and T₅/T₅ genotypes were not found. 22.5% of normal individuals and 30% of CF patients had heterozygote genotypes.
Conclusion: The abundance of T₅, T₇, T₉ alleles and the presence of 22.5-30% heterozygote genotypes in normal individuals and CF patients indicates that poly T polymorphism in intron 8 of CFTR gene can be used as a marker for detection of normal and mutant alleles in prenatal diagnosis or can be used in carrier assessment in families with previous history of the disease.

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800x600 Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 Background: Diabetes insipidus is a rare disease which can be considered as a part of broad spectrum of preeclampsia manifestations.
Case presentation : A 39-year old primigravid woman, with an unremarkable past medical history, was admitted in the 33rd week of gestation for elevated blood pressure. On admission, her blood pressure was 140/90 mmHg and the only abnormal laboratory findings were trace proteinuria and elevated liver enzymes. During the following days her blood pressure rose to 150/100 mmHg with deterioration of clinical and paraclinical status of the patient characterized by excessive thirst, polydipsia and excretion of large amounts of diluted urine. Having considered the patient's aggravating status, termination of pregnancy was planned. Fortunately, all the clinical and paraclinical presentations, including those related to the probable diabetes insipidus disappeared on the second day of postpartum period.
Conclusion: Sign and symptoms of diabetes insipidus should be considered in all cases admitted for preeclampsia.

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Background: Cystic fibrosis (CF) is a multiorgan autosomal recessive disorder. As CF is highly heterogeneous in Iran and many mutations have a low frequency, routine molecular diagnostic methods are not very efficient. The use of highly polymorphic intragenic markers not only can facilitate phenotype prediction in prenatal diagnosis by gene tracking, but also can lead to the demonstration of possible associations between haplotypes and specific mutations. We determined IVS8 polyT and M470V polymorphisms in exon 10 of CFTR gene in this case-control study.

Methods: Polymorphisms of IVS8 polyT in 53 patients with CF were referred to Amirkola children's Hospital of Babol University of Medical Sciences, 2007 to 2011 and 49 fertile healthy individuals were determined by reverse dot blot method. M470V polymorphism was analyzed by PCR-RFLP.

Results: In IVS8 polyT study, T7 was the most frequent allele in healthy individuals than patients with CF (respectively, 82.8% Vs. 77.2%). T9 was more abundant in patients with CF than normal individuals (respectively, 21.7% Vs. 7.4%, P=0.005). T9/T9 genotype was more frequent in patients than healthy individuals (respectively, 15.1% and 2%, P=0.032). Study for M470V polymorphism showed that M/V was the most common genotype in normal individuals and patients with CF (respectively, 49% and 40.4%). M-T9 haplotype was highly associated with the disease in both patients with CF and normal individuals (respectively, 19.1% and 2.4%, (P<0.001)

Conclusion: The allelic distribution and heterozygosity results suggest that both M470V and IVS8 polyT can be helpful in the prenatal diagnosis of CF in Northern Iranians with a positive family history of the disease.

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Background: Acquired paralysis of the diaphragm is a condition caused by trauma, surgical injuries, (lung cancer surgery, esophageal surgery, cardiac surgery, thoracic surgery), and is sometimes of an unknown etiology. It can lead to dyspnea and can affect ventilatory function and patients activity. Diaphragmatic plication is a treatment method which decreases inconsistent function of diaphragm. The aim of this study is to evaluate the outcome of diaphragmatic plication in patients with acquired unilateral non-malignant diaphragmatic paralysis. Methods: From 1991 to 2011, 20 patients with acquired unilateral diaphragmatic paralysis who underwent surgery enrolled in our study in Ghaem Hospital Mashhad University of Medical Science. Patients were evaluated in terms of age, sex, BMI, clinical symptoms, dyspnea score (DS), etiology of paralysis, diagnostic methods, respiratory function tests and complication of surgery. Some tests including dyspnea score were carried out again six months after surgery. We evaluated patients with SPSS version 11.5 and Paired t-test or nonparametric equivalent. Results: Twenty patients enrolled in our study. 14 were male and 6 were female. The mean age was 58 years and the average time interval between diagnosis to surgical treatment was 38.3 months. Acquired diaphragmatic paralysis was mostly caused by trauma (in 11 patients) and almost occurred on the left side (in 15 patients). Diagnostic methods included chest x-ray, CT scan, ultrasonography and sniff. Test prior to surgery the average FVC was 41.4±7 percent and the average FEV1 was 52.4±6 percent and after surgery they were 80.1±8.6 percent and 74.4±1 percent respectively. The average increase in FEV1 and FVC 63.4±4, 61.1±7.8. Performing surgery also leads to a noticeable improvement in dyspnea score in our study. Conclusion: In patients with acquired unilateral non-malignant diaphragm paralysis diaphragmatic plication is highly recommended due to the remarkable improvement in respiratory function tests and dyspnea score without mortality and acceptable morbidity.