Showing 5 results for Cystic Fibrosis
Haleh Akhavan Niaki, Reza Tabaripour, Mohammad Reza Esmaeeli Douki, Mandana Azizi, Javad Tavakoli Bazzaz, Bagher Larijani,
Volume 68, Issue 1 (4-2010)
Abstract
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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.
Kholghi Oskooei Vahid , Esmaeeli Douki Mohammad Reza, Tabaripour Reza , Pourbagher Roghieh, Tavakkoly Bazzaz Javad , Larijani Bagher , Akhavan-Niaki Haleh ,
Volume 69, Issue 12 (3-2012)
Abstract
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.
Mohammad Mehdi Soltan Dallal, Celin Telefian , Massoud Hajia , Enayat Kalantar , Ali Reza Dolatyar Dehkhar-Ghani, Abbas Rahimi Forushani Rahimi Forushani , Qamartaj Khanbabaei , Mandana Mobarhan , Marjan Farzami ,
Volume 72, Issue 2 (5-2014)
Abstract
Background: Complex of Burkholderia cepacia is one of the main and serious causes of infections in cystic fibrosis patients that can be highly transmissible. Small hospital outbreaks are frequent and are usually due to a single contaminated environmental source. The pulsed-field gel electrophoresis (PFGE) is widely used to identify the strain emission sources in cystic fibrosis patients. The aim of this research was to study genotyping of Burkholderia cepacia using PFGE method, and to evaluate diversity complex of clinical strains isolated from cystic fibrosis patients.
Methods: This is a descriptive study, in which 100 pulmonary secretion specimens of cystic fibrosis patients admitted in Masih Daneshvari Hospital, Tehran Iran in period of 12 months 2012 to 2013 were collected. The specimens were cultured on BCSA plate’s. After incubation suspected colonies were isolated and identified by biochemical and phenotypic method. All samples were checked by API system (API20NE) and by specific PCR method for genus Bulkhorderia and Bcc as well. DNA was extracted by alkaline lysis method and confirmed by PCR analysis of recA genes. Genetic diversity of isolate was performed by PFGE analysis according to Pulsenet guideline by using XbaI, SpeI as restriction enzyme which digests infrequently among the Burkholderia cepacia genome.
Results: Out of 100 samples five were identified as Burkholderia cepacia. It is obviously different at variously reports. The electrophoresis data of PCR products and comparison of band in samples from patients with standard strain ATCC 25416 Burkholderia cepacia and compare and analyse the PFGE size marker bands of Salmonella choleransuis serotype Braenderup H9812 strain, were the same.
Conclusion: Application of PFGE and identification of pulse-type is a potential tool to enhance the investigation of apparent nosocomial outbreaks of B.cepacia. Similar type of pulse patterns was observed in this study means that all of infection has been from one source therefore the hypothesis of transferring person to person will be rejected. Base on these results environmental sources sampling should be considered in future investigation.
Mohammad Sadra Modaresi , Arta Amir Jamshidi , Mohammad Reza Modaresi ,
Volume 78, Issue 8 (11-2020)
Abstract
| Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the main reason for mortality in these patients. About 2000 mutations in this gene have been discovered, but nearly 150 mutations lead to serious symptoms. CFTR mutations are classified into six major classes based on phenotypic manifestations such as structural instability of channels, defective processing, malfunctioning chloride-ion transfers and decreased number of chloride channels in the cell membranes. These cause various symptoms such as respiratory infection, intestinal obstruction, pancreatic exocrine insufficiency and malabsorption. Significant improvements in diagnostic tools and methods such as newborn screening, chloride sweat test and gene sequencing have increased the incidence and the prevalence of CF. Enormous studies have also been done on CF recognition and treatment procedures, which have resulted in 30 years of growth in the life expectancy of the patients. Despite the recent achievements, due to the high complexity of this disease and the involvement of various organs, the available treatments are nonpermanent. In the past few years, new combinatorial drugs have been introduced which potentiate and correct CFTR and ameliorate the CF symptoms. Recently, novel genetic engineering methods like CRISPR/Cas9 and TALEN have been utilized to correct the mutated CFTR gene with high accuracy and eradicate the symptoms. Studying this disease at its distinct levels from subcellular to organs could help to find new treatments. Systematic research in finding common attributes between different states of the disease is very beneficial. Interdisciplinary research groups with various expertise in mathematics, biology and engineering could have a great impact on describing the full picture of the disease and development of new treatment strategies. The main part of this article provides a comprehensive overview of cystic fibrosis with emphasis on the key studies on genetics and their effects on cellular and physiological levels. In this work, conventional and new treatment methods have also been discussed. |
Hamid Arshadi, Pooya Hekmati, Hojatollah Raji, Mohammad Vasei , Mehrzad Mehdizadeh,
Volume 80, Issue 1 (4-2022)
Abstract
Background: Appendicovesical fistula in patients suffering from cystic fibrosis is a rare condition. Although this situation is so rare it should be considered in the differential diagnosis, dealing with a patient with cystic fibrosis and chronic abdominal pain with no response to primary management. To the best of our knowledge, this is the third case of appendicovesical fistula in a patient with cystic fibrosis.
Case presentation: In this paper, we are reporting a bladder lesion of a nine-year-old Iranian girl, a known case of cystic fibrosis, who was referred to pediatric urology clinic, Children’s Medical Center, Tehran University of Medical Sciences. The girl is a known case of cystic fibrosis on regular follow-up who had chronic abdominal pain for about one year. While primary management had been failed for her, further workups were done by her pediatric pulmonologist. In her pelvic sonography, the radiologist reported a bladder lesion so she was referred to our clinic. Cystoscopy was done for her, but transurethral biopsy/resection was impossible according to the lesion location. The non-papillary nature of the lesion raised our concern about the possibility of genital rhabdomyosarcoma with bladder invasion. So, an Abdominopelvic CT scan and a pelvic MRI were also done for her. Intact uterus and vagina with an enhancing lesion at the dome of the bladder with some degree of inflammation/attachment around the adjacent GI tract were detected on her images. The urachal inflammatory/tumoral process could not be ruled out. So open surgical exploration was planned. During the attempt for surgical exploration and partial cystectomy, at the Children’s Medical Center in December 2021, we found that the mass, is actually her appendix which has invaded the urinary bladder, and presented as a bladder lesion.
Conclusion: Abdominal pain is a relatively common complaint of patients with cystic fibrosis. Every caregiver or physician should consider rare conditions, dealing with a cystic fibrosis patient whose abdominal pain does not respond to common management.
