Persistent reduction in the age adjusted mortality rate from aortic valve surgery in the United State with elimination of gender gap in recent years.

BACKGROUND: Advancement in the surgical techniques should translate into better outcome. The goal of this study was to evaluate mortality trends from aortic valve surgery in the United State using large inpatient database. METHOD: The Nationwide Inpatient Sample (NIS) database was used to calculate the age-adjusted mortality rate from aortic valve surgery from 1988 to 2011 in the United State using ICD-9 coding for aortic valve surgery. RESULTS: We found that age adjusted mortality rate from aortic valve surgery gradually decreased from 1988 until end of study in 2011 to the lowest level with elimination of gender gap that was seen in the early years. For men, age adjusted mortality rate from aortic valve surgery in 1988 was 438 per 100,000 with steady reduction to the lowest level of 214 per 100,000 in 2011 which remained unchanged from 2007. For women, age adjusted mortality from aortic valve surgery was 620 per 100,000 in 1988 with steady reduction to the lowest level of 235 per 100,000 in 2011 which also remained unchanged since 2007. CONCLUSION: Age adjusted mortality from aortic valve surgery has been gradually decreasing in the last decade and remained stable at the lowest rates in recent years suggesting improvement in surgical technics and post-surgical care

A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients

The common form of autosomal recessive non-syndromic deafness is caused by the mutation in gap junction beta 2 (GJB2) gene (GenBank M86849, OMIM# 121011) which is located at the DFNB1 locus at 13q11. GJB2 is a small gene about 5500-bp length with two exons, of which only one contains the coding region (Kelley et al. 2000). The sequence of the coding region consists of 681 bp, encoding a gap-junction protein with 226 amino acids (Schrijver 2004). The genetics of hearing loss is highly heterogeneous and more than 100 mutations in connexin 26 (GJB2) genes are reported to be responsible for 30%–40% of hereditary hearing loss in deaf subjects (Ballana et al. 2001; Schrijver 2004). The most frequent mutation 35delG has been detected in different populations; especially in European countries where it is established to be due to founder effect (Van Laer et al. 2001; Rothrock et al. 2003). In this study, we performed mutation screening in 33 families who met clinical criteria of non-syndromic hereditary hearing loss (NSHHL) to evaluate the type and frequency of GJB2 mutations in Iranian population

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran.

BACKGROUND Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. MATERIALS AND METHODS We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ≤50 years) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. RESULTS Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ≤50 years at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic- cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). CONCLUSIONS Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families

Tumor microsatellite instability and clinicopathologic features in Iranian colorectal cancer patients at risk for Lynch syndrome

Background: Microsatellite instability (MSI) is a mutational signature that is the hallmark of Lynch syndrome, and MSI testing is a cost-effective method to screen the disease. Since there is no enough data about MSI status and associated clinicopathologic features of hereditary nonpolyposis colorectal cancer (HNPCC) in Iran, our study is a new trial to describe them in center of Iran (Isfahan). Materials and Methods: It is a descriptive retrospective study to screen HNPCC families using Amsterdam II criteria in Central Iran within 2000-2013. For MSI testing, we used a commercially available kit evaluating mononucleotide markers (BAT25, BAT-26, MON0-27, NR-21 and NR-24). After a fluorescent multiplex polymerase chain reaction amplification of the markers, samples were sequenced to fragment analysis. Data analysis was performed using SPSS 16 software (SPSS Inc., Chicago, IL, USA). Results: Overall, 31 of 45 screened HNPCC families were eventually included to MSI testing. Totally, 9/31 patients (29.0%) showed MSI in their tumor tissues. BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%). The mean age at diagnosis in microsatellite stable (MSS), MSI-Low (MSI-L), and MSI-High (MSI-H) probands was respectively 44.7 (standard deviation SD] = 11.83), 51.7 (SD = 16.17), and 36.0 (SD = 3.41) years. The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (similar to 72.8%), rectum (66.7%) and right colon (50.0%), respectively. Of 186 cancer patients among 31 HNPCC families, 86 patients (46.2%) had colorectal cancer (CRC) and 100 patients (53.8%) had extracolonic cancers. The average of CRC affected members among MSS, MSI-L, and MSI-H groups of our HNPCC families was 2.2 (SD = 1.30), 3.3 (SD = 3.21), and 4.7 (SD = 2.42) patients per family, respectively. Stomach with 18.3% and 26.7% of all extracolonic cancers were most common involved organ in MSS and MSI-H families, respectively. Conclusion: Our different molecular results could be suggested to describe HNPCC families based on some new molecular mechanisms leading to MSS HNPCC phenotypes. Meanwhile, more evaluations within our population are recommended

Frequency of the common mitochondrial DNA (mtDNA) mutations in non-syndromic hearing impairment in southwest subpopulations of Iran

زمینه و هدف: اگرچه اکثر ناشنوایی های غیر سندرومی ارثی به علت جهش در ژن های هسته ای می باشند، در سال های اخیر مشارکت مهم جهش های DNA میتوکندریایی (mtDNA) واضح تر شده است. مطالعه حاضر با هدف غربالگری جهش های شایع mtDNA شامل A1555G، C1494T، A3243G و A7445G در ناشنوایان اکتسابی و غیرسندرومی مغلوب اتوزومی پیش از زبان باز کردن در استان چهارمحال و بختیاری و ناشنوایان غیرسندرومی پس از زبان باز کردن در استان بوشهر انجام شده است. روش بررسی: در این مطالعه توصیفی-آزمایشگاهی 150 ناشنوای اکتسابی و مغلوب اتوزومی پیش از زبان باز کردن از استان چهارمحال و بختیاری و 46 پروباند غیر خویشاوند با ناشنوایی غیرسندرومی پس از زبان باز کردن از استان بوشهر (با نتیجه منفی برای جهش های GJB2) به روش آسان انتخاب شدند. نمونه ها با روش PCR –RFLP برای جهش های شایع mtDNA غربالگری شدند. جهش های مشاهده شده، برای تایید تعیین توالی گردیدند. یافته ها: هیچکدام از جهش ها در ناشنوایان اکتسابی و غیرسندرومی مغلوب اتوزومی پیش از زبان باز کردن در استان چهارمحال و بختیاری یافت نشدند، لیکن جهشA1555G با فراوانی 35/4 در ناشنوایان غیر سندرومی پس از زبان باز کردن در استان بوشهر مشاهده شد. نتیجه گیری: این بررسی نشان می دهد که جهش های میتوکندریایی نقش برجسته تری در منشاء ناشنوایی غیر سندرومی پس از زبان باز کردن در مقایسه با پیش از زبان باز کردن در جمعیت مورد مطالعه را ایفاء می کنند

Mutation in second exon of myo15a gene cause of nonsyndromic hearing loss and its association in the Arab population in Iran

Hearing loss is a genetically and clinically heterogeneous defect and more than 140 loci and 65 genes have been identified to cause autosomal recessive non-syndromic hearing loss (ARNSHL). According to the previous studies, mutations in GJB2 are estimated to be involved in 18.17% of ARNSHL cases in the Iranian population; as a result, the remaining 81.83% of this disorder is yet ambiguous. This study aimed to determine the contribution of DFNB3 in hearing loss as well as the frequency of gene mutations in a population (Arab tribal origin) in the Southwest of Iran. In this descriptive laboratory study, we included 25 families from the Southwest of Iran and negative GJB2 gene. Linkage analysis was performed by DFNB3 (MYO15A) molecular markers (STR). The families with hearing loss linked to this locus were further analyzed for mutation detection. MYO15A gene exons were amplified and analyzed using direct DNA sequencing. In studied families, one family displayed linkage to DFNB3 locus. Identified mutations include substitution and substitute C for A in 1047 location of coding region of MYO15A gene (c.1047 C > A) in exon 2 which cause to change Tyrosin to stop codons (P.Y349X), results in the premature truncation at amino acid position 349

Investigation on the deletion and duplication of PMP22 gene in patients with Charcot-Marie-Tooth using Real-time PCR in Chaharmahal and Bakhtiari and Isfahan Provinces

Background and aims: Charcot-Marie-Tooth (CMT) is a common sensory-motor polyneuropathy with a prevalence of 1/2500. It is divided into different subgroups and has various hereditary patterns. Among the different subgroups of CMT, type 1A is the most prevalent form of the disease, which is created due to the duplication of the PMP22 gene. In patients has a deletion in the PMP22 gene, the hereditary neuropathic disease is known to be liable to pressure. The aim of this study was to identify the patients affected by the disease with the new, simple, and fast qPCR method and to investigate the appropriateness of this method in evaluating these types of mutations. Methods: In this analytical-descriptive study (code:IR.SKUMS.REC.1394.152), gene duplication and deletion in the patients were studied using the Excel software. The blood samples of 15 families afflicted with CMT and 49 healthy individuals were collected in EDTA anticoagulant tubes and analyzed. DNA extraction and quantitative real-time PCR method were applied for the PMP22 gene as the target gene and the albumin gene as the internal control gene. Results: Two genes were compared in each patient, and it was found that 46% of the subjects had duplication in the PMP22 gene. Conclusion: The qPCR method is an easy and fast way to detect gene duplication and deletion in CMT patients. It does not require any statistical software and can be performed without needing for parental DNA. In addition, the results of this study are consistent with the results of various studies in some countries of the world where the highest levels of deletion and duplication in PMP22 gene are seen. Keywords: CMT1A, PMP22 gene, Quantitative real-time PC

Screening of Myo7A mutations in Iranian patients with autosomal recessive hearing loss from west of Iran

Hearing loss (HL) is the most frequent neurosensory impairment. HL is highly heterogeneous defect. This disorder affects 1 out of 500 newborns. This study aimed to determine the role of DFNB2 locus and frequency of MYO7A gene mutations in a population from west of Iran. Methods: Thirty families investigated in Shahrekord University of Medical Sciences in 2014, genetic linkage analysis via four short tandem repeat markers linked to MYO7A was performed for two consanguineous families originating from Hamedan (family-13) and Chaharmahal-Bakhtiari (family-32) provinces of Iran, co-segregating autosomal recessive HL and showed no mutation in GJB2 gene in our preliminary investigation. All 49 coding exons and exon- intron boundaries of the MYO7A gene were amplified by PCR and analyzed using direct DNA sequencing. Results: Two of families displayed linkage to DFNB2. Family-13 segregated a homozygous missense mutation (c.6487G>A) in exon 48 that results in a p.G2163S amino acid substitution in C-terminal domain of the myosin VIIA protein. While family-32 segregated a homozygous nonsense mutation (c.448 C>T) in exon five, resulting in a premature truncation at amino acid position 150 (p.Arg150X) in the motor domain of this protein. Conclusion: Mutation frequency of MYO7A gene in different populations of Iran as well as cause of HL in most cases are still unknown and more extensive studies have to be done. © 2017, Iranian Journal of Public Health. All rights reserved

Evaluation of Demineralized Freeze- Dried Bone in Augmentation of Buccal Defects during Implant Placement

Introduction: Bone thickness in the anterior of the maxilla is one of the major concerns for implant placement. The aim of the present study is to evaluate stability of demineralized freeze- dried bone (DFDB) graft for augmentation of buccal defects during implant placement at the anterior of the maxilla using cone-beam computed tomography (CBCT).Materials and Methods: The DFDB graft was used for augmentation of buccal defects during implant placement at the anterior of the maxilla. The amount of remnant DFDB was measured in three points: Coronal, middle and apical portion of the buccal sides of implants after one year. Results: Twenty-two samples were included in this study. All of the exposed implants were osseo-integrated. A significant difference was detected for remnant grafting bone in the coronal and apical portion of the implants between the central site and the lateral site (P&lt;0.05) without any difference in the middle portion. Analysis of data did not show any differences of remnant grafting bone thickness among one-third coronal ,one-third middle and one-third apical portion of the buccal sides of implants after one year (P&gt;0.05). Conclusion: DFDB could be used successfully for augmentation of buccal defects during implant placement. It is assumed that approximately 50% of DFDB is resorbed one year after grafting. The recipient site may influence the amount of resorption rate

Genetic linkage analysis of DFNB24 locus in a group of families with autosomal recessive non-syndromic hearing loss in Khouzestan province of Iran

زمینه و هدف: ناشنوایی رایج ترین اختلال حسی عصبی با بروز یک در هر هزار نوزاد می باشد. حدود 70 از موارد ژنتیکی ناشنوایی را موارد غیر سندرومی تشکیل می دهند. بیش از 100 لوکوس در ناشنوایی غیر سندرومی مغلوب اتوزومی(ARNSHL) درگیر می باشند. هدف از این مطالعه بررسی آنالیز پیوستگی به لوکوس DFNB24 (ژن رادیکسین) در خانواده های مبتلا به ARNSHL می باشد. روش بررسی: در این مطالعه توصیفی- آزمایشگاهی 400 نمونه از 25 خانواده مبتلا به ناشنوایی غیر سندرومی مغلوب اتوزومی با ازدواج خویشاوندی و دارای حداقل سه فرد ناشنوا، از استان خوزستان انتخاب شدند. در نهایت23 خانواده از نظر جهش در ژن GJB2 (لوکوس DFNB1) منفی گزارش و به مطالعه وارد شدند. شش نشانگر STR (Short Tandem Repeat) انتخاب شد و پس از انجام واکنش PCR، تعیین ژنوتیپ با استفاده از بررسی نمونه ها بر روی ژل پلی اکریل آمید، انجام شد. نرم افزارهایی همچون Easy Linkage، SimWalk و HaploPainter برای تجزیه و تحلیل ژنتیکی مورد بررسی قرار گرفت. یافته ها: در راستای بررسی پیوستگی لوکوس DFNB24 در جمعیت ناشنوایان استان خوزستان، نتایج مطالعه ما نشان داد که هیچ مورد پیوستگی بین لوکوس DFNB24 و ناشنوایی در هیچ یک از خانواده ها وجود ندارد. نتیجه گیری: نتایج مطالعه حاضر نشان از آن دارد که احتمالاً جهش های این ژن نقشی ناچیز در بروز ناشنوایی در جمعیت ناشنوای استان خوزستان دارد