Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.

Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T>C in the BBS5 gene for the first time in the Iranian family.

A Study of Corneal Biomechanics in Delayed-Onset Mustard Gas Keratopathy Compared to Cases With Corneal Scarring and Normal Corneas.

PURPOSE: This study compares the corneal biomechanical properties, as measured with Corvis ST, in three groups of cases with delayed-onset mustard gas keratopathy (DMGK), chronic corneal scarring (CCS), and those with normal corneas. METHODS: Forty-five eyes were enrolled in the DMGK, CCS, and normal groups (15 eyes each). All patients were examined with the slitlamp and Corvis ST. Extracted corneal biomechanical parameters included first and second applanation time (AT1, AT2), first and second applanation length (AL1, AL2), first and second applanation velocity (AV1, AV2), deformation amplitude (DA), highest concavity time, peak distance, highest concavity radius (HCR), central corneal thickness, corrected intraocular pressure (IOP), and noncorrected IOP. RESULTS: The mean age of the participants in the DMGK, CCS, and normal groups was 49.20±5.16, 60.40±22.92, and 44.60±8.32 years, respectively. Comparison between DMGK and CCS groups showed significant differences in AT1, AT2, corrected IOP, and noncorrected IOP. There were also significant differences in AT1, AT2, HCR, DA, and noncorrected IOP between the DMGK and normal groups. None of the parameters were significantly different between the CCS and normal groups. CONCLUSION: There seems to be reduced corneal rigidity and stiffness in cases exposed to mustard gas, which causes the cornea in the DMGK group to become applanated more easily and take longer to rebound compared with the other two groups. Also, IOP was lower than normal in the DMGK group, and thus, misdiagnosis of glaucoma is likely for these patients.

Excimer laser refractive surgery rate in Iran: 2010-2014.

PURPOSE: To determine the rate of excimer laser refractive surgery in Iran and its trend during 2010-2014, and the number of surgeries per ophthalmologist. METHODS: Twelve provinces were considered for the study; 4 major referral provinces of Tehran, Fars, Isfahan, and Khorasan, and 8 others which were selected randomly. Then a number of excimer laser centers were chosen from each province. In the timeframe between 2010 and 2014, one week per season was randomly selected for each center, and the number of surgeries conducted in these 20 weeks was determined by trained personnel. RESULTS: In the 12 surveyed provinces, 28 of the 57 active surgical centers were selected. The rate of excimer laser refractive surgery in 2010 in Iran was 2764 per million population which reached 3744 per million by 2012 and took a slightly decreasing trend to 3582 until 2014. Based on the number of ophthalmologists and the number of surgeries in 2014, the average number of surgeries per ophthalmologist was 103 surgeries. CONCLUSION: This is the first study to report the rate of excimer laser refractive surgery in Iran.

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.

Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)-interacting domain at the C-terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co-segregation  in this pedigree. This study provides compelling evidence that the c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA.

The Prevalence of Hearing Impairment by Age and Gender in a Population-based Study.

BACKGROUND: This study aimed to determine the prevalence of hearing impairment (HI) by age and gender in a population aged 5 yr and older residing in Tehran, Iran. METHODS: In this cross-sectional study, 140 clusters each including 10 households from Tehran, Iran were sampled between 2012 and 2013 using cluster random sampling. Trained audiologists examined the participants during face-to-face interviews. The hearing of the participants was evaluated before the removal of wax or other foreign bodies. In this study, HI was categorized as mild (grade 1, 26-40 db), moderate (grade 2, 41-60 db), severe (grade 3, 61-80 db), and deaf (grade 5, 81 db or more). All participants signed informed consent forms. The SATA software was used for data analysis. RESULTS: Of 6521 individuals, 4370 (67%) were interviewed. The prevalence of HI (auditory threshold of 0.5, 1, 2, 4 KHz and more than 25 db in the better ear) was 14.27 (11.53-17.91) of whom 9.52 (7.07-11.98) had grade 1, 4.04 (3.02-5.06) had grade 2, 0.67 (0.33-1.02) had grade 3 HI and 0.48 (0.16-0.8) were deaf. About 5.19% of the participants had disabling hearing impairment. All HI grades increased significantly with age but no significant difference was observed between men and women. CONCLUSION: The considerable prevalence of HI in Iran in comparison with other developing countries, with regards to the trend of aging in the population, seems concerning. The results of the study could be used as a treatment and research guideline for future works in the area of policymaking and plan to decrease these disorders.

Comparison of preoperative and postoperative intraocular lens power values in eyes with Keraring implantation / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate intraocular lens power (IOL) calculation and biometry before and 3mo after implantation of Keraring 355° intrastromal corneal ring segment (ICRS;Mediphacos, Belo Horizonte, Brazil) in keratoconic eyes.METHODS: In this cohort study, data of 19 keratoconus eyes of 18 patients which undergone ICRS implantations were gathered before and 3mo after surgery.Uncorrected visual acuity (UCVA), best corrected visual acuity (BCVA), manifest refraction, IOL power calculation formulas, axial lenght (AL) and keratometry were analayzed.RESULTS: Mean age of participants was 29.58±0.6.UCVA improved from 0.84 (0.35) logMAR to 0.43 (0.31) logMAR significantly (P<0.001).BCVA and AL didn`t change significantly after 3mo.All Sphere, cylinder and spherical equivalent (SE) were improved significantly (P<0.001).On the other hand, keratometry 1 (K1) and keratometry 2 (K2) decreased significantly.It was a considerable change in SRK/Ⅱ (P<0.001), Hoffer Q (P<0.001) and Holladay Ⅰ(P<0.001) after 3-month`s follow-up.Among this formula SRK/II had the lowest change.CONCLUSION: In addition to improvement in visual, refractive, and keratometry outcomes after Keraring implantation, there was a significantly changes in IOL calculation formulas values.However, ICRS procedure doesn`t interfere considerably AL in eyes, but it seems reduced keratometric values lead to IOL power calculations more accurately and all formulas suggested same IOL power.

Complications of Cataract Surgery in Iran: Trend from 2006 to 2010.

PURPOSE: To determine intraoperative complications of cataract surgery over the period 2006 to 2010. METHODS: In this cross-sectional study, 106 of 272 cataract surgical centers in Iran were selected through multistage random cluster sampling from all provinces. In each province, the selected number of centers was proportionate to the number of cataract surgeries, and in each center, the selected number of charts was proportionate to the center's number of cataract surgeries, from which we retrieved intraoperative complications. RESULTS: The prevalence of intraoperative complications of cataract surgery was 5.04% (95% confidence interval, CI, 3.53-6.54%) in 2006, which decreased significantly to 3.44% (95% CI 1.84-5.04%) in 2010. The most common complication was posterior capsular rupture/vitreous loss which decreased from 4.29% (95% CI 2.93-5.66%) in 2006 to 2.81% (95% CI 1.3-4.31%) in 2010. The next most common complication was suprachoroidal hemorrhage at 0.56% (95% CI 0.25-0.87%) in 2006 and 0.46% (95% CI 0.3-0.62%) in 2010. The least common complication concerned intraocular lens (IOL)-drop. Complications were seen most with lensectomy, while phacoemulsification caused the least complications. Mean hospitalization time in uncomplicated cases was 0.59 days (95% CI 0.58-0.61 days) and in complicated cases 1.14 days (95% CI 1.07-1.20 days; p < 0.001). CONCLUSION: Complications of cataract surgery in Iran had a decreasing trend during 2006-2010. However, results from 2010 indicate that cataract surgical complications still need to be focused on. Hospitalization was longer for cases with complications, and further reducing this could help decrease costs of cataract surgery.

Anterior Chamber Angle and Anterior Chamber Volume in a 40- to 64-Year-Old Population.

PURPOSE: To determine the distribution of the anterior chamber angle (ACA) and anterior chamber volume (ACV) in an Iranian population of 40- to 64-year-old people using the Pentacam. METHODS: In this cross-sectional study, multistage sampling was used to select 300 clusters, including 6,311 individuals from the city of Shahroud. All selected participants underwent examinations in one place. Optometric examinations, including measurement of visual acuity and refraction, and ophthalmologic examinations, including slit-lamp examination, were performed for all participants. Moreover, all patients underwent imaging with the Pentacam. RESULTS: The mean ACA and ACV was 34.3° (95% confidence interval [CI]: 34.1°-34.5°) and 139 µL (95% CI: 137.7-140.3), respectively. In a multiple linear regression model, the ACA was inversely correlated with age (coefficient=-0.08), lens thickness (coefficient=-1.38), corneal diameter (coefficient=-0.36), and corneal curvature (coefficient=-1.43), and directly correlated with the anterior chamber depth (ACD) (coefficient=6.59). In another model, ACV was inversely correlated with age (coefficient=-0.37), central corneal thickness (coefficient=-0.04), and spherical equivalent (coefficient=-1.15), and directly correlated with the ACD (coefficient=85.67), lens thickness (coefficient=14.15), corneal diameter (coefficient=4.80), corneal curvature (coefficient=18.43), ACA (coefficient=0.65), and intraocular pressure (coefficient=0.23). CONCLUSION: The findings of this study could be used as a reference for diagnosis and treatment in Iran and the Middle East region. Increase in age and decrease in the ACD were important factors associated with decreased ACA and ACV, although the correlation of other biometric components was also evaluated. Some of these components, such as the corneal curvature and lens thickness, had a significant relationship with these two variables.

Past History of Ocular Trauma in an Iranian Population-Based Study: Prevalence and its Associated Factors.

PURPOSE: The purpose of this study was to determine the prevalence of a history of ocular trauma and its association to age, sex, and biometric components. MATERIALS AND METHODS: Residents of Shahroud, Iran aged 40-64 years, were sampled through a cross-sectional study using multistage cluster sampling. Three hundred clusters were randomly selected, and 20 individuals were systematically selected from each cluster. The subjects underwent optometric and ophthalmic examinations, and ocular imaging. A history of ocular trauma was determined through personal interviews. RESULTS: The prevalence of a history of trauma and blunt trauma, sharp trauma, and chemical burns were 8.57%, 3.91%, 3.82%, and 1.93%, respectively. After adjusting for age, the rate of all types of trauma was significantly higher for males. Only the prevalence of chemical burns significantly decreased with aging. A history of hospitalization was stated by 1.64% of the subjects. The axial length was significantly longer in cases with a history of trauma. The corneal curvature was significantly larger in cases with a history of sharp trauma and chemical burns. The prevalence of corneal opacities was significantly higher among cases with a history of the blunt trauma odds ratio (OR = 2.33) and sharp trauma (OR = 4.46). Based on corrected visual acuity, the odds of blindness was 3.32 times higher in those with a history of ocular trauma (P < 0.001). CONCLUSION: A considerable proportion of the 40-64-year-old population reported a history of ocular trauma. This observation has important health implications. Blindness, corneal opacities, and posterior subcapsular cataract were observed more frequently among these cases, and they demonstrated differences in some ocular biometric components.

The prevalence of strabismus in 7-year-old schoolchildren in Iran.

PURPOSE: To determine the prevalence of tropia and phoria in Iran and their association with some related factors. METHODS: In a cross-sectional population-based study, multistage randomized cluster sampling was used to select participants from among grade 1 students in the primary schools of 7 cities of Iran. After obtaining their parents' approval, the students underwent the measurement of uncorrected and corrected visual acuity, cycloplegic refraction, and cover test. Distant and near cover test were performed at 6 m and 40 cm, respectively, with the best corrected visual acuity. Tropia and phoria were measured separately. RESULTS: Of 4157 selected students, 3675 participated in the study. The prevalence of strabismus was 1.68% (95% CI 1.13-2.23). The prevalence of strabismus was 2.17% (95% CI 1.06-3.29) in boys and 1.27% (95% CI 0.57-1.96) in girls (p = 0.216). Moreover, 1.27% (95% CI 0.82-1.72) of the children had exotropia and 0.44% (95% CI 0.22-0.65) had esotropia. The prevalence of constant and intermittent strabismus was 0.73% (95% CI 0.26-1.19) and 0.96% (95% CI 0.55-1.36), respectively. Phoria was detected in 32.98% (95% CI 24.25-41.71) of the children in this study. The prevalence of residual amblyopia was 23.77% (95% CI 9.45-38.08) in strabismic and 1.43% (95% CI 0.09-1.96) in non-strabismic children (p < 0.001). The odds of strabismus were significantly higher in hyperopic and astigmatic children. CONCLUSION: This study showed the prevalence of tropia and phoria across Iran. Exotropia was the most common type of tropia in Iran and intermittent strabismus was the most common type of strabismus. Due to prevalent amblyopia in strabismus, attention should be directed toward careful screening and treatment.

The prevalence of amblyopia in 7-year-old schoolchildren in Iran.

PURPOSE: To determine the prevalence of amblyopia in schoolchildren aged 7 years in Iran, its relation with refractive errors, and its determinants. METHODS: In this cross-sectional study, cluster sampling was done from elementary school students in 7 cities in Iran. In all schools, an optometrist conducted all tests, including measurement of uncorrected and corrected visual acuity, cycloplegic refraction, and cover test. In this study, amblyopia was defined as best corrected visual acuity 20/30 or less or a 2-line interocular optotype acuity difference with no pathology. RESULTS: Of the 4157 students selected for the study, 3675 participated and final analyses were done with data from 3547 children. The prevalence of amblyopia was 1.88% (95% CI: 1.24-2.52) (n=63). The prevalence was 1.91% (95% CI: 0.85-2.97) in boys and 1.85% (95% CI: 1.12-2.58) in girls (p=0.92). Among these cases, 60.30% (n=38) were unilateral. Also, 61.9% were strabismic, 27.0% were anisometropic, 9.5% were isometropic, and one case (1.6%) was due to congenital cataracts. Amblyopic individuals were more hypermetropic and the mean cylinder error was significantly higher. CONCLUSION: Necessary attention should be paid to amblyopia, although its prevalence in Iran is mid-range when compared with other countries. Amblyopia is more common in hyperopic and astigmatic individuals and therefore it is important to pay more attention to this refractive error during childhood. Since strabismus is the most common cause of amblyopia in Iran, children need to be checked for strabismus before the age of 5 years.

Treatment and prevention of acute respiratory infections among Iranian hajj pilgrims: a 5-year follow up study and review of the literature.

UNLABELLED: Background Respiratory diseases/syndromes are the most common causes of referring to physicians among pilgrims in Hajj. They lead to high morbidity, impose high costs on the health system and are among the major obstacles for pilgrims to perform Hajj duties. The main aim of our study was to determine types, frequencies, etiologies, and epidemiologic factors of respiratory diseases among Iranian Hajj pilgrims and to suggest some preventive and treatment strategies. METHODS: To determine the types and frequencies of respiratory syndromes, we implemented a syndromic surveillance method in Iranian health care system for Hajj during 5 consecutive years. To achieve the etiology of these diseases, we performed 4 concurrent before and after studies. We also evaluated efficacy of the flu and pneumovax vaccines among Iranian Hajj pilgrims in 2 studies. To determine some other epidemiological factors, we conducted 4 additional studies. RESULTS: The most common problem was common cold like syndrome. Origins of the most upper respiratory problems were infections, and allergies were less involved. Among infectious agents, viruses were the most common agents and their frequencies were as follows respectively: Adenoviruses 38 (36.2 %), Rhinoviruses 31 (30%), Influenza type B virus 21 (20%). Bacteria were often the secondary causes and their frequencies were as follows respectively: Intestine bacillus 69 (19.4%), Chlamydia pneumonia 20(15.8%), Haemophiluses 32 (9.1%) and Streptococcus (A,C and G) 30 ( 8.5%). We introduced some epidemiological factors as effective in creating respiratory diseases. CONCLUSION: In this paper, we suggested some applied points for prevention, treatment, and correction of common malpractices in the treatment of respiratory diseases of the pilgrims.

Success rate and complications of internal jugular vein catheterization with and without ultrasonography guide.

BACKGROUND: Central venous catheterization (CVC) is an important procedure in emergency departments (EDs). Despite existence of ultrasonography (US) devices in every ED, CVC is done using anatomical landmarks in many EDs in Iran. OBJECTIVES: This study aimed to compare the traditional landmark method vs. US-guided method of CVC placement in terms of complications and success rate. PATIENTS AND METHODS: In this randomized controlled trial, patients who were candidate for internal jugular vein catheterization, and referred to Baqiyatallah Hospital ED were randomly allocated into US-guided CVC and anatomical landmarks guided CVC groups. Central vein access time, number of attempts, success rate, and complications in each group were evaluated. Mann-Whitney U, chi-square and Fisher exact tests along with Pearson and Spearman correlation coefficients were used to analyze the data. RESULTS: Out of 100 patients, 56 were male and 44 were female. No significant differences were found between the US-guided and traditional landmark methods of CVC insertion in terms of age, gender, BMI, and site of catheter insertion. The mean access time was significantly lower in the US-guided group (37.12 ± 17.33 s vs. 63.42 ± 35.19 s, P < 0.001). The mean number of attempts was also significantly lower in the US-guided group (1.12 ± 0.3 vs. 1.58 ± 0.64 times, P < 0.001). Eighty-eight percent of patients in the US-guided group were catheterized in the first attempt, while 50% of patients in the traditional landmark group were catheterized in the second or more attempts (P < 0.001). The success rate was 100% in the US-guided group, while it was 88% in the landmark group (P = 0.013). Moreover, the rate of complications was significantly lower in the US-guided group (4% vs. 24%, P = 0.004). CONCLUSIONS: The US-guided method for CVC placement was superior to the traditional landmark method in terms of access time, number of attempts, success rate, and fewer complications.

Mortality and injuries among Iranians in Iraq-Iran war: a systematic review.

BACKGROUND: The Iraq-Iran war was one of the longest conflicts in the twentieth century. The aim of our research was to review the incidence of mortality and injuries of the war. METHODS: A search strategy was designed and run in Medline, EMBASE, Scopus, and Iranian databases including Scientific Information Database (SID), IranMedex, and Magiran. Also, searching grey literature, checking references, tracking citations, hand-searching of focused journals, and websites were utilized for retrieval of related studies. All of articles which studied epidemiology of mortality or injuries of the war were included. The excluding criteria were case reports, case series, laboratory researches, and nonoriginal studies. RESULTS: Fourteen articles out of 1751 primary results were selected to be included in the study. During the war (1980 - 1988), 188,015 to 217,489 Iranians were killed (about 70 people per day). The mean age of mortality was 23 years. Six thousand four hundred twenty-seven (2.9%) of those who died during the war were females. One thousand five chemical warfare victims died between 1983 and 1994. From 1985 through 1998, 82 veterans had successful suicides too. At the end of war, we had 398, 587 veterans who needed follow- up. Among them, there were 52,000 chemical warfare victims. Between 1988 and 2003, 1400 people died and 2313 injured due to landmines and unexploded ordnances in five border provinces. CONCLUSION: The war caused a lot of mortalities and morbidities in our country. Now, 24 years after the war, many physically, mentally, and chemically injured victims have remained. We suggest other studies about indirect impacts of the war on societies, families, friends, and affiliates of the victims.

Concurrent validity of persian version of wechsler intelligence scale for children - fourth edition and cognitive assessment system in patients with learning disorder.

OBJECTIVE: The aim of this study was to compare the Persian version of the wechsler intelligence scale for children - fourth edition (WISC-IV) and cognitive assessment system (CAS) tests, to determine the correlation between their scales and to evaluate the probable concurrent validity of these tests in patients with learning disorders. METHODS: One-hundered-sixty-two children with learning disorder who were presented at Atieh Comprehensive Psychiatry Center were selected in a consecutive non-randomized order. All of the patients were assessed based on WISC-IV and CAS scores questionnaires. Pearson correlation coefficient was used to analyze the correlation between the data and to assess the concurrent validity of the two tests. Linear regression was used for statistical modeling. The type one error was considered 5% in maximum. FINDINGS: There was a strong correlation between total score of WISC-IV test and total score of CAS test in the patients (r=0.75, P<0.001). The correlations among the other scales were mostly high and all of them were statistically significant (P<0.001). A linear regression model was obtained (α = 0.51, ß = 0.81 and P<0.001). CONCLUSION: There is an acceptable correlation between the WISC-IV scales and CAS test in children with learning disorders. A concurrent validity is established between the two tests and their scales.