Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.9%). Furthermore, 106/289 patients who were referred with positive findings went through reanalysis and confirmatory tests which confirmed MPS diagnosis in 104. Among the total of 258 MPS patients, 225 were homozygous, 90 harbored novel variants, and 9 had copy number variations. MPS IV was the most common type (34.8%) followed by MPS I (22.7%) and MPS VI (22.5%). Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281C>A [p.Ser94*]), GALNS (c.319G>A [p.Ala107Thr], c.860C>T [p.Ser287Leu], c.1042A>G [p.Thr348Ala]), and IDUA (c.1A>C [p.Met1Leu], c.1598C>G [p.Pro533Arg], c.1562_1563insC [p.Gly522Argfs*50]). Our extensive patient cohort reveals the genetic and geographic landscape of MPS in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants.

Is the sharp increasing trend of multiple sclerosis incidence real in Iran?

BACKGROUND: Some epidemiologic studies have reported a sharp increase in multiple sclerosis (MS) incidence in different provinces in Iran. This report aimed to investigate more closely the increasing trend of MS incidence in the past 10 years in Iran. METHODS: In this longitudinal study, the data for all MS patients meeting the McDonald criteria were obtained from a national registry, coordinated by the Ministry of Health (MOH). Joinpoint (JP) regression was used for time trend analysis of MS incidence and determine the optimal number of significant joinpoints. Finally, an annual percentage change (APC) in MS incidence for each segment of the trend line was estimated with 95% confidence interval. RESULTS: The mean age of the patients and the mean annual incidence rate of MS were 30.9 ± 1.1 and 5.3 ± 1.9 per 100,000 population, respectively. The overall incidence rate of MS had increased significantly from 2.14 in 2006 to its peak (7.5) in 2014, per 100,000 population (APC = 12%, P < 0.001). The first JP was observed in 2011 in both male and female groups. The overall APC in the first segment was 22.6% (17.2-28.2%, p < 0.01). Besides, the corresponding APC values for males and females were 22.1% (14.7-30%, p < 0.01) and 22.5% (17.5-27.8%, p < 0.01), respectively. After 2011, the MS incidence underwent a more or less decreasing trend in both genders. CONCLUSION: Contrary to previous studies, the MS incidence trend in Iran was rising just before 2011, and in the recent decade, Iran has a stable rate of MS cases.

A multi-centre survey on hospital malnutrition: result of PNSI study.

BACKGROUND: Disease-related malnutrition is associated with adverse outcomes such as increased rates of morbidity and mortality, prolonged hospital stay, and extra costs of health care. This study was conducted to assess nutritional status among patients and to determine the risk factors for malnutrition in Iran university f. METHODS: Persian Nutritional Survey In Hospitals (PNSI) was a cross-sectional study that conducted in 20 university hospitals across Iran. All the patients with age range of 18 to 65 years, who were admitted or discharged, were assessed by subjective global assessment (SGA). RESULTS: In total, 2109 patients were evaluated for malnutrition. Mean values of age and body mass index were 44.68 ± 14.65 years and 25.44 ± 6.25 kg/m2, respectively. Malnutrition (SGA-B & C) was identified in 23.92% of the patients, 26.23 and 21% of whom were among the admitted and discharged patients, respectively. The highest prevalence of malnutrition was in burns (77.70%) and heart surgery (57.84%) patients. Multivariate analysis presented male gender (OR = 1.02, P < 0.00), malignant disease (OR = 1.40, P < 0.00), length of hospital stay (OR = 1.20, P < 0.00), and polypharmacy (OR = 1.06, P < 0.00) as independent risk factors for malnutrition. Malnutrition was not associated with age (P = 0.10). CONCLUSION: This study provides an overall and comprehensive illustration of hospital malnutrition in Iran university hospitals, finding that one out of four patients were malnourished; thus, appropriate consideration and measures should be taken to this issue.

Obesity and Diabetic Complications: A Study from the Nationwide Diabetes Report of the National Program for Prevention and Control of Diabetes (NPPCD-2021) Implications for Action on Multiple Scales.

BACKGROUND: Obesity plays a major role in the pathogenesis and development of macro- and microvascular complications of type 2 diabetes (T2D) and type 1 diabetes (T1D). We aimed to assess the association between obesity and macrovascular and microvascular complications of diabetes. METHODS: This study consisted of 111,830 patients (age range: 1-106) with diabetes including 10,641 T1D (3187 obese [38.2% men] and 7454 non-obese [45.5% men]) and 101,189 T2D (51,873 obese [27.5% men] and 49,316 non-obese [33.4% men]) from the National Program for Prevention and Control of Diabetes (NPPCD-2021) in Iran, who attended academic tertiary care outpatient clinics from February 2016 to April 2021. A pooled logistic regression model was used to examine the association between obesity and diabetic complications. RESULTS: Among patients with T1D, a significant association was found between obesity and cardiovascular disease (CVD), neuropathy, nephropathy and retinopathy (OR= 1.75, 1.56, 1.80 and 1.92, P-value= 0.001, 0.004, 0.001 and <0.001, respectively). In T2D, a statistically significant association was found between obesity and CVD, neuropathy and nephropathy (OR= 1.63, 1.98, 1.21, respectively, P-values <0.001). CONCLUSION: Obesity was independently associated with CVD, neuropathy and nephropathy in patients with T1D and T2D and with retinopathy only in T1D, to different degrees. The association between obesity and retinopathy and neuropathy was the strongest among T1D and T2D, respectively. Findings from this study suggest that obesity affects diabetic complications differently among the two types of diabetes, in terms of epidemiology and pathophysiology. This signifies the importance of different preventive and therapeutic approaches to obesity in T1D compared to T2D, on a national and global scale.

Effects of a Mediterranean diet on the development of diabetic complications: A longitudinal study from the nationwide diabetes report of the National Program for Prevention and Control of Diabetes (NPPCD 2016-2020).

OBJECTIVE: To evaluate the effectiveness of a Mediterranean dietary pattern on the incidence of macrovascular and microvascular complications of diabetes, namely cardiovascular disease (CVD), diabetic foot disorders, diabetic retinopathy, nephropathy, and neuropathy. METHODS: This longitudinal study was conducted among 71392 adults with diabetes who attended academic tertiary-care outpatient clinics from February 2016 to March 2020 across Iran using the National Program for Prevention and Control of Diabetes database. Among them, 22187 patients with diabetes (type 1 and type 2) completed 2-11 follow-up visits after baseline registration. The association between adherence to a Mediterranean diet and diabetic complications was assessed using pooled logistic regression models. This association was adjusted for potential confounders. The effect of time was assessed using fractional polynomials. RESULTS: A total of 22187 participants were included in the analysis (30.22% men and 69.78% women) with either type 1 (mean age 50.7 years) or type 2 (mean age 59.9 years) diabetes. After adjustment for confounding variables, there was a negative correlation between adherence to a Mediterranean diet and the incidence of CVD among patients with type 1 diabetes (T1D) and 2 diabetes (T2D) (OR= 0.53, 95% CI: 0.37 - 0.75, p-value <0.001 and OR= 0.61, 95% CI: 0.57 - 0.89, p-value <0.001, respectively). Also, the diet had a statistically significant protective effect against incident symptomatic neuropathy (OR= 0.32, 95% CI: 0.23 - 0.43, p-value <0.001, and OR= 0.68, 95% CI: 0.64 - 0.72, p-value <0.001, respectively), nephropathy (OR= 0.42, 95% CI: 0.30 - 0.58, p-value <0.001, and OR= 0.88, 95% CI: 0.80 - 0.96, p-value= 0.007, respectively), and retinopathy (OR= 0.32, 95% CI: 0.24 - 0.44, p-value <0.001, and OR= 0.68, 95% CI: 0.61 - 0.71, p-value <0.001, respectively) in T1D and T2D. CONCLUSION: The Mediterranean dietary pattern is associated with a lower incidence of CVD and microvascular complications (i.e. diabetic retinopathy, nephropathy, and neuropathy) among a cohort of patients with T1D and T2D in Iran.

24/7 Primary Percutaneous Coronary Intervention as a National Program.

Due to the importance of early treatment in the final prognosis of ST-elevation myocardial infarction (STEMI) patients, full-time provision of revascularization services should be available 24 hours a day, 7 days a week (24/7) in conjunction with a fully-coordinated pre-hospital emergency system and equipped centers with experienced medical teams. We reviewed the 24/7 primary percutaneous coronary intervention (PCI) management registry and evaluated the quality of care and patient management as well as the temporal trend of provided health care services. In the present cross-sectional study, we retrieved the data on 11,563 STEMI patients having undergone primary PCI at the thirty-one 24/7 PCI-capable hospitals through the national 24/7 STEMI management program between September 2015 and August 2017 in Iran. The median (25th-75th) age of the patients was 59 (51-68) years. The median (25th-75th) time of door-to-device was 64 (41-100) min and 68% of patients achieved door to device time of ≤90 min. There was no significant difference in the median door-to-device time between the general and heart hospitals. This is the first Iranian National attempt to provide a uniform guideline-driven standard management in patients with STEMI undergoing primary PCI in a 24/7 program. We demonstrated an acceptable door-to-device time consistent with the recommendations of the current guidelines. We observed higher door-to-device time in older patients, female patients, and those where the culprit lesion was other than the left anterior descending coronary artery. Efforts should be made to improve door-to-device time in all patients or groups.

Determinants of glycemic control: Phase 2 analysis from nationwide diabetes report of National Program for Prevention and Control of Diabetes (NPPCD-2018).

BACKGROUND: Diabetes is one of the leading causes of morbidity and mortality worldwide, especially among middle and low income nations. Many diabetic complications and comorbidities are attributable to poor glycemic control. The aim of this study was to update and extend the national diabetes reports on the status of comorbidities, diabetes care and complications in Iran. Moreover, we investigated the risk factors of poor glycemic control in the Iranian population. METHODS: National database of 99,651 patients with diabetes who attended university-affiliated clinics between April 1, 2017 and February 30, 2018 was used to carry out a cross-sectional study. Stepwise backward selection logistic regression model was used to examine the associated factors of glycemic control. RESULTS: In this study 73.0% and 56.5% of the enrolled population with diabetes, had hypertension and hyperlipidemia, respectively. The prevalence of patients who received education for nutrition therapy or diabetes self-management was 16.3% and 23.3% respectively. Poor glycemic control was associated with male gender (OR=1.06, p=0.001), obesity (OR=1.03, p=0.05), duration of diabetes (OR=1.018, p<0.001), smoking (OR=1.08, p=0.041), hypertension (OR=1.53, p<0.001), hyperlipidemia (OR=1.15, p<0.001), insulin therapy (OR=1.26, p<0.001) and combination of insulin and oral anti-diabetic agents compared to oral anti-diabetic agents alone (OR=2.36, p<0.001). CONCLUSION: We demonstrated that the prevalence of diabetes comorbidities is high in Iranian population and that a great proportion of Iranian patients with diabetes had not reached the goal of glycemic control. Our findings provide a starting point from which to investigate the obstacles that prevent patients with diabetes from reaching metabolic targets.

Geographic variations of multiple sclerosis in Iran: A population based study.

BACKGROUND: The epidemiology of Multiple sclerosis (MS) has changed in recent decades. Considering that the incidence and geographical variations of MS is not well known in Iran. The present study was conducted to investigate the incidence of MS and its geographic variations in Iran. METHODS: Data from a national registry, coordinated by the Ministry of Health (MOH), were collected for this study. In Iran, all MS patients are eligible to receive care and treatment services based on their records in this registry. Therefore, it seems that the related data are comprehensive with very high coverage, particularly in recent years. In this study, the annual incidence rates were calculated based on year of diagnosis of MS. RESULTS: In this registry, 32,633 new cases were recorded between 2011 and 2016. After standardized for age, the mean annual incidence rate was 6.5 per 100,000 populations. It was 10.2 and 2.9 in women and men respectively. This incidence ranged from 1.7 to 12.8 in provincial level, with a higher intensity in the central part of the country. CONCLUSION: It seems that the incidence rate of MS and its ratio in females and males are more or less comparable with the dominant patterns in developed countries, although its variation within the country is very considerable.

Diabetes in Iran: Prospective Analysis from First Nationwide Diabetes Report of National Program for Prevention and Control of Diabetes (NPPCD-2016).

We estimated proportions of different types of diabetes, comorbidities, treatment (the use of oral glucose-lowering agents and insulin), control (hyperglycemia, dyslipidemia and hypertension) and chronic microvascular and macrovascular complications among people with diabetes presenting to the tertiary-care academic diabetes outpatient clinics in Iran. This study is the prospective analysis of data (n = 30,202) from the registry of university-affiliated adult outpatient diabetes clinics in the country during 2015-2016. The proportions of type 1 diabetes, types 2 diabetes, and other types of diabetes were 11.4%, 85.5%, and 1.3%, respectively. The frequencies of drug-naivety, use of oral agents, insulin monotherapy and insulin combination therapy were 2.9%, 60.5%, 11.5%, and 25.1%, respectively. Around 13.2%, 11.9% and 43.3% of patients with diabetes had controlled hyperglycemia, hyperlipidemia and hypertension, respectively. The proportions of retinopathy, nephropathy, peripheral neuropathy, diabetic foot, and ischemic heart disease were 21.9%, 17.6%, 28.0%, 6.2%, and 23.9%, respectively. Despite the wide availability of medications and insulin coverage in Iran, the estimated national control of hyperglycemia, hyperlipidemia and hypertension (especially for young men and old women) remains subpar. The present study further suggests that the frequencies of chronic vascular complications among patients with diabetes are relatively high in Iran.

Evaluation of an urban phase of the specialized care program for diabetes in iran: providers' perspectives.

BACKGROUND: To develop and implement more effective programs of health care delivery to prevent and control diabetes, Iran has developed and implemented the urban phase of the specialized care program for diabetic's patients. Deeply understanding the views and experiences of various stakeholders in this program can assist policy makers to identify the program's strengths and weaknesses and enable them to develop action plans. Hence, the present study aimed to evaluate the planning and establishing of this program from the perspective of providers. METHODS: A qualitative study was applied using documents review and face-to-face semi-structured interviews with the program leads and relevant executive managers of the local medical universities. Thematic analysis was used to analyze the data. RESULTS: Three main themes and nine subthemes were explored, including program planning (the content and the strengths, weaknesses, and corrective measures), implementation (executive mechanisms at the university level, establishment of referral system, collaboration between deputies of health and treatment, information dissemination mechanisms, satisfaction measurement and strengths, weaknesses and corrective measures), and result (implementation results). CONCLUSIONS: The urban phase of the specialized care program for diabetic's patients has been a good base to improve continuity of care, which emphasizes on controlling and prevention of occurrence or progression of chronic complications of diabetes. This model can also be used for better management of other chronic disease. However, there are still issues that should be considered and improved such as allocation of guaranteed resources, more trained health professionals, and more evidence based guidelines and protocols, better collaboration among medical universities' deputies, clearer payment system for program evaluation and better information management system.