Barriers to physical activity in the Iranian population: findings from the STEPwise surveillance 2021.

BACKGROUND: Physical inactivity is a critical predictor of all-cause mortality and many non-communicable diseases (NCD) including coronary heart disease, diabetes, hypertension, dementia, and several cancers. The main objective of this study was to determine the main barriers to physical activity based on the STEPwise Surveillance in Iran in 2021, to guide policymakers in developing the most effective physical activity increasing strategies. METHODS: This cross-sectional study was conducted on 27,515 female and male individuals aged over 18 years from the STEPwise Surveillance 2021. The barriers to physical activity according to the modified version of barriers questionnaire and intrapersonal, interpersonal, economic, cultural, and environmental domains based on social-ecological models were determined. Association between barriers domain and physical activity level was assessed. RESULTS: Lack of time due to job commitments (31.4%) and family (19.3%) and inappropriate physical conditions including illness, pain, injury, disability, and fatigue (30.4%) were the most frequent barriers to physical activity. Interest in sedentary leisure time activities including virtual space, computer games and watching TV were the next frequent barriers to physical activity (10.01%). Intrapersonal domain had the highest frequency (62.9%) and cultural domain had the lowest frequency (2.3%). Intrapersonal and interpersonal barriers reduced the odds of engaging in physical activity (OR: 0.62, P value < 0.001, OR: 0.76, P value < 0.001). CONCLUSION: Intra- and inter-personal domain barriers might reduce the odds of being active. Developing action plans addressing these factors is suggested to increase physical activity levels.

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes. In a few cases, the diagnosis was made by metabolic studies. Based on the MRI pattern, diagnosed patients were divided into cohorts A (hypomyelinating LDs) versus cohort B (Other LDs). The most recent LD classification was utilized for classification of diagnosed patients. For novel variants, in silico analyses were performed to verify their pathogenicity. Out of 680 registered patients, 342 completed the diagnostic evaluations. In total, 245 patients met a diagnosis which in turn 24.5% were categorized in cohort A and the remaining in cohort B. Genetic tests revealed causal variants in 228 patients consisting of 213 variants in 110 genes with 78 novel variants. WES and single gene testing identified a causal variant in 65.5% and 34.5% cases, respectively. The total diagnostic rate of WES was 60.7%. Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2-HGA-3.6%), mitochondrial leukodystrophies (12.6%), ion and water homeostasis disorders (7.3%; MLC-4.5%), peroxisomal disorders (6.5%; X-ALD-3.6%), and myelin protein disorders (3.6%; PMLD-3.6%) were the most commonly diagnosed disorders. Thirty-seven percent of cases had a pathogenic variant in nine genes (ARSA, HEXA, ASPA, MLC1, GALC, GJC2, ABCD1, L2HGDH, GCDH). This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children.

Efficacy and Safety of Analog Insulin in Comparison With Human Insulin for Hyperglycemia in Hospitalized Patients With Acute Stroke: A Randomized, Open-Label, Single-Center Trial.

OBJECTIVE: To assess the efficacy and safety of analog insulins in comparison with human insulins for hyperglycemia in hospitalized patients with acute stroke. METHODS: In this single-center, open-label, randomized trial, 102 patients (age 59.4 ± 11.7 years, 54 women) admitted with acute stroke (52 ischemic, 50 hemorrhagic) and hyperglycemia were assigned to analog insulin (n = 52) or human insulin (n = 50) group during February to June 2021. Insulin was initiated and titrated according to the predefined standard protocol. The capillary blood glucose (BG) level was monitored by standardized glucometers. The primary outcomes were mean daily BG and the number of hypoglycemic events. RESULTS: Between the 2 treatment groups, there was no significant difference in the mean daily BG (P >.05 for all days) or in the frequency of hypoglycemic episodes (P =.727). Four participants experienced severe hypoglycemia; all were receiving human insulin (P =.054). In the analog insulin group, there was a tendency toward lower daily total requirement for insulin (P =.053). The difference in bolus insulin dose was significantly lower in the analog insulin group (P =.029), but the difference in basal insulin dose was similar (P =.167). Between the 2 groups, there were no significant differences in the hospital mortality rate, modified Rankin Scale score on outcome, or length of hospital stay (P =.729,.658, and.918, respectively). CONCLUSION: Hospitalized patients acute stroke and hyperglycemia exhibited similar mean BG but a trend of lower incidence of severe hypoglycemia when treated with analog insulins in comparison with human insulin.

Comparing Stop Signal Reaction Times in Alzheimer's and Parkinson's Disease.

BACKGROUND: To investigate the relative contributions of cerebral cortex and basal ganglia to movement stopping, we tested the optimum combination Stop Signal Reaction Time (ocSSRT) and median visual reaction time (RT) in patients with Alzheimer's disease (AD) and Parkinson's disease (PD) and compared values with data from healthy controls. METHODS: Thirty-five PD patients, 22 AD patients, and 29 healthy controls were recruited to this study. RT and ocSSRT were measured using a hand-held battery-operated electronic box through a stop signal paradigm. RESULT: The mean ocSSRT was found to be 309 ms, 368 ms, and 265 ms in AD, PD, and healthy controls, respectively, and significantly prolonged in PD compared to healthy controls (p = 0.001). The ocSSRT but not RT could separate AD from PD patients (p = 0.022). CONCLUSION: Our data suggest that subcortical networks encompassing dopaminergic pathways in the basal ganglia play a more important role than cortical networks in movement-stopping. Combining ocSSRT with other putative indices or biomarkers of AD (and other dementias) could increase the accuracy of early diagnosis.

Low back pain status of female university students in relation to different sport activities.

PURPOSE: To investigate the prevalence of low back pain (LBP) and its absence rate among female university student athletes in different types of sports. METHODS: A cross-sectional study based on a standard self-reporting questionnaire was performed among 1335 athletes. Participants were female athletes who attended the National Sports Olympiad of Female University Students in basketball, volleyball, futsal, tennis, badminton, swimming, track and field, shooting, and karate. RESULTS: One thousand and fifty-nine athletes with the mean (SD) age of 23.1 (3.8) years responded to the questionnaire (response rate 79%). The 12-month prevalence of LBP was 39.0%; in addition, lifetime and point prevalence of LBP were 59.7 and 17.8%, respectively. Basketball (47.9 %) and karate (44.0 %) players had reported the highest 12-month prevalence of LBP. Also, LBP prevalences in shooting (29.7 %) and badminton (42.4 %) players were not negligible. Results show that, LBP led to relatively high absence rate from training sessions (27.9%) and matches (13.0%). CONCLUSION: While most of the existing literatures regarding female athletes' LBP have focused on particular sports with specific low back demands (such as skiing and rowing), many other sports have not been studied very well in this regard. Investigating LBP prevalence and related factors in other types of sports, such as combat sports, badminton and shooting, can help us better understand the prevalence of low back pain and provide us with necessary insight to take effective steps towards its prevention in athletes.

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder.

Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. Observations: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing. Biomicroscopic examination revealed bilateral corneal haziness with pseudodendritic lesions like tyrosinemia type 2 that were subsided with protein restriction and the use of urea cycle disease (UCD) formula. Conclusions and importance: Citrullinemia is the inherited autosomal recessive disorder of urea cycle that leads to ammonia and accumulation of other toxic substances in the blood. Two types of Citrullinemia have been defined. Citrullinemia type 1, caused by deficiency or reduction in argininosuccinate synthetase enzyme activity due to damaging mutation in ASS1 gene. Citrullinemia type 2 as another subtype is caused by the absence or dysfunction of the mitochondrial membrane carrier protein (SLC25A13), also called CITRIN. Pseudodendritic keratitis is a rare condition that may be seen with tyrosinemia type 2. The association of this ocular complaint with citrullinemia has not been described previously. Awareness of this phenomenon may improve the diagnosis and management of citrullinemia patients.

A fulminant presentation of post-COVID-19 necrotizing pneumonia and ischemic stroke in an 8-year-old girl: A case report and literature review.

Necrotizing pneumonia (NP) is the destruction of the interstitial part of the lung due to severe infection. One cause of this rare and fatal condition in pediatrics is Acinetobacter. Severe infections, especially pneumonia, can prone pediatric patients to ischemic stroke. This study reports an 8-year-old girl presented to the emergency department complaining of shortness of breath, fever, and fatigue. She was admitted to the intensive care unit due to respiratory distress and pericardial effusion. Swab and respiratory secretion tests for COVID-19 and Acinetobacter were positive. In her admission course, her condition deteriorated, and on the fifth day, she underwent a craniotomy due to the signs of increased intracranial pressure (ICP). The computed tomography (CT) scan showed an ischemic stroke. Despite all efforts and medical efforts, the patient's clinical condition got worse, and she died 10 days after the surgery. COVID-19 can lead to vulnerability to severe bacterial infections such as NP in pediatrics. Severe infections are a significant risk factor for ischemic stroke. The presentation might be different in intubated unconscious patients, such as detecting increased ICP signs. In severe and extensive cases of NP and ischemia, the destruction of the lungs and brain tissue might be irreversible and even lethal. Doctors and parents should consider neurologic complaints in children with infectious diseases as a serious issue since infections make children vulnerable to complications such as stroke.

Evaluation of the Effect of the Pre-Operative Exercise Training on Weight Loss, Quality of Life, and Cardiopulmonary Parameter in Bariatric Metabolic Surgery: A Systematic Review and Meta-Analysis.

The purpose of this study is to assess the impact of pre-surgery exercise training on cardiopulmonary fitness. Ten articles (six RCTs and four non-RCTs) involving 281 individuals were finally included in the synthesis. Regarding the effect on VO2 peak, overall standardized mean differences were 0.71 (95% CI, 0.31 to 1.11, n = 103) with heterogeneity (I2 = 0%, P = 0.49). For 6MWT, overall weighted mean differences (distance in meters) were 31.87 (95% CI, 27.84 to 35.89, n = 100) with heterogeneity (I2 = 0%, P = 0.96). Engaging in pre-bariatric metabolic surgery exercise training might improve anthropometric parameters and cardiopulmonary fitness with no significant changes in components of quality of life. However, considering high levels of heterogeneity, the results should be generalized cautiously.

The effects of coenzyme Q10 supplementation on biomarkers of exercise-induced muscle damage, physical performance, and oxidative stress: A GRADE-assessed systematic review and dose-response meta-analysis of randomized controlled trials.

PURPOSE: This study aims to elucidate the dose-dependent effect of coenzyme Q10 supplementation (CoQ10) on exercise-induced muscle damage (EIMD), physical performance, and oxidative stress in adults. METHODS: A systematic search was conducted through PubMed, Scopus, and ISI Web of Science databases up to August 2023, focusing on randomized control trials (RCTs) that investigated the effects of CoQ10 supplementation on EIMD recovery, physical performance and oxidative stress mitigation in adults. The weighted mean difference (WMD) and 95 % confidence interval (95 %CI) were estimated using the random-effects model. RESULTS: The meta-analysis incorporated 28 RCTs, encompassing 830 subjects. CoQ10 supplementation significantly decreased creatine kinase (CK) (WMD: -50.64 IU/L; 95 %CI: -74.75, -26.53, P < 0.001), lactate dehydrogenase (LDH) (WMD: -52.10 IU/L; 95 %CI: -74.01, -30.19, P < 0.001), myoglobin (Mb) (WMD: -21.77 ng/ml; 95 %CI: -32.59, -10.94, P < 0.001), and Malondialdehyde (MDA) (WMD: -0.73 µmol/l; 95 %CI: -1.26, -0.20, P = 0.007) levels. No significant alteration in total antioxidant capacity was observed post-CoQ10 treatment. Each 100 mg/day increase in CoQ10 supplementation was correlated with a significant reduction in CK (MD: -23.07 IU/L, 95 %CI: -34.27, -11.86), LDH (WMD: -27.21 IU/L, 95 %CI: -28.23, -14.32), Mb (MD: -7.09 ng/ml; 95 %CI: -11.35, -2.83) and MDA (WMD: -0.17 µmol/l, 95 %CI: -0.29, -0.05) serum levels. Using SMD analysis, "very large" effects on LDH and "moderate" effects on CK and MDA were noted, albeit nonsignificant for other outcomes. CONCLUSION: CoQ10 supplementation may be effective in reducing biomarkers of EIMD and oxidative stress in adults. Nevertheless, given the preponderance of studies conducted in Asia, the generalizability of these findings warrants caution. Further RCTs, particularly in non-Asian populations with large sample sizes and extended supplementation durations, are essential to substantiate these observations.

The effect of angular mismatch between vertebral endplate and vertebral body replacement endplate on implant subsidence.

STUDY DESIGN: Comparative biomechanical study. OBJECTIVE: To determine whether an angular mismatch between the vertebral body replacement (VBR) endplate and the simulated foam vertebral endplate leads to accelerated subsidence in a cyclic compression model of the VBR-vertebra interface. SUMMARY OF BACKGROUND DATA: One of the main complications of the VBR surgery is postoperative subsidence and collapse of the VBR implant into the adjacent vertebral bodies. Although numerous factors affecting intervertebral cage subsidence have been cited, few studies have proposed factors responsible for VBR cage subsidence. METHODS: Hardwood blocks at 0-30-degree angles and polyurethane foam blocs have been used as base for this experimental setting. One end of the Synex (Synthes) expandable cage was attached to a material testing machine. The endplate of the implant was placed at a similar spot on the block in such a manner that there was an exact match between the Synex endplate and the foam block at 0 degrees, subsequent angled blocks would tilt the foam endplates by the 10-, 20-, and 30-degree increments as needed. Cyclic axial loads were applied in 9 load-unload cycles. RESULTS: Five samples were tested at each mismatch angle (0, 10, 20, and 30 degrees), for a total of 20 trials. Implant subsidence significantly increased for each 10-degree increase in mismatch angle. This effect, however, did not follow a uniform trend at all angles. The curve appeared exponential at 0 degree of angular mismatch, became linear at 10-20 degrees of mismatch, and then demonstrated some ability to resist load at 30 degrees, leading to a plateau at the higher loads. CONCLUSIONS: Increasing mismatch angles are an important factor in leading to increased cage subsidence into polyurethane blocks. Consequently, the incidence of subsidence in the clinical setting could be reduced by paying careful attention to ensuring that both the prosthetic and bony endplates are well apposed at the end of surgery.

The Effect of Birth Hour on Neonatal Morbidity and Mortality in Very-Low Birth Weight Infants in a Teaching Hospital.

OBJECTIVE: With the increase in the preterm birth rate, the factors influencing mortality and morbidity in very-low-birth weight neonates have gained importance in recent years. The results of available studies on the influence of birth hour on the mortality and morbidity rates of preterm infants are contradictory. Moreover, no study on this topic has been conducted in our region. MATERIALS AND METHODS: This retrospective cohort study was conducted on 127 very-low-birth weight newborns based on birth hour. The newborns were divided into 2 groups, the first born during working hours (7:00 am to 11:59 pm) and the second born during after-hours care (12-6:59 am). Mortality and major diseases were compared using Statistical Package for the Social Sciences by Fisher's exact tests, Pearson's chi-squared test, and independent t-tests. The statistical significance level for all analyses was set at P < .05 and the CI at 95%. RESULTS: Based on the results of this study in terms of neonatal mortality and major morbidities such as intraventricular hemorrhage and the need for prolonged mechanical ventilation, no significant difference was found between the 2 groups, but the difference in appearance, pulse, grimace, activity, respiration (APGAR) score at the fifth minute was statistically significant and was lower at the working hours. CONCLUSION: The results of the study may be due to appropriate allocation of resources, assignment of tasks, and professionalism of care in our study area. Further study is needed to determine the differences in clinical care processes that cause these results.

The Acute Effects of 2 Different Intensities of Resistance Exercise on Autonomic Function in Heart Failure Patients: A Randomized Controlled Trial.

BACKGROUND: Although a wide spectrum of resistance exercise intensities was recommended in the guidelines, none of them investigated the acute effects of different intensities of the resistance exercise on cardiac autonomic function in patients with chronic heart failure. This study aimed to investigate the acute effects of the low and high intensities of the resistance exercise on heart rate variability in chronic heart failure. METHODS: This randomized controlled trial was performed between October 2019 and December 2020. Fifty-seven patients with chronic heart failure (New York Heart Association class II and class III) underwent hemodynamic, functional capacity, and heart rate variability (time and frequency domains) assessments. They were randomly divided into R1, R2, and control groups. The intervention consisted of performing a short aerobic exercise including 15 minutes of walking at an intensity of 50% reserved heart rate for all 3 groups and additional resistance exercise with the intensity of 50% 1-repetition maximum and 75% 1-repetition maximum for R1 and R2 groups, respectively. RESULTS: The standard deviation of normal to normal intervals and standard deviation of average NN intervals became significantly lower in R2 (P =.031), and both high-frequency power and low-frequency power were significantly higher in R1 (P =.039 and P =.004, respectively) after the intervention. No significant changes were observed in the control group. Between-group changes were not significant for hemodynamics and functional capacity after treatment. The between-group comparison demonstrated a significant increase in root mean square of successive differences of the NN intervals in R1 in comparison to the control (P =.035). CONCLUSIONS: These findings indicate that resistance exercise in 50% 1-repetition maximum in comparison to 75% 1-repetition maximum had more favorable effects on the heart rate variability in chronic heart failure.

Influence of Food Type on Human Psychological-Behavioral Responses and Crime Reduction.

The purpose of this narrative review is to emphasize the importance of food consumption and meal selection on mental health and brain function, including psychological and behavioral reactions such as mood, loving relationships, violence, and criminal activity. Additionally, by being aware of the link between food and mental health, the community can be encouraged to make informed food choices in order to avoid unfavorable outcomes like criminality. Food behaviors are shifting significantly over the world. There are also significant changes in mood, sadness, happiness, and violence, as well as the spread of the variety and severity of mental diseases that lead to violent acts. Food intake and meal selection have evolved over the last ten years as the variety and accessibility of food options have become easier and more diverse. These modifications might have both beneficial and bad consequences. This article examines the relationship between food intake and its impact on marital satisfaction. The goal of this review is to support or refute the claim that food influences mood, love, or criminal behavior, or vice versa. Various diets can have an impact on one's mental health and brain, influencing psychological reactions and behavioral responses such as mood, loving relationships, violence, and even criminal activity. Food insecurity has been demonstrated in various studies to have a negative impact on health and psychological well-being, leading to despair, loss of happiness, marital conflict, and violence. For example, herbal extracts and flavonoids have the potential to improve gut microbiota and treat mood disorders. Understanding how the gut-brain axis communicates might help guide interventions for mood and cognitive function. Since the root of most diseases and behaviors is significantly related to the type of food consumed, this research addresses this issue in order to reduce the cost of treatment and prevention of crime and delinquency at the community level by consciously choosing the food consumed by the society. In other words, prevention is always better than cure.

Validation study of the Persian version of the subjective exercise experiences scale (SEES) in Iranian adult individuals.

BACKGROUND: Subjective exercise experiences scale (SEES) is a 12-item questionnaire assessing global psychological responses to exercise, with three constructs including positive well-Being (PWB), psychological distress (PD), and fatigue (FAT). The present study aimed to assess the reliability and validity of the SEES questionnaire in the Iranian population. METHOD: This cross-sectional psychometric study was conducted on 138 adults immediately after 30 min of walking. The internal consistency of the questionnaire was evaluated with Cronbach's alpha coefficient. To assess the test-retest reliability, 38 of the participants were requested to fill in the questionnaire again after a week. The test-retest reliability was analyzed using the intra-class correlation coefficient (ICC). The concurrent validity was examined through the correlation matrix between the domains of SEES and SF12. Principle component analysis was performed to determine the factor loading of the measured variables. IBM SPSS statistics 24 was used for all calculations. RESULTS: Cronbach's alpha was 0.82, 0.82, and 0.81 for the PWB, PD, and FAT, respectively. The ICC value was acceptable for all subscales (ICC for PWB, PD, and FAT were 0.83, 0.88, and 0.74 respectively). There was a weak to moderate correlation between the SEES and SF-12 subclasses. Factor analysis confirmed the three-factor structure of the instrument, explaining 67.21% of the observed variance. Item 3 didn't fit in well with the three constructs and was deleted from the Persian version of the SEES. CONCLUSIONS: The Persian version of the SEES is a valid and reliable instrument to evaluate the psychological response to the exercise stimulus.

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.

BACKGROUND: Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression. This paper presents a novel mutation in ABHD12 in two affected siblings with PHARC syndrome phenotypes. In addition, we summarize genotype-phenotype information of the previously reported patients with ABHD12 mutation. METHODS: Following a thorough medical evaluation, whole-exome sequencing was done on the proband to look for potential genetic causes. This was followed by confirmation of identified variant in the proband and segregation analysis in the family by Sanger sequencing. The variants were interpreted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: A novel pathogenic homozygous frameshift variant, NM_001042472.3:c.601dup, p.(Val201GlyfsTer4), was identified in exon 6 of ABHD12 (ACMG criteria: PVS1 and PM2, PM1, PM4, PP3, and PP4). Through Sanger sequencing, we showed that this variant is co-segregated with the disease in the family. Further medical evaluations confirmed the compatibility of the patients' phenotype with PHARC syndrome. CONCLUSIONS: Our findings expand the spectrum of mutations in the ABHD12 and emphasize the significance of multidisciplinary diagnostic collaboration among clinicians and geneticists to solve the differential diagnosis of related disorders. Moreover, a summary based on mutations found so far in the ABHD12 gene did not suggest a clear genotype-phenotype correlation for PHARC syndrome.

Sexual Dimorphism in Telomere Length in Childhood Autism.

Autism spectrum disorders (ASD) are strikingly more prevalent in males, but the molecular mechanisms responsible for ASD sex-differential risk are poorly understood. Abnormally shorter telomeres have been associated with autism. Examination of relative telomere lengths (RTL) among non-syndromic male (N = 14) and female (N = 10) children with autism revealed that only autistic male children had significantly shorter RTL than typically-developing controls (N = 24) and paired siblings (N = 10). While average RTL of autistic girls did not differ significantly from controls, it was substantially longer than autistic boys. Our findings indicate a sexually-dimorphic pattern of RTL in childhood autism and could have important implications for RTL as a potential biomarker and the role/s of telomeres in the molecular mechanisms responsible for ASD sex-biased prevalence and etiology.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

BACKGROUND: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. OBJECTIVE: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). METHODS: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. RESULTS: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. CONCLUSIONS: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chain fatty acids oxidation. Here, we reported a 10-year-old boy with bilateral hearing loss and a myopathic form of CPT II deficiency, which was confirmed by a molecular genetic test. He was admitted to our hospital with unexplained headaches, vomiting, and fever. Furthermore, he developed seizures, muscle weakness, neck stiffness and pain, mild respiratory distress, and an icteric appearance. The laboratory test results also showed severely elevated lactate dehydrogenase levels (LDH) and creatine phosphokinase (CPK) levels. He also had an icteric appearance with unexplained indirect hyperbilirubinemia. Further examinations revealed a normal heart and liver without any neurological disorders. Muscle pathological examination reported normal pathology without neuromuscular and mitochondrial disorders and storage diseases. Finally, molecular test analysis with next-generation sequencing (NGS) revealed CPT-II deficiency fatty acid oxidation disorder. Furthermore, we identified a homozygous pathogenic variant in the ADGRV1 gene, c.15736C>T p. (Arg5246*), which suggests the Usher syndrome type 2C and the reason for sensorineural hearing loss in this case. Our finding indicates that CPT-II can be associated with multiple symptoms and clinical features. Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness, and rhabdomyolysis.