Archives of Iranian Medicine最新文献

To date, there are very few reports regarding patients with bi-allelic variants in the NIN gene. There is one report of two sisters with severe short stature, microcephaly, and developmental delay with compound heterozygote missense variants in the NIN gene and one paper reporting a homozygote variant in the NIN gene with progressive, high-frequency sensorineural hearing loss in four siblings. The only other report is of four members of a consanguineous family with spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) with a homozygous variant in the NIN gene. Given the scarcity of cases with NIN variants, the relationship between the phenotype and gene is provisional and our case broadens the phenotypic spectrum regarding the phenotype related to NIN gene variants. Here, we report a patient with a homozygous variant in exon 2 of the NIN gene defined as c.3407_3409del (p.Glu1136del). Clinical findings in our patient were characteristic of microcephalic primordial dwarfism (MPD) including microcephaly, prominent nose, intellectual disability and severe short stature. In addition, this patient had bilateral hearing loss, which was not reported in the patients with MPD and variant in the NIN gene before. We identified a novel p.Glu1136del variant in the NIN gene, predicted to disrupt critical centrosome-related pathways. WES was reanalyzed for other genes which are known for deafness and no variant was identified. A family history of deafness was not present in the pedigree. This is the first report of a patient with MPD and deafness associated with the NIN gene.

Background: We aimed to evaluate the situation and change trends in the tracheal, bronchus, and lung (TBL) cancer burden attributable to high fasting plasma glucose (HFPG) stratified by gender, age, region, country, and sociodemographic index (SDI).

Methods: We evaluated the age-standardized death rate (ASDR) and disability-adjusted life years (DALYs) rate of TBL cancer attributable to HFPG and their corresponding estimated annual percentage change (EAPC) trends in 204 countries and 21 regions.

Results: Globally from 1990 to 2019, the ASDR (EAPC=0.98; 95% confidence interval [CI]: 0.82-1.15) and age-standardized DALY rate (EAPC=0.68; 95% CI: 0.55-0.82) of TBL cancer attributable to HFPG trended upward. Furthermore, the steepest increment in age-standardized death and DALY rates were noted in low-SDI regions (EAPC=1.32; EAPC=1.35) and the North Africa/Middle East region (EAPC=2.66, ESPC=2.56) among all five SDI regions and 21 global geographic regions, respectively. Among the 204 countries, the highest growth rate in the ASDR was found in Georgia (EAPC=4.33, 95% CI: 3.66-5.00), and the highest growth rate in the age-standardized DALY rate occurred in Egypt (EAPC=4.34, 95% CI: 4.22-4.47). The highest ASDR and age-standardized DALY rate occurred in people over the age of 65 years, and in the 21 geographic regions, SDIs were negatively correlated with ASDRs and EAPCs in DALYs.

Conclusion: The global burden of TBL cancer attributable to HFPG trended upward. The most significant increase in burden was observed in low-SDI regions and countries.

Background: A healthy diet is essential for managing metabolic syndrome (MetS), but moderation and dietary adequacy remain ambiguous.

Methods: Data from the recruiting phase of the Shiraz University of Medical Sciences Employees Health Cohort Study (SUMS EHCS) were utilized to conduct this cross-sectional analysis. A validated 168-item semi-quantitative food frequency questionnaire (FFQ) was used to collect dietary data in the Persian cohort. In the current study, the healthy eating index (HEI-2015) includes two components, namely adequacy and moderation which were used to evaluate the quality of the diet.

Results: The study included 3380 health workers, with a mean age of 41.81±7 years and 55.2% female. Among them, 22.3% met the ATP III criteria for MetS. The mean total HEI, adequacy, and moderation scores were 63.89±9.53, 41.03±5.88, and 20.13±4.90, respectively. Adjusted model analysis showed no significant correlation between diet adequacy and MetS or its components, but found a significant association between diet moderation and MetS (OR: 1.03 [1.008-1.05]), abdominal obesity (OR: 1.02 [1.003-1.04]), elevated serum triglycerides (TGs) (OR: 1.02 [1-1.03]), and elevated fasting blood sugar (FBS) (OR: 1.03 [1.005-1.05]).

Conclusion: This study found that there was a significant correlation between diet moderation and abdominal obesity, elevated serum TGs, elevated FBS, and MetS. Future studies on the topic are recommended.

Background: The increasing demand for healthcare services and some associated factors including lack of physicians, lack of trust in physicians, ineffectiveness of treatments and high costs may be have led to a rise in non-physician-provided services. This study aims to assess health services delivery by non-physicians and its associated factors in Iran.

Methods: This study was a cross-sectional study conducted using a convenience sampling method in the Iranian community in 2023. A standard questionnaire with 45 questions was developed based on focus group discussions and a validation process to assess the status of receiving services in six medical areas including traditional medicine, abortion, traditional dentistry, obesity and slimming diets, bone setting, and addiction treatment. Data collection was carried out using online questionnaires on Iranian and non-Iranian social media platforms. Descriptive and analytical statistics were used to analyze the data, with logistic regression adjusting for various demographic factors.

Results: Out of 1713 participants, 53.9% (95% CI: 51.5%-56.3%) were women, and the majority were in the 30-40 age group. Traditional Islamic medicine was the most commonly sought service, with 56% (95% CI: 51.2%-60.8%) of users receiving it from non-physicians. Satisfaction with non-physician services varied, with 32.1% (95% CI: 25.8%-38.4%) reporting high satisfaction for traditional medicine, but only 49.4% (95% CI: 40.5%-58.3%) for experimental dentistry. Key reasons for choosing non-physician providers included the effectiveness of traditional treatments and fear of modern medicine's side effects.

Conclusion: The result showed that the use of non-physician services can be considerable and that necessary interventions should be designed to standardize treatments and deal with substandard providers who may be harmful to the health of the community.

Background: To investigate whether the bone age (BA) of Iranian children could be accurately assessed via an artificial intelligence (AI) system. Accurate assessment of skeletal maturity is crucial for diagnosing and treating various musculoskeletal disorders, and is traditionally achieved through manual comparison with the Greulich-Pyle atlas. This process, however, is subjective and time-consuming. Recent advances in deep learning offer more efficient and consistent BA evaluations.

Methods: From left-hand radiographs of children aged 1-18 years who presented to a tertiary research hospital, 555 radiographs (220 boys and 335 girls) were collected. The reference BA was determined via the Greulich and Pyle (GP) method by two radiologists in consensus. The BA was then estimated to use a deep learning model specifically developed for this population. Model performance was evaluated using multiple metrics: Mean square error (MSE), mean absolute error (MAE), intra-class correlation coefficient (ICC), and 95% limits of agreement (LoA). Gender-specific results were analyzed separately.

Results: The model demonstrated acceptable accuracy. For boys, MSE was 0.55 years, MAE was 0.59 years, ICC was 0.74, and the 95% LoA ranged from -0.8 to 1.2 years. For girls, MSE was 0.59 years, MAE was 0.61 years, ICC was 0.82, and the 95% LoA ranged from -0.6 to 1.0 years. These results indicate stronger predictive accuracy for girls compared to boys.

Conclusion: Our findings demonstrate that the proposed deep learning model achieves reasonable accuracy in BA assessment, with stronger performance in girls compared to boys. However, the relatively wide 95% LoA, particularly for boys, and prediction errors at the extremes of the age range highlight the need for further refinement and validation. While the model shows potential as a supplementary tool for clinicians, future studies should focus on improving prediction accuracy, reducing variability, and validating the model on larger, more diverse datasets before considering widespread clinical implementation. Additionally, addressing edge cases and specific conditions that a human reviewer may detect but the model might overlook, will be essential for enhancing its clinical reliability.

A heterogeneous clinical and genetic Charcot-Marie-Tooth (CMT) disease, with peripheral nerve damage resulting in chronic motor and sensory polyneuropathy, has been linked to the mutation in over a hundred genes. We report the adult onset of CMT in three siblings of an Iranian family manifesting with muscle weakness and wasting, foot drop, and pes cavus. Whole-exome sequencing (WES) identified a novel homozygous missense mutation in the MYO9B gene, inherited from obligatory carrier parents. This likely pathogenic variant contributes to chronic demyelinating sensorimotor polyneuropathy and conduction blocking in the ulnar and median nerves in these patients. To our knowledge, our study is the first report on MYO9B-related CMT in Iranian patients. Previously, a few variations in the MYO9B gene were reported to cause CMT. Here we emphasize the potential disruptive role of the detected variant of MYO9B in CMT pathogenesis and also highlight the importance of WES for the proper diagnosis of CMT disease. We also compared the clinical presentations of Iranian and Italian patients expanding the clinical and mutational spectrum of MYO9B-related neuropathies.

Background: The date fruit is a remarkable source of nutraceuticals and bioactive compounds. Different types of phenolic compounds with high antioxidant capacity are found in date seed extract. Additionally, these compounds can be potential antibacterial agents to combat antibiotic resistance strains. Therefore, the main idea of the current study was to quantify five key phenolic acids in the ethanolic extract of Zahidi and Khastawi dates seed and to examine their antibacterial activity against methicillin-resistant Staphylococcus aureus (MRSA).

Methods: The concentration of gallic acid, ferulic acid, p-coumaric acid, sinapic acid and cinnamic acid in the seed extracts were determined by high performance liquid chromatography (HPLC). Then, antibacterial activity of date seed extracts was analyzed using well diffusion method. Furthermore, a scanning electron microscopy (SEM) analysis was performed to confirm the antibacterial effects of the seed extracts.

Results: Phenolic acids were found to be in the range of 10.59 to 33.65 µg mg^-1 in Zahidi and 13.69 to 41.56 µg mg^-1 in Khastawi date seed extract. Gallic acid was the dominant phenolic acid, while cinnamic acid was seen in the lowest concentrations compared with the other phenolic acids in both cultivars. Antibacterial activity study showed that the growth inhibition effect of Khastawi date (14±0.21 mm) was higher than that of Zahidi date (8±0.13 mm) against MRSA. As well, the maximum DPPH scavenging percentage was 79% and 62% for the Khastawi and Zahidi date seed extracts, respectively. Also, SEM analysis suggested that treatment of MRSA with date seed extract resulted in a significant disruption of bacterial structure.

Conclusion: It can be concluded that date seed extract can be considered as a potential source of antibacterial compounds for the drug discovery purposes.

The 'Russian flu,' also referred to as the 'Asiatic flu,' spread globally between 1889 and 1894. According to estimates from international organizations, this epidemic resulted in the deaths of approximately one million individuals. However, there is no information available on the exact number of deaths in Iran. The earliest outbreak of the epidemic was reported in May 1889 in Bukhara, Central Asia, which was part of the Russian Empire. The Russian Railway facilitated the spread of the epidemic from Siberia to the easternmost regions of Russia, westward to Moscow, and subsequently to countries such as China, Sweden, Finland, and Western Europe, eventually reaching the United States and Argentina. It subsequently spread from southern Russia to the South Caucasus and Baku, then moved into Iran from the north, northeast, and northwest, suddenly appearing in cities such as Bandar Anzali, Sari, Rasht, Mashhad, Tabriz, Tehran, Isfahan, Shiraz, and Kerman. The epidemic caused unexpected casualties in the country and startled both modern and traditional physicians. Notably, this epidemic, which appeared in Iran in two waves during 1890 and 1892, was somewhat mitigated due to the country's insufficient transportation infrastructure. As Tehran and Tabriz were either overpopulated or closer to Russia, doctors in these cities witnessed more cases of the Russian flu, prompting them to write several medical dissertations on this epidemic. This study examines the Russian flu in Iran as documented in historical, journalistic, and medical records.

Background: Comparing the trends of mortality rates provides valuable insight for policy discussions and promotes awareness of health issues. This study aimed to investigate the changes in mortality rate and life expectancy from 2011 to 2021 and the effect of COVID-19 period on these indices.

Methods: We investigated the data of all-cause deaths between 2011 and 2021 by age group, sex and year using Excel spreadsheets from the National Organization for Civil Registration (NOCR), via collected the census method. Joinpoint regression was used to calculate the trend of mortality rate during the study period.

Results: During the study period, there were 262,708 deaths, of which 148,919 were men (56.68%). The trend of mortality rate in both sexes has been increasing. Life expectancy in men and women decreased from 76.71 and 80.82 in 2011 to 74.43 and 77.53 in 2021, respectively. From 2018 to 2021, there was a significant increase in standardized mortality rate in men (APC=14.74; 95% CI=5.73; 28.65) and women (APC=14.29; 95% CI=4.67; 28.97). However, from 2011 to 2018, we observed a yearly 2.65% decreasing trend in men which was statistically significant (APC=-2.95, 95% CI=-7.67, -0.84). In women, no significant trend was seen.

Conclusion: With the emergence of the COVID-19 epidemic in 2019, the trend of mortality rate and life expectancy changed completely, with additional deaths and decreasing life expectancy. Therefore, prevention, control and treatment of epidemic diseases should be a serious concern of policy makers.