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2.
Iran J Allergy Asthma Immunol ; 23(2): 158-167, 2024 Apr 07.
Article En | MEDLINE | ID: mdl-38822511

Patients with inborn errors of immunity (IEI) are among the high-risk groups regarding COVID-19. Receiving booster doses (third and fourth) in addition to the standard doses is recommended in these patients. This study investigated the antibody response before and after a booster dose of Sinopharm vaccine in IEI patients.  Thirty patients (>12 years) with antibody deficiencies, referred to Imam Khomeini Hospital and Children's Medical Center in Tehran, were enrolled in this prospective cross-sectional study. All patients were fully vaccinated with the BBIBP-CorV vaccine (2 doses of Sinopharm). Initial measurements of anti-receptor-binding domain (anti-RBD) and anti-nucleocapsid (anti-N) IgG antibody responses were conducted by enzyme-linked immunosorbent assay (ELISA). Subsequently, all patients received a booster dose of the vaccine. Four to six weeks after booster injection, the levels of antibodies were re-evaluated.  Twenty patients with common variable immunodeficiency (CVID), 7 cases with agammaglobulinemia and 3 patients with hyper IgM syndrome were studied. Anti-RBD IgG and anti-N IgG antibodies increased in all patients after the booster. Our results indicated the need of receiving booster doses of the COVID-19 vaccine in patients with antibody deficiencies, even for enhancing humoral immune response specially in patients with CVID.


Antibodies, Viral , COVID-19 Vaccines , COVID-19 , Immunization, Secondary , Immunoglobulin G , SARS-CoV-2 , Humans , Male , COVID-19/immunology , COVID-19/prevention & control , Female , COVID-19 Vaccines/immunology , COVID-19 Vaccines/administration & dosage , SARS-CoV-2/immunology , Antibodies, Viral/blood , Antibodies, Viral/immunology , Adult , Immunoglobulin G/blood , Immunoglobulin G/immunology , Cross-Sectional Studies , Adolescent , Iran , Prospective Studies , Antibody Formation/immunology , Vaccines, Inactivated/immunology , Vaccines, Inactivated/administration & dosage , Child , Middle Aged , Young Adult
3.
Genes Nutr ; 19(1): 5, 2024 Mar 12.
Article En | MEDLINE | ID: mdl-38475720

A major revelation of genome-scale biological studies in the post-genomic era has been that two-thirds of human genes do not encode proteins. The majority of non-coding RNA transcripts in humans are long non-coding RNA (lncRNA) molecules, non-protein-coding regulatory transcripts with sizes greater than 500 nucleotides. LncRNAs are involved in nearly every aspect of cellular physiology, playing fundamental regulatory roles both in normal cells and in disease. As result, they are functionally linked to multiple human diseases, from cancer to autoimmune, inflammatory, and neurological disorders. Numerous human conditions and diseases stem from gene-environment interactions; in this regard, a wealth of reports demonstrate that the intake of specific and essential nutrients, including vitamins, shapes our transcriptome, with corresponding impacts on health. Vitamins command a vast array of biological activities, acting as coenzymes, antioxidants, hormones, and regulating cellular proliferation and coagulation. Emerging evidence suggests that vitamins and lncRNAs are interconnected through several regulatory axes. This type of interaction is expected, since lncRNA has been implicated in sensing the environment in eukaryotes, conceptually similar to riboswitches and other RNAs that act as molecular sensors in prokaryotes. In this review, we summarize the peer-reviewed literature to date that has reported specific functional linkages between vitamins and lncRNAs, with an emphasis on mammalian models and humans, while providing a brief overview of the source, metabolism, and function of the vitamins most frequently investigated within the context of lncRNA molecular mechanisms, and discussing the published research findings that document specific connections between vitamins and lncRNAs.

4.
J Pharm Sci ; 113(7): 1865-1873, 2024 Jul.
Article En | MEDLINE | ID: mdl-38342338

Here, a novel targeted nanostructure complex was designed as an alternative to the traditional treatment approaches for breast cancer. A delivery system utilizing CuS nanoparticles (CuS NPs) was developed for the purpose of targeted administration of doxorubicin (Dox), an anticancer agent. To regulate Dox release, chitosan (CS), a biodegradable and hydrophilic polymer with biocompatible properties, was applied to coat the Dox-loaded CuS NPs. Furthermore, AS1411 aptamer, served as a targeting agent for breast cancer cells (MCF-7 and 4T1 cells), was conjugated with CS-Dox-CuS NPs effectively. To assess the effectiveness of APT-CS-CuS NPs, various methods such as flow cytometry analysis, MTT assay, fluorescence imaging, and in vivo antitumor efficacy were employed. The hollow core and porous surface of CuS NPs improved the Dox loading capacity and entrapment efficiency (almost 100%). The rate of drug release at the tumor site (citrate buffer with pH 5.6) exhibited a marked increase in comparison to that observed within the physiological environment (phosphate buffer with pH 7.4). The targeted formulation (APT-CS-Dox-CuS NPs) significantly increased cytotoxicity of the Dox payload in target cells, including 4T1 (p ≤ 0.0001 (****)) and MCF7 (p ≤ 0.01 (**)) cells compared to CHO cells. Moreover, the ability of tumor growth inhibition of the targeted system was significantly (p ≤ 0.05 (*)) more than free Dox in tumor-bearing mice. The findings indicate that the targeted formulation augmented effectiveness and specificity while minimizing harm to non-targeted cells, signifying its potential as a sophisticated cancer drug delivery system.


Aptamers, Nucleotide , Chitosan , Doxorubicin , Nanoparticles , Doxorubicin/administration & dosage , Doxorubicin/pharmacology , Doxorubicin/pharmacokinetics , Doxorubicin/chemistry , Chitosan/chemistry , Animals , Humans , Aptamers, Nucleotide/chemistry , Aptamers, Nucleotide/administration & dosage , Female , Nanoparticles/chemistry , Mice , MCF-7 Cells , Cell Line, Tumor , Antibiotics, Antineoplastic/administration & dosage , Antibiotics, Antineoplastic/pharmacokinetics , Antibiotics, Antineoplastic/pharmacology , Antibiotics, Antineoplastic/chemistry , Breast Neoplasms/drug therapy , Breast Neoplasms/pathology , Drug Delivery Systems/methods , Mice, Inbred BALB C , Drug Liberation , Drug Carriers/chemistry , Cricetulus , CHO Cells , Copper , Oligodeoxyribonucleotides
5.
PLoS One ; 19(2): e0282773, 2024.
Article En | MEDLINE | ID: mdl-38300917

AIMS: To evaluate the association between ideal cardiovascular health metrics (ICVHM) and incident low estimated glomerular filtration rate (eGFR) among the Iranian population. METHODS: The study population included 6927 Iranian adults aged 20-65 years (2942 male) without prevalent low eGFR [i.e., eGFR < 60 ml/min/1.73 m2] and free of cardiovascular disease. The ICVHM was defined according to the 2010 American Heart Association. The multivariable Cox proportional hazards regression analysis was used to calculate the hazard ratios (HRs) of ICVHM both as continuous and categorical variables. RESULTS: Over the median of 12.1 years of follow-up, we found 1259 incident cases of low eGFR among the study population. In this population, ideal and intermediate categories of body mass index (BMI) and blood pressure (BP) and only the ideal category of fasting plasma glucose (FPG) significantly decreased the risk of developing low eGFR; the corresponding HRs and (95% confidence intervals) were (0.87, 0.77-0.99), (0.84, 0.76-0.99), (0.79, 0.68-0.93), (0.70, 0.60-0.83) and (0.76, 0.64-0.91). Also, one additional ICVHM was associated with a reduced risk of low eGFR for the global (0.92, 0.88-0.97) and biological cardiovascular health (0.88, 0.82-0.93) in these participants. A sensitivity analysis using the interval-censoring approach demonstrated that our method is robust, and results remained essentially unchanged. In a subgroup population with dietary data (n = 2285), we did not find the beneficial impact of having intermediate/ideal categories of nutrition status compared to its poor one on incident low eGFR. CONCLUSION: We found a strong inverse association between having higher global ICVHM with incident low eGFR among the non-elderly Iranian population; the issue is mainly attributable to normal BP, BMI, and FPG levels.


Cardiovascular Diseases , Glucose , Adult , Humans , Male , Middle Aged , Follow-Up Studies , Quality Indicators, Health Care , Glomerular Filtration Rate , Iran/epidemiology , Lipids , Risk Factors , Incidence
6.
BMC Psychiatry ; 24(1): 30, 2024 01 08.
Article En | MEDLINE | ID: mdl-38191308

BACKGROUND: The ability to attribute mental states to others is called theory of mind (ToM) and is a substantial component of social cognition. This ability is abnormally developed in individuals with autism spectrum disorder (ASD). Several studies over the past decade have identified the oxytocin receptor gene (OXTR) and its variants as promising components for explaining the molecular mechanisms underlying Theory of Mind (ToM). The main aim of this study is to examine the association between rs2268498 and rs53576, two functional single nucleotide polymorphisms (SNPs), and verbal and non-verbal ToM in children and adolescents with ASD and a group of typically developing youth. METHODS: The study involved 44 children and adolescents with high-functioning ASD aged 8 to 18 years old and 44 TD individuals who were matched on age and sex. In all participants, blood samples were collected and rs2268498 and rs53576 were genotyped. Happe's Strange Stories test and the moving shapes paradigm were used to measure verbal and non-verbal ToM in all participants. RESULTS: The results of permutation tests and logistic regression suggested that in TD group, rs2268498 AA carriers showed significant higher scores in variables representing verbal ToM (ToM stories and appropriateness score) whereas, in ASD group, rs53576 AA carriers exhibited significant better performance in parameters related to non-verbal ToM (ToM general rule and intentionality score). The results of hierarchical clustering in both groups support the findings by distinguishing between language-related and language-independent aspects of ToM. CONCLUSIONS: In the present study, we examined the association between rs2268498 and rs53576 and social functioning in individuals with ASD and TD group. We found preliminary evidence that rs2268498 and rs53576 are associated with ToM related abilities in healthy individuals as well as in autistic individuals. Accordingly, rs2268498 and rs53576 may play an important role in predicting ToM capabilities. It will be necessary to conduct further research to address the association of genetic variants with a deficit in ToM in individuals with ASD.


Autism Spectrum Disorder , Theory of Mind , Child , Adolescent , Humans , Receptors, Oxytocin/genetics , Oxytocin , Autism Spectrum Disorder/genetics , Case-Control Studies
7.
J Drug Target ; 31(9): 986-997, 2023 12.
Article En | MEDLINE | ID: mdl-37869893

Chemotherapy has been widely acknowledged as a primary approach for cancer treatment. However, the administration of chemotherapy agents is often limited by their adverse effects that result from an inability to distinguish between healthy and malignant cells. As such, utilising nanocarriers in targeted drug delivery can significantly reduce these side effects while enhancing therapeutic efficacy. Herein, we developed copper sulphide nanoparticles (CuSNPs) loaded with epirubicin (Epi) coated by polyarginine and 5TR1 aptamer (CEPA) to target mucin-1 which is overexpressed on various types of cancer cells. MTT results revealed that CEPA significantly induced cytotoxicity of the drug in desired cell lines (C26 and MCF-7, mucin+) compared to CEPA-treated CHO cells (non-target, mucin-), verifying the targeting ability of CEPA complex. The obtained results from both flow cytometry analysis and cell imaging demonstrated that CEPA complex had successful internalisation in both target cell lines but no internalisation in CHO cell line. The result of in vivo assay showed more tumour inhibition and more accumulation in tumour tissue for CEPA complex in comparison to free Epi. To conclude, the CEPA complex has demonstrated superior efficacy and fewer adverse reactions compared to Epi. This indicates a promising and effective strategy for treating cancer.


Copper , Nanoparticles , Cricetinae , Animals , Humans , Epirubicin/pharmacology , Epirubicin/therapeutic use , Cricetulus , Cell Line, Tumor , MCF-7 Cells , Drug Delivery Systems/methods , Mucins
8.
J Mol Neurosci ; 73(9-10): 738-750, 2023 Oct.
Article En | MEDLINE | ID: mdl-37668894

Discovery and validation of new, reliable diagnostic and predictive biomarkers for schizophrenia (SCZ) are an ongoing effort. Here, we assessed the mRNA expression and DNA methylation of the TCF4, MBP, and EGR1 genes in the blood of patients with SCZ and evaluated their relationships to psychopathology and cognitive impairments. Quantitative real-time PCR and quantitative methylation-specific PCR methods were used to assess the expression level and promoter DNA methylation status of these genes in 70 drug-free SCZ patients and 72 healthy controls. The correlation of molecular changes with psychopathology and cognitive performance of participants was evaluated. We observed downregulation of TCF4 and upregulation of MBP mRNA levels in SCZ cases, relative to controls in our study. DNA methylation status at the promoter region of TCF4 demonstrated an altered pattern in SCZ as well. Additionally, TCF4 mRNA levels were inversely correlated with PANSS and Stroop total errors and positively correlated with WAIS total score and working memory, consistent with previous studies by our group. In contrast, MBP mRNA level was significantly positively correlated with PANSS and Stroop total errors and inversely correlated with WAIS total score and working memory. These epigenetic and expression signatures can help to assemble a peripheral biomarker-based diagnostic panel for SCZ.


Cognitive Dysfunction , Schizophrenia , Humans , Genetic Predisposition to Disease , DNA Methylation , Cognitive Dysfunction/genetics , Gene Expression , Intelligence , RNA, Messenger/genetics , RNA, Messenger/metabolism , Early Growth Response Protein 1/genetics , Early Growth Response Protein 1/metabolism , Transcription Factor 4/genetics , Transcription Factor 4/metabolism
9.
J Clin Immunol ; 43(8): 1941-1952, 2023 Nov.
Article En | MEDLINE | ID: mdl-37584719

PURPOSE: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4 + T cells results in combined immunodeficiency (CID). Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy. METHODS: We describe the clinical, immunologic, and genetic features of eighteen unrelated Iranian patients with MHC-II deficiency. RESULTS: Consanguinity was present in all affected families. The median age at the initial presentation was 5.5 months (range 7 days to 18 years). The main symptoms included failure to thrive, persistent diarrhea, and pneumonia. Autoimmune and neurologic features were also documented in about one-third of the patients, respectively. Thirteen patients carried RFXANK gene mutations, two carried RFX5 gene mutations, and three carried a RFXAP gene mutation. Six patients shared the same RFXANK founder mutation (c.162delG); limited to the Iranian population and dated to approximately 1296 years ago. Four of the patients underwent HSCT; three of them are alive. On the other hand, nine of the fourteen patients who did not undergo HSCT had a poor prognosis and died. CONCLUSION: MHC-II deficiency is not rare in Iran, with a high rate of consanguinity. It should be considered in the differential diagnosis of CID at any age. With the limited access to HSCT and its variable results in MHC-II deficiency, implementing genetic counseling and family planning for the affected families are mandatory. We are better determined to study the c.162delG RFXANK heterozygous mutation frequency in the Iranian population.


DNA-Binding Proteins , Severe Combined Immunodeficiency , Transcription Factors , Humans , Infant, Newborn , DNA-Binding Proteins/genetics , Histocompatibility Antigens Class II/genetics , Iran , Mutation/genetics , Severe Combined Immunodeficiency/genetics , Transcription Factors/genetics
10.
J Inj Violence Res ; 15(2): 171-178, 2023 Jul.
Article En | MEDLINE | ID: mdl-37551417

BACKGROUND: Very few studies have investigated athletes with disabilities during a long period of competitions, such as a professional league. Also, there are limited findings related to specific mechanisms and risk factors of injury, and prevention strategies in Wheelchair Basketball. Therefore, the objective of this study was to investigate the rate and characteristics of injuries in the 2021-2022 Iran Wheelchair Basketball League and present prevention strategies. METHODS: This retrospective study was conducted after the 2021-2022 (Mar 2021-Sep 2022) competition season. The sample size consists of 36 players, who were randomly selected among 129 players. All the data was processed using SPSS (version 21). RESULTS: 111 injuries were registered, equivalent to 132 per 100 players (95% CI: 100-180) and 8.16 Injuries per 1000 hours of athlete exposure (6.2-9.8). Also, 77.8% occurred during training and 22.2% in competitions. Most injuries affected the fingers and hands (35.13%), and shoulders (22.57%). The most common types of injuries were contusions (30.63%), laceration and skin lesion (23.42%), and muscle spasms (13.51%), in which, half of the injuries were slight (0-1 days), 27.8% (mild 4-7 days), and 22.2% moderate (8-28 days). Also, 66.9% of injuries were new, and 33.1% were recurrent. Most situations and actions leading to injury include quick wheelchair pushing (29.72%), the intense ball hitting (17.14%), and sudden stops or changes of direction of the wheelchair (12.63%). A multiple linear regression analysis (Enter method) demonstrated (R2 Adjusted=0.530) Wheelchair inappropriateness (P=0.015), lack of protective equipment (P=0.028), and previous injury (P=0.003) explained close to 55% of the injury rate. CONCLUSIONS: The injury rate during the league period was higher than the amounts reported from Paralympic games. Prevention strategies should be focused on rethinking athletes' pre-season readiness evaluation, return to play assessments and protection equipment technologies.


Athletic Injuries , Basketball , Wheelchairs , Humans , Athletic Injuries/epidemiology , Athletic Injuries/prevention & control , Retrospective Studies , Basketball/injuries , Iran/epidemiology , Incidence , Risk Factors
11.
Ophthalmol Sci ; 3(2): 100247, 2023 Jun.
Article En | MEDLINE | ID: mdl-36748061

Purpose: Keratoconus (KC) is the most common primary ectatic corneal disease, characterized by progressive thinning of the cornea, affecting its shape and structure and leading to visual loss. Lysyl oxidase is an important component of the extracellular matrix and contributes to the homeostasis of corneal stromal extracellular matrix via enzymatic reaction. This nationwide registration study aims to examine the association of KC with 2 known single nucleotide polymorphisms, rs2956540 and rs10519694, in a population of Iranian descent. Design: Case-control. Participants: One hundred seventy-eight subjects with KC and 180 clinically healthy subjects participated in the study. Methods: Genomic DNA was extracted from peripheral blood samples, and their genotypes were determined using tetra-primer amplification refractory mutation system-polymerase chain reaction. Main Outcome Measures: Allele frequency for rs2956540 and rs10519694. Results: Genotype frequency was significantly different between cases and controls for rs2956540 (P value = 0.019). The rs2956540 C allele carriers were significantly more frequent among KC cases than healthy controls (P valuechi-square = 0.015, P valueFisher exact = 0.017). There was a significant difference in genotype frequency between groups for rs10519694 (P value = 0.001). T allele carriers were significantly more frequent among KC patients (P valuechi-square = 0.002, P valueFisher exact = 0.001). Sex stratification revealed no significant differences in genotype frequency between males and females in cases and controls. Fitting the general linear model showed that rs10519694 could be considered a predictor for the development of KC (P value = 0.001); however, this was not observed for rs2956540 (P value = 0.323). Conclusions: rs2956540 and rs10519694 are associated with KC in a population of Iranian descent. rs10519694 could potentially be used for KC risk prediction.

12.
Mol Biol Rep ; 50(3): 2633-2639, 2023 Mar.
Article En | MEDLINE | ID: mdl-36639522

OBJECTIVE: Schizophrenia is an acute mental disorder with an undefined etiology. Its high heritability suggests that several genetic variants and polymorphisms may contribute to the severity and emergence of its symptoms. Former molecular evidence has shed some light on the association of serotonergic pathway genetic polymorphisms with schizophrenia. This study aimed to investigate the association between schizophrenia and two SNPs from one haplotype block, which lies in the 5-hydroxytryptamine receptor 2 A (5-HTR2A) gene in the Iranian population. MATERIAL AND METHODS: Blood samples were collected from one-hundred and fifty-two patients diagnosed with schizophrenia and one-hundred and fifty-eight cases of the healthy control, who were matched in terms of age and gender. The participants were genotyped for rs6311 and rs6313 using PCR-RFLP. R programming language and Haploview software were respectively leveraged for statistical and haplotype inferencing. RESULTS: The results showed that there was no significant association between rs6313 and schizophrenia. However, the rs6311 T allele was independently associated with schizophrenia, and it was significantly associated with SCZ in an rs6311-rs6313 haplotype. Moreover, the general linear model confirmed the potential predictor role of rs6311 for schizophrenia and the C allele of rs6313 demonstrated a higher frequency among females compared to males. CONCLUSION: The findings of this study indicated the association of rs6311 and rs6311-rs6313 haplotype with schizophrenia in the Iranian population and also suggested a potential schizophrenia risk predictor role for rs6311.


Schizophrenia , Male , Female , Humans , Schizophrenia/genetics , Iran , Polymorphism, Single Nucleotide/genetics , Polymorphism, Restriction Fragment Length , Genetic Predisposition to Disease , Receptors, Serotonin/genetics , Receptor, Serotonin, 5-HT2A/genetics
13.
Infect Disord Drug Targets ; 23(1): e100622205846, 2023.
Article En | MEDLINE | ID: mdl-35692134

BACKGROUND: Novel coronavirus causes coronavirus disease -19 (COVID-19). The hallmark is acute respiratory distress syndrome, but other systems' involvement is less illustrated. Our goal was to evaluate the manifestation of COVID-19 on one of the overlaps of the cardiovascular and nervous system, namely: Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Hypotension (OH). METHODS: This single-center cross-sectional observational study encompassed 60 consecutive patients that were hospitalized and recovered from severe or critical COVID-19. At the time of discharge, Blood Pressure (BP) and Heart Rate (HR) in the supine and upright position (1st, 3rd, 5th and 10th minutes) were measured. Symptomatic patients were reevaluated 2 months later. RESULTS: The mean age of patients was 56.6 (± 16.2) years and 42 patients were male (70%). The most frequent cardiovascular risk factor was hypertension (35%). OH and POTS were detected in 29(48.3%) and 10(16.7%) patients, respectively, at the time of hospital discharge. The mean age of patients with OH was higher than POTS and POTS was frequent in the elderly. Two months later, among 10 patients with POTS, the sign and symptoms were resolved in 8(80%). Two (20%) patients who still had positive signs and symptoms of POTS were older than 65 years. Among 29 patients with OH, the signs and symptoms were resolved in 26 (89.7%). CONCLUSION: In our study, 65% of patients had OH or POTs on the day of hospital discharge; complete recovery is gradual and needs several additional weeks. This is one of the aspects of the entity recently named "Long COVID".


COVID-19 , Hypotension, Orthostatic , Postural Orthostatic Tachycardia Syndrome , Humans , Male , Aged , Adult , Middle Aged , Female , Postural Orthostatic Tachycardia Syndrome/epidemiology , Postural Orthostatic Tachycardia Syndrome/diagnosis , Hypotension, Orthostatic/etiology , Hypotension, Orthostatic/diagnosis , Cross-Sectional Studies , Tilt-Table Test , COVID-19/complications
14.
Basic Clin Neurosci ; 13(2): 269-274, 2022.
Article En | MEDLINE | ID: mdl-36425948

Introduction: Alexander disease is a heterogeneous group of diseases with various manifestations based on the age of disease onset. This rare leukodystrophy syndrome with mutations in the GFAP gene could present with developmental delay and seizure in the infantile form to ataxia and bulbar palsy in adulthood. However, psychiatric symptoms are not well-defined and are usually evaluated after disease diagnosis, not before disease investigations. Case Report: Our patient is a 52-year-old Iranian woman with a history of depression since 17 years ago, a suicidal attempt two years ago, and ingestion of a large amount of opium with the intention of suicide 2 months ago. She was presented with disorientation and probably a delirious state in the last interview. Eventually, in comprehensive investigations, white matter hyperintensity in MRI and leukodystrophy was diagnosed to determine the cause of these changes, we did a gene study, found whole exon deletion of the GFAP gene, and made a diagnosis of late-onset Alexander disease. Conclusion: Neurological-onset manifestation of Alexander disease, specifically late-onset form, is the most common clinical picture of disease and was seen in about 90% of patients, but psychiatric symptoms are not well-known, and psychiatric-onset disease was not described yet. Various gene mutations were described in late-onset Alexander disease; however, the large whole exon deletion which was revealed in our patient is a novel mutation and significantly needs to be explored. Here authors describe a late-onset Alexander disease with psychiatric-onset symptoms and novel large exon deletion in the GFAP gene. Highlights: Alexander disease is a rare heterogeneous disorder that could have various symptoms of the central nervous system involvement.The whole-exons deletion of the GFAP gene in an adult patient with features of Alexander disease is the first Gene mutation that was revealed in this case.Psychiatric onset Alexander disease is the one differential diagnosis in the patients with atypical psychiatric symptoms combined with soft neurological signs.Neurologic consultation and appropriate imaging and laboratory procedures could help early diagnosis and potential treatment. Plain Language Summary: Patients with atypical psychiatric symptoms are usually visited more times in the year without any significant benefit. They receive numerous medications and encounter significant complications due to mentioned polypharmacy. However, genetic, metabolic, or neurological causes could be considered in some treatment-resistant cases. We described the rare genetic disorder(Late-Onset Alexander disease) in the Iranian woman with atypical and treatment-resistant depression with suicidal attempts. We proposed holistic assessment in the patients with psychiatric symptoms which have atypical course or response to treatment or are accompanied by neurological and cognitive symptoms.

15.
J Diabetes Metab Disord ; 21(1): 835-840, 2022 Jun.
Article En | MEDLINE | ID: mdl-35673439

Background: Diabetes mellitus (DM) is a common serious health problem. Medication adherence is a crucial determinant of therapeutic success in patients with diabetes mellitus. This study aims to examine the 8-item Morisky Medication Adherence Scale (MMAS-8) psychometric properties among diabetic patients. Methods: This study was carried out at the Internal Medicine clinic of Firooz Abadi Hospital in Tehran, Iran, from 2018 to 2020. The English version of the MMAS-8 was translated into Persian and administered to patients with diabetes mellitus. A total of 150 patients who had diabetes were included. Cronbach's alpha was calculated to assess the reliability. Results: According to the recommended scoring method, the Mean ± SD of MMAS-8 scores was 4.97 ± 1.92. Good internal consistency was found in our study (Cronbach's α = 0.70). Not any significant relationship between MMAS-8 categories and occurrence of complications was found. Conclusions: The findings of this validation study indicate that the Persian version of the MMAS-8 is a reliable measure of medication adherence, but it has not acceptable validity. Further studies are needed to reach a good validity.

16.
Sci Rep ; 12(1): 1336, 2022 01 25.
Article En | MEDLINE | ID: mdl-35079035

Schizophrenia is a severe, disabling psychiatric disorder with unclear etiology. Family-based, twins, and adoption studies have shown that genetic factors have major contributions in schizophrenia occurrence. Until now, many studies have discovered the association of schizophrenia and its comorbid symptoms with functional polymorphisms that lie within serotonin reuptake pathway genes. Here, we aimed to investigate the association of three variable number tandem repeats (VNTR) functional polymorphisms in MAOA and SLC6A4 with schizophrenia in the Iranian population. Two hundred and forty-one subjects with schizophrenia and three hundred and seventy age and sex-matched healthy controls were genotyped for MAOA promoter uVNTR, 5-HTTLPR, and STin2 polymorphisms. Genotyping was performed by polymerase chain reaction (PCR) with locus-specific primers and running the PCR product on agarose 2.5% gel electrophoresis. Finally, the statistical inference was performed using R programming language and Haploview software. MAOA promoter uVNTR analysis of allele frequency showed no differences between schizophrenia subjects and healthy controls in both males and females and no significant differences were observed between female cases and female controls in MAOA promoter uVNTR 4 repeat frequency. Also, there were no differences between Schizophrenia and healthy control groups in 5-HTTLPR allele and genotype frequency but, 5-HTTLPR S allele carriers are significantly more frequent among cases. In addition, STin2.12 repeats were significantly more frequent among schizophrenia patients. Genotype comparison suggested that 5-HTTLPR S allele and STin2.12 repeat carriers were significantly more frequent among schizophrenia cases and being STin2.12 repeat carrier significantly increase the risk of schizophrenia occurrence. Besides, analysis of haplotype showed stronger linkage disequilibrium between 5-HTTLPR and STin2 haplotype block in cases than controls. These results suggest that SLC6A4 functional polymorphisms potentially could play a possible role as risk factors for the incidence of schizophrenia.


Monoamine Oxidase/genetics , Schizophrenia/genetics , Serotonin Plasma Membrane Transport Proteins/genetics , Adult , Case-Control Studies , Female , Haplotypes , Humans , Male , Middle Aged , Minisatellite Repeats , Polymorphism, Single Nucleotide
17.
J Matern Fetal Neonatal Med ; 35(18): 3612-3619, 2022 Sep.
Article En | MEDLINE | ID: mdl-33076724

BACKGROUND: Assessment of women's childbirth experience is an important indicator in maternity services. Positive childbirth experiences improve mothers' health, whereas negative childbirth experiences can cause psychological stresses and, in extreme cases, may lead to postpartum depression. METHODS: In this cohort study, 204 women at 35-37 weeks of gestation were selected using cluster sampling from the health centers of Tabriz, Iran. Women were divided into three groups (68 women in each group) based on their attendance in childbirth preparation classes: (a) non-attenders (did not attend any sessions), (b) irregular attenders (attended 1-3 sessions), and (c) regular attendants (attended 4-8 sessions). Interviews were conducted at one month postpartum to complete the Childbirth Experience Questionnaire (CEQ) and Edinburgh Postnatal Depression Scale (EPDS). The general linear model (GLM) was used to identify associations between women's attendance to the classes and either their childbirth experience or postpartum depression scores. RESULTS: Based on the GLM, the mean score of childbirth experience among the regular attenders was significantly higher than women who were irregular attenders (p = .032) or non-attenders (p < .001). In addition, the mean score of postpartum depression scale was significantly lower among regular attenders compared with non-attenders (p < .001). However, there was no significant difference in postpartum depression score among regular and irregular attenders (p = .257). CONCLUSIONS: Attending prenatal classes was associated with positive childbirth experience and low postpartum depression score.


Depression, Postpartum , Prenatal Education , Cohort Studies , Delivery, Obstetric/psychology , Depression, Postpartum/epidemiology , Depression, Postpartum/psychology , Female , Humans , Parturition/psychology , Postpartum Period/psychology , Pregnancy , Surveys and Questionnaires
18.
Midwifery ; 103: 103154, 2021 Dec.
Article En | MEDLINE | ID: mdl-34627102

OBJECTIVE: to evaluate the perceptions of primiparous women about the effect of childbirth preparation classes on their childbirth experience. DESIGN: descriptive qualitative study. PARTICIPANTS AND SETTING: 13 Iranian women who participated in childbirth preparation classes and had a vaginal delivery were interviewed. MEASUREMENTS: semi-structured interviews were used to collect data. FINDINGS: six main themes were extracted from the data analysis: incentive and learning about pregnancy and childbirth; active participation in labour; sense of self-control; use of non- medical pain relief methods during labour; preferring vaginal birth to caesarean section; and positive childbirth experience. KEY CONCLUSIONS: women reported that participation in childbirth preparation classes prepared them well for a vaginal birth, and these classes were perceived to be associated with a positive childbirth experience. IMPLICATIONS FOR PRACTICE: attendance at childbirth preparation classes is perceived to have a positive effect on vaginal birth. Therefore, encouraging and supporting women to attend the full course of classes has the potential to increase women's preference towards vaginal birth, resulting in a reduction in the caesarean section rate.


Cesarean Section , Parturition , Delivery, Obstetric , Female , Humans , Iran , Perception , Pregnancy
19.
Clin Case Rep ; 9(4): 2174-2178, 2021 Apr.
Article En | MEDLINE | ID: mdl-33936658

In this study, while presenting a clinical case with early psychiatric manifestations, we emphasized the need to pay attention to neurological diagnoses such as Anti N-Methyl-D-Aspartate Receptor (NMDAR) encephalitis at the time of manifestation of these common symptoms.

20.
Nurs Open ; 8(5): 2558-2566, 2021 09.
Article En | MEDLINE | ID: mdl-33626230

AIM: To compare primiparous women's childbirth knowledge and their satisfaction with the childbirth preparation classes between regular and irregular attenders. DESIGN: A cross-sectional study. METHOD: This study was conducted on 136 primiparous pregnant women attending health centres in Tabriz, Iran. Women's knowledge on childbirth and their satisfaction with childbirth preparation classes were measured by using reliable tools via interviews. An independent t test was applied to compare women's knowledge and satisfaction scores between regular and irregular attenders. RESULTS: The mean score of knowledge was significantly higher among women who were regular attenders compared to irregular attenders (p < .001). Although there were no significant differences in total satisfaction score between the women (p = .342), women with regular attendance reported that childbirth preparation classes reduced their anxiety about labour. CONCLUSIONS: Regular attendance at childbirth preparation classes is associated with higher women's knowledge and lower feelings of anxiety regarding labour and birth.


Personal Satisfaction , Prenatal Education , Cross-Sectional Studies , Female , Humans , Parturition , Pregnancy , Prenatal Care
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