{"title":"Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease","authors":"Masoumeh Mohebbi, Matin Heidari, Mansour Heidari","doi":"10.18502/acta.v61i6.13832","DOIUrl":"https://doi.org/10.18502/acta.v61i6.13832","url":null,"abstract":"Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents were then amplified through polymerase chain reaction (PCR) and the obtained products were screened for mutations in ABCA4 gene by Sanger chain terminating dideoxy nucleotide sequencing. Two novel potentially pathogenic mutations in compound heterozygous state (c.2713del p.E905Rfs*27 and c.5172G>A p.W1724X) were identified in ABCA4 gene which may contribute to the proband’s Stargardt disease phenotype. In general, the WES successfully identified novel causal mutations in ABCA4 gene which may be used for genetic counseling, prenatal diagnosis (PND), and preimplantation genetic diagnosis (PGD) of Stargardt disease.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135918425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prolonged Intrauterine Fetal Bone Retention Following a Neglected Pregnancy: A Case Report","authors":"Maryam Hajihashemi, Fereshteh Mohammadizadeh, Behnoosh Mohamadi Jazi, Amirhossein Pezeshki, Leila Mousavi Seresht, Fedyeh Haghollahi","doi":"10.18502/acta.v61i6.13838","DOIUrl":"https://doi.org/10.18502/acta.v61i6.13838","url":null,"abstract":"
 
 
 We describe a case of prolonged intrauterine fetal bone retention following a neglected pregnancy. A 43-year-old rural woman had one year history of malodorous vaginal discharge. She underwent medical treatment with broad spectrum antibiotics. Four days following the onset of antibiotic therapy, cystoscopy and hysteroscopy were done. Incredibly, some bony-like pieces were extracted by instrument from endocervical canal. Intrauterine retention of fetal bones, although rare, should be considered as a possibility in cases with unexplained abdominal pain, dysmenorrhea, dyspareunia, and long period infertility. Hysteroscopy is the best modality for diagnosis and may be enough for management of the condition in many cases. However, in complicated cases, hysterectomy would be inevitable.
 
 
","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135918651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Associated Factors and Common Pathogens of Positive Cultures in Infants With Definitive Septicemia Admitted to NICU","authors":"Mamak Shariat, Bolfazl Baghban Youssefkhani, Hosein Dalili, Negar Hajinasab, Nahid Farrokhzad, Zohreh Nozarian, Soufi Enayati Yasamin, Farima Raji","doi":"10.18502/acta.v61i6.13836","DOIUrl":"https://doi.org/10.18502/acta.v61i6.13836","url":null,"abstract":"
 
 
 Immune system immaturity in newborns exposes them to infections, among which bloodstream infection is of great importance due to high mortality and morbidity and treatment costs. The aim of the present study was to evaluate common pathogens in blood culture positive cases and its determinants. This study was conducted in two phases, including a cross-sectional phase to collect the cases of definitive septicemia and a case-control phase on neonates admitted to the Neonatal Intensive Care Unit of Vali-e-Asr Hospital with clinical suspicion of sepsis during 2015-2019. The eligible cases were selected based on the study criteria. After extracting descriptive statistics, to evaluate causal relationships, culture-positive and culture negative cases were compared in terms of neonatal disease in the second phase. SPSS-22 was used for data analysis. The most common bacterial families were Staphylococcus (34.30%), Acinetobacter (10.46%), and Klebsiella (7.55%), among which coagulase negative Staphylococcus was the most common organism (13.08%). The most common antibiotics prescribed were ampicillin (75.1%), amikacin (58%), and gentamycin (44.8%). Factors that had a significant association were the occurrence of septicemia were gestational hypertension, premature rupture of membranes, conjunctivitis, TORCH infections, and low gestational age. The results of this study will be helpful in anticipation and management of neonatal septicemia through shedding light on some determinants of common blood culture pathogens like infections and obstetric complications in NICU admitted neonates.
 
 
","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135918945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jalal Karimi, Zahra Montaseri, Hojatolah Najafi, Zahra Rahimi Asl
{"title":"COVID-19 Misdiagnosis Due to Atypical Symptoms: A Case Report","authors":"Jalal Karimi, Zahra Montaseri, Hojatolah Najafi, Zahra Rahimi Asl","doi":"10.18502/acta.v61i6.13839","DOIUrl":"https://doi.org/10.18502/acta.v61i6.13839","url":null,"abstract":"
 
 
 COVID-19 has recently become a pandemic. Early diagnosis and the transmission chain cutting off are critical keys to controlling this disease and stopping its spread. In this case report, the significance of proper and on-time diagnosis is discussed. Misdiagnosis of COVID-19 may lead to delay in early diagnosis of the disease. A 78-year-old man with the chief complaint of dark stool and constipation was admitted. Based on the preliminary complaints of the patient, the emergency medical specialist transferred him to the internal caregiving service, but according to radiological findings and his positive Real-time PCR test, COVID-19 was the final diagnosis. Healthcare planners and policymakers should prepare precise clinical guidelines that are compatible with domestic conditions of the country to improve the ability of healthcare providers to diagnose patients with COVID-19 to promote controlling this condition.
 
 
","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135918427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association of Maternal Diabetes and ADHD in Offspring: A Systematic Review and Meta-Analysis","authors":"Batool Okhovat Isfahani, Farzad Khodamoradi","doi":"10.18502/acta.v61i6.13829","DOIUrl":"https://doi.org/10.18502/acta.v61i6.13829","url":null,"abstract":"A systematic review and meta-analysis was conducted to determine the association between exposure to maternal diabetes and ADHD in the offspring. Major electronic databases, including Web of Science, PubMed, Scopus, Embase, and Proquest, were searched from inception until December 2018. The New Castle-Ottawa scale was used to assess the quality of the included studies. A fixed effects model was applied for analysis. Seven studies including a total of 5,658,871 individuals were retained. A significant association was found between maternal diabetes and ADHD [OR=1.23, 95% CI: 1.117, 1.345]. There was a significant heterogeneity (I^2=77.7, P<0.0001), while Egger’s and Begg’s test were not significant. This study showed a significant relationship between maternal diabetes and ADHD; however, more well-designed studies are needed to confirm the results.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135918946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Sanati, M. Noruzinia, D. Jafari, M. Ahmadvand, S. Teimourian, N. Daryani, N. Rezaei
{"title":"Abnormal Promoter Methylation of Nucleotide-Binding Oligomerization Domain Containing 2 (NOD2) Gene in the Pathogenesis of Crohn’s Disease","authors":"G. Sanati, M. Noruzinia, D. Jafari, M. Ahmadvand, S. Teimourian, N. Daryani, N. Rezaei","doi":"10.18502/acta.v61i5.13480","DOIUrl":"https://doi.org/10.18502/acta.v61i5.13480","url":null,"abstract":"Changes in the expression of nucleotide-binding oligomerization domain containing 2 (NOD2) play an important role in the pathogenesis of several autoimmune diseases, such as inflammatory bowel diseases (IBD), including Crohn’s disease (CD) and ulcerative colitis (UC). It seems that epigenetic modifications, including DNA methylation, have an important role in the suppression of gene activity. In this study, the relationship between DNA methylation patterns of the promoter region of the NOD2 gene and the pathogenesis of CD was assessed. Colonic mucosal samples were obtained from 15 Iranian patients with CD and 15 matched healthy controls with no history of autoimmune diseases. After bisulfite conversion of genomic DNA, the DNA methylation status of three CpG sites in the promoter region of the NOD2 gene was determined by the real-time quantitative multiplex methylation-specific PCR assay. Using this approach, we identified a decreased level of methylation of the NOD2 promoter in the colonic mucosa of patients with CD (0.128±0.093 vs. 0.025±0.016, unmethylated DNA in CD vs. healthy controls, respectively, P<0.000). According to our findings, promoter hypomethylation of the NOD2 gene in the colonic mucosa might contribute to the development and severity of CD.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46598940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Farzane Zare, Jamileh Farokhzadian, Monirsadat Nematollahi, Sakineh Miri, Mohammad Ali Zakeri, Golnaz Foroughameri
{"title":"Therapeutic Communication Skills Training: An Effective Tool to Improve the Caring Behaviors of ICU Nurses","authors":"Farzane Zare, Jamileh Farokhzadian, Monirsadat Nematollahi, Sakineh Miri, Mohammad Ali Zakeri, Golnaz Foroughameri","doi":"10.18502/acta.v61i5.13486","DOIUrl":"https://doi.org/10.18502/acta.v61i5.13486","url":null,"abstract":"Caring behaviors are crucial in intensive care units (ICU) because patients in these wards require high levels of care. Effective communication with patients is one of the most important factors in the caring behaviors of nurses working in ICUs. This study aimed to evaluate the effect of therapeutic communication skills training on the caring behaviors of ICU nurses. This experimental pre-test/post-test study was carried out on 105 nurses working in ICUs of hospitals affiliated with Yazd University of Medical Sciences in Iran in 2019. Nurses were randomly assigned into control (52 nurses) and intervention (53 nurses) groups. A two-day therapeutic communication training workshop was conducted for the participants. Data were collected using a demographic information questionnaire and caring behaviors questionnaire before and one month after the intervention. The findings showed no significant difference between the control and intervention groups regarding the nurses' caring behaviors in the pretest (P=0.148). However, after the implementation of the training program, a significant difference was observed in the mean scores of caring behaviors between the two groups. In the control group, the mean scores of caring behaviors decreased significantly after the intervention (P=0.001); whereas, the mean scores of the intervention group increased significantly after the intervention (P=0.001). According to the results, ICU nurses' training in therapeutic communication skills had a positive effect on their caring behaviors. Therefore, we suggest the authorities prepare and implement educational packages of therapeutic communication skills as a coherent program for other nurses. As a result, the caring behaviors and the quality of care can be improved for patients.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"66 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135181746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vahid Asgharzadeh, Mir Reza Valiollahzadeh, Zahra Taghinejad, Mohammad Asgharzadeh, Jalil Rashedi, Behroz Mahdavi Poor, Hossein Jalaei Nobari, Ahmad Ali Khalili, Yousof Khairy, Amir Ali Mir Mazhari
{"title":"COVID-19 and Diabetes","authors":"Vahid Asgharzadeh, Mir Reza Valiollahzadeh, Zahra Taghinejad, Mohammad Asgharzadeh, Jalil Rashedi, Behroz Mahdavi Poor, Hossein Jalaei Nobari, Ahmad Ali Khalili, Yousof Khairy, Amir Ali Mir Mazhari","doi":"10.18502/acta.v61i5.13479","DOIUrl":"https://doi.org/10.18502/acta.v61i5.13479","url":null,"abstract":"Following the discovery of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in China, it has been transmitted to travelers through respiratory droplets and distributed worldwide. Viral, environmental, and host factors all play a role in getting infected with the virus and having severe forms of the disease named coronavirus disease 2019 (COVID-19). Diabetes is one of the most important host risk factors in the progression and severity of COVID-19. In diabetes, hyperglycemia and protein glycosylation increase pro-inflammatory cytokines levels and suppress innate and adaptive immune system by impairing the function of neutrophils, macrophages, and lymphocytes, especially regulatory T lymphocytes. The compromised immune system in diabetic patients makes them vulnerable to infectious diseases like COVID-19. Correspondingly, people with diabetes are usually treated with angiotensin-converting enzyme (ACE) inhibitors and angiotensin II Type-I receptor blockers (ARBs), which increase ACE2 expression as a receptor for SARS-CoV-2. Thus, diabetic patients are more likely to develop severe forms of COVID-19 and die due to chronic inflammation and impaired immune function.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135182624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assessment of Infantile Psychomotor Development Status in 6 and 12-Month-Old IUGR Infants: A Historical Cohort Study","authors":"F. Nayeri, S. Bahadoram, Z. Farahani, M. Shariat","doi":"10.18502/acta.v61i5.13483","DOIUrl":"https://doi.org/10.18502/acta.v61i5.13483","url":null,"abstract":"Intrauterine growth restriction (IUGR) is responsible for different post-natal adverse outcomes. This study aimed to evaluate the post-natal psychomotor development status in 6 and 12-month-old IUGR infants who received early preventive interventions. A historical cohort study was done at an Iranian Hospital (2019). The case group included one-year-old infants with a history of IUGR at birth. This group was visited every 2 months to evaluate their growth and neurodevelopmental status. Their parents had also received some training to improve their infant's sensory and motor skills. The control group comprised one-year-old healthy infants with a history of appropriate for gestational age (AGA) at birth. Data related to psychomotor developmental indices based on the ASQ questionnaire at 6 and 12-month for both groups was extracted from subjects' records. Infants' psychomotor development status was compared between groups. Forty-one infants with a history of IUGR and 43 healthy control infants were included in this study. There were significant differences between 2 groups associated with abnormalities in all evaluated psychomotor skills, including gross motor (P=0.014), problem-solving ability (P=0.049), communication (P=0.031), fine motor (P=0.016) and personal-social (P=0.016) at 6 months. After one year of family-based interventions for the case group, significant differences between groups were notable in only fine motor (P=0.016) and personal-social skills (P=0.031). At 12 months, the psychomotor disorders related to gross motor, problem-solving ability, and communication were significantly alleviated in the IUGR group. Early preventive family-based interventions can improve the neurodevelopmental outcomes in 12-month-old IUGR infants.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43184005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prevalence of Foreign Bodies Ingestion in Children","authors":"Omar Ajaj","doi":"10.18502/acta.v61i5.13485","DOIUrl":"https://doi.org/10.18502/acta.v61i5.13485","url":null,"abstract":"Foreign body ingestion is one of the common pediatric emergency conditions and can lead to childhood morbidity, and mortality. We think that the results of this study will be of utmost usefulness for pediatric surgeons when considering foreign bodies' ingestion in children. We decided to study the age distribution, nature, the site of impaction, and fate of foreign body ingestion in children. This cross-sectional study was conducted on 77 children with foreign body ingestion, from February 2017 to July 2021(54 months). A total of 77 patients with foreign body ingestion were diagnosed during the study period. Forty percent were boys and 60% were girls. The maximum age of participants was 1-2 years, accounting for 55%. Batteries were the most common foreign bodies ingested accounting for 26% followed by magnets (13%), and coins 6.5%. The most common site of foreign body impaction was the stomach (34%), colon (26%), and small bowel (23%). Majorities of foreign bodies (72%) were passed through the gastrointestinal tract without complication, 18 % required extraction by the upper endoscope, and 10% were removed surgically. We conclude that increasing awareness among parents to check the quality and safety protocols of electronic toys that contain batteries and magnets.","PeriodicalId":6946,"journal":{"name":"Acta medica Iranica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43425625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}