Tehran University Medical Journal
Year:2020 | Volume:78 | Issue:8|Papers Count:11

Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the main reason for mortality in these patients. About 2000 mutations in this gene have been discovered, but nearly 150 mutations lead to serious symptoms. CFTR mutations are classified into six major classes based on phenotypic manifestations such as structural instability of channels, defective processing, malfunctioning chloride-ion transfers and decreased number of chloride channels in the cell membranes. These cause various symptoms such as respiratory infection, intestinal obstruction, pancreatic exocrine insufficiency and malabsorption. Significant improvements in diagnostic tools and methods such as newborn screening, chloride sweat test and gene sequencing have increased the incidence and the prevalence of CF. Enormous studies have also been done on CF recognition and treatment procedures, which have resulted in 30 years of growth in the life expectancy of the patients. Despite the recent achievements, due to the high complexity of this disease and the involvement of various organs, the available treatments are nonpermanent. In the past few years, new combinatorial drugs have been introduced which potentiate and correct CFTR and ameliorate the CF symptoms. Recently, novel genetic engineering methods like CRISPR/Cas9 and TALEN have been utilized to correct the mutated CFTR gene with high accuracy and eradicate the symptoms. Studying this disease at its distinct levels from subcellular to organs could help to find new treatments. Systematic research in finding common attributes between different states of the disease is very beneficial. Interdisciplinary research groups with various expertise in mathematics, biology and engineering could have a great impact on describing the full picture of the disease and development of new treatment strategies. The main part of this article provides a comprehensive overview of cystic fibrosis with emphasis on the key studies on genetics and their effects on cellular and physiological levels. In this work, conventional and new treatment methods have also been discussed.

Background: Long QT syndrome (LQTS) is a disorder in which electrical cardiac ventricular repolarization is impaired. It results in an increased risk of an irregular heartbeat which can result in palpitations, fainting, drowning, or sudden death. Long QT Syndrome may present as tonic-clonic seizure or a seizure-like disorder. By taking a superficial electrocardiogram (ECG) and proper diagnosis, Sudden death, one of the most important complications of Long QT syndrome can be easily prevented. Methods: This is a prospective case-control study that was conducted in the emergency department of Taleghani Children's Hospital of Gorgan University during 2017. Four hundred and eighty subjects in three groups (two cases and one control groups), were included in this study. These comprised as patients with afebrile convulsion (n: 160), patients with seizures associated with fever (n: 160), and the control group (patients who have been hospitalized for any reason other than seizure (n: 160)). Those with severe cerebral palsy, acute meningitis, prolonged loss of consciousness, severe disturbances of electrolytes and those who were taking drugs that affect the QT interval were excluded. Once admitted with a primary diagnosis of seizure, a 12 leads superficial ECG was performed. Results: In the group of patients with febrile convulsion, 123 children were Low probability Long QT syndrome, 33 cases were Intermediate and 4 were high probability Long QT syndrome. Probability of Long QT syndrome in children with afebrile seizures showed that 112 children were in Low probability Long QT syndrome, 42 children in Intermediate and 6 children in High probability Long QT syndrome group. Comparison of Probability of Long QT syndrome among the three evaluated groups showed that children with afebrile seizure (48 children) and subsequently children with febrile seizure (37 children) were more in Intermediate and High categories than others. Only 11 children in the control group were in the Intermediate and High groups. Chisquare test results showed a significant difference with P<0. 001. Conclusion: The results of this study show that in patients who present with seizure as the initial symptom, it is always mandatory to account Long QT syndrome into differential diagnosis. Doing a simple electrocardiogram makes it easy to distinguish two issues and prevent sudden death.

Background: Sore throat after endotracheal intubation during general anesthesia is a common complaint of patients especially in children. Strabismus surgery in one of the common procedures in child patients. The present study investigates the use of intratracheal ketamine administration in reducing sore throat after strabismus surgery. Methods: This study was performed on 60 patients undergoing elective strabismus surgery under general anesthesia from December 2019 to February 2020 in Farabi eye hospital, Tehran University of medical sciences, Tehran, Iran. These cases were referred to our center for strabismus operation from other centers of our country. Patients were randomly divided into two equal groups. After sufficient depth of anesthesia with sevoflurane and injection of fentanyl, endotracheal intubation was performed. In the control group, the endotracheal tube was inserted and 2 ml of ketamine solution at a concentration of 5 mg/ml were administered in endotracheal tube. The severity of sore throat, length of stay in recovery, incidence of delirium in recovery, satisfaction of recovery nurses and their parents and other complications were compared between the two groups. Results: Mean age, sex and weight were not significantly different between the two groups and were comparable. The mean duration of stay in recovery was higher in the case group than in the control group. The mean postoperative sore throat was significantly higher in the control group. Moreover, the mean incidence of delirium in the postoperative phase was higher in the case group. Besides, the rate of nurse satisfaction in the control group was higher than the case group. The incidence of bronchospasm, laryngospasm, and postoperative nausea and vomiting was not significantly different between the two groups. Conclusion: Intratracheal ketamine can reduce postoperative sore throat and the need for postoperative analgesic medications. Postoperative complications were not increased with this strategy, but the length of recovery stay increased in these patients.

Background: Intravenous (IV) injection of drugs is one of the most common methods of drug prescription in hospitals, which is a complex, potentially hazardous and erroneous method; accordingly, it requires control methods to reduce the potential risks. This study focused on determining the frequency and types of different medication errors while preparing and administering mostly used IV drugs in three intensive care units (ICU) and one general department in AL-Zahra hospital, Isfahan, Iran. Methods: This cross-sectional observational study was conducted for 6 months from September 2017 to March 2018. To determine the frequency of different medication errors, a quoting sampling method was applied to select and observe 400 cases of IV drug administrations. All nurses from any studied department were included in this study. Different stages of preparation and administration of the observed drugs were compared to an instructed checklist prepared by the clinical pharmacist. Results: Totally, 75 nurses were recruited from ICU-1 (N=29), ICU-2 (N=18), ICU-3 (N=19), and nephrology (N=9) departments. Type of department and occupation were the influential factors on nursing errors; also, a significant relationship was found between different work shifts and the occurrence of nurses’ errors, mostly seen in the evening work shift (P=0. 037). The mean of nurses’ errors in IV drug administration was not correlated with other factors including age, work history, and the number of patients managed by each one. Also, a positive correlation was found between the number of nurses in each work shift and the number of errors (P=0. 008). Conclusion: Medication errors in each stage of drug administration may lead to the hazardous clinical outcome or serious side effects such as thrombosis, infection or eventually lead to morbidity or mortality. Therefore, being aware of these errors and establishing observational policies can prevent unpleasant events related to drug administration.

Background: CNS infection can be focal or generalized. Meningitis, besides other etiologies, can occur after a viral infection or viral vaccine. Although meningitis can occur in at any age but it is more common in children less than five years old. Aseptic meningitis and meningoencephalitis are two of the most common complications of mumps (wild type or vaccine). As a result of their serious complication, we decided to obtain more information about clinical manifestations and laboratory findings after the injection of the Hoshino MMR vaccine in a group of children in an Iranian referral hospital. Methods: In this cross-sectional study, performed from March 2013 to February 2015 on 73 children with meningochemical symptoms of meningitis, children who have been diagnosed with aseptic meningitis followed by an MMR vaccine in an infectious ward or emergency department of the Children’ s Medical Center were enrolled in the study and their information was recorded from their files. A questionnaire was provided for children with diagnostic criteria of aseptic meningitis and their data were collected. Results: The gender ratio of patients was 46 males to 27 females. After collecting the symptoms of meningitis, the frequency of symptoms in these patients was as below: fever 66%, headache 49. 3%, nausea and vomiting 74%, parotid swelling 0%, seizure 21. 9% and meningeal symptoms 37%. Their laboratory data showed that 8. 2% of patients had normal WBC and 76. 7% had Abnormal results in their CSF (Cerebrospinal fluid) analysis. Mumps PCR (Polymerase chain reaction) was positive in 85% of samples. Conclusion: our study revealed that nausea and vomiting were the most frequent symptom after MMR vaccination in children and fever was in second grade in aseptic meningitis. There was no relation between clinical symptoms together, therefore we should take care of children after MMR vaccination to avoid complications when they become symptomatic.

Background: Opioid poisoning is the most common type of poisoning in intensive care units (ICUs). This group usually includes patients who have been drug abusers for a long time and now require hospitalization either because of acute overdose or due to side effects of routine opioid use. This study aimed to compare the severity and prognosis of patients using common mortality predictors Sequential Organ Failure Assessment (SOFA), Simplified Acute Physiology Score (SAPS II), Acute Physiology And Chronic Health Evaluation (APACHE II, APACHE IV) on different days of hospitalization. Methods: This cross-sectional study was performed on all patients with opioid poisoning admitted to the ICU, Imam Reza Hospital, Mashhad, Iran, from the beginning of April 2016 to March 2017 (Persian Calendar). For all poisoned patients enrolled in the study, the four mortality predicting tools were filled daily in the first three days of hospitalization and then every other day until discharge from the ICU or patient's death. Results: Overall, 57 patients were evaluated of whom 72% (41 patients) were male. The mean age was 49. 9± 19. 8 (median 53, range 18-94) years. The mean length of stay in the ICU was 13. 5± 17. 5 (median 7, range: 75-75) days. The mortality rate was 17. 5% (10 patients). The scores of SOFA, SAPS II, APACHE II, and APACHE IV were significantly higher in deceased patients than in discharged ones. The highest diagnostic accuracy (area under the curve) for all four predicting tools was observed in the second week of hospitalization. On the other hand, SAPS II (74%) on the first day, APACHEII (76%) on the second day, APACHE-II (82%) on the third day, SOFA (77%) on day 4-5, and SAPS II (82%) on day 6-7 had the highest diagnostic accuracy. Conclusion: In the present study scores of all four mortality predicting tools at admission were significantly associated with mortality. The accuracy of SAPS II, APACHE IV, and APACHE II are appropriate for estimating prognosis, especially after the second week of admission.

Background: Infertility is associated with high levels of stress which can pose a tremendous challenge on treatment. These psychological disorders such as depression and anxiety among the barrens are very important and have a crucial role as well. Ontime detection and evaluation of such disorders are effective in the successful treatment of infertility. Some variables can interfere and influence on psychological occasions, such as education, age and duration of infertility. This study aims to investigate depression and anxiety on couples with infertility. Methods: In this study, 60 infertile couples were enrolled. Thirty couples with male factors and 30 couples with female factors. The study is a cross-sectional study carried out in the Amiralmomenin Hospital of Semnan, Iran in 2016-2017. Symptoms of psychological disorders were documented via questioner. Date were entered into SPSS software, version 23 (SPSS Inc., Chicago, IL, USA), P<0. 05 was significant. Results: We figured out that 15% of women and 13% of men had clinical depression. Severe anxiety was found in 30% of women and 6% of men. We found that there is a significant correlation between depression and duration of infertility in women but not in men. Whereas there is not any significant relationship between both of the disorders and level of education in the patients. Conclusion: This study showed that depression level among half of infertile women and one-third of infertile men were more than healthy men and women. One of the reasons could be family problems and pressure to get pregnant. The psychological burden of infertility can affect the whole life of the infertile couple. Fear of an ambiguous future after infertility treatment failure, expensive treatment and its outcomes can be so annoying for many men and women. Most of these problems are hidden from the eyes of the treatment team. Take a deep look at what infertile women and men say showed that they need the support of their spouses, friends and family, the medical team and insurance services.

Background: Polycystic ovary syndrome is the most common disorder in the endocrine system. Hyperandrogenism, hyperinsulinemia, chronic ovulation, and infertility are important Complications of PCOS. Health-related quality-of-life (HRQoL) has a significant reduction in women with polycystic ovary syndrome (PCOS). This reduction can be due to many disorders including: menstrual and sleep disorders, hirsutism, marital issues, infertility, and emotional/psychosocial problems. The purpose of current study was to investigate the role of sleeping and other environmental factors affecting the quality of life in patients with polycystic ovary syndrome. Methods: This case/control study was conducted in 2017 in two groups: control and study (PCOS). The inclusion criteria were women aged 20-40 with a body mass index (BMI)<28. Exclusion criteria included no disease and no medication for all women. The participants were 180 women who were referred to the infertility center of Imam Khomeini Hospital in Tehran. Four questionnaires including Demographics (40 questions), sleep quality (PSQI) (19 items 0-3), quality of life (GHQ) (28 items) and psychometric (DASS-42) with their consent form were filled out. Student’ s t-test and Chi-square were used to compare the variables between two groups and the Pearson correlation coefficient to examine the relationship between lifestyle dimensions. Results: The mean weight and BMI (P=0. 002), hirsutism and irregular menstruation cycle in the study group were greater than the control (P<0. 001). In the study group the mean score of the sleep questionnaire in three dimensions: sleep problems (P=0. 024), drug use (P=0. 048), and the sufficiency of sleep (P=0. 049) were higher than control. Regression analysis showed that there is a significant relationship between quality of life and menstruation cycle (P=0. 046), as well as the three dimensions of negative affecting situations with family income (respectively, 0. 015, 0. 016 and P=0. 035). Conclusion: The environmental factors can easily affect the quality of life in PCO women. Sleep patterns were not favorable, and the effect of menstruation on mood and low family income caused negative emotions in women with PCOS.

Background: Because of geographic variation and regional types of allergens, it is recommended that allergists identify common allergens in their area of activity. In the present study, the prevalence of respiratory allergens in patients with asthma and allergic rhinitis was investigated. Methods: This study is descriptive and retrospective. The required data of this study were extracted from the records of 661 patients who were referred to the Asthma and Allergy Clinic of Ardabil University of Medical Sciences (Ardabil province, Northwest of Iran) from April 2016 to March 2017. After confirmation of allergic asthma or rhinitis by the asthma and allergy specialist, these patients were subjected to a prick test with allergen extracts. In the group of grasses the extract of nine grasses, in trees the extract of 11 Tree mix, in weeds the extract of Common weed mix, in animal allergens the three extracts of Standard cat, Dog epithelia, Cockroach mix, in weeds the Mite mix and in fungi, three extracts of Mold mix1, Alternaria and Aspergillus mix were used. All the data were analyzed using SPSS software, version 25. Results: According to results, of the 661 patients who were studied, 462 ones had positive and 273 had significant prick test results. The grasses group with 293 positive (44. 3%) and weeds group with 259 positive results (39. 2%) were more common than the other categories. Among the significant positive tests, these two categories with 161 and 142 significant positive tests were indicated as the most common allergens. Respiratory allergens were also more common in patients with a family history of allergies in weeds and trees categories, but there was no significant difference in sensitization pattern according to the history of tonsillectomy. Conclusion: Patients in Ardabil with allergic rhinitis and asthma were more sensitized to weeds and grass mixtures. It is recommended to provide preventive recommendations to allergic patients and the development of localized skin testing packages and additional studies should be conducted focusing on these two categories of allergens.

Background: Clopidogrel is an effective anti-platelet drug that is commonly prescribed for patients with atherosclerotic coronary and peripheral vascular diseases, especially after angioplasty and coronary artery bypass graft surgery. Even though this drug seems safe, there are case reports of important side effects with its use. Case Presentation: The patient was 67 years old male admitted with a diagnosis of inferior myocardial infarction who underwent angioplasty on RCA with a drug-eluting stent and was discharged with an uneventful course from hospital with medical treatment, including Clopidogrel. The patient came back to the clinic 30 days later with icter, nausea and loss of appetite. The lab data showed: Bilirubin (total= 5, direct=4), ALT=220, AST=100, Gama GT=830, Alk. phop=445. Virologic and imaging studies were normal. With a possible diagnosis of drug-induced hepatic injury all possible Prescribed drugs were held stepwise but bilirubin and the patient’ s symptoms did not relieve until Clopidogrel has been changed. After 10 days bilirubin and his symptom relieved. Conclusion: Clopidogrel is a common and partially safe drug, but it may cause hepatic injury. Considering Clopidogrel side effects and its interactions seem necessary for patient management.