مجله دانشکده پزشکی دانشگاه علوم پزشکی تهران
سال هفتاد و هشتم شماره 1 (پیاپی 229، فروردین 1399)

Primary immunodeficiency diseases (PIDs) is a diverse group of diseases, characterized by a defect in the immune system. These patients are susceptible to recurrent respiratory infections, gastrointestinal problems, autoimmune diseases, and malignancies. In most cases, patients with primary immunodeficiency disorders have genetic defects and are monogenic disorders that follow a simple Mendelian inheritance, however, some PIDs recognize a more complex polygenic origin. Overall, almost 70 to 90 percent of patients with primary immunodeficiency are undiagnosed. Given that these patients are exposing to respiratory infectious agents and some live-attenuated vaccines, thus they have a high risk to some clinical complications. The administration of oral polio vaccine in patients with PIDs especially can increase the possibility of acute flaccid paralysis. These patients will excrete the poliovirus for a long time through their feces, even though they are not paralyzed. Long-term virus proliferation in the vaccinated individuals causes a mutation in the poliovirus and creates a vaccine-derived polioviruses (VDPVs), which is a major challenge to the final stages of the worldwide eradication of polio. To increase the diagnosis and identification of patients with immunodeficiency and carrying out a national plan for screening patients with immunodeficiency from the fecal excretion of the poliovirus, a possible polio epidemic can be prevented during post-eradication. Development of laboratory facilities in provincial and city centers, improvement of communications among physicians regarding medical consultation and establishment of referring systems for patients by national network lead to improve status of diagnosis and treatment of patients with primary immunodefiicencies. In this context, launching and activating the national network of immunodeficiency diseases is essential for improving the health of children and reducing the cost of the health system of the country. A national network of immunodeficiency can lead to increase awareness of physicians regarding primary immunodeficiency disorders, improve collaboration among physicians about genetic consultation and establish a practical referral system in Iran that results in increased diagnosis and improve treatment of patients with primary immunodeficiency disorders.

Multiple Sclerosis (MS) is a chronic neurological and inflammatory disorder that affects the nervous system. The etiology of MS is unknown, but genetic and environmental factors are involved in its pathogenesis. There is increasing evidence suggesting the role of epigenetic mechanisms in the pathogenesis of multiple sclerosis. Lack of vitamin D, smoking, and Epstein barr virus can cause epigenetic changes. Several studies have found that Dysregulation in DNA methylation is related to abnormal immune responses and post-translation modifications of myelin proteins in the brain specimens of MS patients. Molecular mechanisms through environmental signals lead to gene expression changes include DNA methylation, post modification of nucleosomal histones and non-coding RNAs. Also, abnormal microRNA profiles have been reported in the brain tissues and peripheral immune blood cells of MS patients. Increased histone acetylation and citrullination of myelin basic protein are two epigenetic mechanisms that may intensify the disease course, in the progressive type. The activation of T cells by histone deacetylase (HDAC) may contribute to the pathogenesis of MS disease and increase the intensity of disease. Increased of HDAC transcripts can also be observed during immune cell activation. Th1 differentiation is produced by HDACs, and the inhibition of these enzymes reduces the production of IFN-γ. The expression of 364 miRNA in peripheral blood mononuclear cell (PBMC) has been reported in the patients with remitting and relapsing and increased miR-18b and miR-599 regulation in the relapsing course. Expression of miRNAs in astrocytes, microglia, and CD8+ T cells also increased. The role of epigenome in this disease can be deduced from epidemiological studies of the geographical location influence, a month of birth, nutritional status (food and vitamin D absorption), and smoking. Despite of the ever-increasing advances, the epigenetic mechanisms of MS are still unknown. Numerous studies are needed to treat and control the disease and discover new and effective drugs due to the complexity of multiple sclerosis and the importance of epigenetic changes in multiple signaling pathways and the molecular mechanisms of different types of MS.

Alzheimer's disease (AD) is a chronic neurodegenerative disease characterized by a progressive decline of cognitive performance, which has a harmful impact on social activities. AD is the main cause of dementia and loss of functional independence in the elderly. AD is a worldwide concern because of its adverse consequences and expanding prevalence and incidence. Vitamin D is the most common nutritional deficiency worldwide among children and adults. In addition to its classical function of bone metabolism regulation, vitamin D exhibits multiple biological targets mediated by the vitamin D receptor (VDR). Vitamin D is a risk factor for a wide range of diseases and, as a neurosteroid, has an essential role in nervous system development and protection. Vitamin D regulates mechanisms involved in the pathogenesis of AD, including phagocytosis of amyloid-beta plaques, anti-inflammatory action, antioxidant action, regulation of intraneuronal calcium, ischemic zone size reduction, regulation of choline acetyltransferase enzyme and neurotrophic agents. This study aimed to evaluate the association between AD and vitamin D deficiency.

In this case-control study, 44 Alzheimer’s disease patients (diagnosed based on DSM-IV-TR criteria) compared with 40 patients that had no disease related to vitamin D. This study was performed in the neurology clinics of Roozbeh and Imam Khomeini Hospitals in Tehran, from April to March 2015. The demographic data were collected. After obtaining informed consent, venous blood was taken by clinical staff to measure the level of 25-hydroxyvitamin D3. Statistical analysis was performed on data.

The Mean age was 71.55 years old (69.88 for females and 73.74 for males) in the case group. Mean vitamin D levels were 26.31 ng/ml and 36.41 ng/ml in case and control groups, respectively. Vitamin D level was deficient (< 30 ng/ml) in 75% of patients, of which 23% were severely deficient (< 10 ng/ml). Statistical analysis showed no significant relationship between Alzheimer's disease and vitamin D levels (P=0.057), but when participants categorized into three groups based on serum vitamin D levels (deficient, insufficient, sufficient), we found a significant relationship between them (P=0.019).

Our results confirm the association between vitamin D deficiency and Alzheimer's disease. Vitamin D supplementation should be considered in individuals at risk of Alzheimer's disease to reach sufficient vitamin D level.

Spasticity is one of the most important symptoms of stroke, which leads to movement constraints and disability. The presence of spasticity in the ankle and toe plantar flexor muscles disturbs the balance and gait of patients with stroke. Dry needling has been introduced as a new method for the treatment of spasticity. The aim of this study was to investigate the immediate effects of the ankle and toe plantar flexors dry needling on spasticity and balance in patients with stroke.

This study was a clinical pretest-posttest study. Twenty patients with stroke (12 males and 8 females), the mean age of 56.5±13 years were included. The assessments were performed before dry needling, immediately after dry needling and 15 minutes after that. Dry needling was used to treat gastrocnemius (ankle plantar flexor) muscles, flexor digitorum longus, and flexor digitorum brevis of the affected lower limb of the patients, for one session. Each muscle was needled for one minute with fast in-fast out technique. The outcome measures of the study were modified modified Ashworth scale (MMAS) for the assessment of the severity of muscle spasticity, timed up and go test and one leg stance test, for balance evaluation. The study was conducted in neurological physical therapy, Clinic of Rehabilitation School, Tehran University of Medical Sciences in Iran, from April 2017 to April 2018.

The results showed a significant decrease in the ankle and toe plantar flexor muscles spasticity both immediately after dry needling and at 15 minutes follow-up (P=0.001). The duration of timed up and go test (P=0.001) and one leg stance test (P=0.001) improved significantly after dry needling and this improvement persisted for 15 minutes after dry needling. The effect size for timed up and go test and one leg stance test was small (Cohen'sd=0.33 and 0.32 respectively).

This study suggests that dry needling is effective in improving spasticity of ankle and toe plantar flexor muscles and the balance of patients with stroke. Further research with larger sample size and control group is necessary.

A group of adenosine triphosphate binding cassette transporter (ABCs) including ABCA1, ABCG1, ABCG4, ABCG5 and, ABCG8 induce cholesterol efflux from the cell and thereby are target genes in prevention and treatment of atherosclerosis. ABCA1, ABCG5 and, ABCG8 genes are activated by liver X receptor (LXR) and liver receptor homolog-1 (LRH-1) that play essential roles in metabolic processes related to cholesterol metabolism. Oxysterols that are derivatives of cholesterol, or by-products of cholesterol biosynthesis that contain additional oxygen functions as hydroxyl, carbonyl, or epoxide groups, are LXR ligands; thus, LXR and LRH-1 are cell cholesterol sensors. LXRs are ligand-activated transcription factors that regulate the metabolism of several genes related to lipids, cholesterol, and bile acids and their activity is effective in the prevention of atherosclerosis. The aim of this study was to investigate the effects of 12 weeks high-intensity interval training (HIT) and low-intensity continuous training (LIT) after high-fat diet on LXRα gene expression in male Wistar rats.

This experimental study was done in two phases of obesity induction and training exercises. The rats after 13 weeks of high-fat diet (40% lipid) assigned in 3 groups of control (with high-fat diet) (N=5), HIT training (with high-fat diet) (N=5) and LIT training (with high fat diet) (N=5). For statistical analysis, the one-way ANOVA and the least significant difference (LSD) post-hoc tests were used for comparison of groups. The duration of exercises was 12 weeks (5 sessions per week). The research was done in the Sport Sciences Research Institute of Shahid Mirghani, Gorgan City, Iran, from December 2018 to July 2019.

Results showed significant differences of LXRα gene expression between groups (P≤0.05), as highest levels of LXRα gene expression were in HIT group and its lowest levels were in control group.

In summary, results showed that 12 weeks high-intensity interval training (HIT) and low-intensity continuous training after 13 weeks high-fat diet increased LXRα gene expression that may be a predictive mechanism for atherosclerosis especially in obese persons. Also, HIT training was more effective in elevation of LXRα gene expression.

Helicobacter pylori (H. pylori) is a highly prevalent, serious and chronic infection. It been associated causally with a diverse spectrum of gastrointestinal disorders including chronic gastritis, peptic ulcer disease, gastric adenocarcinoma. We conducted a study to Evaluation of the role of breastfeeding and breast milk on the colonization of H. pylori in the gastrointestinal tract of 2-24 month old.

This cross-sectional study was performed on 92 children referred to Ali Asghar Hospital of Iran University of Medical Sciences for two years (from July 2015 to June 2017). At first, a questionnaire was recorded by the neonatal specialist including demographic and clinical characteristics of the infants. Stool samples were taken from infants at 2, 6, 12, and 24 months of age. We used the H. pylori stool antigen test to detection infection in the selected group of children. H. pylori status was evaluated by an enzyme-linked immunosorbent assay (ELISA).

In the study of breastfeeding at 12 months of age, 51.1% were fed only dry milk and 28.3% were breastfed only. At 24 months, 22 infants (24%) were breastfed with supplemental feeding and 54 children (58.7%) were  formula-fed only and 8 children (8.7%) were breastfed only. In our study, the prevalence of H. pylori in infants of Tehran, at 2, 6, 12, and 24 months, were 0%, 6.5%, 15.21%, and 34.4%, respectively. Of the 92 children studied, during the first month, 25 children (27.2%) only formula-fed and 49 children (53.3%) were breastfed only and (19.6%) 18 infants were breastfed with dry milk. The prevalence of H. pylori infection was 28.3%. The prevalence of H. pylori infection was 20% in the breastfeeding group and 44% in the infant dry milk feeding group. The prevalence of H. pylori antigen was greater than 12 IU/ml in infants 2, 6, 12, and 24 months of age, including 19.92 (20.6%), 19.92 (20.6%), 24.92 (26.1%) and 21.92 (22.8%), respectively.

According to the findings of the article, breastfed children compared to formula-fed children were less infected by Helicobacter pylori.

Melatonin is one of the drugs which are used in the treatment of sleep problems, including insomnia and sleep deprivation. The aim of the present study was to evaluate the melatonin effect on sleep quality in patients with cancer.

This quasi-experimental study was performed on cancer patients with trouble sleeping who were treated with melatonin (3 mg per day) for a month. Sleep quality according to the Pittsburgh sleep quality index (PSQI) questionnaire was evaluated before and after taking melatonin. This study was conducted in the Oncology Clinic of Imam Reza Hospital, Kermanshah City in Iran from August 2016 to February 2018.

There was a significant difference between the sleep quality of patients with cancer before and after taking melatonin (P<0.05). In other words, before taking melatonin, sleep quality of none of the patients was not optimal but after taking melatonin, the sleep quality of 52% of patients was satisfactory. Also, there was a significant difference between the components of subjective sleep quality (P<0.001), sleep latency (P<0.001), sleep duration (P<0.001), sleep efficiency rate (P<0.001), sleep disturbances (P=0.001), and daytime dysfunction (P<0.001) of patients with cancer before and after taking melatonin. There was no significant difference between the components of subjective sleep quality, sleep latency, sleep duration, sleep efficiency rate, sleep disturbances, and daytime dysfunction of cancer patients with age, sex, kind of cancer, and kind of metastasis before and after taking melatonin (P˃0.05).

According to the mentioned findings, it seems that the administration of melatonin to enhance sleep quality in patients with cancer is effective.

Discharge with personal satisfaction means the patient's withdrawal from the permission that had previously been given to the care unit for services. Discharge with personal satisfaction is initiated with the untimely termination of treatment by the patient or parents and in some cases leads to hospitalization or even death of the patient. This study aimed to determining the main causes of discharge with personal satisfaction in hospitalized patients.

The present cross-sectional study examines at hospitalized patients of Amiralmomenin Hospital in Zabol, Iran, to examine the reasons discharge with personal satisfaction in relation to the patient, hospital staff and the housing status of the hospital during the period from April 2017 to March 2018. All clearance patients with personal satisfaction entered the study. Demographic data, insurance status, type of insurance (social security, health services, resettlement, relief, armed forces, maternity, maternity, other supplementary insurance), number of admission days, hospital admission (morning, evening, night), type of illness or cause of referral (multiple trauma, surgery, orthopedics, neurology, neurology), the reason for possible re-admittance within the next two weeks and the main reasons for clearance with personal consent was collected and recorded using a pre-designed checklist.

The most of the cases of which were due to neurological complaints (51%). 803 (80%) of patients referred back to the hospital due to self-correlated problems, 163 (16%) patients were hospital left with satisfaction due to the hospital-made staffing problem (P=0.001). The results of the study showed that the highest frequency was related to male (67%) and most of them were married (84%), while most of them had insurance (74%), especially army and municipality insurance (34%).

Based on the results of the present study, most cases of discharge were patient related. Adequate recovery feeling and the desire to continue treatment in private centers were the main causes.

Today, due to changes in human lifestyle and consumer demand incidence of foodborne diseases is on the rise. The aim of this study was to investigate the mortality rate of foodborne diseases and their related factors.

In this cross-sectional study, data on deaths registered according to the International Classification of Diseases (ICD-10th revision) were extracted from death registration and classification of causes system in the Ministry of Health and Medical Education of Iran from 2011 to 2018. Data on deaths from food and water borne diseases including Salmonella, Shigella, Escherichia coli O157:H7, Staphylococcus aureus, Clostridium botulinum, and other foodborne diseases were extracted from database of death registration and classification of causes system. The demographic variables of dead people considered in this study include age (under 5 years, 5-20 years, 20-40, 40-60s and over 60 old), gender, nationality, and the location where people died (urban, rural and unknown).

The majority of deaths cases occurred at the age of 60 years and in older age groups (P<0.001). The results show that across all the age groups mortality rate from foodborne diseases was higher among men than among women (P=0.110). Most of foodborne diseases were reported by people living in urban areas (P<0.0001). The results of this study showed that most of the deaths from these diseases occur in the warm seasons. In this study, the crude death rate was 10 cases per one million inhabitants.

The results of this study showed that there was a significant difference between the mortality rate due to different bacterial agents. This study suggests that demographic variables are important predictors of mortality from foodborne illness and should be further investigated.

Although cervical malignancy rate had grown up in recent years, primary cervical lymphoma is so rare. It must be high index of suspicious for primary cervical lymphoma diagnosis in patient with malignancy-like signs and symptoms for early detection. Primary cervical lymphoma has no standard treatment or follow-up protocol; so the management still is in doubt and based on previous case reports. In the other hand, the precise prognosis of patient is undetermined. In the present study, a case of primary cervical lymphoma is presented which was misdiagnosed at first. The patient accurate diagnosis was made at last due to multidisciplinary team working.

A 51-year-old woman, gravida 2, para 2, presented with complaint of abnormal vaginal bleeding and discharge, with no abnormal finding in cervical cytology and sonography, so uneventfully a diagnostic error had happened in the assessment of her. After several months and multiple different treatment, the patient referred to the Oncology Department of Obstetrics and Gynecology Center, Ghaem Hospital, Mashhad, Iran in May 2017. Re-assessment was performed by biopsy and imaging, and the final pathologic diagnosis of diffuse large B-cell non-Hodgkin's lymphomas was confirmed.

Primary cervical lymphoma is an uncommon malignancy; the diagnosis could be missed simply by low suspicious due to low accuracy of Pap smear and imaging in this situation. So an accurate evaluation and pelvic examination, high suspicious and close communication between clinician and pathologist are needed. By timely diagnosis of patient in early stage and appropriate approach, the prognosis could be excellent most of the time.