Iranian Journal of Medical Sciences
Volume:40 Issue: 3, May 2015

Hemophilia A is a worldwide disorder of coagulation system. It is a male disorder, yet females with hemophilia are rarely seen in communities with high rate of consanguineous marriages. The abnormalities in factor VIII gene transfer as an X-linked pattern in the family, affects as many as one-third of patients who had no family history of abnormality and thus the occurrence of a sporadic mutation could be documented. Hemorrhagic symptoms usually correlate with the plasma level of factor VIII and comprise a wide range of hemorrhagic pictures, including from fatal spontaneous bleeding in the brain to ecchymosis of the skin. The coagulation study needs to differentiate between the two types of hemophilia A and B as well as the categorization of the disease severity. In the developing countries, due to limitations in diagnostic hemostasis facilities and a scant number of experts in the field, it is estimated that noticeable numbers of undiagnosed patients with hemophilia A exist. Occasionally, we encounter undiagnosed cases by general physicians while having hemorrhagic symptoms. The purpose of this review is to recap clinical and diagnostic parameters, pitfalls, and interpretation of coagulation assay in hemophilia A.A literature review was done in PubMed and Scopus medical search engines using the keywords “Hemophilia” and “Haemophilia”. A time limitation for the publication beyond 1995 and publication in the English language were considered. A total of 94 original articles and chapters of books was selected for the current review. Additionally, a comprehensive and up-to-date information on the clinical and laboratory features for the diagnosis of hemophilia is also presented.

Sexual dysfunction (SD) is one of the important problems in diabetic patients.The present study aimed to determine the prevalence of sexual problems in Iranian women with type 2 diabetes mellitus. A cross-sectional study was conducted among type 2 diabetic women who visited two outpatient endocrine clinics, namely Imam Hospital and Tuba clinic (Sari, Iran) in 2012. Patients were asked to complete two validated questionnaires: Female Sexual Function Index (FSFI) and The Hospital Anxiety and Depression Scale (HADS) as well as a demographic questionnaire. Analysis was performed using descriptive and analytical tests. P<0.05 was considered to be significant. One hundred and fifty women with type 2 diabetes were investigated. Most of the cases aged 40-44 years old. The mean of the total score of the FSFI questionnaire was 22. The prevalence of sexual dysfunction was 78.7% (CI: 71.4-84.4); among these, 58% (CI: 50.0-65.6) reported problems in lubrication, 50% (CI: 42.1-57.9) complained of decreased sexual desire, 50% (CI: 42.1-57.9) had problems with arousal, 47.3% (CI: 39.5-55.3) had dyspareunia, 32.7% (CI: 25.7-40.5) complained of orgasmic dysfunction and 42.7% (CI: 35.0-50.7) reported problems in sexual satisfaction. With regard to the results of the HADS questionnaire, 58.7% (CI: 50.7-66.2) of the patients had depression and 96.7% (CI: 92.4-98.6) had anxiety. This study showed the high prevalence of sexual dysfunction in diabetic women, especially among those complaining of depression. Health care professionals dealing with diabetic patients should be aware of possible presence of sexual dysfunction in female patients.

Gastric cancer (GC) is the most common gastrointestinal cancer in Iran. Helicobacter pylori (H. pylori) accounts as one of the main risk factors for gastric non-cardia cancer (GNCC). It is suggested that high serum selenium level may have a protective role in GNCC. In this cross-sectional study, we determined the serum Se level and the status of H. pylori infection in two populations with GC and functional dyspepsia (FD). The enrolled patients were 85 (27 women, 58 men) with recent pathologically proven GNCC (adenocarcinoma) and 85 (34 women, 51 men) FD patients. Serum Se was measured by atomic absorption spectrophotometry. H. pylori IgG antibody was detected by quantitative enzyme immunoassay. The mean age in the GNCC and FD patients were 62.85±14.6 and 58.9±14.7 years, respectively (P=0.08). The serum selenium levels were 111.6±27.7 and 129.9±32.1 μg/L (mean±SD) in GNCC and FD patients, respectively (P<0.001). The frequency of H. pylori infection was 49.4% (n=42) and 68.2% (n=58) in GNCC and FD patients (P=0.013). The crude and adjusted odds ratio (OR) between GNCC and the linear effect of serum selenium level were 0.98 and 0.982, respectively (P=0.002). This means that each unit increase in serum selenium level decreases the odds of cancer by 2%. Serum selenium level was significantly lower in GNCC cases. It suggests that lower serum selenium might have some association with the risk of GNCC. H. pylori infection does not play a significant impact on this association.

Pain is one of the side effects of episiotomy. The virtual reality (VR) is a non-pharmacological method for pain relief. The purpose of this study was to determine the effect of using video glasses on pain reduction in primiparity women during episiotomy repair. This clinical trial was conducted on 30 primiparous parturient women having labor at Omolbanin Hospital (Mashhad, Iran) during May-July 2012. Samples during episiotomy repair were randomly divided into two equal groups. The intervention group received the usual treatment with VR (video glasses and local infiltration 5 ml solution of lidocaine 2%) and the control group only received local infiltration (5 ml solution of lidocaine 2%). Pain was measured using the Numeric Pain Rating Scale (0-100 scale) before, during and after the episiotomy repair. Data were analyzed using Fisher’s exact test, Chi-square, Mann-Whitney and repeated measures ANOVA tests by SPSS 11.5 software. There were statistically significant differences between the pain score during episiotomy repair in both groups (P=0.038). Virtual reality is an effective complementary non-pharmacological method to reduce pain during episiotomy repair.

Cytokines, chemokines, and chemokine receptors regulate the proliferation and survival of tumor cells, angiogenesis, and metastasis to other organs. This network of ligands and receptors has been used in molecular targeting of cancer. We compared the mRNA expression of CXCR3, CXCL-10, CXCR4, CXCL-12, IL-4, and IL-10 in tissues of benign and malignant ovarian tumors by qRT-PCR method and evaluated serum IL-10 and CA-125 content of these patients by ELISA during one year. Our result showed a trend toward a higher expression of CXCR4 in malignant ovarian tissues compared with the benign ovarian cysts (P>0.05). However, SDF-1, IP-10, IL-4, CXCR3, and IL-10 had a lower trend in mRNA expression in malignant ovarian tissues compared to the benign cyst tissues. Except for IL-4 (P=0.01) and SDF-1 (P=0.02), the data for other factors were not statistically significant. A trend toward higher concentration of IL-10 was observed in the serum of ovarian cancer patients compared to those with benign cysts; however, the difference was not significant. CA-125 concentration in the serum of ovarian cancer patients was higher than that of benign cyst patients (P=0.05). According to results obtained, we hypothesize that the lower expression of SDF-1 in malignant tissues may have an important role in ovarian tumor growth. However, this hypothesis requires more investigation. Higher levels of CA125 and IL-10 in the serum of patients might indicate that the combination of these biomarkers could be used for distinguishing patients with ovarian cancer from those with benign cysts.

There currently is a lack of knowledge about the long-term survival of patients with beta thalassemia (BT), particularly in regions with low incidence of the disease. The aim of the present study was to determine the survival rate of the patients with BT major and the factors associated with the survival time. This retrospective cohort study was performed in Hamadan province, located in the west of Iran. The study included patients that referred to the provincial hospitals during 16 year period from 1997 to 2013. The follow up of each subject was calculated from the date of birth to the date of death. Demographic and clinical data were extracted from patients’ medical records using a checklist. Statistical analysis included the Kaplan-Meier method to analyze survivals, log-rank to compare curves between groups, and Cox regression for multivariate prognostic analysis. A total of 133 patients with BT major were enrolled, 54.9% of whom were male and 66.2% were urban. The 10-, 20- and 30-year survival rate for all patients were 98.3%, 88.4% and 80.5%, respectively.Based on hazard ratio (HR), we found that accompanied diseases (P=0.01), blood type (P=0.03) and residency status (P=0.01) were significant predictors for the survival time of patients. The survival rate of BT patients has improved. Future researches such as prospective designs are required for the estimation of survival rate and to find other prognostic factors, which have reliable sources of data.

Chronic administration of morphine cause physical dependence but the exact mechanism of this phenomenon remains unclear. The aim of this study is the assessment of systemic and intracerebroventricular (icv) administration of ramelteon (a melatonin receptor agonist) on morphine physical dependence. 88 adult male rats were divided into 2 major groups, namely “systematic” and “central” administration of ramelteon. In the first category, systemic administration of ramelteon at various dosages (10, 20, and 40 mg/kg) was assessed on dependent animals and withdrawal signs were compared with positive (received morphine and saline as systemic administration), negative control (saline) and group under treatment by ramelteon (40 mg/kg) groups. In the second category, central administration of ramelteon at various dosages (25, 50, or 100 μg,) was assessed on dependent animals and withdrawal signs were compared with the positive control (received morphine and saline as icv) and negative control (saline) groups, and the group under treatment by ramelteon (50 μg/5 μl/rat). On the test day, all animals received naloxone (3 mg/kg) and were observed for withdrawal signs. Total withdrawal score (TWS) was also determined. Finally, to evaluate the stress level of dependent rats, blood cortisols were measured. Central administration of ramelteon in all doses and systemic administration in high doses attenuate withdrawal syndrome in comparison with the dependent positive control group (P<0.05). Both central and systemic administrations of ramelteon can attenuate the blood cortisol level in comparison with the dependent positive control group (P<0.05). In conclusion, we found that central administration of ramelteon attenuated morphine withdrawal symptoms and cortisol level as a stress marker.

Glucose uptake by muscles and fat cells is carried out by the GLUT4 system. Isoforms of the SNAP23, syntaxin-4 and VAMP-2 play an important role in regulating GLUT-4 trafficking and fusion in adipocytes. The changes of SNARE proteins levels and thus impaired GLUT-4 displacement can be one of the etiological causes of type 2 diabetes.Due to changes in the expression of these proteins in diabetes, the aim of this study was to investigate the effect of the natural compound resveratrol with anti-diabetic properties on impaired expression of SNARE proteins in type 2 diabetes. Forty male Wistar rats were used in this study. Type 2 diabetes was induced by administering a single dose of streptozotocin and nicotinamide. The expression of SNAP-23, syntaxin-4 and VAMP-2 proteins were assessed using real-time qRT-PCR. Also, some biochemical parameters were examined, including fasting blood glucose, insulin levels and insulin resistance. The results of this study showed that, resveratrol supplementation increased blood insulin level, reduced the fasting blood glucose, and improved the insulin resistance. In addition, resveratrol supplementation increased the expression of SNAP-23, syntaxin-4 and VAMP-2 proteins that involved in GLUT-4 transport in adipose tissue of diabetic rats. Final results showed that SNARE proteins expression is significantly reduced in diabetic rats and treatment with resveratrol supplementation is associated with the increased expression of these proteins.

Some respiratory diseases may induce alveolar hypoxia thereby hypoxic pulmonary vasoconstriction (HPV). However, the mechanisms of this physiologic phenomenon are not fully understood. This study was the first to investigate the role of anion exchanger in sustained HPV. Experiments were performed in the isolated perfused rabbit lung. After preparation, the lungs were divided into six groups: two DIDS (4,4-diisothiocyanostilbene 2,2-disulfonic acid, anion exchanger inhibitor)-treated [200 µM (n=5) or 400 µM (n=3)] hypoxic groups, two HCO3- free hypoxic groups, one control hypoxic group (n=7) and one control normoxic group (n=4). DIDS were added to the perfusate at 10 minutes before starting the experiments. In the HCO3- free groups, HEPES (4-(2-Hydroxyethyl)piperazine-1-ethanesulfonic acid) were added to the perfusate instead of bicarbonate. Furthermore, in the HEPES1 (n=4) and HEPES2 (n=4) groups, the lungs were ventilated with hypoxic gas with or without CO2, respectively. Ventilation of the lungs with hypoxic gas resulted in biphasic HPV, the acute (0-20 minutes) and sustained (20-60 minutes) phases. No alteration in both phases of HPV was detected by DIDS (200 µM). However, DIDS (400 µM), extended the ascending part of acute HPV until min 24. Both phases of HPV were decreased in the HEPES1 group. However, in the HEPES 2 group, HPV tended to increase during the rising part of the acute phase of HPV. Since DIDS (400 µM) extended acute phase of HPV, and HCO3- free perfusate buffer enhanced rising phase of it, therefore it can be suggested that anion exchanger may modulate HPV especially during the acute phase. The abstract of this article was presented as a poster in the congress of European Respiratory Society (ERS) on Monday, 08 September 2014, Munich, Germany and was published in the ERJ September 1, 2014 vol. 44 no. Suppl 58 P2343.

Neonates with respiratory distress syndrome (RDS), who are treated according to INSURE protocol; require arterial blood gas (ABG) analysis to decide on appropriate management. We conducted this study to investigate the validity of pulse oximetry instead of frequent ABG analysis in the evaluation of these patients. From a total of 193 blood samples obtained from 30 neonates <1500 grams with RDS, 7.2% were found to have one or more of the followings: acidosis, hypercapnia, or hypoxemia. We found that pulse oximetry in the detection of hyperoxemia had a good validity to appropriately manage patients without blood gas analysis. However, the validity of pulse oximetry was not good enough to detect acidosis, hypercapnia, and hypoxemia.

Herpes simplex virus types 1 (HSV-1) and 2 (HSV-2) are members of the Herpesviridae family. About 40% to 80% of the world populations are infected with HSV and its prevalence is high in Iran. The high prevalence of this virus in the community and the ability of the virus in causing fatal diseases among immunocompromised patients, have encouraged studies to be performed on HSV and suitable cell lines which supports the propagation of HSV. The aim of this study was to evaluate the suitability of McCoy cell line in the isolation and propagation of HSV. An isolated wild-type HSV-1 was obtained from the labial vesicles of a 29-year-old patient who was referred to Ghaem Hospital (Mashhad, Iran). The virus was inoculated in McCoy cell monolayer cells and its titer was calculated by 50% tissue culture infectious dose (TCID50) method. Cytopathic effects (CPE) of HSV on McCoy cells appeared about 20 hours after the infection of cells. Titer of the virus was 10-5.25 TCID50/ml. Our data showed that the McCoy cell line supported the propagation of HSV in high titer. This was the first study that used McCoy cell line for the isolation and propagation of HSV-1. McCoy cell line could be used, as a proper cell line of HSV, for various studies in the future.

Otitis media with effusion (OME) is one of the most common causes of hearing loss (HL) in children. It has been reported that several factors such as eustachian tube dysfunction, insufficiencies in the aeration of the mastoid cells, allergies, immunity, and infections play an important role in the etiology of the disease. Little is known about the role of Helicobacter pylori (H. pylori) in extragastric diseases. Because of the near location of the nose, sinuses, tonsils, and adenoids to the eustachian tube and middle ear, we believe it is possible to have H. pylori in the middle ear. The present study was designed to investigate the presence of H. pylori by polymerase chain reaction (PCR) in the middle ear effusion of patients with OME. The study was performed on 21 patients, 19 patients were affected bilaterally, and 2 patients were affected unilaterally, from which 40 specimens were collected. OME was diagnosed through findings by otoscopic examination and tympanogram. The middle ear fluid samples were collected under sterile conditions. A total of 40 samples was stored at -80°C until analyzed by PCR assay. From 40 specimens, 2 specimens were serosal and 38 specimens were mucoid. PCR results of the study in assays for Helicobacter pylori were not positive in all collected specimens. Overall, probably there was no H. pylori organism in free-floating form and thus could not be detected by PCR.

Basal cell carcinoma (BCC) is the most common cutaneous malignancy among Caucasians. Rare examples of aggressive and neglected BCC have been reported. Here we report a unique case of a neglected BCC with significant jaw involvement.A 50-year-old female, referred by an otorhinologist, presented with a large ulcer on her chin, which was extended to her mandibular vestibule. The ulcer was 9×5.5 cm in size, and tissue destruction, necrosis was observed in the central portion, and the mandibular bone was exposed. On intraoral examination, tooth mobility and severe bone loss were evident. Due to the primary cutaneous origin of the lesion, BCC was considered as preliminary diagnosis. Biopsy was performed and diagnosis of BCC was confirmed. The diseased mandibular bone was resected and reconstructed with a surgical plate. The soft tissue defect was reconstructed with deltopectoral flap. The patient refused secondary stage plastic surgery.Although BCC is not a lethal malignancy, if left untreated and neglected, it can result in severe destruction, disfigurement, and even mortality.

Langerhans cell histiocytosis (LCH) is a rare neoplasm defined as the proliferation of bone marrow langerhans cells, which is a kind of dendritic cells. The major pathological features of LCH are expression of CD1a and S100 as well as Birbeck granules. Its presentation can differ from a mild bone lesion to a multi-systemic evolved malignant neoplasm; however, the latter outcome is almost rare. Thus, LCH is mostly known as a benign neoplasm. In this study, we present a case of LCH followed by Hodgkin lymphoma (HL). Accompaniment of this disease with malignant lymphoma is rare and considered as case report. Several cases in which malignant lymphoma occurred prior to LCH are reported; however, few cases can be found with LCH followed by malignant lymphomas.

Metastatic tumors account for 1% of all oral malignancies. Metastasis to jaw bones is common, particularly in the mandible, rare in the oral soft tissues, and account for only 0.1% of oral malignancies. The majority of metastatic cases (70%) reported in the literature have primary tumors located in the lung, breast, kidney, and colon. Metastasis is a biological complex process that involves detachment from the surrounding cells, regulation of cell motility, invasion, survival, proliferation, and evasion of the immune system. Clinical presentation of metastatic tumors is variable, which may create diagnostic dilemma or may lead to erroneous diagnosis. Metastatic tumors clinically mimic as dental infections. Metastasis to the oral soft tissue from lung cancer, especially gingiva is a rare condition. Metastasis to the gingiva can affect the oral function, speech, and nutrition. Most of the cases in the literature reported that lesion presented in oral soft tissues before the diagnosis of primary tumors. Here we report a case of 62-year-old male patient with metastasis from lung to the gingiva, where the metastasis was detected before primary tumor.