Archives of Iranian Medicine
Volume:14 Issue: 1, Jan 2011

Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A2 (HbA2) level. Genomic DNA extraction, amplification refractory mutation system (ARMS) polymerase chain reaction and direct DNA sequencing of δ- and β-globin genes were exploited for detection of the mutations in these two genes in an individual with low hematological indices and normal HbA2. ARMS-PCR technique revealed the β+ IVSI-5 (G to C) mutation and direct DNA sequencing of the δ-globin gene detected a previously reported delta codon 12 (AATàAAA) HbA2-NYU. This study reports HbA2-NYU in association with the β IVSI-5 (G to C) mutation in Iran. This report emphasizes that normal HbA2 expression in a β-goblin carrier is due to mutation in the δ-globin gene and may cause misdiagnosis of thalassemia.

Cirrhosis, the end stage of progressive hepatic fibrosis, is characterized by distortion of the hepatic architecture and the formation of regenerative nodules. Liver transplantation is one of the few available therapies for such patients. However, due to a severe shortage of organ donors, surgical complications, transplant rejection and the high cost of this procedure much interest has focused on research to find new treatment modalities for this disease. There is accumulating evidence for the contribution of bone marrow stem cells to participate in liver regeneration. Here we report on six patients with end stage liver disease who were subjected to intraportal administration of autologous bone marrow-derived CD133+ in comparison to mononuclear cells in short-term (6 months) and long-term (24 months) follow up. There were no adverse effects in any of the patients during the short- and long-term follow up period. Moreover, there were no significant alterations of liver function parameters, liver enzymes, serum albumin, creatinine, serum bilirubin and/or liver volume after transplantation of both types of autologous cells in these patients. Our study has shown both the safety and feasibility of this type of liver cell therapy and may be a bridge to liver transplantation.The trial was registered with NIH clinical trials (www.clinicaltrials.gov) as identifier: NCT00713934.

The present study was conducted to evaluate and compare a fast-ELISA (F-ELISA) method versus standard-ELISA (S-ELISA) to diagnose human fasciolosis. Serum samples were obtained from 35 individuals infected with fasciolosis, 27 infected with other parasitoses and 22 from healthy people. The samples were examined with S-ELISA (30-minute incubation periods) and F-ELISA (10-minute incubation periods) for total antibody response against fasciolosis. The optimum conditions for S-ELISA and F-ELISA were respectively as follows: antigen 10 and 5 µg/mL, sera 1:500 dilution for both, peroxidase-conjugated goat anti-human IgG diluted 1:7000 and 1:10000. Data were analyzed using SPSS version 11.0. Cut-off vale for S-ELISA and F-ELISA was determined as 0.56 and 0.42, respectively. The sensitivity, specificity; positive, and negative predictive values were detected as 97.2%, 100%, 94.6%, and 95.6% for both tests. Cut-off values, sensitivity, specificity, and other important parameters of the two evaluated tests determined that the F-ELISA method could be used with no detectable difference.

The lungs are affected in 70 – 90% of cases diagnosed with systemic sclerosis. Pulmonary involvement is associated with increased morbidity and mortality. Fifty-five cases of systemic sclerosis underwent plethysmography, diffusion lung capacity for carbon monoxide (DLCO) measurement, high resolution computed tomography scanning, and bronchoalveolar lavage (BAL) to evaluate their diagnostic roles in grading the severity of lung involvement and their relationships to each other. The indices of DLCO% (measured DLCO to predicted ratio) and DLCO value, total lung capacity (TLC) value and TLC% (measured TLC to predicted ratio), forced vital capacity (FVC) and FVC% (measured FVC to predicted FVC) were significantly lower in patients who presented with a severer degree of lung involvement on high resolution computed tomography scan. No meaningful correlation between bronchoalveolar lavage findings and the degree of involvement on high resolution computed tomography scan was noted. Although there is a correlation between imaging and lung capacities in physiologic studies. Bronchoalveolar lavage findings did not correlate with either imaging or physiologic tests. It seems that DLCO, TLC, and FVC are the most valuable measures with which to evaluate disease severity.

A country’s developmental progress and overall changes in socio-economic structure are reflected in the outcome of secular trend studies on physical growth of children. The aim of this study was to compare anthropometric and biochemical indices of adolescent boys and girls born during and after the Iran-Iraq war. Adolescents, aged 11 – 18 years, were selected from the TLGS cohort and divided into two groups. In the first group, adolescents born during the war and in the second group adolescents born after the war were included. Height, weight, serum lipids, FBS, systolic and diastolic blood pressure, and BMI were compared amongst adolescents of the same ages between the two groups. Mean weight and height increased at the ages of 12, 13, 14, and 17 years in boys of the post-war group. The mean weight of girls in the post-war group increased at the ages of 11, 13, and 14 years. Between 11 – 14 years, the means for total and LDL cholesterol, and between the ages of 15 – 18 years FBS, total cholesterol and LDL cholesterol decreased in boys of the post-war group. For girls between the ages of 11 – 14, FBS, total cholesterol, TG and LDL cholesterol, and between the ages of 15 – 18 years, FBS, total cholesterol and LDL cholesterol decreased in the post-war group. Systolic and diastolic blood pressure decreased at all ages in both groups. This study showed that some anthropometric indices such as height and weight increased in boys who were born after the war; but in girls, the mean weight in the age groups increased. Systolic and diastolic blood pressure, and some lipid profiles decreased in boys and girls of the post-war group.

Learning and memory processes can be affected by morphine administration. It has been previously demonstrated that the effects of morphine depend on the timing of drug administration. In the present study, the effects of microinjections of a NMDA receptor agonist and antagonist into the CA1 regions of the dorsal hippocampi (intra-CA1) on repeated pretreatment of morphine-induced prevention of morphine-induced amnesia have been investigated. Step-through inhibitory avoidance task of memory has been used to examine retrieval of memory formation, 24 h after training in male Wistar rats. The results indicate that post-training administration of morphine (7.5 mg/kg) impaired memory retrieval, but not in the animals, which received previous repeated morphine (7.5 and 10 mg/kg) injections followed by morphine withdrawal. Repeated co-administration of NMDA (7.5 and 10 ng/rat, intra-CA1) with an ineffective dose of morphine (5 mg/kg), once daily for three days reversed morphine-induced amnesia. Repeated bilateral intra-CA1 microinjections of NMDA, once daily for three days followed by a five-day washout had no effect on the expression of amnesia produced by post-training morphine. Three-day administration of the NMDA receptor antagonist, D-AP5 (0.5 – 2 µg/rat, intra-CA1) followed by a five-day washout had no effect on morphine-induced amnesia. On the other hand, intra-CA1 microinjections of the same doses of D-AP5 prior to injection of 7.5 mg/kg of morphine (per day×3 days) decreased the reversal of morphine-induced amnesia. These data imply that the dorsal hippocampal NMDA receptor mechanism(s) may modulate the effect-induced by repeated morphine administration on a challenge dose of morphine-induced amnesia.

Human rotavirus genotypes G1-G4, G9, P[4] and P[8] are major worldwide causes of acute gastroenteritis in children. Rotavirus genotype G1P[8] is predominant in many countries. In this study, the genotypic diversity of group A rotaviruses were detected in children <5 years of age who were treated for dehydration and diarrhea in Tehran, Iran from October 2004 to September 2008. A total of 700 stool specimens were collected from children and assessed for the presence of rotaviruses by the dsRNA-PAGE technique. G and P typing of the positive samples were performed by semi-nested multiplex RT-PCR. Rotaviruses were isolated in 19% of samples. A total of 14 rotavirus dsRNA different electrophoretypes were detected. The predominant genotype was G1 (76.3%), followed by G4 (11.5%), G8 (0.8%), P[4] (9.2%) and P[8] (66.4%), respectively. In mixed type samples, the majority were of genotype G1P[8] (53.4%), followed by G1P[4] (9.2%) and G4P[8] (4.6%). Mixed types consisted of 3.1% of the total sample followed by G1G2/-P (1.5%), G1G4P[4] (0.8%) and G1G4P[8] (0.8%). In this study, a high prevalence of the G1P[8] genotype was determined to be the cause of childhood gastroenteritis in Tehran, Iran. The sequence of G and P genotypes showed high levels of similarity to strains from other Asian countries. Our data will be useful for future vaccine formulation in Iran.

Chronic diseases are already major causes of morbidity and mortality in Iran, similar to what is seen in other countries. However, there doesn’t yet exist a comprehensive plan to cope with the epidemic of chronic diseases in Iran. Several lifestyle and low-cost pharmacological interventions have been proposed to reduce the burden of chronic diseases. Lifestyle interventions require a comprehensive infrastructure that can be quite costly in this country, but several components of extensive lifestyle interventions, including self-help materials and brief advice by health workers, can be integrated into the existing system. Pharmacological interventions may have substantial contribution to the capacity and preparation of Iran's healthcare system to confront the epidemic of chronic diseases. Further research needs to be performed to determine the feasibility and efficacy of each of these methods in order for policy makers to take the appropriate measures on adopting each of these strategies to prevent and control chronic diseases.

Pseudohypacusis or the intentional feigning of hearing loss is a challenging situation in the medicolegal evaluation of hearing levels. Few studies have been performed on predisposing factors that make compensation claims susceptible to malingering. The goal of this study was to investigate the relationship between educational level and frequency of pseudohypacusis in a group of medico-legal clients. Retrospectively, we studied the files of subjects (n=421) referred to the audiology clinic of a government hospital during a 12 month period. Educational levels of the individuals with and without pseudohypacusis were compared by the Chi-square test. The results show that individuals with pseudohypacusis have lower educational levels than cooperative clients. The relative frequency of individuals with pseudohypacusis among illiterates (43.5%) was clearly higher than individuals with higher educational levels (17.5%). The education level of a person filing a compensation claim may alert an examiner in detecting pseudohypacusis.

Here we report the result of three cases referred to our lab that had a combination of β-thalassemia and hemoglobin D (Hb D) traits. These individuals had no symptoms of profound anemia and hematological indices were similar to that of a β-thalassemia heterozygote. In all three cases, the Hb D level was elevated and no HbA was detected electrophoretically. The electrophoresis pattern suggested that all cases were homozygotes for Hb D. PCR followed by digestion with EcoRI and sequencing of the β-globin gene confirmed the presence of Cd 121 GAA>CAA in the heterozygous form with another b-globin mutation. In all cases, the mutations in the b-globin gene were detected by ARMS PCR technique and they were either IVSII-I or IVSI-5. Hematological studies of the family members showed that thalassemia which caused the mutations and Hb D were in the trans position.

Facial metastasis from colorectal cancer is very unusual. Herein, we report a 53-year-old man with history of colon cancer who was referred to our clinic because of an asymptomatic nodule on his chin for one year. Histopathologic examination of the nodule revealed metastatic adenocarcinoma, which was similar to that of the primary colon adenocarcinoma. The patient underwent radiotherapy for his skin metastasis, but he died 13 months later from widespread metastasis.

Recurrent pancreatitis secondary to systemic lupus erythematosus is a rare entity of unknown etiology. We report an adolescent with systemic lupus erythematosus and recurrent attacks of acute pancreatitis, which were poorly controlled with conventional therapy for approximately four years. Rituximab, a chimeric anti-CD20 monoclonal antibody therapy resulted in remission of symptoms for more than two years without major toxicity of treatment. Based on tolerability and high efficiency of rituximab therapy, we would suggest using B-cell depletion therapy as an alternative therapy for refractory pancreatitis secondary to systemic lupus erythematosus.

In the modern medical era, facial paralysis is linked with the name of Charles Bell. This disease, which is usually unilateral and is a peripheral facial palsy, causes facial muscle weakness in the affected side. Bell gave a complete description of the disease; but historically other physicians had described it several hundred years prior although it had been ignored for different reasons, such as the difficulty of the original text language. The first and the most famous of these physicians who described this disease was Mohammad Ibn Zakaryya Razi (Rhazes). In this article, we discuss his opinion.