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1.
Osong Public Health and Research Perspectives ; (6): 269-279, 2020.
Article | WPRIM | ID: wpr-835140

ABSTRACT

This review compared coronavirus disease 2019 (COVID-19) laboratory findings, comorbidities, and clinical outcomes in patients from the general population versus medical staff to aid diagnosis of COVID-19 in a more timely, efficient, and accurate way. Electronic databases were searched up to 23rdMarch, 2020. The initial search yielded 6,527 studies. Following screening, 24 studies were included [18 studies (11,564 cases) of confirmed COVID-19 cases in the general public, and 6 studies (394 cases) in medical staff] in this review. Significant differences were observed in white blood cell counts (p < 0.001), lymphocyte counts (p < 0.001), platelet counts (p = 0.04), procalcitonin levels (p < 0.001), lactate dehydrogenase levels (p < 0.001), and creatinine levels (p = 0.03) when comparing infected medical staff with the general public. The mortality rate was higher in the general population than in medical staff (8% versus 2%). This review showed that during the early stages of COVID-19, laboratory findings alone may not be significant predictors of infection and may just accompany increasing C-reactive protein levels, erythrocyte sedimentation rates, and lactate dehydrogenase levels. In the symptomatic stage, the lymphocyte and platelet counts tended to decrease. Elevated D-dimer fibrin degradation product was associated with poor prognosis.

2.
Osong Public Health and Research Perspectives ; (6): 74-80, 2020.
Article | WPRIM | ID: wpr-835110

ABSTRACT

Objectives@#Case fatality rates (CFR) and recovery rates are important readouts during epidemics andpandemics. In this article, an international analysis was performed on the ongoing coronavirus disease2019 (COVID-19) pandemic. @*Methods@#Data were retrieved from accurate databases according to the user’s guide of data sourcesfor patient registries, CFR and recovery rates were calculated for each country. A comparison of CFRbetween countries with total cases ≥ 1,000 was observed for 12th and 23rd March. @*Results@#Italy’s CFR was the highest of all countries studied for both time points (12th March, 6.22% versus23rd March, 9.26%). The data showed that even though Italy was the only European country reported on12rd March, Spain and France had the highest CFR of 6.16 and 4.21%, respectively, on 23rd March, whichwas strikingly higher than the overall CFR of 3.61%. @*Conclusion@#Obtaining detailed and accurate medical history from COVID-19 patients, and analyzingCFR alongside the recovery rate, may enable the identification of the highest risk areas so that efficientmedical care may be provided. This may lead to the development of point-of-care tools to helpclinicians in stratifying patients based on possible requirements in the level of care, to increase theprobabilities of survival from COVID-19 disease.

3.
Cell Journal [Yakhteh]. 2017; 19 (Supp. 1): 9-26
in English | IMEMR | ID: emr-189336

ABSTRACT

Epigenetic and genetic alterations are two mechanisms participating in leukemia, which can inactivate genes involved in leukemia pathogenesis or progression. The purpose of this review was to introduce various inactivated genes and evaluate their possible role in leukemia pathogenesis and prognosis. By searching the mesh words "Gene, Silencing AND Leukemia" in PubMed website, relevant English articles dealt with human subjects as of 2000 were included in this study. Gene inactivation in leukemia is largely mediated by promoter's hypermethylation of gene involving in cellular functions such as cell cycle, apoptosis, and gene transcription. Inactivated genes, such as ASPP1, TP53, IKZF1 and P15, may correlate with poor prognosis in acute lymphoid leukemia [ALL], chronic lymphoid leukemia [CLL], chronic myelogenous leukemia [CML] and acute myeloid leukemia [AML], respectively. Gene inactivation may play a considerable role in leukemia pathogenesis and prognosis, which can be considered as complementary diagnostic tests to differentiate different leukemia types, determine leukemia prognosis, and also detect response to therapy. In general, this review showed some genes inactivated only in leukemia [with differences between B-ALL, T-ALL, CLL, AML and CML]. These differences could be of interest as an additional tool to better categorize leukemia types. Furthermore; based on inactivated genes, a diverse classification of Leukemias could represent a powerful method to address a targeted therapy of the patients, in order to minimize side effects of conventional therapies and to enhance new drug strategies


Subject(s)
Humans , Gene Silencing , Prognosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Leukemia, Lymphocytic, Chronic, B-Cell , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Leukemia, Myeloid, Acute
4.
Cell Journal [Yakhteh]. 2016; 18 (2): 117-126
in English | IMEMR | ID: emr-183001

ABSTRACT

Ageing is a complex process and a broad spectrum of physical, psychological, and social changes over time. Accompanying diseases and disabilities, which can interfere with cancer treatment and recovery, occur in old ages. MicroRNAs [miRNAs] are a set of small non-coding RNAs, which have considerable roles in post-transcriptional regulation at gene expression level. In this review, we attempted to summarize the current knowledge of miRNAs functions in ageing, with mainly focuses on malignancies and all underlying genetic, molecular and epigenetics mechanisms. The evidences indicated the complex and dynamic nature of miRNA-based linkage of ageing and cancer at genomics and epigenomics levels which might be generally crucial for understanding the mechanisms of age-related cancer and ageing. Recently in the field of cancer and ageing, scientists claimed that uric acid can be used to regulate reactive oxygen species [ROS], leading to cancer and ageing prevention; these findings highlight the role of miRNA-based inhibition of the SLC2A9 antioxidant pathway in cancer, as a novel way to kill malignant cells, while a patient is fighting with cancer

5.
Cell Journal [Yakhteh]. 2015; 17 (2): 193-200
in English | IMEMR | ID: emr-166900

ABSTRACT

Beta-thalassemia is the most common single gene disorder worldwide, in which hemoglobin beta-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods; however treatment related complications have also increased. The most common side effect is osteoporosis, which usually occurs in early adulthood as a consequence of increased bone resorption. Increased bone resorption mainly results from factors such as delayed puberty, diabetes mellitus, hypothyroidism, ineffective hematopoiesis as well as hyperplasia of the bone marrow, parathyroid gland dysfunction, toxic effect of iron on osteoblasts, growth hormone [GH] and insulin-like growth factor-1 [IGF-1] deficiency. These factors disrupt the balance between osteoblasts and osteoclasts by interfering with various molecular mechanisms and result in decreased bone density. Given the high prevalence of osteopenia and osteoporosis in thalassemic patients and complexity of their development process, the goal of this review is to evaluate the molecular aspects involved in osteopenia and osteoporosis in thalassemic patients, which may be useful for therapeutic purposes

6.
Cell Journal [Yakhteh]. 2015; 17 (3): 395-411
in English | IMEMR | ID: emr-174873

ABSTRACT

Signal transducers and activators of transcription [STATs] are cytoplasmic transcription factors that have a key role in cell fate. STATs, a protein family comprised of seven members, are proteins which are latent cytoplasmic transcription factors that convey signals from the cell surface to the nucleus through activation by cytokines and growth factors. The signaling pathways have diverse biological functions that include roles in cell differentiation, proliferation, development, apoptosis, and inflammation which place them at the center of a very active area of research. In this review we explain Janus kinase [JAK]/STAT signaling and focus on STAT3, which is transient from cytoplasm to nucleus after phosphorylation. This procedure controls fundamental biological processes by regulating nuclear genes controlling cell proliferation, survival, and development. In some hematopoietic disorders and cancers, overexpression and activation of STAT3 result in high proliferation, suppression of cell differentiation and inhibition of cell maturation. This article focuses on STAT3 and its role in malignancy, in addition to the role of microRNAs [miRNAs] on STAT3 activation in certain cancers

7.
Acta Medica Iranica. 2014; 52 (4): 290-297
in English | IMEMR | ID: emr-159555

ABSTRACT

Vitamin D deficiency has been proposed as an associating factor with increased blood pressure. We studied the relationship between serum vitamin D and blood pressure in a large representative sample of Iranian population. In this cross-sectional study, based on the data of 2508 adults [aged between 20 and 70 years] from the Iran Multicenter Osteoporosis Study [IMOS], the association between serum vitamin D and blood pressure was investigated. There was a significant difference between mean [ +/- SD] vitamin D levels of the individuals with stage I hypertension and that of the three other groups [Normal: 32.9 [ +/- 27.5]; Prehypertension: 34.4 [ +/- 27.2]; Stage-I: 38.7 [ +/- 29.2]; Stage-II: 34.7 [ +/- 24.0] ng/ml; P<0.05. In multivariate regression models, the weak positive association of vitamin D and systolic blood pressure values disappeared after age and Body Mass Index [BMI] adjustment. We found a statistically positive but weak association between vitamin D serum concentration and systolic blood pressure. Considering the difference noted between our results and previous studies, further research is needed to assess the potential effect of ethnicity and genetic factors on these findings

8.
IJPR-Iranian Journal of Pharmaceutical Research. 2014; 13 (1): 283-289
in English | IMEMR | ID: emr-136456

ABSTRACT

This study was done to determine whether high or low dose of anti-snake venom [ASV] is better in coagulopathy in victims of envenoming by vipers. This retrospective study was conducted on the 154 patients [Mean age +/- SD, Range] of viper snake bites who were referred to the emergency ward of Razi Hospital, Ahvaz, Iran over 2 years period [2004 - 2006]. According to the treatment dosage the patients were divided in two groups include group 1 [78 cases], low dose regimen and group 2 [76 cases], high dose one. In group 1, the treatment was performed by administration of 4 to 6 vials of ASV through intravenous infusion. In group 2, the patients were given 5 to 10 vials of ASV as an initial dose. In low dose regimen, the number of received packed red blood cell was higher [14 vs. 3] in comparison with high dose group. The number of ASV vials the patients received was 5.5and 21.06 in group 1 and 2, respectively [5.5 +/- 1.7 vs. 21.06 +/- 10.89; p < 0.01]. The difference in frequency of coagulopathy complications, and need for using packed red blood cell were statistically significant [96.2% and 17.9% in group 1 vs. 34.2% and 3.9% in group 2, p < 0.01]. It seems that cautious usage of high dose of ASV [10 - 20 vials] without very special concerns about the cost, dose, and without hazardous side effects is essential for the routine management of sever snake envenoming

9.
IJPR-Iranian Journal of Pharmaceutical Research. 2014; 13 (3): 743-756
in English | IMEMR | ID: emr-196690

ABSTRACT

This epidemiological review was carried out to display the magnitude and the geographic distribution of scorpion envenomation in Iran with focus on the southwestern region of Iran, particularly. The Iranian recognized scorpions belonging to two families, including Buthidae and Scorpionidae. Buthidae family consists of 14 genuses, 26 species, and 18 sub-species, while Scorpionidae family has three genuses and four species. The lack of basic knowledge, including the geographical distribution, clinical manifestations, and specific treatments related to scorpiofauna justifies such multidisciplinary studies. The venom of two endemic Iranian scorpions, including Hemiscorpius lepturus [H. lepturus] and Odonthubuthus doriae [O.doriae] have considered as an effective source of new neurotoxin peptides for the further development of physio-pharmacological probes and designing the clinical trials. Such epidemiological information may improve the determinants of Iranian scorpion stings in order to plan and implement effective public health intervention

10.
IJPR-Iranian Journal of Pharmaceutical Research. 2013; 12 (Supp. 1): 145-151
in English | IMEMR | ID: emr-193183

ABSTRACT

Temporary paralysis is a rare manifestation of envenoming following the yellow Iranian scorpion, Odontobuthus doriae [O. doriae]. Thus, to elucidate the underlying mechanism, we investigated the neurotoxic effect of venom in the sciatic nerve, the possible mechanism in a mice model. The neurotoxicity and temperature effects in the venom-induced neurotoxicity were examined using the mouse sciatic nerve and mouse phrenic nerve-hemidiaphragm [MHD] preparations. O .doriae venom [1 [micro]g/mL] caused changes in the perineural waveform associated with nerve terminal action potentials. Venom affected on both negative and positive components of the waveform which is known as a compound action potential. The time-response relationship of venom-induced depression of resting membrane potential [RMP] was significant [p < 0.05]. No significant difference in augmentation was seen in room temperature in comparison with 37[degree]C. In conclusion, although there was no evidence that the venom had any specific curarizing action at the neuromuscular junction; the results suggest that the venom exerts its neuromuscular transmission on the sciatic nerve through potassium and sodium ionic-currents. Furthermore, the influence of temperature on neurotoxicity was ineffective on blockade of the neuromuscular transmission in-vitro

11.
MEAJO-Middle East African Journal of Ophthalmology. 2012; 19 (1): 101-106
in English | IMEMR | ID: emr-162712

ABSTRACT

The aim of this study was to report the incidence of retinopathy of prematurity [ROP] and the contribution of various risk factors to ROP in the south-western region of Iran. This cross-sectional case-control series reviewed all low birth weight [LBW,

12.
Scientific Medical Journal-Biomomthly Medical Research Journal Ahvaz Jundishapur University of Medical Sciences [The]. 2012; 11 (1): 11-24
in Persian | IMEMR | ID: emr-165414

ABSTRACT

Addiction to morphine impairs the behavioral and cognitive performances. The aim of the present study was to evaluate the effects of forced exercise [treadmill] on withdrawal signs after morphine deprivation, serum corticostrone level, and hippocampus neurons count in brain hemisphers in rats addicted to morphine. Adult male Wistar rats were divided into five groups with 10 in each: 1] exercised control [C+E], 2] sham exercised control [C+Sh.E], 3] addicted [A], 4] exercised addicted [A+E], and 5] sham-exercised addicted [A+Sh.E]. Withdrawal signs such as number of jumping, teeth chattering, wet-dog shaking, defecation, body scratching, and standingas number of were counted during 30 minutes after naloxone administration. Animals in exercised groups ran on treadmill one hour daily from 9-10 Am in the morning for ten consecutive days. Sham-exercised groups passed same times on turned off treadmill while its shock delivered system was turned on. At the end of experiments serum corticostrone level and hippocampus neurons count were done after decapitation the animals in all groups. The data were analyzed with one-way ANOVA that followed by LSD post hoc test. The differences between groups were accepted as significant with P value less than 0.05. Addiction to morphine increased withdrawal signs and corticostrone secretion significantly and reduced hipocampal neurons in brain, All off which were significant. Forced exercise could inhibit certain withdrawal signs induced by morphine deprivation in addicted rats while could not reverse increased corticostrone level and decreased hippocampus neurons. Despite of useful effects of forced exercise on health conditions and especially cognition during aging, it would cause impair severely some neurobehavioral and hormonal disorders in addicted rats to morphine

13.
Saudi Journal of Gastroenterology [The]. 2011; 17 (1): 53-57
in English | IMEMR | ID: emr-112928

ABSTRACT

This study was conducted to provide sonographic measurements of the abdominal esophagus length in neonate and infants with and without gastroesophageal reflux disease [GERD] and to investigate its diagnostic value. GERD severity was also evaluated and correlated with esophageal length. It is a prospective case-control study. This prospective case-control study comprised 235 neonates and infants [120 without reflux and 115 with reflux]. There were 40 children without reflux in each of three age categories: less than 1 month, 1-6 months, and 6-12 months. Of the children with reflux, 40 were less than 1 month old; 37,1-6 months; and 38, 6-12 months. The abdominal esophagus was measured from its entrance into the diaphragm to the base of gastric folds in fed infants. GERD was sonographically diagnosed and confirmed by a barium meal. The number of refluxes during a 10-min period were recorded. Neonates and infants with reflux had a significantly shorter abdominal esophagus than subjects without reflux: the mean difference in neonates, 4.65 mm; 1-6 months, 4.57 mm; 6-12 months, 3.61 mm. Children with severe reflux had a shorter esophagus compared with those with mild and moderate reflux only in the neonate group. Therefore, thinking of GERD and carefully looking for its symptoms is necessary to avoid unnecessary utilization of healthcare resources in children with severe reflux


Subject(s)
Humans , Esophagus/anatomy & histology , Severity of Illness Index , Case-Control Studies , Infant, Newborn , Infant
14.
The Korean Journal of Parasitology ; : 17-23, 2011.
Article in English | WPRIM | ID: wpr-190230

ABSTRACT

The aim of this study was to assess the cytotoxic effects of various concentrations of miltefosine on Leishmania major (MRHO/IR/75/ER) and L. tropica (MHOM/IR/02/Mash10) promastigotes and to observe the programmed cell death features. The colorimetric MTT assay was used to find L. major and L. tropica viability and the obtained results were expressed as 50% inhibitory concentration (IC50). Also, 50% effective doses (ED50) for L. major and L. tropica amastigotes were also determined. Annexin-V FLUOS staining was performed to study the cell death properties of miltefosine using FACS analysis. Qualitative analysis of the total genomic DNA fragmentation was performed by agarose gel electrophoresis. Furthermore, to observe changes in cell morphology, promastigotes were examined using light microscopy. In both strains of L. major and L. tropica, miltefosine induced dose-dependent death with features of apoptosis, including cell shrinkage, DNA laddering, and externalization of phosphatidylserine. The IC50 was achieved at 22 microM and 11 microM for L. major and L. tropica after 48 hr of incubation, respectively. ED50 of L. major and L. tropica amastigotes were 5.7 microM and 4.2 microM, respectively. Our results indicate that miltefosine induces apoptosis of the causative agent of cutaneous leishmaniasis in a dose-dependent manner. Interestingly, L. major did not display any apoptotic changes when it was exposed to miltefosine in concentrations sufficient to kill L. tropica.


Subject(s)
Animals , Humans , Mice , Apoptosis/drug effects , Cell Cycle/drug effects , Cell Line , DNA Fragmentation/drug effects , Leishmania major/cytology , Leishmania tropica/cytology , Leishmaniasis, Cutaneous/parasitology , Phosphorylcholine/analogs & derivatives
15.
Pakistan Journal of Medical Sciences. 2010; 26 (1): 43-48
in English | IMEMR | ID: emr-93428

ABSTRACT

To examine the role of anesthetists in the management of cardiac arrest occurring in association with cardiac anesthesia. In this retrospective study we studied the potential performances for each of the relevant incidents among 712 patients undergoing cardiac operations at Golestan and Naft Hospitals Ahwaz between November 2006 and July 2008. Out of total 712 patients undergoing cardiac surgery, cardiac arrest occurred in 28 cases [3.9%] due to different postoperative complications. This included massive bleeding [50% of cardiac arrest cases, 1.9% of patients]; pulseless supra ventricular tachycardia [28.5% of cardiac arrest cases, 1.1% of patients]; Heart Failure [7% of cardiac arrest cases, 0.2% of patients]; Aorta Arc Rapture [3.5% of cardiac arrest cases, 0.1% of patients]; Tamponade due to pericardial effusion [3.5% of cardiac arrest cases, 0.1% of total patients]; Right Atrium Rupture [3.5% of cardiac arrest cases, 0.1% of patients] were detected after cardiac surgery. Out of 28 cases 7 deaths occurred [25% of cardiac arrest cases, 0.1% of patients]. The most prevalent reason for cardiac arrest during post operative phase was massive bleeding [50%] followed by pulseless supra ventricular tachycardia [28.5%]. Six patients had some morbidity and the remaining 15 patients recovered. There are often multiple contributing factors to a cardiac arrest under cardiac anesthesia, as much a complete systematic assessment of the patient, equipment, and drugs should be completed. We also found that the diagnosis and management of cardiac arrest in association with cardiac anesthesia differs considerably from that encountered elsewhere


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Retrospective Studies , Anesthesia , Cardiac Surgical Procedures/adverse effects
16.
Pakistan Journal of Medical Sciences. 2010; 26 (4): 942-945
in English | IMEMR | ID: emr-145232

ABSTRACT

To compare serum zinc level between Thalassemia Major [TM] patients and normal population at Shafa Hospital in South West of Iran. A total of 25 male and 36 female of TM patients were enrolled in this study. Out of 61 patients thirty were treated by deferroxamine [DFO] and 31 were on the combination of DFO and deferiprone [DEF] protocol therapy. Sixty normal subjects of the matching age and gender were recruited as controls. From each patient and control group 2 ml of blood was taken in fasting condition. Cell blood count and serum zinc were carried out for both thalassemia patients and normal subjects. The mean age of patients and control group was 15 +/- 5years. Mean serum zinc level was 68.97 +/- 21.12microg/dl, 78.10 +/- 28.50 microg/dl, and 80.16 +/- 26.54 microg/dl in the TM with DFO, TM with DFO + DEF combination protocol and control group respectively. There was no significant correlation between patients and control group. However 50 percent of TM with DFO, 38.7 percent of TM with DFO + DEF and 32.8 percent of control group had hypozincemia. Nearly 40 to 50 percent of TM patients and one third of normal subjects are suffering from hypozincemia. This study shows that low level of serum zinc is a health problem in both thalassemia patients and normal population in South West of Iran


Subject(s)
Humans , Male , Female , Adolescent , Child , Adult , beta-Thalassemia/blood , Zinc/deficiency , Pyridines , Iron Chelating Agents/adverse effects
17.
Pakistan Journal of Medical Sciences. 2009; 25 (5): 749-754
in English | IMEMR | ID: emr-93604

ABSTRACT

To describe and quantify the functional change of the lung in patients with beta-thalassemia major [TM] and determine the correlation between pulmonary function test [PFT] results with hemoglobin, ferritin and age changes. Pulmonary function tests were performed on 60 transfusion-dependent patients with TM, ranging in age from 10 to 45 years. Percent-predicted values for forced expiratory volume in one second [FEV1], and forced expiratory flows [FEF] 25-75% were significantly reduced, whereas forced expiratory vital capacity [FVC] and FEV1/FVC were closed to normal limits, indicating a restrictive disease. All factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were negatively correlated with age and ferritin levels. In contrast, all factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were positively correlated with hemoglobin [Hb]. We performed linear regression analysis to study the simultaneous influence of the presence of age, ferritin, and Hb on obstructive PFT indexes. Pulmonary function test results were normal in only 32 [53.3%] of 60 patients and the rest 28 cases [46.7%] showed abnormal pulmonary function. FEV1 and FEF25%-75% have significant negative correlation with age [r=- 0.64 p[r]=0.003 and r=- 0.58 p[r]=0.02 respectively], also have significant positive correlation with Hb [r=0.31 p[r]=0.015 and r=0.33 p[r]=0.01 respectively], and only FEF25%-75% has significant negative correlation with ferritin [r=-0.26 p[r]=0.04]. The present study has shown that restrictive disease and reduced lung diffusing capacity are the predominant abnormalities of pulmonary function in patients with TM. The low hemoglobin concentration and a fall in the diffusing capacity of the alveolar-capillary membrane, together with the dependence of the reduced pulmonary diffusing capacity on age and serum ferritin levels, as well as of the entity of restrictive disease on age, suggests that pulmonary dysfunctions in patients with TM are due mainly to lung fibrosis and/or interstitial edema related to iron overload


Subject(s)
Humans , Male , Female , Respiratory Function Tests , Pulmonary Diffusing Capacity , Hypertension, Pulmonary , Ferritins , Random Allocation , Hemoglobins/deficiency , Age Factors
18.
Indian J Hum Genet ; 2007 Jan; 13(1): 5-15
Article in English | IMSEAR | ID: sea-138817

ABSTRACT

BACKGROUND: The hemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassemias) or the synthesis of structurally abnormal hemoglobin (Hb). The thalassemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and hematological phenotypes. Hematological and biochemical investigations and family studies provide essential clues to the different interactions and are fundamental to DNA diagnostics of the Hb disorders. Although DNA diagnostics have made a major impact on our understanding and detection of the hemoglobinopathies, DNA mutation testing should never be considered a shortcut or the test of first choice in the workup of a hemoglobinopathy. MATERIALS AND METHODS: A careful three-tier approach involving: (1) Full blood count (2) Special hematological tests, followed by (3) DNA mutation analysis, provides the most effective way in which to detect primary gene mutations as well as gene-gene interactions that can influence the overall phenotype. With the exception of a few rare deletions and rearrangements, the molecular lesions causing hemoglobinopathies are all identifiable by PCR-based techniques. Furthermore, each at-risk ethnic group has its own combination of common Hb variants and thalassemia mutations. In Iran, there are many different forms of α and β thalassemia. Increasingly, different Hb variants are being detected and their effects per se or in combination with the thalassemias, provide additional diagnostic challenges. RESULTS: We did step-by-step diagnosis workup in 800 patients with hemoglobinopathies who referred to Research center of Thalassemia and Hemoglobinopathies in Shafa Hospital of Ahwaz Joundishapour University of medical sciences, respectively. We detected 173 patients as iron deficiency anemia (IDA) and 627 individuals as thalassemic patients by use of different indices. We have successfully detected 75% (472/627) of the β-thalassemia mutations by using amplification refractory mutation system (ARMS) technique and 19% (130/627) of the β-thalassemia mutations by using Gap-PCR technique and 6% (25/627) as Hb variants by Hb electrophoresis technique. We did prenatal diagnosis (PND) for 176 couples which had background of thalassemia in first pregnancy. Result of PND diagnosis in the first trimester was 35% (62/176) affected fetus with β-thalassemia major and sickle cell disease that led to termination of the pregnancy. CONCLUSION: Almost all hemoglobinopathies can be detected with the current PCR-based assays with the exception of a few rare deletions. However, the molecular diagnostic service is still under development to try and meet the demands of the population it serves. In the short term, the current generation of instruments such as the capillary electrophoresis systems, has greatly simplified DNA sequence analysis.

19.
Pakistan Journal of Medical Sciences. 2007; 23 (5): 765-770
in English | IMEMR | ID: emr-163841

ABSTRACT

Thalassemia is the most important hemoglobinopathy in Khuzestan province. Thalassemia intermedia [TI] is a genetically heterogenous disease and can result from many different genetic lesions. We report two cases of TI-EMH caused by two separate mechanism and their successful management. Magnetic Resonance Imaging [MRI] is the best diagnostic method in these cases. Management can be done via: Transfusion therapy, Radiotherapy, Hydroxyurea [HU], and Surgery. A 17 years old girl with beta-TI previously asymptomatic presented with back pain and leg weakness which started one month ago. The other patient was 25 years old man referred to hospital with back pain, paresthesia, urine frequency and impairment of gait. In the first case the cause of cord compression was the osseous expansion while in the second patient it was related to soft tissue EMH. First patient was successfully treated with low dose radiotherapy and HU. Radiotherapy was initiated with 200cGY fractions to a total dose of 1600cGY and HU 10mg/kg/day. At the end of radiotherapy, the patient was ambulatory with mild residual weakness. She was regularly followed for two years; at present she is active and asymptomatic. The second patient was successfully treated with low-dose radiotherapy and HU. Radiotherapy was started in 200cGY fractions to a total dose of 1600cGY and HU was given at 10mg/kg/day. At the end of radiotherapy the patient was ambulatory with mild residual weakness. He was regularly followed for six months. At his last visit, he was able to walk and climb stair without any assistance. His neurological examination was much better than before. The most common site of spinal epidural extramedullary hematopoiesis is the posterior aspect in the thoracic spine. EMH can be prevented by regular transfusion therapy which corrects anemia and thereby abolishes the stimulus for EMH. Surgical decompression is the method of choice for the management of EMH because histological diagnosis can be established and immediate decompression of the mass can be achieved. This is especially important to decompress the spinal cord quickly in patients with epidural mass caused by EMH. The disadvantages of surgical intervention include risk of excessive bleeding due to high vascularity of the mass and higher incidence of recurrence. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with an intrathoracic mediastinal mass

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