[Carrier frequency of alpha thalassemia mutations among newborns in northern Iran]

Background and Objective: Alpha Thalassemia is one of the most prevalent hemaglobinophaties worldwide. Alpha thalasseima patients may represent wide spectrum of symptoms ranging from asymptomatic to severe life threatening anemia. This study was done to assess the carrier frequency of alpha globin gene mutations among newborns in north of Iran

Methods: In this descriptive study, 412 cord blood samples of neonate from Amir Mazandari hospitali were randomly selected during 2012. Genomic DNA was extracted using phenol-chloroform method. Multiplex Gap- PCR and PCR-RFLP methods were applied in order to detect three common gene deletions, one triplication and one point mutation

Results: Total allelic frequency of investigated mutations was 0.0825. The -alpha3.7 deletion with allelic frequency of 0.0485 was the most prevalent mutation among 412 neonates. Allelic frequencies of -alpha4.2, alphaalphaalphaanti3.7 triplication and alpha-5nt mutations were 0.0206, 0.0109 and 0.0024; respectively and -Med double gene deletion was not detected

Conclusion: Most mutated cases had single gene deletion that is asymptomatic while -Med double gene deletion was not detected among the neonates. Therefore, there is low probability of a child birth with Hb H disorder in the region

Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran

Background and Objective: Hemoglobin D-Punjab is one of the variant of hemoglobin caused by a mutation on position 121 of beta globin gene which is frequent in India, PakistanandIran. Heterozygote form of this variant is mainly asymptomatic while in combination with hemoglobin S, severe form of anemia occure. This study was carried out to determine the beta globin gene haplotypes associated with hemoglobin D-Punjab in Northern Iran. Methods: This descriptive study was carried out on families of 18 individuals whom were carriers of hemoglobin D-Punjab in Sari in Northern Iran. Genomic DNA was extracted from peripheral blood samples using Phenol-chloroform st and ard protocol. In order to identify different haplotypes associated with hemoglobin D-Punjab, PCR-RFLP method and family linkage analysis were used. Results: In 17 subjects hemoglobin D-Punjab was linked to [+ - - - - + +] haplotype and in one case association with [- + + - + + +] haplotype was observed. Conclusion: The hemoglobin D-Punjab alleles have mainly unicentric origin and [- + + - + + +] rare haplotype may have different genetic origin or is created as a result of gene recombination

[Correlation between rectal diameter and constipation with urinary tract infections in children]

Urinary tract infection is the second common bacterial infection in children. Constipation as a risk factor in urinary tract infection was reported by several studies. This study was carried out to evaluate the relationship between rectal diameter and constipation with urinary tract infections in children. This case - control study was performed on 40, 2-12 years old hospitalized children with urinary tract infections as cases and 40 healthy children with the same age as controls in Boali Hospital in Sari, Iran. Rectal diameter was measured by ultrasonography. Demographic characteristics, rectal diameter, during of infectious and disease clinical signs were recorded for each subject. Constipation was observed in 62.5% and 17.5% of cases and controls, respectively [P<0.05]. Rectal diameter was 47.64 mm and 26.48 mm in case and control groups, respectively [P<0.05]. Regarding to increasing of rectal diameter in patients with urinary tract infections in comparison with healthy subjects, ultrasonography can be a reliable method either to confirm or reject the presence of constipation in urinary tract infections

[Comparison of the effects of Myo-inositol alone or in combination with MEM vitamins on embryo development in Sanjabi Sheep]

The objective of this study was to evaluate the effects of myo-inositol alone or in combination with MEM vitamins on embryo development in sanjabi sheep. Sheep Cumulus Oocytes Complexes [COCs] were matured in vitro at 39 °C, in humidified 5% CO2 atmosphere for 22-24 h. There were three treatments, culture in synthetic oviductal fluid medium [treatment I], culture in synthetic oviductal fluid medium supplemented with1 x MEM vitamins [treatment II], culture in synthetic oviductal fluid medium supplemented with myo-inositol [treatment III], COCs were then fertilized and cultured in vitro for and days when the ratios of in vitro embryo development of the hatched blastocysts were assessed and compared with the control group. The presence of myo-inpsitol significantly improved overall morula rates [34.39%] than that of control group [24.18%], but there was no difference between myo-inositol and 1 x MEM vitamins in the percentage of embryos successfully developing to the morula stage [p<0.05]. The addition of myo-inositol improved the mean blastocyst formation compared to the oocytes matured in medium containing no MEM [control] or 1 x MEM vitamins [32.63, 13.96 and 21.06% respectively]. However, the mean percentage of cleavage rate was not substantialy different between treatments. These results suggest that adding myo-inositol to SOF medium be more beneficial for subsequent sheep embryonic development

Clinical efficacy and safety of polyethylene glycol 3350 versus liquid paraffin in the treatment of pediatric functional constipation

Functional constipation is prevalent in children. Recently polyethylene glycol has been introduced as an effective and safe drug to treat chronic constipation. There are only a few clinical trials on comparison of PEG and liquid paraffin in childhood constipation. The purpose of this study was to evaluate clinical efficacy and safety of PEG 3350 solution and liquid paraffin in the treatment of children with functional constipation in Sari Toba clinic during the period of 2008-2009. Children with a history of functional constipation were subjects of this study. One hundred and sixty children of 2-12 years old with functional constipation were randomized in two PEG and paraffin treatment groups. Patients received either 1.0-1.5 g/kg/day PEG 3350 or 1.0-1.5 ml/kg/day liquid paraffin for 4 months. Clinical efficacy was evaluated by stool and encopresis frequency/week and overall treatment success rate was compared in two groups. Results and major conclusion: Compared with the baseline, defecation frequency/ week increased significantly and encopresis frequency meaningfully decreased in two groups during the period of the study. Patients using PEG 3350 had more success rate [mean: 95.3% +/- 3.7] compared with the patients in paraffin group [mean: 87.2% +/- 7.1] [p=0.087]. Administration of PEG 3350 were associated with less adverse events than liquid paraffin. In conclusion in treatment of pediatric functional constipation, regarding clinical efficacy and safety, PEG 3350 were at least as effective as liquid paraffin and but less adverse drug events

study of relationships between beta-globin gene mutations in beta-thalassaemia patients, in response to hydroxyurea treatment

Beta-thalassaemia is the most frequent inherited disorder in the world, especially in Iran and Mazandaran Province. It is caused by mulation in beta-globin gene on chromosome 11 with more than 150 different mulations causing beta-thalassaemia, has been identified in the beta-globin gene to date. Hydroxyurea, is one of the drugs used in Thalassemia patient's treatment, however, it is not effective in all patients. The mechanisms of the hydroxyuea effect in not clear yet. This study compared different beta-globin gene mutations in beta-thalassaemia patients who were referred to the Thalassemia Research Center in Sari in two groups, good responder and non-responder, to the hydroxyurea. This was a case-control study, comparing two groups of 30 thalassaemic patients who received hydroxyurea. Two groups were included, 30 good responders to hydroxyurea treatment [control] and 30 who did not respond to the treatment [case]. First, DNA was extracted from peripheral blood. Then, two different methods for mutation detection were used. In the Thalassaemia Research Center in Sari, mutations in 60 patients were identified using ARMS-PCR. Also the results were confirmed in Genetic laboratory of Amirkola, using two mutation detection methods, reverse-dot blot hybridization and ARMS-PCR. In the group of good responder [control], the average patient's age were 28/1 +/- 7/78 years, and the average age at the onset of blood transfusion was reported to be 8/5 +/- 8/56 year. In this group, the mean comparison of the hemoglobin level and red blood size [MCV] prior and after drug consumption were statistically significant. In the group of non-responder [case], the mean age was 21.3 +/- 6.43, the mean age starting blood transfusions was 3.3 +/- 3.75, and the mean of drug consumption was 2.3 +/- 0.8 months. From the mutations identified, IVSII-1G>A was the most common type in both case and control group, while of 30 of control group, 22 individuals were homozygous, and 7 individuals were heterozygous for this mutation [frequency% 42.5]. For the 30 case patients, 11 individuals were homozygous, while 11 were heterozygous [frequency% 27.5]. Comparison between two groups, case and control group, were statistically significance [P < 0.008]. The correlations of IVSII-1G>A mutation in good responder patients to hydroxyurea as compared to the non responder group, is significant and similar to the previous findings

Prevalence of elimination dysfunction, among primary school age children in Sari

Elimination dysfunction is referred to have various difficulties in urination and defecation, such as urinary frequency, delayed with difficulty in voiding or defecation. The prevalence of elimination dysfunction has been varied in different studies, as 21% of children experience elimination dysfunction during their childhood period. Presently, there are no studies pertaining to this difficulty in our country. Therefore, we carried out a descriptive study in primary schools from the Sari Township, regarding voiding and defecation dysfunction among children, and also we identified the epidemiology of the disease, in order to solve problems by implementing teaching programs and screening methods. This cross-sectional study was done on Primary school age students in the Sari Township, during 2007 through 2008. Considering the prevalence of elimination dysfunction [15-25%], confidence coefficient 95%, SE 10%, and the sample size of 2, 200 were randomly and equally selected from different parts of the township among the two-sex groups. A standard questionnaire including demographic characteristics and 10 questions on voiding status, in addition to 19 questions regarding defecation status was prepared. Questionnaires were distributed to the students by responsible school personnel and then referred to parents for completion. Data was analyzed by SPSS software and descriptive statistics [Frequency, Mean, and Standard Deviation]. Chi Square test [X[2]] and Student T-test were used to compare the Means. P < 0.05 was considered significant. Of 2201 primary school age students, 48.7% were girls. The mean age was 8.96 +/- 1.43 year. Voiding and defecation dysfunction was reported in 38.4% and 29% of the cases respectively. There was no significant relationship between prevalence of voiding dysfunction and other factors such as mean age, sex and level of education; however, there was a significant relationship between elimination dysfunction in other variables such as age, sex, level of education, family history, Soya and fiber diet in-take and environmental stressors. The mean age of children with voiding dysfunction was less than children without this problem. However, the prevalence of familial stress was higher than those involved children. Public Health Education is recommended to teach the different kinds of elimination dysfunction symptoms in urban and rural areas, in addition, to reduce the undesirable complications of the disease due to delay in referrals

[ effect of hudroxyurea on extramedullary hematopoietic masses in patients with beta-thalassemia intermediate]

Since the need for transfusions in thalassemia intermediate [TI] patients is limited into some rare occasions they are almost always referred complaining of problems due to chronic anemia, bone marrow hyper-functioning [such as gall stones, osteoporosis] and also extramedullary hematopoiesis masses [EHM]. Different treatment modalities have been reported for managing the latter complication. We carried out this study to evaluating the effects of Hydroxyurea in reducing the size of such masses. The study was clinical trial comparing before and after characteristics of the patients referred to the Talassemia Research center from 2003 to 2006. Presentation of all was pain, weakness, paresthesia of legs and paraparesia/paraplegia. Diagnosis of EHM was confirmed by Spinal MRI [a 1.5 Tesla, Toshiba machine]. Hydroxiurea [Syrea, Medac, Germany] was administered 10-20 mg/kg/day. CBC, Urea, Creatinin were checked monthly. A Neurologist was observing the progression of patients. The second MRI was performed 3-6 months later. Another radiologist unaware of the sequence of imaging reported the changes of EHM during the period. Paired-t test and McNemar test were applied to compare the results. P< 0.05 was considered as statistically significant. Eight patients [7 males and 1 female] were enrolled in our study. Their age ranged from 26-44 years old. None had undergone transfusion, nor had they used pain killers. Neurologic symptoms were initiated from one week to a couple of months prior to their admission. They had administered Hydroxyurea in recommended dosage. The follow up takes 0.7 - 4.7 years. All subjects improved within 2 weeks, whereas none of them needed surgical procedures and radiotherapy. Both the MCV and NRBC changes were significant [P<0.02]. No considerable side-effects were noticed within the follow up period. HU is proved to be both effective and safe in treatment of EHM amongst patients with thalassemia intermediate who develop neurological symptoms. We suggest hydroxyurea as a "prophylactic agent" for several complications of TI

[Effect of demecolicne treatment on the developmental competency of in vitro matured bovine oocytes]

The aim of this study was to investigate whether demecolicne treatment of matured bovine oocytes adversely affects the process of in vitro fertilization and embryo development. Bovine Cumulus Oocyte Complexes [COC's] were matured in vitro and then were randomly allocated to two treatment groups of common concentrations of demecolicne [0.05 and 0.4 micro g/ml for 30 min] and a control group. COC's were then fertilized and cultured in vitro for up to 9 days when the ratios of in vitro embryo development and the viability of the hatched blastocysts were assessed and compared with the control group [p<0.05]. The ratios of the cleavage and blastocyst formation of demecolicne treated groups [0.4 and 0.05 micro g/ml] were 68.6, 63.5% and 23.3, 32.8%, which were not significantly different from the control group [73.3, 29.0%], respectively. The results of cell-viability were also not significantly different between the control vs. treatment groups. Since the overall indices of in vitro embryo development revealed no significant difference between the demecolicne treated compared to control bovine oocytes, it seems that demecolicne treatment of matured bovine oocytes may not compromise their potency for further in vitro development

Facilitating effects of morphine dependence on spatial learning and memory in rat

The effect of morphine on spatial learning and memory is controversial. In the present study, the male rats were used to evaluate the effect of morphine dependence and cold water swimming on spatial learning and memory. Dependent animals received morphine sulfate in drinking water for 25 days. Animals were divided into four groups in simple randomized manner. The first control and dependent groups, were studied in normal water [20 +/- 2 °C], and the second control and dependent groups were studied in cold water [10-12 °C]. Morris Water Maze [MWM] experimentations were begun from 21st to 25th days of morphine administration. In each group of animals, spatial learning and memory parameters were analyzed. The results showed that morphine dependence may facilitates spatial learning and memory in MWM, and cold water reduces swimming speed but facilitating the formation of spatial memory. On the other hand, cold water swimming abolished the effects of morphine on spatial learning but facilitated its effect on spatial memory. The underling mechanism[s] to these phenomenon remains to be elucidated

[Evaluation of clinical manifestations and therapeutic and diagnostic progression of dyspepsia in children referred to Boo-Ali Hospital of Sari in 2005-2006]

Chronic abdominal pain is a common clinical problem in children. Apleys reported the incidence of 10-15% of chronic abdominal pain in school age children, but recent studies reported 20% of that type of pain. The aim of this study was determining the spectrum of clinical manifestations of dyspeptic children and to identify the relation between some clinical symptoms, organic or functional dyspepsia, and long term follow up of functional type. This descriptive case series study was done on 232 children between 4 and 18 years of age complaining about chronic abdominal pain chiefly who had referred to pediatric gastroenterology department of Boo-Ali Hospital of sari in 2005-2006. A checklist composed of patient demographic criteria and pain characteristics was prepared. Physical exam and laboratory tests such as AST, ALT, U/A, U/C, S/E, ESR, CBC were performed for all patients. If there were any alarming signs of organic abdominal pain-persistence or recurrence of symptoms and severe disability despite the use of H-blockers-upper GI endoscopies was indicated. Recorded data were analyzed by SPSS software and Chi- square tests. 102 of 232 patients had dyspepsia; 59 were girls [9.2y/o], and 43 were boys [7.5y/o]. 65 out of 102 patients had dominant abdominal pain and the rest had flatulence, vomiting and early fullness. 64 of them went under UGI endoscopies. 28 of 64 had mucosal erosion. Because the functional or organic abdominal pain has not unique diagnostic criteria, and the data about pathological change in children are fewer than that of adults we recommend the clinical findings and biochemical change of mucosa for differential diagnosis in children

Molecular identification of Candida albicans isolated from the oncology patients at four university hospitals in Mazandaran province [2005-6]

Early detection of Candida species in body site could improve the survival of the immunosuppressed patients by allowing the initiation of specific treatment while the fungal biomass is still low. The aim of this study was the identification of Candida albicans isolated from the oncology patients by molecular methods. Sixty two of Candida albicans isolated identified by phenotypic methods [color of colony on CHROMagar medium, germ-tube formation in horse serum, chlamydospore formation on Cornmeal agar with 1% Tween 80]. DNA was extracted by using a glass bead/phenol-chloroform method. The oligonucleotide primer pairs [NL1/NL4] were used to amplify a 620bp fragment of D1/D2 region of large submit [26s] ribosomal DNA gene. PCR-products were electrophoresed in a 1.5% agarose gel. Eighteen PCR-amplified products sequenced and results were evaluated by online BLAST software. Multiple sequence alignment was performed by using online CLUSTAL-W [version 1.83] software. The BLAST search revealed that all of products were Candida albicans. All sequences showed >99% similarity when compared with known reference sequences at the Gene-Bank. Four different strains were obtained of albicans species, including: AA 1622b [13 samples], 24698 [3 samples], TA 62 [1 samples] and 551 FC [1 sample]. A total of 131 nucleotide exchange sites were revealed. The dominant species by phenotypic approaches was Candida albicans. In addition, identification of Candida albicans by [26S] rDNA sequencing was 100% concordant to the results obtained by the phenotypic methods

Assessment of the effect of combination therapy with deferiprone and desferrioxamine on cardiac complications in major thalassemia

Cardiac complications in major thalassemia are the most debilitating problem among them. Iron chelating with desferrioxamine, may be difficult or inadequate. The aim of this research is to evaluate the effect of combination therapy with the two drugs "deferiprone and desferrioxamine" on cardiac complications in major thalassemia. In a clinical trial study [before and after], 47 [24 men and 23 women] patients with major thalassemia referred to Booali research center, 10 to 35 years old, all of whom were undertaken combination therapy with deferiprone and desferrioxamine, enrolled in this study. Echocardiography was performed for all patients before and after at least 6 months of combination therapy. Echocardiographic systolic and diastolic function indices including LVEF, EPSS, CI and E/A, EF slope and MPI, as well as presence of arrhythmia were obtained. The data were analyzed by paired T Test and Pearson correlation. There were significant changes in ferritin, systolic function and MPI, indicating statistically significant improvement. Ferritin decreased to 3306 +/- 1347ng/ml from 4489 +/- 1607ng/ml [p=0.000]. LVEF increased to 69.7 +/- 2.6% from 67.6 +/- 3.9% [p=0.04]. EPSS decreased to 2.9 +/- 1.3mm from 3.9 +/- 2.1mm [p=0.004]. Cardiac Index increased to 3.6 +/- 0.18 from 3.5 +/- 0.3 [p=0.02]. MPI decreased to 0.33 +/- 0.05 from 0.37 +/- 0.06 [p=0.03]. Arrhythmia and diastolic function were also slightly improved which were statistically nonsignificant. The results showed that combination therapy with the two drugs deferiprone and desferrioxamine led to decrease ferritin level and improve systolic function in patients with major thalassemia

Relationship between use of hydroxyurea and cholelithiasis in patients with major and intermediate beta-thalassemia

Cholelithiasis is a common problem among patients with homozygous major and intermediate beta-thalassemia due to chronic hemolysis, ineffective erythropoesis and other factors that causes variety of side effects. Hydroxyurea [HU] decreases hemolysis by increasing HbF production in homozygous beta-thalassemia patients. Up to now, there have not been evidences about relationship between use of Hydroxyurea and cholelithiasis in the patients. The aim of this study was to determine the relationship between use of HU and incidence of cholelithiasis in patients with major and intermediate beta-thalassemia referred to thalassemia research center of Mazandaran University of medical sciences at Boo-Ali Sina hospital of Sari, IRAN. This historical cohort study was performed in 2006. Study population was major and intermediate beta-thalassemia patients referred to Boo-Ali Sina Hospital of Sari, IRAN. The patients were divided to two groups: case and control groups. The case group [36 patients] was consisted of major or intermediate beta -thalassemia patients using hydroxyurea at least for one year, and the control group were: non-hydroxyurea user patients or beginning to use the drug less than 3 months. The groups were matched on order to age, gender and severity of the disease. Severity of the disease was determined according to grading, clinical and laboratory characteristics of the patients. Data about demographic information, severity of the disease and results of hepatobiliary ultrasound were recorded in a questionnaire. The data was analyzed using SPSS [11] software and t-test, Chi-square test and fisher exact test. Thirty-six [20 women [55.6%]] patients in case group and 36 [19 women [52.8%]] patients in control group were studied. The mean duration of use of hydroxyurea was 67.9 +/- 25.5 months with maximum 108 months [9 year]. The mean dosage of the drug was 14.9 +/- 5.9 mg/kg with maximum dosage 34 mg/kg. Thirteen [48.1%] patients in control group [12 cholelithiasis, 1 sludge] and 6 [19.4%] patients in case group [5 cholelithiasis, 1 sludge] had abnormal hepatobiliary sonography. The difference between two groups was significant statistically [P<0.02]. Among the different variables, a significant relationship was detected between gender of the patients and effect of HU on cholelithiasis. This study showed that the incidence of cholelithiasis in major and intermediate beta-thalassemia patients using hydroxyurea was less than non-hydroxyurea user patients did. As a result, it seems that there was a preventive effect of hydroxyurea in incidence of cholelithiasis in major and intermediate beta-thalassemia patients

Survey on relation between major thalassemia and desferiexamine with renal tubular damage

Thalassemia is a hereditary quantitative hemoglubinopathy which is common in mediteranian area including IRAN. Homos zygotic beta thalassemia patients suffer from severe anemia and complication of the disease in many organs. Studies have shown different results about renal complication and disease. Thus, in this study we investigated renal function of thalassemia Major [TM] patients in comparison with control group. This was a historical cohort Study. The population who TM patients was were admitted to Boalisina hospital, Sari, and control group were brothers and sisters of the patients who were matched in gender and age. Serum and urine markers of renal function were measured and demographic and therapeutic data were gathered from medical records. Analysis of the data was performed using SPSS 11 with statistical test [t, chi square]. The Total of 84 [42 patients and, 42 controls] patients were studied. The Mean age of the patients was 21.3 +/- 5.2 years. Dose of Deferral was 70 +/- 19 mg/kg. The results showed no significant statistical differences in levels of beta2 microglobulin, 24 urine protein, Excretion Fraction of Na and K between case and control group. There was significant differences in levels of serum BUN, creatinin, Potassium and urine potassium and creatinin between case and control group. Gender, level of Hb and serum Ferritin significantly affected the differences between two groups. In this study, evidences of renal tubular damage were not detected in TM patients. There was increase in levels of Bun, serum potassium, uric Acid, specially with severe anemia, high dose desferal and Iron over load

Case series of 111 Hirschsprung's disease among chronic constipated children referring to BooAli Sina hospital from 1997 to 2006

Hirschsprung's disease [HD] as an organic cause of children constipation is only treated by surgical intervention. Regarding of variety of clinical manifestation of HD and lack of information about it in Sari, this study describes the prevalence of HD in constipated children referring to BooAli Hospital. This descriptive study was undertaken on children with protracted constipation and neonate suspicions for HD referring to BooAli Sina Hospital of Sari [1997-2006]. Clinical and pathological data of patients were collected from their records and analyzed using SPSS 13 software. 226 children were presented with constipation at a mean age of 30.6 +/- 34.8 months [range, 0.69-1.6 months]. Rectal biopsy performed in 187 cases. HD was diagnosed in 59.4% of biopsied patients. The mean age of patients diagnosed was 24.8 +/- 33.2 months. 27.1% patients with HD were diagnosed in the first month, 44.1% in 1-12, 18% in 12-48 and 10.8% in over 48 months. This study revealed 59.4% of protected chronically constipated children had HD, indicating usefulness of rectal biopsy in these patients

[ 6-month old girl with chylous ascites and neuroblastoma]

A 6 years old girl was reffered to Booali Cina hospital, Sari, Iran for abdominal distention. Physical examination showed ascites.The fluid was milky in color.Biochemical test showed cylous ascites. The patient was treated with albomin-Vitamins-YPN. Ascites decreased, but second ultrasonography and abdominal CT showed a solid mass. Laparatomy was done and there was a big mass in paravertebral area, biopsy comfirmed the diagnosis of neuroblastoma

Prevalence of intestinal parasitic infections in the Islamic Republic of Iran

A national survey of the prevalence of intestinal parasitic infections in the Islamic Republic of Iran was made on a r and om sample of families covered by local health centres affiliated to the medical universities. Out of 53,995 people aged 2+ years, from 12,495 families [0.1% of all families in 1999], 45,128 stool samples were analysed by formalin-ether precipitation. Intestinal parasitic infections were found in 19.3% of the study population [19.7% male, 19.1% female]. Giardia lamblia [10.9%], Ascaris lumbricoides [1.5%], Entamoeba histolytica [1.0%] and Enterobius vermicularis [0.5%] were the most common infections. The infection rate was highest in the 2-14 years age group [25.5%] and in rural residents [23.7%]