Zahedan Journal of Research in Medical Sciences
Year:2016 | Volume:18 | Issue:10|Papers Count:9

Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (BCKD).Methods: In this study, the coding regions and flanking splice sites of the BCKDHA, BCKDHB, DBT and DLD genes have been sequenced in an Iranian 3 years old girl.Results: A novel homozygousmutation (p.Glu330Lys) wasdetected in the BCKDHBgene. In silico analysis showed significant change in the 3-D protein Structure.Conclusions: This alteration probably affects the structure and function of the E1 subunit of BCKD complex.

Introduction: Multiple cerebral cavernous angiomas (CCA) have genetic origin. They are uncommon entity and rarely occurring with psychiatric manifestations.Case Presentation: A 28- year-old man presented with delusional disorder some months after diagnosis of CCA for which a neurosurgical intervention had been performed. According to clinical and neuroimaging findings, we discuss the possible correlation of CCA with psychotic symptoms of this patient.Conclusions: Possibly, abnormal brain development secondary to a genetic abnormality or peri-natal insult predisposed patient to two different neuropsychiatric conditions.

Introduction: The aim of this case series study was to determine whether the lower starting doses of prophylactic antimigraine drugs are as effective as the recommended standard regimen when used in combination without increment.Methods: In this retrospective case series study, we reported old charts of previously visited patients with migraine headache who needed prophylaxis in Shiraz, south of Iran. All medications used in these patients were started as combination of two drugs with the lower doses than mentioned in the literature. Descriptive statistics were used for data analysis.Results: Three patients (7.5%) did not respond to medications and 7 (18.75%) showed a very good response (more than 70% recovery in pain severity). Overall, 29 patients (72%) responded with at least 50% recovery after treatment.Conclusions: Our results showed lower doses of migraine prophylactic drugs can be effective with the least side effects and the most tolerance for patients. This case series report can be useful in designing further studies; however, no causal inferences should be made from it regarding the efficacy of the investigated treatment.

Background: Pregnant women of extremes of reproductive age group at both ends (<20 years and>35 years age) comprise high risk groups. Pregnant women up to 35 years get many complications like diabetes, spontaneous abortion, hypertensive disorders, autosomal trisomies, increased newborn and maternal morbidity and mortality and cesarean sections. Pregnancies of<18 years age group is complicated by anemia, preterm labor, urinary tract infections, pre-eclampsia, and a high rate of cesarean sections, preterm birth, low birth weight and growth retardation of the newborns.Objectives: Incidence of various antenatal complications, pregnancy outcome and mode of delivery in<20 years age group and> 35 year age group and to compare both the groups.Methods: This retrospective study was done at department of obstetrics and gynaecology, Chatrapati Shahuji Maharaj Medical University, Lucknow, from January 2010 to December 2010. Data were collected from institutional logbook and various complications and outcome were studied. Statistical analyses were carried out by using the statistical package for SPSS-15.Results: Present study showed that the definite increased risk of preeclampsia, eclampsia, obstetric cholestasis, twin gestation, anemia, preterm labor, premature rupture of membranes, intrauterine fetal growth restriction, and intrauterine fetal death in adolescent pregnancies and increased risk of eclampsia, diabetes, and cesarean sections in advanced age pregnancies.Conclusions: Both adolescent and advanced age groups are high risk pregnancy groups so for best reproductive outcome, pregnancies at these ages should be very carefully supervised with both good maternal and fetal surveillance to achieve best maternal and fetal results.

Background: Hearing loss is one of the most common sensory disorders, which can be syndromic and non-syndromic. So far, 61 genes and more than 100 genetic loci have been identified in ARNSHL.Materials and Methods: In this case report study, in order to verify the ARNSHL in a patient with several clinical symptoms and study the variations of the MYO15A gene for the first time in Southwest Iran, the MYO15A gene was entirely sequenced. Coding exons analysis of MYO15A gene was performed by exon direct sequencing.Results: A novel homozygous missense mutation, c.9698T>G in exon 59 of the MYO15A gene was founded by Molecular genetic testing in the patient.Conclusions: This novel mutation results in substituting a Leusin for an Arginin (p.L3233A). It seems that this change is predicted to affect the function of the myosin XVa protein negatively, maybe by disturbing its interaction with whirlin.

Background: Modern societies tend to use herbs or traditional medicine because of fewer side effects than synthetic drugs. Elaeagnus angustifoliais a plant with many therapeutic effects.Objectives: This study aimed to investigate the effect of aqueous extract of Elaeagnus angustifolia on fetal mice retina in Balb/C by evaluating of histomophometrical and immunohistochemical parameters in the eye mouse embryos Methods: In this experimental study, thirty pregnant mice were randomly divided into two groups. Control group received food and drinking water, and the experimental group received food and the aqueous extract at a dose of 500 mg/kg in the form of water solution from the day zero of pregnancy up to the 18th day. Pregnant mice were killed and their fetuses were taken, fixed and stained with hematoxylin-eosin. Histomorphometrical and immunohistochemical changes of retin examined.Results: The mean of Crown-Rump length and weight of fetuses significantly increased in experimental group compared to control group. In experimental group, a significant decrease was shown in the mean of diameters and weight of placenta compared to control group. Retinal thickness in posterior, superior and inferior part significantly reduced in experimental group compared to control group. however, retinal thickness in anterior part in experimental group was not differentwhencompared to control group.The number of Ki-67-positive cells showed that the retinal cells proliferation in experimental group decreased compared to control group.Conclusions: The use of aqueous extract of Elaeagnus angustifolia at dose of 500 mg/kg to pregnant mice caused the growth and histological changes on fetal mouse and in the retinal mouse development.

Background: Uterine myoma is a common benign, solid tumor in women with reproductive age. Thrombosis factors play a major role in tumor formation and also tumors induce thrombotic processes. Factor V (FV) and factor 13A1 (F13A1) are two thrombotic factors, which their dysfunctions affect the clot formation. FV Leiden, a common mutation in F5 gene, and V34L mutation in F13A1 gene are known to affect the risk of thrombosis. The purpose of the present study was to determine the possible association of FV Leiden and F13A1 Valine to Leucine at codon 34 (Val34Leu) mutations with the risk of developing uterine myoma in the women from south of Iran.Methods: In this case-control study, FV Leiden and V34L mutations were genotyped in 73myomapatients and 73 healthy subjects using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The data were analyzed by logistic regression, 2 test and SPSS software version 16.0.Results: Regarding the results, only F13A1 V34L mutation was associated with myoma. The Val allele showed the protective role on myoma among the studied population (OR: 0.49, 95% CI: 0.24 - 1, P=0.05). In addition, we found that individuals with F13A1 V/V (OR: 0.09, 95% CI: 0.005 - 1.8, P=0.04) and V/L (OR: 0.1, 95% CI: 0.006 - 1.98, P=0.042) genotypes had a significantly lower risk of myoma tumor compared with the other genotype (L/L). Moreover, there was no association between V34L mutation and myoma after adjusting the data for the factor age (P>0.05).Conclusions: Our results introduce the F13A1 V34L mutation as an age-related risk factor for myoma.

Background: Harpagophytum procumbens is a traditional herbal plant belonging to the Pedaliaceae family. This herb is used to treat a wide range of disorders including rheumatism, arthritis, inflammations, gastrointestinal disturbances, hepatic diseases, and anemia. Side effects of this medicinal plant are unknown during pregnancy period.Objectives: Therefore, the objective of the present research was to evaluate the teratogenic effects and congenital malformation resulting from usingHarpagophytum procumbens ethanolic extract in pregnant Balb/C mice.Methods: In this experimental study, female mice (N=40) which had successful mating were kept in standard conditions. Then the ethanolic extract of the plant (200, 400, 600 mg/kg) was given to the treatment groups by gastric gavage route on 0 - 14th days of gestation.Female mice were euthanized on 18th gestation day and each fetus was removed and examined for external malformations.Histopathological studies were done for all fetuses and mice. Statistical analysis was performed using one-way analysis of variance for all groups. The data were analyzed by SPSS version 18 software.Results: Our results showed administration of Harpagophytum procumbens extract to pregnant mice in dose 600 mg/kg could induce necrosis in liver, kidney and lung of fetuses and pregnant mice but there were no significant structural malformations and abnormalities in body weight and crown-rump length of treated embryos in gross evaluation (P<0.05).Conclusions: It seems that administration of Harpagophytum procumbens extract to pregnant mice may cause teratogenic effects and histopathological changes in fetal tissues. Therefore, the use of this herbal medicine should be restricted during pregnancy.

Background: Myoma is one of the most common benign tumor in the women’s genital tract and causing some implications such as miscarriages, anemia or even infertility. Since tumorigenesis is associated with a hypercoagulant state, we investigate the role of coagulation related variations in methylene-tetra hydrofolate reductase (MTHFR) and endothelial protein C receptor (EPCR) genes in patients with uterine myoma.Methods: In this case- control study, genotyping was performed for rs867186, rs1801131 and rs1801133 by amplification-refractory mutation system- polymerase chain reaction (ARMS-PCR) method in 73 patients withmyoma and 73 healthy women. Data was analyzed by logistic regression and2 test through software SPSS 16.Results: A statistically significant difference was observed between patients and the control group regarding the frequency of allele C in the MTHFR (A1298C) gene (P=0.01). The frequency of the genotypes carries at least one C allele (CC+AC) is higher in patients (13.7%) compared to controls (2.7%). This means the C allele increases the risk of the disease (P=0.01). Although the frequency of the T allele in patients was higher than controls, no significant relationship was observed between it and the risk of the disease. Our studied population was completely homogeneous for allele A at EPCR locus.Conclusions: In conclusion, results revealed a significant association between A1298T variation and myoma incidence, but more research is needed to verify the role of this mutation as a genetic marker in uterine myoma.