Journal of Sciences, Islamic Republic of Iran
Volume:34 Issue: 1, Winter 2023

5 α-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation (DSD) in 46, XY persons.  A 2 years old female with ambiguous genitalia was referred to Genetic Foundation of Khorasan Razavi (GFKR), IRAN. Her secondary sex characteristics, level of sex hormones, the development of reproductive system and karyotype were assessed. Whole-exome sequencing (WES) was preformed to find the pathogenic genetic variations associated with ambiguous genitalia. Also, Sanger sequencing was used to verify the WES results in the patient. Segregation analysis was performed to confirm mutation in the parents and other relatives. Physical examination and ultrasonography data demonstrated that the patient have testis in the left labium majus and right groin but does not have a uterus or ovaries. Sex hormone examination revealed that hormone therapy was successful and the level of FSH, LH, testosterone, and dihydrotestostron (DHT) was 2.8 mlu/ml, 2.4 mlu/ml, 15ng/dl, 21pg/ml, respectively. Cytogenetic study showed 46XY compatible to normal male karyotype. According to WES result and Sanger sequencing a homozygote loss of function mutation (c.16C>T; p.Gln6Ter) in SRD5A2 has been detected. Segregation analysis confirmed the mutation in the family. Homozygote mutation in SRD5A2 is the main cause of disorders of sex development in this family.

Alzheimer's disease is the most common cause of dementia in the elderly. One of the polymorphisms in Alzheimer's disease is rs7920721 in the ECHDC3 gene, which has not been studied in the population of Iranian Alzheimer's patients and was evaluated in the present study. In 2021, 100 patients with Alzheimer's disease and 100 healthy controls performed the current case-control analysis. Following blood sampling and DNA extraction, rs7920721 polymorphism was examined using Tetra ARMS PCR. The frequency of AA, AG and GG genotypes in rs7920721 in the control group was 89, 10, and 1%, respectively; in people with Alzheimer's disease, they were 73, 23, and 4%, respectively (P = 0.014). The frequency of A and G alleles in the control group was 94% and 6%, respectively, and in people with Alzheimer's disease, they were 84.5% and 15.5%, respectively (P = 0.046). The value (OR = 2.874) (CI 95% = 1.43-5.77) indicated an increased probability of disease in the presence of polymorphism. Both the case and control populations were also in the Hardy-Weinberg equilibrium. The results of the present study showed that the presence of the G allele in rs7920721 of the ECHDC3 gene could be associated with an increased risk of Alzheimer's disease in the Iranian population. As a result, this polymorphism can be introduced as a potential biomarker for Alzheimer's disease.

Ensuring about the cleanliness of the product line is a major approach on famous pharmaceutical companies. The aim of this study is validation of in-tube SPME (IT-SPME) method coupled with HPLC-UV for microextraction and determination of tamsulosin hydrochloride (TAM) residue from swab samples of pharmaceutical production lines. The inner surface of stainless steel tube which is proposed as device for TAM extraction was coated by Polypyrrole (PPY) via chemical polymerization reaction. After five cycles of polymerization, the tube was coated with acceptable stability that can overcome five extractions. Three practical parameters such the effect of pH, ionic strength and extraction cycle were optimized. The maximum extraction yield was achieved when no salt added, pH was adjusted at 8 and extraction cycle was chosen at 11 times. Then a mixture of sodium perchlorate buffer (pH=2) and acetonitrile (35:65) was utilized as desorption solvent. Linear dynamic range (LDR), limit of detection (LOD) and relative standard deviation (RSD) of proposed method were calculated between 5-2500 ng mL-1, 1.62 ng mL-1 and 1.23%, respectively. Moreover, the proposed method was compared with standard method of TAM residue determination from swab samples of pharmaceutical production lines. The results revealed that the proposed method can be utilized as an acceptable method for isolation and determination of TAM from swabbing samples.

Single crystals of a new coordination polymer, {[Zn(2,2’-bipyridine)(H2O)2(1,5-NDS)].2H2O}, where 1,5-NDS is 1,5-naphthalenedisulfonate ion, have been successfully grown under hydrothermal conditions. The as-synthesised coordination polymer was characterised by X-ray Diffraction analysis which shows that the metal centres have been linked by 1,5-NDS linkers and then the structure has extended in a 1D chain. Moreover, the compound was studied using thermogravimetric analysis (TGA) to check its thermal stability and IR spectroscopy.  The prepared compound was a good candidate as a precursor to prepare ZnO nanoparticles. ZnO nanoparticles which were achieved after calcinating the compound, were characterized by Scanning Electron Microscopy (SEM) and PXRD.

Many survival data analyses aim to assess the effect of different risk factors on survival time‎. ‎In some studies‎, ‎the survival times are correlated‎, ‎and the dependence between survival times is related to their spatial locations‎. ‎Identifying and considering the dependence structure of data is essential in survival modeling‎. ‎The copula functions are helpful tools for incorporating data dependencies‎. ‎So‎, ‎one may use these functions for modelling spatial survival data‎. ‎This paper presents a model for spatial survival data by the Gumbel-Hougaard copula function‎. ‎A two-stage estimator using a composite likelihood function is used to estimate regression and dependence parameters‎. ‎A simulation study investigates the performance of the model‎. ‎Finally‎, ‎the proposed model is applied to model a set of COVID-19 data.

This paper is concerned with the problem of statistical hypotheses testing in circular data under weighted sampling. The most powerful test has been obtained when the sampling is subjected to a weight function. Different weight functions are examined for the von Misses distribution. For the same weight function, the critical values and the power of the test can be calculated analytically, and for some, we need to use a numerical method. The simulation study shows that the power of the test increased as the weighted circular distribution is considered in replace of the original circular distribution and the sample data increased. A real-data example has been carried out to show the performance of our method.