International Journal of Medical Laboratory

272-278

Authors: Farnoosh Naseri , Masoumeh Masoumi , Navid Rezaei , Abbas Shakoori Farahani *

Introduction: The mammalian Y chromosome is a vital sex-determining factor in mammals by encoding gonadal genes. However, there are some discordant conditions with the XY female chromosome, which can lead to their inclusion in the disorders of sex development group. Case Report: The person under study is a 22-year-old woman for whom written consent was obtained, and all ethical procedures were followed. Herein, we report an extraordinarily fertile adolescent phenotypic mother with congenital XY abnormality who reared as female, spontaneous puberty with regular menstruation and two gestations. This condition was initially diagnosed using the karyotype technique and finally confirmed with the specialized Fluorescence in-situ hybridization technique. Finally, the quantitative fluorescent polymerase chain reaction technique was used for more certainty. Usually, the male genotype cannot be fertile; since this case is unique, various reasons are involved in its occurrence. One of these cases can be a bone marrow or blood transplant, but according to the study, the possible development of this disorder can be caused by the fetal period. Conclusion: As the prior clinical history of the case report revealed that her twin brother died during her mother’s expectancies, it can be assumed that the blood supply between the two fetuses has been shared unevenly or that feto-fetal transfusion has occurred. This incident has caused her to become a chimera with XY karyotype.

306-313

Authors: Niloofar Soleymani , Mohammad Reza Rezvany * , Mahmood Shams , Akbar Dorgalaleh , Shadi Tabibian , Farhad Zaker

Background and Aims: Protein S (PS) is a vitamin K-dependent glycoprotein synthesized by endothelial and somatic cells that acts as an anticoagulant in its free form and an inhibitor of the complement system in its bound form. Deficiency of PS is a congenital thrombophilia that can have significant clinical consequences. This study aimed to report the clinical and genetic characterization of four Iranian patients with PS deficiency. Materials and Methods: In this study, we investigated the genetic basis of PS deficiency in four Iranian patients from three unrelated families, including two females and two males with a mean age of 32.5(± 25.73) years. Whole blood was collected to measure PS total antigen levels and isolated genomic DNA, which was then amplified using polymerase chain reaction to direct sequencing of the PROS1 gene with the Sanger method. Each novel variation was subjected to in silico analysis. Results: Two novel variants in the PROS1 gene were identified: c.-196 C > G in exon 1 and c.198A > C in exon 2. In this setting, both variants were present in a heterozygous state in patient C1 and a homozygous state in patient C2. In addition, a silico analysis was conducted to assess the impact of the identified variants, showing that the c.198A > C variant was likely detrimental and the c.198A > C variant was likely pathogenic. Conclusion: The results highlight the heterogeneity of PS deficiency and the need for further investigation to identify additional mutations and understand the genetic basis of this condition in the Iranian population.

322-333

Authors: Fahimeh Eshraghi Samani , Soleiman Kheiri , Ebrahim Saedi Dezak , Farhad Seif , Kobra Mokhtarian *

Background and Aims: Toxoplasma gondii (T. gondii) is one of the most dangerous parasitic infections in immunocompromised patients. It may pass through the bloodstream to various organs, such as the reproductive organs of intermediate hosts, which may lead to male infertility. Therefore, this study aimed to determine the relationship between T. gondii infection and infertility in infertile men referred to the infertility center of Chaharmahal and Bakhtiari province. Materials and Methods: In this case-control study,129 men, including 67 infertile and 62 fertile men, participated, and specific anti-Toxoplasma antibodies of IgG and IgM were detected in the serum of all cases using enzyme-linked immunosorbent assay methods. Also, the presence of T.gondii DNA in the seminal fluid samples of these people was detected using the polymerase chain reaction method. Sperm analyses, including sperm count, morphology, motility, and viscosity, were also performed on the seminal fluid. Results: Based on the result of the IgG antibody, a significant difference was found in toxoplasmosis in two fertile and infertile groups. Its frequency was 16.1% in the fertile group and 40.3% in the infertile group. Also, Toxoplasma infection showed a relationship with sperm count and sperm morphology, so its frequency was 72.7% in the low sperm group and 24.6% in the high sperm group. The results of IgM and polymerase chain reaction showed, there was no significant relationship between the fertile and infertile groups with toxoplasmosis. Conclusion: The serum prevalence of the anti-Toxoplasma antibodies and molecular detection in infertile men is higher than the control group, and it seems that Toxoplasma may be an effective risk factor for causing male infertility and disruption of sperm parameters.

340-346

Authors: Mohadeseh Kamali , Mehdi Taheri Sarvtin *

Background and Aims: Fungal spores constitute a significant portion of primary biological aerosol particles, and large amounts have been identified in the air. They are present in the atmosphere throughout the year, and their concentration varies due to meteorological factors such as temperature, relative humidity, location, construction conditions, and vegetation. Exposure to airborne fungi has been linked with diseases such as allergic respiratory symptoms, rhinitis, asthma, and various infections. This study investigates the diversity and distribution of airborne fungal spores in Jiroft City, located in the southern region of Iran. Materials and Methods: Airborne fungal composition was sampled from indoor, outdoor, and hospital air using the sedimentation plate method. Grown fungi were identified using standard mycological techniques, including determining macroscopic and microscopic characteristics. Results: A total of 230 colonies belonging to 11 genera of fungi were isolated from all culture media. Fungi were isolated from 53 (80.3%) samples. The highest and lowest percent of positive samples were found in outdoor (100%) and hospital (64.3%) air samples, respectively. Cladosporium (43.9%) and Aspergillus (36.4%) were the most common fungi isolated from the samples. Rhodotorula, Syncephalastrum, Paecilomyces, Mucor, and Acremonium were the least isolated fungi (1.5%). Conclusion: This study showed the difference in the diversity and distribution of fungi in different environments. Cladosporium and Aspergillus were the most common fungi isolated, which need to be considered due to their ability to cause various diseases.