International Journal of Medical Laboratory
Volume:10 Issue: 4, Nov 2023

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.

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.

Recurrent pregnancy loss (RPL), which is also known as repeated miscarriage, affects around 2-3% of women who are trying to conceive. While some factors contributing to RPL have been identified, the cause of almost half of all cases remains unknown. Immunological factors have been proposed as one of the potential causes of such miscarriages. However, it is hard to track the common factors leading to RPL since the individual genomic identity of aborted fetuses is different in a family like other siblings. The immunological factors involved in the pathogenesis of miscarriage generally result from either the function of the maternal immune system attributable to her genomic background or the fetal origination established by both maternal and paternal genomic backgrounds that constitute the fetal genome.

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.

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.

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.

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.

Gastrointestinal infection with Salmonella serotypes, especially Typhimurium, is common worldwide. One of the important points regarding the isolation of Salmonella is its similarity with other microbial flora, which makes it difficult to isolate it. Therefore, it is very important to choose the correct separation method. This study aimed to compare the growth rate of Salmonella in different cultural environments and the effect of temperature and enrichment on it.

 24 out of 36 Ross breed broilers were infected with the bacteria to obtain stool samples containing Salmonella Typhimurium. One McFarland dilution was given to chickens for experimental infection. After the confirmation of the infection, the culture was started in days for 7 consecutive days. From 2 media enriched with Tetrathionate broth and Selenite Cysteine broth and 3 selective culture media, Xylose lysine Deoxycholate agar, Brilliant Green agar, and McConkey agar for culture were used. All cultures were examined at 2 temperatures of 37°C and 42°C in terms of growth rate. The Kappa test was used for data analysis.

The results showed no difference between tetrathionate and selenite cyane enrichment media (k=0.81). Agreement between Xylose Lysine Deoxycholate and McConkey (k=0.33), agreement between Xylose Lysine Deoxycholate and Brilliant Green (k=0.57), and agreement between Brilliant Green and McConkey (k=0.80), were obtained. The agreement between 37°C and 43°C was < 0.1.

According to the results obtained, using an Xylose Lysine Deoxycholate culture medium and incubation at 42°C are recommended to isolate Salmonella Typhimurium from fecal samples.

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.

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.

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.

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.

Some pesticide chemical compounds, such as organophosphates and carbamates, interfere with or inhibit cholinesterase activity. Employees working in pesticide factories are one of the groups at risk of pesticide poisoning. This study aimed to evaluate the effect of work on exposure to toxins on the serum level of erythrocyte cholinesterase activity.

This research was conducted on Mehriz Elixir Pesticide Factory workers. Blood samples were taken from 76 employees in 2 groups as a control group, and 38 workers were exposed to organophosphorus toxins three months after starting work in a factory. Cholinesterase activity was analyzed using the Elman method, and data were analyzed using SPSS software version 22.

The mean age of the subjects was 35.07 years, which was 35.26 in the exposure group (n = 38) and 34.89 in the control group (n = 38). The activity of acetylcholinesterase enzyme in the control group at 0, 10, and 20 minutes was 12.78 ku/l, 14.24 ku/l, and 15.45 ku/l, respectively. The acetylcholinesterase enzyme activity in the exposed group was 10.77 ku/l, 10.40 ku/l, and 10.36 ku/l at 0, 10, and 20 minutes, respectively. At all stages, the mean acetylcholinesterase activity in the control group was higher than the exposed group, but significant differences were observed at 10 and 20 minutes between the 2 groups.

Exposure of workers to organophosphate inhibits acetylcholinesterase, which manifests by a decrease in the activity of this enzyme.

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.

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.

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%). 

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.

Acrylamide (ACR) adverse effects have been expressed in various tissues. Vitamin C protects the tissue from oxidative damage. The goal of this study was to examine the protective effects of vitamin C on histopathological changes induced by ACR on rat ovaries.

In this experimental study, 28 adult female Wistar rats were used. The animals (n=7) were divided into 4 groups (1) Control group, (2) ACR (10 mg/kg) group, (3) vitamin C (200 mg/kg), (4) ACR [10 mg/kg) + vitamin C (200 mg/kg) daily for 35 days. After the last oral dose, the ovaries were removed placed in the tissue processor, and molded. To determine the volume of the ovary and the number of follicles, we used the Cavalieri principle and the physical dissector, respectively.

The results showed ACR increased the volume of the ovary (p ≤ 0.05), the volume of the medulla (p ≤ 0.01), and the decrease in the volume of the cortex (p ≤ 0.01) in comparison with the control group. These parameters were improved in the ACR + vitamin C group. The total number of primordial, primary, secondary, and graafian follicles showed a significant reduction in the ACR group compared to the other groups. The total number of follicles was increased in the ACR + vitamin C group.

Based on this study, we concluded that vitamin C can improve histopathological changes of the ovary in ACR-exposed rats.