Screening of IL-22 first and second introns and FOXP3 second exon for SNPs and mutations with potential role in the susceptibility of SLE in selected population.

OBJECTIVE: The main objective of performing this study was the mutational analysis of Forkhead box family member (FoxP3) and Interleukin-22 (IL-22) genes and their associations with systemic lupus erythematosus (SLE). MATERIALS AND METHODS: A total of sixty blood samples were collected from SLE patients from different hospitals in Lahore. Proforma was based on American College of Rheumatology (ACR) criteria. The total time for this research was one year (2018-2019). DNA was extracted, and FoxP3 and IL-22 genes were polymerized through PCR and further sequenced through the Sanger Sequencing method. Chromas version 2.6.6 was used for the similarity index of sequences. NG_060763 and NG_007392.1 were used as Reference Sequences of IL-22 and FoxP3 genes, respectively. RESULTS: Three already identified Single Nucleotide Polymorphisms (SNPs) in the IL-22 gene i.e., rs2227491, rs2227485, and rs2227513, were confirmed in the sequencing results of SLE patients. Results showed that there were nine novel mutations (27.27%) in the case of the IL-22 gene in the studied genotyped samples. These SNPs had remarkably increased allele T frequency in rs2227485 and allele C frequency in rs2227491 and rs2227513. On the other hand, in the case of FoxP3 gene exon 2, there was an addition of T at position 10 in the intronic portion, thus not involved in the progression of the disease. CONCLUSIONS: The importance of cytokine-mediated signaling pathways, such as the IL-22 gene, is thus established. Novel variants in the IL-22 gene likely contributed significantly to the development of this autoimmune disorder. The current study found that the dysregulation of the inflammatory markers in SLE is not related to the FoxP3 gene, even though FoxP3 is implicated in the tolerance process.

Psychiatric Illnesses, Somatic Complaints, and Treatments in a Tertiary Care Hospital in Khyber Pakhtunkhwa, Pakistan: A Cross-Sectional Study.

BACKGROUND: Psychiatric disorders differ in frequency and symptoms based on the cultural and ethnic background of patients. This can make diagnosing and treating patients challenging globally. In Pakistan, most psychiatric patients report multiple somatic complaints. Our goal was to investigate the causes of these complaints, identify common psychiatric conditions, and analyze their various manifestations in clinical practice. We also aimed to identify ways to improve the quality of care provided to our patients. METHODOLOGY: We collected and organized data by utilizing predetermined tables from a sample of 231 patients who visited the outpatient clinics. Inpatients were not included in this study because of the absence of a psychiatric unit at our facility. Patients' past medical and psychiatric records were thoroughly examined, and pertinent information was extracted. The most common psychiatric disorders within the studied population were diagnosed based on the International Classification of Diseases, Tenth Revision (ICD-10) diagnostic criteria. RESULTS: In this study, a sample size of 231 was examined to determine the most common diseases (ICD-10) in males and females. In males, the most prevalent diseases were mixed anxiety and depression (MAD), depression, generalized anxiety disorder (GAD), bipolar affective disorder (BPAD), social phobia, and obsessive-compulsive disorder (OCD). Females, on the other hand, presented more with depression, GAD, mixed anxiety and depression, conversion or dissociative disorder, OCD, and panic attacks. Headaches were the most frequently reported symptom, experienced by 61.9% the of participants, followed by lethargy, extremity pains, palpitations, loss of appetite, heartburn or acidity, heaviness on the head, shoulder pains, bloating, dizziness, chest pains, hot flashes or shivering, and constipation. Meanwhile, a quarter of the males did not complain of any somatic symptoms, compared to 10% of the females. Additionally, 7.3% of females reported more than six somatic symptoms, compared to 5.7% of males. When it came to treatment preferences, 73.6% of the participants preferred medication over psychotherapy and over a combination of both. The Statistical Product and Service Solutions (SPSS) Statistics version 22 (IBM SPSS Statistics, Armonk, NY, USA) was used to conduct a chi-square test of independence to analyze the obtained data. For post hoc analysis of quantitative data (i.e., the number of somatic symptoms reported by participants), one-way analysis of variance (ANOVA) was applied, followed by Tukey's honestly significant difference (HSD) test. CONCLUSIONS: This is the first comprehensive study of its kind for this population and region. It emphasizes that clinicians should be aware of the variety of somatic symptoms and psychiatric presentations among this population. Such awareness can improve clinical practices and reduce the burden on health services.