Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients - identification of novel single nucleotide polymorphism: Cross-sectional study.

The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220-658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS. Three of these polymorphisms were found in the NCBI database's dbSNP (rs2853741, rs2606241, and rs2853742 SNPs), and one SNP polymorphism is novel (657334). The CTAT (657334, rs2853741, rs2606241, and rs2853742 SNPs) haplotype was significantly associated with responder with odd ratio, 95% confidence interval: 0.506, 0.281-0.912 (P value = .022). In contrast, the other haplotypes were not associated with MTX responsiveness. In the multivariate analysis, after adjusting to the effect of age, sex, smoking, and disease duration, the TCrs2853741 genotype was associated with non-responders (P value = .030). In contrast, the ACrs260641 genotype, after adjusting to the effect of age, sex, and smoking, was associated with non-responders (P value = .035). Genetic polymorphism of the TYMS gene, especially in TCrs2853741 and ACrs260641, predicts non-responder to MTX treatment in RA, while the presence of the CTAT haplotype predicts a good response to MTX treatment.

Clinical and radiological outcomes of open reduction alone versus open reduction with pelvic osteotomy for developmental dysplasia of the hip in children over 1.5 years of age.

Developmental dysplasia of the hip (DDH) is commonly addressed through surgical intervention, usually performed in a specialized tertiary care facility. The purpose of this study was to evaluate the surgical outcomes in patients with DDH who had open reduction alone or in conjunction with bone surgery at our facility. We retrospectively reviewed the medical records of patients with DDH, categorizing them into two groups: Group OR underwent open reduction (OR) alone, and group ORBO underwent OR in conjunction with femoral or pelvic osteotomies. The modified McKay classification was used to evaluate clinical outcomes, and the Severin classification was used to evaluate radiological outcomes. Avascular necrosis and other postoperative issues were observed. Our cohort consisted of 66 patients (76 hips), with a mean age at surgery of 1.8±2.6 and a follow-up period ranging from one to three years. Clinically, 48 out of 66 patients achieved satisfactory outcomes, and radiologically, 47 patients were classified as satisfactory. Although there was no statistically significant difference in the radiological outcome (P=0.85), more patients in the OR group than in the ORBO group (P=0.05) had better outcomes. Avascular necrosis (AVN) was observed in 23 hips (34.8%), with Grade I AVN being the most prevalent in 19 hips that underwent OR with bone surgery (63.2%). The occurrence of AVN was associated with poorer clinical and radiological outcomes (P=0.05). Overall, the DDH operation at our center had positive outcomes. The OR group showed better clinical outcomes despite similar radiological findings and AVN rates compared to the OR with bone surgery group. The presence of AVN was linked to poor clinical and radiological outcomes.

Factors determining postoperative and outpatient follow-up period in patients undergoing single lumbar disc herniation.

The precise evaluation of postoperative outcomes in patients with lumbar disc surgery is quite difficult since the pre-operative factors and patient responses differ. Several questionnaires assess the outcome of herniated lumbar disc surgeries. However, the clinical outcome may vary widely, indicating the significance of precise preoperative assessments to ensure better outcome prediction. Previous long-term studies suggest fewer positive outcomes in cases with prolonged preoperative history. In the present retrospective study, we aimed to assess the outcome of patients with lumbar discectomy in Iraqi patients by evaluating the surgical outcome. This research was performed in the orthopedic center of the Teaching Hospital of Adiwaniyah Province, Iraq. The study was based on retrieving hospital records of patients who were subjected to surgical intervention for lumbar disc herniation from 2018 to 2022. The sample consisted of patients with lumbar disc herniation who were subjected to discectomy at one level even in cases where both approaches were used. Age, gender, income, education level, and degree of disc involvement did not significantly correlate with the type of surgical approach (p>0.05); however, there were significant positive correlations to body mass index and duration of disease (p<0.05). Therefore, the body mass index and duration of disease are significant predictors of prolonged postoperative follow-up and hospital stay duration.

The Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.

A series of birth defects known as neural tube defects (NTDs) appear when the neural tube fails to fully or partially close during fetal development. In nations without folic acid supplementation, their incidence ranges from 0.5 to 2 per 1,000 births. The purpose of our study is to estimate the prevalence of NTDs and define the workup for newborn infants with an open neural tube in Al-Qadissiyah, Iraq. This 18-year descriptive retrospective analysis included all babies with NTD diagnoses at the Maternity and Child Teaching Hospital in Al-Qadissiyah Governorate, Iraq. Over the research period, 187 cases of NTDs were evaluated. NTDs presented a male predominance and an incidence rate of 9.4 per 1,000 births, with spina bifida (67.9%), encephalocele (24.02%), and anencephaly (8.02%) being the most prevalent defects. The typical gestational age was 36±5, whereas the typical maternal age was 30±5. It should be noted that 29.9% of women did not take folic acid supplements during the first trimester, while one-third of moms did not benefit from medical supervision during pregnancy. In 65.2% of instances, an antenatal diagnosis was made, and cesarean section was the mode of delivery in 87,8% of cases. Other than that, 64.7% of women lived in low socioeconomic conditions, and 67.9% were from rural areas. The relevance of reinforcing and maximizing folic acid measures throughout the periconceptional phase is emphasized by the fact that NTDs require high intensity and advanced care.