Saudi Medical Journal最新文献

Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation.

Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing.

Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study.

Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

Objectives: To investigate epidemiological changes in respiratory fungal infections (RFI), including fungal isolation and colonization, at one of the main centers in Medina. The incidence of RFI is rising due to an increase in the number of immunocompromised individuals, a higher prevalence of respiratory viral infections, and an aging population.

Methods: A retrospective cross-sectional study was conducted by extracting data of patients with fungal-positive respiratory cultures from King Fahad Hospital (KFH), Al Madinah Al Munawwarah from 2013 to 2023.

Results: A total of 352 episodes of fungal-positive cultures were identified in 79 patients, reflecting a 12-fold increase in RFI prevalence. The most frequent fungus was Candida albicans 43% (n=150), followed by C. tropicalis at 34% (n=119), C. glabrata at 7% (n=25), C. parapsilosis at 5% (n=18), C. dubliniensis at 3.4% (n=12), and Aspergillus fumigatus at 3.4% (n=12). Bronchoalveolar lavage was performed 52 times, with 19 cultures growing C. albicans and 8 cultures positive for A. fumigatus. None of the 58 lung biopsy samples grew mold. Only one patient had 2 C. glabrata isolates resistant to voriconazole and fluconazole. The most prevalent comorbidities were respiratory diseases (30%) and lower limb injuries and diabetes (16%).

Conclusion: Candida albicans was the leading cause of RFI. Continuous monitoring, improved diagnostics, and targeted interventions are crucial to address existing challenges and emerging threats. The growing recognition of fungal infections necessitates increased research and education for healthcare professionals.

Objectives: To examine the relationship between neutrophil-to-lymphocyte ratio (NLR), platelets-to-lymphocyte ratio (PLR), and red cell distribution width (RDW) and the length of hospital stay (LOS) in children with bronchial asthma METHODS: This hospital-based study examined the records of children with asthma admitted to Jazan Hospitals, Jazan, Kingdom of Saudi Arabia. Data were extracted at the time of admission. Length of hospital stay and laboratory parameters were acquired from blood.

Results: This study involved 489 children, with a mean age of 5.8±3.5 years, of which 59.7% were male. Notably, 77.7% of the patients resided in rural areas of Jazan. The mean LOS was 3.38±0.35 days, with 2.9% having a short stay (<24 hours) and 64.2% categorized as having a medium stay (1-3 days). The mean NLR was 5.33±1.20, with 46.8% falling within the normal range. Similarly, the mean PLR was 184.84±16.55, with 42.7% classified as normal. The PLR and LOS were shown to be significantly correlated (p=0.021), while no such association existed for NLR or RDW with LOS. Among the blood biomarkers assessed, PLR demonstrated the highest predictive value for LOS in children with asthma, yielding an area under the curve of 0.664 (confidence interval: 0.606-0.723; p=0.000).

Conclusion: The findings showed no significant association between NLR and RDW with LOS. Conversely, a notable correlation was observed between PLR and LOS, suggesting that PLR may serve as a valuable predictive marker for LOS in pediatric patients with asthma.

Objectives: To evaluate the concordance between the triglyceride glucose (TyG) index and the homeostatic model assessment of insulin resistance (HOMA-IR) in assessing insulin resistance (IR) in people living with HIV (PLWH). Additionally, we aimed to estimate a cut-off value for the TyG index in PLWH.

Methods: This retrospective, observational study included medical records of patients diagnosed with HIV at Sakarya Training and Research Hospital from January 2019 to January 2024. Based on their HOMA-IR levels, PLWH patients were divided into 2 groups: Group A (patients without IR) and Group B (patients with IR).

Results: In this study, insulin resistance was investigated in 147 people living with HIV (PLWH) between the ages of 18-68. Our results showed a significant positive linear relationship between HOMA-IR and the TyG index (r=0.628, p<0.001). We found the TyG Index cut-off value to predict IR in people living with HIV (PLWH) to be 8.25.

Conclusion: Our study identified correlation between the TyG index and HOMA IR index in PLWH. The TyG index may serve as an effective alternative to HOMA-IR for evaluating insulin resistance in PLWH.".

Objectives: To characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah.

Methods: We screened 97 infertile men from Al Madinah Al Munawarah, from February 2022 to March 2024. Genomic blood DNA was analyzed for 8 sequence tagged site (STS) markers of Y chromosome by multiplex polymerase chain reaction.

Results: We found microdeletions in 3 infertile men, indicating a prevalence of 3.1%. The STS markers sY254 and sY255 corresponding to AZFc regions were deleted in these men. No deletion was observed in any other STS markers investigated in this study.

Conclusion: Our findings for prevalence in Arab population of Al Madinah Al Munawarah is comparable to other studies from Saudi Arabia. However, large variance in the prevalence of YCM in the Arab population of other Middle Eastern countries is reportedly observed. The YCM has significant prognostic value, since it indicates the spermatogenic profile, the success probability of assisted reproduction technique (ART) procedures as testicular sperm extraction and apprise of potential risk of vertical transmission of microdeletion from father to son in patients opting for ART. With these considerations, we re-emphasize the need for genetic screening of YCM in azoo- and oligozoospermic infertile men.

Objectives: To assess the clinical course and long-term outcomes of complicated and uncomplicated AM in Saudi Arabia. Acute myocarditis (AM) can have different presentations and outcomes based on different factors, one of which is left ventricular ejection fraction (LVEF).

Methods: Data from 382 patients with suspected AM, admitted between January 2016 and October 2023, were reviewed. Clinical course, in-hospital complications, and all-cause mortality were evaluated in both the acute and follow-up phases. Outcomes were compared between 2 groups: LVEF <50% (n=43); and normal LVEF (≥50% [n=41]) at presentation.

Results: Data from 84 patients (mean [±SD] age, 33.5±10.2 years; 26.2% female) who fulfilled the inclusion criteria were analyzed. The most common symptom was chest pain (83.3%) and 11 (13.1%) patients had fulminant presentation. ST-T changes were found on electrocardiography in 45.2% of patients. The mean LVEF was 46±12.4% at presentation. Patients in the LVEF <50% group were significantly more likely to experience a first-time cardiac-related adverse event (CRAE) (hazard ratio 2.6 [95% confidence interval 1.1-6.2]; p=0.031) with a mean time of 38.8±3.8. The all-cause in-hospital and follow-up mortality rates in the LVEF <50% group were 4.7% (one-half cardiac-related) (p=0.494) and 4.7% (all cardiac-related) (p=0.494), respectively.

Conclusion: Of 84 patients diagnosed with AM, those with LVEF <50% were more likely to experience first-time CRAEs and exhibited low short- and long-term mortality rates.

Objectives: To determine body shape concerns (BSCs), sexual satisfaction, and associated factors in patients with polycystic ovarian syndrome (PCOS).

Methods: Using a structured and validated questionnaire, a cross-sectional survey was carried out at the Maternity and Children's Hospital in Makkah, Saudi Arabia. Data were collected between August 2023 and June 2024. We included adult patients with PCOS who had completed at least one follow-up visit. We used multivariate analysis to determine the factors associated with BSC and sexual function. Spearman's correlation analysis was executed to assess the correlation concerning these 2 aspects.

Results: Of the 432 patients studied, nearly half (50.9%) had some degree of BSC and sexual dysfunction (50.5%). Body shape concern exhibited a significant association with age (p=0.001), education (p=0.017), occupation (p=0.005), and follow-up status (p=0.005). Sexual function and satisfaction were significantly associated with education (p=0.001), body mass index (p=0.001), and the existence of other comorbidities (p=0.011). Additionally, the study revealed a negative relationship between sexual function assessment and BSC (Spearman's rho= -0.567; p=0.001).

Conclusion: This study encourages healthcare providers to proactively query sexual apprehension among these patients. These findings may guide health caregivers, policymakers, and scholars in developing measures to improve the quality of life of women with PCOS.