Libyan Journal of Medicine最新文献

Sperm motility, a key determinant of male fertility, is often impaired by genetic variations affecting flagellar formation. The glutamine-rich protein 2 (QRICH2) gene encodes a protein essential for sperm flagella biogenesis and structural integrity. This study investigates genetic variations within exon 3 of the QRICH2 gene, identifying novel heterozygous variants associated with sperm tail-specific abnormalities and motility impairments. Among 34 individuals diagnosed with asthenozoospermia (ASZ) and 26 individuals with normal sperm parameters (NZ) from Jordan, eight unique heterozygous variants (c.123 G>T, c.133 G>C, c.138A>G, c.170A>C, c.189C>G, c.190T>C, c.195A>T, and c.204A>T) were exclusive to the ASZ group, while four variants (c.136 G>A, c.145A>C, c.179T>G, and c.180T>G) were found only in NZ. These variants were absent from major genetic databases, suggesting their potential novelty, while two variants (c.206C>T and c.189C>T) were linked to known SNP cluster IDs rs73996306 and rs1567790525, respectively. Four non-synonymous SNPs (c.136 G>A, c.145A>C, c.170A>C, and c.204A>T) were predicted to be functionally and structurally damaging, underscoring their significance. Additionally, five variants overlapped with previously reported mutation sites, indicating potential mutation hotspots. Statistical analysis revealed a significant association between QRICH2 mutations and tail defects (p < 0.021). These findings highlight the critical role of heterozygous QRICH2 mutations in mild-to-moderate ASZ, even in NZ individuals. Despite some carriers meeting WHO criteria for NZ, notable morphological abnormalities suggest the need for refined diagnostic benchmarks. Screening for QRICH2 mutations is essential for accurate molecular diagnosis and should be integrated into genetic counseling, particularly in regions like Jordan. Further research into the cumulative effects of heterozygous mutations and their environmental interactions is needed to expand our understanding of idiopathic male infertility and to enhance diagnostic and therapeutic strategies for male infertility.

Osteoporosis is defined by a BMD ≤ 2.5 SD below the young adult reference population. Standard dual-energy X-ray absorptiometry (DXA) scans for osteoporosis involve the femoral neck and lumbar spine, but alternative sites like the one-third radius (1/3 R) are only used when these sites are inaccessible. This study assessed the correlation and level of agreement between BMD at the 1/3 R, femoral neck, and lumbar spine to evaluate its diagnostic utility. Data from 43,801 patients referred for DXA scans in northwest England were analysed. Of these, 437 underwent 1/3 R scans. Demographic comparisons between patients with and without forearm scans were conducted. The primary analysis included patients with scans at the 1/3 R, lumbar spine, and bilateral femoral regions;(n = 183). Spearman's correlation assessed BMD relationships, Cohen's kappa analysed osteoporosis classification agreement, and Bland-Altman plots evaluated measurement bias. The cohort had a mean age of 65.7 years (SD 12.9), with 83.3% female and 41.2% reporting fractures. Patients who underwent 1/3 R scans (n = 437) were older, heavier, and had a higher body mass index (BMI). Correlation analysis showed only moderate associations between 1/3 R and femoral/lumbar spine BMD ;(r = 0.29 to 0.36, p < 0.001). Cohen's kappa demonstrated only slight agreement for 1/3 R, femoral neck and lumbar spine T-scores (κ = 0.14-0.29). Bland-Altman analysis revealed that 1/3 R scans systematically underestimated BMD relative to femoral and lumbar sites, with mean biases of -0.7 for femoral sites and -1.53 for lumbar spine. The 1/3 R BMD showed poor agreement and systematic underestimation compared to central sites, limiting its reliability for osteoporosis diagnosis. Future research should explore alternative peripheral weight-bearing sites and novel diagnostic technologies to assess BMD where central sites cannot be scanned.

Giant cell tumor of bone (GCTB) is generally considered a benign tumor, but it can exhibit locally aggressive behavior. The two main surgical treatment options for GCTB are intralesional curettage and en-bloc resection. This study examined the long-term GCTB recurrence rates among Tunisian patients after surgery. A study including 36 patients diagnosed with GCTB was conducted. These patients underwent surgical procedures, specifically intralesional curettage and in bloc resection. Subsequently, we monitored these patients for a two-year post-operative period. Statistical analyses, including Kaplan-Meier survival analysis, Cox proportional hazards regression, and chi-square tests, were performed to identify and evaluate factors associated with local recurrence. Our analysis showed a significant association between surgical treatment and the occurrence of local recurrence (p < 0.01). Interestingly, the rate of local recurrence was notably higher among patients who underwent intralesional curettage (13 out of 21; 61%) compared to those who received en bloc resection (2 out of 15; 13%) (all p < 0.01). En-bloc resection is a reliable treatment choice for GCTB, demonstrating a lower risk of recurrence compared to intralesional curettage. These findings highlight the importance of selecting the appropriate surgical approach to minimize recurrence and improve patient outcomes.

Uncontrolled COPD has been associated with reduced health-related quality of life, activity impairment, and increased use of healthcare resources. However, limited research is available on the factors associated with poor disease control in COPD patients. This study aimed to explore the factors associated with poor disease control in patients with COPD. The current cross-sectional study was conducted on patients with COPD who attended outpatient respiratory clinics at two major hospitals in Jordan. Information about disease and medication-related characteristics was collected through patient interviews and medical files. Validated instruments, including the 4-item medication adherence scale and the hospital anxiety and depression scales, were used to assess medication adherence, anxiety, and depression among the study participants. COPD severity was assessed using the GOLD classification criteria. Ordinal regression analysis was conducted to explore the variables associated with poor COPD control. In total, 702 patients participated in the study, with a median (interquartile range) age of 68 years (58-77). According to the GOLD report, most of the participants were in the B group (low risk/high symptoms; 40.2%), followed by the D group (high risk/high symptoms; 28.2%). Older age, higher depression scores, and a higher number of prescribed medications were associated with poorer COPD control, while not receiving LAMA (long-acting muscarinic antagonists) was associated with better control. Future mental health care initiatives should address the prevalence of depression symptoms in COPD patients and manage them effectively to improve COPD control and prevent further complications, with special attention to older patients, those receiving multiple medications, and those using LAMA.

Upper gastrointestinal bleeding (UGIB) needs accurate endoscopic timing. This study investigates the debate on the necessity of upper endoscopy in UGIB, proposes predictors for adverse outcomes if urgent endoscopy is deferred, and assesses the risk to patient health or results compared to non-urgent endoscopy. A non-randomized controlled study conducted at a single center involved 200 patients with acute life-threatening UGIB. The study group comprised 100 who had an urgent endoscopy within 6 h and a control group included 100 who waited or declined the procedure within 6-24 h. Glasgow-Blatchford score was used for risk stratification of UGIB. Doppler ultrasound was applied to measure lower esophageal wall thickness. D-dimer, lactate, and procalcitonin were measured. The study group revealed recurrent bleeding after 13.5 ± 3.6 days. Death occurred in 4 (4%) which is statistically significant lower (p = 0.024) compared to the control group due to hypovolemic shock, pulmonary embolization, or aspiration pneumonia. Control group showed recurrent bleeding following 15.8 ± 4.7 days (p = 0.306). Death occurred in 14 (14%) of patients due to hypovolemic shock, disseminated intravascular coagulation, or pulmonary embolization. A shorter hospital stay (8.4 ± 3.2 days) was evident in the study group compared to the control group (16.4 ± 2.76 days, p < 0.001). D-dimer, serum lactate, and procalcitonin (Adjusted Odds Ratio (AOR) = 1.004, 2.207, 0.563, p < 0.001, <0.001, 0.011, respectively), and their corresponding values at follow-up (AOR = 0.988, 0.528, 177.04, p < 0.001, 0.011, <0.001, respectively) were significantly associated with higher mortality. Waiting time till endoscopy, baseline D-dimer (AOR = 1.794, 0.998, p < 0.001, 0.014, respectively), creatinine, procalcitonin, and esophageal wall thickness at follow-up were significantly associated with longer hospital stay. The study suggests that higher lower esophageal wall thickness and elevated serum lactate, D-dimer, and procalcitonin are novel triaging markers for early endoscopic intervention, which can improve patient outcomes, reduce blood transfusion risks, and eliminate unnecessary procedures.

Asthma is a prevalent chronic respiratory disease associated with significant morbidity and mortality globally. Effective self-management of asthma depends on adequate numeracy skills, which are essential components of health literacy (HL). Although the Asthma Numeracy Questionnaire (ANQ) has been validated among parents of asthmatic children, no previous studies have specifically validated the tool among adult patients with asthma. Therefore, this study aimed to validate the Arabic version of the Ar-ANQ among adult patients with asthma in Jordan, assess their asthma-related numeracy skills, and identify demographic and clinical factors associated with numeracy. A cross-sectional study was conducted with 398 adult patients with asthma attending the Respiratory Therapy Unit at the University of Jordan Hospital (JHU) from November 2024 to April 2025. Participants completed the Arabic Ar-ANQ and provided demographic information. The questionnaire's validity and reliability were evaluated using Confirmatory Factor Analysis (CFA) and Rasch analysis. Associations between Ar-ANQ scores and sociodemographic variables were analyzed using quantile regression. Confirmatory Factor Analysis (CFA) confirmed the unidimensional structure of the Ar-ANQ (SRMR = 0.02, CFI = 0.98, GFI = 0.99, TLI = 0.95), demonstrating high internal consistency (Cronbach's α = 0.80). Rasch analysis further supported the instrument's reliability, with acceptable infit and outfit statistics, as well as item and person separation reliability indices. Numeracy skills varied significantly among participants, influenced by education level and income, with higher Ar-ANQ scores observed among those with higher educational attainment and income levels. The Ar-ANQ is a valid and reliable instrument for evaluating numeracy skills essential for effective asthma self-management among adult asthmatic patients. Its use can facilitate targeted educational interventions and improved asthma control.

Triple-negative breast cancer (TNBC) is a molecular subtype of breast cancer characterized by the absence of estrogen and progesterone receptors and the lack of HER2 overexpression. TNBC is highly heterogeneous, complicating the identification of new therapeutic targets. However, the expression of the androgen receptor (AR) in the luminal androgen receptor (LAR TNBC) subgroup has opened the door to alternative therapeutic approaches. This study aimed to assess AR expression and correlate it with clinicopathological factors in 160 early-stage TNBC patients treated from February 2015 to February 2017. Our findings reveal that AR expression is observed in 16.87% (27/160) of ≥1% AR positivity cases. Moreover, a significant 12.5% (20/160) was found in ≥10% AR positive cases. Positive AR expression was inversely correlated with a high Ki-67 proliferation index and with the basal immunophenotype. The five-year survival rate for our cohort was 83.12%, and no significant association between AR expression and overall survival was observed (p = 0.77). The study highlights the potential role of AR expression in TNBC and its implications for therapeutic strategies, although no significant association with overall survival was found.

The Republic of Srpska (RS), as a part of the Western Balkans (WB) region, has a higher diabetes prevalence than the EU. This study aims to assess the cost-effectiveness of early treatment of high-risk patients with pre-diabetes and undiagnosed diabetes in our setting. We designed a Markov chain Monte Carlo (MCMC) model which reflects the current International Diabetes Federation (IDF) three-step plan for the prevention of T2DM in those at increased risk. The model captures the evolution of the disease in FINDRISC high-risk patients from normal glucose tolerance (NGT) to impaired fasting glucose (IFG) or impaired glucose tolerance (IGT) and then to T2DM and its complications. We developed two MCMC models, in order to follow the progression of the disease in high-risk cases, ie, when early treatment is undertaken or when it is not undertaken. The health costs and quality adjusted life years (QALY) were discounted at an annual rate of 3%. The key model parameters were varied in one-way and probabilistic sensitivity analysis. Early treatment resulted in increased life expectancy, postponement of the onset of diabetes and increased QALY for all patients. The discounted incremental cost-effectiveness-ratios (ICER) in NGT, IFG, IGT, and T2DM patients were -289.9, 9724.03, -1478.59 and 4084.67 €. In high-risk IGT patients, ICER was the most favorable, being both a cost saving and QALY gaining, with the consistent results confirmed by the sensitivity analysis. The results recommend the acceptance of a new health policy of identifying IGT patients with the use of FINDRISC questionnaire and plasma glucose measurements; providing them with a lifestyle change program; and implementing intensive diabetes treatment, as their disease progresses. Our results are especially significant for the Western Balkan countries, since this was the first cost-effectiveness study of T2DM prevention in this region.

Mpox is re-emerging globally and poses a growing public health threat, particularly in nonendemic countries such as Saudi Arabia. Given the limited national research on this topic, this study aimed to assess public perceptions, knowledge, and willingness to receive Mpox vaccination among the Saudi population. A cross-sectional online survey was conducted between March and August 2024 using a self-administered questionnaire adapted from previous studies. Participants aged 18 years and older residing in Saudi Arabia were included. Incomplete responses were excluded. Data were analyzed using Epi Info 7.2, employing descriptive statistics and Fisher's exact test to evaluate associations (p < 0.05 considered significant). A total of 2847 complete responses were received (response rate: 94.9%). Among respondents, 71.0% reported being aware of Mpox, while 47.1% had received information on how the virus spreads. Non-Saudi residents represented 61.1% of the sample. The most frequently cited information sources were social media and websites (54.2%), followed by word-of-mouth (22.3%), traditional media (18.5%), and healthcare workers (5.0%). A substantial proportion (93.2%) reported a lack of awareness regarding preventive measures, and 67.3% expressed hesitancy toward Mpox vaccination. These findings reveal significant gaps in knowledge and preparedness concerning Mpox among the population in Saudi Arabia. Strengthening public education and enhancing communication through reliable health sources are essential to improve awareness and support future vaccination efforts.