Chulalongkorn Medical Journal

Impact of the rs1050757 C > T variant in the 3'UTR of the G6PD gene on mRNA structure and miRNA binding in G6PD deficiency: a nanopore MinION sequencing study

Lawrence Billy Vasco Djama — 2025-11-28

Background: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder caused by impaired enzyme function or instability due to mutations in the G6PD gene, resulting in reduced enzyme activity. This study aimed to investigate mutations within the regulatory regions of the G6PD gene using Nanopore MinION sequencing to investigate the potential effects of noncoding variants on G6PD activity.

Methods: Blood samples from 19 males (13 adults and 6 neonates) with G6PD deficiency or intermediate enzyme activity but with unidentified coding sequence mutations were analyzed. Genomic DNA was amplified using degenerate oligonucleotide-primed PCR and sequenced on the Oxford Nanopore MinION platform. Bioinformatic analyses were performed to evaluate the effects of single-nucleotide polymorphisms on G6PD mRNA structure and miRNA binding potential.

Results: The rs1050757 C > T variant in the 3' untranslated region (3' UTR) of theG6PD gene was detected in 12 individuals, including 9 individuals with intermediate G6PD activity (7 adults and 2 neonates) and 3 neonates with G6PD deficiency. Among adults, G6PD activity was comparable between carriers of the T (11.5 ± 1.3 U/g Hb, n = 7) and C (11.8 ± 0.8 U/g Hb, n = 6) alleles. However, G6PD activity was more variable in neonates, with mean values of 1.8 ± 4.0 U/g Hb for the T allele (n = 5) and 6.0 U/g Hb for the C allele (n = 1). No cases of hemolytic anemia were observed in individuals carrying the rs1050757 variant, suggesting a limited direct effect on enzyme function. Computational analyses revealed that the variant induced minor alterations in the secondary structure of the G6PD mRNA, resulting in a shift in the Gibbs free energy (ΔG) from −425.0 to −412.1 kcal/mol and the minimum free energy from−441.1 to −440.4 kcal/mol. These changes may subtly influence mRNA loop formation and miRNA binding at the hsa-miR-92b-3p site.

Conclusion: The rs1050757 variant appears to exert a limited effect on G6PD activity and clinical phenotype. Nevertheless, its potential role in modulating gene regulation through alterations in mRNA structure or miRNA interaction warrants further investigation. Improved understanding of noncoding region mutations may improve diagnostic accuracy and facilitate genotype–phenotype correlations, particularly in malariaendemic regions where G6PD deficiency screening is crucial.

Knowledge, attitude, and practice of butchers regarding Crimean-Congo hemorrhagic fever in an endemic area of Iran

Mohammad Amin Gorouhi — 2025-11-28

Background: Crimean-Congo hemorrhagic fever (CCHF) is an important zoonotic disease, particularly in endemic countries, with considerable public health implications. Previous studies in Iran suggest that CCHF poses a substantial health risk to slaughterhouse workers and butchers.

Objective: To investigate the knowledge, attitude, and practice of butchers regarding CCHF at their place of work in an endemic area in Southeastern Iran.

Methods: Data collection was performed using a convenience sampling method. The study included 60 eligible butchers from Zarand City. Data were collected using a questionnaire, and statistical analysis was performed using SPSS version 22.

Results: The average scores of the participants’ knowledge, attitude, and practice were 2.6 ± 1.5, 25.4 ± 3.2, and 21.8 ± 4.1, respectively, indicating most butchers had good knowledge of and a positive attitude toward and practice regarding CCHF safety measures. There was no significant difference between the participants’ knowledge, attitude, and practice in relation to the studied variables. However, Pearson correlations revealed significant positive correlations between knowledge and attitude (r = 0.345), between knowledge and practice (r = 0.295), and between practice and attitude (r = 0.361) with regard to CCHF disease.

Conclusion: The current study results can help prevent occupational health risks related to work-acquired CCHF among butchers. We recommend that more comprehensive studies be conducted to evaluate other occupations that are at high risk of acquiring CCHF in Iran.

Factors influencing turnover intention among registered nurses in Thailand: a preliminary study

Vachira Posai — 2025-11-28

Background: The current nursing shortage poses a major challenge for healthcare systems. Understanding the predictors of turnover intention is essential for establishing effective retention strategies. Objectives: This study examined demographic and psychological factors associated with turnover intention among nurses, focusing on burnout, emotional labor, effort–reward imbalance, practice environment, work– family conflict, and work engagement, with particular attention to age-related differences.

Methods: The study used data from 1,005 nurses at two public hospitals in Thailand. Validated instruments included the Burnout Assessment Tool, Emotional Labor Scale, Effort–Reward Imbalance Questionnaire, Practice Environment Scale of the Nursing Work Index, Utrecht Work Engagement Scale, Work–Family Conflict Scale, and Turnover Intention Scale.

Results: Younger, single, early-career, lower-income, inpatient nurses reported higher turnover intention, while having children appeared protective. Burnout, work–family conflict, effort–reward imbalance, unfavorable practice environments, and particularly low work engagement were the strongest predictors. Severe work–family conflict (odds ratio (OR) up to 15.73) and low engagement (OR up to 57.72) indicated particularly high risk. Age-stratified analyses revealed consistent effects of burnout, effort–reward imbalance, and unfavorable environments across age groups, although younger nurses were more susceptible to severe work–family conflict. Gender, education level, and emotional labor were not significant predictors.

Conclusion: Effective retention strategies should prioritize enhancing engagement, reducing burnout, supporting work–family balance, and improving practice environments. Age-specific interventions are also necessary, as younger nurses are particularly affected by work–family conflict and effort–reward challenges.

Functional outcome of surgically treated patients with moderate traumatic brain injury (GCS 9-12) under the fast-track protocol

Narongpong Lowprukmanee — 2025-11-28

Background: Traumatic brain injury (TBI) is a major cause of disability, morbidity, and mortality worldwide.

Objective: This study aimed to determine the effect of the fast-track protocol on the clinical outcome of patients with TBI.

Methods: This study evaluated the functional outcomes in surgical groups of the TBI fast-track protocol, with Glasgow coma scale (GCS) scores between 9 and 12. Data were retrospectively collected from 52 patients with TBI who were treated surgically under the fast-track protocol at Sawanpracharak Hospital, Thailand, between September 1, 2016, and February 28, 2024, and compared with 52 patients who underwent routine surgical treatment (non-fast-track). Risk factors, causes of accidents, clinical parameters, and the outcomes were analyzed, which included time from the emergency room (ER) to the operating room (OR), pneumonia, sepsis, pressure sores, tracheostomy, length of hospital stay (LOS), and the Glasgow outcome scale (GOS) score.

Results: Significant associations were observed between the fast-track and non-fast-track groups regarding time from ER to OR (P < 0.001), pneumonia (P < 0.001), sepsis (P = 0.027), pressure sores (P = 0.016), tracheostomy (P = 0.028), LOS (P < 0.001), and GOS score (P < 0.001).

Conclusion: The fast-track protocol exhibited improved clinical outcomes, including reduced complication rates, a shorter LOS, and better GOS outcomes. Therefore, timely surgical intervention within 60 minutes of ER admission is critical for optimizing patient outcomes.

Clinical characteristics and risk factors associated with acute kidney injury among patients hospitalized with primary COVID-19 infection

Monchai Siribamrungwong — 2025-11-28

Background: Coronavirus disease 19 (COVID-19) primarily affects the respiratory system with symptoms ranging from mild to severe. In addition, acute kidney injury (AKI) is an important complication of COVID-19 that causes substantially high morbidity and mortality rates. During the COVID-19 pandemic, public healthcare in Thailand experienced many cases and complications thereof.

Objective: This study aimed to establish the incidence, clinical characteristics, independent risk factors of AKI, and mortality in patients hospitalized with COVID-19 with or without AKI.

Methods: This was a retrospective; observational study performed in Lerdsin Hospital from August 2021 to August 2022. A total of 576 patients who were hospitalized with a diagnosis of COVID-19 infection were analyzed. AKI was diagnosed based on the extended Kidney Disease Global Outcomes criteria. Clinical characteristics were compared between patients with COVID-19 with or without AKI. Furthermore, independent risk factors were reported using adjusted odds ratios (aORs).

Results: One hundred and forty-five patients with COVID-19 developed AKI. The AKI group exhibited a higher proportion of male, older patients, and a higher rate of pneumonia. The independent risk factors were male gender (aOR, 1.8; 95% confidence interval (CI): 1.2–3.0), age ≥ 60 years (aOR, 2.0; 95% CI: 1.2–3.5), chronic kidney disease (aOR, 5.5; 95% CI: 2.0–14.7), coronary artery disease (aOR, 3.3; 95% CI: 1.1–9.2), pneumonia (aOR, 4.0; 95% CI: 1.5–10.5), serum potassium ≥4.5 mEq/L (aOR, 2.3; 95% CI: 1.1–5.0), and serum bicarbonate < 22 mEq/L (aOR, 2.4; 95% CI: 1.3–4.3). Patients with a history of COVID-19 vaccination exhibited a reduced incidence of AKI (aOR, 0.5; 95% CI: 0.3–0.8).

Conclusion: The identified independent risk factors offered predictive potential for the development of AKI. Administration of the COVID-19 vaccine in patients with COVID-19 potentially protected them against AKI.

Bony affair–a rare case of osseous metaplasia in a native nonfunctioning kidney

Arthi Mohanendran — 2025-11-28

Renal osseous metaplasia is a rare condition in a native kidney with end-stage renal disease, which presents mature bone with marrow elements in the background of chronic pyelonephritis. Osseous metaplasia has been reported in allograft specimens; however, the incidence thereof is extremely rare in a native kidney. Although the pathogenesis thereof is unknown, chronic ischemia and inflammation may be triggering factors. Osseous metaplasia has been previously reported in renal allograft specimens, but in this case report, we present a rare histological finding of osseous metaplasia in a native kidney.

Rare case of recurrent cystic mediastinal mass: giant pericardial cyst

Melina Rosita Tanadi — 2025-11-28

Pericardial cysts are unusual benign congenital malformations, with an incidence of 1 per 100,000 individuals. Although considered congenital lesions because of incomplete fusion during embryogenesis, there are other less frequent causes thereof, such as surgery, post-trauma, and inflammatory processes. A pericardial cyst can mimic a malignant mediastinal tumor, cardiac chamber enlargement, or a bronchogenic cyst on a chest X-ray. Most pericardial cysts are asymptomatic until they get bigger, after which they can cause symptoms such as dyspnea, sudden death, and cardiac tamponade, or the cyst may rupture. Radiological imaging plays an important role in ruling out diagnostic conditions, thereby preventing complications. Computed tomography (CT) is the modality of choice for pericardial cysts. Here, we report a case of a 59- year-old female who complained of shortness of breath and cough for 5 days before admission, accompanied by fatigue and nausea. Thoracic CT revealed there was a recurrent giant cystic mediastinal mass in the left hemithorax, and pathological anatomy was suggestive of a pericardial cyst.

Art of port wine birthmark: a case report on type 2 Sturge–Weber Syndrome

Sushmitha Sudharsan — 2025-11-28

Sturge–Weber syndrome is a phakomatosis group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions because of a mutation in the guanine nucleotide-binding protein G(q) subunit alpha gene. These lesions are often unilateral, following the course of the trigeminal nerve. Here, we present a case of a 54-year-old woman with a history of glaucoma with a unilateral reddish–purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge–Weber syndrome is complex and requires a multidisciplinary approach. In type 2 cases of Sturge–Weber syndrome, patients present with facial angiomas and glaucoma, but without neurological involvement. There is an increased risk of hemorrhage associated with Sturge–Weber syndrome, which makes it essential to carefully plan dental procedures to minimize any potential pre and postoperative bleeding risks. This case report aims to highlight the importance of recognizing similar patterns to enable prompt diagnosis.

Addressing the burden of premature birth and its prevention in developing countries: is it time to act now?

Mahaveer Singh Lakra — 2025-11-28

India accounts for approximately 3.5 million preterm births annally, representing about 25% of the global burden. Premature birth poses a substantial burden, with an especially profound impact on families and health systems in low-and middle-income countries, where access to adequate healthcare is limited. Premature birth remains a leading cause of neonatal death among children under the age of five years due to organ immaturity, sepsis, and respiratory distress syndrome. Efforts to reduce premature birth include improving access to quality prenatal care, enhancing neonatal care services, and implementing targeted public health interventions. Despite ongoing challenges, considerable progress has been made through concerted efforts by governments, international organizations, healthcare providers, and community stakeholders. Continued investment, monitoring, and innovation are crucial to further prevent preterm births and improve the outcomes. Such efforts aim to alleviate the burden on families and caregivers while strengthening already strained health systems worldwide.