Journal of International Medical Research最新文献

Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the DMD gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.

Methods: This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.

Results: The median patient age at treatment initiation was 8.04 years (range: 3.3-9.92), and the median duration of exposure was 3.95 years (interquartile range = 4.42 years). Five patients were still ambulatory at the last follow-up. Ataluren was more effective in individuals with baseline 6-min walking distance (6MWD) ≥300 m, as these patients had smaller declines in 6MWD and North Star Ambulatory Assessment scores. Pulmonary function was well preserved in all patients, with no patients having forced vital capacity <60% at their last follow-up. Six patients maintained normal cardiac function, whereas one patient developed heart failure before starting ataluren treatment.

Conclusions: Our results demonstrated both the efficacy and safety of ataluren. Early initiation of ataluren treatment delayed the loss of ambulation and cardiorespiratory milestones.

Objective: This study retrospectively investigated the effects of different doses of dexmedetomidine combined with propofol on postoperative delirium in older adults undergoing cardiac surgery.

Methods: The medical records of 82 older adults undergoing cardiac surgery admitted to two hospitals between August 2019 and August 2022 were analyzed. The participants were divided into two groups based on the dexmedetomidine dose: group A (0.5 µg/kg dexmedetomidine + propofol) and group B (1.0 µg/kg dexmedetomidine + propofol). The mean arterial pressure (MAP), heart rate (HR), anesthesia depth index (NTI), and incidence of postoperative delirium (POD) at 7 days after surgery were compared.

Results: MAP and HR were significantly higher in group A than in group B during extubation and 10 minutes after extubation and significantly higher than the values before anesthesia induction. At all time points post-anesthesia induction, NTI was higher in group B than in group A, and the incidence of POD within 7 days after surgery was significantly higher in group A. The Prince-Henry pain scores were higher in group A than in group B at 1, 4, 24, and 48 hours after surgery.

Conclusions: Higher dexmedetomidine doses were associated with more stable hemodynamics and stronger effects on POD in older adults undergoing cardiac surgery.

Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumor with the poorest prognosis among all types of lung cancer. Developing an effective comprehensive strategy remains a key focus. We herein present the first documented case of a 68-year-old man with limited-stage SCLC who has maintained a complete response (CR) for over 30 months to date. CR was achieved with first-line chemotherapy using etoposide and carboplatin combined with chest volumetric-modulated arc therapy. Maintenance therapy with anlotinib extended the progression-free survival to 20 months after first-line therapy. When resistance developed, second-line therapy with albumin-bound paclitaxel, carboplatin, and the immune checkpoint inhibitor durvalumab sustained CR for 7 months. Third-line therapy with etoposide and cisplatin combined with durvalumab has maintained CR to date.

Objective: Mobilization and collection of peripheral blood stem cells (PBSCs) are time-intensive and costly. Excessive apheresis sessions can cause physical discomfort for donors and increase the costs associated with collection. Therefore, it is essential to identify key predictive factors for successful harvests to minimize the need for multiple apheresis procedures.

Methods: We retrospectively analyzed 88 PBSC donations at our hospital. Mobilization involved disease-specific chemotherapy plus human recombinant granulocyte-colony-stimulating factor (G-CSF; lenograstim) or G-CSF alone for 5 days, followed by apheresis on day 5. The baseline characteristics of donors, pre-apheresis complete blood counts, and CD34+ cells were evaluated. Univariate logistic regression, the eXtreme Gradient Boosting algorithm, and multivariate logistic regression were applied to select significant predictive variables. The multivariate logistic regression results were integrated into various machine learning models to assess predictive accuracy.

Results: The percentage of pre-collection monocytes (Mono%), age, and CD34+ cell percentage (CD34+ cell%) were identified as significant independent factors that could accurately predict the success of an initial PBSC harvest.

Conclusions: We used machine learning methods to identify and validate Mono%, age, and CD34+ cell% as significant factors predictive of successful PBSC harvest on the first attempt, offering important insight to guide the clinical harvesting of PBSCs.

Objective: This study aimed to explore the potential relationship between viral infections and gastrointestinal (GI) malignancies, focusing on the presence of KRAS G12D mutations. Specifically, we investigated the association of viral agents, including human papillomavirus (HPV) and Epstein-Barr virus (EBV), with KRAS G12D mutations in GI cancers to better understand their combined role in cancer development.

Methods: This cross-sectional study comprised 92 patients diagnosed with GI cancer and 100 healthy individuals in the control group. All samples were examined to detect the KRAS G12D gene mutation and the existence of HPV and EBV using real-time polymerase chain reaction assays.

Results: HPV and EBV DNA were detected in 5.4% and 51.4% of gastric cancer samples and in 7.3% and 49.1% of colorectal cancer samples, respectively. Analysis of KRAS G12D in plasma samples revealed heterozygous mutations in 54% of patients with gastric cancer and 35% of patients with colorectal tumors. Among EBV-positive colorectal cancer samples, 1.8% were wild-type, while 47.2% exhibited heterozygous mutations. Among HPV-positive colorectal cancer patients, 1.8% exhibited wild-type KRAS, 5.4% had heterozygous mutations, and 3.2% had homozygous mutations.

Conclusion: This study detected a significant correlation between the presence of viral agents and KRAS G12D mutations.

Necrotizing fasciitis (NF) is a rapidly progressing condition with a high mortality rate. The poor prognosis is often due to delayed diagnosis, which is typically made clinically or radiologically. This case report highlights a rare instance of fulminant NF with an atypical presentation-no initial clinical signs and an unusual radiological appearance. Both the localization and microbiological findings (non-resistant Klebsiella pneumoniae) were uncommon for NF. The patient presented with no suspicious skin changes, pain, or medical history indicative of NF. A computed tomography scan revealed entrapped air, a pathognomonic sign of NF; however, the air was predominantly located in the abdomen, leading to an initial suspicion of hollow organ perforation because this is an unusual location for NF. Subsequently, NF was suspected based on the computed tomography findings combined with laboratory results. Despite prompt surgical intervention and broad-spectrum antibiotic therapy, the patient died of multi-organ failure within 16 hours. This case underscores the importance of recognizing the subtle and varied presentations of NF and using tools such as the Laboratory Risk Indicator for Necrotizing Fasciitis (LRINEC) score. Healthcare providers must maintain a high index of suspicion for NF, even when clinical, radiological, and laboratory findings seem inconspicuous.

Objective: This study aimed to analyse the causes of foetal mild-to-moderate isolated ventriculomegaly (IVM) and to evaluate the prognosis of neurological development in surviving children in different subgroups.

Methods: We retrospectively studied mild-to-moderate IVM diagnosed by prenatal ultrasound scans in different subgroups according to the laterality of IVM, the degree of IVM and foetal sex independently. The results of foetal chromosomal microarray analysis, virological tests of umbilical cord blood or amniotic fluid, foetal magnetic resonance imaging and ultrasound were collected. Long-term follow-up was performed to assess the neurodevelopment of children within 66 months through telephone interviews and/or the Ages and Stages Questionnaire-3.

Results: The moderate group showed more chromosomal abnormalities (16.2% vs. 4.1%) and greater structural anomalies in the brain (31.8% vs. 7.5%) than the mild group. Female foetuses showed more structural anomalies than male foetuses (25.0% vs. 7.2%). However, an adverse prognosis of children was not different across the different subgroups.

Conclusion: Moderate IVM may be more strongly associated with chromosomal aberrations and structural malformations than mild IVM. However, the adverse prognosis of children was similar between the different subgroups analysed.

Objective: Breastfeeding is associated with improved health outcomes in infancy and throughout adulthood as breast milk encompasses diverse immune-active factors that affect the ontogeny of the immune system in breastfed (BF) infants. Nevertheless, the impact of infant feeding on the immune system is poorly understood, and a comprehensive understanding of immune system development in human infants is lacking. In this observational study, we addressed the effects of different infant feeding approaches on cell populations and parameters in the peripheral blood of infants to gain insight into the innate and adaptive arms of the immune system.

Methods: Using flowcytometric analysis, we performed complete blood counts and immunoprofiling of peripheral blood collected from BF and formula-fed (FF) infants at different ages.

Results: Our results showed that the blood of BF infants had a higher frequency of leukocytes and erythrocytes in early infancy. The hemoglobin concentration was enhanced in BF infants. However, the platelet count was comparable regardless of feeding regimen.

Conclusions: We observed immunophenotypic differences between the two populations of infants, mirrored by improved frequency of innate and adaptive immune cells in BF infants.

Objective: This study aimed to compare the clinical characteristics and surgical and histological outcomes of premenopausal and postmenopausal patients with adnexal torsion.

Methods: The electronic medical records of 278 patients with adnexal torsion proven by surgery were retrospectively reviewed from January 2012 to November 2023 in our hospital. The patients were divided into two groups (premenopausal and postmenopausal).

Results: The study included 226 (81.3%) premenopausal patients and 52 (18.7%) postmenopausal patients. The incidence of the most common symptoms (i.e., abdominal pain, nausea and/or vomiting) was not different between the two groups. However, the postmenopausal group had a longer interval from the onset of pain to admission, a larger size of adnexal mass, a longer operation time, more blood loss, and a longer hospital stay than the premenopausal group. Regarding the procedure, the premenopausal group underwent more conservative procedures than the postmenopausal group. The most common pathological findings in the two groups were benign tumors and tubal pathology The malignancy rate was similar in the two groups.

Conclusions: Premenopausal and postmenopausal women with adnexal torsion had similar main symptoms, such as abdominal pain and nausea and vomiting. However, the surgical and histological outcomes varied between these groups of women.

Objective: This study aims to inform the prevention and treatment of Cryptococcus neoformans infections in China by analyzing the molecular epidemiology and distribution patterns of the pathogen.

Methods: A cross-sectional study was conducted involving a retrospective analysis of 64 clinical strains of Cryptococcus isolated from January 2018 to April 2023 across various domestic regions. Patient information was collected from human immunodeficiency virus-positive individuals in multiple hospitals located in 19 cities within China's southeastern coastal and southwestern regions. A VITEK MS mass spectrometer was employed for strain identification. Variants and mating types were amplified using polymerase chain reaction (PCR), while PCR multilocus sequence typing (MLST) was utilized for molecular genetic analysis of the strains. Evolutionary trees were constructed using MEGA software.

Results: The study identified a male predominance (2.37:1) among the 64 strains, with a median patient age of 38.5 years. Most strains (79.69%) were isolated from cerebrospinal fluid. All strains belonged to the Aα, VN I type, with MLST revealing three sequence types: ST5 (89.06%), ST32 (7.81%), and ST186 (3.13%).

Conclusion: From 2018 to 2023, Cryptococcus neoformans infections in China were predominantly found in middle-aged men, and the VN I genotype was the most common among the isolated strains.