Journal of Medicine and Life最新文献

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern. It has been shown that both forms of dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene. In this study, we investigated a consanguineous four-generation family with two individuals displaying the RDEB phenotype. Both patients showed multiple skin erosions, atrophic scares, crusted scaling, and pseudosyndactyly. Whole exome sequencing (WES) was performed to identify the underlying genetic defect, revealing a homozygous nonsense mutation, c.409C>T (p.Arg137*) in COL7A1 in both patients. This variant was validated through Sanger sequencing and confirmed to segregate within the family. This report describes a recurrent nonsense mutation in COL7A1 that leads to a severe form of autosomal recessive dystrophic epidermolysis bullosa. Moreover, this study demonstrates that whole exome sequencing analysis is imperative in resolving clinically and genetically heterogeneous diseases like RDEB. Furthermore, this study expands the mutation spectrum of the COL7A1 gene in distinct populations.

It is unclear whether fever suppression in the elderly provides long-term benefits or poses risks due to their distinct immune profiles and body temperature regulation compared to younger individuals. This study aimed to assess the long-term health effects of antipyretic treatment during infections in the elderly. A systematic review was conducted, including studies that compared antipyretic treatment with other drugs, therapies, placebo, or no treatment. PubMed, Embase and Cochrane CENTRAL databases were searched. Primary and secondary outcomes were the onset or worsening of chronic inflammatory diseases, fever reduction, length of hospital stay, patient satisfaction, mortality, laboratory indicators of morbidity, and progression to complications, respectively. Out of 11,481 studies screened, 17 were included (two randomized controlled trials [RCTs], seven observational studies, one case series, and seven case reports). None investigated the primary outcome or patient-reported outcomes. The risk of bias in the included studies ranged from unclear to high. Due to the heterogeneity of the studies, a narrative synthesis was conducted, as meta-analysis was not feasible. Antipyretics showed a significant reduction of fever in RCTs. Five studies reported a significant drop in blood pressure, and one showed significant mortality from antipyretics. Morbidity indicators and length of stay were available only in the studies that reported adverse events. The certainty of evidence, assessed using GRADE, was low to very low for all outcomes. Evidence regarding the long-term benefit or harm from fever suppression with antipyretics during infections in the elderly is insufficient.

Akkermansia muciniphila (AM), one of the many microbial species residing in the human gut, has been particularly highlighted for its potential beneficial impacts on host metabolism and gut barrier function. This study evaluated the association between AM concentration and metabolic markers among patients diagnosed with metabolic dysfunction-associated steatotic liver disease (MASL). The study included a cohort of 122 patients with MASLD, monitored between January 1 and June 30, 2024, at the Venus Vascular Center in Oradea, Romania. Enterotype 2 was predominant in the study population, accounting for over 60% of participants. Correlation analysis revealed no statistically significant association between alanine aminotransferase (ALT) or aspartate aminotransferase (AST) levels and AM concentration (ALT: r = -0.147, P = 0.105; AST: r = -0.090, P = 0.325). However, a significant negative linear correlation was determined between gamma-glutamyl transferase (GGT) values and AM concentrations (r = -0.314, P < 0.001) and a moderate, positive correlation between high-density lipoprotein (HDL) values and AM concentration (r = 0.307, P < 0.001). Glycemia showed a weak negative correlation with AM concentration (r = -0.262, P = 0.003). The improvement of liver markers (AST, ALT), even in the absence of correlation with AM concentration, and the negative correlation of GGT, a marker for hepatobiliary diseases and metabolic syndrome, suggest the reduction of oxidative stress in MASLD.

Impostor syndrome is prevalent among undergraduate nursing and medical students. Resilience is the ability to adapt and rebound from challenges, which is crucial for student well-being and academic success. Exploring the connection between impostor syndrome and resilience is essential to support students effectively. This cross-sectional study investigated the relationship between resilience and impostor syndrome among undergraduate nursing and medical students at King Saud Bin Abdulaziz University for Health Sciences. A total of 300 students were recruited using a convenience sample and completed self-reported questionnaires assessing resilience and impostor syndrome between September 2022 and March 2023. Various bias mitigation strategies were employed to ensure data accuracy and reliability, such as anonymous data collection and validated scales. The results indicated that less than half of the participants experienced impostor syndrome. Among nursing students, 41.7% were classified as severe, 37.7% as moderate, and 13.0% as intense impostors. For medical students, 4.6% were mild, 4.6% moderate, 4.5% severe, and 4.5% intense impostors. Mean resilience scores were 24.3 ± 7.15 for nursing students and 25.6 ± 7.22 for medical students. A significant negative correlation was found between resilience and impostor syndrome scores (r = -0.220, P < .001). Regression analysis indicated that resilience significantly predicted impostor syndrome, with higher resilience associated with lower levels of impostor syndrome. These findings highlight the importance of resilience in mitigating impostor syndrome among nursing and medical students. Building resilience through interventions may be beneficial in promoting student well-being and academic success. Future research should explore the effectiveness of such interventions and identify other factors contributing to impostor syndrome among healthcare students.

The postmortem interval (PMI) is one of the primary objectives and challenging tasks proposed for determining the time of death. This study aimed to estimate the PMI using serum levels of high mobility group box 1 (HMGB1), a biomarker of pyroptotic cell death, along with desmin immunohistochemical and histological analyses of the gastrocnemius muscle in rats at various time intervals. Serum and gastrocnemius muscle samples were collected at zero, 24-, 48-, 72-, and 96 hours postmortem from 50 rats maintained at 22 ± 2°C. The results revealed that the HMGB1 level peaked at 48 hours and dropped in a time-dependent manner afterward. Immunohistochemical analysis revealed a progressive decrease in desmin expression, with severe immunoreactivity (38.19%) at 0 hours, dropping to a minimal level (1.09%) 96 hours after death. Histological analysis of the gastrocnemius muscle at 96 hours revealed significant vacuolation, loss of normal architecture, reduced nuclear visibility, and complete autolysis of all myocytes. In conclusion, HMGB1 levels, desmin immunoreactivity, and histopathological alterations seen in the gastrocnemius muscle could be helpful, valuable, and potential markers for accurately determining PMIs in humans in future studies.

Correlations between body parameters and ocular parameters are essential to emphasize the diagnosis and management of ocular and systemic diseases. This study aimed to assess the associations between ocular parameters and anthropometric parameters in adult Sudanese individuals. A cross-sectional hospital-based study was conducted with 250 young volunteers (250 eyes) at Al-Neelain University Eye Hospital from January to June 2019. Clinical examinations included demographic data, medical history, visual acuity assessment, refractive error, and anterior corneal power (ACP) measurement using an autorefkeratometer and ocular biometry via A-scan ultrasound. Anthropometric assessments included height (measured using a wall-mounted metric ruler), weight (measured with a digital scale), and body mass index (BMI), calculated as weight divided by height squared. Data analysis was performed using SPSS version 25. There were 64 (25.6%) men and 186 (74.4%) women. The mean age was 21.29 ± 1.18 years. The mean body height, weight, and BMI were 1.62 ± 0.07 m, 58.56 ± 11.93 kg, and 22.38 ± 4.80 kg/m², respectively. The mean axial length (AL), ACP, anterior chamber depth (ACD), and vitreous depth (VD) were 22.81 ± 0.74 mm, 43.30 ± 1.40 D, 3.20 ± 0.33 mm, and 15.97 ± 0.67 mm, respectively. Body height was positively correlated with AL, ACD, and VD and negatively correlated with ACP (P < 0.001). Body weight was significantly positively correlated with AL and VD (P < 0.05). BMI was not correlated with any ocular parameters (P > 0.05). The study concluded that taller subjects had significantly longer axial lengths, deeper vitreous cavities, and flatter corneas. However, body weight was positively associated with axial length and vitreous depth.

Recent composites are being developed to simplify shade matching in composite restorations. Only a limited amount of research has been conducted to determine the optical performance of this newly introduced composite in this area. This study investigated the Omnichroma (OMN) color matching (a single shade composite within type-I restorations) via simulated clinical cavities. A total of 72 frames were created by occupying the mold with Estelite Σ Quick (ES) of A1, A2, and A3 shades (n = 24). Each shade of composite frame was divided into three subgroups (n = 8) according to cavity dimension (width = 2, 3, and 4 mm/depth = 2 mm). Cavities were filled with Omnichroma. Color parameters were calculated based on CIEDE2000 (ΔE00) using a non-contact spectrophotometer. Finally, the data were analyzed using a two-way ANOVA (the Tukey HSD test) (P = 0.05). The surrounding frame color significantly affected the color-matching capacity of OMN (P < 0.0001). Groups A1 and A3 showed the lowest and highest amounts of ΔE00, respectively. The cavity width also influenced the color-matching ability of OMN (P < 0.0001) significantly. According to the results, 4 mm cavity width showed the lowest amount of ΔE00, and 2 mm showed the highest amount. Monochromatic composites (OMN) did not match colors well in Class I cavities in posterior teeth. In cases of teeth with less chromatic surroundings, OMN matched shades better. OMN could better match shades in posterior teeth with wider cavities.

Ensuring good oral health is crucial for overall well-being. Missed appointments can negatively impact the quality of care and oral health outcomes, making it essential to identify the factors contributing to non-attendance. This study aimed to identify the factors associated with non-attendance at a pediatric dental clinic. The study used a cross-sectional design, which included a random sample (n = 265) of eligible pediatric patients under 12 years old, with data collected through questionnaires completed by their parents. Data were collected over 3 months, from November 2023 to January 2024, and analyzed using descriptive statistics and a chi-square test, with a confidence level of 95%. Results indicated that 76% of patients were school-age children, and 44% of children had missed their appointments. The critical barriers to attendance mentioned by parents were social and family commitments (15.2%), forgetfulness (11.2%), illness (8.6%), school commitments (6.9%), and fear of dental treatment (3.5%). The administrative barriers were due to staff miscommunications (10.3%), while non-attendance for unspecified reasons was 11.2%. Finally, the relationship between age, gender, and type of transportation with missed appointments was statistically significant (P < 0.05). This study highlights the significant rate of missed appointments and the factors contributing to non-attendance at pediatric dental clinics.

This study aimed to assess the effectiveness of photobiomodulation therapy (PBM) and leukocyte plasma-rich fibrin (L-PRF) in enhancing or accelerating osseointegration by promoting dental implant stability. The study included 15 patients lacking posterior mandibular teeth. Each participant received two implants in the mandibular edentulous area at the lower posterior region. The implants on the right side were categorized into three groups: Group A (650 nm laser), Group B (976 nm laser), and Group C with L-PRF (10 implants each). The left side served as the control. L-PRF was applied at the implant base before placement. Laser irradiation was performed on the buccal and lingual sides of the implants. Osseointegration was assessed using the AnyCheck system from Neo-Biotic Company. The Implant Stability Quotient (ISQ), ranging from 0-100, was measured post-operatively and after three months. There was a significant increase in stability after three months, particularly with 650 nm laser photobiomodulation followed by L-PRF application. The differences in ISQ among the three groups were statistically significant. After three months, implant stability was significantly higher both buccally and lingually in Group A, using powers of 75 mW and 100 mW, respectively, compared to the control (P <0.01). These findings indicate that PBM and L-PRF can significantly enhance osseointegration and improve dental implant stability in the posterior mandible. Patients and clinicians should consider the potential benefits of these interventions in implant dentistry, especially in cases involving the posterior mandible, where stability is crucial for successful implant outcomes.