Medical sciences (Basel, Switzerland)最新文献

Background: The reddening of the face and neck following alcohol consumption is known as Asian flush. Although genetic factors related to Asian flush have been reported to be inversely associated with duration of sleep, no study has reported an association between Asian flush and sleep satisfaction.

Methods: A cross-sectional study of 3823 Japanese people, aged 20 to 64 years was conducted. The target population comprised general public resident monitors of Osaka Prefecture who were registered with an internet research company.

Results: A significant inverse association was observed between Asian flush and satisfaction of sleep. The potential confounder-adjusted odds ratio (OR) and 95% confidence interval (CI) of satisfied sleep was 0.81 (0.69-0.96). The alcohol consumption status-specific analysis revealed essentially the same associations between consumers and non-consumers of alcohol. The adjusted ORs (95% CIs) were 0.81 (0.65-0.997) for non-consumers and 0.80 (0.61-1.05) for consumers of alcohol.

Conclusion: The genetic characteristics of physical reactions to alcohol exposure may influence sleep quality. One's alcohol consumption status may not influence the effects of having a lower tolerance to alcohol on sleep quality.

Background: Thrombophilia, characterized by an increased risk of thrombosis, can result from genetic polymorphisms in clotting factors. This study aims to investigate the prevalence of factor V Leiden (G1691A), factor II prothrombin (G20210A), and MTHFR (C677T and A1298C) polymorphisms in a Greek population, evaluating not only their association with thrombophilia, but also broader health implications.

Methods: We conducted a cross-sectional study involving one hundred apparently healthy adults from Thessaloniki, Greece. After obtaining informed consent, DNA was isolated and analyzed using real-time PCR to detect the frequencies of the aforementioned polymorphisms.

Results: The genetic distribution of the examined polymorphisms aligns closely with that observed in Northern Europe. Factor V Leiden (FVL) and prothrombin G20210A mutations were predominantly wild types, with a small percentage showing heterozygous mutations. The MTHFR C677T and A1298C polymorphisms showed a higher variation in allele frequency. Certain lifestyle factors such as smoking and high body mass index were significantly associated with the occurrence of combined MTHFR genotypes, suggesting an interaction between genetic and environmental risk factors. Family cancer and cardiovascular history was significantly associated with combined FVL and prothrombin G20210A and MTHFR polymorphism heterozygous carriers.

Conclusions: Our findings indicate that these genetic polymorphisms are not only pivotal in understanding thrombophilia but also have broader implications for cardiovascular disease and cancer. This study highlights the need for further research into the combined effects of genetic and epigenetic factors on health, which could lead to improved screening and personalized preventive healthcare strategies.

Background: Chronic Myelomonocytic Leukemia (CMML) is a rare and aggressive form of leukemia with characteristics of both myeloproliferative neoplasms (MPNs) and myelodysplastic syndromes (MDSs). This study aims to explore the clinical features, survival outcomes, and prognostic factors in CMML patients over the past 20 years using a large sample. Methods: The study data from 4124 patients diagnosed with CMML between 2000 and 2017 were sourced from the SEER database. Demographic and clinical characteristics, along with overall and cancer-specific mortality, were examined. Factors with a p-value < 0.01 in univariate Cox regression were included in the multivariate Cox model to identify independent prognostic factors, with hazard ratios (HRs) greater than one indicating adverse outcomes. Results: The majority of the cohort were male (61.57%), and most diagnoses occurred between ages 60-79 (55.16%), with a small percentage under 40 (1.41%). Non-Hispanic whites represented the largest racial group (79.03%). Multivariate analysis showed higher mortality in males, those aged 80+, residents in metropolitan areas with populations between 250,000 and 1 million, single or widowed individuals, and those who underwent chemotherapy. Conversely, lower mortality was associated with an annual income of $75,000+. Conclusions: CMML remains a rare and highly aggressive hematologic disorder. This U.S.-based retrospective cohort study identified male gender, advanced age, single or widowed status, and chemotherapy as independent poor prognostic factors. While it is expected that older patients and those requiring chemotherapy would have a poorer prognosis, the higher mortality risk in single or widowed patients, as well as males, warrants further investigation. The early involvement of family and community support may help reduce mortality in these groups, suggesting a need for larger prospective studies to explore these associations further.

Objective: This study evaluates the suitability of cerebral oximetry using near-infrared spectroscopy (NIRS) compared to traditional pulse oximetry (SpO2) for measuring cerebral oxygen saturation during hypoxia testing, aiming to enhance safety during flight operations and training. Material and Methods: The study included 106 participants aged 18-60 years at the Aerospace Medicine Training Center in Königsbrück. Cerebral oxygen saturation (rSO2) and peripheral oxygen saturation (SpO2) were measured using the INVOS™ 5100C cerebral oximeter and Masimo™ MS5 pulse oximeter, respectively. Measurements were taken at baseline, during hypoxia at 25,000 feet, and post recovery. Data analysis included regression analysis, Bland-Altman plots, and concordance correlation coefficients (CCC). Ethical approval was obtained from the Hannover Medical School. Data from 100 participants were analyzed. Results: Baseline SpO2 was 97.5 ± 1.5%, and baseline rSO2 was 77.25 ± 6.4%. During hypoxia, SpO2 dropped significantly, while rSO2 showed higher values. SpO2 recovered faster than rSO2. Deviations in rSO2 between the right and left sides during hypoxia were minimal. Lin's CCC indicated moderate to substantial concordance. NIRS measurements were more stable and less prone to disturbances, with 95 disruptions in pulse oximetry, 25 of which were potentially critical. Conclusions: NIRS is a reliable method for detecting cerebral oxygen saturation, offering significant advantages over traditional pulse oximetry in stability and reliability during hypoxia testing. NIRS is less error-prone, supporting its use for continuous monitoring in aviation settings and enhancing flight safety by providing more accurate hypoxia detection.

More than approximately 120 transthyretin mutations are known. Their clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. They are little known in Ecuador, and some of the reported cases suggest-given analysis of family trees-that they come from a province that is possibly considered endemic. The main objective of this study is to perform a descriptive observational analysis on the presentation of transthyretin amyloidosis in families carrying the p.Ser43Asn gene of the identified index case.

Objectives: To differentiate invasive lepidic predominant adenocarcinoma (iLPA) from adenocarcinoma in situ (AIS)/minimally invasive adenocarcinoma (MIA) of lung utilizing visual semantic and computer-aided detection (CAD)-based texture features on subjects initially diagnosed as AIS or MIA with CT-guided biopsy.

Materials and methods: From 2011 to 2017, all patients with CT-guided biopsy results of AIS or MIA who subsequently underwent resection were identified. CT scan before the biopsy was used to assess visual semantic and CAD texture features, totaling 23 semantic and 95 CAD-based quantitative texture variables. The least absolute shrinkage and selection operator (LASSO) method or forward selection was used to select the most predictive feature and combination of semantic and texture features for detection of invasive lung adenocarcinoma.

Results: Among the 33 core needle-biopsied patients with AIS/MIA pathology, 24 (72.7%) had invasive LPA and 9 (27.3%) had AIS/MIA on resection. On CT, visual semantic features included 21 (63.6%) part-solid, 5 (15.2%) pure ground glass, and 7 (21.2%) solid nodules. LASSO selected seven variables for the model, but all were not statistically significant. "Volume" was found to be statistically significant when assessing the correlation between independent variables using the backward selection technique. The LASSO selected "tumor_Perc95", "nodule surround", "small cyst-like spaces", and "volume" when assessing the correlation between independent variables.

Conclusions: Lung biopsy results showing noninvasive LPA underestimate invasiveness. Although statistically non-significant, some semantic features showed potential for predicting invasiveness, with septal stretching absent in all noninvasive cases, and solid consistency present in a significant portion of invasive cases.

Background/objectives: Neutropenia is a frequent complication among solid organ transplant (SOT) recipients receiving immunosuppressive therapy and antimicrobial prophylaxis. However, there are limited studies analysing the frequency and impact of neutropenia in lung transplant recipients (LTRs). Our aim was to analyse the frequency of neutropenia, the need for granulocyte colony-stimulating factor (GCSF) treatment within the first 18 months post-transplant and its association with acute rejection, chronic lung allograft dysfunction (CLAD), overall survival and the development of infections.

Methods: This observational and retrospective study recruited 305 patients who underwent lung transplantation between 2009 and 2019, with outpatient quarterly follow-up during the first 18 months post-surgery.

Results: During this period, 51.8% of patients experienced at least one episode of neutropenia. Neutropenia was classified as mild in 50.57% of cases, moderate in 36.88% and severe in 12.54%. GCSF treatment was indicated in 23.28% of patients, with a mean dose of 3.53 units. No statistically significant association was observed between neutropenia or its severity and the development of acute rejection, CLAD or overall survival. However, the patients who received GCSF treatment had a higher mortality rate compared to those who did not. Sixteen patients (5.25%) developed infections during neutropenia, with bacterial infections being the most common.

Conclusions: Neutropenia is common in the first 18 months after lung transplantation and most episodes are mild. We did not find an association between neutropenia and acute rejection, CLAD, or mortality. However, the use of GCSF were associated with worse post-transplant survival.

The prevalence of overweight and obesity is increasing worldwide. Common comorbidities related to obesity, significantly polygenic disorders, cardiovascular disease, and heart conditions affect social and monetary systems. Over the past decade, research in drug discovery and development has opened new paths for alternative and conventional medicine. With a deeper comprehension of its underlying mechanisms, obesity is now recognized more as a chronic condition rather than merely a result of lifestyle choices. Nonetheless, addressing it solely through lifestyle changes is challenging due to the intricate nature of energy regulation dysfunction. The Federal Drug Administration (FDA) has approved six medications for the management of overweight and obesity. Seaweed are plants and algae that grow in oceans, rivers, and lakes. Studies have shown that seaweed has therapeutic potential in the management of body weight and obesity. Seaweed compounds such as carotenoids, xanthophyll, astaxanthin, fucoidans, and fucoxanthin have been demonstrated as potential bioactive components in the treatment of obesity. The abundance of natural seaweed bioactive compounds has been explored for their therapeutic potential for treating obesity worldwide. Keeping this view, this review covered the latest developments in the discovery of varied anti-obese seaweed and its bioactive components for the management of obesity.

Purpose: This paper aims to describe a straightforward, efficient, and reliable technique to simplify cannulation maneuvers during aortic branched endograft repair.

Technique: The suggested approach utilizes the Penumbra Neuron Select catheter, which combines diagnostic, sizing, and support capabilities in one. This has the potential to reduce procedural time and minimize the need for serial catheter and guidewire exchanges.

Conclusions: The proposed technique offers a simple yet effective tool to mitigate the risk of vessel loss and injury, and to streamline complex aortic repair procedures.

Arterial hypertension remains the major cardiovascular risk worldwide. It is estimated that under 50 years of age one in every three adults is hypertensive while beyond the age of 50 the prevalence is almost 50% globally. The latest World Health Organization (WHO) Global Report on Hypertension indicated that the global number of hypertensive patients almost doubled in the last three decades, with related increasing deaths, disability, and costs annually. Because of this global increase, early diagnosis and timely treatment is of great importance. However, based on the WHO Global Report, it is estimated that up to 46% of individuals were never diagnosed. Of those diagnosed, less than 50% were on treatment, with nearly half among these at target according to the current guidelines. It is also important to note that an increasing number of hypertensive patients, despite the use of three or more drugs, still do not achieve a blood pressure normalization, thus defining the clinical scenario of resistant hypertension (RH). This condition is associated to a higher risk of hypertension-mediated organ damage and hospitalization due to acute cardiovascular events. Current guidelines recommend a triple combination therapy (renin angiotensin system blocking agent + a thiazide or thiazide-like diuretic + a dihydropyridinic calcium-channel blocker) to all patients with RH. Beta-blockers and mineralocorticoid receptor antagonists, alone or in combination, should be also considered based on concomitant conditions and potential contraindications. Finally, the renal denervation is also proposed in patients with preserved kidney function that remain hypertensive despite the use of maximum tolerated medical treatment. However, the failure of this procedure in the long term and the contraindication in patients with kidney failure is a strong call for a new therapeutic approach. In the present review, we will discuss the pharmacological novelties to come for the management of hypertension and RH in the next future.