Postgraduate medicine最新文献

Objective: To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity.

Methods: This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the MEFV gene (M694V, M694I, M680I, V726A, R761H, T267I). Patients were grouped according to age at disease onset (Group 1:<6 years; Group 2:6-11 years; and Group 3:>11 years). Disease severity was assessed by the international severity scoring system for FMF (ISSF).

Results: Of the patients, 294 (60.6%) were classified in Group 1, 152 (31.4%) in Group 2 and 39 (8%) in Group 3. The mean elapsed time to diagnosis was 26.7 ± 27.4 months in Group 1 and was higher than the other groups (p < 0.001). During the attack, fever was higher in Group 1, arthritis in Group 2, and chest pain in Group 3 (p < 0.001). The median ISSF score was similar in patients with uni- or biallelic mutations in Group 1 and 3 (p = 0.086, p = 0.35, respectively) but lower in heterozygous patients in Group 2 (p < 0.001). In Groups 1 and 2, mild disease severity was higher in heterozygotes, while moderate disease severity was higher in homozygotes (p = 0.034, p = 0.001, respectively).

Conclusion: The presence of pathogenic or likely pathogenic homozygous or compound heterozygous mutations in exon 10 of the MEFV gene in patients with early-onset disease is associated with a more severe disease course compared to patients with heterozygous mutations. The gene dose effect of the number of mutations on disease severity is more common in children aged 6-11 years.

Objectives: To assess the association between fibromyalgia (FM) and insulin resistance (IR) using multiple IR indices in FM patients and to investigate how these indices vary with the severity of FM.

Methods: This cross-sectional study included 70 female patients diagnosed with FM and 70 age-matched female healthy controls. The data collected included demographics, clinical characteristics, and laboratory parameters. FM severity was evaluated using the Fibromyalgia Impact Questionnaire-Revised (FIQR). The metabolic indices calculated were the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), Quantitative Insulin Sensitivity Check Index (QUICKI), triglyceride - glucose index (TyG), triglyceride to HDL cholesterol ratio (TG/HDL-C), and Metabolic Score for Insulin Resistance (METS-IR).

Results: FM patients exhibited significantly higher HOMA-IR values (p = 0.002), and lower QUICKI values (p = 0.000) than controls. METS-IR also showed significant differences between FM patients and controls (p = 0.026). HOMA-IR and METS-IR values increased with FM severity, whereas QUICKI values decreased (p < 0.05). Duration of FM showed a moderately positive correlation with HOMA-IR (r = 0.249, p = 0.027). For TG/HDL-C and METS-IR, the correlations were weaker, but still positive (r = 0.094, p = 0.378, and r = 0.184, p = 0.056, respectively).

Conclusion: This study observed a significant association between FM and IR, as evidenced by metabolic indices in FM patients compared to controls. IR levels tended to increase with FM severity and duration. These findings suggest that IR could play a role in FM pathogenesis. Non-invasive and practical methods, such as METS-IR, may provide advantages for metabolic screening in FM patients; however, further studies are needed to establish their clinical utility.

Background: Antithrombotic drugs pose a dual challenge to acute upper gastrointestinal bleeding, with associated risks of bleeding complications and thromboembolic events upon withdrawal. We aimed to determine the impact of antithrombotic medications on in-hospital and delayed outcomes and whether suspension and resumption influenced delayed mortality.

Methods: This study was a prospective registry analysis of patients between 2013-2021. Anticoagulants and antiplatelets were classified as antithrombotic. The examined outcomes included in-hospital mortality and delayed 6-month cardiovascular, bleeding, and mortality events.

Results: A total of 1345 patients were included. 21.7% were taking anticoagulants and 19.1% were taking antiplatelets. Patients on antithrombotic therapy have a longer delay in endoscopic performance (11 ± 11 h vs. 9.6 ± 8 h; p = 0.027) and less need for therapy (38.5% vs. 48.1%;p = 0.002), with gastric erosion being more usual (14.2% vs. 9.1%; p = 0.006).In-hospital mortality was higher in patients not taking antithrombotic (12% vs. 8%;p = 0.022) and suspension < 72 h was associated with increased mortality (14.9% vs. 2.3%;p = 0.001).Delayed mortality was higher in patients taking antithrombotic (9.4% vs. 6%; p=0.034) and in those who suspended them for more than 7days (17% vs. 8.7%; p=0.033), with no differences when it lasted<72h.Patients on antithrombotic therapy exhibited more delayed cardiovascular (13.7% vs. 3.4%; p<0.0001) and hemorrhagic events (22.9% vs. 12.9%; p<0.0001), with no differences observed in patients who withheld antithrombotic medication.Multivariate analysis identified ASA, disseminated malignancy, and NSAIDs as independent risk factors for in-hospital mortality, whereas antithrombotic therapy and hemoglobin levels were protective factors.

Conclusion: Patients with upper gastrointestinal bleeding treated with antithrombotic drugs had lower in-hospital mortality despite increased comorbidities and older age. Conversely, delayed 6-month mortality was higher. Shorter antithrombotic suspension durations increased in-hospital mortality, whereas suspension for > 7 days increased delayed mortality.

Objectives: This study aimed to investigate the impact of having a companion during vaginal birth on postpartum depression and birth satisfaction.

Methods: This prospective cohort study included 220 postpartum women aged 18-45 who delivered vaginally at Ankara Etlik City Hospital between August 2023 and February 2024. During labor, each woman had the option to be accompanied by a companion person (such as a mother, partner or spouse, sibling, or friend) of her choice; those who opted not to have a relative present received the standard support provided by the hospital's routine birth protocol. Participants were divided into three groups based on the type of support received during childbirth: spousal support, support from others (non-spousal support), and no support. Data were collected within six weeks postpartum using the Edinburgh Postnatal Depression Scale (EPDS) and the Birth Satisfaction Scale-Revised (BSS-R).

Results: Women supported by their spouses during childbirth had significantly higher BSS-QC (Quality of care provision), BSS-SL (Stress experienced during labor), and BSS-R total scores compared to those without support. BSS-SL scores were particularly higher for those with spousal support versus support from others or no support. Non-spousal support also resulted in higher BSS-QC scores than no support at all. BSS-WA (Women's personal attributes) scores and EPDS scores were similar between the groups. Additionally, no significant differences in BSS-QC, BSS-SL, BSS-WA, and BSS-R total scores were observed between women with high (≥13) and low (<13) EPDS scores, but a negative correlation between EPDS and BSS-R total scores was noted (r=-0.203, p = 0.003).

Conclusion: Women receiving spousal support during childbirth reported significantly higher birth satisfaction, particularly in care quality (BSS-QC) and stress management (BSS-SL). The presence of a companion, whether spousal or non-spousal, positively influenced birth satisfaction, though it did not significantly affect postpartum EPDS scores.

Background: Migraine is a recurrent headache disorder characterized by moderate to severe, throbbing pain, typically unilateral. It can be classified as migraine with or without aura, depending on the presence or absence of visual or sensory disturbances known as auras, respectively.

Aim: The objective of this study was to determine the prevalence of ecchymosis in patients with migraine and its accuracy parameters in the differential diagnosis between migraine and tension-type headache (TTH).

Method: Patients with migraine or tension-type headache, diagnosed according to the International Classification of Headache Disorders (ICHD-3) criteria, were assessed regarding the prevalence of skin ecchymosis, both during headache attacks and in the pain-free period.

Results: Four hundred patients were investigated. The subjects were equally divided in two groups presenting the diagnosis of migraine and TTH. Ages were, respectively, 37.3 ± 9.0 years for migraineurs and 40.0 ± 10.0 years for sufferers of TTH. Ecchymosis was present in 76% of patients with migraine and in 11% of patients with TTH (p < 0.0001). In both patients with migraine and TTH, ecchymosis predominated in women, respectively in 92.1% and 63.6% (p < 0.0001). Among the 152 patients with migraine who reported ecchymosis, they were present in most of headache attacks (69.7%), occurred within the first 24 hours after the headache onset (68.4%) and were unilateral in location (65.1%), mainly on the arms (34.9%) and thigh (24.3%). The ecchymosis were larger than 2 cm in diameter (60.5%), lasting longer than four days (89.5%). During the presence of ecchymosis, the headache was unilateral (91.5%), pulsatile (80.3%), severe to very severe (67.8%) and worsening with physical activity (75%).

Conclusions: Intermittent skin ecchymosis may be a differentiating factor between migraine and tension-type headache and a specific marker of migraine to be considered as a criterion for its diagnosis.

Objectives: This study investigated the influencing factors of exercise systolic blood pressure response (ESBPR) by cardiopulmonary exercise test (CPX) in nonalcoholic fatty liver disease (NAFLD) in people aged 40-60 years.

Methods: A total of 603 adults were enrolled in this study. The inclusion criteria of this cross-sectional study were adults who underwent health checks and CPX.

Results: There were significant differences in body mass Index (BMI) (26.80 ± 2.64 VS 23.31 ± 2.41, p < 0.001) kg/m2, fasting blood glucose (FPG) (5.56 ± 0.94 VS 5.13 ± 0.55, p < 0.001) mmol/L, alanine aminotransferase (ALT), aspartate transaminase (AST), triglycerides (TG), high-density lipoprotein-cholesterol (HDL-C) (1.13 ± 0.22 VS 1.43 ± 0.33, p < 0.001) mmol/L, low-density lipoprotein-cholesterol (LDL-C) (3.21 ± 0.79 VS 2.99 ± 0.68, p = 0.001) mmol/L, resting systolic blood pressure (SBP) (123.53 ± 14.73 VS 118.79 ± 14.79, p < 0.001) mmHg, resting diastolic blood pressure (DBP) (80.29 ± 9.62 VS 75.27 ± 10.41, p < 0.001) mmHg, peak SBP (184.01 ± 23.50 VS 172.81 ± 24.95, p < 0.001) mmHg, peak DBP (87.47 ± 10.50 VS 84.01 ± 11.46, p = 0.001) mmHg, oxygen pulse (VO2/HR) (0.88 ± 0.15 VS 0.92 ± 0.16, p = 0.004) ml/beat, exercise maximum heart rate, carbon dioxide Ventilation equivalent (VE/VCO2) (25.84 ± 4.43 VS 25.12 ± 3.58, p = 0.038), peak oxygen uptake (VO2 peak) (1.78 ± 0.45 VS 1.56 ± 0.46, p < 0.001) mL/min between the NAFLD and control groups. VE/VCO2 (OR = 0.822, p = 0.036) and oxygen uptake/work rate (VO2/WR) (OR = 0.517, p = 0.021) mL/min/watt were associated with a lower risk of ESBPR in NAFLD subjects. Resting SBP was associated with a higher risk of ESBPR in NAFLD patients (OR = 1.059, p = 0.003) and overweight NAFLD subjects (OR = 1.075, p = 0.002). ESBPR (OR = 1.268, p = 0.045), skeletal-muscle mass (OR = 1.305, p < 0.001), and SMI (OR = 1.315, p < 0.001) were linked to an elevated risk of NAFLD in individuals.

Conclusion: Our findings indicate that ESBPR is associated with an increased risk of NAFLD in individuals aged 40-60 years. Furthermore, in NAFLD subjects, VE/VCO2 and VO2/WR were found to be correlated with a decreased risk of ESBPR, whereas resting SBP was linked to an elevated risk of ESBPR. This will provide a research basis for the NAFLD subjects who have ESBPR at risk of adverse events during exercise.

Hospitals and healthcare workers in Africa, and Nigeria specifically, are increasingly being confronted by complex situations, in which decision-making becomes more troublesome in the presence of conflicting goals, values, and preferences among the respective stakeholders. Given that all healthcare decision-making requires ethical considerations, and there is a noted absence or paucity of documentation of institutionalized mechanisms for addressing any associated concern or dilemma in Nigeria, it is thus unclear how most hospitals, healthcare workers, and the public handle the ethical dimensions of patients' care and hospital practice, while also generating possibilities for improvement in care quality. This paper is an attempt to heighten awareness of the need for clinical ethics support services (CESS) in Nigeria and encourage thought, reflection and dialogue over the issues raised. The authors, drawing from their experiences as practicing bioethicists and health care professionals, as well as findings from an unpublished exploratory qualitative study and a review of literature, posit that Nigeria is ripe for the formalization of CESS, especially at the tertiary level of care. Based on the identified bioethics manpower capacity and societal utilization of the existing telecommunication infrastructure in Nigeria, we propose the establishment of a homegrown and socially responsive pilot initiative in which, on-site hospital ethics support services, as well as a web/portal-based or online component will be accessible to all interested healthcare professionals/students, patients, bioethicists, and members of the public. Though the evidence for the effectiveness and impact of CESS and related services on the quality and outcome of care has remained relatively weak and there is no single existing CESS model that has been comprehensively proven to be beneficial to healthcare practice in all settings, we argue that the establishment of formal and homegrown CESS should be of top priority in Nigeria, and Africa generally.

Adult-onset Still's disease (AoSD) is a rare systemic autoinflammatory disorder of unknown etiology that affects young adults. Here, we report two cases of delayed AoSD diagnosis, which was initially diagnosed as tuberculous arthritis and systemic lupus erythematosus (SLE) before referral. In the first case, tuberculous arthritis treatment was commenced based on positive interferon-gamma release assay results, whereas in the second case, SLE was diagnosed based on clinical symptoms and positive antinuclear antibody results. There was no clinical improvement after treatment based on the initial diagnosis, patient referral, or diagnostic elaboration. After further evaluation, the clinical and laboratory features were found to be appropriate for the diagnosis of AoSD. Both patients had anemia, fever, arthritis, and high ferritin levels and were treated with high-dose methylprednisolone followed by methotrexate; clinical improvement was observed, and the ferritin levels reduced.

Objectives: The triglyceride-glucose (TyG) index is a novel diagnostic marker for various metabolic and cardiovascular diseases. However, little is known about the association of the TyG index with plasma atherogenicity, especially with its latent forms. The aim of this study was to assess the potential of the use of the TyG index as a marker of atherogenic risk.

Methods: A total of 202 men with normolipidaemia, aged 20-60 years, were enrolled in this study. Fasting biochemical parameters were measured. The TyG index was calculated as ln[triglyceride(mg/dL)×glucose(mg/dL)]/2. The diagnostic ability of the TyG index for detecting atherogenic risk was tested by receiver operating characteristic (ROC) curve analysis.

Results: A substantial portion of normolipidaemic men had deviations from the reference values for the indices calculated using apolipoproteins. Unfavorable values for the apolipoprotein (apo) B/apoA-I ratio, low-density lipoprotein cholesterol/apoB (LDL-C/apoB) ratio, and the atherogenic index (ATH index) were observed in 32.7%, 31.7%, and 14.4% of men, respectively. The results of ROC curve analysis showed that the TyG index had good diagnostic ability for identifying unfavorable apolipoprotein indices in normolipidaemic men.

Conclusions: Thus, the TyG index can be a valuable additional marker for assessing latent atherogenic risk; it can provide useful information for the diagnosis and treatment of early atherosclerosis.