RESUMO
OBJECTIVE: To determine the frequency of chromosomal aberrations in chorions after a miscarriage. The second was to examine selected euploid chorions using a next-generation sequencing (NGS) panel designed to assess 43 genes associated with pregnancy loss. MATERIALS AND METHODS: The 1244 chorions were tested by targeted quantitative fluorescent PCR (QF-PCR, 827 chorions) and microarray-based comparative genomic hybridization (aCGH, 417 chorions). Then, 9 euploid chorions were examined using a designed NGS panel. RESULTS: Trisomies were the most common chromosomal aberration identified in the spontaneous miscarriage samples. The second chromosomal abnormality in the aCGH group and the third most common in the QF-PCR group was monosomy X. Structural aberrations were the third most common aberration in the samples screened by aCGH (7.7% of chorions). In 19% of 647 couples who submitted chorions for analysis after pregnancy loss, the chromosomal abnormality in the chorion originated from a woman with a balanced chromosomal rearrangement. This discovery was statistically significant compared to patients with normal chorions. Using the designed NGS panel, we identified a potentially pathogenic de novo variant in the F5 gene in two euploid chorions. Additionally, among the patients who experienced miscarriages and were screened using the NGS panel, we identified variants in the MDM, ACE, and NLRP2 genes that could be associated with a predisposition to pregnancy loss. CONCLUSION: Numerical aberrations are the most common cause of miscarriages, but structural chromosomal aberrations also account for a significant proportion of abnormal results. Our findings indicate that couples with structural chromosomal abnormalities in material post-miscarriage are at increased risk of carrying balanced chromosomal abnormalities. Moreover, NGS-based analyses can uncover previously unidentified causes of miscarriages in the chorionic villi.
Assuntos
Aborto Espontâneo , Córion , Aberrações Cromossômicas , Humanos , Feminino , Gravidez , Aborto Espontâneo/genética , Sequenciamento de Nucleotídeos em Larga Escala , Hibridização Genômica Comparativa , Adulto , MutaçãoRESUMO
In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13-17 years, and children aged 6-12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English. Patients completed the questionnaires according to their affiliation with one of the groups. Validation was based on internal consistency analysis (Cronbach's alpha coefficient and split-half reliability) and test-retest reliability (intraclass correlation coefficient-ICC). The internal consistency of all questionnaires was from moderate to very good (Cronbach's alpha 0.67-0.91, split-half reliability 0.53-0.95). The consistency of the measurements showed excellent repeatability (ICC 0.67-0.91). The surveyed Polish PCD patients rated their quality of life quite well (63-77%). QOL questionnaires for patients with PCD can be used routinely during each medical check-up as a simple tool to provide the doctor with an indication of the effectiveness of treatment and the impact of the disease on the patient's quality of life.
Assuntos
Qualidade de Vida , Humanos , Qualidade de Vida/psicologia , Inquéritos e Questionários/normas , Polônia , Adolescente , Criança , Masculino , Feminino , Reprodutibilidade dos Testes , Adulto , Transtornos da Motilidade CiliarRESUMO
OBJECTIVES: The article aims to compare payment schemes for cataract, glaucoma, vitrectomy, cornea transplantations, DME, and AMD across Hungary, Poland, and Ukraine, and to identify implementable practices in Ukraine within the context of ongoing healthcare reforms. METHODS: Researchers used mixed-method research-with legal documents and data analysis on utilisation of ophthalmology services between 2010 and 2019 and in-depth semi structured interviews with fifteen health experts from Hungary, Poland, and Ukraine. Interviewees, five from each country, were representatives from healthcare providers and payers with at least 10 years' experience in ophthalmology care and knowledge about financing schemes in each country of residence. RESULTS: We identified significant differences in healthcare delivery and financing of ophthalmology services between Hungary and Poland, despite both countries rely on Diagnosis-Related Group (DRG) based systems for hospital care. Good practices for financing specific eye treatments like cataract, glaucoma, age-related macular degeneration (AMD), diabetic macular edema (DME), cornea transplantations, and vitrectomy are identified. The financing scheme, including financial products and incentives, can influence the volume of treatments. Access to ophthalmic care is a key concern, with differences in treatment schemes between Hungary (ambulatory care) and Poland (hospital care), leading to higher costs and the need for centralization of complex procedures like cornea transplantations. CONCLUSIONS: The article highlights the importance of incentivizing quality improvements and removing financial barriers in Poland, while Hungary should focus on continuous monitoring of treatment methods and flexibility in reimbursement. For Ukraine, the research findings are significant due to ongoing healthcare reform, and the country seeks optimal practices while considering the experiences of other countries.
Assuntos
Oftalmologia , Humanos , Ucrânia , Oftalmologia/economia , Polônia , Hungria , Atenção à Saúde/economia , Financiamento da Assistência à Saúde , Transplante de Córnea/economiaRESUMO
Acne vulgaris is a common disease, which occurs in adolescents as well as adults and has a significant influence on the patient's quality of life (QoL) in every aspect. Due to resistance to standard therapies, it has become necessary to prospect for new treatment strategies. It is important to highlight that the diagnosis and treatment of the underlying cause of acne such as metabolic and hormonal disorders may significantly improve the effectiveness of acne treatment. The correlation between Insulin Resistance (IR) and acne has been proven. Both disorders share many common occurrence factors and activation pathways. Metformin, an antihyperglycemic agent, seems to be a possible therapy option, not only because of its insulin sensitizing ability but also via plenty of additional effects of this medicine. While the efficiency of metformin therapy in patients with acne and Polycystic Ovary Syndrome (PCOS) is well explored, it is still necessary to evaluate it in patients without any endocrinopathies. This meta-analysis aimed to estimate the effectiveness of oral metformin as a monotherapy in acne patients without PCOS or other endocrinopathies. Study selection was performed with included criteria such as no PCOS and other endocrinopathies diagnosed, oral administration of metformin, and metformin in monotherapy. Selected studies contained comparisons in the Global Acne Grading System (GAGS) before and after metformin therapy. Statistical analysis detected significant improvement in skin condition after treatment with metformin.
RESUMO
The purpose of this article is to investigate the common facilitators and barriers associated with the implementation of hospital-based health technology assessment (HB-HTA) across diverse hospital settings in seven countries. Through a two-round Delphi study, insights were gathered from a panel of 15 HTA specialists from France, Hungary, Italy, Kazakhstan, Poland, Switzerland, and Ukraine. Experts initially conducted a comprehensive review of the HB-HTA implementation in their respective countries, identifying the barriers and facilitators through descriptive analysis. Subsequently, panel experts ranked these identified barriers and facilitators on a seven-point Likert scale. A median agreement score ≥ 6 and interquartile range (IQR) ≤ 1 was accepted as reaching a consensus. Out of the 12 statements categorized as external and internal barriers and facilitators, the expert panel reached consensus on six statements (two barriers and four facilitators). The external barrier, which achieved consensus, was the lack of the formal recognition of the role of HB-HTA in national or regional legislations. The internal barrier reaching consensus was the limited availability of human resources dedicated to HB-HTA. This qualitative study indicates that HB-HTA still has progress to make before being formally accepted and integrated across most countries, although by building on the facilitating factors we identified there may be an opportunity for the implementation of internationally developed strategies to strengthen HB-HTA practices.
RESUMO
Binary classification methods encompass various algorithms to categorize data points into two distinct classes. Binary prediction, in contrast, estimates the likelihood of a binary event occurring. We introduce a novel graphical and quantitative approach, the U-smile method, for assessing prediction improvement stratified by binary outcome class. The U-smile method utilizes a smile-like plot and novel coefficients to measure the relative and absolute change in prediction compared with the reference method. The likelihood-ratio test was used to assess the significance of the change in prediction. Logistic regression models using the Heart Disease dataset and generated random variables were employed to validate the U-smile method. The receiver operating characteristic (ROC) curve was used to compare the results of the U-smile method. The likelihood-ratio test demonstrated that the proposed coefficients consistently generated smile-shaped U-smile plots for the most informative predictors. The U-smile plot proved more effective than the ROC curve in comparing the effects of adding new predictors to the reference method. It effectively highlighted differences in model performance for both non-events and events. Visual analysis of the U-smile plots provided an immediate impression of the usefulness of different predictors at a glance. The U-smile method can guide the selection of the most valuable predictors. It can also be helpful in applications beyond prediction.
Assuntos
Curva ROC , Humanos , Modelos Logísticos , Algoritmos , Funções Verossimilhança , CardiopatiasRESUMO
Objective: The influence of age on treatment outcomes in oral cancer is unclear. We aimed to determine the prevalence of oral cancer in adults under age 45 and to compare treatment outcomes by age. Methods: Retrospective study of 284 patients treated for oral cancer from 2010 to 2021. The primary analysis involved the full cohort stratified by age (< vs. ≥ 45y). The second analysis included all patients under age 45 (n=44) matched 1:1 by sex and stage to older patients (age 55-70). Results: In the primary analysis, the only significant difference was more comorbidities in the older group (p<0.001). In the matched-pair analysis, older patients were more likely to be smokers (75% vs. 54%; p=0.045) and had more comorbidities (p=0.007). The mean PLR and NLR values were significantly higher in the younger group. Conclusions: No significant differences were observed between age groups in disease stage or outcomes, suggesting that other variables are more important.
RESUMO
In patients with oral cancer, the risk factors for local, regional, and distant recurrence according to margin status have not been well established. We aimed to determine the risk factors for recurrence by margin status and to identify a margin cut-off point for improved survival in patients with close margins. We retrospectively reviewed adult patients treated at our centre from 2009 to 2021 for primary oral cancer. Margins were classified as positive (<1 mm), close (1 to 4.9 mm), or clear (>5 mm). Univariate and multivariate analyses were performed. A total of 326 patients (210 men) were included. The mean age was 59.1 years. Margin status was close (n = 168, 51.5%), clear (n = 83, 25.4%), or positive (n = 75, 23.0%). In the univariate analysis, positive surgical margins (HR = 7.53) had the greatest impact on distant failure. Positive surgical margins-without nodal involvement-had the greatest impact on the risk of distant failure. In the close margin group, the optimal cut-off for disease-free survival (AUC = 0.58) and overall survival (AUC = 0.63) was a deep margin > 3 mm, with survival outcomes that were comparable to the clear margin group. These finding suggest that margins < 5 mm may be sufficient in certain well-defined cases. Prospective studies are warranted to confirm these findings.
RESUMO
This study was conducted in two groups of girls with PCOS (polycystic ovary syndrome) categorized as slim (group N) and overweight-to-obese (group Ov/Ob). The study's primary outcome was to assess the impact of a 12-week anti-inflammatory diet (AIDiet) intervention, without energy deficit, on daily diet quality improvement, evaluated according to the KIDMED index. The secondary outcome was improving inflammatory, redox, hormonal, and metabolic statuses. In the study, which was completed by 13 girls from the Ov/Ob group and 19 girls from the N group, a significant improvement in the mean KIDMED score was obtained. Moreover, the intervention significantly improves concentration of total antioxidant capacity (TAC), fasting insulin, and the homeostatic model assessment for insulin resistance (HOMA-IR) index, in the Ov/Ob group, while both groups experienced a reduction in the concentration of interleukin (IL)-1 and IL-6, tumour necrosis factor (TNF-α), and androstenedione. The AIDiet intervention effectively improved the quality of the subjects' diets, which was associated with the improvement of hormonal and immuno-metabolic markers. However, these changes in normal-weight patients were observed regardless of body weight reduction. ClinicalTrials.gov Identifier NCT04738409.
Assuntos
Resistência à Insulina , Síndrome do Ovário Policístico , Feminino , Humanos , Sobrepeso/terapia , Sobrepeso/complicações , Síndrome do Ovário Policístico/metabolismo , Projetos Piloto , Dieta , Insulina , Anti-Inflamatórios , Índice de Massa CorporalRESUMO
RATIONALE: In bipolar disorder (BD), immunological factors play a role in the pathogenesis and treatment of the illness. Studies showed the potential link between Abelson Helper Integration Site 1 (AHI1) protein, behavioural changes and innate immunity regulation. An immunomodulatory effect was suggested for lithium, a mood stabilizer used in BD treatment. OBJECTIVES: We hypothesized that AHI1 may be an important mediator of lithium treatment response. Our study aimed to investigate whether the AHI1 haplotypes and expression associates with lithium treatment response in BD patients. We also examined whether AHI1 expression and lithium treatment correlate with innate inflammatory response genes. RESULTS: We genotyped seven AHI1 single nucleotide polymorphisms in 97 euthymic BD patients and found that TG haplotype (rs7739635, rs9494332) was significantly associated with lithium response. We also showed significantly increased AHI1 expression in the blood of lithium responders compared to non-responders and BD patients compared to healthy controls (HC). We analyzed the expression of genes involved in the innate immune response and inflammatory response regulation (TLR4, CASP4, CASP5, NLRP3, IL1A, IL1B, IL6, IL10, IL18) in 21 lithium-treated BD patients, 20 BD patients treated with other mood stabilizer and 19 HC. We found significantly altered expression between BD patients and HC, but not between BD patients treated with different mood stabilizers. CONCLUSIONS: Our study suggests the involvement of AHI1 in the lithium mode of action. Moreover, mood-stabilizing treatment associated with the innate immunity-related gene expression in BD patients and only the lithium-treated BD patients showed significantly elevated expression of anti-inflammatory IL10, suggesting lithium's immunomodulatory potential.
Assuntos
Transtorno Bipolar , Lítio , Humanos , Lítio/farmacologia , Lítio/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Transtorno Bipolar/genética , Haplótipos , Interleucina-10 , Antimaníacos/uso terapêutico , Compostos de Lítio/farmacologia , Compostos de Lítio/uso terapêuticoRESUMO
Acne vulgaris presents multifactorial pathogenesis, which may include insulin resistance. To investigate whether insulin resistance is a causative factor in acne vulgaris development, this cohort study and a systematic review were conducted. A cohort of 41 acne vulgaris patients and 47 healthy BMI-matched controls were recruited. Glucose and insulin fasting serum levels were obtained and the HOMA-IR was calculated; insulin resistance was diagnosed in cases with a HOMA-IR value over 2.1. The mean ± SD values for glucose fasting serum level were as follows: 94.88 ± 7.731 (mg/dL) in the study group and 79.51 ± 7.175 (mg/dL) in the controls (p < 0.001). The mean ± SD insulin fasting serum levels were 14.47 ± 6.394 (µIU/mL) and 11.83 ± 4.309 (µIU/mL) (p = 0.059), respectively. The HOMA-IR mean ± SD value calculated for the study group was 3.4 ± 1.49 and, in the control group, it was 2.34 ± 0.909 (p < 0.001). Out of 41 patients, 32 were diagnosed with insulin resistance (78%), and 26 of the 47 controls were diagnosed with IR (55%) (p = 0.026). An insulin resistance diagnosis was statistically more common among the acne patients, compared to the controls. In the articles reviewed in this paper, insulin resistance was found to be more frequent in acne vulgaris patients. Both our study and the papers analyzed in the review indicate that insulin resistance might be an independent factor in acne vulgaris development and should be considered when diagnosing and treating acne.
RESUMO
Magnetic resonance imaging (MRI) of the chest is becoming more available in the detection and monitoring of early changes in lung function and structure in patients with cystic fibrosis (CF). The aim of this study was to assess the relationship between pulmonary function tests (PFT) and perfusion deficits in CF children measured by MRI. We performed a retrospective analysis of the perfusion lung MRI scans and the results of spirometry, oscillometry, body plethysmography, single-breath carbon monoxide uptake, and multiple-breath washout technique (MBW). There were statistically significant correlations between the MRI perfusion scores and MBW parameters (2.5% LCI, M1/M0, M2/M0), spirometry parameters (FEV1, FVC, FEF25/75), reactance indices in impulse oscillometry (X5Hz, X10Hz), total lung capacity (TLC) measured in single breath carbon monoxide uptake, markers of air-trapping in body plethysmography (RV, RV/TLC), and the diffusing capacity of the lungs for carbon monoxide. We also observed significant differences in the aforementioned PFT variables between the patient groups divided based on perfusion scores. We noted a correlation between markers of functional lung deficits measured by the MRI and PFTs in CF children. MRI perfusion abnormalities were reflected sooner in the course of the disease than PFT abnormalities.
RESUMO
Aim: Recently, the most commonly used for multiple breath washout device, the Exhalyzer D, has been shown to overestimate lung clearance index (LCI) results due to a software error. Our study aimed to compare the predictive values of LCI in the CF pulmonary exacerbations (PE) calculated with the updated (3.3.1) and the previous (3.2.1) version of the Spiroware software. Materials and Methods: The measurements were performed during 259 visits in CF pediatric patients. We used 39ΔPE pairs (PE preceded by stable visit) and 138ΔS pairs (stable visit preceded by stable visit) to compare the LCI changes during PE. The areas under the receiver operating curves (AUCROC) and odds ratios were calculated based on the differences between ΔPEs and ΔSs. The exacerbation risk was estimated using a logistic regression model with generalized estimating equations (GEE). Results: There were statistically significant differences in LCI 2.5% median values measured using the two versions of the software in the stable condition but not during PE. The AUCROC for changes between the two consecutive visits for LCI did not change significantly using the updated Spiroware software. Conclusions: Despite the lower median values, using the recalculated LCI values does not influence the diagnostic accuracy of this parameter in CF PE.
RESUMO
Apart from the driver mutations, high molecular risk (HMR) variants and other factors have been reported to influence the prognosis of primary myelofibrosis (PMF). The aim of our study was to investigate the impact of laboratory and molecular characteristics at the time of diagnosis (TOD) on the PMF outcome. The study group consisted of 82 patients recruited from three Polish university centers. Among the driver mutations, only CALR type 1 positively influenced the overall survival (OS). The risk of progression to accelerated or blastic disease phase (AP/BP) did not depend on the driver mutation type, but was closely associated with the presence of HMR variants (p = 0.0062). The risk of death (ROD) was higher in patients with HMR variants (OR[95%CI] = 4.33[1.52;12.34], p = 0.0044) and in patients with a platelet count at the TOD between 50-100 G/L (HR[95%CI] = 2.66[1.11;6.35]) and < 50 G/L (HR[95%CI] = 8.44[2.50;28.44]). Median survival time was 7.8, 2.2 and 1.4 years in patients with large unstained cells (LUC) count of [0.0-0.2], (0.2-0.4] and > 0.4 G/L at the TOD, respectively. We found an unexpected, hitherto undescribed, association between LUC count at the TOD and PMF prognosis. Our analysis led to the following conclusions: in PMF patients at the TOD 1) the presence of HMR variants, especially combined, is associated with an increased risk of progression to the AP and BP, and shorter OS, 2) severe thrombocytopenia confers worse prognosis than the moderate one, 3) LUC count is closely related with the disease phase, and associated with the ROD and OS.
Assuntos
Mielofibrose Primária , Trombocitopenia , Humanos , Mielofibrose Primária/diagnóstico , Mielofibrose Primária/genética , Mutação , Prognóstico , Trombocitopenia/genética , Janus Quinase 2/genéticaRESUMO
(1) Background: So far, research results have confirmed the relationship between heat and cold stress, the fluctuations in atmospheric pressure and high relative humidity, and the vulnerability of patients with so-called "weather-dependent" diseases which could lead to death. This study aimed to determine the meteorological parameters, their interactions, and the seasonal changes of the most significant factors in predicting the number of patients reporting to the Emergency Departments (EDs) in Poznan (Poland) during 2019. (2) Methods: The analysis included the meteorological parameters and data of 3606 patients diagnosed with essential or complicated arterial hypertension, myocardial infarction, chronic ischemic heart disease, and ischemic or unspecified stroke by the International Classification of Diseases (ICD-10). The meteorological data (days per week and seasonal data) were used to build a linear regression model to assess the changes in the daily number of reporting patients. The input data for the final model were selected based on the principal component analysis (PCA), and built for each delay and acceleration (reporting up to 3 days before the change or up to 3 days after the change of the meteorological parameter). (3) Results: A significantly lower number of reports was observed during weekends compared to working days (standardised b = -0.254, p-value < 0.0001) and three days before the maximum daily air temperature in the spring and summer period (standardised b = -0.748, p-value < 0.0001), while two days after the increase in the daily amplitude of atmospheric pressure (standardised b = 0.116, p-value = 0.0267), and also on the day of occurrence of the unfavourable interdiurnal air temperature change, an increase in the number of patients was noted (standardised b = 0.115, p-value = 0.0186). The changes in the last two parameters were statistically insignificant. Based on the obtained results, the negative impact of the changes in the meteorological conditions on the number of reports to the EDs in Poznan was determined.
Assuntos
Doenças Cardiovasculares , Humanos , Estações do Ano , Doenças Cardiovasculares/epidemiologia , Projetos Piloto , Tempo (Meteorologia) , Temperatura , Serviço Hospitalar de Emergência , Hospitais , Conceitos MeteorológicosRESUMO
Introduction: Acute lymphoblastic leukemia (ALL) and lymphomas affect both pediatric and adult populations, therefore, they might be treated by pediatric or adult centers.It has been proven that the prognosis among adolescents and young adults (AYA) is poorer than among children, which remains a subject of research. Many factors are suspected to affect the diagnostic and treatment processes in adolescents and young adults, one of them being the organization of the healthcare system.The aimof the studywas to compare the time intervals between different events on disease trajectory in pediatric and AYA groups suffering from ALL and lymphomas. Methods: We collected data on 81 patients diagnosed with ALL (50 children and 31 AYAs) and 100 patients diagnosed with lymphomas (50 children and 50 AYAs). Statistical analysis was performed in order to compare the groups. Results: The results confirmed the hypothesis that the duration of the diagnostic process differs significantly between groups. For patients with ALL, the analyzed time intervals were significantly shorter in the pediatric group than in the AYA group: first contact with a GP - admission to Hematology Department (2 vs. 5 days; pvalue= 0.004), first contact with a GP - treatment (6 vs. 12 days, p-value=0.001), diagnosis - treatment (1 vs. 3 days, p-value=0.003). In the case of patients suffering from lymphomas, the results were similar. The analyzed time intervals were significantly shorter in the pediatric group than in the AYA group: first contact with a GP- diagnosis (21 vs. 40.5 days, p-value<0.0001), first contact with a GP - treatment (27 vs. 65 days, p-value<0.0001). Trend analysis showed that the longer patients had presented symptoms before contacting the primary care physician, the longer they waited for the beginning of treatment both in ALL and lymphomas groups (p-values=0.0129 and 0.0038 respectively). Discussion: As the diagnostic and treatment processes are longer for AYA patients, actions must be undertaken in order to ensure equality and improve the healthcare system in Poland and possibly other countries.
RESUMO
INTRODUCTION: Despite comparatively favourable prognosis in polycythemia vera (PV) patients (pts), the overall survival is shorter compared to the age-matched general population. The aim of the study was to evaluate the impact of chosen laboratory and genetic factors on the individual disease outcome, i.e. risk of thrombosis, myelofibrosis/blastic transformation and death. MATERIALS AND METHODS: The study group consisted of 151 pts and 57 healthy donors (HD). RESULTS: JAK2V617F mutation was found in 96.7% (146/151) of the studied pts. JAK2 exon 12 mutations were identified in 2 individuals. The coexistence of JAK2V617F and JAK2 exon 12 mutation was confirmed in 2 other pts. In one case, neither JAK2V617F nor JAK2 exon 12 mutation was found. The presence of ten different non-driver mutations (ASXL1, SRSF2, U2AF1, IDH2) in eight of the analyzed pts (5.3%) was confirmed. The overall frequency of thrombotic events (TE) in the studied PV group was 23.8% (36/151). In patients with TE, median platelet count was lower than in pts without TE. Thrombotic risk did not depend on JAK2 rs12343867, TERT rs2736100, OBFC1 rs9420907 SNV, however, we found a novel strong tendency towards statistical significance between the CC genotype miR-146a rs2431697 and thrombosis. The disease progression to fibrotic phase was confirmed in 9% of the pts. Fibrotic transformation in PV pts was affected mainly by JAK2V617F variant allele frequency (VAF) and the presence of coexisting non-driver variants. The high JAK2V617F VAF and elevated white blood cell (WBC) count at the time of diagnosis were associated with an increased risk of death. CONCLUSION: Therefore, in our opinion, complex, laboratory and genetic PV pts evaluation at the time of diagnosis should be incorporated into a new prognostic scoring system to more precisely define the PV prognosis and to optimize the therapeutic decision-making process.
Assuntos
Policitemia Vera , Trombose , Humanos , Policitemia Vera/genética , Policitemia Vera/diagnóstico , Policitemia Vera/tratamento farmacológico , Trombose/genética , Janus Quinase 2/genética , Mutação , Frequência do Gene , Nucleotídeos/uso terapêuticoRESUMO
Introduction: Acne vulgaris is one of the most common dermatological diseases. Hormonal imbalance affects the skin condition and results in the formation of acne vulgaris lesions. Aim: To evaluate serum levels of testosterone, prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), triglycerides (TG), and high-density lipoprotein (HDL) in patients with acne vulgaris and compare them to healthy population. Material and methods: Forty-one patients with acne vulgaris and 47 age- and body mass index (BMI)-matched controls were enrolled in the study. Results: The mean ± SD testosterone serum level in the study group was 0.45 ±1.03 ng/ml in females and 4.24 ±0.68 in males and in the control group 0.73 ±2.03 ng/ml and 5.3 ±1.3 ng/ml in females and males, respectively. The prolactin serum level was 16.73 ±8.02 ng/ml in the study group and in the control group 13.74 ±8.71 ng/ml (p = 0.011). The FSH serum level was 12.17 ±16.93 mIU/ml and 6.2 ±7.3 mIU/ml in the study and control groups, respectively (p = 0.0001), whereas LH serum levels were 18.44 ±19.71 mIU/ml and 11.26 ±8 mIU/ml, respectively (p = 0.2659). The HDL serum level was 65.63 ±15.67 mg/dl in the study group and 61.53 ±15.89 mg/dl in the control group (p = 0.219), and TG levels were 175.29 ±82.15 mg/dl and 87.32 ±30.64 mg/dl, respectively (p < 0.00001). Conclusions: Our study demonstrates, that hormonal and lipid imbalance could be linked to acne vulgaris formation. Evaluation of hormonal and lipid abnormalities could help in treatment decisions and could affect the occurrence of complications and the course of acne.
RESUMO
PURPOSE: The aim of the study was to ascertain the risk factors of local recurrence in primary basal cell carcinoma of the head and neck Material and methods: A retrospective analysis of 545 patients with head and neck primary basal cell carcinoma treated in years 2008 - 2018 was done. The following data was recorded: age, sex, tumor site, histological subtype, greatest dimension, margin status, experience of operating surgeon and local recurrence Results: Most of the tumors were located nose (165; 30,2%) and auricle (119; 21,8%). The most common pathological subtype was nodular (119; 21,8%). Three hundred and ninety-four tumors (72,2%) were under 20mm in diameter. Positive surgical margins were noted in 107 (19,6%) cases. Local recurrence was observed in 52 (9,5%) cases, of which 29 (29/107; 27%) had positive surgical margins, in 23 (23/438; 5,2%) cases margins were free, which was the only statistically significant factor (p<0,001; OR 6,71; CI 3,69 - 12,2). CONCLUSIONS: The results of our study have shown that positive surgical margin remains the strongest risk factor for local recurrence. With surgical excision being the gold standard of treatment the greatest emphasis should be placed on avoiding such scenario in high risk patients.
Assuntos
Carcinoma Basocelular , Neoplasias de Cabeça e Pescoço , Neoplasias Cutâneas , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/cirurgia , Neoplasias de Cabeça e Pescoço/epidemiologia , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Margens de Excisão , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaRESUMO
The need to search for new measures describing the classification of a logistic regression model stems from the difficulty in searching for previously unknown factors that predict the occurrence of a disease. A classification quality assessment can be performed by testing the change in the area under the receiver operating characteristic curve (AUC). Another approach is to use the Net Reclassification Improvement (NRI), which is based on a comparison between the predicted risk, determined on the basis of the basic model, and the predicted risk that comes from the model enriched with an additional factor. In this paper, we draw attention to Cohen's Kappa coefficient, which examines the actual agreement in the correction of a random agreement. We proposed to extend this coefficient so that it may be used to detect the quality of a logistic regression model reclassification. The results provided by Kappa's reclassification were compared with the results obtained using NRI. The random variables' distribution attached to the model on the classification change, measured by NRI, Kappa, and AUC, was presented. A simulation study was conducted on the basis of a cohort containing 3971 Poles obtained during the implementation of a lower limb atherosclerosis prevention program.