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1.
Comput Biol Med ; 172: 108267, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38479197

RESUMO

Early detection of colon adenomatous polyps is pivotal in reducing colon cancer risk. In this context, accurately distinguishing between adenomatous polyp subtypes, especially tubular and tubulovillous, from hyperplastic variants is crucial. This study introduces a cutting-edge computer-aided diagnosis system optimized for this task. Our system employs advanced Supervised Contrastive learning to ensure precise classification of colon histopathology images. Significantly, we have integrated the Big Transfer model, which has gained prominence for its exemplary adaptability to visual tasks in medical imaging. Our novel approach discerns between in-class and out-of-class images, thereby elevating its discriminatory power for polyp subtypes. We validated our system using two datasets: a specially curated one and the publicly accessible UniToPatho dataset. The results reveal that our model markedly surpasses traditional deep convolutional neural networks, registering classification accuracies of 87.1% and 70.3% for the custom and UniToPatho datasets, respectively. Such results emphasize the transformative potential of our model in polyp classification endeavors.


Assuntos
Pólipos Adenomatosos , Pólipos do Colo , Humanos , Pólipos do Colo/diagnóstico por imagem , Redes Neurais de Computação , Diagnóstico por Computador/métodos , Diagnóstico por Imagem
2.
Sci Adv ; 10(6): eadk3384, 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38335290

RESUMO

Disruption of cell division cycle associated 7 (CDCA7) has been linked to aberrant DNA hypomethylation, but the impact of DNA methylation loss on transcription has not been investigated. Here, we show that CDCA7 is critical for maintaining global DNA methylation levels across multiple tissues in vivo. A pathogenic Cdca7 missense variant leads to the formation of large, aberrantly hypomethylated domains overlapping with the B genomic compartment but without affecting the deposition of H3K9 trimethylation (H3K9me3). CDCA7-associated aberrant DNA hypomethylation translated to localized, tissue-specific transcriptional dysregulation that affected large gene clusters. In the brain, we identify CDCA7 as a transcriptional repressor and epigenetic regulator of clustered protocadherin isoform choice. Increased protocadherin isoform expression frequency is accompanied by DNA methylation loss, gain of H3K4 trimethylation (H3K4me3), and increased binding of the transcriptional regulator CCCTC-binding factor (CTCF). Overall, our in vivo work identifies a key role for CDCA7 in safeguarding tissue-specific expression of gene clusters via the DNA methylation pathway.


Assuntos
Proteínas de Ciclo Celular , Proteínas Nucleares , DNA , Metilação de DNA , Isoformas de Proteínas/genética , Proteínas Repressoras/genética , Fatores de Transcrição/genética , Animais , Camundongos , Proteínas de Ciclo Celular/metabolismo , Proteínas Nucleares/metabolismo
3.
Clin Investig Arterioscler ; 36(2): 51-59, 2024.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37858436

RESUMO

BACKGROUND: The aim of this study was to investigate presence of subclinical atherosclerosis by measuring carotid intima-media thickness (CIMT) in patients with Helicobacter pylori (HP) and to assess effects of HP on atherosclerosis by evaluating markers of atherosclerosis and blood growth differentiation factor (GDF-15) levels. MATERIALS AND METHODS: This cross-sectional study included 59 patients without comorbid disease who had HP and 30 healthy controls without HP in upper endoscopic biopsy. In order to assess atherosclerosis, the CIMT measurement was performed by sonography. Serum GDF-15 level was measured by ELISA method. In all patients, atherosclerosis markers were recorded. Atherogenic indices were calculated, including Castelli risk index I and II (TG/HDL-c and LDL-c/HDL-c, respectively), plasma atherogenic index (PAI; log TG/HDL-c), non-HDL-c (TH-HDL-c) and atherogenic coefficient (AC; non-HDL-HDL-c). RESULTS: The GDF-15 level and CIMT were significantly higher in HP-positive group when compared to HP-negative group (p≤0.001). There was a significant correlation between serum GDF-15 level and CIMT (r=0.445; p≤0.001). There was no correlation between other atherosclerosis markers and serum GDF-15 level or CIMT. The bacterial intensity on endoscopic specimen was only correlated with CIMT (p<0.001). Vitamin B12 and D levels were comparable among groups. CONCLUSION: This study suggested that there was a correlation between GDF-15 level and subclinical atherosclerosis development in patients with HP. However, GDF-15 level, which was found to be elevated while atherogenic indices were normal, can be an earlier marker for subclinical atherosclerosis.


Assuntos
Aterosclerose , Infecções por Helicobacter , Helicobacter pylori , Adulto , Humanos , Aterosclerose/epidemiologia , Aterosclerose/etiologia , Espessura Intima-Media Carotídea , Estudos Transversais , Fator 15 de Diferenciação de Crescimento/química , Fator 15 de Diferenciação de Crescimento/metabolismo , Infecções por Helicobacter/complicações , Fatores de Risco
4.
Stem Cell Reports ; 18(7): 1534-1546, 2023 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-37437546

RESUMO

Hematopoietic stem cells (HSCs) guarantee the continuous supply of all blood lineages during life. In response to stress, HSCs are capable of extensive proliferative expansion, whereas in steady state, HSCs largely remain in a quiescent state to prevent their exhaustion. DNA replication is a very complex process, where many factors need to exert their functions in a perfectly concerted manner. Mini-chromosome-maintenance protein 10 (Mcm10) is an important replication factor, required for proper assembly of the eukaryotic replication fork. In this report, we use zebrafish to study the role of mcm10 during embryonic development, and we show that mcm10 specifically regulates HSC emergence from the hemogenic endothelium. We demonstrate that mcm10-deficient embryos present an accumulation of DNA damages in nascent HSCs, inducing their apoptosis. This phenotype can be rescued by knocking down p53. Taken all together, our results show that mcm10 plays an important role in the emergence of definitive hematopoiesis.


Assuntos
Hemangioblastos , Proteínas de Manutenção de Minicromossomo , Proteínas de Peixe-Zebra , Peixe-Zebra , Animais , Feminino , Apoptose/genética , Proteínas de Ciclo Celular , Células-Tronco Hematopoéticas
5.
Cureus ; 15(3): e36450, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37090351

RESUMO

AIM: The objective of this study was to determine whether penile Doppler ultrasonography (USG) examinations, combined with the administration of intracavernosal vasoactive agents, were correctly performed as a second-line diagnostic method with the proper indications in a select patient group. METHODS: A total of 200 patients who underwent penile Doppler ultrasounds in our clinic were included in the study. Patients' demographic data were collected, information about their medical-sexual history was taken, physical examinations were performed, and laboratory analyses were conducted. Patients were informed in detail about the process, and their consent was given prior to the study. Procedure outcomes and complications were also recorded. The relationship of vasculogenic pathologies was analysed, and the rate of abnormal results and complications was compared with the existing literature. RESULTS: Following the investigations, abnormal results were found in 24.5% of patients, while this rate was 6.8% in patients under the age of 40. Arterial insufficiency was found in 31 patients and venous insufficiency in 18 patients. Five patients had both pathologic conditions. No statistically significant correlation was found between arterial insufficiency and age, while venous insufficiency was significantly correlated with age (p=0.006). CONCLUSION: Penile Doppler ultrasounds should only be ordered for a carefully selected patient group. Ordering ultrasounds without a proper indication can result in unnecessary labour and financial loss, as well as an increase in invasive procedures.

6.
Comput Methods Programs Biomed ; 232: 107441, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36905748

RESUMO

BACKGROUND AND OBJECTIVE: Early detection of colon adenomatous polyps is critically important because correct detection of it significantly reduces the potential of developing colon cancers in the future. The key challenge in the detection of adenomatous polyps is differentiating it from its visually similar counterpart, non-adenomatous tissues. Currently, it solely depends on the experience of the pathologist. To assist the pathologists, the objective of this work is to provide a novel non-knowledge-based Clinical Decision Support System (CDSS) for improved detection of adenomatous polyps on colon histopathology images. METHODS: The domain shift problem arises when the train and test data are coming from different distributions of diverse settings and unequal color levels. This problem, which can be tackled by stain normalization techniques, restricts the machine learning models to attain higher classification accuracies. In this work, the proposed method integrates stain normalization techniques with ensemble of competitively accurate, scalable and robust variants of CNNs, ConvNexts. The improvement is empirically analyzed for five widely employed stain normalization techniques. The classification performance of the proposed method is evaluated on three datasets comprising more than 10k colon histopathology images. RESULTS: The comprehensive experiments demonstrate that the proposed method outperforms the state-of-the-art deep convolutional neural network based models by attaining 95% classification accuracy on the curated dataset, and 91.1% and 90% on EBHI and UniToPatho public datasets, respectively. CONCLUSIONS: These results show that the proposed method can accurately classify colon adenomatous polyps on histopathology images. It retains remarkable performance scores even for different datasets coming from different distributions. This indicates that the model has a notable generalization ability.


Assuntos
Pólipos Adenomatosos , Pólipos do Colo , Humanos , Pólipos do Colo/diagnóstico por imagem , Corantes , Redes Neurais de Computação , Aprendizado de Máquina
7.
Urol Int ; 107(1): 35-45, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-34515257

RESUMO

INTRODUCTION: Guideline recommendations are meant to help minimize morbidity and to improve the care of nonmuscle invasive bladder cancer (NMIBC) patients but studies have suggested an underuse of guideline-recommended care. The aim of this study was to evaluate the level of adherence of German and Austrian urologists to German guideline recommendations. METHODS: A survey of 27 items evaluating diagnostic and therapeutic recommendations (15 cases of strong consensus and 6 cases of consensus) for NMIBC was administered among 14 urologic training courses. Survey construction and realization followed the checklist for reporting results of internet e-surveys and was approved by an internal review board. RESULTS: Between January 2018 and June 2019, a total of 307 urologists responded to the questionnaire, with a mean response rate of 71%. The data showed a weak role of urine cytology (54%) for initial diagnostics although it is strongly recommended by the guideline. The most frequently used supporting diagnostic tool during transurethral resection of the bladder was hexaminolevulinate (95%). Contrary to the guideline recommendation, 38% of the participants performed a second resection in the case of pTa low-grade NMIBC. Correct monitoring of Bacille Calmette-Guérin (BCG) response with cystoscopy and cytology was performed by only 34% of the urologists. CONCLUSIONS: We found a discrepancy between certain guideline recommendations and daily routine practice concerning the use of urine cytology for initial diagnostics, instillation therapy with a low monitoring rate of BCG response, and follow-up care with unnecessary second resection after pTa low-grade NMIBC in particular. Our survey showed a moderate overall adherence rate of 73%. These results demonstrate the need for sharpening awareness of German guideline recommendations by promoting more intense education of urologists to optimize NMIBC care thus decreasing morbidity and mortality rates.


Assuntos
Neoplasias da Bexiga Urinária , Urologia , Humanos , Vacina BCG/uso terapêutico , Neoplasias da Bexiga Urinária/cirurgia , Bexiga Urinária , Inquéritos e Questionários , Administração Intravesical , Invasividade Neoplásica , Recidiva Local de Neoplasia/tratamento farmacológico
8.
Immunol Invest ; 51(7): 1965-1974, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35763308

RESUMO

Patients immune phenotype/genotype data may be useful to understand the molecular mechanisms involved in SARS-CoV-2 infection and can contribute to the identify the different levels of disease severity. The roles of chemokines have been reported in the coronavirus-related diseases SARS and MERS and they may likewise play a critical role in the development of the symptoms of COVID-19 disease. We analyzed the association of the MCP-1-A2518 G, SDF-1-3'A, CCR5-delta32, CCR5-A55029 G, CXCR4-C138T and CCR2-V64I gene polymorphisms with COVID-19 severity to further unveil the immunological pathways leading to disease severity and death. Polymerase chain reaction(PCR)/Sanger sequencing analysis was performed for detection of the variations in 60 asymptomatic and 119 severe COVID-19 patients. In our study, we found that the frequencies of MCP-1 of GA genotype and G allele carriers were significantly higher in severe COVID-19 patients than the asymptomatic COVID-19 patients (p < .0001 and p: .005, respectively). However, no significant association was found for any of the other polymorphisms with the severity of COVID-19. Our findings suggest that there is a positive association between MCP-1-A2518 G gene variants with the severity of COVID-19. However, larger studies in different population which will focus on gene expression levels will help us to understand the capability of the mechanism role.


Assuntos
COVID-19 , Infecções por HIV , COVID-19/genética , Quimiocina CXCL12/genética , Frequência do Gene , Genótipo , Humanos , Receptores CCR2/genética , Receptores CCR5/genética , SARS-CoV-2 , Índice de Gravidade de Doença
9.
Am J Emerg Med ; 58: 33-38, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35623181

RESUMO

INTRODUCTION: Twitter may be used in disseminating scientific information that can be measured via citations by traditional systems. We aimed to investigate the relationship between Twitter mentions, traditional citations including Google Scholar and Scopus, and the metric value of Altmetric for articles published in emergency medicine journals. METHODS: Articles published in emergency medicine journals between January 2018 and June 2018 were retrospectively analyzed in February 2021. Journals included with an impact factor of >1 and indexed in Q1. Metric data about citations in Google Scholar and Scopus, the metric value of the Altmetric system, and Twitter mentions were obtained. RESULTS: There were 502 articles published in different seven emergency medicine journals. Fifty-four articles (10.8%) were never cited in Google Scholar or Scopus. There were 79 articles (15.7%) without Twitter mention. Twitter mentions as a tweet or no tweet impacted the number of articles with citation (p > 0.05). The number of citations per article was significantly higher in articles with Twitter mentions (p = 0.002 for Google Scholar citations, p = 0.005 for Scopus citations). Altmetric cited articles were significantly higher for articles with Twitter mentions (p < 0.001). There were significant positive correlations between the number of Twitter mentions and citations in Scopus (r = 0.30, p < 0.001), in both Google Scholar and Scopus (r = 0.19, p < 0.001), and in Altmetrics (r = 0.852, p < 0.001). CONCLUSION: There were positive correlations between numbers of Twitter mentions, traditional citations, including Google Scholar and Scopus, and metric values of the Altmetric system. This finding supports that increased social media citations are associated with increased dissemination and disclosure of publications.


Assuntos
Medicina de Emergência , Publicações Periódicas como Assunto , Mídias Sociais , Humanos , Fator de Impacto de Revistas , Estudos Retrospectivos
10.
Am J Emerg Med ; 56: 71-76, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35367682

RESUMO

BACKGROUNDS: Acute cardiogenic pulmonary edema (ACPE), one of the outcomes of acute heart failure (AHF), is a common reason in a critical condition with respiratory distress. Non-invasive synchronized intermittent mandatory ventilation(nSIMV) mode, which includes inspiratory pressure in addition to positive end expiratory pressure with/without pressure support provided in the non-invasive continuous positive airway pressure plus/pressure support(nCPAP/PS) mode can be effective in hypercarbia and the associated changes in consciousness. This study aimed to demonstrate the efficacy of nSIMV in ACPE. METHODS: Patients who presented with clinical acute respiratory failure and were admitted to the critical care unit of the emergency department with the diagnosis of ACPE were included. Patients were placed on non-invasive mechanical ventilators with an oronasal mask under the nCPAP/PS and nSIMV modes. Pulse and respiratory rate, systolic and diastolic blood pressure and Glasgow Coma Scores(GCS), HACOR(heart rate, acidosis, consciousness, oxygenation and respiratory rate) scores, pH, PaCO2, PaO2/FiO2 and lactate at the time of admission and at 30 and 60 min were evaluated. RESULTS: Twenty-two patients were recruited, nCPAP/PS mode was 10 and nSIMV mode was 12. Although there was no statistically significant difference between the two groups in terms of the change in the relevant parameters from admission to 60 min, the decreases in PaCO2 and lactate levels (31.4% vs. 21.2%, p = 0.383; 68.8% vs. 47.1%, p = 0.224; respectively) and the increase in PaO2 and PaO2/FiO2 values (34% vs. 14.2%, p = 0.710 and 132.1% vs. 52.7%, p = 0.073; respectively) were higher in the nSIMV group. CONCLUSION: The nSIMV mode is as effective as the nCPAP/PS mode in the treatment of patients with ACPE. We believe that the nSIMV mode can be preferable, particularly in patients with hypercarbia who have relatively lower GCS and oxygenation.


Assuntos
Ventilação não Invasiva , Edema Pulmonar , Síndrome do Desconforto Respiratório , Pressão Positiva Contínua nas Vias Aéreas , Humanos , Hipercapnia , Ventilação com Pressão Positiva Intermitente , Lactatos , Edema Pulmonar/terapia
11.
Cureus ; 14(3): e23278, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35449627

RESUMO

OBJECTIVE: This study aims to compare the efficacy and complications between mesh obtained from the autologous rectus fascia and synthetic mesh used in transobturator tape procedure in the surgical treatment of urinary stress incontinence. METHODS: A total of 62 female patients who underwent operation due to urinary stress incontinence were included in the study. From these, 31 patients underwent autologous rectus fascia with mid-urethral sling (Group 1), and the remaining 31 patients underwent the same operation using synthetic multilaminar propylene sling (Group 2). The groups were compared preoperative and postoperative according to results of Urogenital Distress Inventory-Short Form (UDI-6) and Incontinence Impact Questionnaire-Short Form (IIQ-7). Demographic characteristics, surgical features, and complications were also compared between the groups. P < 0.05 values were considered statistically significant. RESULTS: The mean age was found as 54.74 ± 0.87 in Group 1 and 55.58 ± 0.76 in Group 2. There was no significant difference between the groups in terms of the preoperative and postoperative UDI-6 results ​​(p=0.258, p=0.349). Similarly, the preoperative and postoperative IIQ-7 results did not show a significant difference between the groups (p=0,483, p=0,367). There was also no significant difference in demographic characteristics and complications between the groups. Only the mean operational time was significantly longer in Group 1 (p=0.029). CONCLUSION: Transobturator tape procedure with autologous rectus fascia is as effective and safe as synthetic mesh. This procedure provides an inexpensive and consumable option without posing a risk of mesh erosion and with low complication rates.

12.
Cureus ; 14(2): e22030, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35282527

RESUMO

Objective This study aims to compare the results and patient satisfaction scores between uroflowmetry performed under the patient's control and assistant-supervised conventional uroflowmetry. Methods A total of 120 patients who had previous experience with uroflowmetry were included in the study. Patients were evaluated in two even groups of 60 patients each - those not receiving medical treatment (group 1) and those receiving medical treatment (group 2). Maximum flow rate (Qmax), average flow rate (Qave), voided volume, voiding time, post-void residual volume (PVR), and patient satisfaction survey scores were compared between the two separate uroflowmetry methods. Results There was a significant difference between assistant-supervised and self-conducted uroflowmetry in terms of Qmax, Qave, voiding time, and patient satisfaction scores. While comparing all patients, no significant difference was found in terms of PVR and voiding volume values. There was a significant difference in Qave, Qmax, PVR, and voiding time in both assistant-supervised and self-conducted uroflowmetry. As for voided volume, there was no significant difference between the groups in either procedure. When groups were evaluated within themselves, in group 1, there was a significant difference in voided volume, Qave, and PVR, while there was no significant difference in Qmax and voiding time. In Group 2, there was a significant difference in voided volume, Qave, and PVR, although there was no significant difference in Qmax and voiding time. Conclusion Maximum urine flow rate and mean urine flow rate measured by self-conducted uroflowmetry are higher than assistant-supervised (conventional) uroflowmetry, which can ensure patient privacy.

13.
Mol Biol Rep ; 48(6): 5181-5186, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34215992

RESUMO

Human gene F5, encoding coagulation factor V, was previously reported to be highly polymorphic. Apart from FV Leiden, several other rare variants have been detected in clinical practice and associated with thrombotic events, especially in cases when patient's phenotype and FV Leiden genotype were not in agreement. In this study, the prevalence of 17 rare F5 variants has been studied on a sample of 130 healthy adult individuals from the general Bosnian-Herzegovinian population. DNA was isolated from buccal swab samples, while genotyping was performed using MALDI-TOF MS method. The results have shown that Asp2194Gly and Met2120Thr are polymorphic in the study population with minor allele frequencies of 0.077 and 0.073, respectively. Additionally, these two variants were mutually exclusive with FV Leiden and none of them was positively associated with participants' family history of cardiovascular or cerebrovascular diseases. While the obtained results are in agreement with previously reported data for the general Caucasian populations, it is worth noting that only two rare F5 variants were detected in the study population, albeit at considerable frequencies. Still, scientific information on rare F5 variants is rather scarce and further studies aiming to assess functional importance of these variants, as well as their role as prothrombotic factors are necessary.


Assuntos
Fator V/genética , Adulto , Bósnia e Herzegóvina/epidemiologia , DNA/genética , Fator V/metabolismo , Feminino , Variação Genética/genética , Genótipo , Voluntários Saudáveis , Humanos , Masculino , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único/genética , Prevalência
14.
Front Genet ; 12: 671467, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34178033

RESUMO

Human Y-chromosomal haplogroups are an important tool used in population genetics and forensic genetics. A conventional method used for Y haplogroup assignment is based on a set of Y-single nucleotide polymorphism (SNP) markers deployed, which exploits the low mutation rate nature of these markers. Y chromosome haplogroups can be successfully predicted from Y-short tandem repeat (STR) markers using different software packages, and this method gained much attention recently due to its labor-, time-, and cost-effectiveness. The present study was based on the analysis of a total of 480 adult male buccal swab samples collected from different regions of Bosnia and Herzegovina. Y haplogroup prediction was performed using Whit Athey's Haplogroup Predictor, based on haplotype data on 23 Y-STR markers contained within the PowerPlex® Y23 kit. The results revealed the existence of 14 different haplogroups, with I2a, R1a, and E1b1b being the most prevalent with frequencies of 43.13, 14.79, and 14.58%, respectively. Compared to the previously published studies on Bosnian-Herzegovinian population based on Y-SNP and Y-STR data, this study represents an upgrade of molecular genetic data with a significantly larger number of samples, thus offering more accurate results and higher probability of detecting rare haplogroups.

15.
Forensic Sci Int Genet ; 53: 102528, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34020230

RESUMO

The Southwest Asian, circum-Mediterranean, and Southern European populations (collectively, SWAMSE) together with Northern European populations form one of five "continental" groups of global populations in many analyses of population relationships. This region is of great anthropologic and forensic interest but relationships of large numbers of populations within the region have not been able to be cleanly resolved with autosomal genetic markers. To examine the genetic boundaries to the SWAMSE region and whether internal structure can be detected we have assembled data for a total of 151 separate autosomal genetic markers on populations in this region and other parts of the world for a global set of 95 populations. The markers include 83 ancestry informative SNPs as singletons and 68 microhaplotype loci defined by 204 SNPs. The 151 loci are ancestry informative on a global scale, identifying at least five biogeographic clusters. One of those clusters is a clear grouping of 37 populations containing the SWAMSE plus northern European populations to the exclusion of populations in South Central Asia and populations from farther East. A refined analysis of the 37 populations shows the northern European populations clustering separately from the SWAMSE populations. Within Southwest Asia the Samaritans and Shabaks are distinct outliers. The Yemenite Jews, Saudi, Kuwaiti, Palestinian Arabs, and Southern Tunisians cluster together loosely while the remaining populations from Northern Iraq, Mediterranean Europe, the Caucasus region, and Iran cluster in a more complex graded fashion. The majority of the SWAMSE populations from the mainland of Southwest Asia form a cluster with little internal structure reflecting a very complex history of endogamy and migrations. The set of 151 DNA polymorphisms not only distinguishes major geographical regions globally but can distinguish ancestry to a small degree within geographical regions such as SWAMSE. We discuss forensic characteristics of the polymorphisms and also identify those that rank highest by Rosenberg's In measure for the SWAMSE region populations and for the global set of populations analyzed. DATA AVAILABILITY: Genotypes on all 151 markers for all 3790 individuals typed in the Kidd Lab on the 72 Kidd lab populations have been deposited in the Zenodo archive and can be freely accessed at https://doi.org/10.5281/zenodo.4658892. Some of the data has been made public previously as supplemental files appended to publications. Data for the additional individuals included in the analyses was taken from already public datasets as indicated in the text.


Assuntos
Etnicidade/genética , Genética Populacional , Polimorfismo de Nucleotídeo Único , Ásia , Haplótipos , Humanos , Região do Mediterrâneo , Análise de Componente Principal , Grupos Raciais/genética
16.
Int J Clin Pract ; 75(8): e14293, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33930234

RESUMO

AIM: Extracorporeal shockwave lithotripsy is a commonly used method to break down kidney stones in urology clinics. This study aims to investigate whether or not listening to music is effective against state anxiety in patients undergoing kidney stone treatment with this method. METHODS: A total of 80 patients (50 males, 30 females) undergoing extracorporeal shockwave lithotripsy for the first time at our clinic were included in the study. The first group (24 patients) listened to instrumental classical music through headphones 20 minutes before the procedure, while the second group (28 patients) listened to instrumental classical music during the procedure. The third group (28 patients) was the control group and consisted of patients who did not listen to music before or during the procedure. Patients were administered a state-trait anxiety inventory test to measure state anxiety after the process, and their results were compared. RESULTS: While there was a significant difference in state-trait anxiety inventory scores between patients who listened to music before/during the procedure and the control group, there was no significant difference between patients who listened to music before and those who listened to music during the procedure. Assessment of randomisation showed groups achieved homogeneity. CONCLUSION: Among the groups homogeneously distributed according to age and gender, significantly lower anxiety scores of groups that listened to music compared with the control group have provided supporting data to be open-minded and exploratory about increasing patient tolerability and comfort during these potentially pain-inducing procedures.


Assuntos
Litotripsia , Musicoterapia , Música , Ansiedade/etiologia , Feminino , Humanos , Litotripsia/efeitos adversos , Masculino , Dor
17.
Arch Ital Urol Androl ; 93(1): 31-34, 2021 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-33754606

RESUMO

AIM: To investigate incidental prostate cancer (IPCa) rate and to determine prostate specific antigen (PSA) cut-off value indicating PCa in patients who underwent surgery by being diagnosed with benign prostatic hyperplasia (BPH) clinically or by standard prostate biopsy. METHODS: Data of 317 patients, who underwent transurethral resection of the prostate (TURP) or open prostatectomy (OP) with pre-diagnosis of BPH, were evaluated retrospectively. The examined parameters included patients' demographics, preoperative serum PSA values, digital rectal examination (DRE) findings, surgical method, histopathological findings and Gleason Scores. RESULTS: A total of 317 patients were included the study. The median age of patients was 69 years (min: 51-max: 79) and the median PSA value was 3.24 ng/dl (min: 0.17-max: 34.9). In 21 patients (6.6%); DRE findings were in favor of malignancy, but prostate biopsy resulted as BPH. While 281 (88.6%) of the patients underwent TURP, 36 (11.4%) underwent open prostatectomy. PCa was detected in 21 (6.6%) patients. PSA was statistically higher in patients who underwent OP compared to patient who underwent TUR-P, 5.9 (min: 1.2 - max: 27.6, IR: 8.7) vs. 2.8 (min: 0.1-max: 34.9, IR: 4.2) ng/dl, p < .001. The rate of IPCa among four PSA group was similar (p = 0.46). There was no difference between the rate of IPCa in patients younger and older than 70 years, (p = 0.11). Please change whole sentence as 'The median PSA level was slightly higher in patients diagnosed with BPH compared to patients diagnosed with IPCa, 3.2 (min: 0.1-max: 34.9) vs. 2.7 (min: 0.3-max: 26.5) ng/dL, p = 0.9. CONCLUSIONS: IPCa still remains an important clinical problem. We were not able to find any correlation of PSA and age with incidental PCa.


Assuntos
Achados Incidentais , Antígeno Prostático Específico/sangue , Prostatectomia , Hiperplasia Prostática/sangue , Hiperplasia Prostática/cirurgia , Neoplasias da Próstata/sangue , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Prostatectomia/métodos , Estudos Retrospectivos
18.
Genet Test Mol Biomarkers ; 25(1): 55-58, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33470888

RESUMO

Background: The human angiotensin I converting enzyme 1 (ACE1) gene insertion/deletion (I/D) polymorphism is classified based on the presence or absence of a 287 bp Alu sequence. The ACE1 D allele is associated with higher ACE1 concentrations in tissues. Previous research has shown that susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is primarily determined by the affinity between the viral receptor-binding domain and the host human receptor angiotensin-converting enzyme 2 (hACE2) receptor. In the human genome, ACE2 is identified as a homolog to ACE1. Objective: The purpose of this study was to characterize the ACE1 D allele distribution in Bosnia and Herzegovina (B&H), so as to compare it to population data from other European countries and to investigate the potential correlation between D allele frequencies and coronavirus disease 2019 (COVID-19) epidemiological findings in selected European populations. Methods: The ACE1 D allele frequencies in 18 selected European populations were analyzed and compared with COVID-19 prevalence, mortality, and severity using multivariate linear regression analysis. Results and Discussion: The ACE1 D allele distribution within the B&H population was similar to its distribution in other European populations. Regression analysis showed no significant correlation between the D allele frequency and the incidence of infections between the examined populations, nor with the rates of fatality and severe cases. Conclusion: There is no clear statistical evidence that the ACE1 D allele is associated with increased or decreased COVID-19 incidence, mortality, and case severity within the investigated populations.


Assuntos
COVID-19/epidemiologia , Frequência do Gene , Predisposição Genética para Doença , Peptidil Dipeptidase A/genética , Alelos , Elementos Alu/genética , COVID-19/diagnóstico , COVID-19/genética , COVID-19/virologia , Europa (Continente)/epidemiologia , Geografia , Humanos , Mutação INDEL , Incidência , Polimorfismo Genético , SARS-CoV-2/isolamento & purificação , Índice de Gravidade de Doença
19.
Pediatr Emerg Care ; 37(4): e163-e169, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30907845

RESUMO

OBJECTIVE: Studies related to the epidemiology of trauma play a major role in determining the health status of the communities living in the vicinity of the centers that they are conducted. We have found no epidemiological study related to emergency service admission conducted only on preschool-aged children in the literature. Our aim was to determine characteristics of trauma in this age group, to analyze encountered trauma types, and to investigate possible associations among epidemiological factors, characteristics of the trauma victims, and trauma itself in pediatric patients admitted to our emergency service. METHODS: We conducted a prospective study with patients aged 66 months and younger, admitted to Emergency Service of Istanbul Kanuni Sultan Suleyman Training and Research Hospital between July 1, 2015, and December 31, 2015. Data related to age, sex, occupational status of parents, number of siblings, Glasgow coma scale score, transport mode, admission time period of the day, general health status, type of trauma, the trauma site, involved body regions, radiologic imaging and laboratory results, consultations, clinical diagnosis and outcome, duration of emergency service stay, and treatment cost were collected and statistically analyzed. RESULTS: A total of 688 preschool-aged cases were admitted owing to trauma. The major mode of transport was a private vehicle (98.3%), and the major cause was falling (64.0%). The major traumatized body region was head and neck (51.0%), and the major diagnosis was soft tissue trauma (90.1%). The average duration of stay was 122.01 minutes and affected by sibling number, trauma type, and employment status. The total service fee was interrelated with the type of trauma and the site that trauma occurred; it also was strongly correlated with duration of emergency service stay. CONCLUSIONS: Our results suggest that both in-hospital and social/environmental aspects should be improved to reduce the clinical and social burden of trauma.


Assuntos
Serviços Médicos de Emergência , Serviço Hospitalar de Emergência , Criança , Pré-Escolar , Escala de Coma de Glasgow , Hospitalização , Humanos , Estudos Prospectivos , Estudos Retrospectivos
20.
Aktuelle Urol ; 52(1): 82-87, 2021 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-32726815

RESUMO

OBJECTIVE: Radical cystectomy (RCX) is the standard treatment for muscle-invasive and treatment-refractory non-invasive bladder cancer, but that is associated with high morbidity. We now survey current practice patterns on perioperative management among German urological departments of all sizes METHODS: Members of the German Association of Urology and the German Society of Residents in Urology (GeSRU) were contacted by email and asked to answer a 24-item online questionnaire covering clinically relevant aspects of current guidelines and controversies. RESULTS: Responses were obtained from at least 19 % of all German urological centers. About 60 % performed preoperative staging using CT urography and chest CT. The most common perioperative antibiotic prophylaxis was a third generation cephalosporin combined with metronidazole (46 %), administered for a median of 5 days. Stentograms for ileal conduit and neobladder are routinely performed in 38 % and 55 % of patients, respectively. Ureteral stents were usually removed 11 - 12 days after the procedure (ileal conduit and neobladder). Based on the surrogate parameters of preoperative bowel preparation, postoperative start of oral nutrition and use of nasogastric tube, fast-track concepts such as ERAS were not generally established (< 50 %). Robot-assisted cystectomy appears to be performed in 15 % of German urological centers and was associated with the number of performed cystectomies (p < 0.001). CONCLUSIONS: Most aspects of perioperative management in cystectomy patients - staging diagnostics, use of antibiotics, stent removal - are performed in accordance with current guidelines. Other clinical questions such as stent imaging before removal and fast track concepts are handled heterogeneously. Guideline-adherence was not associated with hospital size or number of procedures performed.


Assuntos
Neoplasias da Bexiga Urinária , Derivação Urinária , Cistectomia , Alemanha , Humanos , Complicações Pós-Operatórias/prevenção & controle , Inquéritos e Questionários , Neoplasias da Bexiga Urinária/cirurgia
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