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Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions.
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Inteligencia Artificial , Medicina Molecular , Humanos , Medicina Molecular/métodos , Genética Médica/tendencias , Genética Médica/métodos , Medicina de Precisión/métodos , Genómica/métodosRESUMEN
Introducción y objetivos: El tratamiento con yodo radiactivo (RAIT) se recomienda para reducir el riesgo de recurrencia y de metástasis en personas con cáncer diferenciado de tiroides (CDT) de riesgo intermedio-alto. En la preparación para la RAIT, la estimulación de la tirotropina y la reducción en la reserva corporal de yodo son elementos importantes para contribuir al éxito de la terapia. Para ello, se pide a los pacientes que reduzcan la ingesta de este mineral antes de la RAIT, y puede evaluarse su reserva corporal midiendo su excreción por la orina (yoduria) antes del tratamiento. El objetivo de nuestro estudio ha sido comparar los métodos utilizados para medir la reserva de yodo corporal en la evaluación de la eficacia de la dieta con bajo contenido en yodo (RID) aplicada a la preparación del paciente para la RAIT. Pacientes y métodos: Suspendieron la levotiroxina tres semanas antes de la RAIT y fueron controlados con una RID durante las dos semanas previas a la realización del tratamiento 80 pacientes con CDT. Tras dos semanas de RID, en todos se llevó a cabo una recolección de orina de 24h el día previo a la fecha de administración de la RAIT. Los sujetos finalizaron dicha recolección en la mañana de la fecha de RAIT y suministraron una muestra puntual de orina. Se calculó la excreción estimada de creatinina en orina de 24 horas de los pacientes. La estimación de la excreción urinaria de yodo o yoduria (UIE) de 24 horas oras se determinó a partir del índice yodo/creatinina (I/C) obtenido en la muestra de orina puntual de los individuos. Se compararon los resultados de la yoduria de 24 horas, la concentración de yodo en la muestra puntual de orina, el cociente I/C en la muestra puntual de orina y la estimación de la yoduria de 24 horas en los pacientes. Resultados: En 99%, la eficacia de la RID fue suficiente según la yoduria de 24 horas obtenida previamente a la RAIT...(AU)
Introduction and Objectives: Radioactive iodine therapy (RAIT) is recommended to reduce the risk of recurrence and metastasis in patients with intermediate-high risk differentiated thyroid cancer (DTC). In preparation for RAIT, stimulation of thyroid-stimulating hormone and reduction of body iodine pool are important for treatment success. For this purpose, patients are asked to reduce their iodine intake before RAIT, and the body iodine pool can be evaluated by measuring iodine excretion in urine before treatment. The aim of our study is to compare the methods used to measure the body iodine pool in the evaluation of the restricted iodine diet (RID) effectiveness applied in the RAIT preparation. Patients and methods: Eighty DTC patients discontinued levothyroxine three weeks before RAIT and followed up with a RID two weeks before treatment. After two weeks of RID, all patients collected their 24-hour urine the day before the RAIT date. Patients completed 24-hour urine samples on the morning of the RAIT date and also provided a spot urine sample. The estimated 24-hour creatinine excretion of the patients was calculated. Estimated 24-hour urinary iodine excretion (UIE) was calculated using the spot urine iodine/creatinine (I/C) ratio of the patients. 24-hour UIE, iodine concentration in spot urine, I/C ratios in spot urine and estimated 24-hour UIE of the patients were analyzed by comparing with each other. Results: In 99% of the patients, RID efficiency was sufficient according to 24-hour UIE before RAIT. The mean 24-hour UIE was 48.81 micrograms/day (mcg/day) in 24-hour urine samples taken from the patients to evaluate the body iodine pool. The patients iodine concentrations in spot urine, I/C ratios in spot urine, and estimated 24-hour UIE were all statistically significantly lower than actual 24-hour UIE, which was the reference method (p: 0.026 vs <0.001 vs 0.041)..... (AU)
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Humanos , Neoplasias de la Tiroides , Dieta , Yodo , Creatinina , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia , UrinálisisRESUMEN
BACKGROUND: The most important factors affecting the development of postoperative hypocalcaemia (PH) include intraoperative trauma to the parathyroid glands, incidental parathyroidectomy (IP), and the surgeon's experience. In this study, we aimed to determine the incidence of IP, evaluate its effect on postoperative calcium levels and investigate the effect of surgeon experience and volume on IP incidence and postoperative calcium levels. METHODS: This retrospective study included 645 patients who underwent thyroid surgery at the Department of General Surgery, Kütahya Health Sciences University between September 2016 and March 2020. All patients underwent surgery at a single clinic by general surgeons experienced in thyroid surgery and their residents (3-5 years). RESULTS: Normal parathyroid glands were reported in 58 (8.9%) of 645 patients. In 5 (8.6%) of 58 patients the parathyroid gland was detected in the intrathyroidal region. PH developed in ten patients (17.2%) with incidental removal of the parathyroid glands. A statistically significant difference was found between the number of incidentally removed parathyroid glands and the development of hypocalcaemia (p<0.05). Normal parathyroid glands were reported in the pathology of 37 (7.9%) patients operated on by general surgeons and 22 (12.6%) patients operated on by their residents. PH developed in 39 (8.2%) patients operated on by general surgeons and in 8 (4.5%) patients operated on by their residents. CONCLUSIONS: We found that the complication rate during the resident training process was the same as that of experienced general surgeons. A thyroidectomy can be safely performed by senior residents during residential training.
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Hipocalcemia , Paratiroidectomía , Tiroidectomía , Humanos , Tiroidectomía/efectos adversos , Tiroidectomía/estadística & datos numéricos , Estudios Retrospectivos , Hipocalcemia/etiología , Hipocalcemia/epidemiología , Femenino , Paratiroidectomía/estadística & datos numéricos , Paratiroidectomía/efectos adversos , Persona de Mediana Edad , Masculino , Adulto , Anciano , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Incidencia , Hallazgos Incidentales , Competencia Clínica/estadística & datos numéricos , Glándulas Paratiroides/lesiones , Glándulas Paratiroides/cirugía , Calcio/sangre , Adulto Joven , Complicaciones Intraoperatorias/epidemiología , Complicaciones Intraoperatorias/etiologíaRESUMEN
Objetivo: Recientemente se ha generalizado el uso del sistema vesical imaging-reporting and data (VI-RADS). Nos propusimos validar el rendimiento diagnóstico del VI-RADS para diferenciar el cáncer vesical músculo-iinvasivo (CVMI) del cáncer vesical no músculo-invasivo (CVNMI) en un contexto de práctica clínica real. Métodos Entre diciembre de 2019 y febrero de 2022 se revisaron los pacientes con sospecha de cáncer vesical primario. Se incluyeron los pacientes con un protocolo de RM multiparamétrica adecuado para VI-RADS antes de cualquier tratamiento invasivo. La estadificación local de los pacientes se realizó mediante resección transuretral, segunda resección o cistectomía radical como tratamiento de referencia. Dos expertos en radiología genitourinaria cegados a los datos clínicos e histopatológicos evaluaron las imágenes de RM multiparamétrica de forma independiente y retrospectiva. Se analizó el rendimiento diagnóstico de ambos radiólogos y la concordancia entre lectores. Resultados De los 96 pacientes, 20 (20,8%) tenían CVMI y 76 (79,2%) tenían CVNMI. La exactitud diagnóstica del CVMI fue alta para los dos radiólogos. El primer radiólogo tenía un área bajo la curva (ABC) de 0,83 y 0,84, una sensibilidad de 85% y 80% y una especificidad de 80,3% y 88,2% para VI-RADS≥3 y≥4, respectivamente. El segundo radiólogo tenía un área bajo la curva (ABC) de 0,79 y 0,77, una sensibilidad del 85% y el 65% y una especificidad del 73,7% y el 89,5% para VI-RADS≥3 y≥4, respectivamente. La concordancia de la puntuación VI-RADS global entre los dos radiólogos fue moderada (K=0,45). Conclusión El sistema VI-RADS tiene un alto poder diagnóstico para diferenciar el CVMI de CVNMI antes de la resección transuretral. La concordancia entre los radiólogos es moderada. (AU)
Objective: Preoperative Vesical Imaging-Reporting and Data System (VI-RADS) becomes widespread. We aimed to validate the diagnostic performance of VI-RADS in differentiating muscle-invasive (MIBC) from non-muscle-invasive bladder cancer (NMIBC) in a real-world setting. Methods Between December 2019 and February 2022 suspected primary bladder cancer patients were reviewed. Those with proper multiparametric MRI (mpMRI) protocol for VI-RADS before any invasive treatment were included. Patients were locally staged according to transurethral resection, second resection, or radical cystectomy as the reference standard. Two experienced genitourinary radiologists who were blinded to clinical and histopathological data evaluated the mpMRI images independently and retrospectively. The diagnostic performance of both radiologists and the interreader agreement were analyzed. Results Among 96 patients, 20 (20.8%) had MIBC, and 76 (79.2%) had NMIBC. Both radiologists had great diagnostic performance in diagnosing MIBC. The first radiologist had an area under curve (AUC) of 0.83 and 0.84, the sensitivity of 85% and 80%, and the specificity of 80.3% and 88.2% for VI-RADS≥3 and≥4, respectively. The second radiologist had an area under curve (AUC) of 0.79 and 0.77, the sensitivity of 85% and 65%, and the specificity of 73.7% and 89.5% for VI-RADS≥3 and≥4, respectively. The overall VI-RADS score agreement between the two radiologists was moderate (K=0.45). Conclusion VI-RADS is diagnostically powerful in differentiating MIBC from NMBIC prior to transurethral resection. The agreement between radiologists is moderate. (AU)
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Humanos , Masculino , Femenino , /diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , /métodosRESUMEN
Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is common in the community. The most important clinical manifestation of G6PD deficiency is acute hemolytic anemia due to oxidative stressors. Diabetes Mellitus (DM) can precipitate hemolysis in patients with G6PD deficiency. Here, we described a 15-year-old male with newly diagnosed type 1 DM (T1DM) and unknown G6PD deficiency who suffered from hemolytic anemia during normalization of blood glucose. On admission, the patient did not have ketoacidosis. After the patient's blood sugars were regulated with insulin therapy, he presented five days later with hemolytic anemia. The cause of hemolytic anemia was G6PD deficiency. The patient had no previous episodes of hemolysis and had no relevant family history. Hypoglycemia did not occur during blood glucose regulation. The return of blood sugar to normal after a long period of hyperglycemia was thought to be the possible cause of hemolysis. In conclusion, G6PD deficiency should be considered when there is an episode of hemolysis in newly diagnosed children and adolescents with T1DM, especially in the absence of ketoacidosis and hypoglycemia.
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PURPOSE OF THE STUDY Soft tissue sarcomas of the popliteal fossa are extremely rare tumors of mesenchymal origin accounting for 3%-5% of all extremity sarcomas. However, data regarding the tumor type, neurovascular involvement, and administration of radiation therapy before or after resection are limited. This study aimed to report on popliteal fossa sarcomas analyzing data from two institutions based on a relatively large patient sample. MATERIAL AND METHODS Twenty-four patients (80%; 9 men and 15 women) with a popliteal fossa soft tissue sarcoma were included in this study. The reviewed patient data included sex, age, duration of complaints, interval to diagnosis, radiology, pre- and postoperative biopsy, tumor histology, surgery type, complications, and pre- and postoperative oncologic and functional outcomes. The minimum follow-up was 24 months. RESULTS The mean age of the patients was 48 ± 21.23 (range 3-72) years at the time of diagnosis. The mean follow-up was 41.79 ± 16.97 (range 24-120) months. The most common histological diagnoses were synovial sarcoma (6 patients), hemangiopericytoma (2 patients), soft tissue osteosarcoma (2 patients), unidentified fusiform cell sarcoma (2 patients), and myxofibrosarcoma (2 patients). Local recurrence after limb salvage was observed in six patients (26%). At the latest followup, 2 patients died of the disease, 2 patients were still alive with progressive lung disease and soft tissue metastasis, and the remaining 20 patients were free from the disease. CONCLUSIONS Microscopically positive margins may not be an absolute indication for amputation. Also, negative margins do not provide a guarantee that local recurrence will not occur. Lymph node or distant metastasis may be predictive factors for local recurrence rather than positive margins. Key words: fossa poplitea, sarcoma.
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Sarcoma , Neoplasias de los Tejidos Blandos , Masculino , Adulto , Humanos , Femenino , Preescolar , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Sarcoma/diagnóstico , Sarcoma/cirugía , Recuperación del Miembro/métodos , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/cirugía , Neoplasias de los Tejidos Blandos/patologíaRESUMEN
OBJECTIVE: Desmoid tumor is a rare benign but locally aggressive monoclonal and fibroblastic proliferation. It lacks metastatic potential but is associated with a high local recurrence after surgery. It is either characterized by the Beta-catenin gene (CTNNB1) or the adenomatous polyposis coli gene (APC) mutation. The most appropriate treatment approach is watchful waiting with periodic follow-ups for asymptomatic patients. However, symptomatic patients who are not good candidates for surgery due to high morbidity risk may benefit from medical therapy. The new drugs targeting programmed cell death protein 1 (PD-1) and programmed death-ligand 1 (PD-L1) display promising results in many cancer types. This study assessed the PD-L1 status of desmoid tumors in 18 patients. PATIENTS AND METHODS: Biopsy and resection materials of 18 patients diagnosed with desmoid tumors between April 2016 and April 2021 were retrieved and assessed for PD-L1 expression. The prepared slides were immunohistochemically stained with PD-L1 antibody using Leica Bond® automated immunohistochemistry stainer. RESULTS: No positive PD-L1 staining of the desmoid tumor cells was detected in any specimens. Intratumoral lymphocytes were present in all specimens. However, five of them were positively stained for PD-L1. CONCLUSIONS: Based on the results of our study, anti-PD-1/PD-L1 therapy may not be a valuable option in desmoid tumor treatment due to the lack of expression of PD-L1 by desmoid tumor cells. Nevertheless, the presence of positively stained intratumoral lymphocytes may warrant further studies.
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Fibromatosis Agresiva , Humanos , Estudios Retrospectivos , Fibromatosis Agresiva/genética , Antígeno B7-H1/metabolismo , Ligandos , ApoptosisRESUMEN
Background: Acute appendicitis (AA) is one of the most common emergency surgery. Aim: To evaluate the performance of laboratory parameters used in the diagnosis of AA. Subjects and Methods: There were two groups. In both groups, leukocyte (WBC), neutrophil, lymphocyte count, neutrophil/lymphocyte ratio (NLR), mean platelet volume (MPV), red cell distribution width (RDW), and platelet distribution width (PDW) values were examined in complete blood count (CBC). In addition, serum bilirubin (total bilirubin and direct bilirubin) values were examined. All laboratory parameters studied were compared to evaluate their diagnostic performance. Results: A total of 128 people were in the AA group and 122 people were in the healthy group (control). WBC count, neutrophil count, NLR, total bilirubin, direct bilirubin, and PDW values were significantly higher in the AA group than in the control group (P value <0.05). Lymphocyte counts and MPV values in the AA group were significantly lower than in the control group (P value <0.05). The sensitivity and selectivity of the WBC and neutrophil counts in AA were 95.13%, 89.34%, 94.53%, and 93.44%, respectively. The sensitivity and selectivity of the total bilirubin values were 59.38% and 73.77%, respectively. Area under the ROC curve (AUC) values within 95% confidence interval were over 0.900 for neutrophil count, WBC count, direct bilirubin, NLR, and PDW values. AUC values for total bilirubin, lymphocyte count, RDW, and MPV values were below 0.700. Conclusions: Diagnostic performances of the laboratory parameters were determined as follows: neutrophil count > WBC count > direct bilirubin = NLR = PDW > total bilirubin = lymphocyte count = RDW = MPV.
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Apendicitis , Humanos , Estudios Retrospectivos , Apendicitis/diagnóstico , Recuento de Leucocitos , Volúmen Plaquetario Medio , Bilirrubina , Enfermedad AgudaRESUMEN
OBJECTIVES: Preoperative Vesical Imaging-Reporting and Data System (VI-RADS) becomes widespread. We aimed to validate the diagnostic performance of VI-RADS in differentiating muscle-invasive (MIBC) from non-muscle-invasive bladder cancer (NMIBC) in a real-world setting. METHODS: Between December 2019 and February 2022 suspected primary bladder cancer patients were reviewed. Those with proper multiparametric MRI (mpMRI) protocol for VI-RADS before any invasive treatment were included. Patients were locally staged according to transurethral resection, second resection, or radical cystectomy as the reference standard. Two experienced genitourinary radiologists who were blinded to clinical and histopathological data evaluated the mpMRI images independently and retrospectively. The diagnostic performance of both radiologists and the interreader agreement were analyzed. RESULTS: Among 96 patients, 20 (20.8%) had MIBC, and 76 (79.2%) had NMIBC. Both radiologists had great diagnostic performance in diagnosing MIBC. The first radiologist had an area under curve (AUC) of 0.83 and 0.84, the sensitivity of 85% and 80%, and the specificity of 80.3% and 88.2% for VI-RADS ≥3 and ≥4, respectively. The second radiologist had an area under curve (AUC) of 0.79 and 0.77, the sensitivity of 85% and 65%, and the specificity of 73.7% and 89.5% for VI-RADS ≥3 and ≥4, respectively. The overall VI-RADS score agreement between the two radiologists was moderate (κâ¯=â¯0.45). CONCLUSION: VI-RADS is diagnostically powerful in differentiating MIBC from NMBIC prior to transurethral resection. The agreement between radiologists is moderate.
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Imágenes de Resonancia Magnética Multiparamétrica , Neoplasias de la Vejiga Urinaria , Humanos , Estudios Retrospectivos , Vejiga Urinaria/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/patología , CistectomíaRESUMEN
Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every 20 to 25 years, and thus placement should be minimally invasive. Furthermore, failed reimplantation surgery will have more impact on a deafblind person. In this context, we assessed the safety of minimally invasive robotically assisted cochlear implant surgery (RACIS) for the first time in a deafblind patient. Standard pure tone audiometry and speech audiometry were performed in a patient with deafblindness as part of this robotic-assisted CI study before and after surgery. This patient, with an optic atrophy 1 (OPA1) (OMIM#165500) mutation consented to RACIS for the second (contralateral) CI. The applicability and safety of RACIS were evaluated as well as her subjective opinion on her disability. RACIS was uneventful with successful surgical and auditory outcomes in this case of deafblindness due to the OPA1 mutation. RACIS appears to be a safe and beneficial intervention to increase communication skills in the cases of deafblindness due to an OPA1 mutation. The use of RACIS use should be widespread in deafblindness as it minimizes surgical trauma and possible failures.
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Implantación Coclear , Implantes Cocleares , Trastornos Sordoceguera , Sordera , Femenino , Humanos , Implantación Coclear/métodos , Trastornos Sordoceguera/genética , Trastornos Sordoceguera/cirugía , Sordera/genética , Sordera/cirugía , GTP Fosfohidrolasas/genética , MutaciónRESUMEN
Objetivo Analizar los factores predictivos de tumores residuales en la segunda resección tras la resección transuretral inicial del tumor de vejiga en pacientes con tumores pT1 y desarrollar un método sencillo para predecir la probabilidad de detección del tumor residual. Material y métodos En nuestro estudio retrospectivo se incluyeron pacientes con cáncer de vejiga pT1 que se sometieron a una segunda resección entre 2 y 6 semanas después de la primera resección transuretral del tumor de vejiga. Se registraron los datos demográficos de los pacientes y las características del tumor en la primera y segunda resección. Resultados En nuestro análisis se incluyeron 144 pacientes con un seguimiento de 53 meses. En el análisis de regresión logística univariante, el grado del tumor, el carcinoma in situ concomitante, el aspecto macroscópico del tumor (sólido frente a papilar) y la presencia de una histología diferente, fueron factores de riesgo significativos para el tumor residual. En el análisis multivariante, solo el grado del tumor fue un factor predictivo independiente del tumor residual en la segunda resección transuretral (OR: 5,62; IC del 95%: 1,228-25,708; p=0,026). Según nuestros resultados, los pacientes con el riesgo más alto tienen una probabilidad de detección de tumor residual del 90,9% en la segunda resección, y en los pacientes con el riesgo más bajo es del 25,4%. Conclusiones El grado del tumor, el aspecto macroscópico del tumor (sólido frente a papilar) y el carcinoma in situ concomitante fueron predictores significativos de tumores residuales en la segunda resección de pacientes con cáncer de vejiga no músculo invasivo pT1 primario. Descubrimos que se podía calcular la probabilidad de un tumor residual para así determinar estrategias adaptadas al riesgo en función de estas probabilidades (AU)
Objective To analyze the predictive factors for residual tumors in the second resection after the initial transurethral resection of bladder tumor (TUR-BT) in patients with pT1 tumors and to develop a simple method to predict the probability of residual tumor detection. Material and methods Patients with pT1 bladder cancer who underwent a second resection within 2 to 6 weeks after the initial transurethral resection of bladder tumor were included in our retrospective study. The patients demographics and the tumor characteristics of the initial and second resections were recorded. Results A total of 144 patients were included in our analysis with a 53-month follow-up. In the univariate logistic regression analysis, tumor grade, concomitant carcinoma in situ, macroscopic appearance of the tumor (solid vs papillary), and presence of a variant histology, were significant risk factors for residual tumor. In the multivariate analysis, tumor grade was the only independent predictor of residual tumor at second transurethral resection (OR: 5.62, 95% CI: 1.22825.708, p=0.026). According to our findings, the patients with the highest risk have a 90.9% residual tumor detection probability at the second resection, and the patients with the lowest risk have 25.4% Conclusions Tumor grade, macroscopic appearance of the tumor (solid vs papillary), and concomitant carcinoma in situ, were important predictors of residual tumors at second resection of primary pT1 non-muscle invasive bladder cancer patients. We were able to calculate the probability of residual tumor which helped us determine risk adapted strategies according to these probabilities (AU)
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Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Neoplasias de la Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/patología , Carcinoma in Situ/cirugía , Carcinoma in Situ/patología , Neoplasia Residual/patología , Estudios de Seguimiento , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: Smoking cessation is affected by multiple factors including cognitive status of the patients. In this study, we aimed to investigate the effects of demographic, emotional and cognitive functions of 39 male and 42 female patients who applied to the smoking cessation outpatient clinic on smoking cessation. PATIENTS AND METHODS: This study recruited 81 healthy volunteers of equal age, gender, and educational level. Total Montreal Cognitive Assessment (MoCA) scores were compared according to age, gender, cessation methods, and Beck Depression Inventory and Beck Anxiety Inventory (BAI) scores in smoking cessation settings. RESULTS: In our study, there were 39 (48.1%) male patients and 42 (51.9%) female patients. While 36 patients were able to quit smoking, the remaining 38 were unable to do so. During follow-up, 7 patients had yet to be reached. Age, years of smoking, number of cigarettes smoked per day, education level, first reason for starting smoking, reasons for quitting smoking, quitting method, and medical drugs used were found to have no effect on smoking cessation; however, the MoCA total score, Beck depression scale, Beck anxiety scale, and smoking cessation scale score were found to have significant effects on smoking cessation. CONCLUSIONS: Various cognitive processes, particularly visuospatial and attention skills, have been found to be useful in quitting smoking. Furthermore, emotional states, such as depression and anxiety have a negative impact on quitting smoking. We believe that if it is provided to the patients in the smoking cessation outpatient clinic to boost cognitive capabilities and treat mood problems, the success of smoking cessation will increase.
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Cese del Hábito de Fumar , Ansiedad , Cognición , Femenino , Humanos , Masculino , Fumar/efectos adversos , Fumar/psicología , Cese del Hábito de Fumar/métodos , Fumar TabacoRESUMEN
INTRODUCTION AND OBJECTIVES: To investigate factors affecting SWL outcomes, validate three current nomograms (Kim JK, Triple D and S3HoCKwave) and compare the predictive ability of the nomograms for SWL outcomes in upper urinary tract stones. PATIENTS AND METHODS: Medical records of patients with renal and proximal ureteral stones treated with SWL between March 2013 and October 2020 were retrospectively reviewed. Factors affecting SWL success were analyzed with multivariate logistic regression analysis and the three predictive scoring systems compared with the area under the curve (AUC). RESULTS: A total of 580 patients were included in our study. The overall stone free rate was 61% and 144/580 patients (24.8%) were stone free after one session. In multivariate logistic regression analysis, stone location at upper calyx (OR:2.988; 95%Cl: 1.350-6.612; pâ¯=â¯0.007), middle calyx (OR:3.036; 95%Cl: 1.472-6.258; pâ¯=â¯0.003), and lower calyx (OR:2.131; 95%Cl: 1.182-3.839; pâ¯=â¯0.012), as well as number of stones (OR:1.663; 95%Cl: 1.140-2.425; pâ¯=â¯0.008), maximum diameter of stone (OR:1.156; 95%Cl: 1.098-1.217; pâ¯<â¯0.001) and maximum Hounsfield Unit (OR:1.001; 95%Cl: 1.001-1.002; pâ¯<â¯0.001) were independent risk factors of SWL failure. The AUCs of the Kim JK, Triple D and S2HoCKwave scores for predicting SWL success were 0.678, 0.548, and 0.626 respectively. CONCLUSIONS: Stone location, number, maximal diameter, and maximum HU were independent predictive factors for SWL outcome in the treatment of upper urinary tract stones. Current nomograms, "Kim JK nomogram", "Triple D score" and "S3HoCKwave score" can predict treatment success after SWL, but all of them have poor discrimination according to AUC analysis.
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Litotricia , Cálculos Urinarios , Humanos , Nomogramas , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Cálculos Urinarios/terapiaRESUMEN
OBJECTIVE: Prostate cancer (PCa) is the second most common solid tumor in men and the fifth leading cause of cancer-related death. In advanced stage, palliative treatments are used instead of curative therapies. Therefore, finding predictive indicators seems crucial. Patients with castration-resistant prostate cancer (CRPC) that received Dx chemotherapy have been retrospectively reviewed. The aim of this study was to investigate whether docetaxel (Dx)-free interval could have a predictive value for PCa and influence other sequential therapies. MATERIAL AND METHODS: This clinical trial study was performed on 104 patients at Medeniyet University Oncology Clinic in 2018-2020. All CRPC patients had metastases, received Dx as first-line treatment and underwent androgen receptor axis targeted (ARAT) therapy after disease progression. We analyzed patients' progression time after Dx therapy and the effects on sequential treatment. RESULTS: After Dx therapy, all patients received ARAT (abiraterone (ABI) n: 49 (47.1%) and enzalutamide (ENZ) n: 54 (51.9%)) as a second-line treatment, except for one patient who received cabazitaxel. There was a statistically significant relationship between the Dx-free interval and duration of response to ARAT (p<0.001). The response time of ARAT treatment was <10.5 months in all patients whose Dx-free interval period was <9 months. CONCLUSIONS: Our findings support the theory that Dx-free interval can be a predictive factor for CRPC. CRPC disease can be classified as Dx-sensitive disease or Dx-resistance disease, based on the Dx-free interval. Decision on subsequent treatments could be made considering this information.
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Neoplasias de la Próstata Resistentes a la Castración , Humanos , Masculino , Supervivencia sin Enfermedad , Docetaxel/uso terapéutico , Antígeno Prostático Específico , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológico , Neoplasias de la Próstata Resistentes a la Castración/patología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
OBJECTIVE: To analyze the predictive factors for residual tumors in the second resection after the initial transurethral resection of bladder tumor (TUR-BT) in patients with pT1 tumors and to develop a simple method to predict the probability of residual tumor detection. MATERIAL AND METHODS: Patients with pT1 bladder cancer who underwent a second resection within two to six weeks after the initial TUR-BT were included in our retrospective study. The patients' demographics and the tumor characteristics of the initial and second resections were recorded. RESULTS: A total of 144 patients were included in our analysis with a 53-month follow-up. In the univariate logistic regression analysis, tumor grade, concomitant carcinoma in situ (CIS), macroscopic appearance of the tumor (solid vs papillary), and presence of a variant histology, were significant risk factors for residual tumor. In the multivariate analysis, tumor grade was the only independent predictor of residual tumor at second TUR (OR: 5.62, 95% CI: 1.228-25.708, p = 0.026). According to our findings, the patients with the highest risk have a 90.9% residual tumor detection probability at the second resection, and the patients with the lowest risk have 25.4%. CONCLUSIONS: Tumor grade, macroscopic appearance of the tumor (solid vs papillary), and concomitant CIS, were important predictors of residual tumors at second resection of primary pT1 NMIBC patients. We were able to calculate the probability of residual tumor which helped us determine risk adapted strategies according to these probabilities.
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Carcinoma in Situ , Carcinoma de Células Transicionales , Neoplasias de la Vejiga Urinaria , Carcinoma de Células Transicionales/patología , Carcinoma de Células Transicionales/cirugía , Progresión de la Enfermedad , Humanos , Recurrencia Local de Neoplasia/cirugía , Neoplasia Residual/patología , Neoplasia Residual/cirugía , Estudios Retrospectivos , Factores de Riesgo , Neoplasias de la Vejiga Urinaria/patologíaRESUMEN
Purpose: The progress of prostate cancer entails complex contemporaneous tumor developmental events in diverse stages that they are still yet to be clarified. miRNAs might accompany to balance between regulatory and cytotoxic T cells in tumors. Here, we investigated miRNAs and Regulatory T cell (Treg) marker FOXP3 expressions within prostate cancer spectrum. Methods: Thirty-eight prostate cancer patients enrolled within two groups to the study as having Gleason Score ≤ 7 (Group-1) and ≥ 8 (Group-2) that compared to 19 benign prostate hyperplasia controls. Twelve miRNAs expressions were analyzed by real time PCR from paraffin-embedded prostate tissue samples. Correlations between serum PSA levels, immunohistochemical staining of CD3, CD4, FOXP3 and miRNA expressions were analyzed. Results: In our study, hsa-let7c-3p significantly 1,52 (p=0.018) and 1,84 (p=0.0095) fold down- regulated whereas, miR-141-3p was significantly 2,36 (p=0.0006) and 2,24 (p=0.001) fold upregulated in the prostate cancer patients compared to benign prostate hyperplasia in group 1 and 2, respectively. Only CD4 (p=0.004) and PSA (p<0.001) have statistically significant differences among groups when compared to benign prostate hyperplasia. miR-143-p, miR-221-3p, hsa-let7c-3p and miR-17-3p expressions were significantly correlated with regulatory T cell marker FOXP3 expression. Conclusions: For the first time, we reported significantly altered expression levels of miRNAs (miR-let7c, miR221, miR-146a, miR-141, miR-143, miR17) and correlations between Treg marker FOXP3 in the aggressive prostate cancer patients suggesting that prostate cancer progression might be under the regulation of crosstalk between Tregs and miRNAs (AU)
Propósito: El progreso del cáncer de próstata implicaeventos complejos de desarrollo tumoral contemporáneo endiversas etapas que aún no se han aclarado. Aquí, investigamos los MIRNAs y el marcador de células T reguladoras(Treg) FOXP3 expresiones dentro del espectro de cáncer depróstata.Métodos: Treinta y ocho pacientes con cáncer depróstata inscritos dentro de dos grupos para el estudio unapuntuación de Gleason ≤ 7 (Grupo-1) y ≥ 8(Grupo-2)que en comparación con 19 controles benignos de hiperplasia de próstata. Doce expresiones miRNAs fueron analizadas por PCR en tiempo real a partir demuestras detejidoprostático incrustado en parafina. Se analizaronlos nivelesde PSA séricos de correlaciónsetween, la tinción inmunohistoquímica de expresiones CD3, CD4, FOXP3 y miRNA.Resultados: En nuestro estudio, has-let7c-3p significativamente 1,52 (p-0.018) y 1,84 (p-0. 0095) plegarsehacia abajo, mientras que, miR-141-3p fue significativamente 2,36 (p-0.0006) y 2,24 (p-0. 001) plegarse reguladoen los pacientes con cáncer de próstata en comparación conla hiperplasia benigna de próstata en los grupos 1 y 2, respectivamente. Sólo CD4 (p-0.004) y PSA (p<0. 001)tienen diferencias estadísticamente significativas entre losgrupos en comparación con la hiperplasia benigna de próstata. las expresiones miR-143-p, miR-221-3p, has-let7c-3py miR-17-3p se correlacionaron significativamente conlaexpresión FOXP3 del marcador de celda T egulatorio r.Conclusiones: Fo laprimera vez,informamos denivelde expresión significativamente alterado demiRNAs (miR-let7c, miR221, miR-146a, miR-141, miR-143,miR17) y correlaciones entre el marcador Treg DE Treg33en los pacientes agresivos de cáncer de próstata sugiriendoque la progresión del cáncer de próstata podría estar bajo laregulación de la cruz entre Tregtalks y miR. (AU)
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Humanos , Masculino , Factores de Transcripción/genética , Factores de Transcripción Forkhead/genética , MicroARNs/genética , Neoplasias de la Próstata/genética , Estudios de Casos y Controles , Biomarcadores de Tumor , Marcadores Genéticos , Perfilación de la Expresión Génica , MicroARNs/metabolismo , Antígeno Prostático Específico , Linfocitos T Reguladores/metabolismoRESUMEN
Objectives: We aimed to evaluate oncologic outcomes of pT3a renal cell carcinoma (RCC) patients that treated with radical or partial nephrectomy and identify clinical or pathological factors that predict local recurrence or metastasis. Methods: In this single center, retrospective study, we evaluated medical records of 856 patients who underwent radical or partial nephrectomy for RCC. Patients who had pT3aN0M0 RCC in final pathology and at least 6 months of follow-up included in the study. Patients demographic characteristics, laboratory parameters, tumor characteristics and oncological outcomes were recorded. Cancer specific and overall survivals were our primary outcomes. Multivariate analysis was performed to identify factors affecting oncologic outcomes. Results: A total of 86 pT3aN0M0 RCC patients were included final analysis of our study. During the mean 60.75 months follow up, 3 patients (3.5%) had experienced local recurrence and 19 patients (22.1%) had experienced metastasis. Total of 24 patients (27.9%) had died during the follow up. In this population 10-year OS was 70.8%, 10-year PFS was 61.3% and 10-year CSS was 78.4%. In multivariate analysis, chronic renal failure (CRF) was an independent worse prognostic factor for overall survival (p=0.03). Besides this sarcomatoid differentiation was an independent prognostic factor for PFS, CSS and OS (p=<0.001). Conclusions: Our study investigated the predictive factors for worse oncologic outcomes in pT3aN0M0 RCC patients. Although many factors have predictive value in univariate analysis, only sarcomatoid differentiation have independent predictive value for worse CSS, PFS and OS. Besides sarcomatoid differentiation, CRF is an independent prognostic factor for poor OS (AU)
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Neoplasias Renales/cirugía , Carcinoma de Células Renales/cirugía , Neoplasias Renales/patología , Carcinoma de Células Renales/patología , Estudios Retrospectivos , Pronóstico , Estadificación de Neoplasias , Nefrectomía , Recurrencia Local de NeoplasiaRESUMEN
OBJECTIVE: Differentiation between renal oncocytoma (RON) and chromophobe renal cell carcinoma (chRCC) remains challenging. We aimed to assess the accurate apparent diffusion coefficient (ADC) radiomics features in differentiating these tumors. MATERIALS AND METHODS: This single-center retrospective study included 14 patients with histopathologically proven RON (nâ¯=â¯6) and chRCC (nâ¯=â¯8) who underwent magnetic resonance imaging. Features were extracted from ADC maps. Features with an intraclass correlation coefficient >0.90, an intergroup pâ¯<â¯0.01 and interrater differences with normal distribution underwent agreement and receiver operating characteristic curve analyses. RESULTS: Overall, 6 features qualified for further analysis and Bland-Altman plots revealed acceptable agreement for all. Only 1 first order feature and 5 high order texture features successfully predicted RON with more than 90% sensitivities and specificities more than 80%. CONCLUSION: Squared mean ADC and certain gray level run length matrix features extracted by radiomics of ADC mapping provide quite high diagnostic precision in terms of distinguishing between RON and chRCC.
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Adenoma Oxifílico , Carcinoma de Células Renales , Neoplasias Renales , Adenoma Oxifílico/diagnóstico por imagen , Adenoma Oxifílico/patología , Carcinoma de Células Renales/patología , Femenino , Humanos , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Masculino , Estudios RetrospectivosRESUMEN
The hand is an extremely rare site for giant cell tumor (GCT). There are only a few reported cases of GCT including the hand, and even fewer reporting involvement of phalanges. GCTs in small bones are typically more aggressive and have higher local recurrence and rate of metastasis in younger patients compared to long bone involvement, so the treatment is more clinically challenging in the hand. In this study, we present the management of giant cell tumors of the proximal phalanxin two patients treated with two different method; ray resection and arthrodesis using an iliac crest graft. Key words: giant cell tumor, phalanx, hand, recurrence.
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Neoplasias Óseas , Falanges de los Dedos de la Mano , Tumor Óseo de Células Gigantes , Humanos , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/cirugía , Tumor Óseo de Células Gigantes/diagnóstico por imagen , Tumor Óseo de Células Gigantes/cirugía , Tumor Óseo de Células Gigantes/patología , Artrodesis , Falanges de los Dedos de la Mano/diagnóstico por imagen , Falanges de los Dedos de la Mano/cirugía , Falanges de los Dedos de la Mano/patología , ManoRESUMEN
OBJECTIVE: We aimed at demonstrating the effect of thyroid function status on proprotein convertase subtilisin kexin type 9 (PCSK9) and determining the effect of thyroid hormones on lipid metabolism by comparing the PCSK9 levels of patients with subclinical hypothyroidism, overt hypothyroidism, and hyperthyroidism. PATIENTS AND METHODS: 124 patients with thyroid disorders, aged between 18 and 65 years, were included in this study. The participants were divided into 3 groups. Group 1 comprised 52 patients with subclinical hypothyroidism, Group 2 comprised 40 patients with overt hypothyroidism, and Group 3 comprised 32 patients with hyperthyroidism. In all of these groups, the thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglyceride, total cholesterol, fasting serum glucose, antithyroid peroxidase antibody, antithyroglobulin antibody, and PCSK9 levels were measured. RESULTS: No significant difference was found between the 3 groups in terms of age, gender, and body mass indices. Median PCSK9 measurements were 14.55 ng/mL in Group 1, 14.895 ng/mL in Group 2, and 9.775 ng/mL in Group 3. There was a significant difference in the PCSK9 levels between Group 1-Group 3 and Group 2-Group 3 (p <0.0001 and p <0.0001, respectively). A positive correlation between PCSK9 and the TSH levels (r = 0.211, p= 0.019), and a negative correlation (r = -0,239, p = 0.009 and r = -, 0.218, p = 0.015) between the fT3 and fT4 levels were found. CONCLUSIONS: The serum PCSK9 levels were shown to be associated with thyroid dysfunction. However, no relationship was observed between the serum PCSK9 level and thyroid autoantibody positivity, and obesity in this study.