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Id: biblio-978149
Autor: Bascur P, M. Nicole; Ceballos O, M. Luisa; Farfán U, Mauricio; Gajardo H, Iván; López C, Joaquín.
Título: Detección de mutaciones del gen de HNF1B en niños con malformaciones congénitas renales y del tracto urinario / Detection of mutations of the HNF1B gene in children with congenital anomalies of the kidney and urinary tract
Fonte: Rev. chil. pediatr;89(6):741-746, dic. 2018. tab, graf.
Idioma: es.
Projeto: Hospital Luis Calvo Mackenna.
Resumo: Resumen: Introducción: Las anomalías congénitas del riñón y del tracto urinario se originan de alteraciones genéticas, en su mayoría desconocidas. Las mutaciones en el gen que codifica para el factor hepatocitario nuclear 1B (HNF1B), son la causa monogénica más frecuentemente descrita. Se desconocen datos en Chile y Latinoamérica. Objetivo: Determinar la presencia de variantes del gen HNF1B en niños chilenos con anomalías congénitas del riñón y/o tracto urinario y sus características clínicas. Pacientes y Mé todo: Estudio descriptivo con pacientes entre 10 meses y 17 años, consultantes en Unidad de Nefrología Hospital Luis Calvo Mackenna, período abril - diciembre 2016, portadores de displasia renal quística, displasia/hipoplasia renal no quística y/o riñón en herradura. Se determinaron variantes de HNF1B mediante secuenciación de exones 1, 2, 3 y 4; previa extracción y amplificación de DNA. Se utilizaron enzimas de restricción para definir si variantes eran homo o heterocigotas. Familiares di rectos de casos índices se estudiaron con secuenciación del exón afectado. Resultados: Se incluyeron 32 pacientes, 43,75% varones, mediana edad 11 años. El 65,6% displasia/hipoplasia renal no quística, 31,25% displasia renal quística y 3,15% riñón en herradura. En 2 pacientes (6,25%) se detectó una misma variante genética heterocigota en exón 4, posición 1027 (C1027T), no descrita anteriormente. El estudio de familiares determinó la variante en 3 de 5 individuos, todos sin anomalías nefrouro- lógicas congénitas. Conclusiones: Confirmamos la presencia de una variante genética heterocigota del gen HNF1B, no descrita previamente, dando inicio a la búsqueda de este tipo de mutaciones en nuestro medio, lo cual nos permite aproximarnos al conocimiento de causalidad, determinación de compromiso extrarrenal y consejo genético.

Abstract Introduction: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. Objective: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics. Patients and Method: Descriptive study with children aged 10 months to 17 years, patients of the Calvo Mackenna Hospital Nephrology Unit, with cystic renal dysplasia, non cystic renal dysplasia/hypoplasia, horses hoe kidney between April and December 2016. HNF1B variants were determined by sequencing of exons 1, 2, 3 and 4 after DNA extraction and amplification. Restriction enzymes were used to define if the variants were homo or heterozygous. Direct family members of index cases were studied with sequencing of the affected exon. Results: 32 patients were included, 43.75% males, median age 11 years. 65.6% of them had non-cystic renal dysplasia, 31.25% cystic renal dysplasia, and 3.15% hor seshoe kidney. In two patients (6.25%) the same heterozygous genetic variant was detected in exon 4, position 1027 (C1027T), not previously described. The study of relatives found the same variant in three out of five individuals, all without congenital nephro-urological anomalies. Conclusions: We confirmed the presence of a not previously described heterozygous genetic variant of the HNF1B gene. This work initiates the search for this type of mutations in our region which allows us to ap proach the knowledge of causality, determination of extrarenal involvement, and genetic counseling.
Descritores: Anormalidades Urogenitais/genética
Doenças Urológicas/genética
Fator 1-beta Nuclear de Hepatócito/genética
Nefropatias/genética
-Marcadores Genéticos
Chile
Estudos Prospectivos
Predisposição Genética para Doença
Heterozigoto
Mutação
Limites: Humanos
Masculino
Feminino
Lactente
Pré-Escolar
Criança
Adolescente
Tipo de Publ: Estudo Observacional
Responsável: CL1.1 - Biblioteca Central


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Id: lil-782858
Autor: Patel, Nishant; Santomauro, Michael; Marietti, Sarah; Chiang, George.
Título: Laparoendoscopic single site surgery in pediatric urology: does it require specialized tools?
Fonte: Int. braz. j. urol;42(2):277-283, Mar.-Apr. 2016. tab, graf.
Idioma: en.
Resumo: ABSTRACT Purpose: To describe our experience utilizing Laparoendoscopic single site (LESS) surgery in pediatric urology. Materials and Methods: Retrospective chart review was performed on LESS urologic procedures from November 2009 through March 2013. A total of 44 patients underwent 54 procedures including: nephrectomy (23), orchiopexy (14), varicocelectomy (9), orchiectomy (2), urachal cyst excision (3), and antegrade continence enema (3) (ACE). Results: Median patient age was 6.9 years old. Estimated blood loss (EBL), ranged from less than 5cc to 47cc for a bilateral nephrectomy. Operative time varied from 56 mins for varicocelectomy to a median of 360 minutes for a bilateral nephroureterectomy. Incision length ranged between 2 and 2.5cm. In our initial experience we used a commercial port. However, as we progressed, we were able to perform the majority of our procedures via adjacent fascial punctures for instrumentation at the single incision site. One patient did require conversion to an open procedure as a result of bleeding. Three complications were noted (6.8%), with two Clavien Grade 3b complications. Two patients required additional procedures at 1-year follow-up. Conclusions: The use of LESS applies to many pediatric urologic procedures, ideally for ablative procedures or simple reconstructive efforts. The use of adjacent fascial puncture sites for instrumentation can obviate the need for a commercial port or multiple trocars.
Descritores: Procedimentos Cirúrgicos Urológicos/métodos
Doenças Urológicas/cirurgia
Laparoscopia/métodos
-Complicações Pós-Operatórias
Procedimentos Cirúrgicos Urológicos/instrumentação
Reprodutibilidade dos Testes
Estudos Retrospectivos
Resultado do Tratamento
Laparoscopia/instrumentação
Duração da Cirurgia
Tempo de Internação
Limites: Humanos
Masculino
Feminino
Lactente
Pré-Escolar
Criança
Adolescente
Responsável: BR1.1 - BIREME


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Id: biblio-840854
Autor: Emiliani, Esteban; Talso, Michele; Baghdadi, Mohammed; Barreiro, Aarón; Orosa, Andrea; Serviàn, Pol; Gavrilov, Pavel; Proietti, Silvia; Traxer, Olivier.
Título: Evaluation of the Spies TM modalities image quality
Fonte: Int. braz. j. urol;43(3):476-480, May.-June 2017. tab, graf.
Idioma: en.
Resumo: Introduction The Spies™ system (Karl-Storz®) was introduced into digital ureteroscopy to improve endoscopic vision. To date, there is no data to either indicate which of the Spies modalities is better for improving diagnosis and treatment procedures, nor to compare the modalities in terms of image quality. The aim of this study was to evaluate and compare the image quality of five Spies™ modalities (SM) to the standard white light in an in-vitro model. Materials and Methods Two standardized grids and 3 stones of different composition were recorded in white light and the 5SM (Clara, Chroma, Clara+Chroma), Spectra A and B) using 4 standardized aqueous scenarios. Twelve templates were done in order to simultaneously compare the same objective in the different modalities. Six urologists, five medical students, five urology residents, and five persons not involved with urology evaluated each video on a scale of 1 (very bad) to 5 (very good). Results Comparing white light to SM, subjects scored better the quality of Clara and Clara+Chroma than white light (p=0.0139 and p<0.05) and scored worse Spectra A and B (p=0.0005 and p=0.0023)). When comparing Clara to the other SM, it was ranked equivalent to Clara+Chroma (p=0.67) and obtained a higher rank than Chroma, Spectra A and B (p<0.05, p=0.0001 and p=0.0001). In the multivariate analysis mean scores were higher among urologists. Conclusion In all analyzed scenarios, the subjects ranked Clara and Clara+Chroma as the modalities with better image quality compared to white light.
Descritores: Doenças Urológicas/diagnóstico por imagem
Ureteroscopia/instrumentação
Neoplasias/diagnóstico por imagem
-Litotripsia a Laser
Ureteroscopia/métodos
Ureteroscópios
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Feminino
Adulto
Adulto Jovem
Tipo de Publ: Estudo Comparativo
Estudo de Avaliação
Responsável: BR1.1 - BIREME


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Id: biblio-840832
Autor: Okland, Tyler; Karimkhani, Chante; Pederson, Hannah; Boyers, Lindsay N; Sawyer, Mark D; Rove, Kyle O; Kenny, McCabe C; Steinberg, Steven; Naghavi, Mohsen; Dellavalle, Robert P.
Título: Research prioritization of men's health and urologic diseasess
Fonte: Int. braz. j. urol;43(2):289-303, Mar.-Apr. 2017. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objectives We sought to determine whether disease representation in the Cochrane Database of Systematic Reviews (CDSR) reflects disease burden, measured by the Global Burden of Disease (GBD) Study as disability-adjusted life-years (DALYs). Materials and Methods Two investigators performed independent assessment of ten men’s health and urologic diseases (MHUDs) in CDSR for systematic review and protocol representation, which were compared with percentage of total 2010 DALYs for the ten conditions. Data were analyzed for correlation using Spearman rank analysis. Results Nine of ten MHUDs were represented by at least one CDSR review. There was a poor and statistically insignificant positive correlation between CDSR representation and disease burden (rho = 0.42, p = 0.23). CDSR representation was aligned with disease burden for three conditions, greater than disease burden for one condition, and less than disease burden for six conditions. Conclusions These results yield high-quality estimates to inform future research prioritization for MHUDs. While prioritization processes are complex and multi-faceted, disease burden should be strongly considered. Awareness of research priority setting has the potential to minimize research disparities on a global scale.
Descritores: Doenças Urológicas
Literatura de Revisão como Assunto
Pesquisa Biomédica/tendências
Pesquisa Biomédica/estatística & dados numéricos
Saúde do Homem/tendências
Saúde do Homem/estatística & dados numéricos
-Fatores de Tempo
Neoplasias Urológicas
Estatísticas não Paramétricas
Anos de Vida Ajustados por Qualidade de Vida
Carga Global da Doença
Infertilidade Masculina
Limites: Humanos
Masculino
Responsável: BR1.1 - BIREME


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Id: biblio-892945
Autor: Ozmen, Zafer; Aktas, Fatma; Uluocak, Nihat; Albayrak, Eda; Altunkas, Aysegül; Çelikyay, Fatih.
Título: Magnetic resonance imaging and clinical findings in seminal vesicle pathologies
Fonte: Int. braz. j. urol;44(1):86-94, Jan.-Feb. 2018. tab, graf.
Idioma: en.
Resumo: ABSTRACT Purpose Congenital and acquired pathologies of the seminal vesicles (SV) are rare diseases. The diagnosis of SV anomalies is frequently delayed or wrong due to the rarity of these diseases and the lack of adequate evaluation of SV pathology. For this reason, we aimed to comprehensively evaluate SV pathologies and accompanying genitourinary system abnormalities. Materials and Methods Between March 2012 and December 2015, 1455 male patients with different provisional diagnosis underwent MRI. Congenital and acquired pathology of the SV was identified in 42 of these patients. The patients were categorized according to their SV pathologies. The patients were analyzed in terms of genitourinary system findings associated with SV pathologies. Results SV pathologies were accompanied by other genitourinary system findings. Congenital SV pathologies were bilateral or predominantly in the left SV. Patients with bilateral SV hypoplasia were diagnosed at an earlier age compared to patients with unilateral SV agenesis. There was a significant association between abnormal signal intensity in the SV and benign prostate hypertrophy (BPH) and patient age. Conclusion SV pathologies are rare diseases of the genitourinary system. The association between seminal vesicle pathology and other genitourinary system diseases requires complete genitourinary system evaluation that includes the seminal vesicles.
Descritores: Glândulas Seminais/anormalidades
Glândulas Seminais/diagnóstico por imagem
Doenças Urológicas/diagnóstico por imagem
-Glândulas Seminais/patologia
Doenças Urológicas/patologia
Anormalidades Congênitas/patologia
Anormalidades Congênitas/diagnóstico por imagem
Imageamento por Ressonância Magnética
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Adulto
Idoso
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-1134250
Autor: Gomes, Cristiano M; Favorito, Luciano A; Henriques, João Victor T; Canalini, Alfredo F; Anzolch, Karin M. J; Fernandes, Roni de C; Bellucci, Carlos H. S; Silva, Caroline S; Wroclawski, Marcelo L; Pompeo, Antonio Carlos L; Bessa J, Jose de.
Título: Impact of COVID-19 on clinical practice, income, health and lifestyle behavior of Brazilian urologists
Fonte: Int. braz. j. urol;46(6):1042-1071, Nov.-Dec. 2020. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objectives To evaluate the impact of COVID-19 on clinical practice, income, health and lifestyle behavior of Brazilian urologists during the month of April 2020. Materials and Methods A 39-question, web-based survey was sent to all urologist members of the Brazilian Society of Urology. We assessed socio-demographic, professional, health and behavior parameters. The primary goal was to evaluate changes in urologists' clinical practice and income after two months of COVID-19. We also looked at geographical differences based on the incidence rates of COVID-19 in different states. Results Among 766 urologists who completed the survey, a reduction ≥ 50% of patient visits, elective and emergency surgeries was reported by 83.2%, 89.6% and 54.8%, respectively. An income reduction of ≥ 50% was reported by 54.3%. Measures to reduce costs were implemented by most. Video consultations were performed by 38.7%. Modifications in health and lifestyle included weight gain (32.9%), reduced physical activity (60.0%), increased alcoholic intake (39.9%) and reduced sexual activity (34.9%). Finally, 13.5% of Brazilian urologists were infected with SARS-CoV-2 and about one third required hospitalization. Urologists from the highest COVID-19 incidence states were at a higher risk to have a reduction of patient visits and non-essential surgeries (OR=2.95, 95% CI 1.86 - 4.75; p< 0.0001) and of being infected with SARS-CoV-2 (OR=4.36 95%CI 1.74-10.54, p=0.012). Conclusions COVID-19 produced massive disturbances in Brazilian urologists' practice, with major reductions in patient visits and surgical procedures. Distressing consequences were also observed on physicians' income, health and personal lives. These findings are probably applicable to other medical specialties.
Descritores: Pneumonia Viral/complicações
Pneumonia Viral/epidemiologia
Procedimentos Cirúrgicos Urológicos/estatística & dados numéricos
Doenças Urológicas/terapia
Urologia/estatística & dados numéricos
Padrões de Prática Médica/estatística & dados numéricos
Carga de Trabalho
Infecções por Coronavirus
Pandemias
Urologistas/psicologia
Betacoronavirus
Estilo de Vida
-Qualidade de Vida
Doenças Urológicas/complicações
Doenças Urológicas/epidemiologia
Padrões de Prática Médica/tendências
Brasil
Inquéritos e Questionários
Telemedicina
Urologistas/estatística & dados numéricos
SARS-CoV-2
COVID-19
Limites: Humanos
Tipo de Publ: Estudo de Avaliação
Responsável: BR1.1 - BIREME


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Id: biblio-1134294
Autor: Chen, Wei; Wang, Xiao-Meng; Fu, Guang-Qing; Zeng, Xiang; Wu, Cui-Ping; Liang, Yong; Liu, Jian-Hui; Teoh, Jeremy Yuen-Chun.
Título: Special strategies and management of urological diseases during the COVID-19 pandemic: initial experiences from a Medical Center of China
Fonte: Int. braz. j. urol;46(supl.1):19-25, July 2020. graf.
Idioma: en.
Resumo: ABSTRACT Although urological diseases are not directly related to coronavirus disease 2019 (COVID-19), urologists need to make comprehensive plans for this disease. Urological conditions such as benign prostatic hyperplasia and tumors are very common in elderly patients. This group of patients is often accompanied by underlying comorbidities or immune dysfunction. They are at higher risk of COVID-19 infection and they tend to have severe manifestations. Although fever can occur along with urological infections, it is actually one of the commonest symptoms of COVID-19; urologists must always maintain a high index of suspicion in their clinical practices. As a urological surgeon, how we can protect medical staff during surgery is a major concern. Our hospital had early adoption of a series of strict protective and control measures, and was able to avoid cross-infection and outbreak of COVID-19. This paper discusses the effective measures that can be useful when dealing with urological patients with COVID-19.
Descritores: Pneumonia Viral/epidemiologia
Doenças Urológicas/complicações
Infecções por Coronavirus/epidemiologia
-Pneumonia Viral/prevenção & controle
Doenças Urológicas/diagnóstico
Doenças Urológicas/terapia
China
Infecções por Coronavirus/prevenção & controle
Betacoronavirus
SARS-CoV-2
COVID-19
COVID-19/prevenção & controle
Limites: Humanos
Masculino
Idoso
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


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Srougi, Miguel
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Id: biblio-1154446
Autor: Mazzucchi, Eduardo; Torricelli, Fabio C. M; Vicentini, Fabio C; Marchini, Giovanni S; Danilovic, Alexandre; Batagello, Carlos A; Srougi, Miguel; Nahas, William C.
Título: The impact of COVID-19 in medical practice. A review focused on Urology
Fonte: Int. braz. j. urol;47(2):251-262, Mar.-Apr. 2021. tab, graf.
Idioma: en.
Resumo: ABSTRACT COVID-19 pandemic is a rapidly spreading virus that is changing the World and the way doctors are practicing medicine. The huge number of patients searching for medical care and needing intensive care beds led the health care system to a burnout status especially in places where the care system was already overloaded. In this setting, and also due to the absence of a specific treatment for the disease, health authorities had to opt for recommending or imposing social distancing to relieve the health system and reduce deaths. All other medical specialties nondirectly related to the treatment of COVID-19 had to interrupt or strongly reduce their activities in order to give room to seriously ill patients, since no one knows so far the real extent of the virus damage on human body and the consequences of doing non deferrable procedures in this pandemic era. Despite not been a urological disease, the urologist needs to be updated on how to deal with these patients and how to take care of himself and of the medical team he works with. The aim of this article is to review briefly some practical aspects of COVID-19 and its implications in the urological practice in our country.
Descritores: Doenças Urológicas/terapia
Urologia/tendências
Pandemias
COVID-19
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


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Id: biblio-1093006
Autor: Mora-Bautista, Víctor Manuel.
Título: Congenital anomalies of the kidney and the urinary tract in Down syndrome children / Anomalías congénitas del riñón y del tracto urinario en niños con síndrome de Down
Fonte: Rev. colomb. nefrol. (En línea);5(1):54-60, Jan.-June 2018.
Idioma: en.
Resumo: Abstract Congenital anomalies of the kidney and the urinary tract are congenital diseases related to Down syndrome. There are not specific recommendations. A literature review was made using key words through scientific databases (Pubmed, Science Direct, Ovid, Scholar Google, UpToDate). CAKUT in Down syndrome include glomerulonephritis, kidney agenesis, microcysts, ectopic kidneys, hydronephrosis and hydroureter, even posterior urethral valves and anterior urethra obstruction, and hypospadias. It will be feasible thinking about performing kidney and urinary tract ultrasonography in first week of life. Urethrocystography must be done in selected cases. If urinary incontinence exists, patient has a history of urinary tract infections, vesicoureteral reflux has been diagnosed or if a decrease in glomerular filtration rate has been identified, we should check for vesical dysfunction associated to symptoms and urologic evaluation could be needed (uroflowmetry or urodynamics). It might be adequate an annual clinical follow up of kidney function.

Resumen Las anomalías del riñón y el tracto urinario hacen parte de las anomalías congénitas relacionadas con el síndrome de Down. No existen recomendaciones específicas. Para el presente estudio, se hizo una revisión por palabras clave en bases de datos (Pubmed, Science Direct, Ovid, Google académico, UpToDate). Se encontró que, en niños con síndrome de Down, las enfermedades congénitas del riñón y el tracto urinario abarcan glomerulonefritis, agenesia renal, microquistes, riñones ectópicos, hidronefrosis, hidrouréter, valvas uretrales posteriores, obstrucción de la uretra anterior e hipospadias. Con respecto a los procesos diagnósticos, sería razonable realizar una ecografia renal durante la primera semana de vida. Adicionalmente, la uretrocistografía sería útil solo en casos seleccionados. Si hay un historial de incontinencia urinaria o de infecciones urinarias de repetición; o se detecta un reflujo vesicoureteral, o caída de la tasa de filtración glomerular estimada, debería considerarse la existencia de una disfunción vesical asociada y podría ser pertinente una evaluación urológica (uroflujometría o urodinamia). Sería recomendable hacer un seguimiento clínico anual de la función renal.
Descritores: Anormalidades Congênitas
Sistema Urinário
Síndrome de Down
-Doenças Urológicas
Colômbia
Nefropatias
Limites: Humanos
Masculino
Feminino
Criança
Tipo de Publ: Revisão
Responsável: CO661.9


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Id: lil-324906
Autor: Martínez Labrada, Rafael S; Arias Ortiz, Armando; Garlobo García, Griselda.
Título: Morbilidad en Consulta externa de urología / Morbidity in the Urology Outpatient Department
Fonte: Rev. cuba. cir;41(1):33-37, ene.-mar. 2002. tab.
Idioma: es.
Resumo: Se realizó un estudio prospectivo, longitudinal y descriptivo para conocer el comportamiento de la morbilidad de las principales afecciones urológicas en la consulta externa del Servicio de Urología del Hospital Provincial General Docente Carlos Manuel de Céspedes. Se estudiaron 120 pacientes en el período comprendido entre el 1ro. de enero y el 31 de diciembre de 1998. El adenoma prostático predominó en la serie (37,1 porciento). La edad media de los pacientes fue de 51,25 años (ñ19,52), y predominó el grupo de 30 a 44 años (30,9 porciento). El sexo masculino dominó en la serie (90,8 porciento). Predominó la concordancia diagnóstica negativa entre los diferentes grupos de remitentes (55,8 porciento). El examen físico fue el método diagnóstico principal (54,7 porciento). Las afecciones urológicas halladas en la investigación son fácilmente diagnosticables por examen físico, lo cual puede ser realizado por un médico general con entrenamiento mínimo(AU)

A prospective, longitudinal and descriptive study was conducted to know the behavior of morbidity of the main urologic affections at the Outpatient Department of the Urology Service of Carlos Manuel de Céspedes Provincial General Teaching Hospital. 120 patients were studied from January 1st to December 31st, 1998. The prostatic adenoma predominated in the series (37.1 percent). The average age of the patients was 51.25 percent ( ± 19.52). The age group 30-44 (30.9 percent) prevailed. Most of the patients were males (90.8 percent). The negative diagnostic concordance predominated among the different groups of referred patients (55.8 percent). The physical examination was the main diagnostic method (54.7 percent). The urologic affections found in our investigation may be easily diagnosed by physical examination, which can be made by a general physician with a minimum training(AU)
Descritores: Hiperplasia Prostática/diagnóstico
Doenças Urológicas/epidemiologia
Unidade Hospitalar de Urologia
-Epidemiologia Descritiva
Estudos Prospectivos
Estudos Longitudinais
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Responsável: CU1.1 - Biblioteca Médica Nacional



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