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INTRODUCTION: To investigate the technical feasibility of optical biopsy (probe-based confocal laser endomicroscopy [pCLE]) during laparoscopy and by the vaginal route in the exploration of pelvic gynecological cancers. METHODS: Prospective study including 31 patients undergoing laparoscopic hysterectomy (benign or malignant indication). Confocal microlaparoscopy (analysis of tubes, ovaries, and depending on the type de cancer, pelvic adenopathies) and optical biopsy of the endometrium were first carried out by the vaginal route under general anesthesia. The surgical procedure was then carried out. RESULTS: Thirty-one consecutive patients were included (16 for benign hysterectomy, 12 for endometrial cancer and 3 for ovarian carcinoma). pCLE offered dynamic pictures that were correlated with the histopathological images. DISCUSSION AND CONCLUSION: pCLE provides high resolution imaging of cancerous and benign tissues in real-time similar to histopathological results. Both feasibility and safety were confirmed.
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Endoscopía/métodos , Procedimientos Quirúrgicos Ginecológicos/métodos , Laparoscopía/métodos , Adolescente , Adulto , Biopsia/métodos , Carcinoma Endometrioide/patología , Carcinoma Endometrioide/cirugía , Neoplasias Endometriales/patología , Neoplasias Endometriales/cirugía , Endoscopía/efectos adversos , Trompas Uterinas/patología , Trompas Uterinas/cirugía , Estudios de Factibilidad , Femenino , Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Humanos , Histerectomía/efectos adversos , Histerectomía/métodos , Laparoscopía/efectos adversos , Metástasis Linfática , Microscopía Confocal , Persona de Mediana Edad , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Proyectos Piloto , Reproducibilidad de los Resultados , Cirugía Asistida por Video/métodos , Adulto JovenRESUMEN
OBJECTIVES: The aim of the study is to compare placental monochorionic angioarchitecture complicated with twin-oligohydramnios-polyhydramnios sequence (TOPS), twin anemia polycythemia sequence (TAPS), twin reversed arterial perfusion (TRAP) and selective intra uterine growth restriction (sIUGR) to normal uneventful monochorionic placenta. METHODS: Between December 2012 and December 2015, monochorionic placenta has been studied at the multiple pregnancy care center of the Femme-Mère-Enfant Hospital in Lyon. Umbilical chords were catheterized and dye injected for macroscopic analysis of angioarchitecture at the anatomopathology department. Placentas treated with laser foetoscopic surgery were excluded. RESULTS: A total of 126 placentas were injected in the post-partum period. In total, 95% (119/126) of the placentas presented arteriovenous anastomoses (AVA). Median number of AVA was 7. The prevalence of at least one velamentous cord insertion was higher in TOPS and selective intrauterine growth restrictions P<0.01 and P<0.01 respectively, compared to uneventful pregnancies. Arterio-arterial anastomoses (AAA) were present in 82.7% (77/93) of uneventful placentas versus 33.3% of TOPS (P<0.01) and 28.5% of TAPS (P<0.01). The prevalence of veno-venous anastomoses was significantly higher in TOPS (P<0.01). All TAPS placentas showed marginal arteriovenous anastomoses. In TRAP placenta, the acardiac twin had no specific vascular territory. CONCLUSION: The study confirms literature findings on prevalence of vascular anastomoses in monochorial placentas, suggesting the protective role of AAA in TOPS and TAPS. The role of VVA is yet hard to determinate. Macroscopic observations of monochorionic placentas are valuable and essential keys for understanding, managing and treating anastomotic syndromes.
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Corion/irrigación sanguínea , Placenta/irrigación sanguínea , Complicaciones del Embarazo/patología , Embarazo Gemelar , Anastomosis Arteriovenosa/patología , Enfermedades en Gemelos/patología , Femenino , Retardo del Crecimiento Fetal/patología , Transfusión Feto-Fetal/patología , Humanos , Polihidramnios , Embarazo , Gemelos Monocigóticos , Cordón Umbilical/patologíaRESUMEN
AIM: To assess the feasibility of prophylactic salpingectomy during vaginal hysterectomy for benign pathology and the prevalence of occult tubal lesions. MATERIALS AND METHODS: In this prospective study from 09/01/2013 to 11/01/2014, patients who underwent vaginal hysterectomy with salpingectomy or salpingo-oophorectomy were included. The prevalence of bilateral salpingectomy with or without ovariectomy and the prevalence of histopathological and immunohistochemical (p53 expression) abnormalities were evaluated. RESULTS: Bilateral salpingectomy was performed in 51/69 patients (73.9%). An elevated BMI was statistically associated with a failure of the salpingectomy (29.4 vs 25.8; P=0.01). There was only one case of postoperative hemorrhage in the salpingectomy group. On the 51fallopian tubes, there were 4 (12.9%) immunohistochemical abnormalities "p53 signature". CONCLUSION: The recent tubal origin of most ovarian cancer cases raised the question of the prophylactic salpingectomy in the population with genetic risk as well as in the general population. Bilateral salpingectomy may be performed during vaginal hysterectomy. However caution is needed because we do not know what is the exact evolution of the p53 signatures.
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Enfermedades de las Trompas Uterinas/cirugía , Histerectomía Vaginal/normas , Neoplasias Ováricas/prevención & control , Ovariectomía/normas , Salpingectomía/normas , Adulto , Anciano , Estudios de Factibilidad , Femenino , Humanos , Persona de Mediana Edad , Prevalencia , Estudios ProspectivosRESUMEN
AIM: To generate a national biobank made up of samples of the highest quality for the purpose of inciting basic research on gestational trophoblastic diseases (GTD). MATERIAL AND METHODS: Three priority axes of research were defined to optimize the nature, method of collection, and storage of the samples. These are: to enhance our understanding of GTD, develop new diagnostic tests, and identify new therapeutic targets. The protocol for patient inclusion and sample processing was determined after extensive literature review and collaboration with international experts in the field of GTD. RESULTS: For each patient with a GTD and for control patients (legally induced abortions), chorionic villi, decidua and tumor samples (fresh, immersed in RNA-protective solution and fixed in formaldehyde), blood (serum, plasma, RNA, and peripheral blood mononuclear cells), urine (supernatant), and cell cultures of villous cytotrophoblasts are prospectively collected. Associations are then made between the collected samples and numerous clinical and biological data, such as human chorionic gonadotropic plasma levels following curettage in the case of a hydatidiform mole. CONCLUSION: Such a collection of high quality samples and their associated data open up new perspectives for both national and international collaborative research projects.
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Enfermedad Trofoblástica Gestacional , Bancos de Tejidos , Adulto , Femenino , Humanos , EmbarazoRESUMEN
Lymph node metastases in cervical and endometrial cancer are major prognostic factors. Lymph-nodal involvement determines adjuvant therapy. As imagery is not reliable to diagnose lymph node status, pelvic +/- para-aortic lymphadenectomy remains the gold standard. These surgical procedures are, however, responsible for specific morbidity: lymphocele and lymphedema. Sentinel lymph node procedure could avoid lymphadenectomy and their complications in cervical and endometrial cancer with good negative predictive values. We present actual indications, procedure and results of sentinel lymph node procedures in cervical and endometrial cancer.
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Adenocarcinoma/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Neoplasias Endometriales/diagnóstico , Biopsia del Ganglio Linfático Centinela/efectos adversos , Neoplasias del Cuello Uterino/diagnóstico , Adenocarcinoma/cirugía , Carcinoma de Células Escamosas/cirugía , Neoplasias Endometriales/cirugía , Femenino , Humanos , Metástasis Linfática , Linfedema/etiología , Linfocele/etiología , Estadificación de Neoplasias/métodos , Pronóstico , Neoplasias del Cuello Uterino/cirugíaRESUMEN
Ovarian dysgerminoma is the most common germinal tumor in women; however, a lot of different symptoms can lead to its diagnosis. In the two cases reported here, misdiagnosis of ectopic pregnancy was first done because of inappropriate secretion of HCG by the tumor. These two cases point out the particularity of dysgerminoma with its various secretion capacity. Conversely, facing a raised level of HCG in non-gravidic situation, physicians have to consider different gynaecological and extragynaecological hypothesis.
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Gonadotropina Coriónica/sangre , Disgerminoma/diagnóstico , Neoplasias Ováricas/diagnóstico , Embarazo Ectópico , Adulto , Gonadotropina Coriónica/metabolismo , Diagnóstico Diferencial , Disgerminoma/metabolismo , Disgerminoma/cirugía , Reacciones Falso Positivas , Femenino , Heterocigoto , Humanos , Hipotiroidismo/complicaciones , Neoplasias Ováricas/metabolismo , Neoplasias Ováricas/cirugía , Embarazo , Talasemia/complicacionesRESUMEN
The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To determine relationships between genotype and renal and hepatic abnormalities we correlated the severity of renal and hepatic histological lesions to the type of PKHD1 mutations in 54 fetuses (medical pregnancy termination) and 20 neonates who died shortly after birth. Within this cohort, 55.5% of the mutations truncated fibrocystin. The severity of cortical collecting duct dilatations, cortical tubule and glomerular lesions, and renal cortical and hepatic portal fibrosis increased with gestational age. Severe genotypes, defined by two truncating mutations, were more frequent in patients of less than 30 weeks gestation compared to older fetuses and neonates. When adjusted to gestational age, the extension of collecting duct dilatation into the cortex and cortical tubule lesions, but not portal fibrosis, was more prevalent in patients with severe than in those with a non-severe genotype. Our results show the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease. Their absence, however, does not guarantee survival to the neonatal period.
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Enfermedades Fetales/genética , Enfermedades Fetales/patología , Mutación , Riñón Poliquístico Autosómico Recesivo/genética , Riñón Poliquístico Autosómico Recesivo/patología , Receptores de Superficie Celular/genética , Genotipo , Humanos , Recién Nacido , FenotipoRESUMEN
OBJECTIVE: To illustrate and determine the significance of abnormal Sylvian fissure development (or abnormal operculization) in cases in which prenatal cerebral imaging is suggestive of underlying cortical dysplasia. METHODS: This was a retrospective study of 15 fetuses at 24-34 weeks in which abnormal operculization was identified on prenatal cerebral imaging and for which follow-up data were available. The imaging findings were correlated to macro- and microscopic neuropathological data (n = 11) or to postnatal clinical and imaging findings (n = 4). RESULTS: On microscopic examination of fetuses from 11 terminated pregnancies, abnormal operculization was associated with cortical dysplasia in four cases and the cortex was normal in seven. Abnormal operculization was associated with cortical dysplasia in only one of the four liveborn infants. Cases of abnormal Sylvian fissure development with normal cortical architecture were classified, according to associated anomalies of the central nervous system, into one of five groups: those with neural tube defects, microcephaly or frontal hypoplasia, glutaric aciduria, other cerebral abnormalities, and extracerebral anomalies. CONCLUSION: Abnormal operculization on prenatal imaging does not systematically reflect underlying cortical dysplasia. It may be related to extracortical factors such as abnormal cerebral volume or other developmental anomalies of the central nervous system. An understanding of the significance of abnormal Sylvian fissure development could be useful in integrating its analysis into a more general one of the whole central nervous system.
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Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/embriología , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Femenino , Edad Gestacional , Humanos , Lactante , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/diagnóstico , Embarazo , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
To describe the morphological stages of insular sulci and gyri development we carried out a macroscopical study on 21 human fetal brains, showing no anomalies, from 13 to 28 gestational weeks (GWs). Particular focus was given to morphological appearance during the development of insular and periinsular structures, especially the gyration and sulcation of the insula, central cerebral region and opercula, as well as the vascularization of these regions. The periinsular sulci and the central (insular and cerebral) sulci were the first macroscopical structures identified on the lateral surface of the human fetal cerebral hemisphere with earlier development on the right hemisphere. Here we describe five stages of insular gyral and sulcal development closely related to gestational age: stage 1: appearance of the first sulcus at 13-17 GWs, stage 2: development of the periinsular sulci at 18-19 GWs, stage 3: central sulci and opercularization of the insula at 20-22 GWs, stage 4: covering of the posterior insula at 24-26 GWs, stage 5: closure of the sylvian fissure at 27-28 GWs. We provide evidence that cortical maturation (sulcation and gyration) and vascularization of the lateral surface of the brain starts with the insular region, suggesting that this region is a central area of cortical development.
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Corteza Cerebral/embriología , Corteza Cerebral/fisiología , Desarrollo Fetal/fisiología , Feto/anatomía & histología , Edad Gestacional , Corteza Cerebral/anatomía & histología , Femenino , Humanos , EmbarazoRESUMEN
OBJECTIVES: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported. METHODS: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. RESULTS: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome. CONCLUSION: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available.
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Anomalías Múltiples/diagnóstico por imagen , Encefalopatías/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Ultrasonografía Prenatal , Anomalías Múltiples/sangre , Anomalías Múltiples/genética , Aborto Eugénico , Adulto , Encefalopatías/congénito , Encefalopatías/genética , Consanguinidad , Resultado Fatal , Femenino , Sangre Fetal/química , Enfermedades Fetales/sangre , Enfermedades Fetales/genética , Edad Gestacional , Humanos , Interferón-alfa/sangre , Imagen por Resonancia Magnética , Masculino , Embarazo , SíndromeAsunto(s)
Acil-CoA Deshidrogenasas/deficiencia , Glutaratos/orina , Proteínas Hierro-Azufre , Complejos Multienzimáticos/deficiencia , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH , Acil-CoA Deshidrogenasa , Células Cultivadas , Flavoproteínas Transportadoras de Electrones , Resultado Fatal , Ácidos Grasos/metabolismo , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/orina , Fibroblastos/citología , Fibroblastos/metabolismo , Flavoproteínas/metabolismo , Humanos , Recién Nacido , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/embriología , Errores Innatos del Metabolismo Lipídico/orina , MasculinoRESUMEN
We report a case of anophthalmia discovered after birth and discuss the need to resolve diagnostic difficulties and determine prognosis. This is an exceptional malformation which is particularly difficult to manage. It often occurs in the context of a complex malformation syndrome. Recent imaging techniques including magnetic resonance imaging help determine the degree of malformation and provide useful information for giving genetic advice to parents.
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Anoftalmos/diagnóstico , Diagnóstico Prenatal , Aborto Inducido , Amniocentesis , Anoftalmos/patología , Autopsia , Femenino , Humanos , Imagen por Resonancia Magnética , Ultrasonografía PrenatalRESUMEN
Parietal endometriosis is a rare disease. Its diagnosis and treatment are often difficult. We report 3 cases of parietal endometriosis occurring in cesarean and appendectomy scars. Clinical symptoms are not specific and may lead to erroneous diagnosis. Diagnosis is usually made on the histological exam of the resected lesion. Treatment of choice is complete surgical excision.
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Abdomen/cirugía , Cicatriz/complicaciones , Endometriosis/diagnóstico , Complicaciones Posoperatorias , Adulto , Apendicectomía , Cesárea , Diagnóstico Diferencial , Endometriosis/complicaciones , Femenino , HumanosRESUMEN
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.
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Anomalías Múltiples/genética , Cromosomas Humanos Par 11 , Anomalías Múltiples/etnología , África del Norte/etnología , Mapeo Cromosómico , Consanguinidad , Encefalocele/genética , Femenino , Marcadores Genéticos , Haplotipos , Homocigoto , Humanos , Hepatopatías/genética , Masculino , Repeticiones de Microsatélite , Medio Oriente/etnología , Linaje , Polidactilia/genéticaRESUMEN
A tetraploid fetus with an unusual facial appearance and multiple congenital anomalies (large cerebral lateral ventricles; lung, cardiac, and genital abnormalities) is reported. Chromosome analysis was performed on amniocytes and fetal blood lymphocytes. A comparison is made with other reported cases (nine liveborn infants and one 17.2-week-old fetus).
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Anomalías Múltiples/diagnóstico , Amniocentesis , Aneuploidia , Anomalías Múltiples/diagnóstico por imagen , Líquido Amniótico/citología , Femenino , Humanos , Recién Nacido , Embarazo , Ultrasonografía PrenatalAsunto(s)
Neoplasias Encefálicas/diagnóstico , Enfermedades Fetales/diagnóstico , Glioblastoma/diagnóstico , Neoplasias Encefálicas/patología , Resultado Fatal , Femenino , Enfermedades Fetales/patología , Glioblastoma/patología , Humanos , Imagen por Resonancia Magnética , Embarazo , Ultrasonografía PrenatalRESUMEN
Phase contrast examination of urine sediment of patients with the nephrotic syndrome shows cytolipiduria in 62.8% of cases. Cytolipiduria is mostly observed in patients between 20 and 80, and is, in most cases, associated to cytological features of glomerular and/or tubular injury. In absence of cytolipiduria, renal biopsy most often shows minimal change disease. Membranous glomerulonephritis is observed in most cases with high cytolipiduria. However, urine sediment is not predictive of renal histologic lesions and progressive glomerulonephritis can be observed in absence of cytolipiduria.
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Lípidos/orina , Síndrome Nefrótico/orina , Orina/citología , Adulto , Anciano , Femenino , Humanos , Riñón/patología , Masculino , Persona de Mediana Edad , Síndrome Nefrótico/patologíaRESUMEN
The authors evaluated red blood cell (RBC) morphology by phase contrast microscopy and identified casts and lipidic material in 4,448 urine sediments (US). Microhematuria was discovered on systematic examination in 1,186 apparently healthy patients (group I). Another 4,362 patients (group II) with microscopic or gross hematuria were being treated or evaluated for various renal or extrarenal diseases (renal transplantation excepted). Glomerular hematuria (GH) was observed in 93.1% of group I patients and in 58.0% of group II patients. GH and non-GH were observed together in 0.6% of cases. The origin of hematuria remained uncertain in 11.6% of cases. In GH, the other cytological findings were as follows: RBC casts were seen in 5.3% of group I and 20.5% of group II; granular and/or cellular casts were seen in 12.8% of group I and 39.6% of group II; and lipidic material was seen in 0.6% of group I and 8.8% of group II. Both groups showed a higher frequency of RBC casts, granular and/or cellular casts, and lipidic material in patients under 20. This method of investigation of urine, which is simple, rapid, inexpensive, and noninvasive, provides useful information for the clinician and avoids unnecessary investigations.
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Hematuria/etiología , Hemorragia/orina , Enfermedades Renales/orina , Glomérulos Renales , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Eritrocitos/patología , Femenino , Hematuria/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Over a one-year period, 31 episodes of acute renal failure in children have been studied for urine sediment by contrast phase microscopy (maintained diuresis: 15, oligoanuria: 16, dialysed patients: 9). The etiologies of acute renal failure were: sepsis = 8; nephrotoxicity = 7; hemolytic uremic syndrome = 5; acute nephritic syndrome = 3; hemodynamical changes = 4; obstructive renal failure = 2; others = 3; acute rejections after renal allograft were excluded. The first urine sediment examination was performed 5 days after the onset of renal failure, and has been controlled in 11 children. In 28 cases (90%), there was a good correlation between clinical, biological, ultrasonographic and pathological (4 cases) data. The mechanism of renal failure has been determined by urine sediment examination in most cases, sometimes allowing to rectify a previous diagnosis. The value of this examination seems to be more of anatomoclinical than of prognostic interest, mainly for definite (hemolytic uremic syndrome) or polyfactorial (oncohematological diseases) renal dysfunctions.
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Lesión Renal Aguda/orina , Lesión Renal Aguda/patología , Adolescente , Niño , Preescolar , Femenino , Hematuria/patología , Humanos , Lactante , Recién Nacido , Túbulos Renales/patología , Masculino , Estudios RetrospectivosRESUMEN
Living cells from the urinary tract can be examined by phase-contrast microscopy in a pellet obtained by centrifugation of 10 ml of freshly voided urine. Once these cells have been identified and classified according to their sources, their respective proportions can be evaluated, thus providing some information on the renal structures affected. Urine sediment examination was performed in 60 cases of acute renal failure in order to determine the relationship between the abnormalities encountered and the clinical or histological diagnosis. An abnormal sediment was always associated with parenchymal acute renal failure. Cellular debris and casts were abundant in acute tubular necrosis and less numerous in toxic acute renal failure than in failure resulting from shock. The finding of deformed erythrocytes was strongly suggestive of glomerular nephropathy, a diagnosis which was confirmed by renal biopsy in almost every case.