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1.
Radiología (Madr., Ed. impr.) ; 59(3): 196-208, mayo-jun. 2017. tab, ilus
Article in Spanish | IBECS | ID: ibc-162811

ABSTRACT

La resonancia magnética multiparamétrica (RMmp) prostática ha tenido recientemente un extenso desarrollo, convirtiéndose en una herramienta clave en el diagnóstico y la toma de decisiones terapéuticas en relación al carcinoma prostático (CaP). El rápido desarrollo tecnológico, así como de lectura (PIRADS V2), exigen una permanente actualización del conocimiento en esta área. El objetivo de este artículo es presentar una revisión actualizada sobre los aspectos técnicos, los modelos de lectura y las indicaciones de la RMmp prostática en relación al CaP, en el marco de una visión multidisciplinaria. Actualmente está establecida la utilidad de la RMmp ante un antígeno específico de próstata elevado y una biopsia prostática previa negativa; para estadificación tumoral; en la evaluación de candidatos a vigilancia activa; en la planificación de tratamientos focales y para la evaluación de la recurrencia tumoral. Otras indicaciones, como su uso en pacientes con sospecha de CaP pero sin biopsia previa, aunque se realizan en algunos centros, aún requieren una exhaustiva valoración coste-beneficio para extender su empleo (AU)


Prostatic multi-parametric magnetic resonance imaging (MP-MRI) has recently had a wide development becoming a key tool in the diagnostic and therapeutic decisions in prostate cancer (Pca). The fast development both in technology and in reading (PIRADS V2) requires a continuous updating of knowledge within this area. The aim of this article is to present an updated revision of technical aspects, reading patterns and prostatic MP-MRI in Pca, with a multidisciplinary approach. Currently guidelines establish the use of the MP-MRI when there is a high PSA and a negative prostatic biopsy; tumor staging; evaluation in candidates to active surveillance; focal treatments plans and tumoral recurrence evaluation. Although it is used in other indications in some centers, like its use in patients suspicious of Pca but with no previous biopsy, there is still the need of a cost/benefit assessment for its use to be wider (AU)


Subject(s)
Humans , Male , Aged , Aged, 80 and over , Prostatic Neoplasms , Magnetic Resonance Imaging/trends , Magnetic Resonance Spectroscopy , Carcinoma , Magnetic Resonance Spectroscopy/classification , Pathology/trends , Neoplasm Staging
2.
Radiología (Madr., Ed. impr.) ; 59(2): 94-99, mar.-abr. 2017. ilus
Article in Spanish | IBECS | ID: ibc-161429

ABSTRACT

El cáncer de próstata es un problema sanitario de gran magnitud por distintos motivos. Se trata de un cáncer muy frecuente, pero con una tasa de mortalidad muy baja debido a la presencia de un tipo de cáncer no significativo, indolente, mucho más frecuente, y un tipo de cáncer agresivo, significativo; menos frecuente. La metodología diagnóstica del cáncer utilizada de rutina ha sido realizar biopsias sistemáticas a ciegas, con resultados de tasa de detección bajas y con la posibilidad de detectar cáncer de próstata de bajo riesgo, no significativo, con lo que supone de sobrediagnosticar y sobretratar un cáncer indolente. La posibilidad de incluir la RMmp (resonancia magnética multiparamétrica) en el manejo diagnóstico para mejorar la eficacia en detectar el cáncer agresivo y reducir el sobrediagnóstico del cáncer indolente supone un cambio en la estrategia diagnóstica del cáncer de próstata. El presente artículo pretende actualizar el manejo en el diagnóstico del cáncer de próstata mediante la inclusión de la RMmp (AU)


For various reasons, prostate cancer is a major public health problem. It is a very common cancer, but has a very low mortality rate because it comprises two types of disease: one insignificant, indolent, and much more common, and the other aggressive, significant, and much less common. The routine diagnostic approach to prostate cancer has been systematic blind biopsies, which has low detection rates and might detect low risk, insignificant prostate cancer, leading to overdiagnosis and overtreatment of indolent cancers. The possibility of including multiparametric magnetic resonance imaging in the diagnostic management to improve the detection of aggressive cancer while reducing the overdiagnosis of indolent cancer represents a change in the diagnostic management. This article updates knowledge about the diagnostic management of prostate cancer including multiparametric magnetic resonance imaging (AU)


Subject(s)
Humans , Male , Prostatic Neoplasms , Magnetic Resonance Spectroscopy/instrumentation , Early Diagnosis , Biopsy/instrumentation , Prostate-Specific Antigen/analysis
3.
Radiologia ; 59(3): 196-208, 2017.
Article in English, Spanish | MEDLINE | ID: mdl-28236452

ABSTRACT

Prostatic multi-parametric magnetic resonance imaging (MP-MRI) has recently had a wide development becoming a key tool in the diagnostic and therapeutic decisions in prostate cancer (Pca). The fast development both in technology and in reading (PIRADS V2) requires a continuous updating of knowledge within this area. The aim of this article is to present an updated revision of technical aspects, reading patterns and prostatic MP-MRI in Pca, with a multidisciplinary approach. Currently guidelines establish the use of the MP-MRI when there is a high PSA and a negative prostatic biopsy; tumor staging; evaluation in candidates to active surveillance; focal treatments plans and tumoral recurrence evaluation. Although it is used in other indications in some centers, like its use in patients suspicious of Pca but with no previous biopsy, there is still the need of a cost/benefit assessment for its use to be wider.


Subject(s)
Magnetic Resonance Imaging , Prostatic Neoplasms/diagnostic imaging , Humans , Magnetic Resonance Imaging/methods , Male , Prostatic Neoplasms/pathology , Prostatic Neoplasms/therapy
4.
Radiologia ; 59(2): 94-99, 2017.
Article in English, Spanish | MEDLINE | ID: mdl-28012728

ABSTRACT

For various reasons, prostate cancer is a major public health problem. It is a very common cancer, but has a very low mortality rate because it comprises two types of disease: one insignificant, indolent, and much more common, and the other aggressive, significant, and much less common. The routine diagnostic approach to prostate cancer has been systematic blind biopsies, which has low detection rates and might detect low risk, insignificant prostate cancer, leading to overdiagnosis and overtreatment of indolent cancers. The possibility of including multiparametric magnetic resonance imaging in the diagnostic management to improve the detection of aggressive cancer while reducing the overdiagnosis of indolent cancer represents a change in the diagnostic management. This article updates knowledge about the diagnostic management of prostate cancer including multiparametric magnetic resonance imaging.


Subject(s)
Magnetic Resonance Imaging , Prostatic Neoplasms/diagnostic imaging , Decision Trees , Humans , Male , Practice Guidelines as Topic , Prostatic Neoplasms/pathology
5.
Actas urol. esp ; 40(6): 339-352, jul.-ago. 2016. ilus, tab
Article in Spanish | IBECS | ID: ibc-154327

ABSTRACT

Contexto: Durante muchos años, la detección del carcinoma prostático (CaP) y su manejo terapéutico se basó fundamentalmente en el antígeno prostático específico, el tacto rectal y la biopsia prostática. Sin embargo, estos parámetros poseen conocidas limitaciones. La resonancia magnética multiparamétrica (RMmp) prostática ha tenido en los últimos años un extenso desarrollo, aportando información morfológica y funcional. El objetivo es presentar una revisión actualizada de los alcances y las limitaciones de la RMmp prostática en relación con el CaP, en el marco de una visión multidisciplinaria. Adquisición de evidencia: Se realizó una revisión de la literatura en PubMed, de los artículos referidos a «RMmp/Estadificación/CaP/detección/vigilancia activa/planificación terapéutica/posterapeútica». Se incluyeron 4 revisiones sistemáticas y otros artículos publicados en revistas de alto factor de impacto dentro del área de Radiología y Urología. Síntesis de evidencia: La RMmp aporta información morfológica y funcional respecto al CaP. Esta información está integrada en el modelo de lectura Prostate Imaging Reporting and Data System, clasificándose la probabilidad de carcinoma clínicamente significativo en una escala del 1 al 5. Actualmente está establecida la utilidad de la RMmp en pacientes con antígeno prostático específico elevado y biopsia prostática previa negativa; estadificación tumoral en casos seleccionados; evaluación en los pacientes candidatos a vigilancia activa; planificación de tratamientos focales y evaluación de la persistencia o recurrencia tumoral. Conclusiones: La RMmp actualmente cumple un papel relevante en el diagnóstico y la toma de decisiones terapéuticas del CaP. El uso aún más extendido de la técnica requerirá una valoración coste/beneficio


Context: For many years, the detection of prostate cancer (PC) and the management of its therapy have been based primarily on prostate-specific antigen, rectal examination and prostate biopsy. However, these parameters have known limitations. Multiparametric magnetic resonance imaging (mpMRI) for prostate cancer has undergone extensive development in recent years, providing morphological and functional information. The aim of this study is to present an updated review of the scope and limitations of prostatic mpMRI for PC, in the framework of a multidisciplinary vision. Acquisition of evidence: We conducted a literature review (in PubMed) of articles referencing «mpMRI/staging/ PC/detection/active surveillance/therapy planning/post-therapy». We included 4 systematic reviews and other articles published in high impact-factor journals within the field of radiology and urology. Summary of the evidence: MpMRI provides morphological and functional information concerning PC. This information is integrated into the Prostate Imaging Report and Date System, classifying the probability of clinically significant carcinoma on a scale from 1 to 5. The usefulness of mpMRI is currently being established for patients with high prostate-specific antigen levels and prior negative prostate biopsy; tumour staging in selected cases; assessment of patients who are candidates for active surveillance; the planning of focal treatments; and the assessment of tumour persistence and recurrence. Conclusions: MpMRI currently fills a relevant role in the diagnosis and therapeutic decision-making of PC. More widespread use of the technique requires a cost/benefit analysis


Subject(s)
Humans , Male , Middle Aged , Aged , Magnetic Resonance Spectroscopy/methods , Prostatic Neoplasms/diagnosis , Prostate-Specific Antigen/analysis , Sensitivity and Specificity , Prostatectomy , Neoplasm Recurrence, Local/diagnosis , Neoplasm Staging/methods
6.
Actas Urol Esp ; 40(6): 339-52, 2016.
Article in English, Spanish | MEDLINE | ID: mdl-26920095

ABSTRACT

CONTEXT: For many years, the detection of prostate cancer (PC) and the management of its therapy have been based primarily on prostate-specific antigen, rectal examination and prostate biopsy. However, these parameters have known limitations. Multiparametric magnetic resonance imaging (mpMRI) for prostate cancer has undergone extensive development in recent years, providing morphological and functional information. The aim of this study is to present an updated review of the scope and limitations of prostatic mpMRI for PC, in the framework of a multidisciplinary vision. ACQUISITION OF EVIDENCE: We conducted a literature review (in PubMed) of articles referencing "mpMRI/staging/ PC/detection/active surveillance/therapy planning/post-therapy". We included 4 systematic reviews and other articles published in high impact-factor journals within the field of radiology and urology. SUMMARY OF THE EVIDENCE: MpMRI provides morphological and functional information concerning PC. This information is integrated into the Prostate Imaging Report and Date System, classifying the probability of clinically significant carcinoma on a scale from 1 to 5. The usefulness of mpMRI is currently being established for patients with high prostate-specific antigen levels and prior negative prostate biopsy; tumour staging in selected cases; assessment of patients who are candidates for active surveillance; the planning of focal treatments; and the assessment of tumour persistence and recurrence. CONCLUSIONS: MpMRI currently fills a relevant role in the diagnosis and therapeutic decision-making of PC. More widespread use of the technique requires a cost/benefit analysis.


Subject(s)
Magnetic Resonance Imaging , Prostatic Neoplasms/diagnostic imaging , Humans , Magnetic Resonance Imaging/methods , Male , Neoplasm Staging , Prostatic Neoplasms/pathology , Urology
7.
Fetal Diagn Ther ; 34(3): 172-5, 2013.
Article in English | MEDLINE | ID: mdl-23485930

ABSTRACT

Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p. A similar anomaly described in a postnatal patient suggests ring chromosome as a possible cause of PKS. Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH.


Subject(s)
Chromosome Disorders/genetics , Isochromosomes , Adult , Chromosomes, Human, Pair 12/genetics , Comparative Genomic Hybridization , Female , Humans , Karyotype , Mosaicism , Pregnancy , Prenatal Diagnosis
8.
Actas Fund. Puigvert ; 31(1): 28-33, ene. 2012. ilus, tab
Article in Spanish | IBECS | ID: ibc-102018

ABSTRACT

INTRODUCCIÓN: El síndrome del cascanueces renal producido por una vena renal izquierda retro-aórtica (VRIR) es excepcional. Si produce clínica significativa, el tratamiento es quirúrgico (transposición de vena renal) MATERIAL Y MÉTODO: Se presenta un caso clínico y se revisa brevemente la literatura. RESULTADOS: Tras la transposición de la VRIR la paciente evolucionó correctamente. RESUMEN: La cirugía en casos de síndrome del cascanueces por VRIR es una opción útil para controlar la clínica en estas situaciones (AU)


INTRODUCTION: Renal nutcracker syndrome caused by left retro-aortic renal vein (LRRV) is an exceptional condition. In case of significant clinical problems, surgical treatment is required (renal vein transposition). MATERIAL AND METHOD: We report a case of LRRV and literature is reviewed briefly. RESULTS: After the transposition of the LRRV the patient developed properly. SUMMARY: The surgery in cases of nutcracker syndrome by LRRV is useful to control symptoms (AU)


Subject(s)
Humans , Female , Young Adult , Renal Veins/surgery , Renal Nutcracker Syndrome/surgery , Renal Veins/abnormalities , Cardiovascular Abnormalities/surgery , Hematuria/etiology
9.
Hum Reprod ; 26(12): 3486-93, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22016414

ABSTRACT

BACKGROUND: Most individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism in somatic and germinal tissues in KS, the meiotic competence of 47,XXY germ cells and the aneuploidy rate of post-reductional cells. METHODS: Five patients with KS previously diagnosed as pure 47,XXY have been studied. Samples from four donors were processed as controls. The chromosome constitution of lymphocytes, buccal mucosa and testicular tissue was assessed by interphase fluorescence in situ hybridization for chromosomes X, Y and 18. In meiotic figures, sex chromosome number and pairing was confirmed. RESULTS: 46,XY cell lines were observed in all patients and tissues analysed. The degree of mosaicism (mean ± SD) differed among tissues (lowest in lymphocytes: 4.8 ± 2.5%; highest in Sertoli cells: 42.3 ± 11.1%). Meiotic figures were found in three cases (KS1, KS2 and KS5), all of them showed an XY complement. Hyperhaploid post-reductional cells were found in all patients (range: 3.3-36.4%) and increased rates versus controls (P< 0.05) were observed. CONCLUSIONS: Diagnosis of homogeneous KS based on lymphocyte karyotyping should be contrasted in other tissues. Mucosa cells could help to better approximate the degree of germ cell mosaicism. Our results indicate that 47,XXY germ cells are not meiotically competent. Increased post-reductional aneuploidy rate is related to meiotic errors in 46,XY cells. Appropriate genetic counselling is recommended in KS.


Subject(s)
Genetic Counseling , Klinefelter Syndrome/genetics , Mosaicism , Adult , Humans , In Situ Hybridization, Fluorescence , Infertility, Male/genetics , Male , Risk Assessment
10.
Cytogenet Genome Res ; 135(2): 93-101, 2011.
Article in English | MEDLINE | ID: mdl-21934280

ABSTRACT

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms. In this paper, we describe a girl with a complex de novo copy number gain at Xq28 and non-skewed X-inactivation pattern that causes mental retardation and motor and language delay. This rearrangement implies triplication of the MECP2 and IRAK1 genes, but it does not span other proximal genes located in the common minimal region of patients affected by the MECP2 duplication syndrome. We conclude that the triplication leads to a severe phenotype due to random X-inactivation, while the preferential X chromosome inactivation in healthy carriers may be caused by a negative selection effect of the duplication on some proximal genes like ARD1A or HCFC1.


Subject(s)
Gene Duplication , Mental Retardation, X-Linked/genetics , Methyl-CpG-Binding Protein 2/genetics , X Chromosome Inactivation , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child , Developmental Disabilities/pathology , Face/abnormalities , Female , Humans , In Situ Hybridization, Fluorescence , Syndrome
11.
Nefrología (Madr.) ; 31(3): 292-298, jun. 2011. ilus
Article in Spanish | IBECS | ID: ibc-103201

ABSTRACT

Introducción: La esclerosis tuberosa (ET) es una enfermedad sistémica, de herencia autosómica dominante, ocasionada por mutaciones en dos genes (TSC1 y TSC2), que causan la aparición de tumores (angiolipomas [AML], angiofibromas, astrocitomas, etc.). La proliferación inadecuada y constante que existe en la ET puede ser bloqueada por inhibidores de la kinasa mTOR (mammalian target of rapamycin), como la rapamicina. Material y métodos: Se han incluido 17 pacientes afectados de ET y, al menos, un AML mayor de 2 cm de diámetro diagnosticado por resonancia magnética (RM). Han recibido tratamiento con rapamicina durante 12 meses. Los niveles plásmáticos se han mantenido entre 4 y 8 ng/dl. El tamaño del AML se ha monitorizado semestralmente mediante RM abdominal. Resultados: A los 12 meses de la inclusión, con la RM se ha objetivado una disminución del tamaño del AML en todos los pacientes incluidos, mostrando una reducción de, al menos, un 50% en el 82,4% (14/17; intervalo de confianza [IC] 95% [56,57%, 96,20%]). El porcentaje medio de reducción fue del 66,3% (IC95 [56,9%, 75,6%]; p <0,0001). Los principales efectos secundarios observados han sido: aftas orales (5/17); hipertrigliceridemia (3/17); microcitosis e hipocromía (3/17); diarrea (2/17); acné (1/17); pielonefritis aguda (1/17), y proteinuria (1/17). Conclusiones: Los datos clínicos preliminares sugieren que la rapamicina puede desempeñar un papel beneficioso en el tratamiento de la ET. Nuestra experiencia en 17 pacientes tratados durante 12 meses demuestra seguridad y eficacia en la reducción de AML (AU)


Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin. Material and methods: At present, our study includes 17 patients with TS. All had at least one AML greater than 2cm in diameter diagnosed by MRI. They received rapamycin during 12 months. Plasma levels remained stable between 4-8ng/dl. The AML size was monitored every six months by abdominal MRI. Results: At 12 months of inclusion, MRI indicated a decrease in the size of AML in all patients showing at least a 50% reduction in 82.4% (14/17, 95% CI [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% CI [56.9%, 75.6%], P<.0001). The major side effects observed were: oral aphthous ulcers (5/17); hypertriglyceridemia (3/17); microcytosis and hypochromia (3/17); diarrhea (2/17); acne (1/17); acute pyelonephritis (1/17); and proteinuria (1/17). Conclusions: These preliminary clinical data suggest that rapamycin can play a beneficial role in the treatment of TS. Our experience in 17 patients treated for 12 months demonstrates safety and efficacy in reducing AML volume (AU)


Subject(s)
Humans , Angiomyolipoma/drug therapy , Sirolimus/pharmacokinetics , Tuberous Sclerosis/drug therapy , TOR Serine-Threonine Kinases/antagonists & inhibitors
12.
Eur Radiol ; 17(4): 1066-73, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17072617

ABSTRACT

The purpose of this study was to compare the diagnostic accuracy of contrast-enhanced ultrasound (CEUS) with spiral computed tomography (SCT) for the characterization of focal liver lesions (FLL) and to determine the degree of correlation between the two techniques. Seventy-seven FLL (45 hepatocellular carcinomas; 12 metastases; ten hemangiomas; two regenerating/dysplastic nodules; eight focal nodular hyperplasias) detected with ultrasound (US) were prospectively evaluated by CEUS using a second-generation contrast agent and SCT (with an interval of no more than one month between the two techniques). Independent observers made the most probable diagnosis and the results were compared with the final diagnoses (histology n = 59; MRI n = 18). Statistical analysis was performed by the Chi-square and Kappa tests. CEUS provided a correct, specific diagnosis in 69/77 (90%) of the FLL, while SCT did so in 67/77 (87%). The sensitivity, specificity, and diagnostic accuracy for malignancy were 91%, 90%, and 91%, respectively, for CEUS and 88%, 89%, and 88%, respectively, for SCT. No statistically significant difference was found between CEUS and SCT in the characterization of FLL (p > 0.05). In addition, agreement between the two imaging techniques was good (k = 0.75). We conclude that CEUS and SCT provide a similar diagnostic accuracy in the characterization of FLL, with a good degree of correlation between the two techniques.


Subject(s)
Contrast Media , Liver Neoplasms/diagnostic imaging , Liver Neoplasms/diagnosis , Tomography, Spiral Computed , Female , Humans , Male , Middle Aged , Prospective Studies , Ultrasonography
14.
Prog. diagn. trat. prenat. (Ed. impr.) ; 17(2): 96-98, jun. 2005. ilus
Article in Es | IBECS | ID: ibc-69606

ABSTRACT

La región del brazo largo del cromosoma 15(q11q13) es estructuralmente inestable. Más del 70 % de los pacientes con síndrome de Prader-Willi (PWS) y el 50 % de los pacientes con síndrome de Angelman (AS) presentan microdeleciones en esta zona. Presentamos un cromosoma 15 con un patrón de bandas G compatible con una deleción 15q11-13 observado en un diagnóstico prenatal citogenético en una gestante de 30 años referida por un TS patológico 1/196. La QF-PCR no presentó alteraciones. Debido a la existencia de un polimorfismo en la banda q11 que simula la deleción 15q11-13 realizamos una hibridación in situ para la región crítica de los síndromes PWS y AS, observándose dos copias de hibridación, descartando así la pérdida de material cromosómico relevante. El presente caso confirma una vez más que la detección de la deleción asociada a estos síndromes no es fiable por métodos citogenéticos convencionales, ya que existe un polimorfismo en la banda 15q11 que puede mimetizar la deleción de la banda 15q12


The proximal zone of the long arm of chromosome 15(q11q13) is a structurally unstable region of the genome, prone to breakage and rearrangement. The percentage of micro deletions associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) is over 70 % for PWS and equal to 50 % for AS. We report a case of an abnormal-appearing chromosome 15 with a G-band pattern suggesting a deletion in 15q11-13 in amniotic fluid. The sample was from a 30-years-old woman referred for TS 1/196. We used fluorescent in situ hybridization probes specific for PWS/AS regiondue to the existence of a polymorphic band q11 that could be interpreted as a deletion of 15q11-13. All probes are present in tow copies, indicating that no deletion is present in this region. In conclusion, our case confirms that conventional cytogenetic methods are not useful to detect such deletions, due to it polymorphisms can exist in the 15q11 band that potentially mask a deletion of 15q12 band (AU)


Subject(s)
Humans , Female , Pregnancy , Adult , Polymorphism, Genetic/genetics , Genetic Testing , Chromosomes, Human, Pair 15 , Prenatal Diagnosis , Diagnosis, Differential , In Situ Hybridization, Fluorescence
16.
Am J Med Genet ; 98(3): 216-23, 2001 Jan 22.
Article in English | MEDLINE | ID: mdl-11169558

ABSTRACT

We present three patients with variegated aneuploidy and premature centromere division (PCD), a rare chromosomal abnormality in humans. Comparison of these three and eight other patients with variegated aneuploidy related to PCD demonstrates a phenotype comprising most frequently microcephaly, CNS anomalies (with cerebellar affection and migration defects), mental retardation, pre-and postnatal growth retardation, flat and broad nasal bridge, apparently low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients. The occurrence of Wilms tumor in three patients, rhabdomyosarcoma in two others and acute leukemia in a fifth characterizes this condition as a chromosome or genome instability disorder with a high risk of malignancy. FISH studies in uncultured blood and buccal smear cells demonstrate that the random aneuploidies are not limited to cultured cells, but also occur in vivo.


Subject(s)
Aneuploidy , Centromere/genetics , Neoplasms/genetics , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adult , Child , Cytogenetic Analysis , Female , Genetic Predisposition to Disease , Humans , Infant , Intellectual Disability/complications , Intellectual Disability/genetics , Male , Microcephaly/complications , Microcephaly/genetics , Neoplasms/etiology
17.
Hum Reprod ; 13(2): 308-12, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9557828

ABSTRACT

Using fluorescent in-situ hybridization (FISH) we have evaluated, on a blind basis, the efficiency of flow cytometry to separate human X- and Y-chromosome bearing spermatozoa. Our data demonstrate that human spermatozoa can be sorted to a purity of 80-90% for X spermatozoa and of 60-70% for Y spermatozoa. Our results using triple FISH fully agree with the sorting treatment used in each case and corroborate the efficiency of the flow sorting technique for sperm sex selection. In these limited samples (200-500 sperm/donor), the frequencies of disomic or diploid spermatozoa were not increased when comparing the sorted samples with unselected samples or with our control series.


Subject(s)
Cell Separation/methods , Flow Cytometry/methods , Sex Preselection/methods , Spermatozoa/ultrastructure , X Chromosome , Y Chromosome , Female , Genetic Diseases, Inborn/genetics , Genetic Diseases, Inborn/prevention & control , Genetic Linkage , Haplotypes , Humans , In Situ Hybridization, Fluorescence/methods , Male , Reproducibility of Results , Reproductive Techniques
18.
Rev. argent. radiol ; 60(4): 279-82, oct.-dic. 1996. ilus
Article in Spanish | BINACIS | ID: bin-20552

ABSTRACT

Presentamos una paciente de 30 años de edad que padecía una actinomicosis toracoabdominal. Se realizaron Rx simple de tórax, ecografía abdóminopelviana y de partes blandas y cortes tomográfico toracoabdominales según protocolos estandarizados, comprobando un importante compromiso locorregional invasor de la enfermedad y confirmando el diagnóstico por anatomía patológica (AU)


Subject(s)
Humans , Female , Adult , Actinomycosis/diagnosis , Abdominal Abscess/etiology , Lung Abscess/etiology , Lung Abscess/diagnostic imaging , Actinomycosis/complications , Actinomycosis/diagnostic imaging , Tomography, X-Ray Computed/statistics & numerical data
19.
Rev. argent. radiol ; 60(4): 279-82, oct.-dic. 1996. ilus
Article in Spanish | LILACS | ID: lil-197042

ABSTRACT

Presentamos una paciente de 30 años de edad que padecía una actinomicosis toracoabdominal. Se realizaron Rx simple de tórax, ecografía abdóminopelviana y de partes blandas y cortes tomográfico toracoabdominales según protocolos estandarizados, comprobando un importante compromiso locorregional invasor de la enfermedad y confirmando el diagnóstico por anatomía patológica


Subject(s)
Humans , Female , Adult , Actinomycosis/diagnosis , Abdominal Abscess/etiology , Actinomycosis , Actinomycosis/complications , Lung Abscess , Lung Abscess/etiology , Tomography, X-Ray Computed
20.
Meat Sci ; 42(1): 103-10, 1996.
Article in English | MEDLINE | ID: mdl-22060305

ABSTRACT

The aim of this work was to study the influence of different conditions on the thiobarbituric acid (TBA) test, determined by the extractive method, as a measure of lipid oxidation in 'paté'. Different extracting agents (trichloroacetic acid and trichloroacetic acid in 2 M phosphoric acid), different concentrations of these acids (10, 15 and 20%), different reaction times and temperatures (35 min at 100 °C and 900 min at room temperature) and the effect of sulfanilamide additions were evaluated. All the samples were measured by HP 8451A Diode ARRAY spectrophotometer at 532 nm. Significant differences between 35 and 900 min of MA-TBA reaction time were found. Highest TBA numbers were found in samples with a reaction time of 35 min in a thermostatically controlled waterbath at 100 °C, rather than 900 min at room temperature. Lowest TBA numbers were found in samples with the addition of sulfanilamide rather than without it. The 10% TCA solution gave the best recovery percentages for 'paté', making it the preferred extractant.

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