RESUMEN
OBJECTIVE: Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy). MATERIAL AND METHODS: 47 patients with a genetically verified diagnosis of AS (aged 2 to 20 years, mean age 8.5 years; 26 boys and 21 girls) were included. The diagnosis was established by DNA methylation in 32 patients and sequencing in 15 patients (12 cases of deletion and 3 cases of nucleotide substitution were identified). RESULTS: Of the 47 patients, 45 have epilepsy. The seizures start up to 5 years of age, inclusive. For treatment, patients received various antiepileptic drugs. Long-term follow-up of epilepsy was followed in 40 of 47 patients, and 36 of 40 achieved drug remission. After several years without seizures, 24 out of 30 had a relapse, which was quickly stopped in 23 out of 30 patients. The severity of the disease is influenced by the nature of the mutation and the length of the deletion, as well as persistent epileptic seizures. The most effective AEDs in patients in our study are: in monotherapy, valproic acid, levetiraceiam, ethosuximide; in duotherapy, valproic acid in combination with levetiracetam or ethosuximide, less often levetiracetam with ethosuximide. CONCLUSIONS: Early genetic diagnosis of AS facilitates the selection of AET.
Asunto(s)
Síndrome de Angelman , Epilepsia , Síndrome de Angelman/complicaciones , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/tratamiento farmacológico , Anticonvulsivantes/uso terapéutico , Niño , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Etosuximida/uso terapéutico , Femenino , Humanos , Levetiracetam/uso terapéutico , Masculino , Convulsiones/complicaciones , Ácido Valproico/uso terapéuticoRESUMEN
The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease. The combination of psychomotor retardation, polymorphic neurological symptoms and physical changes in the form of isolated splenomegaly suggested the diagnosis of Niemann-Pick type C disease. DNA testing was carried out using direct automated sequencing. The patient was treated with miglustat.
Asunto(s)
Trastornos Mentales , Enfermedad de Niemann-Pick Tipo C , Niño , Femenino , Humanos , Trastornos Mentales/diagnóstico , Enfermedad de Niemann-Pick Tipo C/diagnósticoRESUMEN
To define clinical presentations of visual auras and to reveal their clinical, encephalographic and neuroimaging correlates, we examined 23 patients, aged from 5 to 25 years (mean 14±6 years), with focal forms of epilepsy. Patients had visual auras regardless of the etiology of epilepsy which developed immediately before epileptic seizures or were isolated. Patients had simple or complex visual hallucinations, the former occurring more frequently, visual illusions and ictal amaurosis. Positive visual phenomena were noted more frequently than negative ones. In most of the patients, visual hallucinations were associated with the pathological activity in cortical occipital regions of the brain and, in some cases, in temporal and parietal regions. The different pathologies (developmental defects, post-ischemic, atrophic and other disturbances) identified by MRI were found in a half of patients.
Asunto(s)
Epilepsias Parciales/diagnóstico , Alucinaciones/diagnóstico , Trastornos de la Visión/diagnóstico , Adolescente , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/fisiopatología , Femenino , Alucinaciones/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Trastornos de la Visión/fisiopatología , Adulto JovenRESUMEN
The chromosomal composition of the Zernokormovaya 169, Istra 1, Ostankinskaya, and Otrastayushchaya 38 cultivars of octoploid partial wheat-wheatgrass hybrids was studied using genomic in situ hybridization (GISH). Differentiation of wheatgrass chromosomes by the distribution of the GISH signal along the chromosome was revealed. The wheatgrass chromosomes of the hybrid cultivars studied in the work differed in the type of differentiation, centromeric index, and absolute size. The cytogenetic distinctions of these chromosomes revealed by us can be used in making crosses and in studying the transmission through gametes of additional wheatgrass chromosomes.
Asunto(s)
Hibridación in Situ/métodos , Poa/genética , Triticum/genética , Quimera , Cromosomas/ultraestructura , Cromosomas de las Plantas , Cruzamientos Genéticos , Hibridación Genética , CariotipificaciónAsunto(s)
Síndrome de Down/diagnóstico , Síndrome de Down/embriología , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/embriología , Adulto , Femenino , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/embriología , Síndrome de Lennox-Gastaut , Masculino , Prevalencia , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/embriologíaRESUMEN
The trial included 302 patients with focal and generalized forms of epilepsy, aged from 18 to 73 years (mean age 33.23+/-12.73 years). Oxcarbazepine (trileptal) was prescribed in accordance to recommendations and titration schemes (continuous and single-stage) conventional in Russia. Trileptal was prescribed as the start antiepileptic therapy to 46.1% of patients. In other patients, antiepileptic drugs used previously were withdrawn mainly to their low clinical efficacy and poor tolerability. The duration of the study was 12 weeks. The efficacy was assessed by the number of patients with seizures reductions of 50%. The positive therapeutic response was found in 93.2% of patients who completed the trial, and the complete reduction of seizures was achieved in 34.9%. There were also positive changes in the seizure duration, frequency of consciousness change and other post seizure phenomena. The low frequency and intensity of adverse effects during the treatment with trileptal was observed: there were 93 adverse effects in 60 patients included in the trial; 3 (3.2%) of these effects were considered as severe (dizziness in one patient, sleepiness in two patients). The adverse effects disappeared without any additional treatment.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Carbamazepina/análogos & derivados , Epilepsia Generalizada/tratamiento farmacológico , Adolescente , Adulto , Anciano , Carbamazepina/uso terapéutico , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oxcarbazepina , Adulto JovenRESUMEN
Fourteen patients, aged from 5 to 14 years, with syndrome of electrical status epilepticus during slow sleep (ESESS) have been studied. The absence of epileptic attacks was observed in 21.5% of patients and diagnosis was established by a combination of continuous diffuse epileptiform activity with marked cognitive disturbances. In 78.5% patients, epileptic attacks presented as follows: pharyngeal and oral, hemicephalgia (100% patients with attacks), hemiclonic (18%), atypical absences (27%), negative myoclonus (18%), automotor (18%), focal adverse with vomiting (18%), secondary generalized (36%). Drugs of choice were valproate (depakine) and topamax in patients with attacks; suxilep and frisium in the absence of attacks and in case of continuous diffuse epileptiform activity on the sleep EEG. Two variants have been singled out by the character of ESESS syndrome. The first one, a "symptom variant", was featured by mostly hemiclonic, secondary generalized and automotor epileptic attacks, presence of continuous regional or lateral, less frequent diffuse epileptiform activity, detected by the local structural lesions in MRI, marked cognitive disturbances persisting after stopping of the attacks. The second ("idiopathic") variant is characterized by normal development of children before attack manifestation, appearance of mostly "rolandic" attacks, atypical absences and negative myoclonus, presence of exclusively continuous diffuse epileptiform activity in the phase of slow sleep, standard MRI results (moderate cortical subatrophy in single cases), cessation or substantial decrease of cognitive disturbances after attack stopping. It is emphasized that prognosis of ESESS syndrome should be considered separately with regard to attacks and cognitive disturbances. A prognosis for attacks is always favorable. Cognitive disturbances despite the therapy can persist for a long time.
Asunto(s)
Antiinflamatorios/uso terapéutico , Anticonvulsivantes/uso terapéutico , Electroencefalografía , Estado Epiléptico , Adolescente , Niño , Preescolar , Esquema de Medicación , Femenino , Humanos , Masculino , Índice de Severidad de la Enfermedad , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/fisiopatologíaRESUMEN
Thirty-three patients, aged 3-29 years, with the following epileptic types: symptomatic forehead (15), symptomatic temporal (6), symptomatic occipital (2), juvenile myoclonic, in combination with eyelid myoclonus syndrome with absences, (5), epilepsy with isolated generalized seizures (3) and rolandic epilepsy (2), were treated with topamax. A medication dose was 50-200 mg per day in children younger 12 years and 100-550 mg per day in those older 12 years and in adults. The results obtained suggest the high efficacy and well tolerability of topamax in monotherapy of epilepsy. Therapeutic effect was achieved in 28 out of 33 patients (84.8%), i.e. seizures stopping--in 18 patients (54.5%). Monotherapy was mostly effective in symptomatic forehead epilepsy: seizures stopped in 53.3% patients and a frequency of seizures reduced in 33.3%. Side-effects were detected only in 18% cases, they were mostly transient and resulted in treatment withdrawal in 6% patients only.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Fructosa/análogos & derivados , Fructosa/uso terapéutico , Adolescente , Adulto , Factores de Edad , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/efectos adversos , Niño , Preescolar , Electroencefalografía , Epilepsia/diagnóstico , Estudios de Seguimiento , Fructosa/administración & dosificación , Fructosa/efectos adversos , Humanos , Imagen por Resonancia Magnética , Masculino , Factores de Tiempo , Topiramato , Resultado del TratamientoRESUMEN
The study aimed at investigating epileptic attack's semiology and other electroclinical characteristics in Landau-Kleffner syndrome as well as therapeutic efficacy. Six patients with Landau--Kleffner syndrome, 5 boys, 1 girl, aged 6-10 years, mean age 7.5 years, have been analyzed. Epileptic attacks were observed only in 3 patients with debut at the age of 2.5-6 years (mean 4 years). In 50% of the cases, the attacks were not detected. The types of epileptic attacks were specified as follows: atypical absences--3 patients; pharyngo-oral--2; secondary generalized--2; atonic falls--1; hemiconvulsive--1. In routine EEG study, regional epileptiform activity was observed in all the patients, being localized in central temporal (3 cases), posterior temporal (1) and fronto-temporal (1) leads. In 3 cases (50%), diffusive epiactivity was also detected. During sleep, emergence of prolonged diffuse epiactivity was revealed for all the patients, with appearance of electrical status epilepticus during slow sleep in 50%. Valproates in dosage 30-60 mg/kg daily were highly effective for stopping epileptic seizures. Significant improvement of speech functions was observed only if antiepileptics sulthiame (ospolot) or clobasam (frizium) were used in addition to basic therapy. Clobasam in dosage 0.5-0.75 mg/kg daily was the most efficient in blockade of EEG diffuse epileptiform activity, reduction of aphasia symptoms and behavior improvement.
Asunto(s)
Encéfalo/fisiopatología , Electroencefalografía , Síndrome de Landau-Kleffner/diagnóstico , Síndrome de Landau-Kleffner/fisiopatología , Anticonvulsivantes/uso terapéutico , Encéfalo/anatomía & histología , Niño , Diagnóstico Diferencial , Femenino , Humanos , Síndrome de Landau-Kleffner/tratamiento farmacológico , Imagen por Resonancia Magnética , Masculino , Índice de Severidad de la Enfermedad , Ácido Valproico/uso terapéuticoAsunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia del Lóbulo Frontal/tratamiento farmacológico , Fructosa/análogos & derivados , Fructosa/uso terapéutico , Adolescente , Adulto , Niño , Preescolar , Quimioterapia Combinada , Femenino , Humanos , Masculino , Topiramato , Resultado del TratamientoAsunto(s)
Atetosis/complicaciones , Atetosis/genética , Corea/complicaciones , Corea/genética , Anticonvulsivantes/uso terapéutico , Atetosis/tratamiento farmacológico , Carbamazepina/uso terapéutico , Niño , Corea/tratamiento farmacológico , Diazepam/uso terapéutico , Quimioterapia Combinada , Humanos , Masculino , Linaje , Índice de Severidad de la Enfermedad , Ácido Valproico/uso terapéuticoRESUMEN
The study aimed to differentiate, according to clinical and electroencephalographical criteria, between the most frequent types of myoclonus epilepsy--Unverricht-Lundborg disease (ULD) and Lafora disease (LD). Two patients with ULD and two with LD, aged 13-16 years, have been examined. In all cases, the diagnosis of myoclonus epilepsy has been verified by using molecular genetic analysis. The differential diagnostic criteria have been ascertained for ULD and LD: the earlier age-of-onset in ULD comparing to LD (8.8 and 12.5 years, respectively); tonic clonic paroxysms in ULD and partial ones with visual aura in LD; a presence of nonepileptical subcortical myoclonus, according to EEG data (visual monitoring); negative myoclonus emerging in manifested stage of LD; appearing of regional epileptiform activity for posterior regions on EEG in LD; more rapid progressiveness of extra pyramidal disturbances with organic dementia outcome in myoclonus LD.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Adolescente , Encéfalo/fisiopatología , Diagnóstico Diferencial , Electroencefalografía , Epilepsias Mioclónicas/fisiopatología , Femenino , Humanos , Masculino , Índice de Severidad de la Enfermedad , SíndromeRESUMEN
A series of 13 sporadic renal cell carcinomas was analyzed for the specific chromosome rearrangements after serial xenografting into immunodeficient mice. Seven tumors displayed genetic traits of the conventional subtype and 5 showed genetic features of the papillary subtype. In all the xenografted conventional tumors, we observed loss of 3p, as well as loss of the 9p21 region and of the long arm of chromosome 14, both considered as markers of a poor prognosis. In the xenografted papillary tumors, a duplication of chromosome arm 8q was observed concomitant with the duplication of the 7q31 region. The association of the 7q31 and 8q22 approximately qter duplicated regions was also observed for one conventional tumor. The latency of tumor take was found to be reduced and the median time to passage statistically shorter for all tumors which presented the associated duplication of the 7q31 and 8q22 approximately qter regions. The proto-oncogene NOV (nephroblastoma overexpressed gene) maps to 8q24.1 and is overexpressed in some Wilms tumors. It could be an interesting candidate gene, since its level of expression and release in the culture medium was found to be increased in all of the fast growing tumors analyzed.
Asunto(s)
Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/genética , Deleción Cromosómica , Proteínas Inmediatas-Precoces , Péptidos y Proteínas de Señalización Intercelular , Neoplasias Renales/diagnóstico , Neoplasias Renales/genética , Mutación , Animales , Northern Blotting , Western Blotting , Línea Celular , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 3 , Cromosomas Humanos Par 7 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Factor de Crecimiento del Tejido Conjuntivo , Duplicación de Gen , Humanos , Cariotipificación , Ratones , Ratones SCID , Trasplante de Neoplasias , Proteína Hiperexpresada del Nefroblastoma , Proteínas Oncogénicas Virales/genética , Pronóstico , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas/genéticaRESUMEN
The paper presents an analysis of clinical-neuropsychological peculiarities of the syndrome of atypical benign partial childhood epilepsy (pseudolennox syndrome) of 6 patients (3 boys, 3 girls). An age of the onset of the disease was between 1.5-4 years. There was polymorphism of paroxysms, their high frequency with an obligate presence of hemifacial fits and atypical absences. Night generalized tonic-clonic attacks and the falling attacks were found in 67% of the patients. Spectrum of the neurological disorders included disorders of speech and a slight cerebella symptomatology. Regional "rolandic" activity and diffuse epileptiformed disorders, increasing into a phase of a slow sleep, were registered by EEG. Resistance to anticonvulsive therapy was revealed. The authors had demonstrated a nosologic independence of pseudolennox syndrome and had considered worth while to pick it out in a group of cryptogenic partial forms of epilepsy together with the epileptic aphasia of Landu-Kleffner and an epilepsy with the continuous peak-waves during the slow sleep.
Asunto(s)
Epilepsias Parciales/diagnóstico , Epilepsia Tipo Ausencia/diagnóstico , Epilepsia Rolándica/diagnóstico , Anticonvulsivantes/uso terapéutico , Afasia/diagnóstico , Afasia/etiología , Encéfalo/patología , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/complicaciones , Epilepsias Parciales/tratamiento farmacológico , Epilepsia Tipo Ausencia/complicaciones , Epilepsia Tipo Ausencia/tratamiento farmacológico , Epilepsia Rolándica/complicaciones , Epilepsia Rolándica/tratamiento farmacológico , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
Molecular cytogenetic analysis of several sporadic papillary renal cell carcinomas and of their xenografts in immunodeficient mice had previously allowed us to delimit a minimal overrepresented region of chromosome 7 shared by all of them to band 7q31. We have refined the location of the overlapping region to the junction of the subbands 7q31.2 and 7q31.3 by reverse painting with two differently labelled probes prepared from the small chromosome 7 derivatives microdissected from the cells of two distinct tumours. This small region was shown to contain the MET proto-oncogene, present at three to four copies per cell as determined by Southern blot analysis. The increased copy number of the MET gene was found to be associated with its overexpression at the mRNA level. However, no change in MET copy number or expression level was observed in the cells from two xenografted tumours serially transplanted into immunodeficient mice, as compared to those from the corresponding initial tumours. Our results indicate that expression of the MET proto-oncogene above a critical threshold is required for the maintenance of the tumorigenic phenotype of at least some papillary renal cell carcinomas, but does not further increase during tumour progression.
Asunto(s)
Carcinoma Papilar/genética , Carcinoma de Células Renales/genética , Cromosomas Humanos Par 7/genética , Regulación Neoplásica de la Expresión Génica , Neoplasias Renales/genética , Proteínas de Neoplasias/biosíntesis , Proteínas Proto-Oncogénicas c-met/biosíntesis , Proto-Oncogenes , Animales , Southern Blotting , Carcinoma Papilar/patología , Carcinoma de Células Renales/patología , Pintura Cromosómica , Cromosomas Artificiales de Levadura , Humanos , Neoplasias Renales/patología , Ratones , Ratones SCID , Metástasis de la Neoplasia , Proteínas de Neoplasias/genética , Trasplante de Neoplasias , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas c-met/genética , ARN Mensajero/biosíntesis , ARN Neoplásico/biosíntesis , Trasplante Heterólogo , Células Tumorales CultivadasRESUMEN
Benign myoclonic epilepsy in infancy (NMEI) is one of rare epileptic syndromes. 5 patients (all female sex) aged 4-16 years were observed. NMEI debuted at the age from 7 months till 2.5 years (mean age 1.3 years). Pathology of pregnancy and labor, disorders in both psychomotor development and genetic predisposition were not found. In all the cases the disease began with typical transitory repeated myoclonic paroxysms of different intensity and frequency, without loss of consciousness and with primary involvement of the muscles of the neck and the upper extremities. Most patients had muscular hypotension, mild coordinatory disorders, delayed psycho-speech development, mental retardation, EEG signs of generalized epileptic activity. Valproates, suxilep, clonazepam and lamotrigin (lamiktal) were used for treatment. The most pronounced effect was achieved using either monotherapy with valproates (depakin) or a combination depakin + lamiktal. A stable clinical-encephalographic remission was achieved in all the patients, but during puberty in 2 patients (15 and 16 years old) rare generalized convulsive fits debuted. High frequency of intellectual-mnestic disorders were found even after a complete remission. So benign definition concerns only a course of the fits, but not NMEI prognosis.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Encéfalo/diagnóstico por imagen , Preescolar , Quimioterapia Combinada , Electroencefalografía , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Lactante , RadiografíaRESUMEN
Integration sites for HTLV-1 and HIV-1proviruses were detected by FISH on the chromosomes of HTHIV27 cells persistently infected by HIV-1 (strain IIIB). HTLV-1 signals were found on 9 loci of chromosomes 4, 6, 9, 15 and 16. Integration sites of GC-rich HTLV-1 provirus are located in GC-rich isochores, confirming an 'isopycnic' integration, namely an integration in which the GC level of the host sequences around the integration site match the GC level of the provirus. This conclusion is not only derived from the compositional map of human chromosomes, but also from HTLV-1 hybridization on compositional fractions of human DNA. Integration of GC-poor HIV-1 provirus was found on 4 loci of chromosomes 2, 7, 17 and 19. One copy of a complete HIV-1 provirus, which is active, was integrated in H1 isochores, whereas other defective copies were located in GC-poor L isochores. These results are discussed in terms of regional integration of retroviral sequences.
Asunto(s)
Cromosomas Humanos , VIH-1/genética , Virus Linfotrópico T Tipo 1 Humano/genética , Integración Viral , Composición de Base , Línea Celular , Bandeo Cromosómico , Mapeo Cromosómico , ADN/análisis , ADN/genética , Humanos , Hibridación Fluorescente in SituRESUMEN
To establish human renal cell carcinoma (RCC) xenografts for preclinical studies, 55 renal tumors (33 primary and 22 metastatic lesions) were transplanted subcutaneously into severe combined immunodeficient mice. Twenty of 49 evaluable tumors (40.8%) grew with a median latency period of 89 days (36 to 209 days) from the day of engraftment. Tumor growth was stabilized after the fifth passage with a median time between passages of 38 days (19 to 80 days). Tumorigenicity was correlated with the metastatic phenotype of the tumor (54% success rate, p = 0.007) and with reduced survival of patients. Despite a possible evolution of histological features and tumor grading, established RCC xenografts were comparable to parental tumors, as assessed by karyotype and DNA-ploidy analyses. Molecular cytogenetic analysis also revealed specific genetic alterations characterizing distinct RCC types that were constant in parental and corresponding xenografts. In addition, this xenograft model has permitted the selection of minor tumor subclones with a proliferative advantage and minimal overexpressed chromosomal regions. We conclude that severe combined immunodeficient mice are useful recipients for the establishment of long-term RCC xenografts that can be used as valuable tools to evaluate the activity of new therapeutic approaches and to study biological parameters determining in vivo aggressiveness of human RCC.
Asunto(s)
Carcinoma de Células Renales/patología , Ratones SCID/cirugía , Inmunodeficiencia Combinada Grave/cirugía , Adulto , Anciano , Animales , Femenino , Humanos , Cariotipificación , Masculino , Ratones , Persona de Mediana Edad , Trasplante de Neoplasias , Pronóstico , Trasplante HeterólogoRESUMEN
For the first time the detailed description of continuous cell line HTHIV27, remaining stable for more than 10 years, has been made. The stability of all biological characteristics and high productivity of the strain has made it possible to use it as a HIV producing strain for the construction of a diagnostic test system for the detection of antibodies to HIV. The lysate obtained on the basis of HIV producing cells HTHIV27 has been shown to possess a number of advantages in comparison with the analogous system based on lytically infected cells. On the basis of strain HTHIV27 an in vitro cell system for the analysis of the specific activity of chemotherapeutic preparations intended for the inhibition of HIV has been developed. The use of this newly obtained continuous cell line HTHIV27 has been shown to permit the evaluation of the antiviral activity of compounds, characterized by different molecular mechanisms for the suppression of viral activity.
Asunto(s)
Infecciones por VIH/virología , VIH-1/crecimiento & desarrollo , Linfocitos T/virología , Cultivo de Virus , Fármacos Anti-VIH/farmacología , Línea Celular , Células Cultivadas/química , Células Cultivadas/ultraestructura , Efecto Citopatogénico Viral , Anticuerpos Anti-VIH/análisis , Infecciones por VIH/diagnóstico , VIH-1/efectos de los fármacos , VIH-1/patogenicidad , Humanos , Cariotipificación , Linfocitos T/química , Linfocitos T/ultraestructura , Proteínas Virales/análisisRESUMEN
Xenografts from four metastatic renal cell carcinomas (RCCs) were established in immunodeficient mice. All tumors exhibited cytogenetic features specific for the papillary subtype, namely, partial or total polysomy of chromosomes 7 and 17 and integrity of 3p. Cytogenetic analysis of the initial and xenografted tumors indicated that although clonal characteristics were consistently maintained in xenografts derived from metastases, a minor clone had been selected for in the xenografts derived from the primary tumors. Reverse painting and comparative genomic hybridization (CGH) allowed us to localize minimal overrepresented genomic regions to 7q31, where the MET protooncogene is located, and to 17q. Other overrepresented regions were 8q in all xenografts and Xq22-qter in three of them. The gain of genetic material from these regions may be a key factor ensuring the papillary nature of RCCs and their survival in xenografts.