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1.
Arch Virol ; 148(1): 45-63, 2003 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-12536295

RESUMEN

Infection of newborn rats with Borna disease virus (BDV) leads to viral persistence in the central nervous system without overt signs of inflammation. Nevertheless, these rats display distinct behavioral and neurodevelopmental abnormalities. The molecular basis of the latter is still unknown. Using a cDNA array representing 1200 genes, we sought to identify cellular genes which are differentially expressed following perinatal BDV-infection. RNA samples prepared from different brain regions were analysed at various time points before or after BDV-induced defects become evident. In infected brains, we found upregulated expression of genes encoding brain fatty acid binding protein (B-FABP), beta2-microglobulin (beta2m) and, as described previously, the chemokine IP-10. Kinetic studies revealed sustained increased expression of B-FABP in infected frontal cortices beginning about three weeks p.i. Moreover, a slight transient increase of B-FABP expression in infected hippocampi was observed 3-5 weeks p.i. In situ hybridization studies combined with immunohistochemistry suggested that expression of beta2m was predominantly upregulated in glial cells and possibly also in some neurons. Employing cultured infected hippocampus slices and infected genetically modified mice, we provide evidence, that the observed upregulation of beta2m expression is not triggered by IFN-gamma, but rather by IFN-alpha/beta.


Asunto(s)
Enfermedad de Borna/genética , Virus de la Enfermedad de Borna/genética , Encéfalo/virología , Expresión Génica , Animales , Animales Recién Nacidos , Enfermedad de Borna/patología , Encéfalo/inmunología , Quimiocina CXCL10 , Quimiocinas/metabolismo , Quimiocinas CXC/metabolismo , Ácidos Grasos/metabolismo , Hipocampo/citología , Hipocampo/virología , Inflamación , Cinética , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Técnicas de Cultivo de Órganos , Unión Proteica , Ratas , Ratas Endogámicas Lew , Regulación hacia Arriba , Microglobulina beta-2/metabolismo
2.
J Reprod Fertil Suppl ; 57: 187-91, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11787148

RESUMEN

A new kit (ReproCHEK RELAXIN) intended for the diagnosis of pregnancy in bitches is now available for veterinary use. This assay measures relaxin concentrations in plasma and whole blood samples, and the presence of significant amounts of relaxin is indicative of pregnancy. A clinical trial was carried out to evaluate the performance of the test. Serial blood samples were collected on alternate days, and relaxin concentrations were determined from day 15 to day 35 after the LH surge (estimated by progesterone concentrations). Pregnancy was confirmed using ultrasonography. At the end of pregnancy, both the day of whelping and the size of the litter were recorded. Pregnancy was established in 61 bitches. The day that pregnancy was detected using the relaxin assay ranged from day 19 to day 28 after the LH surge and had a mean (+/- SD) of 25.4 +/- 2.5 days. The day of parturition was taken as a reference point, and pregnancy was detected from -46 to -38 days (mean -40.2 +/- 2.4 days) before parturition. False positives were not observed in pseudopregnant bitches (n = 16) or in the control group (30 anoestrous and ten unmated bitches). These results demonstrate that the new assay kit is an inexpensive, user-friendly and reliable technique for determining pregnancy.


Asunto(s)
Perros , Pruebas de Embarazo/veterinaria , Preñez/sangre , Relaxina/sangre , Anestro/sangre , Animales , Anticuerpos/sangre , Femenino , Hormona Luteinizante/sangre , Embarazo , Pruebas de Embarazo/métodos , Progesterona/sangre , Juego de Reactivos para Diagnóstico , Relaxina/inmunología , Sensibilidad y Especificidad , Factores de Tiempo
3.
Am J Med Genet ; 58(4): 299-304, 1995 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-8533837

RESUMEN

We present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band. Based on these 4 cases and review of the literature, the term "inverted terminal duplication" is proposed to designate specifically the type of inverted tandem duplication which involves the terminal band. A modification of the previous hypothesis of mechanism of origin is advanced. It is speculated further that a telomeric deletion of a meiotic chromosome followed by a U-type reunion of the chromatids, considered to be the first steps of the proposed mechanism of origin, may not be a rare gonadal event.


Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Inversión Cromosómica , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 7/ultraestructura , Cromosomas Humanos Par 8/ultraestructura , Discapacidad Intelectual/genética , Anafase , Trastornos de los Cromosomas , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Modelos Genéticos
4.
Am J Med Genet ; 46(1): 88-94, 1993 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-8494036

RESUMEN

De novo supernumerary small ring chromosomes have mainly been reported in pediatric patients with clinical abnormalities, thus, there may be bias of ascertainment. Reports on prenatally diagnosed cases with postnatal follow-up are rare. With the availability of chromosome specific alpha-satellite centromeric probes, the interest in these previously unidentifiable supernumerary small ring chromosomes has been rekindled [Callen et al.: J Med Genet 27: 155-159, 1990; Callen et al.: Am J Hum Genet 48:769-782, 1991; Callen et al.: Am J Med Genet 43:709-715, 1992]. We report on 2 prenatal diagnosis cases, where a ring was noted in 25 and 60% of the amniocytes, respectively. The initial G- and C-banding in Case 1 allowed an assumption of a chromosome 1 origin of the extra chromosome. This was confirmed by fluorescence in situ hybridization (FISH) studies using the appropriate probes. No similar initial assumption could be made in Case 2; thus, random trials with multiple probes were performed. A chromosome 19 origin in Case 2 was eventually concluded. The large amount of C-band positive material on the extra chromosome and the normal level 2 fetal ultrasound examination suggested a favorable outcome in both cases, but the possibility of mental retardation could not be ruled out. An empiric risk figure with regard to prenatally diagnosed de novo supernumerary small ring chromosomes is not available. Although the decision making processes of the parents were different, they both decided to continue the pregnancy. At age 9 months and 1 1/2 years both children, a girl and a boy, showed normal growth and development.


Asunto(s)
Amniocentesis , Aberraciones Cromosómicas , Asesoramiento Genético , Resultado del Embarazo , Cromosomas en Anillo , Adulto , Bandeo Cromosómico , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 19 , Sondas de ADN , Femenino , Estudios de Seguimiento , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Embarazo , Ultrasonografía Prenatal
6.
Ann Genet ; 36(4): 224-7, 1993.
Artículo en Inglés | MEDLINE | ID: mdl-8166430

RESUMEN

A de novo case of unbalanced 5p/17q translocation showing a concurrent 5p deletion and distal 17q duplication has initially eluded a definitive cytogenetic identification based on chromosome banding patterns and clinical features. But it is subsequently unequivocally identified by fluorescence in situ hybridization technique using various whole chromosome painting probes.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 5 , Familia de Multigenes , Translocación Genética , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Masculino
8.
J Med Genet ; 17(4): 319-21, 1980 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-6451705

RESUMEN

A phenotypically normal male was found to have a chromosomal complement of 45,X/46,XY/47,XY, +21. This mosaic pattern has been reported only twice before. Although the patient had apparently fathered two children, he now has progressive impotence, absence of sperm in the seminal fluid, atrophic testes, almost complete absence of germ cells in testicular biopsies, high plasma LH and FSH, and a low normal testosterone. There were no physical characteristics of Turner's or Down's syndromes except for dermatoglyphic features commonly associated with the latter. These observations in this patients emphasise the value of chromosomal studies in multiple tissues in cases of mosaicism with atypical clinical features.


Asunto(s)
Deleción Cromosómica , Síndrome de Down/genética , Hipogonadismo/genética , Mosaicismo , Cromosomas Sexuales , Cromosoma Y , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenotipo
9.
Anasth Intensivther Notfallmed ; 15(2): 107-18, 1980 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-7396099

RESUMEN

The effect of i. v. administered nicotinic acid was examined in 23 patients. Before the patients had undergone an AFB-operation. 11 cardiovascular parameters were quantitatively examined, calculated and statistically controlled. The authors observed a short but clear decrease of pressure and resistance in the arterial system after the injections of nicotinic acid. The aim of increasing the blood supply to poststenotic regions can however not be attained in this way. The decrease can rather lead to a lack of the blood supply of these regions. The authors could verify that the vascular effect of nicotinic acid is not caused by adrenergic blockade. We are of the same opinion as other authors who maintain that nicotinic acid could be used in the therapy of the "shock lung". It is said that nicotinic acid as a fibrinolytic substance might counteract the Disseminated Intravascular Coagulation and that it could counteract the danger of oedema in the pulmonary system by decreasing pressure and resistance for a short time.


Asunto(s)
Anestesia Epidural , Hemodinámica/efectos de los fármacos , Ácidos Nicotínicos/farmacología , Adulto , Aorta/cirugía , Presión Sanguínea/efectos de los fármacos , Capilares/fisiología , Gasto Cardíaco/efectos de los fármacos , Presión Venosa Central/efectos de los fármacos , Arteria Femoral/cirugía , Frecuencia Cardíaca/efectos de los fármacos , Humanos , Meperidina/farmacología , Persona de Mediana Edad , Arteria Pulmonar/fisiología , Volumen Sistólico/efectos de los fármacos , Resistencia Vascular/efectos de los fármacos
10.
Anasth Intensivther Notfallmed ; 15(2): 99-106, 1980 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-7396104

RESUMEN

The authors could verify the heart rate increasing effect of atropine. The different sympathetic and parasympathetic activity caused by the method of operation and the kind of anaesthesia had a modifying effect on the heart frequency increase. In contrast to a small heart rate increase in halothaneanaesthesia, the increase in epidural- and neuroleptanaesthesia was higher. In addition medical treatment with pancuronium modified the effect of atropine. The frequency increase in patients who had got pancuronium was significantly smaller - the basic rate being higher - than in patients who hadn't got pancuronium. Those patients reacted vice versa. The authors found out that by giving 1 mg of atropine a maximum effect could be expected and that there couldnt be spoken of an overdosage.


Asunto(s)
Anestesia Epidural , Atropina/farmacología , Halotano/farmacología , Hemodinámica/efectos de los fármacos , Neuroleptanalgesia , Anestesia por Inhalación , Aorta/cirugía , Presión Sanguínea/efectos de los fármacos , Gasto Cardíaco/efectos de los fármacos , Presión Venosa Central/efectos de los fármacos , Interacciones Farmacológicas , Arteria Femoral/cirugía , Frecuencia Cardíaca/efectos de los fármacos , Humanos , Persona de Mediana Edad , Pancuronio/farmacología , Vena Safena/cirugía , Volumen Sistólico/efectos de los fármacos , Resistencia Vascular/efectos de los fármacos
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