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1.
Nucleic Acids Res ; 29(17): E87-7, 2001 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-11522843

RESUMEN

Hybrid specific amplification (HSA) is a novel simple method elaborated in order to isolate the common fraction of two DNA samples while avoiding the background due to repeated sequences. The method is based on the suppressive PCR principle, associated with a Cot1 pre-hybridization step. In recent work we demonstrated that hyperprolificity observed in Booroola ewes is associated with a mutation in the bone morphogenetic protein receptor IB gene (BMPR-IB). We applied HSA between ovarian cDNA and DNA from four BAC clones containing BMPR-IB in order to test for the presence of other genes expressed in ovary and to isolate additional BMPR-IB exon sequences. Of the 460 clones obtained, none contained repeated sequences. We successfully obtained 37 clones representing the major part of BMPR-IB coding sequence, together with 5'- and 3'-UTR sequences. Here we have successfully applied HSA to a particular tissue, but it should be possible to trap the common fraction of two DNA samples, whatever their nature.


Asunto(s)
ADN/aislamiento & purificación , Reacción en Cadena de la Polimerasa/métodos , Animales , Receptores de Proteínas Morfogenéticas Óseas de Tipo 1 , Cromosomas Artificiales Bacterianos , Clonación Molecular , ADN/genética , ADN Complementario/genética , ADN Complementario/aislamiento & purificación , Femenino , Datos de Secuencia Molecular , Hibridación de Ácido Nucleico/métodos , Proteínas Serina-Treonina Quinasas/química , Proteínas Serina-Treonina Quinasas/genética , Receptores de Factores de Crecimiento/química , Receptores de Factores de Crecimiento/genética , Análisis de Secuencia de ADN , Ovinos
2.
Pediatr Med Chir ; 18(6): 565-71, 1996.
Artículo en Italiano | MEDLINE | ID: mdl-9173403

RESUMEN

The aim of our study was demonstrate the correlation between immunoallergic system, autonomous nervous system (SNA) and central nervous system (SNC). Eight children allergic to food and with asthma, damage of handwriting, deambulation and behaviour were deprived of food allergens. The RAW (indicator of SNA activation) diminished and the respiratory flow increased. The neurologic symptomatology improved. The reintroduction of food allergens induced reappearance of asthmatic and neurologic symptomatology.


Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Sistema Nervioso Central/fisiopatología , Hipersensibilidad a los Alimentos/fisiopatología , Adolescente , Pruebas de Provocación Bronquial , Niño , Preescolar , Femenino , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/psicología , Humanos , Sistema Inmunológico/fisiopatología , Lactante , Masculino , Examen Neurológico , Pruebas Cutáneas
3.
Horm Res ; 43(5): 200-5, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-7782050

RESUMEN

The aim of this study was to evaluate through the auditory brainstem responses (ABRs) the electrical events generated along the auditory pathway in 56 adult patients affected with hyper- and hypothyroidism. Twenty-four normal-hearing hyperthyroid patients affected with Graves' disease and 32 normal-hearing hypothyroid patients (9 with subclinical and 23 with overt hypothyroidism) were subjected to standard (clicks at 21 pps) and sensitized ABR with masking wide-band (masking noise). In addition, thyroid scintiscan and ultrasonography, free T3 and T4, total T3 and T4, TSH, antimicrosomal and antithyroglobulin antibodies, audiogram and impedance tests were performed in all the patients. This study was repeated after 6-12 months of treatment in conditions of euthyroidism. The results showed changes of ABRs both in the standard procedure as well as in the sensitized test in 6 hyperthyroid (25%) and 8 hypothyroid patients (25%). All the patients with abnormal ABRs had overt hypothyroidism (8/23; 34.7%). The ABRs became normal in 5 out of 6 Graves' patients after 6-12 months of methimazole treatment. ABRs remained abnormal in all the hypothyroid patients despite their having been on L-thyroxine treatment for 6-12 months and were euthyroid for at least 5 months before the study was repeated. These findings suggest that ABR abnormalities are indicative only of a nonspecific injury in the bulbo-ponto-mesencephalic centers. Alterations of ABRs in thyroid diseases are not specific in relation to hyper- or hypothyroidism. Lastly, there is a relationship between ABR abnormalities and the degree of hypothyroidism, even if ABR alterations are not always reversible after long-term therapy.


Asunto(s)
Potenciales Evocados Auditivos del Tronco Encefálico , Enfermedades de la Tiroides/tratamiento farmacológico , Enfermedades de la Tiroides/fisiopatología , Adulto , Femenino , Enfermedad de Graves/tratamiento farmacológico , Enfermedad de Graves/fisiopatología , Humanos , Hipertiroidismo/tratamiento farmacológico , Hipertiroidismo/fisiopatología , Hipotiroidismo/tratamiento farmacológico , Hipotiroidismo/fisiopatología , Masculino , Metimazol/uso terapéutico , Persona de Mediana Edad , Tiroxina/uso terapéutico
4.
Pediatr Med Chir ; 13(4): 345-8, 1991.
Artículo en Italiano | MEDLINE | ID: mdl-1754465

RESUMEN

The Authors during an extensive applications of nasal brushing in infancy according to Rutland and Cole, remarked--first time in literature--the contemporary presence in a child of the nemaline myopathy syndrome and immotile cilia syndrome. Supposing the possibility that in other myopathy may be present the same ciliary immotile syndrome, they studied with nasal brushing three cases of Werdnig-Hoffman syndromes: but they presented normal ciliary conformation. The Authors suppose that in case in future it should be found in other cases of nemaline myopathy the contemporary presence of dinein arms lack, it should be demonstrated that this syndrome takes derivation from a genetic alteration both of the muscular apparatus and the ciliary mobility system of bronchial epithelius.


Asunto(s)
Bronquios/patología , Trastornos de la Motilidad Ciliar , Enfermedades Musculares , Atrofias Musculares Espinales de la Infancia , Niño , Cilios/ultraestructura , Trastornos de la Motilidad Ciliar/patología , Humanos , Enfermedades Musculares/patología , Atrofias Musculares Espinales de la Infancia/patología
5.
Childs Nerv Syst ; 5(3): 160-2, 1989 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-2758429

RESUMEN

In order to investigate the role of EEG in minor head traumata in the pediatric age, EEG and CT scan findings were compared in a series of 103 consecutive cases of children hospitalized within 24 h after head trauma. The EEGs were classified as normal in 50 patients, borderline in 10 patients, and abnormal in 43 patients. CT scan showed contusion in 6 patients and extracerebral hematoma in 4. All cases of abnormal CT scans were reported for patients with frankly abnormal EEG findings. In contrast, no pathological findings were found in CT scans for patients with normal EEG. The data suggest that EEG findings can play a major role in the diagnostic workup of patients with minor head traumata. Specifically, in the case of asymptomatic patients with normal EEG findings, it is likely that the CT scan will also be normal.


Asunto(s)
Traumatismos Craneocerebrales/fisiopatología , Electroencefalografía , Tomografía Computarizada por Rayos X , Adolescente , Niño , Preescolar , Traumatismos Craneocerebrales/diagnóstico por imagen , Humanos , Lactante
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