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2.
Am J Med Genet A ; 116A(2): 192-9, 2003 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-12494443

RESUMEN

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 18/genética , Displasia Ectodérmica/patología , Anomalías Múltiples/patología , Huesos/anomalías , Encéfalo/anomalías , Niño , Cara/anomalías , Salud de la Familia , Femenino , Cabello/anomalías , Humanos , Hibridación Fluorescente in Situ , Masculino , Anomalías Cutáneas , Cráneo/anomalías , Síndrome , Anomalías Dentarias
3.
Acta Otorhinolaryngol Ital ; 16(2 Suppl 53): 13-8, 1996 Apr.
Artículo en Italiano | MEDLINE | ID: mdl-8928667

RESUMEN

In our Clinic, from 1987 up to 1993, 296 patients suffering from otosclerotic disease underwent stapedotomy, either using a classical or modified technique. The Authors reported the almost total disappearance of post-operative vertiginous symptomatology and a very good functional recovery; they believe that the placing of the prosthesis before disjointing the stapes, thereby allowing operation on a rigid structure, helps reduce labif1nthine traumatism. Moreover, stapedotomy with inversion of surgical times requires only a 24-hour hospitalization, with obvious advantages both for patient and clinic.


Asunto(s)
Otosclerosis/cirugía , Cirugía del Estribo , Adolescente , Adulto , Anciano , Historia del Siglo XX , Humanos , Tiempo de Internación , Persona de Mediana Edad , Estudios Retrospectivos , Cirugía del Estribo/historia , Resultado del Tratamiento
4.
Acta Otorhinolaryngol Ital ; 16(2 Suppl 53): 19-27, 1996 Apr.
Artículo en Italiano | MEDLINE | ID: mdl-8928668

RESUMEN

In recent years in the literature on stapes surgery several changes have been proposed concerning the adoption either of new technologies (Laser) or of surgical techniques preserving middle ear functional structures (stapedoplasty). The Authors carried out a personal case-report on 30 patients suffering from otospongiotic disease, in order to clarify the real advantages and possible applications of the latest developments in small fenestra stapedectomy. Twenty subjects underwent platinotomy with preservation of the stapedial tendon (stapedoplasty), while a simple stapedotomy was performed in the remaining 10 cases, with or without inversion of surgical times (a "rigid system" technique was adopted in 7 patients). CO2 Laser was used on 10 of these patients (33%) in order to carry out certain surgical steps; in particular it was used on 7 subjects who underwent stapedotomy with stapedoplasty (35%) and in 3 cases of traditional stapedotomy (100%). An audiometric examination was conducted on all subjects 1 and 6 months after the operation, in order to evaluate functional recovery; the post-operative stapedial reflex was also studied in patients who underwent stapedoplasty. This research points out the advantages that CO2 Laser gives in the execution of stapes surgery, whatever the type of technique adopted; in particular, the advantages of using this instrument are: -an easier and bloodless performance of the operation, particularly in the case of the preservation of the stapedial tendon; -a greater regularity and precision of the footplate hole than that obtained by drilling, especially in subjects whose stapes are thin, floating, fractured or even obliterated; -less mechanical traumatism on the labyrinth during either the fracturing of the crura or the footplate fenestration, resulting in the reduction of both perceptive hearing loss an dizziness; -a higher incidence of air-bone gap closure mostly in the case of stapedial tendon preservation. On the other hand, the use of inadequate lasers or the lack of reference to exact parameters (beam power and frequence, time of exposure and defocalization), could cause the heating of labyrinthine liquids and so damage the receptorial structures of the inner ear.


Asunto(s)
Terapia por Láser , Cirugía del Estribo , Humanos , Otosclerosis/fisiopatología , Estudios Retrospectivos , Estribo/fisiopatología , Resultado del Tratamiento
5.
Rev Laryngol Otol Rhinol (Bord) ; 113(2): 137-9, 1992.
Artículo en Francés | MEDLINE | ID: mdl-1344523

RESUMEN

The authors evaluated the results obtained from the tympanic membrane reconstruction in 300 patients affected by simple, purulent or cholesteatomatous chronic middle ear otitis. In this tympanic membrane reconstruction they used: jugular vein strip of a calf and temporal muscle fascia in 150 cases. On pathological basis (simple, purulent and cholestéatomatous otitis) they used the overlay or the underlay method. In 5 years that follows, the materials (vein and fascia), if properly used, would give similar results. For such reasons the authors proposed: temporal muscle fascia autotransplantation with underlay method in partial myringoplasty; heterotransplantation of modelled jugular vein strip with overlay method in subtotal or total myringoplasty.


Asunto(s)
Miringoplastia/métodos , Membrana Timpánica/cirugía , Timpanoplastia/métodos , Fascia/trasplante , Humanos , Venas Yugulares/trasplante , Trasplante Autólogo , Trasplante Heterólogo
6.
Minerva Anestesiol ; 56(4): 95-9, 1990 Apr.
Artículo en Italiano | MEDLINE | ID: mdl-2216002

RESUMEN

The study of brain stem auditory way in severe head trauma patients with auditory evoked potentials is very important for giving elements about functional and anatomic situation of analyzed neuronal substratum; ABR will be normal or altered in conformity with the level and/or the gravity of the damage. Authors have examined 20 post-traumatic comatose patients pointing out the existence of a strict relation between auditory brain stem responses and prognosis. Authors, in accordance with the ample literature in existence, agree to point out the auditory brain stem responses such as a very effective instrument for the prognostic valuation of post-traumatic comatose patients.


Asunto(s)
Lesiones Encefálicas/fisiopatología , Tronco Encefálico/fisiopatología , Coma/fisiopatología , Potenciales Evocados Auditivos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico
7.
Ital J Neurol Sci ; 10(4): 447-9, 1989 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-2793419

RESUMEN

We report a rare case of adenocarcinoma of the sphenoid sinus in which the very rarity of the site made for considerable uncertainty in the early diagnosis despite major neurological deficits at onset. Only the subsequent course of the tumor enabled us to identify the site in the sphenoid sinus, an atypical area surrounded by numerous neurovascular structures which, if involved, may give rise to a protean and nonspecific symptom-complex.


Asunto(s)
Adenocarcinoma/diagnóstico , Neoplasias de los Senos Paranasales/diagnóstico , Seno Esfenoidal/patología , Tomografía Computarizada por Rayos X , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/cirugía , Anciano , Humanos , Masculino , Neoplasias de los Senos Paranasales/diagnóstico por imagen , Neoplasias de los Senos Paranasales/cirugía , Seno Esfenoidal/diagnóstico por imagen , Seno Esfenoidal/cirugía
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