RESUMEN
Video technology has been in use in the psychiatric field for more than 20 years for diagnostic, scientific, co-therapeutic or educational purposes. However, little is known of its potential applications and impact as an instrument in psychotherapy or environmental therapy. For this reason a new cinematographic project applying widespread video technology in environmental therapy, too, has been launched. All patients at our psychiatric hospital are involved in film selection, can cooperate at different organizational levels, and have regular opportunities to see films. The technical, the organizational and, in particular, the legal preconditions are set out, followed by a report on experience gained in use of video films within the setting of a psychiatric hospital. Reference is also made to economic aspects, therapeutic effects and contraindications.
Asunto(s)
Biblioterapia/métodos , Hospitales Psiquiátricos/tendencias , Trastornos Mentales/terapia , Terapia Ambiental/métodos , Películas Cinematográficas , Biblioterapia/economía , Alemania , Hospitales Psiquiátricos/economía , Humanos , Terapia Ambiental/economía , Satisfacción del PacienteRESUMEN
In a girl presenting with features of Wolf-Hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.
Asunto(s)
Anomalías Múltiples/genética , Inversión Cromosómica , Cromosomas Humanos Par 4/genética , Monosomía/genética , Recombinación Genética/genética , Trisomía/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/fisiopatología , Trastorno Autístico/genética , Centrómero/genética , Niño , Preescolar , Bandeo Cromosómico , Deleción Cromosómica , Femenino , Duplicación de Gen , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Linaje , Diagnóstico Prenatal , SíndromeRESUMEN
We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.
Asunto(s)
Acrocefalosindactilia/genética , Cromosomas Humanos Par 7 , Craneosinostosis/genética , Acrocefalosindactilia/clasificación , Adulto , Niño , Mapeo Cromosómico , Craneosinostosis/clasificación , Craneosinostosis/diagnóstico , Diagnóstico Diferencial , Cara/anomalías , Femenino , Genes Dominantes , Ligamiento Genético , Marcadores Genéticos , Genotipo , Humanos , Lactante , Masculino , Persona de Mediana Edad , Linaje , Radiografía , Cráneo/anomalías , Cráneo/diagnóstico por imagen , Programas Informáticos , SíndromeRESUMEN
Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).
Asunto(s)
Enanismo/diagnóstico , Preescolar , Enanismo/genética , Enanismo/patología , Anomalías del Ojo/genética , Cara/anomalías , Humanos , Masculino , Pericarditis Constrictiva/genética , Fenotipo , SíndromeRESUMEN
We observed the course of diabetes in 23 genetically diabetic mice (C 57 BL/KSJ mdb) and in 25 controls (C 57 BL/KSJ). Diabetes was not treated. Histological changes of pancreas, aorta, kidneys, and inner ear vessels were noted. Auditory function was tested by means of the pinnal reflex of Preyer for a frequency range between 4000 and 20000 cps. The diabetic mice developed partly a mild diabetes associated with weight gain, and partly a severe diabetes with a loss of weight. Histologically, the diabetic mice showed (dependent on the duration and degree of severity of the diabetes) progressive mesangial sclerosis and thickening of basal laminas of the glomerula, as well as progressive slight to moderate thickening of the vascular walls of all inner ear vessels. The hearing ability of diabetic mice and of controls diminished with age to a comparable degree. The diabetic mice showed a slightly higher hearing loss for high frequencies, which did not correlate with the extent of thickening of inner ear vessel walls.
Asunto(s)
Diabetes Mellitus/patología , Trastornos de la Audición/patología , Animales , Aorta/patología , Audiometría de Tonos Puros , Membrana Basal/patología , Oído Interno/patología , Glomérulos Renales/patología , Ratones , Ratones Endogámicos C57BL , Ratones Mutantes , Estría Vascular/patologíaRESUMEN
The histological changes in the inner ear were compared with the hearing ability in insulin deficiency diabetes of rats. 38 LEW-Han-rats were treated with streptocotocin; 34 of these became diabetic, as proved by the glucose tolerance test. 22 rats served as controls. The diabetes was not treated. For a period of up to 440 days the weight, blood glucose and auditory function were controlled in the living animals. Auditory function was tested by means of pinnal reflex of Preyer for a frequency range between 1000 and 20000 cps. With regard to the mean values of frequency, neither a decrease nor a difference between normal controls and diabetic rats was found to any substantial degree. Histological examinations of sacrificed diabetic rats meanwhile showed the well-known changes in the kidneys with microaneurism, thickened basal lamina, mesangial proliferation, and hyaline bodies. The changes in the inner ear, especially in the region of the stria vascularis and lamina spiralis ossea to the ganglion cochleae, were rather discrete, so that no pronounced diminution of the auditory function as a result of restricted metabolism was to be expected. A loss of ganglion cells was seen in the spiral ganglion of the cochlea in correlation with ageing. There was no clear difference between diabetic rats and normal controls. Insulin deficiency diabetes causes severe changes in the vessels, as demonstrated in the kidney. In the inner ear, however, there were no comparable changes, the hearing ability of diabetic rats remaining practically normal.