[A new hereditary mouth abnormality in a family].
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Rats were treated either discontinuously or continuously with haloperidol. Only discontinuous treatment caused a long-lasting abnormal rise in the number of mouth movements. After termination of medication the animals were kindled electrically in the nucleus amygdala. The results suggest cross-sensitivity between discontinuous neuroleptic treatment and amygdala kindling. Our results are consistent with the hypothesis of a kindling-like sensitization to the dyskinetic-inducing side-effects of neuroleptic drugs following intermittent antidopaminergic treatment.
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Deletion of chromosome 22q11 concerns nearly 1/5.000 births, and is the most frequent interstitial microdeletion. The deletion generates various phenotypes which were initially regarded as distinct syndromes. 1) Di George syndrome was described in 1962 by immunologists, and associates thymic and parathyroid hypoplasia, cardiac malformation, and dysmorphic face; the prognosis is severe, as Di George syndrome is a life-threatening condition. 2) The velocardiofacial syndrome was described in 1978 by stomatologists, and associates palate abnormalities, cardiac malformations, dysmorphic faces, and learning disabilities. 3) The Takao syndrome was described in the late seventies by cardiologists as a clinical condition associating cardiac abnormalities and dysmorphic faces. During the nineties, a common molecular etiology was identified, and a new name proposed: CATCH 22, an acronyme for Cardiac abnormalities, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia, deleted chromosome 22. Furthermore, new phenotypes have been recently recognized, most of them belonging to the psychiatric spectrum. Descriptive studies of large samples of children with 22q11 deletion, conducted, both in the United States and european countries, have shown the following pattern of associated symptoms:--abnormal face (100%), which expression varies with age, and can be discrete;--cardiac abnormalities (84%), including cardiac malformations of conotroncal types;--mouth abnormalities (49%), including cleft palate (14%), and velar dysfunction (20%);--urinary tract abnormalities (36%), including ureteric reflux, lung dysplasia;--transitory hypocalcemia (60%) mostly during infancy, and due to transitory hypoparathyroid dysfunction;--seizures (21%), which are usually a consequence of hypocalcemia;--immunodeficiency (1%), which worsens the prognosis. Deletion of chromosome 22q11 has been also associated with various psychiatric phenotypes, which can be classified into two groups, developmental abnormalities and psychiatric conditions. The great majority of patients with the deletion exhibit impairment of language and motor development, mild mental retardation, persistent coordination deficits, and poor academic performance. The deletion of chromosome 22q11 is also associated with high frequency of behavioral disorder with attention deficit during childhood, and with high frequency of psychotic disorder (bipolar disorder, and schizophrenia) during adolescence and young adulthood. The link between the 22q11 deletion and schizophrenia has been also supported by recent studies showing that the rate of 22q11 deletion in adults with schizophrenia (2%) is higher than it is in the general population. The rate may even be higher (6%) in subjects with childhood onset schizophrenia. The present work reviews the psychiatric literature associated with 22q11 deletion. We also report a case of 22q11 deletion in a 17-year-old girl that was initially diagnosed as paranoid schizophrenia. We will discuss the diagnostic, prognostic, and therapeutic consequences that such a genetic diagnosis implies. In the case reported here, transitory hypocalcemia induced: 1) dystonic symptoms that was believed to be catatonic symptoms or neuroleptic secondary effects, by clinicians; 2) a poor response to neuroleptic medication.
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The author classifies the Hungarian dental publications on genetical aspects into the following groups: 1. tooth and dental arch characteristics, disorders and illnesses, 2. oral cavity and surrounding area characteristics, disorders and illnesses, 3. mandible and surrounding bone characteristics, disorders and illnesses, 4. hereditary illnesses involving oral symptoms, 5. summarizing publications.
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The oral manifestations in 27 patients with Urbach--Wiethe disease (UWD) discovered in Northern Sweden are described. The oral regions most frequently affected are the lips, the back of the tongue, the frenulum of the tongue, the palate and the back wall of the pharynx. The general impression is that older patients usually have more marked manifestations than younger, indicating that the oral lesions may become more severe with increasing age. Histopathologically, the disorder is essentially a microangiopathy in which the walls of small blood vessels are thick and PAS-positive, indicating the presence of glycoproteins. In clinically affected regions there are usually PAS-positive extravascular deposits. In material used of lipid histochemical studies, sudanophil droplets were found in the vessel walls. By staining with osmium tetroxide the osmium is--contrary to previous assumptions--in some way bound to the droplets, but for unknown reasons is not reduced to a coloured product. The binding of osmium was demonstrated by the OTAN (osmium textroxide alpha-naphthylamine) method. The exact significance of this finding awaits further studies. The implications of dental anomalies occurring in UWD are discussed.
A dot-blot hybridisation assay using isolated high molecular weight DNA as whole chromosomal probes of the cat pigmented asaccharolytic Bacteroides/Porphyromonas species was used against both purified high molecular weight DNA and DNA released on membranes from whole cells for the identification of B. salivosus and for its differentiation from the other anaerobic species isolated from normal and diseased mouths of cats and horses. 32P-labelled probes were compared with digoxigenin (DIG)-labelled probes (Boehringer-Mannheim). The whole chromosomal probes were specific--differentiating B. salivosus from a variety of species (including members of the genera Bacteroides, Fusobacterium, Eubacterium, and Prevotella) found in normal and abnormal mouths of cats and horses. Likewise, asaccharolytic black pigmented Group 2 strains were distinguishable from all strains tested. However, cat strains of P. gingivalis which show 68-76% DNA-DNA homology with human strain P. gingivalis ATCC 33277T, were not distinguishable from each other using either 32P-labelled or DIG-labelled probes. The minimum amount of pure Bacteroides DNA which could be detected by the 32P-labelled probe was 100-300 pg, while the amount of pure DNA detected by the DIG system was 1-3 mg after room temperature colour development for 1 h and 100-300 pg after 6 h colour development.
A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of Focal Dermal Hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue. A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed.