Search PubMed⌕ Search

Biomedical subjects

K Vrticka

Publications and source records attributed to K Vrticka.

13 recordsLinked to original sources
PubMed2001

Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.

UNLABELLED: In 1955, a pattern of velar hypoplasia causing hypernasal speech and associated facial dysmorphism was observed in 26 children of Czech origin. Further cases with submucous cleft and/or cardiac anomalies were described. In 1978 velocardiofacial syndrome (VCFS) was reported, a condition very similar to velofacial hypoplasia (Sedlackova syndrome) apart from overt clefts instead of velar hypoplasia. In 1990 it was suggested that both syndromes might be variants of the same clinical entity. To test this hypothesis we performed fluorescence in situ hybridisation using the DiGeorge/VCFS region specific probe D22S75 on 20 patients originally classified as Sedlackova syndrome as well as molecular investigations for a subset of these patients. A 22q11.2 deletion was found in 16/20 patients. Thus, our results confirm the aforementioned hypothesis and expand the long list of clinical diagnoses associated with del 22q11.2. CONCLUSION: Velofacial hypoplasia (Sedlackova syndrome) and velocardiofacial (Shprintzen) syndrome have a corresponding phenotype and are both associated with del 22q11.2.

Abnormalities, Multiple↗
PubMed1995

Voice disorders in children.

The pediatric otolaryngologist has an especially important role in the differential diagnosis and treatment of two voice disorders; these are the voice quality problems (dysphony) and the resonance problems (rhinophony). The first step in the examination is to preclude the organic causes. The functional dysphonia is mostly related to voice abuse/misuse, but may be present on a psychosomatic basis; environmental factors can also play a role in the etiology and the personality structure has been found to be very relevant. The perceptual evaluation of voice is of obvious importance. Endoscopy with a transnasal flexible scope makes it possible, in practically all cases, to identify the morphodynamic changes. Stroboscopy and phonetography can be carried out only in older children, sometimes a 'trial treatment' is of valuable help. The therapy can be divided into five groups (counselling, voice re-education, drug treatment, psychotherapy, surgery), but should be always individual. An open question: how to choose the preferable treatment of vocal nodules: surgery, conservative or wait-and-see? According to a detailed survey in Kurume University Hospital the following can be stated: if the patient is in trouble due to hoarseness, and immediate improvement of his voice is necessary, surgery should be indicated; if they need the improvement but do not need it urgently, voice therapy is recommended; without motivation vocal hygiene is proposed. No matter what treatment patients receive, their voices improve in the majority after puberty, but 15% of the patients do not show any improvement. In cases of hoarseness due to long-term postintubational glottic lesions logopedic treatment is the only therapeutic possibility. The delay of speech development of tracheotomized children can and should be avoided by applying proper cannula technique and by logopedic training. The physiological nasality which depends upon the undisturbed activity of the velopharyngeal closure, can become pathologic in four forms: closed, open, mixed and alternating nasality (rhinophonolalia). In the diagnosis of hyperrhinophony due to VPI X-ray procedures, supplemented with nasendoscopy, proved to be the most informative methods, the etiology (neuromyogen processes) may be revealed by electrophysiological methods; the voice and speech can be assessed and visualized by nasometry, but the detailed speech evaluation is indispensable. The basic possibilities of treatment are as follows: speech therapy, surgery, speech bulb, electrotherapy and medicines. The basis of operative treatment is flap surgery. The anatomical result of 1000 (velo) pharyngoplasties carried out in Madarász and Heim Pál Children's Hospital (Budapest) is good in 98%, the hyperrhinophony ceased or became minimal in 90% after surgery. The ideal age for operation is 4.5 years.

Adolescent↗
PubMed1986

[Velofacial hypoplasia and submucous cleft palate: histologic analogies. A comparative histologic and histomorphometric study of velum musculature].

Velofacial hypoplasia (VFH) is particularly characterised by severe open nasalising with palate-throat insufficiency due to an abridged palatal velum. The cause of this disorder is unknown. Submucosal cleft palates (SMG), which may cause similar signs, are considered to be caused genetically, or acquired during pregnancy as an impedimental malformation. We compared histologically and histomorphometrically the palatal velums of patients with VFH and SMG, with normal specimens. In VFH and SMG, the muscle fibres of the palatal velums feature pathological variations of their diameters; moreover, these specimens contain more fibrous than muscle tissue compared with the controls. These changes do not indicate clearly either a neuropathogenic or a myopathogenic or other pathogenesis. However, the similarities of the clinical, histological and histomorphometric findings do indicate a common formal pathogenesis. Anamnestic examinations of the pregnancies (particularly of the first trimenon) of mothers of patients with VFH may reveal further findings supporting our assumption.

Child↗
PubMed1985

[Histopathologic findings in the posterior pharyngeal wall 8 years after treatment of velar insufficiency with Teflon injection].

After a teflon injection into the submucosa of the posterior pharyngeal wall in a child, a corrective operative procedure was carried out eight years later because of severe open nasality due to velopharyngeal incompetence. A biopsy was taken from the eight year old teflon depot. The histological examination revealed a marked foreign body reaction with a persistent inflammation and fibrosis. The micromorphological comparison of the sizes of the teflon particles in the used teflon-glycerol paste with those detected in the examined tissue sample indicates the (cellular, lymphogenic) removal of the smaller teflon particles.

Adolescent↗
PubMed1976

[Velo-pharyngeal closure before and after adenotomy and tonsillectomy].

Prior to and after removal of the tonsils and adenoids at the ENT clinic in Lucerne, phoniatric and X-ray examinations were performed in 42 children with normal velo-pharyngeal closure. Prior to the operation the velo-pharyngeal closure took place against the adenoid tissue. The surface of contact and the inclinatation of the velum were dependent on the amount of hyperplastic adenoid tissue. The configuration and the mobility of the velum were more important for the post-operative velo-pharyngeal closure than the distance from the pharyngeal wall. 3 months following the operation the velum was reaching the posterior pharyngeal wall. A distinct Passavant ridge was only visible in cases having slight difficulties in the post-operative adaptation of the velo-pharyngeal closure.

Adaptation, Physiological↗
PubMed1976

[Spastic dysphonia].

Between 1968 and 1974 10 patients (4 men, 5 women, and 1 10-year-old girl) with spastic dysphonia were observed at the Phoniatric Department of the ENT clinic in Lucerne. According to the clinical documentation, the probable etiologic factors, the clinic appearance as well as the therapeutic measures and their results are discussed.

Adult↗