Zvonimir Kaić

Characteristics of the craniofacial complex in Turner syndrome

OBJECTIVE To identify characteristics of the craniofacial complex in Turner syndrome (TS) patients from Croatian population, to investigate the interrelationship among craniofacial variables and to assess their correlation with age. DESIGN Cephalometric analysis was carried out on lateral cephalograms of 36 TS patients, aged 10-33 years. Cephalograms of 72 age-matched healthy females with class I occlusion served as control. RESULTS Logistic regression analysis sorted out two variables as predictors of TS: shorter posterior cranial base length (sella-basion) and reduced mandibular prognathism angle (sella-nasion-supramentale). Sixty-four percent of TS patients and 92% of the controls were classified correctly. After exclusion of the variable sella-nasion-supramentale, three variables were significant predictors of TS: shorter sella-basion, larger cranial base angle (nasion-sella-basion) and shorter subspinale-basion distance. Retrognathic position of the jaws in TS subjects was not correlated with the shape of the cranial base. Correlations with age revealed lack of maxillary longitudinal growth with persistent retrognathism and posterior rotation along with reduced mandibular growth. CONCLUSION Shorter posterior length and increased cranial base angle along with bimaxillary retrognathism were characteristics of TS patients. Results indicated that deficiency of the X chromosome genes had a direct influence on all three anatomic parts - cranial base, maxilla and mandible - causing irregular growth.

Xerostomia in patients with triple A syndrome – a newly recognised finding

Abstract Triple A syndrome is characterised by achalasia, alacrima, adrenal insufficiency and progressive neurological abnormalities including impaired autonomic nervous function. We present five patients with triple A syndrome in whom we describe xerostomia for the first time, a symptom which was presumed to be practically exclusive to Sjøgren syndrome and familial dysautonomia. Conclusion We recommend the investigation of salivation in all patients with triple A syndrome and treatment of xerostomia in order to ease swallowing. Further, our results corroborate earlier doubts that some patients with Sjøgren syndrome, especially those with the so-called “achalasia sicca” syndrome and adrenocortical insufficiency, actually had triple A syndrome. Therefore, adrenocortical function should be assessed in all patients with Sjøgren syndrome, particularly in those with difficulties in swallowing, because even latent adrenocortical insufficiency could be life-threatening for these patients in stressful situations.

Shape of the craniofacial complex in patients with Klinefelter syndrome.

The shape and size of the craniofacial complex in 35 adults with Klinefelter syndrome (47,XXY) were analyzed cephalometrically and compared with 60 control males. Twenty-four angular and 18 linear measurements were obtained for each subject. The results showed that the 47,XXY males were different from the controls in several areas of the craniofacial skeleton. Most of the differences were located in the cranial base and the cranial base angle (p < 0.02). The length of the maxillary base was greater (p < 0.05) and more prognathic (p < 0.01) in the study group. The mandible was also longer and more prognathic (p < 0.01).

(Na+ −K+) dependent ATPase in mouse submaxillary gland

SummaryThe influences of castration and of testosterone administration on (NaK)-ATPase in mouse submaxillary gland has been studied. Electron microscopical and histochemical data showing a profound change in the structure of the granular tubules after castration are also presented. Whereas testosterone administration is followed by a proliferation of the rough and smooth endoplasmic reticulum in the cells of the granular tubules, castration results in an opposite change. After castration, alkaline phosphatase, which is primarily localized in the basal membranes of the granular tubules, is drastically reduced.The tissue was fractionated, by the procedure of Katz and Epstein [15], and microsomal membranes were isolated by a modification of the procedure described by Schwartzet al. [29]. Plasma membranes were isolated by the method of Henninget al. [9]. As regards MgNaK-ATPase activity in plasma membranes, castration produced a slight decrease inVmax values. In the same membrane preparation, a completely opposite results was obtained for NaK-ATPase. In microsomal membranes a tremendous increase inVmax with a change inKm occured when potassium chloride was varied. When sodium chloride was constant and KCl concentration varied, the same high increase inVmax was recorded, but inKm the decrease was not so strongly pronounced. The conclusion was reached that the high specific activity of NaK-ATPase in castrated mouse submaxillary gland may be a consequence of a different amount of membrane protein per unit of tissue weight.

Occlusal plane orientation in Klinefelter syndrome (47, XXY males)

Occlusal plane position was analysed cephalometrically in 35 Klinefelter adults (47,XXY) and compared with 60 eugnath control males (46,XY). The significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) were obtained in 47,XXY males (P < 0.01), while the angles between the maxillary base and the occlusal plane (NL-OLs) and between the Campers line and the occlusal plane (Camp.-OLs) were not significantly different (P > 0.05) from the control group. Significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) in Klinefelter males are attributed to the hereditary influence of an extra X chromosome on the smaller growth of the cranial base and the greater growth of the lower border of the mandible. Although the maxilla was also shifted forward in XXY males in relation to the cranial base it was not enough to compensate for the hereditary influence, due to the greater growth of the lower border of the mandible and the smaller cranial base in 47, XXY males, on the inclination of the occlusal plane to the Frankfort horizontal plane and the cranial base. The forward shift of the maxilla was sufficient to compensate for the inclination of the occlusal plane in 47, XXY males to the maxillary base and the Campers line (P > 0.05).

Differences in the Eruption Angle of Palatally Displaced Canines in Klinefelter Syndrome: a Retrospective Study on Panoramic Radiographs

Objective To investigate the eruption angle of maxillary canine in patients with Klinefelter syndrome (KS) in which high prevalence of palatally displaced canine anomaly (PDC) has been found by clinical assessment. Subjects and Methods The sample consisted of 37 KS males aged 20-34 years (mean 27 years) and the control group which consisted of 78 healthy males aged 20-27 years (mean 23 years). A pioneer method was used to measure the eruption angle. It was based on determining the topographic construction of mandibular gonion line called GO-GO method on panoramic radiograph. Results The mean of eruption angle was increased for 10.58° in the right side and 9.69 ° in left side in patients with KS compared to those in the control group. The difference of mesioangular inclination of palatally displaced canines in Klinefelter patients was statistically significant (p< 0.01). When eruption angle in the control group was compared to Klinefelter patients, the statistical difference was confirmed for respective sides (P <0.01 for both). Conclusions The difference between eruption angle values in KS patients as well as in those belonging to the control group seemed to identify a developmental disturbance, thus confirming the fact that an extra X chromosome has an influence. The GO-GO method might be used for males when it is difficult to define occlusal planes, or for comparison. If this method is used, the eruption angular values should not exceed 56.74°.