A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al. 2003) and shown to be linked to chromosome 18. We identified a large, intragenic deletion in the desmoglein 4 gene (DSG4) as the underlying mutation in two unrelated families of Pakistani origin (Kljuic et al. 2003a). LAH is an autosomal recessive form of hypotrichosis affecting the scalp, trunk, and extremities, and largely sparing the facial, pubic, and axillary hair. Typical hairs are fragile and break easily, leaving short sparse scalp hairs with a characteristic appearance. Using comparative genomics, we also demonstrated that human LAH is allelic with the lanceolate hair (lah) mouse (Kljuic et al. 2003a), as well as the lanceolate hair (lah) rat phenotype (Jahoda et al. 2004). In order to expand the series of allelic mutations in the desmoglein 4 gene underlying LAH in humans, we begin molecular analysis of DSG4 in families from around the world. Here, we describe the study of a family of Pakistani origin with two siblings affected with LAH (Figure 1).This study was supported in part by grants USPHS NIH R01-AR44924 and the March of Dimes Birth Defects Foundation (A. M. C.).Peer reviewe

Biocompatibility of Dental Adhesives

The accomplishment of developing a truly adhesive bond between a restorative material and the natural tooth structures is the goal of adhesive dentistry. Dentine adhesive systems come into close contact with dental and oral tissue, especially the pulp and gingival cells. Due to this close and long-term contact, adhesives should exhibit a high degree of biocompatibility. Biocompatibility is one of the most important properties of dental materials, and adhesives are no exception. It has been long demonstrated that different components of adhesives can be released. Numerous in vitro investigations have shown that released monomers and other components can cause damage to cultured cells. In addition, many in vivo studies have shown that uncured components which reach the pulpal space cause inflammatory response and tissue disorganization. Only a combination of various in vitro and in vivo tests can provide an overview of the interaction of biomaterials with the host. Therefore, it is necessary on a regular basis to carry out and re-verify the biological compatibility of the increasing number of new dental materials. Adhesives should be biofunctional, protective, and preventive, with health-promoting effects that contribute to a better prognosis for restorative treatments and its biocompatibility

Usefulness of Unstimulated and Stimulated Whole Saliva, Accuracy of Minor Labial Salivary Gland Biopsy in the Diagnosis of Primary Sjögren's Disease: A Croatian Single-Center, Cross-Sectional Study

The aim of this cross-sectional study was to determine the accuracy of minor labial salivary gland (MLSG) biopsy in the diagnosis of primary Sjögren' s disease (pSD); to study the correlation between the focus score (FS) and anti-SSA/Ro, anti-SSB/La, anti-SSA and -SSB antibodies, unstimulated whole saliva (UWS) and stimulated whole saliva (SWS); to determine the role of UWS and SWS in the clinical evaluation of pSD patients and patients with sicca symptoms. Methods. A total of 37 subjects were enrolled in the study and divided into two groups: the test group consisted of 15 patients diagnosed with pSD; the control group consisted of 22 patients who had sicca symptoms but did not meet the 2016 American College of Rheumatology (ACR) and European League Against Rheumatism (EULAR) diagnostic criteria. Clinical and laboratory tests, including saliva collection, MLSG biopsy, autoantibody titers, were performed in all patients. Results. The median of the FS was 1.00 [IQR=1.00-1.50] in the test group, whereas in the control group, it was 0.00 [IQR=0.00-0.00] (p< 0.001). The sensitivity, specificity, and accuracy of MLSG biopsy were 86.7%, 100.0%, and 94.6%, respectively. The results showed a correlation between the FS and antinuclear antibodies (ANA) (p=0.002). In addition, Pearson’s correlation showed a weak negative correlation between UWS (r=-0.058, p=0.73) and SWS (r=-0.022, p=0.90) and the FS. In the test group, 73.3% of patients had abnormal UWS values, while 86.7% had abnormal SWS values; among them, values of 0.00 ml/min for UWS and SWS were found in 60.0% and 26.7% of patients, respectively. Conclusions. Although MLSG biopsy has great diagnostic value and accuracy in diagnosing pSD, it is not always definitive. Our study found a statistically significant association between the FS and ANA, and the greater utility of SWS in diagnosing pSS

Silvije Bombardelli: Moonlight, arrangement and analysis for the quartet of saxophones

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Cytotoxic and genotoxic effects of contemporary esthetic restorative materials on pulpal cells and mucosal cells of oral cavity

Kompozitni dentalni materijali nakon svoje primjene dolaze u izravan dodir s oralnim tkivima. Zbog ovog bliskog i dugotrajnog kontakta, kompozitne materijale bi trebao karakterizirati visok stupanj biokompatibilnosti. Svrha ovog doktorskog rada bila je utvrditi koliko su kompoziti biokompatibilni i sigurni za kliničko korištenje kroz procjenu njihovog citotoksičnog i/ili genotoksičnog djelovanja. Citotoksično i genotoksično djelovanje istraživalo se na stanicama humane kulture gingive i pulpe, ex vivo, ovisno o koncentraciji korištenog materijala primjenom diferencijalnog bojanja akridin-narančastom bojom i etidijevim bromidom te primjenom komet testa. Isti materijali ispitivani su i u in vivo uvjetima. Pacijentima su izrađene kompozitne restauracije klase V te se pratio genotoksični učinak materijala na epitelnim stanicama gingive uz rub postavljenog ispuna. Uzorci stanica za ispitivanje uzimani su 0, 7, 30 i 180 dana nakon postavljanja restauracije. Oštećenje DNK analizirano je dvjema metodama, mikronukleus i komet testom. Kompozitni materijali u testiranim koncentracijama pokazali su genotoksični učinak u uvjetima ex vivo za oba ispitivana parametra komet testa, dužina i intenzitet repa. Kompozitni materijal Kalore pokazao je veću genotoksičnost u odnosu na Vertise flow. Rezultati in vivo dijela istraživanja pokazali su značajno više parametre komet testa unutar razdoblja od 30 i 180 dana. Mikronukleus test za isto vrijeme ekspozicije pokazao je znatno veći broj stanica s mikronukleusom, kariolizom i nuklearnim pupovima. Među testiranim materijalima nije uočena razlika u djelovanju. Na temelju rezultata, možemo zaključiti da upotreba kompozita uzrokuje DNK oštećenje u stanicama pulpe i gingive, međutim uzimajući u obzir visoku učinkovitost mehanizama popravka DNK, rezultate ne bi trebalo smatrati apsolutnim pokazateljima genotoksičnosti.Objectives: The most important requirement for the materials to be used in medical applications is its biocompatibility. Dental composite materials come into close contact with oral tissues, especially with gingival cells. Due to this close and long-term contact, the materials should exhibit a high degree of biocompatibility. The aim of this doctoral thesis was to certify that the modern composite materials are biocompatible and safe for clinical use and also, was to evaluate their cytotoxic and/or genotoxic effect on human fibroblasts ex vivo and gingival cells in vivo. Materials and Methods: Ex vivo cytotoxicity and genotoxicity of two contemporary commercial composite materials (Kalore, Vertise flow) on human gingival and pulpal fibroblasts depending on the concentration of the used material (20 mg/ml, 40 mg/ml), were tested using the ethidium bromide/acridin orange viability staining and an alkaline single-cell gel electrophoresis technique (comet assay). Genotoxicity was also assessed in gingival epithelial cells in vivo. Class V composite restorations were placed in 30 adult patients using two different composite resins. Cell samples were collected by gentle brushing gingival area along the composite restoration prior to, 7 days, 30 days, and 180 days following the restoration of the tooth. DNA damage was analysed for each cell sample by comet and micronucleus assay. Results: Ex vivo tested dental composites revealed statistically significant increase in the tail length and tail intensity in treated human gingival and pulpal fibroblasts, independent of the applied concentration. Cultures treated with nano-hybrid composite material Kalore (20 mg/ml) have been showed more genotoxic than those treated with self-adhesive flowable composite Vertise flow. In vivo results showed significantly higher comet assay parameters (tail length and % DNA in the tail) within 30, and 180 days of treatment. While the micronucleus tests for the same exposure time showed a higher number of cells with micronuclei, karyolysis and nuclearbuds. Results did not reveal the difference between the two composite materials for the same exposure time. Conclusion: We can conclude based on the results that the use of composite resins causes cellular damage. However, taking into consideration the high efficiency of DNA repair mechanisms, the results should not be considered as an absolute indicator of genotoxicity potential. As dental composite resins remain in close contact with oral tissue over a long period of time, further research on their possible genotoxicity are desirable

Control and protection of the Adriatic Sea in the Republic od Croatia

U ovom završnom radu opisani su subjekti nadzora i zaštite na Jadranskom moru, morski i podmorski prostori Republike Hrvatske - unutarnje vode, teritorijalno more, zaštićeni ekološko-ribolovni pojas te epikontinentalni pojas. Obrađuje se razgraničenje morskih i podmorskih prostora između Republike Hrvatske i susjednih država na Jadranskom moru, nacionalni interesi Republike Hrvatske na Jadranskom moru, Obalna straža i njeno djelovanje na Jadranskom moru, sigurnost plovidbe u Jadranskom moru te radnje koje mogu ugroziti nacionalne interese i sigurnost Republike Hrvatske na Jadranskom moru. Posebna pozornost posvećena je Obalnoj straži Republike Hrvatske koja je glavni nositelj aktivnosti nadzora i zaštite prava i interesa Republike Hrvatske na Jadranskom moru što je jamstvo kvalitetnog i cjelovitog nadzora i zaštite Jadranskog mora od svih oblika ugroze.In this finishing work are described the subjects of supervision and protection in the Adriatic Sea, sea and submarine areas of the Republic of Croatia, internal waters, territorial sea, protected ecological fishing belt and the epicontinental belt of the Republic of Croatia. The demarcation of the sea and submarine space between the Republic of Croatia and neighboring states on the Adriatic Sea is processed, the national interests of the Republic of Croatia in the Adriatic Sea, Coast Guard and its activities on the Adriatic Sea, the safety of navigation in the Adriatic Sea and actions that could jeopardize the national interests and the security of the Republic of Croatia in the Adriatic Sea. Particular attention is paid to the Coast Guard of the Republic of Croatia, which is the main bearer of the activities of monitoring and protection of the rights and interests of the Republic of Croatia in the Adriatic Sea, which is a great guarantee of quality and full control and protection of the Adriatic Sea and all forms of endangerment