Correlation between FIX genotype and pharmacokinetics of Nonacog alpha according to a multicentre Italian study

Pharmacokinetic (PK) studies on recombinant FIX concentrate, Nonacog alpha, were conducted with different sampling time designs which gave rise to not complete and homogenous outcomes. In addition, patient's FIX genotype/PK relationship has never been investigated

Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.

Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism. This case report concerns an 11-year-old patient with MMA-HC, which developed during the neonatal period. The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral and masticatory muscles) but no dolichocephalic skull nor long face. The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural alteration (the head is rotated and bent towards the left shoulder, which is lower than the right one). Such alteration can be attributed to visual impairment and is responsible for breaking muscular and skeletal balance in the frontal plane, thus causing the horizontal planes of both maxillary bones to converge towards the right--as highlighted by the cephalometric analysis of the Teleradio-graph of the skull in Posteroanterior projection according to Ricketts. As for the patient's teeth, eruption times are normal, but there are anomalies of shape (chisel-like central incisors). As far as dental caries is concerned, the patient's DMFT is 4 (D=4, M=0, F=0). This clinical case highlights the need for dental prevention programs suggested by the pediatrician once the pathology is diagnosed

Craniofacial changes and treatment of the stomatognathic system in subjects with Cleidocranial dysplasia

AIM: Cleidocranial dysplasia (CCD) is a rare disorder that is inherited as an autosomal genetic trait. It is characterised by defective ossification, delayed bone and tooth development, stomatognathic and craniofacial abnormalities and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. CCD is a dental disease that needs complex rehabilitation and the assistance of several specialists. In most cases, this disease precipitates towards the end of childhood with the progressive morbidity of the deciduous dentition, thus leading to edentulism at a young age and giving patients an older appearance. Several therapeutic approaches have been proposed within literature. The aim of this paper is to revise the literature on the proposed therapeutic approaches for the functional and aesthetical rehabilitation of the typical defects caused by CCD in the cephalic region, and to identify the most effective therapy currently available. CONCLUSIONS: The most effective therapeutic approach for the early treatment of the orthodontic and orthopaedic diseases in CCD patients would start with an orthopaedic treatment of the upper jaw followed by orthodontic and surgical treatments. When growth is completed a reintervention for maxillofacial surgery and the orthodontic treatment may be required. Finally, if some teeth are missing. function and aesthetics can be achieved replacing them with prosthesis

Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities

Cleidocranial dysplasia (CCD) is a rare disorder which is inherited as an autosomal genetic trait. It is characterized by defective ossification, delayed bone and tooth development, stomatognathic and craniofacial abnormalities, and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. The purpose of this review is to collect and analyze data in the literature on orofacial typical manifestations of the syndrome and to present knowledge of the eziopatogenics mechanisms of the CCD. Clinical, genetic, aetiopathogenetic studies on this syndrome were compliled through a systematic approach using Medline. This review reports the cranio-facial features and dental characteristics of the CCD on the basis of all data in the literature. This review pays particular attention on the eziopatogenics mechanisms of CCD and summarises the results of the most recent studies. Access to detailed review of the etiopathogenic mechanisms of CCD is a fundamental support for clinicians as it can allow to make an informed assessment regarding the most effective choice of therapy. The review shows how an interdisciplinary approach is necessary for an appropriate treatment since CCD patients suffer from a skeletal third class, transverse deficiency of the maxilla, supernumerary permanent teeth and deficient eruption of impacted permanent teeth

il paziente con deficit di ormone della crescita

Il capitolo rivolge l'attenzione alle patologie del distretto oro-cefalico del paziente pediatrico affetto da deficit di GH, offrendo indicazioni di diagnosi e terapia sulla base dell'esperienza clinica e delle evidenze presenti in letteratura

Caries and adolescents.

The rapid improvement in oral health conditions in childhood and adolescence and the ceaseless bombardment of information from the mass media have, during little more than 30 years, brought about a decrease in the prevalence of caries of more than 70% in most European Union countries. The study aimed to take an accurate picture of oral health conditions and dental prevention habits among adolescents. METHODS: The research was conducted on a group of 340 adolescents (12-16 years) in the province of Bologna (Imola) and used the SPSS to compare clinical and epidemiological parameters with medical-history data traditionally understood to be determinant for caries. RESULTS: From an analysis of the data it emerged that the mean value of the decay, missing or filled tooth (DMFT) index in the group was 1.8765 +/- 2.1987 and that the plaque index (according to L\uf6e and Silness) was 1.2519 +/- 0.4213. CONCLUSIONS: Crossing the data obtained, a highly significant correlation emerged (P=0.004) between plaque and caries indexes, and confirmed the primary role of bacterial plaque in causing caries. Unlike what we expected and unlike data reported in the international literature, the caries index was not found to be correlated in a statistically significant way with frequency of brushing, ''preferential consumption of sweet snacks'' (P=0.231) nor ''eating sweets and chewing gum'' (P=0.159) or with taking fluoride tablets (P=0.406). The key to success during adolescence is rooted in childhood; it is the pediatricians' and parents' job to guide and control the acquisition of correct dietary and oral hygiene habits

Capitolo 6. Sindrome di Turner

La salute orale rappresenta un elemento di fondamentale importanza nello stato di salute generale e contribuisce a garantire una buona qualit\ue0 di vita della persona. In particolare nei bambini affetti da sindromi cromosomiche e genetiche, l\u2019acquisizione di stili di salute orale adeguati fin dalle primissime et\ue0 della loro vita rappresenta una chiave di successo nel prevenire l\u2019insorgenza delle patologie orali pi\uf9 diffuse. \uc8 bene ricordare che spesso nei pazienti con patologie responsabili di disabilit\ue0 in et\ue0 evolutiva, a causa della ridotta collaborazione, le terapie odontoiatriche sono di pi\uf9 difficile esecuzione e la necessit\ue0 di eseguire le terapie in narcosi con ospedalizzazione pu\uf2 comportare stress psicologici per le famiglie e costi economici elevati per la societ\ue0. Inoltre, nel bambino con patologia congenita rara, l\u2019insorgenza di patologie odontoiatriche pu\uf2 comportare rischi per la salute generale. Particolari manifestazioni cliniche odontoiatriche sono caratteristicamente associate a singole sindromi, \ue8 quindi importante conoscerle per saperle riconoscere e attuare programmi di prevenzione e terapia adeguati. \uc8 quindi fondamentale che questi bambini siano presi in carico sin dalla primissima infanzia presso strutture odontoiatriche a loro dedicate e che l\u2019odontoiatra infantile e l\u2019ortodontista possiedano tutte le conoscenze di base relative al vasto e complesso capitolo delle sindromi genetiche o cromosomiche. Il testo Sindromi genetiche e cromosomiche e patologie del cavo orale costituisce un valido strumento di aggiornamento e un concreto aiuto per tutti gli operatori sanitari che nella loro pratica clinica quotidiana hanno l\u2019obiettivo di promuovere la salute di questi bambini