Aicardi syndrome: a case report.

BACKGROUND: Aicardi Syndrome is an X-linked autosomal recessive neurodegenerative encephalopathy. The diagnostic triad is composed by infantile spasms, agenesis of corpus callosum and chorioretinal lacunae. Additional common findings are: microencephaly, spasticity and severe mental delay. It affects only females because of early embryonic lethality in males. A significant number of females with Aicardi syndrome are of normal birth and develop normally until three months of age when infantile seizures begin. Psychomotor retardation is usually severe, neuromotor retardation is commonly present with lack of motor and language skills. Literature reports only few information about the dentofacial features of the syndrome. CASE REPORT: We present the case of a patient, by describing the dental and facial characteristics with focus on dental prevention in order to avoid dental pain and the risks connected to general anaesthesia, and ultimately for improving the quality of life.

Combined drug release from biodegradable bilayer coating for endovascular stents.

In this work, the characterization of a biodegradable bilayer system, used as controlled and combined drug delivery platform, is reported. For this aim, a bilayer system, composed of poly(lactic-co-glycolic acid) and poly(3-hydroxybutyric-co-3-hydroxyvaleric acid), was investigated under physicochemical and functional aspects by evaluating polymer/polymer and polymer/stent material interactions, the kinetic of in vitro degradation, and drug release properties, comparing results with the monolayer reference systems. Obtained results showed that the bilayer system allowed increasing the total amount of eluted Tacrolimus and Paclitaxel drugs with respect to the monolayer systems in the considered testing period and conditions. This evidence was associated to a faster degradation of the tested copolymers in the bilayered configuration, excluding a synergic effect of two drugs on delivery performance. In addition, a macromolecular relaxation process was identified to govern the PLX release from poly(lactic-co-glycolic acid), whereas a pure Fickian diffusion occurred in the delivery of Tacrolimus from poly(3-hydroxybutyric-co-3-hydroxyvaleric acid).

Zuska's disease.

Cutaneous signs and symptoms in subareolar abscesses of the breast or lactiferous fistula (Zuska's disease, ZD) are common and frequent, but generally dermatologist ignore this clinical entity. An epithelial squamous metaplasia causes plugging and obstruction of the ducts is a pathogenetic event. Subsequent inflammatory reaction and infection produce local and general symptoms. Nipple retraction, recurrent episodes of erysipela and presence of painful nodules under the areola in a non-lactating woman are suspect. The presence of a milky draining sinus in the areola is characteristic. The diagnostic challenge is to differentiate these benign condition from a breast cancer. Treatment with antibiotics in the acute and chronic phase is mandatory, surgical removal of abscess and duct is sometimes resolutive. The authors describe a case of ZD in a pathologically obese woman treated with a long term penicillin schedule with no favorable effects.

Cornelia de Lange syndrome: description of the orofacial features and case report.

Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is considered to be responsible of the disease. The main clinical features of the syndrome regard distinctive facial features, severe growth retardation, developmental and mental delay, hirsutism, structural limb abnormalities. The authors describe the main features of the syndrome focusing on oral and facial malformations and report a case of a three years old patient with CdLS.

Dental features in patients with Turner syndrome.

AIM: This was to investigate the dental characteristics (caries sensitivity and tooth crown size of permanent elements) in subjects affected by Turner Syndrome (TS). PATIENTS AND METHODS: A group of 25 patients affected by TS, aged from 4 to 18 years, was selected and the data were compared to those of an age matched control healthy group. The caries index values in TS patients are higher in the permanent (6.4 vs. 3.9), mixed (0.5 vs. 0.75) and primary dentition (0 vs. 1). The mesio-distal diameter in TS patients was significantly reduced for every tooth measured (in particular for the lower first permanent molar). RESULTS AND CONCLUSION: This investigation confirms that numeric aberration of the X chromosome most likely affects the quantitative and qualitative excretion of amelogenin so that teeth often present enamel defects (reduced crown size and enamel hypoplasia). High caries index values (DMFT) highlight the demand of early preventive measures mostly focused on special care patients.

Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings.

BACKGROUND: The authors describe dental and periodontal conditions of two Chinese sisters affected by familial hypomagnesemia with hypercalciuria and nefrocalcinosis (FHHNC). FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin. CASE REPORT: Oral examination of two Chinese patients showed marked enamel hypoplasia, acute gingivitis and periodontal bone loss and severe malocclusion. The literature does not report previous investigations about the dental conditions of FHHNC patients. The syndrome is not definitely described from the clinical point of view. CONCLUSION: Further researches are necessary to understand the linkage between bone loss and enamel structure anomalies in FHHNC and to discover the relationships between nefrocalcinosis, hypomagnesemia, hypercalciuria and amelogenesis imperfecta.

Caries and adolescents.

AIM: 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 Löe 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.

Case report: Alagille syndrome.

The clinical case of a boy aged 6 years suffering from Alagille syndrome is described. This is a rare genetic disease characterised, from the hepatic point of view, by anomalies of the intrahepatic biliary ducts (in terms of number, histology and immunohistochemistry) with cholestasis; from the systemic point of view it is characterised by anomalies of various systems (heart, musculoskeletal system, eyes, face, kidneys and nervous system). The patient was referred for dental consultation by the Pediatric Cardiology Section, Sant'Orsola-Malpighi Polyclinic, Bologna City Hospital. Medical history indicated liver transplantation at 3 years; immunosuppressive treatment; heart disease with low risk of bacterial endocarditis (interventricular defect and systolic murmur). Objective examination revealed a dental formula compatible with his age, of a decided green colour (above all the permanent dentition) with numerous caries lesions on the posterior deciduous teeth. In agreeing the treatment plan with the cardiologist (treatment of caries and sealing the fissures and cracks in the permanent first molars) it was decided that antibiotic prophylaxis was not required since such conservative treatment is not at risk for bacterial endocarditis. The patient returned 15 min after the end of the second session with marked swelling of the right upper hemi-lip. Having excluded traumatic origin, a hypothesis was formulated of hypersensitivity to products used during the dental session, in particular talcum-coated gloves and latex rubber dam. The patient was referred immediately to the Dermatology Service, Sant'Orsola-Malpighi Polyclinic, for the appropriate dermatological tests (prick test and epicutaneous test) which confirmed the suspected diagnosis: urticaria from contact with latex materials. The clinical case described confirms the need for the dentist of an interdisciplinary approach in patients suffering from systemic diseases and/or syndromes.

Pain and anxiety control in Down syndrome.

The most recent pain and anxiety control techniques employed in patients with Down syndrome are described in relation to how cooperative the patient is and what assessment is made of his or her general condition. The growing deinstitutionalization of these patients and the growing social opportunities for them are matched by an increasing demand for dental treatment. Down syndrome is thus one of the disabilities with which the dentist is most likely to come into contact in his own surgery. Pain control is one of the keys to building the relationship between physician and patient and obtaining patient compliance in the conviction that only regular controls can maintain the oral health of these patients. A local anaesthetic, combined when possible with psychological techniques, remains the approach of choice and only a level of compliance that is really wanting or the need to carry out numerous operations in a single session should lead the dentist to choose conscious sedation or a general anaesthetic. The choice of technique, however, should take into account any systemic disease present, such as congenital heart and neurological diseases, bearing in mind that conscious or deep sedation and general anaesthesia should only be adopted in a hospital environment and require the presence of an anaesthesiologist.