In vivo evaluation of labial microcirculation in diabetics: a comparison with healthy subjects.

AIM: Diabetes mellitus, a systemic chronic disease considered an epidemic by the World Health Organization (WHO) due to the rate of increase in the prevalence of diabetes, is a cause of microvascular and macrovascular complications leading to a significant burden for the individual and society. The aim of this study was to evaluate in vivo the effects of type II diabetes mellitus on the microcirculation of oral mucosa. METHODS: Forty-six subjects, 23 patients with type II diabetes mellitus (10 men, 13 women) and 23 healthy patients (9 men, 14 women) were examined in our laboratory. Oral microcirculation was evaluated on labial mucosa using oral video-capillaroscopy: a diagnostic method that permits the in vivo analysis of oral microcirculation. RESULTS: Capillary density, total loop length and total diameter resulted significantly altered in diabetics. The density of loops, observed on labial mucosa, is on average lower in diabetics than in healthy patients. The length and total diameter of loops are increased in diabetics. CONCLUSION: This study shows the capillary alterations that occur in the oral mucosa of diabetics. The loop density decrease is probably a symptom of peripheral microangiopathy. Ultimately, this study demonstrates that there is peripheral damage to microcirculation at the level of the labial mucosa in diabetic subjects and that these alterations are instrumentally "objectivable" and "quantifiable" through the videocapillaroscope technique.

"In vivo" evaluation of the vascular pattern in oral peri-implant tissues.

INTRODUCTION: The vascularisation of the peri-implant tissue represents the key factor in obtaining a successful result in implantology, since an adequate vascular supply allows wound healing and the presence of numerous growth factors that promote osteogenesis. The aim of this study was to analyse "in vivo" the vascular pattern of the peri-implant mucosa in subjects that received implant treatment. MATERIALS AND METHODS: In the study 22 subjects were examined, 11 of whom (test group) received dental implants (Straumann Dental Implant System) while 11 were in the control group; the analysis was performed in the peri-implant masticatory mucosa. The evaluation of the microcirculation was performed "in vivo" using the optical probe videocapillaroscopy technique equipped with 200× lenses. The following parameters were recorded: capillary density, vascular areas, microhaemorrhages and angioarchitecture. RESULTS: The values indicating the capillary density were significantly different in the test group compared to the control group, indicating an angiogenic process taking place "in vivo". In the test group the capillary loops were arranged parallel (30%) as well as perpendicular to the surface; in contrast, in the control group the gingival margin was always perpendicular to the surface (100%). CONCLUSIONS: The peri-implant vascular pattern exhibits special characteristics that differ both in morphology and density from the gingival one.

An unusual presence of primary retention of permanent teeth in subject with hyperthyroidism.

To date neither the eruption mechanism nor the factors controlling eruption have been completely understood. Primary retention of permanent teeth is an isolated condition associated with a localized failure of eruption with no other identifiable local or systemic involvement. Multiple primary retention may be related to lack of eruptive force, rotation of tooth buds, syndromes and metabolic disorders. This article reports an unusual case of primary retention of permanent teeth inclusion in a 21-year-old woman with hyperthyroidism, diagnosed at 14 years of age.

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

OBJECTIVE: To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy. METHODS: We studied a cohort of 117 female patients with febrile seizures (FS) and a wide spectrum of epilepsy phenotypes including focal and generalized forms with either sporadic or familial distribution. RESULTS: PCDH19 screening showed point mutations in 13 probands (11%). Mean age at seizure onset was 8.5 months; 8 patients (62%) presented with FS, 4 (33%) with cluster of focal seizures, and 1 with de novo status epilepticus (SE). Subsequent seizure types included afebrile tonic-clonic, febrile, and afebrile SE, absences, myoclonic, and focal seizures. Seven patients (54%) had a clinical diagnosis consistent with Dravet syndrome (DS); 6 (46%) had focal epilepsy. In most patients, seizures were particularly frequent at onset, manifesting in clusters and becoming less frequent with age. Mental retardation was present in 11 patients, ranging from mild (7; 64%) to moderate (1; 9%) to severe (3; 27%). Five patients (38%) had autistic features in association to mental retardation. Mutations were missense (6), truncating (2), frameshift (3), and splicing (2). Eleven were new mutations. Mutations were inherited in 3 probands (25%): 2 from apparently unaffected fathers and 1 from a mother who had had generalized epilepsy. CONCLUSIONS: PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation. In our cohort, epileptic encephalopathy with DS-like features and focal epilepsy of variable severity were the associated phenotypes and were equally represented.

Periventricular heterotopia in fragile X syndrome.

The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH). This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS.

Pergolide improvement in neuroleptic-resistant Tourette cases: various mechanisms causing tics.

The objective was to report the possibility that in Tourette's disorder (TD) the same pathways may not be involved in all patients. Tics in three children affected with TD showed no improvement after treatment with several neuroleptic drugs (D2 blockers) at appropriate doses. However, they did improve greatly and persistently with pergolide treatment. One of the 3 patients showed a less usual tic feature, the most relevant of which resembled violent myoclonias of both upper limbs. This suggests that in these patients the improvement due to pergolide is not linked to an effect on D2-receptors-carrying GABAergic neurons, as usually assumed, because the patients did not respond to neuroleptics acting in this way. In these 3 cases, unlike in other TD patents, a prevalent action of pergolide by pre-synaptic inhibition of dopamine release on D1-receptors-carrying GABAergic neurons is suggested. Therefore, direct and indirect pathways could be differentially involved in different cases of TD.