Jacks Jorge Junior

Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

BACKGROUND Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles. Oral features are frequent and include supernumerary teeth, delayed eruption or impaction of the permanent teeth, and malocclusion. Heterozygous mutations in RUNX2 gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD. OBJECTIVE AND METHODS Herein, we performed physical and radiographic examination and screening for RUNX2 mutations in 11 patients from five families with CCD. RESULTS All patients demonstrated the classical phenotypes related to CCD. Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with low frequency of dental abnormalities showed no mutation in RUNX2 or mutation outside of the runt domain (Q292fs→X299). CONCLUSION The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease.

Increased number of Langerhans cells in oral lichen planus and oral lichenoid lesions.

OBJECTIVE The aim of this study was to quantify the presence of Langerhans cells (LC) in oral lichen planus (OLP) and oral lichenoid lesions (OLL), comparing them with normal epithelium. STUDY DESIGN Thirty-six patients with biopsy-proven OLP or OLL were selected for the study, as well as 23 control subjects free of inflammatory conditions. Immunohistochemical reactions were performed using the streptavidin-biotin peroxidase complex method with CD1a and CD83 primary antibodies. Densities were compared between groups and correlated with microscopic findings. RESULTS Patients with lichenoid conditions (OLP + OLL) presented higher densities of CD1a(+) cells than the control subjects (P = .03). Higher densities of CD1a were associated with a thinner layer of inflammatory cells (P = .02). CONCLUSIONS This study indicates that OLP and OLL are characterized by the recruitment of LC, which may play a significant role on its pathogenesis.

HIV-1 anti-retroviral drug effect on the C. albicans hyphal growth rate by a Bio-Cell Tracer system

Declining incidence of oropharyngeal candidosis and opportunistic infections over recent years can be attributed to the use of highly active anti-retroviral therapy (HAART). Infection with C. albicans generally involves adherence and colonization of superficial tissues. During this process, budding yeasts are able to transform to hyphae and penetrate into the deep tissue. Using the biocell tracer system, C. albicans hyphal growth was dynamically observed at the cellular level. Ritonavir was effective in the inhibition of hyphal growth with growth rate of 0.8 mm/min. This study showed the in vitro effect of HIV anti-retroviral drug on the growth rate of the C. albicans hyphae.

Herpes zoster infection as a differential diagnosis of acute pulpitis

Many diseases can cause orofacial pain, and the diagnosis must be established before final treatment. This case report presents a patient with orofacial pain that was diagnosed as an acute pulpitis. However, there was no evidence of this problem on examination. After 4 days, the patient showed multiples vesicles on the face, and a herpes zoster viral infection was diagnosed. The patient was treated with acyclovir and, after 2 yr, she still complains of facial sensitivity.