Clinical and radiographic features of pycnodysostosis : a case report

Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease. This study reports and discuss a case of pycnodysostosis. In addition, a search of articles published in PubMed-Medline was performed. The case was a 13-year-old girl who was referred to a private clinic for dental treatment. Clinical examination showed midface hypoplasia, prominent cheeks, a high nasal bridge, beaked nose, spoon-shaped fingers, frontal bossing, open fontanelles and dental alterations, findings compatible with pycnodysostosis. Patients with this disease also suffer from fractures because of bone hardness with almost no elasticity, a fact that requires special care particularly in the case of children and adolescents. The diagnosis of pycnodysostosis is made based on clinical and radiographic findings. Clinicians should be aware of this disorder to provide adequate dental treatment

Calcifying odontogenic cyst : a 26-year retrospective clinicopathological analysis and immunohistochemical study

Background: To identify the prevalence and clinicopathological profile of calcifying odontogenic cysts (COC) stored at an oral pathology service, and to analyze the immunoexpression of cyclooxygenase 2 (COX-2) and cyclin D1 (CD1) in these cysts. Material and Methods: After a retrospective analysis (1990-2016) carried out to identify cases of COC, a sample of 12 cases was selected for immunohistochemical analysis of COX-2 and CD1 by the immunoperoxidase technique. Protein expression was evaluated semiquantitatively by attributing a score of 0 to 3 (0 = no staining; 1 = 1-25%; 2 = 26-50%, and 3 = >51% immunopositive cells). Results: Twenty cases of COC were diagnosed over the study period. These cysts were more common in the posterior mandible and in men (male-to-female ratio of 1.2:1), with a mean age of 29.9 years. Among the 12 cases analyzed, immunoexpression of COX-2 was observed only in the inflammatory infiltrate in 50% of the cysts (n = 6). Protein CD1 was detected (score 1) in 66.6% of cases (n = 8), and COX-2 was negative in 50% (n = 6). Conclusions: The prevalence of COC among all odontogenic cysts was 3.5%, representing an uncommon lesion. Immunohistochemical analysis suggested that COX-2 does not participate in lesion progression. The cell proliferation index of COC was low, as demonstrated by the expression of CD1, suggesting a proliferative profile compatible with more indolent lesion

Nonsyndromic cleft lip and/or palate : a multicenter study of the dental anomalies involved

Nonsyndromic cleft lip and/or palate (NSCL/P) is the most common craniofacial malformation. Due to the anatomical defect present in the alveolar process, these patients tend to exhibit more dental anomalies. The aim of this study was to identify the prevalence of dental anomalies in patients with NSCL/P by obtaining orthodontic documentation from Brazilian Centers for cleft lip and palate treatment. A retrospective analysis (2000-2014) was conducted on orthodontic archives, radiographs and medical records of NSCL/P of 524 patients under orthodontic treatment. Panoramic radiographs and intra-oral photographs were examined to identify these anomalies. Categorical variables were expressed in terms of frequencies and percentages and analyzed using the Chi-Square test. The level of significance was set at p?0.05 in all analyses. Approximately 83.3% of the individuals had at least one dental anomaly. Tooth agenesis was the most common abnormality found in those patients (87.8%) (p<0.001). Also, the largest number of dental anomalies was detected in the group of unilateral left clefts. The prevalence of dental anomalies in the present sample of NSCL/P patients was high and reached the highest levels in patients with alveolar bone clefts. This study describes the most common dental anomalies observed in patients with NSCL/P. These abnormalities can cause significant problems that may be solved or minimized by early diagnosis and treatment

Incidencia de la fibrosis quística en Paraguay

Introducción: Fibrosis quística (FQ) patología genética, autosómica recesiva por mutaciones en el gen de la proteína reguladora de la conductancia transmembrana (CFTR cystic fibrosis transmembrane regulator). En una enfermedad multisistémica, afecta el aparato respiratorio, sistema digestivo, glándulas sudoríparas y conducto deferente. En Paraguay la detección, diagnóstico y tratamiento es obligatoria y gratuita para todo recién nacidos (RN). El tamizaje neonatal es realizado a través del dosaje de la tripsinainmuno reactiva (TIR) y la confirmación diagnóstica con el test del sudor. Objetivo: Reportar la incidencia de la FQ en la población de RN de Paraguay. Materiales y Métodos: Es un trabajo descriptivo, retrospectivo de corte trasversal, donde se analizaron los datos del Programa Nacional de Detección Neonatal (PNDN), de enero del 2015 a diciembre del 2017, para el análisis de la base de datos se utilizó una planilla Excel. Resultados: En el 2015 un 91% (79.093/87.181) de las muestras ingresadas al Programa reunieron los criterios (edad y calidad de la muestra) para el estudio de la TIR, arrojando una incidencia de 1 en 6.591 RN. Para el 2016, esto correspondió a un 97% (83.525/86.094) con una incidencia de 1 en 4.176 RN y por último en el 2017, se tuvo un 97% (87.075/90.037) con una incidencia de 1 en 5.112 RN. Conclusión: La incidencia de la FQ en la población de recién nacidos del Paraguay, en los tres años que abarca este estudio, no presentan entre sí diferencias significativas, tampoco con las reportadas para la población hispánica.   Correspondencia: Marta Ascurra; Correo: [email protected]   Conflicto de intereses: Los autores declaran no poseer conflicto de interés   Recibido: 03/08/2018; Aceptado: 28/12/201