Enfermedad de Pyle: un modelo humano de homeostasis corticotrabecular diferenciada / Pyle's Disease: a human model of differentiated cortical and trabecular homeostasis

La enfermedad de Pyle (OMIN número 265900) es una displasia metafisaria de curso benigno que se hereda con un patrón autosómico recesivo. Se han descrito unos 30 casos genuinos hasta el momento. La causa de este proceso se conoce desde 2016, cuando se descubre su relación con mutaciones en el gen que codifica la proteína sFRP, un conocido inhibidor de la vía Wnt. Se presenta el caso de un varón de 58 años, diagnosticado de enfermedad de Pyle con base en sus características clínicas y radiográficas, cuyo fenotipo muestra un control diferencial de la homeostasis del hueso cortical y trabecular

Pyle's disease (OMIN number 265900) is a metaphyseal dysplasia of benign course, inherited with an autosomal recessive pattern. Some 30 genuine cases have been described so far. The cause of this process has been known since 2016, when its relationship to mutations in the gene encoding the sFRP protein, a known inhibitor of the Wnt pathway, was discovered. We report the case of a 58-year-old man, diagnosed with Pyle's disease based on his clinical and radiographic characteristics, whose phenotype suggested a differential control of cortical and trabecular bone homeostasis

Assesment of accessory branches of canalis sinuosus on CBCT images

BACKGROUND: The aim of this study is to describe the presence, to reveal the frequency and characteristics of accessory canals (ACs) of the canalis sinuosus (CS) by cone beam computed tomography (CBCT). MATERIAL AND METHODS: A total of 326 CBCT examinations were scanned retrospectively. The anatomical views were evaluated on sagittal, axial, coronal and cross sectional imaging. The following parameters were recorded: age, sex, presence or absence of ACs, location in relation to the adjacent teeth and distance to the nasal cavity floor (NCF), alveolar ridge crest (ARC) and buccal cortical bone (BCB), and incisive canal. All the collected data were statistically analyzed. RESULTS: 113 patients (34,7%); presented ACs in total 214 foramina of the sample. There were no statistically sig-nificant changes in the presence of ACs regarding age groups excluding 80-89 years. But there is a statistically significant difference regarding the frequency of ACs and the gender. The prevalence for male patients was higher than female patients. Curved-shape configuration of CS prevalence is found as 69,15%. The prevalence of vertical tracing is 26,16% and Y-shape configuration of CS prevalence is 4,67%. Diameter of the foramens of the CS branches was 1.30 mm. The mean distance of the AC to the NCF, BCB, and ARC were found 13,83 mm, 6,60 mm and 5,32 mm, respectively. CONCLUSIONS: In the anterior palatal region, ACs are mostly related to CS's branches. So; knowing the course of CS branches in surgical planning and radiographic evaluations in this region is extremely important for preventing complications and avoiding misdiagnosis

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Noi de 13 anys amb lesió òssia osteolítica / No disponible

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Loss of the nutrient sensor TAS1R3 leads to reduced bone resorption

The taste receptor type 1 (TAS1R) family of heterotrimeric G protein-coupled receptors participates in monitoring energy and nutrient status. TAS1R member 3 (TAS1R3) is a bi-functional protein that recognizes amino acids such as L-glycine and L-glutamate or sweet molecules such as sucrose and fructose when dimerized with TAS1R member 1 (TAS1R1) or TAS1R member 2 (TAS1R2), respectively. It was recently reported that deletion of TAS1R3 expression in Tas1R3 mutant mice leads to increased cortical bone mass but the underlying cellular mechanism leading to this phenotype remains unclear. Here, we independently corroborate the increased thickness of cortical bone in femurs of 20-week-old male Tas1R3 mutant mice and confirm that Tas1R3 is expressed in the bone environment. Tas1R3 is expressed in undifferentiated bone marrow stromal cells (BMSCs) in vitro and its expression is maintained during BMP2-induced osteogenic differentiation. However, levels of the bone formation marker procollagen type I N-terminal propeptide (PINP) are unchanged in the serum of 20-week-old Tas1R3 mutant mice as compared to controls. In contrast, levels of the bone resorption marker collagen type I C-telopeptide are reduced greater than 60% in Tas1R3 mutant mice. Consistent with this, Tas1R3 and its putative signaling partner Tas1R2 are expressed in primary osteoclasts and their expression levels positively correlate with differentiation status. Collectively, these findings suggest that high bone mass in Tas1R3 mutant mice is due to uncoupled bone remodeling with reduced osteoclast function and provide rationale for future experiments examining the cell-type-dependent role for TAS1R family members in nutrient sensing in postnatal bone remodeling

Defecto cortical postraumático. A propósito de un caso / Post-traumatic cortical defect: presentation of a case

El defecto cortical postraumático aparece 3 meses después de una fractura en tallo verde o un rodete en niños. Esta entidad es asintomática y se suele localizar proximal a las fracturas. El hueso más afectado suele ser el radio distal. Su patogénesis es controvertida, aunque parece que se debe a la acumulación de una mezcla de sangre y grasa intramedular debajo del periostio íntegro. Su diagnóstico se basa en estudios de imagen de TC y RM, y no necesitan ningún tratamiento; su resolución espontánea es lo habitual. Hay solamente 25 casos publicados en la literatura inglesa y nosotros en este trabajo presentamos uno más tras una epifisiólisis tipo ii de radio distal (AU)

Post-traumatic cortical defect appears 3 months after greenstick or torus fractures in children. This entity is asymptomatic and usually located just proximal to the fracture site. The most frequently affected bone is the distal radius. The pathogenesis of this lesion remains unclear but it seems to be caused by an intramedullary fat and blood accumulation beneath a intact periostium. Its diagnosis is based on CT and MR images and no treatment is needed, because its resolution is the rule. There are only 25 cases reported in English literature, we present another one after an epiphisiolysis in the distal radius (AU)