Manifestaciones bucales en pacientes pediátricos con nefritis lúpica

Objective: The aim of this study was describe the most frequent oral manifestations in patients with Nephritis Lupus (LN)  as well as to make an updated bibliographic review of the classification, clinical treatment, treatment and dental management of the disease. Materials and method: A cross-sectional study was carried out with 9 children suffering from LN between the ages of 1 and 18 years, from the Pediatric Nephrology Service of the Hospital City Dr. Enrique Tejera, in Valencia, Venezuela, during the year 2016. Results: The results showed: more frequency of LN in female patients, with prevalence of 15 years old, and histological more frequent type III of LN. The oral manifestations found were: cheilitis, white spots, discoid erythema, geographical language, painless oral ulcers, cold sores, gingival enlargement, gingivitis, dry  mouth, pallor of oral mucosa and glossitis. Conclusions: It is concluded that the patient with LN has oral manifestations related to the systemic disease that suffers.Objetivo: El objetivo de este estudio fue describir las manifestaciones bucales más frecuentes en pacientes con Nefritis Lúpica (NL) así como hacer una revisión bibliográfica actualizada de la clasificación, manejo clínico y odontológico, y tratamiento de la enfermedad. Materiales y métodos: Se realizó un estudio transversal con 9 niños que sufrían NL en edades entre 1 a 18 años, del Servicio de Nefrología Pediátrica de la Ciudad Hospitalaria Dr. Enrique Tejera, en Valencia, Venezuela, durante el año 2016. Resultados: Se encontró mayor frecuencia de NL en pacientes femeninos, con prevalencia a los 15 años, e histológicamente frecuente de tipo III. Las manifestaciones bucales presentes fueron: queilitis, placas blanquecinas, eritema discoide, lengua geográfica, úlceras bucales indoloras, herpes labial, agrandamiento gingival, gingivitis, sensación de boca seca, palidez en mucosa oral y glositis. Conclusiones: Se concluye que el paciente con NL posee manifestaciones bucales relacionada

Heterozygous <em>COL17A1 </em>variants are a frequent cause of amelogenesis imperfecta

\ua9 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.Background: Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (&gt;230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. Methods: Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. Results: Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. Conclusion: These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care

Sialic Acid Glycobiology Unveils Trypanosoma cruzi Trypomastigote Membrane Physiology.

Trypanosoma cruzi, the flagellate protozoan agent of Chagas disease or American trypanosomiasis, is unable to synthesize sialic acids de novo. Mucins and trans-sialidase (TS) are substrate and enzyme, respectively, of the glycobiological system that scavenges sialic acid from the host in a crucial interplay for T. cruzi life cycle. The acquisition of the sialyl residue allows the parasite to avoid lysis by serum factors and to interact with the host cell. A major drawback to studying the sialylation kinetics and turnover of the trypomastigote glycoconjugates is the difficulty to identify and follow the recently acquired sialyl residues. To tackle this issue, we followed an unnatural sugar approach as bioorthogonal chemical reporters, where the use of azidosialyl residues allowed identifying the acquired sugar. Advanced microscopy techniques, together with biochemical methods, were used to study the trypomastigote membrane from its glycobiological perspective. Main sialyl acceptors were identified as mucins by biochemical procedures and protein markers. Together with determining their shedding and turnover rates, we also report that several membrane proteins, including TS and its substrates, both glycosylphosphatidylinositol-anchored proteins, are separately distributed on parasite surface and contained in different and highly stable membrane microdomains. Notably, labeling for α(1,3)Galactosyl residues only partially colocalize with sialylated mucins, indicating that two species of glycosylated mucins do exist, which are segregated at the parasite surface. Moreover, sialylated mucins were included in lipid-raft-domains, whereas TS molecules are not. The location of the surface-anchored TS resulted too far off as to be capable to sialylate mucins, a role played by the shed TS instead. Phosphatidylinositol-phospholipase-C activity is actually not present in trypomastigotes. Therefore, shedding of TS occurs via microvesicles instead of as a fully soluble form

Manejo odontológico de pacientes pediátricos comprometidos sistemáticamente. Revisión bibliográfica

El manejo del paciente pediátrico que está afectado por una enfermedad sistémica requiere de una capacitación por parte del odontopediatra. La patología debe ser conocida así como su manejo médico, hallazgos bucales y manejo odontológico, con la finalidad de hacer un correcto abordaje y evitar posibles complicaciones. Objetivo: Recopilar la opinión de diferentes autores en cuanto al manejo odontológico de algunas enfermedades sistémicas. Materiales y método: Revisión bibliográfica realizada por medio de consulta electrónica mediante las bases de datos: Pubmed, Ebsco-search, LILACS, Proquest y Biblioteca Cochrane Plus. Se presentan los resultados encontrados en la revisión sobre el manejo odontológico en las cardiopatías congénitas y adquiridas, alteraciones hormonales e inmunológicas, y diabetes. Conclusión: Después de esta revisión bibliográfica se puede concluir que la mayoría de los estudios del manejo de la salud dental en pacientes con compromisos médicos son pobres, aun cuando la necesidad es imperativa. Esta población está aún lejos de comprender plenamente la importancia de la salud bucal a menudo por falta de conocimientos