Association Between Saliva Quantity and Content Parameters with Caries Intensity Levels: A Cross-Sectional Study Among Subcarpathian Children

Abstract Objective: To evaluate saliva quantity and content parameters among children of 7 and 12 years old, who permanently living on the territory of Subcarpathia with the registered territory-associated fluoride deficiency in the water, and their association with the caries status of pediatric patients. Material and Methods: The study sample was formed of 48 children (22 of 7 years old and 26 of 12 years old). The content of calcium in the oral liquid was determined by the o-cresolphthalein complexone method. Estimation of concentration rate and fluoride activity in the oral liquid was carried out by using the ion-selective electrode ELIS-131 F and ionometer EV-74. The content of inorganic phosphorus in saliva was determined using the phosphorus reaction with molybdic acid Results: Among all study samples, 18.8% were registered with low caries intensity level (DMF = 1.55 ± 0.16), 33.3% with moderate caries intensity level (DMF = 3.94 ± 0.29), and 47.9% with high caries intensity level (DMF = 9.05 ± 1.11). During the comparison of calcium content and mineralization coefficient values between children with low and high caries intensity levels registered difference was statistically significant (p<0.05), while for salivary flow rate parameter such difference was no significant (p>0.05). Between children with normal salivary flow rate, and children with a lowered salivary flow rate there was no statistical difference in such parameters as fluoride concentration, calcium content, phosphorus content and calcium-phosphorus balance (p>0.05) Conclusion: Caries intensity levels were more statistically associated with parameters of calcium content in saliva and related mineralization coefficient, rather than with the average salivary flow rate.

Embriopatía por isotretinoína: Una entidad que puede evitarse / Isotretinoin embryopathy: An entity that can be avoided

La isotretinoína es el medicamento más efectivo en el tratamiento del acné noduloquístico recalcitrante grave. Sin embargo, el tratamiento con este fármaco se encuentra asociado con efectos adversos, y el más grave es la teratogénesis. Se ha estimado que 40% de los embarazos expuestos a isotretinoína presenta un aborto espontáneo y 35% desarrolla embriopatía. Se presenta el caso de un recién nacido con antecedente de exposición prenatal a isotretinoína, una entidad clínica que puede evitarse, con graves defectos congénitos en el sistema nervioso central e importantes dismorfias faciales, con evolución clínica desfavorable.

Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been estimated that 40% of pregnancies exposed to isotretinoin present spontaneous abortion and 35% develop embryopathy. We present the case of a newborn with a history of prenatal exposure to isotretinoin, a clinical entity that can be avoided, with severe congenital defects in the central nervous system and important facial dysmorphisms, with unfavorable clinical course.

Estudio dínico y molecular en una familia con displasia cleidocraneal / Clinical and molecular study in a family with cleidocranial dysplasia

La displasia cleidocraneal es una displasia ósea infrecuente con patrón de herencia autosómico dominante, que se caracteriza por presentar talla baja, fontanelas amplias, hipoplasia mediofacial, ausencia o hipoplasia de clavículas y alteraciones orodentales. Es producida por mutaciones en el gen RUNX2 localizado en 6p21.1. Se presentan dos adolescentes masculinos (primos hermanos) con displasia cleidocraneal, los cuales mostraron mutación heterocigota, cambio de sentido (c.674G>A, p.R225Q) en el gen RUNX2, caracterizados por presentar fenotipo grave, como ausencia de clavículas, pero con variación en el retardo en el cierre de fontanelas, alteraciones dentales (anomalías en forma y número) y escoliosis, por lo que se demuestra la variación intrafamiliar en estos pacientes con el mismo genotipo.

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype / Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presen ting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devasta ting consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity.

El síndrome de Marfan es una enfermedad pleitrópica del tejido conjuntivo que exhibe un patrón de herencia autosómico dominante, en su mayoría causado por mutacio nes en el gen FBN1 , que se encuentra en el cromosoma 15q21.1 y codifica a la fibrilina 1. Se presenta un caso de síndrome de Marfan que cursa con manifestación sistémica severa cardíaca y principlamente ocular. El paciente presentó una valoración multidisciplinaria y su diagnóstico clínico fue asociado con la mutación c.3037G>A en el gen FBN1 . La identificación de esta alteración genética debe promover una pronta evaluación y supervisión con el fin de evitar las desvastadoras consecuencias, tales como el fenotipo cardíaco y ocular. El modelado comparativo de proteínas resalta la importancia de la conservación de la estructura del dominio de la fibrilina-1 dependiente de calcio similar al factor de crecimiento epidérmico y por lo tanto el proceso de formación microfibrilar. Este informe tiene como objetivo resaltar la importancia de un diagnóstico clínico y molecular temprano y el enfoque multidisciplinariode esta entidad genética.

Estudio dínico y molecular en una familia con displasia ectodermica hipohidrotica autosomica dominante / Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

La displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>T (p.Arg358X) en el gen EDAR, y se discuten los diferentes aspectos clínicos encontrados en esta mutación en los casos descritos en la literatura.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X / Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Las displasias ectodérmicas comprenden más de 200 entidades clínicamente distintivas, las cuales afectan, al menos, dos estructuras derivadas del ectodermo, que incluyen la piel, el pelo, las unas, los dientes, las glándulas sudoríparas y sebáceas. La displasia ectodérmica hipohidrótica ligada al X es el tipo más frecuente y es causada por mutación del gen EDA, que codifica la ectodisplasina-A. Su frecuencia es menor de 1 en 100000 individuos y se caracteriza clínicamente por presentar hipodoncia, hipohidrosis, hipotricosis y alteraciones oculares. Se expone el caso de un escolar evaluado de forma multidisciplinaria con diagnóstico clínico y molecular de displasia ectodérmica hipohidrótica ligada al X con mutación tipo cambio de sentido c.1133C>,T, p.T378M, en el gen EDA.

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

Types of rickets, dental and histologic findings: reviewof the literature / Tipos de raquitismo, aspectos dentários e histológicos: revisão de literatura

Introduction: A disease that occurs during childhood, rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can ocur because of the lack of calcified osteoid and the buildup of un ossified cartilage. Proper bone formation requires a complex interplay of several organs and chemicals, and vitamin D deserves special mention because any disturbance in its production, absorption, or metabolism is paramount in the development of rickets. The pathophysiology of the disease is thought to be impaired phosphate transport, especially decreased phosphate resorption in the renal proximal tubule, as well as in the intestine. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation. Early diagnosis is essential because morbidity can be minimized if children are treated before eight months of age. Objective: The aim of this literature review is to present various types of rickets with clinical features and the dental findings, preventive measurements and treatments. Conclusion: The dentist as well as the pediatrician should be made aware of the features of this disorder so that early intervention can prevent subsequent serious and more invasive dental procedures.

Introdução: O raquitismo, uma doença que ocorre durante a infância, é a falta de crescimento ósseo necessário para a mineralização. Diversas alterações radiográficas esqueléticas podem ocorrer devido a ausência de osteóide calcificado e a formação de cartilagem. A formação óssea adequada requer uma complexa interação de vários órgãos e produtos químicos, e a vitamina D merece uma menção especial, pois qualquer alteração na sua produção, absorção ou no seu metabolismo é fundamental para o desenvolvimento do raquitismo. Acredita-se que a fisiopatologia da doença está no transporte inadequado do fosfato, especialmente na diminuição da reabsorção de fosfato no túbulo renal proximal bem como no intestino. Na maioria dos casos, o diagnóstico é estabelecido com uma história completa e exame físico, e confirmado por exames laboratoriais. O diagnóstico precoce é essencial, pois a morbidade pode ser minimizada se as crianças forem tratadas antes dos oito meses de idade. Objetivo: Apresentar os vários tipos de raquitismo com suas características clínicas, aspectos dentários, medidas preventivas e tratamento. Conclusão: O cirurgião-dentista, bem como o pediatra, devem ser informados das características desta desordem para que a intervenção precoce possa evitar seqüelas subsequentes e procedimentos odontológicos mais invasivos.

A new method: measurement of microleakage volume using human, dog and bovine permanent teeth

This study investigates the feasibility of a different new approach to determining the microleakage volume associated with dental restorations (Class V cavity restorated with glass ionomer cement + high copper amalgam) and the relative marginal adaptation deficiency of dog, bovine and human permanent teeth in in vitro conditions. Also researched is the appropriateness of using dog and bovine teeth in in vitro studies rather than human teeth. Our method utilizes the molecular adsorption characteristics of methylene blue. Within the framework of this study, 60 permanent teeth (20 human, 20 dogs and 20 bovine) were used. These groups were evaluated statistically, of which indicated no statistically significant differences (p > 0.05). It was also concluded that this preliminary investigation showed that the new microleakage volume measurement method may be a valuable new technique for the in vitro study of microleakage dynamics around dental restorations.