Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.

OBJECTIVES: Previous studies showed that noggin gene (NOG) sequence alterations, as well as epigenetic factors, could influence mandibular development. The aim of this study was to analyze clinical characteristics, NOG gene sequences, and promoter methylation sites in patients with mandibular micrognathism. MATERIALS AND METHODS: A total of 35 individuals of five Colombian families were subject to clinical and cephalometric analysis for mandibular micrognathism. One nonaffected individual of each family was included as a control. DNA was isolated from whole blood sample from all individuals by salting out method. Nine NOG gene fragments were amplified by polymerase chain reaction (PCR) and sequenced. Identification of CpG islands for methylation analysis at the NOG gene promoter was performed by MSP-PCR kit (Qiagen R). STATISTICAL ANALYSIS: A descriptive statistical analysis was carried out evaluating the presence or absence of genetics variants and the methylation sites in the NOG gene. RESULTS: NOG sequence results of affected individuals with mandibular micrognathism for one of the families studied demonstrated that they were heterozygous for 672 C/A (new mutation). For a second family, individuals were heterozygous for 567 G/C (single nucleotide polymorphism [SNP] RS116716909). For DNA analyzed from all patients studied, no methylations were observed at the NOG gene promoter region. CONCLUSION: Our results suggested that 672 C/A and 567 G/C variants could be involved in the presence of mandibular micrognathism. Moreover, lack of methylation sites at the NOG gene promoter region of all individuals studied suggests possibly other epigenetic factors could modulate mandibular growth. The search of genetic variants related with mandibular micrognathism will allow to predict in an integral way the development patterns of the patients and therefore establish a better clinical treatment.

Influencia de la luz azul sobre la productividad del cultivo sólido de Ganoderma lucidum / Influence of blue light on the productivity of the solid culture of Ganoderma lucidum

RESUMEN Ganoderma lucidum es un hongo macromiceto reconocido por sus propiedades medicinales y su contenido de compuestos bioactivos que incluyen polisacáridos, triterpenoides, proteínas inmunomoduladoras, entre otros, lo que ha generado un incremento notable en su producción. La mayoría de especies de hongos responden y se adaptan a diversas señales ambientales incluida la luz, que favorece su productividad, tanto en calidad como en cantidad al estar estrechamente relacionada con la formación de cuerpos fructíferos. Por tal razón, el objetivo de este estudio fue evaluar la eficiencia biológica (EB) y la tasa de producción (TP) como parámetros de productividad del cultivo sólido de Ganoderma lucidum bajo irradiación de los sustratos con luz emitida por diodos azules (LED) con dos periodos de foto-estímulo de 12 y 24 h durante todas las fases de cultivo para inducir el crecimiento micelial y la formación de los cuerpos fructíferos. Se aplicaron parámetros convencionales para el crecimiento y desarrollo del hongo en las etapas de producción. Para la formulación de los sustratos, se emplearon residuos agroindustriales y materiales lignocelulósicos. El diámetro de los cuerpos fructíferos sometidos a tratamientos con luz azul fue mayor que los exhibidos a luz blanca fluorescente (Testigo). Los resultados muestran que el cultivo de Ganoderma lucidum con exposición a la luz azul es útil para la inducción de cuerpos fructíferos de alta calidad, logrando una disminución del periodo de fermentación en 16 días para el foto-estímulo de 24 h con EB de 28,04% y TP de 0,64.

ABSTRACT Ganoderma lucidum, a renowned fungus for its medicinal properties and content of bioactive compounds include polysaccharides, triterpenoids, immune modulatory proteins, among others; it has generated a significant increase and interest in its production. Most species of fungi respond and adapt to various environmental signal including light, which affects it not only in productivity, but also in quality and quantity to be closely related to the fruiting bodies. Therefore, the objective of this study was evaluating the biological efficiency (EB) and the rate of production (TP) as production parameters of the solid culture of Ganoderma lucidum at under irradiation of the substrate with light emitting diodes blue (LED) with two levels of photo-stimulation constant 12 and 24 h during all steps of culture to induce mycelial growth and the formation of fruiting bodies. Conventional parameters were applied to stimulate the growth and development of the fungus in the stages of production. For the formulation of substrates agro-industrial waste and lignocellulosic materials were used. The diameter of the fruiting bodies under blue light treatments was higher than those exposed to white fluorescent light (control). The results show that the cultivation of Ganoderma lucidum with exposure to blue light is useful for induction of fruiting bodies of high quality, achieving a reduction of the period of fermentation in 16 days for the photo-stimulation of 24 h with EB of 28,04% and TP of 0,64.

Orbital Reconstruction in Neuroectodermal Tumor of the Orbit: Multimodal Treatment Approach.

INTRODUCTION: Primitive neuroectodermal tumors of peripheral origin are very rare, and orbital neuroectodermal tumors are even more uncommon. Only 25 patients with primary orbital involvement in the pediatric age group have been reported. METHODS: In this article, the authors describe their experience in the multimodality treatment approach to treat neuroectodermal tumor of the orbit. The authors also present a male patient 3-year old presenting with a neuroectodermal tumor of the right orbit causing rapidly progressive proptosis. The patient underwent an upper and lateral orbital marginotomy. The entire bone defect was reconstructed with a bone graft, allowing for the reconstruction of the floor and the lateral wall of the middle cranial fossa, the floor of the anterior cranial fossa, the upper and lateral orbital frame, and the right zygomatic bone. Over a period of 16 months, the patient was subjected to chemotherapy. RESULTS: In the postoperative period, a favorable evolution of the disease was observed, with growth in the reconstructed structures, good projection of the orbit and the eyeball, and stable results without tumor recurrence. CONCLUSIONS: The authors present the clinical analysis, surgical management, as well as the chemotherapy treatment established, with follow-ups at 1 and 2 and a half years. This experience shows the effectiveness of multimodality therapy in the treatment of rare tumors of difficult handling.

Modifications of antitumor defenses by tumor derived factors and by superantigens

There is ample evidence that tumor development can be affected by the interactions between the growing neoplasms and the immune system. The balance of these interactions is tilted in favor of tumor growth in many cases due to the production of cytokines and other factors by the tumor cells. These factors can modulate the immune system either by direct interactions with immune cells or by indirect means, which include downregulation of the synthesis of other cytokines or products necessary for the activity of a given effector cell. In addition, endogenous retroviral superantigens, with their capacity of eliminating part of the T cell repertoire and possibly by other effects on cells of the T and B cell lineages, may provide the tumor cells an escape from the otherwise efficient antitumor host defenses

Modifications of antitumor defenses by tumor derived factors and by superantigens

There is ample evidence that tumor development can be affected by the interactions between the growing neoplasms and the immune system. The balance of these interactions is tilted in favor of tumor growth in many cases due to the production of cytokines and other factors by the tumor cells. These factors can modulate the immune system either by direct interactions with immune cells or by indirect means, which include downregulation of the synthesis of other cytokines or products necessary for the activity of a given effector cell. In addition, endogenous retroviral superantigens, with their capacity of eliminating part of the T cell repertoire and possibly by other effects on cells of the T and B cell lineages, may provide the tumor cells an escape from the otherwise efficient antitumor host defenses (Au)