939 resultados para NONSYNDROMIC CLEFT-LIP


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This study aimed at determining the levels of macronutrients (N, P, K, Ca, Mg and S) in grafted plants by contact methods such as bevel, cleft grafting by full rift and approach, as compared to non grafted plants. Analyses were performed in different parts of the plants under fertigation in a greenhouse. The hybrid and rootstock were AF 7125 and AF 8253, respectively. The nutrients were supplied via fertigation during the 150-day cycle. The experiment was carried out at the Teaching, Research and Production Farm in São Manuel city, SP which belongs to FCA-UNESP Campus in Botucatu city/SP. A total of 4 treatments and 5 replications were used. Each plot consisted of 12 plants. Chemical analyses were performed in one plant per plot at 35, 85, 112 and 143 days after transplantation to determine nutrient concentrations. The results showed that the macronutrient concentrations in a decreasing sequence in the vegetative parts (leaf + stem) were as follows: K > N > Ca > Mg > S > P; and in the fruits: K > N > P > S > Mg > Ca. Macronutrient concentrations were similar among grafted plants as compared to ungrafted plants, and the rootstock may have influenced absorption and translocation of minerals in grafted plants.

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The production of ethanol and sugar from sugarcane juice generate as byproduct, the bagasse. Currently, the bagasse, an industrial lignocellulosic biomass, can be used for production of second-generation ethanol, since when it is submitted to hydrolytic processes generates fermentable sugars. The objective of this study was to produce fungal enzymes capable of hydrolyzing this lignocellulosic biomass to generate glucose. For this, we used the mushroom species Lentinula edodes, Pleurotus ostreatus, Pleurotus eryngii, and Pycnoporus sanguineus as potential sources of laccase, manganese peroxidase and lignin peroxidase enzymes, capable of hydrolyzing the crushed sugarcane. The hydrolysis process was performed with the highest enzymatic activities observed from laccase in L. edodes (39.23 U-mL after 25 day incubation), P. ostreatus (2.5 U U-mL after 27 day incubation), P. sanguineus (80 U-mL after 27 days of incubation) and P. eryngii (16.45 U-mL 15 days incubation). MnP and LiP showed no significant results. The enzymatic hydrolysis of sugarcane bagasse in natura (32,17% hemicellulose, cellulose 52,45% and 10,62% lignin) and bagasse hydrolyzate with 7,0% H2SO4 (0,20% hemicellulose, 68,82% to 25,33% cellulose and lignin) were evaluated for each enzymatic obtained. Compared to others, the enzymes produced by P. sanguineus incubated in sugarcane bagasse showed better efficiency resulting in glucose with an average content of 0,14 g-L. Although the levels of glucose determined in this work were low in relation to the literature, it can be stated that the laccase, manganese peroxidase and lignin peroxidase enzymes demonstrated good hydrolytic potential, especially those produced by the fungus P. sanguineus.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Patterns of population dynamics of Loligo plei and Loligo sanpaidensis in Southeastern Brazil were investigated with samples obtained from commercial catches and research cruises from 1999 to 2000 and from 2002 to 2003. Size and maturity Structure of the two species varied according to depth and season. Body size decreased with depth for L plei, whereas for L. sanpaidensis size increased with depth LIP to 100 m and decreased again in deeper areas. GSI and incidence of mature animals decreased with depth in both species. L. plei females matured at a larger size in summer, while size at maturity in L. sanpaulensis was greater in autumn. For L. plei, reproductive events Occurred in the late winter and spring, in depths up to 40 m, and during summer in inshore waters. L. sanpaidensis increased reproductive activity ill Summer, winter and spring between depths of 30 and 80 Ill. The presence of high proportions of immature Squid offshore Suggests that juveniles might develop in these areas and, upon maturation, migrate back to inshore waters to spawn, particularly in spring and Summer. However, differences found in aggregation patterns in different depth strata, as well as the seasonal differences found in the size structure of L. plei and L. sanpaidensis, Could ultimately be due to Changes in the water Column related to food availability. Considering that L. plei and L. sanpaidensis are both caught as by-catch by shrimp trawlers throughout file year, we also discuss hypotheses on the life cycle of the species and its implications for fishery management. We recommend measures to protect squid spawning grounds by creating spring and summer protected areas where trawling would be prohibited until 60 m depth, i.e. in the area and time of year when mature individuals concentrate.

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BACKGROUND: Actinic cheilitis, a common disease caused by chronic solar exposure and tobacco use, is considered a premalignant lesion with potential to develop into squamous cell carcinoma. Some of the available treatments are invasive, have unaesthetic results and require multiple sessions. OBJECTIVE: To assess the efficacy of a therapy and its cosmetic results. METHODS: In this uncontrolled clinical trial a single photodynamic therapy (PDT) session using 16% methyl-aminolevulinate was performed on actinic cheilitis of the lower lip. A standardized questionnaire was applied in order to assess the clinical improvement from the patients' point of view and the satisfaction with the treatment. Anatomopathological evaluation was performed before the treatment and two months afterwards. RESULTS: The sample was composed of 19 patients (10 males and 9 females), phototypes I to III, with average age of 62 years. Main adverse effects were: sudden pain, scabs, herpes flare-up, and edema. The average score of pain during the procedure was 5,8+2,9. At the final assessment the patients reported improvement of 80% and satisfaction of 85% (p<0.01). Anatomopathological analysis showed a significant decrease of dysplasia (p=0.03) in spite of its presence in 84% of cases. There was no significant correlation between the level of dysplasia with either the subjective impression of clinical improvement (p=0.82) or with the patients' final satisfaction (p=0.96). CONCLUSION: PDT is effective in the treatment of actinic cheilitis, but it is associated with a significant level of pain. Due to the persistence of dysplasia, more research needs to be done in order to define the ideal number of sessions for the effective treatment of these lesions.

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We ascertained a Brazilian family with nine individuals affected by autosomal dominant nonsyndromic sensorineural hearing loss. The bilateral hearing loss affected mainly mid-high frequencies, was apparently stable with an early onset. Microsatellites close to the DFNA8/DFNA12 locus, which harbors the TECTA gene, showed significant multipoint lod scores (32) close to marker D11S4107. Sequencing of the exons and exon-intron boundaries of the TECTA gene in one affected subject revealed the deletion c.5383 + 5delGTGA in the 5' end of intron 16, that includes the last two bases of the donor splice site consensus sequence. This mutation segregates with deafness within the family. To date, 33 different TECTA mutations associated with autossomal dominant hearing loss have been described. Among them is the mutation reported herein, first described by Hildebrand et al. (2011) in a UK family. The audioprofiles from the UK and Brazilian families were similar. In order to investigate the transcripts produced by the mutated allele, we performed cDNA analysis of a lymphoblastoid cell line from an affected heterozygote with the c.5383 + 5delGTGA and a noncarrier from the same family. The analysis allowed us to identify an aberrant transcript with skipping of exon 16, without affecting the reading frame. One of the dominant TECTA mutations already described, a synonymous substitution in exon 16 (c.5331 G<A), was also shown to affect splicing resulting in an aberrant transcript lacking exon 16. Despite the difference in the DNA level, both the synonymous substitution in exon 16 (c.5331 G<A) and the mutation described herein affect splicing of exon 16, leading to its skipping. At the protein level they would have the same effect, an in-frame deletion of 37 amino-acids (p.S1758Y/G1759_N1795del) probably leading to an impaired function of the ZP domain. Thus, like the TECTA missense mutations associated with dominant hearing loss, the c5383 + 5delGTGA mutation does not have an inactivating effect on the protein. (C) 2012 Elsevier B.V. All rights reserved.

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To prevent rejection of kidney transplants, patients must be kept in immunosuppressive therapy for a long time, which includes the use of drugs such as cyclosporine, azathioprine, cyclophosphamide, and prednisone. The action of these drugs reduces the general immune response of transplant patients and thus increases their susceptibility to infections. Moreover, these drugs increase the potential of developing lesions. Therefore, oral hygiene in kidney transplant recipients contributes to maintenance of the transplanted organ and its function. Thus, an investigation of oral lesions could be counted as a notable work. The aim of this study was to investigate oral lesions in a group of 21 kidney transplant patients under immunosuppressive therapy attended during a 1-year period in the Nephrology Department of the Federal University of Sergipe, Brazil. Data related to sex, age, etiology of renal disease, types of renal transplant, time elapsed after transplantation, immunosuppressive treatment, use of concomitant agents, and presence of oral lesions were obtained. All patients received a kidney transplant from a living donor, and the mean posttransplantation follow-up time was 31.6 months; 71.5% used triple immunosuppressive therapy with cyclosporine A, azathioprine, and prednisone. Ten patients were also treated with calcium-channel blockers. Of the 21 transplant patients, 17 (81%) presented oral lesions. Gingival overgrowth was the most common alteration, followed by candidiasis and superficial ulcers. One case of spindle cell carcinoma of the lower lip was observed. Oral cavity can harbor a variety of manifestations related to renal transplantation under immunosuppressive therapy.

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Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

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Conclusion: The extended retrolabyrinthine approach (RLA) is a safe and reliable approach for auditory brainstem placement in children. The surgical landmarks to reach cochlear nucleus are adequately exposed by this approach. Objective: To describe a new approach option for auditory brainstem implants (ABIs) in children, highlighting the anatomical landmarks to appropriately expose the foramen of Luschka. Methods: Three prelingually deafened children consecutively operated for ABIs via the RLA. Results: ABI placement via the RLA was successfully performed in all children without any further complications except multidirectional nystagmus in one child. The RLA we employed differed from that used for vestibular schwannoma only in the removal of the posterior semicircular canal. The lateral and superior semicircular canals and the vestibule remained intact, and there was no need to expose the dura of the internal auditory meatus. The jugular bulb was completely exposed to allow adequate visualization of the ninth cranial nerve and cerebellar flocculus.

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Objective. The objective of this study was to investigate the prevalence of dental anomalies in individuals with Richieri-Costa-Pereira syndrome. Study Design. A total of 13 individuals with Richieri-Costa-Pereira syndrome who were older than 8 years with at least 1 available panoramic radiograph were assessed. Dental anomalies were evaluated clinically and radiographically and classified as hyperplastic, hypoplastic, or heterotopic and as alterations of shape, number, position, and structure. Enamel alterations were classified by the DDE index. Results. All individuals exhibited anomalies, with predominance of hypoplastic disorders, mainly agenesis of mandibular incisors and second premolars and demarcated creamy-white enamel opacities primarily affecting the maxillary premolars. Conclusions. Individuals with Richieri-Costa Pereira syndrome exhibit high prevalence of tooth agenesis, especially mandibular incisors and premolars, as well as high frequency of enamel opacities. These findings are compatible with the mandibular cleft observed in all individuals and also reflect the hypoplastic characteristic of the syndrome. (Oral Surg Oral Med Oral Pathol Oral Radiol 2012;114:99-106)

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We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49?kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. (c) 2012 Wiley Periodicals, Inc.

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Introduction: The purpose of this study was to compare the anesthetic efficacy of 0.5% bupivacaine with 1:200,000 epinephrine with that of 2% lidocaine with 1:100,000 epinephrine during pulpectomy in patients with irreversible pulpitis in mandibular posterior teeth. Methods: Seventy volunteers, patients with irreversible pulpitis admitted to the Emergency Center of the School of Dentistry at the University of Sao Paulo, randomly received a conventional inferior alveolar nerve block containing 3.6 mL of either 0.5% bupivacaine with 1:200,000 epinephrine or 2% lidocaine with 1:100,000 epinephrine. During the subsequent pulpectomy, we recorded the patients subjective assessments of lip anesthesia, the absence/presence of pulpal anesthesia through electric pulp stimulation, and the absence/presence of pain through a verbal analog scale. Results: All patients reported lip anesthesia after the application of either inferior alveolar nerve block. By measuring pulpal anesthesia success with the pulp tester, lidocaine had a higher success rate (42.9%) than bupivacaine (20%). For patients reporting none or mild pain during pulpectomy, the success rate of bupivacaine was 80% and lidocaine was 62.9%. There were only statistically significant differences to the success of pulpal anesthesia. Conclusions: Neither of the solutions resulted in an effective pain control during irreversible pulpitis treatments of mandibular molars. (J Endod 2012;38:594-597)

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Epidermal or epidermoid cysts usually are benign, solitary-growing masses located in the mid- or lower dermis. They are believed to derive from pilosebaceous units and are lined with an epidermis-like epithelium including a granular cell layer.(1) The occurrence of multiple epidermal cysts on the scalp of nonsyndromic patients is extremely rare. Although the presence of squamous cell carcinoma in the wall of an isolated epidermoid cysts is well documented in the dermatological literature,(2,3) the authors are not aware of any article in the English literature describing orbital invasion by a carcinoma developed in isolated or multiple epidermoid cysts.

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Focal adhesion kinase (FAK) regulates cellular processes that affect several aspects of development and disease. The FAK N-terminal FERM (4.1 protein-ezrin-radixin-moesin homology) domain, a compact clover-leaf structure, binds partner proteins and mediates intramolecular regulatory interactions. Combined chemical cross-linking coupled to MS, small-angle X-ray scattering, computational docking and mutational analyses showed that the FAK FERM domain has a molecular cleft (similar to 998 angstrom(2)) that interacts with sarcomeric myosin, resulting in FAK inhibition. Accordingly, mutations in a unique short amino acid sequence of the FERM myosin cleft, FP-1, impaired the interaction with myosin and enhanced FAK activity in cardiomyocytes. An FP-1 decoy peptide selectively inhibited myosin interaction and increased FAK activity, promoting cardiomyocyte hypertrophy through activation of the AKT-mammalian target of rapamycin pathway. Our findings uncover an inhibitory interaction between the FAK FERM domain and sarcomeric myosin that presents potential opportunities to modulate the cardiac hypertrophic response through changes in FAK activity.