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1.
Zookeys ; 1072: 107-127, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34899009

RESUMO

Crayfish serve as a model for studying the effect of environmental lighting on locomotor activity and neuroendocrine functions. The effects of light on this organism are mediated differentially by retinal and extraretinal photoreceptors located in the cerebroid ganglion and the pleonal nerve cord. However, some molecular aspects of the phototransduction cascade in the pleonal extraretinal photoreceptors remain unknown. In this study, transcriptome data from the pleonal nerve cord of the crayfish Procambarusclarkii (Girard,1852) were analyzed to identify transcripts that potentially interact with phototransduction process. The Illumina MiSeq System and the pipeline Phylogenetically Informed Annotation (PIA) were employed, which places uncharacterized genes into pre-calculated phylogenies of gene families. Here, for the first time 62 transcripts identified from the pleonal nerve cord that are related to light-interacting pathways are reported; they can be classified into the following 11 sets: 1) retinoid pathway in vertebrates and invertebrates, 2) photoreceptor specification, 3) rhabdomeric phototransduction, 4) opsins 5) ciliary phototransduction, 6) melanin synthesis, 7) pterin synthesis, 8) ommochrome synthesis, 9) heme synthesis, 10) diurnal clock, and 11) crystallins. Moreover, this analysis comparing the sequences located on the pleonal nerve cord to eyestalk sequences reported in other studies reveals 94-100% similarity between the 55 common proteins identified. These results show that both retinal and pleonal non-visual photoreceptors in the crayfish equally expressed the transcripts involved in light detection. Moreover, they suggest that the genes related to ocular and extraocular light perception in the crayfish P.clarkii use biosynthesis pathways and phototransduction cascades commons.

2.
Mol Neurobiol ; 56(3): 1800-1811, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29931509

RESUMO

Perinatal asphyxia in the neonatal brain triggers a robust inflammatory response in which nitric oxide (NO) generation plays a hazardous role. Increased levels of NO can be maintained by the activity of inducible NO synthase (NOS2A) on its own or activated by IL-1beta (IL-1ß) gene transcription and positive back stimulation of the NOS2 (CCTTT)n microsatellite by IL-1ß, thus potentiating brain injury after ischemic perinatal asphyxia. We investigated whether the risk for cerebral palsy (CP) increases when an expansion of the - 2.5 kb (CCTTT)n microsatellite in the NOS2A gene and a single nucleotide polymorphism (SNP) in -C511T of the IL- IL-1ß gene promoter occur in patients after perinatal hypoxic-ischemic encephalopathy. Genomic DNA was purified from peripheral leukocytes of 48 patients with CP and of 57 healthy control children. IL-1ß SNP genotypes were established using a real-time PCR technique and fluorogenic probes and were validated by restriction fragment length polymorphism (RFLP) analysis using the AvaI restriction enzyme. The length of the CCTTTn microsatellite in the NOS2 gene promoter was determined by automated sequencing. The 14 repeat-long allele of the CCTTTn NOS2A microsatellite was present in 27% of CP patients vs 12.3% of controls, showing an odds ratio (OR) = 2.6531 and 95% confidence interval (CI) = 0.9612-7.3232 (P < 0.0469). The -511 TT genotype frequency showed an OR = 2.6325 (95% CI = 1.1348-6.1066, P = 0.0189). Interestingly, the haplotype CCTTT14/TT showed an OR = 9.561 (95%, CI = 1.1321-80.753; P = 0.0164). The haplotype (CCTTT)14/TT, formed by the expansion of the - 2.5 kb (CCTTT)n microsatellite in the NOS2A gene promoter and the -511 C➝ T SNP of the IL-1ß gene promoter, might be a useful marker to identify patients who are at high risk for developing CP after hypoxic-ischemic encephalopathy.


Assuntos
Paralisia Cerebral/genética , Predisposição Genética para Doença , Óxido Nítrico Sintase Tipo II/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Alelos , Estudos de Casos e Controles , Criança , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Interleucina-1beta/genética , Masculino , México , Repetições de Microssatélites , Regiões Promotoras Genéticas
3.
J Med Case Rep ; 10(1): 366, 2016 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-27998317

RESUMO

BACKGROUND: Tuberculosis is considered an emerging disease worldwide; in the last 10 years, its incidence has increased to more than 9.6 million cases of active tuberculosis. In 2014, it resulted in 1.5 million patient deaths. However, oral presentation with bone involvement occurs in less than 3% of all reported cases and rarely arouses clinical suspicion on initial presentation. CASE PRESENTATION: A 15-year-old Mexican girl who had a previous diagnosis of neurofibromatosis presented to our hospital with pain and swelling in the region of the left mandibular body since November 2011. A clinical examination revealed pain in the mandibular region, a mass of soft consistency that seemed to involve bone, and a fistula with discharge of intraoral purulent material. Additionally, tachycardia and hyperthermia were observed. The left submental and submandibular regions had a 12-cm-diameter swelling, which was well-delineated and nonerythematous. The final diagnosis was established by real-time polymerase chain reaction. CONCLUSIONS: The final diagnosis of rare cases of tuberculous osteomyelitis in the jaw can be established by deoxyribonucleic acid (DNA) identification of Mycobacterium tuberculosis in the lesion. Simple and fast complementary diagnosis by real-time polymerase chain reaction is a fundamental approach to establishing early and effective pharmacological and surgical treatment.


Assuntos
Antituberculosos/uso terapêutico , Doenças Mandibulares/microbiologia , Osteotomia Mandibular , Reconstrução Mandibular , Mycobacterium tuberculosis/isolamento & purificação , Tomografia Computadorizada por Raios X , Tuberculose Osteoarticular/microbiologia , Adolescente , Feminino , Humanos , Doenças Mandibulares/diagnóstico por imagem , Doenças Mandibulares/patologia , Doenças Mandibulares/terapia , Reconstrução Mandibular/métodos , Reação em Cadeia da Polimerase em Tempo Real , Resultado do Tratamento , Tuberculose Osteoarticular/diagnóstico por imagem , Tuberculose Osteoarticular/patologia , Tuberculose Osteoarticular/terapia
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