RESUMO
El examen citogenético, es una herramienta importante para confirmar el diagnóstico, manejo y consejo genético. El objetivo es analizar las características del fenotipo neuroconductual, protocolizar y orientar en la eficaz solicitud del estudio citogenético. Se revisaron las fichas clínicas de los pacientes controlados del policlínico de Neuropediatría del Hospital de Puerto Montt, con cariograma anormal entre los años 2007 y 2012. De 248 pacientes, 12% se identificó una alteración; 58% aberraciones estructurales, 20% aneuploidías, y 20% alteraciones genético - moleculares. Los elementos clínicos que se encontraron fueron microcefalia 48%, retraso mental 67%, historia familiar 67%, hipotonía 70%, convulsiones 41%, alteraciones del SNC 37%.
Cytogenetic examination is an important tool for confirming diagnosis, case management and genetic counseling. The aim is to analyze the characteristics of neurobehavioral phenotypes, formalize and guide the effective application of cytogenetics. The medical records of patients with abnormal karyotype seen between 2007 and 2012 at the Hospital of Puerto Montt's neuropaediatric outpatient clinic were reviewed. Of 248 patients, in 12% an alteration was identified; 58% structural aberrations, 20% aneuploidy, and 20% genetic-molecular alterations. The clinical elements found were 48% microcephaly, 67% mental retardation, 67% family history, 70% hypotonia, 41% seizures, 37% CNS disorders.
Assuntos
Humanos , Criança , Análise Citogenética/estatística & dados numéricos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Fenótipo , Cariótipo , Aneuploidia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Microcefalia/diagnóstico , Microcefalia/genéticaRESUMO
Ante un brote de una enfermedad infecto-contagiosa, el estudio de contactos limita la transmisión de esta. El objetivo de este trabajo fue identificar a los contactos de los posibles casos de influenza en trabajadores de la UNAM para establecer una comunicación y proporcionar educación para la salud sobre medidas higiénicas. Material y métodos: Se elaboró un cuestionario, se estableció contacto con los casos por vía telefónica y se llevó a cabo una visita domiciliaria. Se llevó a cabo un análisis descriptivo de los datos y una descripción de las experiencias y percepciones durante las visitas. Resultados: Se identificó que la mayoría de los contactos eran familiares directos de los casos, que no contaban con un esquema de vacunación completo, ni contra la influenza y la frecuencia de síntomas varió de 1 hasta 4. Comentarios finales: Ante una situación de este tipo (la Pandemia del Virus de la Influenza Humana A (H1N1)) el papel de la enfermera en salud pública es de suma importancia no solo en la búsqueda de los casos y sus contactos, sino también en la orientación y educación de la población en relación a las medidas preventivas.
In the view of an infectious and contagious disease epidemic, the identification of the contacts limits its transmission. The objective of this work was to identify the contacts of the possible cases of UNAM workers in order to establish communication and provide health education about hygiene measures. Material and methods: A questionnaire was prepared, telephone contact was established with the cases, and a home visit was arranged. A descriptive analysis of the data was carried out, as well as, a description of the experiences and perception during the home visit. Results: Most identified contacts were relatives of the cases, which did not have a complete vaccine scheme, no even against influenza, and the frequency of symptoms varied between 1 a 4. Final comments: In a situation like this (A(H1N1) human influenza virus pandemic) the public health nurse roll is of great importance, not just in the identification of the cases and its contacts, but also in the orientation and education of the population in relation to preventive measures.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Influenza Humana , Prevenção Primária , Saúde PúblicaRESUMO
Lactic acid bacteria are the most adequate microorganisms for natural preservation of food. In the present work, the strain of Enterococcus faecalis CECT7121 was employed in the manufacture of craft dry-fermented sausages and its performance as a biopreservative was analysed. This strain is devoid of the genes for haemolysin and gelatinase and does not produce biogenic amines. It is sensitive to almost all the antibiotics tested and opsonophagocytic assays showed that it is devoid of a capsule. This strain had a high LD50 (10(11)CFU ml(-1)) in mice. No statistical differences were found between control and sausages inoculated with E. faecalis CECT7121 regarding the production of lactic acid, pH variation over time, reaching a minimum pH value of 5.1, and sensory analysis in both series. Sausages inoculated with E. faecalis CECT7121 had lower viable counts of Enterobacteriaceae, Staphylococcus aureus and other Gram-positive cocci at the end of fermentation and 7 days and no viable enterobacteria and S. aureus were recovered at the end of drying. E. faecalis CECT7121 did not affect the growth of Lactobacillus spp. but it displaced the autochthonous populations of enterococci. E. faecalis CECT7121 was recovered in each time point as assessed by its inhibitory activity on Listeria monocytogenes and S. aureus. These results would indicate that the addition of E. faecalis CECT7121 during the manufacture of craft dry-fermented sausages offers an interesting alternative for biopreservation.
Assuntos
Enterococcus faecalis/genética , Aditivos Alimentares , Conservantes de Alimentos , Produtos da Carne/microbiologia , Bacteriocinas/farmacologia , Aminas Biogênicas/análise , Contagem de Colônia Microbiana , Qualidade de Produtos para o Consumidor , Farmacorresistência Bacteriana/efeitos dos fármacos , Enterococcus faecalis/isolamento & purificação , Gelatinases/genética , Cocos Gram-Positivos/isolamento & purificação , Proteínas Hemolisinas/genética , Concentração de Íons de Hidrogênio , Ácido Láctico/metabolismo , Lactobacillus/isolamento & purificação , Lipase/metabolismo , Probióticos/farmacologia , Controle de Qualidade , Técnica de Amplificação ao Acaso de DNA Polimórfico , Staphylococcus aureus/isolamento & purificação , beta-Lactamases/metabolismoRESUMO
Striking conservation in various organisms suggests that cellular nucleic acid binding protein (CNBP) plays a fundamental biological role across different species. Recently, it was reported that CNBP is required for forebrain formation during chick and mouse embryogenesis. In this study, we have used the zebrafish model system to expand and contextualize the basic understanding of the molecular mechanisms of CNBP activity during vertebrate head development. We show that zebrafish cnbp is expressed in the anterior CNS in a similar fashion as has been observed in early chick and mouse embryos. Using antisense morpholino oligonucleotide knockdown assays, we show that CNBP depletion causes forebrain truncation while trunk development appears normal. A substantial reduction in cell proliferation and an increase in cell death were observed in the anterior regions of cnbp morphant embryos, mainly within the cnbp expression territory. In situ hybridization assays show that CNBP depletion does not affect CNS patterning while it does cause depletion of neural crest derivatives. Our data suggest an essential role for CNBP in mediating neural crest expansion by controlling proliferation and cell survival rather than via a cell fate switch during rostral head development. This possible role of CNBP may not only explain the craniofacial anomalies observed in zebrafish but also those reported for mice and chicken and, moreover, demonstrates that CNBP plays an essential and conserved role during vertebrate head development.
Assuntos
Proliferação de Células , Cabeça/embriologia , Crista Neural/fisiologia , Proteínas de Ligação a RNA/metabolismo , Proteínas de Peixe-Zebra/metabolismo , Peixe-Zebra/embriologia , Animais , Morte Celular/fisiologia , Sobrevivência Celular/fisiologia , Embrião não Mamífero/embriologia , Embrião não Mamífero/metabolismo , Embrião não Mamífero/fisiologia , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Hibridização In Situ , Microinjeções , Crista Neural/citologia , Oligonucleotídeos Antissenso/farmacologia , RNA Mensageiro/metabolismo , Proteínas de Ligação a RNA/genética , Peixe-Zebra/genética , Proteínas de Peixe-Zebra/genéticaRESUMO
Lymphangiosarcoma is a rare tumour in domestic animals arising from lymphatic endothelial cells. Occasionally, microscopic differentiation with haemangiosarcoma may be difficult. The aim of the present study was to describe a lymphangiosarcoma in a 1-year-old female Doberman Pinscher dog and to characterize its lectinhistochemical binding pattern as compared with that of haemangiosarcoma. The dog was presented because of a cutaneous painful swelling located in the left axilla. Histological diagnosis confirmed lymphangiosarcoma. The dog was killed. Necropsy revealed mediastinal lymph nodes' involvement. Twenty lectins were tested in tissue sections of this case as well as in four haemangiosarcomas from other dogs. Staining intensity was issued upon optical density determinations. Percentage of lectinhistochemical staining area was also conducted. RCA-I showed the most intense and wide distributed labelling pattern for lymphangiosarcoma. PHA-E was the counterpart for haemangiosarcoma. Should similar results be obtained in further studies, such differences could aid in the differential diagnosis between lymphangiosarcoma and haemangiosarcoma when histological pictures were not conclusive.
Assuntos
Doenças do Cão/patologia , Lectinas , Linfangiossarcoma/veterinária , Neoplasias Cutâneas/veterinária , Animais , Axila , Diagnóstico Diferencial , Doenças do Cão/diagnóstico , Cães , Feminino , Imuno-Histoquímica/veterinária , Linfangiossarcoma/diagnóstico , Linfangiossarcoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
A total of 73 patients with baseline CD4+ cell counts >/=350 cells/mm3 who were receiving combination antiretroviral therapy (ART) were randomized to receive subcutaneous interleukin-2 (IL-2; n=36) in addition to ART or to continue ART alone (n=37). Subcutaneous IL-2 was delivered at 1 of 3 doses (1.5 million international units ¿MIU, 4.5 MIU, and 7.5 MIU per dose) by twice-daily injection for 5 consecutive days every 8 weeks. After 24 weeks, the time-weighted mean change from baseline CD4+ cell count was 210 cells/mm3 for recipients of subcutaneous IL-2, compared with 29 cells/mm3 for recipients of ART alone (P<.001). There were no significant differences between treatment groups for measures of plasma human immunodeficiency virus RNA (P=.851). Subcutaneous IL-2 delivered at doses of 4.5 MIU and 7.5 MIU resulted in significant increases in CD4+ cell count (P=.006 and P<.001, respectively), compared with that seen in control patients. These changes were not significant in the 1.5 MIU dose group compared with that in the control patients (P=.105). Side effects that occurred from subcutaneous IL-2 administration were generally low grade, of short duration, and readily managed in an outpatient environment.
Assuntos
Fármacos Anti-HIV/uso terapêutico , Infecções por HIV/tratamento farmacológico , Interleucina-2/uso terapêutico , Adulto , Fármacos Anti-HIV/efeitos adversos , Contagem de Linfócito CD4 , Linfócitos T CD8-Positivos/imunologia , Didanosina/uso terapêutico , Relação Dose-Resposta a Droga , Esquema de Medicação , Quimioterapia Combinada , Feminino , Infecções por HIV/imunologia , Humanos , Indinavir/uso terapêutico , Injeções Subcutâneas , Interleucina-2/administração & dosagem , Interleucina-2/efeitos adversos , Lamivudina/uso terapêutico , Contagem de Linfócitos , Masculino , Nelfinavir/administração & dosagem , Nevirapina/administração & dosagem , RNA Viral/sangue , Ritonavir/administração & dosagem , Saquinavir/administração & dosagem , Estavudina/uso terapêutico , Zalcitabina/administração & dosagem , Zidovudina/administração & dosagemRESUMO
The neural retina has been widely used to study the developmental patterns of ganglioside metabolism. Recent findings about in vitro differentiating chick embryo retina cells showed that: a) GD3 and GD1a ganglioside patterns undergo the most dramatic changes; b) when the cells emit neurites, GD3 ganglioside and a group of complex gangliotetraosylgangliosides (GTOG) are transiently coexpressed; c) synchronized developmental phenomena are dissociated by anti-GM1 antibodies; d) GD3 remains as a major ganglioside in differentiated neurons, though it is almost not immunoexpressed; e) GTOG affect antibody binding to GD3; f) the content of gangliosides involved in neural differentiation modifies their immunostain localization on cell membrane; g) after exogenous GTOG uptake, immature neurons mimic GD3 immunofluorescent localization of mature cells; h) a subset of purified retinal ganglion cells express GTOG characteristic of mature neurons.
Assuntos
Diferenciação Celular , Embrião de Galinha , Gangliosídeos/genética , Expressão Gênica , Retina/citologia , Retina/embriologia , Animais , Gangliosídeos/biossíntese , Neurônios/citologia , Neurônios/metabolismo , Células Ganglionares da Retina/citologia , Células Ganglionares da Retina/metabolismoRESUMO
From 1960 to 1990, one hundred twenty eight (128) subjects with primary hyperparathyroidism were operated in the University Hospital. The medical records were reviewed. Serum and urine chemistries were done by conventional methods, serum PTH was done by RIA's (N-, C-, and midregion) and intact by IRMA and 1,25 dihydroxycholecalciferol by a non equilibrium receptor assay from calf thymus and preceded by double Sep-Pak chromatography. The distal third of the radius (nondominant arm) was used to evaluate radial bone density (RBD), using single photon absorptiometry (Norland) and the lumbar bone density (LBD) was measured by dual energy X Ray absorptiometry (DEXA). The RBD was done in 41 females and 15 males and the LBD in 12 females and 4 males. The series comprised 95 females, age range from 15 to 79 years, and 33 males, age range from 14 to 69 years. Prominent clinical features included nephrolithiasis in 72 subjects (56%), osteitis fibrosa cystica in 2, isolated familial hyperparathyroidism in 4 subjects in one family, 7 subjects with MEN-1 in 3 families, and 4 subjects with MEN-2 in one family. Only 7 subjects were asymptomatic. Serum calcium was elevated in all, serum alkaline phosphatase was elevated in 24% and urinary hydroxiproline was increased in 48%. Serum phosphorus was low in 92%. PTH assay was either elevated or inappropriately normal for the serum calcium in all patients tested. Serum 1,25 D was elevated in 57%. The PTH level was positively correlated with the serum calcium (r = 0.70), but had no significant correlation with the serum phosphorus and the 1,25 D. The RBD expressed as the standard deviation from that of the mean for age and sex matched controls was > or = 2 SD below the mean in 39% of females and in 40% of males. In contrast to the RBD none of the subjects tested had a LBD > or = 2 SD below the age and sex adjusted mean. 103 subjects had adenomas, 20 primary hyperplasia, 2 carcinomas and in 3 surgical exploration was unsuccessful. As to the outcome of Surgery, 117 (93%) were cured. Thus, in this series, successful surgery for primary hyperparathyroidism is the rule. Primary hyperparathroidism is rarely asymptomatic and appendicular bone disease and nephrolithiasis are commonly seen.
Assuntos
Adenoma/diagnóstico , Hiperparatireoidismo/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Adenoma/metabolismo , Adenoma/cirurgia , Adolescente , Adulto , Idoso , Fosfatase Alcalina/sangue , Densidade Óssea , Calcitriol/sangue , Cálcio/sangue , Diagnóstico Diferencial , Feminino , Humanos , Hidroxiprolina/urina , Hiperparatireoidismo/metabolismo , Hiperparatireoidismo/cirurgia , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/metabolismo , Neoplasias das Paratireoides/cirurgia , Fósforo/sangue , Resultado do TratamentoRESUMO
Research in the world of birth control technology advance daily. In México we now count with one of the best and most advanced contraceptive methods levonorgestrel implants. Even though it is far from being the ideal anticonceptive. It is in advantage over those known today in this country, because it does not content estrogens, it lasts up to 5 years, its reversible and it can be easily installed in a doctor's office. Some mexican doctors do not recognize yet this product or have been the victims of bad taste advertising. Learning about the method, its indications, contraindications, side effects, correct application and removal technics you can easily end the wrong ideas of it as a problematic device. The objective of the present work is to inform to the medical field of an excellent birth control alternative.
Assuntos
Anticoncepcionais Femininos , Levanogestrel , Anticoncepcionais Femininos/farmacologia , Implantes de Medicamento , Feminino , Humanos , Levanogestrel/farmacologiaRESUMO
Ganglioside expression of embryonic chick retina cells developed in vitro was analyzed by indirect immunofluorescence. Immature neurons were GD3 positive cells and the labeling was chiefly distributed all over their cell membrane. Mature neurons became GD3 negative and expressed complex gangliosides of the a- and b-pathways; nevertheless, the content of GD3 accounted for approximately 40% of the total gangliosides in these cells. Neuraminidase hydrolysis pointed out that GD3 was located in membrane of differentiated cells. The frequency of cells with the GD3 immunostain localized in restricted area of membrane of undifferentiated neurons increased significantly after adding a mixture of bovine brain gangliosides (largely complex gangliosides). Antibody binding to immobilized GD3 showed a dose-dependent inhibition by adding a mixture of bovine brain gangliosides, GM1, GD1a or asialo-GM1. Glycosphingolipids with shorter oligosaccharide chains, as cerebrosides or sulfatides, did not affect this binding. These results suggest that, concomitant with the accretion of content of complex gangliosides, a rearrangement in the membrane would occur, which progressively masks GD3 to its antibody. This rearrangement might affect putative ganglioside functions involved in neuronal differentiation.