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2.
J Immunol Methods ; 499: 113148, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34560073

RESUMO

Using a recombinant protein antigen for antibody testing shows a sum of antibody responses to multiple different immune epitopes existing in the protein antigen. In contrast, the antibody testing to an immunogenic peptide epitope reflects a singular antibody response to the individual peptide epitope. Therefore, using a panel of peptide epitopes provides an advantage for profiling multiple singular antibody responses with potential to estimate recent malaria exposure in human infections. However, transitioning from malaria immune epitope peptide-based ELISA to an all peptide bead-based multiplex Luminex assay presents some challenges including variation in the ability of different peptides to bind beads. The aim of this study was to develop a peptide coupling method while demonstrating the utility of these peptide epitopes from multiple stage antigens of Plasmodium falciparum for measuring antibodies. Successful coupling of peptide epitopes to beads followed three steps: 1) development of a peptide tag appended to the C-terminus of each peptide epitope consisting of beta-alanine-lysine (x 4)--cysteine, 2) bead modification with a high concentration of adipic acid dihydrazide, and 3) use of the peptide epitope as a blocker in place of the traditional choice, bovine serum albumin (BSA). This new method was used to couple 12 peptide epitopes from multiple stage specific antigens of P. falciparum, 1 Anopheles mosquito salivary gland peptide, and 1 Epstein-Barr virus peptide as an assay control. The new method was applied to testing of IgG in pooled samples from 30 individuals with previously repeated malaria exposure in western Kenya and IgM and IgG in samples from 37 U.S. travelers with recent exposure to malaria. The new peptide-bead coupling method and subsequent multiplex Luminex assay showed reliable detection of IgG to all 14 peptides in Kenyan samples. Among 37 samples from U.S. travelers recently diagnosed with malaria, IgM and IgG to the peptide epitopes were detected with high sensitivity and variation. Overall, the U.S. travelers had a much lower positivity rates of IgM than IgG to different peptide epitopes, ranging from a high of 62.2% positive for one epitope to a low of only 5.4% positive for another epitope. In contrast, the travelers had IgG positive rates from 97.3% to 91.9% to various peptide epitopes. Based on the different distribution in IgM and IgG positivity to overall number of peptide epitopes and to the number of pre-erythrocytic, erythrocytic, gametocytic, and salivary stage epitopes at the individual level, four distinct patterns of IgM and IgG responses among the 37 samples from US travelers were observed. Independent peptide-bead coupling and antibody level readout between two different instruments also showed comparable results. Overall, this new coupling method resolves the peptide-bead coupling challenge, is reproducible, and can be applied to any other immunogenic peptide epitopes. The resulting all peptide bead-based multiplex Luminex assay can be expanded to include other peptide epitopes of P. falciparum, different malaria species, or other diseases for surveillance, either in US travelers or endemic areas.


Assuntos
Anticorpos/análise , Ensaio de Imunoadsorção Enzimática , Epitopos/imunologia , Peptídeos/química , Plasmodium falciparum/química , Anticorpos/imunologia , Humanos , Peptídeos/síntese química , Peptídeos/imunologia , Plasmodium falciparum/imunologia
3.
Rev. chil. endocrinol. diabetes ; 11(4): 161-170, dic. 2018. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: biblio-968669

RESUMO

Type 2 Diabetes Mellitus (DM2) is considered a chronic inflammatory and systemic disease of low degree of intensity that promotes other pathologies such as cardiovascular disease, cancer and cognitive impairment. The relationship between inflammatory markers and insulin resistance in obese patients is known. Low-grade inflammation is an independent predictor of chronic diseases and mortality from all causes. Ferritin may be increased in DM2, but it is not clear if its cause is hyperglycemia or chronic inflammation. Objective: To evaluate the impact of a twenty-week program of exercise and diet on the markers of inflammation, metabolic control and the value of ferritin in a sample of obese patients with DM2, assisted in our National Health System. Materials and Methods: Open, controlled and randomized clinical trial in primary care patients. Of 161 patients with DM2 evaluated 35 fulfilled the inclusion criteria. They were divided into two homogeneous groups (control and intervention). Blood was taken from both groups to measure Ferritin along with other inflammatory and metabolic markers, before and after the exercise and diet program. These variables and the changes in serum Ferritin were analyzed. Results: At the beginning of the study Ferritin was elevated in 72.2% and 52.9% of the control and intervention group respectively. In the end, there was a significant difference between the groups, with benefit of the intervention group in the decrease of Interleukin-6, glycosylated hemoglobin, waist and body mass index. There was a non-significant decrease in C-reactive protein and Ferritin. This last one was not related to the other variables. The control group showed no significant decrease of any variable Conclusions: To apply a program of controlled exercise and diet, in the usual treatment of patients with DM2, improves inflammation and glucose homeostasis, discernible by the decrease in inflammatory parameters and by the improvement in the glycemic control. Serum ferritin was not useful to predict the metabolic control of these patients and assess the response to treatment.


Introducción: La diabetes mellitus 2 (DM2) es considerada una enfermedad inflamatoria crónica y sistémica de bajo grado de intensidad que promueve otras patologías. Es conocida la relación entre |inflamación e insulino resistencia en pacientes obesos, siendo un predictor independiente de morbimortalidad por todas las causas. Ferritina puede estar aumentada en la DM2, no es claro si su causa es la hiperglucemia o la inflamación crónica. Objetivo: Evaluar el impacto de un programa de veinte semanas de ejercicio y dieta sobre los marcadores de inflamación, control metabólico y el valor de ferritina en una muestra de pacientes con DM2 obesos. Materiales y Métodos: Ensayo clínico abierto, controlado y randomizado en pacientes del nivel primario de atención. Se evaluaron 35 pacientes con DM2 que se dividieron en dos grupos homogéneos (control e intervención). Se extrajo sangre para medir Ferritina, marcadores inflamatorios y metabólicos, antes y luego del programa de ejercicio y dieta. Analizamos los cambios de esas variables. Resultados: Ferritina estaba elevada en el 72.2% y 52.9% del grupo control e intervención respectivamente. Al final hubo una diferencia significativa entre los grupos, con beneficio del grupo intervención en el descenso de Interleucina-6, hemoglobina glicosilada, cintura e índice de masa corporal. Hubo un descenso no significativo de Ferritina y Proteína C reactiva. Ferritina no presentó relación con las demás variables. En el grupo control no hubo descenso significativo de ninguna variable. Conclusiones: Aplicar un programa de ejercicio controlado y dieta, en el tratamiento de pacientes con DM2, mejora la inflamación y la homeostasis de la glucosa, discernible por el descenso de parámetros inflamatorios y por la mejora en el control glucémico. Ferritina sérica no fue útil para predecir el control metabólico y valorar la respuesta al tratamiento.


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Exercício Físico/fisiologia , Diabetes Mellitus/terapia , Ferritinas/sangue , Proteína C-Reativa , Biomarcadores , Diabetes Mellitus Tipo 2/sangue , Dieta , Inflamação , Obesidade
4.
Steroids ; 133: 44-52, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29180290

RESUMO

This review lays out the evidence for the role of E2 in homeostatic and hedonic feeding across several species. While significant effort has been expended on homeostatic feeding research, more studies for hedonic feeding need to be conducted (i.e. are there increases in meal size and enhanced motivation to natural food rewards). By identifying the underlying neural circuitry involved, one can better delineate the mechanisms by which E2 influences feeding behavior. By utilizing more selective neural targeting techniques, such as optogenetics, significant progress can be made toward this goal. Together, behavioral and physiological techniques will help us to better understand neural deficits that can increase the risk for obesity in the absence of E2 (menopause) and aid in developing therapeutic strategies.


Assuntos
Estradiol/metabolismo , Comportamento Alimentar , Animais , Homeostase , Humanos , Rede Nervosa/metabolismo , Rede Nervosa/fisiologia , Obesidade/metabolismo , Obesidade/psicologia , Filosofia
5.
Gen Dent ; 63(1): 69-72, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25574723

RESUMO

The aim of this article was to compare the expression of p53 protein in oral lichen planus (OLP) and oral lichenoid reaction (OLR). The study population consisted of 65 patients--31 diagnosed with OLP and 34 with OLR. The results showed more p53 positive cases in the OLP group than in the OLR group. However, the difference between the 2 groups was not statistically significant (P = 0.114). The most common immunolocalization was observed at the basal cell layer. Due to the chance of potential future malignancy, follow-up for all cases is recommended.


Assuntos
Líquen Plano Bucal/metabolismo , Erupções Liquenoides/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Transformação Celular Neoplásica/metabolismo , Feminino , Humanos , Líquen Plano Bucal/patologia , Erupções Liquenoides/patologia , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/metabolismo , Mucosa Bucal/patologia
6.
Int Urol Nephrol ; 46(1): 247-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23359107

RESUMO

Secondary hyperparathyroidism (SHPT) is a serious complication in dialysis patients and is routinely managed with medical therapy. Refractory disease is usually treated either surgically or by local ethanol injection into the parathyroid glands. Total parathyroidectomy with deltoid implant can be successful; however, recurrent, resistant disease is not uncommon. Local ethanol injection was applied to the deltoid autoimplant of a patient with recurrent, resistant SHPT, which had not been resolved with surgical treatment. Serum intact parathyroid hormone (iPTH) levels subsequently decreased from 1,400 to 219 pg/dl and remained stable for the next 6 months. To our knowledge, this procedure has not been previously described in the literature. Local injection of ethanol may represent an interesting alternative to surgery for the treatment of deltoid parathyroid cell hyperplasia in patients in which surgical treatment is not an option.


Assuntos
Depressores do Sistema Nervoso Central/administração & dosagem , Etanol/administração & dosagem , Hiperparatireoidismo Secundário/tratamento farmacológico , Feminino , Humanos , Hiperparatireoidismo Secundário/cirurgia , Injeções Intralesionais , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Pessoa de Meia-Idade , Glândulas Paratireoides/transplante , Paratireoidectomia , Recidiva , Diálise Renal/efeitos adversos
7.
Rev. colomb. gastroenterol ; 28(4): 278-285, oct.-dic. 2013. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-700529

RESUMO

La hemorragia de vías digestivas altas (HVDA) es una emergencia habitual; su etiología más común es laúlcera péptica. La restauración del volumen intravascular y la presión arterial son la prioridad del manejo previo al identificar la causa del sangrado. La esofagogastroduodenoscopia (EGD) debe realizarse luego de lareanimación inicial, así como lograrse la estabilización hemodinámica, para identifi car la causa del sangradoy dar el tratamiento necesario. Se realiza un estudio sobre el evento en un hospital de referencia de tercernivel, en Cundinamarca, Colombia.Materiales y métodos: Estudio descriptivo retrospectivo; datos obtenidos de la historia clínica electrónica de pacientes adultos que consultaron por urgencias en el Hospital Universitario de la Samaritana (HUS) por HVDA, diagnosticada por hematemesis, melenas, rectorragia o anemia, y a quienes se les realizó EGDdurante el periodo abril de 2010-abril de 2011. Resultados: Se atendió a 385 pacientes a lo largo del período de estudio; se excluyó a 100 de ellos,debido a hemorragia secundaria a várices esofágicas, historia clínica incompleta y hemorragia digestivabaja, para un total de 285 pacientes analizados. Conclusiones: La mayoría de la población atendida en el Hospital Universitario de La Samaritana (HUS)por HVDA son adultos mayores de 60 años. La úlcera péptica sigue siendo el diagnóstico más común asociadoal uso de AINE y ASA. La mortalidad es comparable a la de las regencias internacionales.


Upper gastrointestinal tract bleeding is a common emergency whose most common etiology is a peptic ulcer.Restoration of intravascular volume and blood pressure management are priorities before identifyingthe cause of bleeding. After initial resuscitation and after hemodynamic stabilization has been achieved, anesophagogastroduodenoscopy (EGD) should be performed to identify the cause of bleeding and determinethe treatment needed. This is a study performed at a third level referral hospital in Cundinamarca, Colombia.Materials and Methods: This is a retrospective study of data from electronic medical records of adult patients admitted to the emergency room of the Hospital Universitario de la Samaritana (HUS) because of uppergastrointestinal tract bleeding which ahd been diagnosed because of hematemesis, melena, rectal bleedingand/or anemia. Patients all underwent EGD between April 2010 and April 2011.Results: 385 patients with upper gastrointestinal tract bleeding were seen during the study period, but 100were excluded because of bleeding secondary esophageal varices, incomplete clinical histories and lowergastrointestinal bleeding. A total of 285 patients were included. 69.1 % were older than 60 years, 73.3 % hadhypertension, 55.1 % reported use of infl ammatory drugs (NSAIDs) and aspirin (ASA), 19.6 % reported previous bleeding episodes, and 17.9 % had hemodynamic instability. 63 patients (22.1 %) required endoscopichemostasis, and 32 (11.2 %) experienced rebleeding. Overall mortality reported was 13.1 % of which 55.3 %were men. Mortality attributable to gastrointestinal bleeding was 3.1 %.Conclusions: The majority of patients served by the HUS with upper GI bleeding are adults over 60 years.Peptic ulcers remain the most common diagnosis associated with the use of NSAIDs and ASA. The mortalityrate is comparable to international standards.


Assuntos
Humanos , Masculino , Adulto , Feminino , Idoso , Endoscopia do Sistema Digestório , Hemorragia , Hemostasia , Mortalidade
8.
Rev. colomb. gastroenterol ; 28(3): 219-224, jul.-set. 2013. ilus
Artigo em Inglês, Espanhol | LILACS | ID: lil-689392

RESUMO

La disfagia es síntoma común en varias enfermedades neurológicas, en afectados por eventos cerebrovasculares o como consecuencia de traumas craneoencefálicos. Otro grupo importante que desarrolla trastornos de la deglución son aquellos adultos mayores con pérdida progresiva de las funciones cognitivas como es el caso de pacientes con demencia tipo Alzheimer, en donde la enfermedad se acompaña de complicaciones respiratorias que son potencialmente evitables, si la disfagia es reconocida precozmente y se trata adecuadamente


Dysphagia is a common symptom in many neurological diseases, particularly occurring after a stroke or head trauma. Another important group of patients who develop swallowing dysfunctions are older adults with progressive loss of cognitive functions such as patients with Alzheimer’s disease. This type of disease is accompanied by diffi culty swallowing that has been associated with increased mortality due to respiratorycomplications that are potentially preventable if dysphagia is recognized early so that appropriate strategiesfor treatment can be used


Assuntos
Humanos , Masculino , Adulto , Feminino , Doença de Alzheimer , Deglutição , Transtornos de Deglutição , Esôfago
9.
Rev. colomb. gastroenterol ; 28(1): 65-68, ene.-mar. 2013. ilus
Artigo em Espanhol | LILACS | ID: lil-678058

RESUMO

La hemorragia de vías digestivas altas por várices gástricas, aunque menos frecuente que la secundaria a lasesofágicas, es una causa de alta mortalidad en los pacientes cirróticos. La ligadura es el tratamiento óptimoen las várices esofágicas, pero este tratamiento para las gástricas es todavía muy discutido.Presentamos el caso de una anciana, con antecedente de cirrosis hepática secundaria a esteatosis hepáticano alcohólica (NASH), que ingresa, con hemorragia de vías digestivas altas, evidenciándose en laesofagogastroduodenoscopia una várice fúndica subcardial con sangrado activo, para la cual se decide manejocon ligadura con banda de caucho con resultado exitoso y desaparición de la várice en control posterior


Upper digestive tract bleeding due to gastric varices, although less common than bleeding secondary toesophageal varices, is one of the causes of high mortality in cirrhotic patients. Although band ligation is theoptimal treatment for esophageal varices, its use for gastric varices is still hotly debated.We report the case of an elderly woman with a history of hepatic cirrhosis secondary to nonalcoholicsteatohepatitis (NASH) and obesity who was admitted to the hospital with upper digestive tract bleeding.An esophagogastroduodenoscopy showed an actively bleeding subcardial varice in the gastric fundus. Thedecision was made to manage the bleeding with rubber band ligation. The outcome was successful outcome,and the varice had disappeared in subsequent check-ups


Assuntos
Idoso , Varizes Esofágicas e Gástricas , Hemorragia , Ligadura
10.
Genet Couns ; 23(2): 313-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876592

RESUMO

We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter-->p12::q21.2-->qter).ish rea(21)(qter-->pl2::q21.2-->qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the father was unavailable. The great resemblance of the patient's rearranged chromosome to the rec(21)dup(q) from a parental pericentric inversion suggests that it would be better depicted as a recombinant-like chromosome. Altogether, 13 recombinant-like chromosomes of de novo or unknown (parents not karyotyped) origin have been described. Although these rearranged chromosomes should formally be described as derivatives because no parental inversion is identified, we underlie that the unofficial term recombinant-like would be more appropriate because no "multiple aberrations within a single chromosome" (as required by the ISCN) have been proved, not to mention that the term derivative usually designates abnormal chromosomes resulting from a translocation between non homologous chromosomes. Accordingly, we prefer to identify such rearrangements of a single chromosome precisely with the more neutral and sanctioned term rea (expanding its use to designate a rearranged chromosome) coupled with the lengthy description of the abnormal chromosome. We assume that the rea(21) chromosomes result from illegitimate recombination between non allelic homologous LCRs located in both the short and long arms.


Assuntos
Duplicação Cromossômica/genética , Cromossomos Humanos Par 21/genética , Síndrome de Down/genética , Terminologia como Assunto , Criança , Aberrações Cromossômicas , Deleção Cromossômica , Inversão Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Proibitinas , Mapeamento por Restrição , Translocação Genética
11.
Neuroscience ; 208: 27-40, 2012 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-22342969

RESUMO

Dendritic spines are the basic structural units of neuronal plasticity. Intracellular signaling cascades that promote spinogenesis have centered on RhoGTPases. We found that ovarian steroids increase gene expression of RhoGTPases [Ras homolog gene family member A (RhoA), cell division control protein 42 homolog (Cdc42), and ras-related C3 botulinum toxin substrate (Rac)] in laser-captured serotonin neurons. We sought to confirm that the increases observed in gene expression translate to the protein level. In addition, a preliminary study was conducted to determine whether an increase in spines occurs via detection of the spine marker protein, postsynaptic density-95 (PSD-95). Adult ovariectomized (Ovx) monkeys were treated with estradiol (E), progesterone (P), or E+P for 1 month. Sections through the dorsal raphe nucleus were immunostained for RhoA and Cdc42 (n=3-4/group). The number and positive pixel area of RhoA-positive cells and the positive pixel area of Cdc42-positive fibers were determined. On combining E- and E+P-treated groups, there was a significant increase in the average and total cell number and positive pixel area of RhoA-positive cells. E, P, and E+P treatments, individually or combined, also increased the average and total positive pixel area of Cdc42-positive fibers. With remaining sections from two animals in each group, we conducted a preliminary examination of the regulation of PSD-95 protein expression. PSD-95, a postsynaptic scaffold protein, was examined with immunogold silver staining (n=2/group), and the total number of PSD-95-positive puncta was determined with stereology across four levels of the dorsal raphe. E, P, and E+P treatment significantly increased the total number of PSD-95-positive puncta. Together, these findings indicate that ovarian steroids act to increase gene and protein expression of two pivotal RhoGTPases involved in spinogenesis and preliminarily indicate that an increased number of spines and/or synapses result from this action. Increased spinogenesis on serotonin dendrites would facilitate excitatory glutamatergic input and in turn, increase serotonin neuronal activity throughout the brain.


Assuntos
Espinhas Dendríticas/efeitos dos fármacos , Proteínas do Tecido Nervoso/biossíntese , Ovário/fisiologia , Núcleos da Rafe/efeitos dos fármacos , Núcleos da Rafe/metabolismo , Esteroides/farmacologia , Animais , Especificidade de Anticorpos , Espinhas Dendríticas/ultraestrutura , Estradiol/farmacologia , Terapia de Reposição de Estrogênios , Feminino , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Macaca mulatta , Proteínas do Tecido Nervoso/genética , Ovariectomia , Progesterona/farmacologia , Proteína cdc42 de Ligação ao GTP/biossíntese , Proteína cdc42 de Ligação ao GTP/genética , Proteína rhoA de Ligação ao GTP/metabolismo
12.
Cells Tissues Organs ; 194(2-4): 296-301, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21597274

RESUMO

Odontogenic tumors occur within the jaw bones and may be derived from odontogenic epithelium or ectomesenchyme or contain active components of both tissue types. We investigated the gene expression profile of enamel matrix proteins (EMPs), genes related to osteogenesis, and the mineralization process in odontogenic tumor cell populations focusing on an ameloblastoma (AB-1), a keratocystic odontogenic tumor (KCOT-1), and a calcifying epithelial odontogenic tumor (CEOT-1). All cell populations were shown to be epithelial in origin by CK14 expression. All tested EMPs were expressed by all odontogenic tumor cell types, with higher transcript levels seen in the AB-1 population especially for AMEL, AMBN, and ODAM. CEOT-1 cell populations showed a greater content of ALP-positive cells as well as higher ALP mRNA levels. Using qRT-PCR, we found a higher expression of 8 genes in the CEOT-1 compared to the AB-1 and KCOT-1. In this study we demonstrated the establishment of AB-1, KCOT-1 and CEOT-1 cell populations. The unique gene expression profiles of AB-1, KCOT-1, and CEOT-1 cells and their interactions with the surrounding microenvironment may support their unique tumor development, progression, and survival.


Assuntos
Esmalte Dentário/metabolismo , Esmalte Dentário/patologia , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Tumores Odontogênicos/genética , Osteogênese/genética , Linhagem Celular Tumoral , Proliferação de Células , Forma Celular , Proteínas do Esmalte Dentário/genética , Proteínas do Esmalte Dentário/metabolismo , Humanos , Imuno-Histoquímica , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Tumores Odontogênicos/patologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
13.
Cytogenet Genome Res ; 132(4): 233-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21063078

RESUMO

We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.


Assuntos
Cromossomos Humanos Par 5/genética , Hipotireoidismo/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Craniossinostoses/genética , Síndrome de Cri-du-Chat/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Trissomia/genética
14.
Biochim Biophys Acta ; 1802(5): 443-53, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20153825

RESUMO

BACKGROUND: Complex I (CI) deficiency is the most frequent cause of OXPHOS disorders. Recent studies have shown increases in reactive oxygen species (ROS) production and mitochondrial network disturbances in patients' fibroblasts harbouring mutations in CI subunits. OBJECTIVES: The present work evaluates the impact of mutations in the NDUFA1 and NDUFV1 genes of CI on mitochondrial bioenergetics and dynamics, in fibroblasts from patients suffering isolated CI deficiency. RESULTS: Decreased oxygen consumption rate and slow growth rate were found in patients with severe CI deficiency. Mitochondrial diameter was slightly increased in patients' cells cultured in galactose or treated with 2'-deoxyglucose without evidence of mitochondrial fragmentation. Expression levels of the main proteins involved in mitochondrial dynamics, OPA1, MFN2, and DRP1, were slightly augmented in all patients' cells lines. The study of mitochondrial dynamics showed delayed recovery of the mitochondrial network after treatment with the uncoupler carbonyl cyanide m-chlorophenyl hydrazone (cccp) in patients with severe CI deficiency. Intracellular ROS levels were not increased neither in glucose nor galactose medium in patients' fibroblasts. CONCLUSION: Our main finding was that severe CI deficiency in patients harbouring mutations in the NDUFA1 and NDUFV1 genes is linked to a delayed mitochondrial network recovery after cccp treatment. However, the CI deficiency is neither associated with massive mitochondrial fragmentation nor with increased ROS levels. The different genetic backgrounds of patients with OXPHOS disorders would explain, at least partially, differences in the pathophysiological manifestations of CI deficiency.


Assuntos
Complexo I de Transporte de Elétrons/metabolismo , Metabolismo Energético , Fibroblastos/enzimologia , Mitocôndrias/metabolismo , Doenças Mitocondriais/genética , Mutação/genética , NADH Desidrogenase/genética , Acidose/genética , Acidose/metabolismo , Acidose/patologia , Trifosfato de Adenosina/metabolismo , Western Blotting , Células Cultivadas , Epilepsia/genética , Epilepsia/metabolismo , Epilepsia/patologia , Citometria de Fluxo , Imunofluorescência , Glicólise , Humanos , Lactente , Leucoencefalopatias/genética , Leucoencefalopatias/metabolismo , Leucoencefalopatias/patologia , Masculino , Mitocôndrias/efeitos dos fármacos , Doenças Mitocondriais/metabolismo , NADH Desidrogenase/metabolismo , Consumo de Oxigênio , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Pele/citologia , Pele/metabolismo
15.
Genet Couns ; 21(4): 411-22, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21290971

RESUMO

A 13-month-old boy with normal development and growth failure of prenatal onset but no other physical stigmata had a 46,XY,r(4)(p1 6.3q35).ish (4psubtel-, WHS1+, 4qsubtel+, pantel-) de novo karyotype. The analysis of 50-106 metaphases from each of four lymphocyte cultures (three of 72 h including one without colchicine and one of 96 h) revealed a dynamic mosaicism in 22-36% of cells. We did not observe a normal cell line. Hypoploidies (excluding ring losses) were observed in 2-7% of metaphases from colchicine-arrested cultures whereas tetraploidies were observed in 2-12% of metaphases from all four lymphocyte cultures. Further FISH studies were carried out on interphase nuclei from uncultured buccal cells and lymphocytes using two alphoid (CEP 1 and 9), a dual CEP X/SRY, and (in the former only) a subtel 4p probes. We scored 70-131 nuclei per assay and found apparent heteroploidies in approximately 1-47% of cells for CEP 1, CEP 9, subtel 4p, and SRY but not for CEP X. The patient's phenotype was typical of the ring syndrome and comparable to 9/37 previous r(4) cases. Moreover, all 38 patients were alive at the time of reporting and none has developed cancer. The 2-7% rate of hypodiploid cells in colchicine-arrested cultures and the approximately 1-47% rate of apparent heteroploidies in nuclei of uncultured cells evoke the in vitro and in vivo findings in patients with mosaic variegated aneuploidy (MVA). We conclude that our observation highlights the clinical and cytogenetical overlapping between the ring syndrome and the MVA syndrome; the crucial difference is the high risk of cancer related to BUB1B mutations in the latter.


Assuntos
Aneuploidia , Cromossomos Humanos Par 4 , Nanismo/genética , Retardo do Crescimento Fetal/genética , Mosaicismo , Cromossomos em Anel , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino
16.
Acta odontol. venez ; 48(3)2010. ilus
Artigo em Espanhol | LILACS | ID: lil-682907

RESUMO

El propósito del presente estudio fue evaluar el consumo de tabaco no fumado (Chimó), frecuencia, cantidad, lugar de colocación, marcas y la historia de uso en niños adolescentes venezolanos. 202 sujetos fueron evaluados, en edades comprendidas entre 4 y 73 años y de estos, 109 fueron niños y adolescentes en edades entre 4 y 17 años. Todos los participantes en la presente investigación firmaron un consentimiento informado. Cada paciente respondió un cuestionario estructurado a tal fin y los datos fueron registrados. El número de sujetos que reportó el uso de chimó fue de 15 (13,7%), la edad media fue 11,7±3,4 años y el tiempo de uso fue de 1 semana a 5 años. El sitio mas frecuente de colocación fue la cara lingual de los dientes antero-inferiores 11/15 (73,3%). El mayor porcentaje de la población estudiada se ubicó en el nivel medio bajo de acuerdo al criterio de Graffar. El uso del chimó se había reportado en adultos solamente en algunas regiones de Venezuela, sin embargo, este hábito no había sido previamente reportado en este grupo de edad por lo que constituye el primer reporte de su uso en edades pediátricas. Estudios controlados y de seguimiento se recomiendan en estas poblaciones para evaluar el efecto sobre la salud bucal y sistémica


The aim of the present study was to evaluate the use of smokeless tobacco (Chimo), frequency, and quantity, site of placement, brand and history use among children and adolescents in a Venezuelan population. A total of 202 subjects were evaluated, age ranging 4-73 years, of these 109 were children and adolescents age ranging 4-17 year old. A questionnaire was given to each patient and the data was recorded. A written consent was filled out in each case. The number of subjects reporting chimo use was 15 (13.7%), mean age was 11.7±3.4 years and the time of use ranged between a week and five years. Other habits besides chimo use included alcohol in one patient. . The most common site of placement was the lingual aspect of the lower anterior teeth 11/15 (73.3%). The higher percentage of the studied population belongs to the middle low socioeconomic group. Chimo was previously known as a form of smokeless tobacco placed of chewed among adults in several regions of Venezuela; however, this habit was not previously reported in this age group. Further studies and follow up should be performed in this population to evaluate the effect on oral and systemic health


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adolescente , Criança , Saúde Bucal , Tabaco sem Fumaça , Odontologia
17.
Acta odontol. venez ; 47(3): 122-130, sep. 2009. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-630202

RESUMO

El Síndrome de Sjógren (SS) es una exocrinopatía autoinmune crónica que afecta primariamente a las glándulas salivales y lagrimales y ocasionalmente algunos pacientes pueden presentar afección extraglandular. Entre las principales manifestaciones bucales se encuentran la xerostoma, mucositis, glositis, queilitis, candidiasis atrófica y ulceras crónicas producidas por el flujo salival disminuido. Entre otras alteraciones se incluye la enfermedad periodontal, principalmente la gingivitis. Dependiendo de la severidad de la enfermedad podemos encontrar un número elevado de caries cervicales. Se presenta por primera vez una revisión de las diferentes alternativas de tratamiento tanto local como sistémico para las manifestaciones bucales del síndrome, así como, el manejo multidisciplinario dirigido hacia el tratamiento periodontal, caries dental y protésico.


Sjogren Syndrome (SS) is a chronic autoimmune exocrinopathy that primarily affects salivary and lacrimal glands. Occasionally, could present extraglandular involvement. The most common oral findings include mucositis, glossitis, cheilitis, atrophic candidiasis and non specific chronic ulcers mainly produced by the severe decreased salivary flow rate. Other manifestations include periodontal disease mainly gingivitis and cervical caries. A current review of the different modalities of treatment of the oral manifestations both local and systemic is presented for the first time. Additionally, an updated multidisciplinary approach focused on periodontal, preventive and prosthetic is presented.

18.
Genet Couns ; 19(1): 65-9, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18564503

RESUMO

We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtel1q x 2. She presented a few typical features of the del(1q42) syndrome. Additionally, she showed occipital skin aplasia, interauricular communication, and intestinal perforation-obstruction and she died at 24 days of age. This observation illustrates the clinical variability of the syndrome as well as the occasional reduced survival. The redefinition by molecular cytogenetics of a terminal deletion as an interstitial one suggests that interstitial deletions are more common than reported by classic cytogenetics and can partially account for the phenotypic variability in some deletion syndromes.


Assuntos
Análise Citogenética , Deleção de Genes , Receptor Edar/genética , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Cariotipagem , Fenótipo , Translocação Genética/genética
19.
J Dent Res ; 86(9): 857-61, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17720855

RESUMO

Dentin responds to different alterations in the enamel with hypermineralization, and is a biomarker of fluoride exposure. We hypothesized that severe fluorosis would lead to hypermineralization of the dentin when the enamel was severely affected. We used scanning electron microscopy and quantitative electron-probe microanalysis to compare dentin and enamel from healthy and fluorotic teeth. The dentin in fluorotic teeth was characterized by a highly mineralized sclerotic pattern, in comparison with control teeth (p < 0.001) and fluorotic enamel lesions (p < 0.001). Enamel near the lesions showed hypercalcification in comparison with dentin (p < 0.001). In response to the effects of severe fluorosis in the enamel, the dentin showed hypermineralization, as found in other enamel disorders. The hypermineralization response of the dentin in our samples suggests that the mechanism of the response should be taken into account in dental caries and other dental disorders associated with severe fluorosis.


Assuntos
Dentina/patologia , Fluorose Dentária/patologia , Calcinose , Cálcio/análise , Esmalte Dentário/patologia , Esmalte Dentário/ultraestrutura , Dentina/ultraestrutura , Microanálise por Sonda Eletrônica , Humanos , Microscopia Eletrônica de Varredura , Fósforo/análise
20.
J Dairy Sci ; 89(10): 3810-6, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16960055

RESUMO

Holstein dairy heifers were randomly assigned to 1 of 2 treatments to determine whether a presynchronization strategy using GnRH would improve reproductive performance after synchronization of ovulation and timed artificial insemination (TAI). Heifers (n = 82) in the first treatment (GPG) received a hormonal protocol for synchronization of ovulation and TAI (100 microg of GnRH, d 0; 25 mg of PGF2alpha, d 6; 100 microg of GnRH + TAI, d 8); whereas heifers (n = 84) in the second treatment (GGPG) received GPG, but with the addition of a GnRH injection (100 microg) 7 d before initiation of the GPG protocol. The proportion of heifers receiving AI before d 8 was similar for GPG (4.9%) and GGPG (9.5%), and the proportion of heifers diagnosed pregnant 30 d after AI did not differ between treatments (45 vs. 51%, respectively). Treatment did not affect the proportion of heifers ovulating after the second GnRH injection or the proportion in which a corpus luteum regressed after treatment with PGF2alpha. In conclusion, presynchronization with GnRH 7 d before initiation of synchronization of ovulation using GnRH and PGF2alpha did not affect the proportion of heifers expressing estrus before TAI or improve synchronization response or fertility to the synchronization protocol.


Assuntos
Criação de Animais Domésticos/métodos , Bovinos/fisiologia , Fertilidade/efeitos dos fármacos , Hormônio Liberador de Gonadotropina/farmacologia , Ovário/efeitos dos fármacos , Animais , Corpo Lúteo/efeitos dos fármacos , Sincronização do Estro/métodos , Feminino , Hormônio Liberador de Gonadotropina/administração & dosagem , Inseminação Artificial/veterinária , Modelos Logísticos , Masculino , Ovário/diagnóstico por imagem , Gravidez , Taxa de Gravidez , Progesterona/sangue , Prostaglandinas F/administração & dosagem , Distribuição Aleatória , Comportamento Sexual Animal , Fatores de Tempo , Ultrassonografia
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