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The aim of this study was to evaluate the effects of dentin thickness and pulpal pressure simulation (PPS) on the variation of intrapulpal temperature (∆T) when submitted to an adhesive technique using laser irradiation. Sixty sound human molars were sectioned and randomly divided into two groups (n = 30): group 1-1 mm of dentin thickness; group 2-2 mm of dentin thickness. Each group was divided into two subgroups (n = 15): subgroup A-absence of PPS; subgroup P-presence of PPS (15 cm H2O), sequentially treated with the following: 37 % phosphoric acid, adhesive system (Adper Single Bond), irradiation with Nd:YAG laser (1064 nm, 10 Hz, 60 s) using 60, 80, and 100 mJ/pulse energy parameters and light-curing (10 s). The ∆T was evaluated during the laser irradiation with a digital thermometer. Data were analyzed by three-way ANOVA and Tukey tests (p < 0.05). Three-way ANOVA revealed no significant differences for dentin thickness (p = 0.6512) on ∆T. PPS significantly reduced ∆T (p = 0.0001). The laser energy parameters (p = 0.0027) indicated that 100 mJ presented with significantly greater ∆T when compared to the groups irradiated with 80 and 60 mJ. Dentin thickness did not affect ∆T. The presence of PPS reduced the mean temperature values. The Nd:YAG laser energy parameters had a negative influence on the variation of temperature in the absence of PPS. In the presence of PPS, there was no risk to the pulp, since this study obtained temperature increases below 5.5 °C for all energy parameters, showing the technical viability for in vivo conditions.
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Polpa Dentária/fisiologia , Dentina/química , Dentina/efeitos da radiação , Lasers de Estado Sólido , Pressão , Temperatura , Análise de Variância , Polpa Dentária/efeitos da radiação , HumanosRESUMO
AIM: In the USA, for both men and women, colorectal cancer (CRC) ranks third in incidence and second in mortality. Despite evidence that it decreases mortality, CRC screening in the USA remains under-utilized. Some European studies have suggested that marital status affects participation in CRC screening, but the effect of marital status on CRC screening participation in the USA is unknown. In this study, the aim was to compare CRC screening participation rates among married and unmarried couples, separated, widowed, never married and divorced adults living in the USA. METHOD: This was a retrospective data analysis of the 2010 Behavioural Risk Factor Surveillance System survey. The population studied included 239,300 participants, aged 50-75 years, who completed the 2010 survey. Logistic regression analysis was conducted to assess the association between adherence with CRC screening guidelines and marital status while accounting for survey stratum/weight and covariates. RESULTS: Individuals who were divorced or separated, never married or widowed had decreased odds of adherence with CRC screening guidelines compared with individuals who were married and unmarried couples. CONCLUSION: In this study, individuals living in the USA who were married and unmarried couples had increased odds of undergoing CRC screening compared to individuals in other marital status groups. Public health interventions are needed to promote CRC screening participation in these other groups.
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Colonoscopia/estatística & dados numéricos , Neoplasias Colorretais/diagnóstico , Detecção Precoce de Câncer/estatística & dados numéricos , Estado Civil/estatística & dados numéricos , Sangue Oculto , Cooperação do Paciente/estatística & dados numéricos , Idoso , Estudos Transversais , Divórcio/estatística & dados numéricos , Feminino , Humanos , Modelos Logísticos , Masculino , Casamento/estatística & dados numéricos , Pessoa de Meia-Idade , Razão de Chances , Estudos Retrospectivos , Estados Unidos , Viuvez/estatística & dados numéricosRESUMO
Vitamin A toxicity is a well-described medical condition with a multitude of potential presenting signs and symptoms. It can be divided into acute and chronic toxicity. Serum vitamin A concentrations are raised in chronic renal failure even with ingestion of less than the usual toxic doses. Hypercalcaemia can occasionally be associated with high levels of vitamin A but it is rare. In this report, we describe a 67- year old female patient with chronic kidney disease who was taking vitamin A supplements for approximately 10 years. The patient had worsening of her chronic kidney disease over the last years and developed chronic hypercalcaemia. Her vitamin A level was elevated with a daily intake of 7000 IU. The vitamin A supplement was stopped. A few months later, vitamin A level diminished substantially and serum calcium levels returned to normal.
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OBJECTIVE: To evaluate the effects of a prophylactic transfusion program (TP) on obstetric and perinatal outcomes in pregnant women with sickle cell disease (SCD). METHODS: This retrospective cohort study included all singleton pregnancies among women with SCD in a French university tertiary care center between 1 January 2004 and 31 December 2017. The TP group included patients selected according to the French guidelines who received regular red blood cell transfusions during pregnancy until delivery. The factors associated with TP indication [year of birth, SCD genotype, history of acute chest syndrome and delayed hemolysis transfusion reaction (DHTR) risk score] were taken into account in a propensity score. A composite obstetric adverse outcome was defined associating birth before 34 gestational weeks and/or pre-eclampsia and/or small for gestational age and/or abruption and/or stillbirth and/or maternal death and/or neonatal death. RESULTS: In total, 246 pregnancies in 173 patients were analyzed. Twenty-two pregnancies with a history of DHTR were excluded. A higher frequency of TP was found before 2013 [119/148 (80.4%) vs 38/76 (50%); p < 0.001]. Rates of preterm birth before 34 gestational weeks (5.6% vs 19.7%; p = 0.001), vaso-occlusive crisis (36.5% vs. 61.8%; p < 0.001), and acute chest syndrome (6.1% vs. 14.5%; p = 0.04) during pregnancy were decreased significantly in the TP group. Among the groups with and without composite obstetric adverse outcomes, the frequency of TP was 52.6% and 74.7%, respectively [odds ratio (OR) 0.30, 95% confidence interval (CI) 0.09-1.02]. The multivariate analysis shows that the TP was associated with a significant reduction in the risk of composite obstetric adverse outcomes (OR 0.28, 95% CI 0.08-0.97; p = 0.04). CONCLUSION: A red blood cell TP may have an independent protective effect on maternal and perinatal adverse outcomes during pregnancy in women with SCD.
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Síndrome Torácica Aguda , Anemia Falciforme , Nascimento Prematuro , Feminino , Recém-Nascido , Gravidez , Humanos , Gestantes , Síndrome Torácica Aguda/complicações , Estudos Retrospectivos , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Natimorto/epidemiologia , Resultado da GravidezRESUMO
The BH3-like motif-containing inducer of cell death (BLID) is an intronless gene localized on 11q24.1. Loss of that region has frequently been reported in early-onset breast cancer and is significantly associated with poor prognosis and reduced survival. Downregulation of BLID is associated with younger age, triple-negative phenotype, and reduced disease-free and overall survival of breast cancer patients. In this study, we investigated allelic loss of BLID in breast tumor specimens from 78 women with invasive breast cancer using 2 dinucleotide polymorphic markers closely linked to the BLID gene (no intragenic marker for BLID is available). Seventy-three cases were informative. Overall, loss of heterozygosity (LOH) at the BLID locus was detected in 32% of the informative cases (23/73). However, in patients 40 years old and younger, LOH was detected in 50% of the cases (9/18). Patients aged 40 years and younger were significantly more likely to experience LOH than those aged 41-55 years (p = 0.04). Specifically, the odds of BLID loss for patients aged 40 years and younger were 3.7 times the odds of loss for patients aged 41-55 years (95% CI, 1.1-13). Our findings suggest a tumor suppressor role of the BLID gene in early-onset breast cancer.
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Proteínas Reguladoras de Apoptose , Biomarcadores Tumorais/análise , Neoplasias da Mama , Mapeamento Cromossômico/métodos , Citogenética/métodos , DNA de Neoplasias/análise , Adulto , Fatores Etários , Idade de Início , Idoso , Alelos , Proteínas Reguladoras de Apoptose/deficiência , Proteínas Reguladoras de Apoptose/genética , Biomarcadores Tumorais/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Primers do DNA/química , Primers do DNA/genética , Sondas de DNA/química , Sondas de DNA/genética , DNA de Neoplasias/genética , Feminino , Humanos , Perda de Heterozigosidade , Pessoa de Meia-Idade , Invasividade Neoplásica , Razão de Chances , Prognóstico , Software , Taxa de SobrevidaRESUMO
OBJECTIVE: Antenatal screening of small fetuses for gestational age (SGA) is a public health challenge. The aim of this study is to assess the obstetrical management and the immediate neonatal outcomes, according to the antenatal screening of the SGA fetuses. METHODS: We performed a retrospective study in a French tertiary care hospital between January 1, 2016 and December 31, 2018. Women were eligible if they had a monofetal pregnancy with a fetus in head presentation and a trial of labor after 37 weeks. A fetus was considered SGA when the estimated fetal weight was less than the 10th percentile at the third trimester ultrasound. A newborn was considered hypotrophic when the birthweight was less than the 10th percentile. RESULTS: 8 153 newborns were included and 948 of the newborns were hypotrophic (308 were suspected for SGA, 640 were not suspected for SGA) and 7205 were eutrophic. Among the hypotrophic neonates, we observed no significant difference regarding the immediate neonatal outcomes between the two groups of fetuses suspected and not suspected for SGA. Among the fetuses not suspected for SGA, the rate of arterial umbilical cord pH below 7.10 was significantly higher in the hypotrophic newborns compared to the non hypotrophic newborns (4.7% vs 3.1%, p = 0.041). CONCLUSION: In our population, unsuspected fetal hypotrophy may be associated with an increased risk of neonatal acidosis. These results emphasize the benefit of improving prenatal screening to identify the SGA fetuses.
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Retardo do Crescimento Fetal/diagnóstico , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Diagnóstico Pré-Natal/métodos , Feminino , França/epidemiologia , Idade Gestacional , Humanos , Recém-Nascido , Trabalho de Parto/fisiologia , Gravidez , Resultado da Gravidez/epidemiologia , Terceiro Trimestre da Gravidez/fisiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Centros de Atenção Terciária/organização & administração , Centros de Atenção Terciária/estatística & dados numéricos , Prova de Trabalho de Parto , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricosRESUMO
BACKGROUND: The COVID-19 pandemic has had a major impact on healthcare in many countries. This study assessed the effect of a nationwide lockdown in France on admissions for acute surgical conditions and the subsequent impact on postoperative mortality. METHODS: This was an observational analytical study, evaluating data from a national discharge database that collected all discharge reports from any hospital in France. All adult patients admitted through the emergency department and requiring a surgical treatment between 17 March and 11 May 2020, and the equivalent period in 2019 were included. The primary outcome was the change in number of hospital admissions for acute surgical conditions. Mortality was assessed in the matched population, and stratified by region. RESULTS: During the lockdown period, 57 589 consecutive patients were admitted for acute surgical conditions, representing a decrease of 20.9 per cent compared with the 2019 cohort. Significant differences between regions were observed: the decrease was 15.6, 17.2, and 26.8 per cent for low-, intermediate- and high-prevalence regions respectively. The mortality rate was 1.92 per cent during the lockdown period and 1.81 per cent in 2019. In high-prevalence zones, mortality was significantly increased (odds ratio 1.22, 95 per cent c.i. 1.06 to 1.40). CONCLUSION: A marked decrease in hospital admissions for surgical emergencies was observed during the lockdown period, with increased mortality in regions with a higher prevalence of COVID-19 infection. Health authorities should use these findings to preserve quality of care and deliver appropriate messages to the population.
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COVID-19/prevenção & controle , Admissão do Paciente/estatística & dados numéricos , Procedimentos Cirúrgicos Operatórios/estatística & dados numéricos , Doença Aguda , Adulto , Idoso , COVID-19/epidemiologia , Doenças do Sistema Digestório/cirurgia , Emergências , Feminino , França/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Admissão do Paciente/tendências , SARS-CoV-2 , Procedimentos Cirúrgicos Operatórios/mortalidade , Cálculos Urinários/cirurgia , Ferimentos e Lesões/cirurgiaRESUMO
Chronic hypertension affects 1-5% of women of childbearing age. During pregnancy, chronic hypertension is associated with an increased risk of vascular disease such as superimposed preeclampsia (PE), intrauterine growth retardation (IUGR), placental abruption, and preterm delivery. These serious and frequent pathologies, specific to pregnancy, carry a particularly high risk of maternal complications (HELLP syndrome, eclampsia, maternal death) and perinatal complications (perinatal death, neurological disorders). To date, there is no curative treatment of vascular complications of chronic hypertension during pregnancy. The only effective treatment, once the complications are established, is usually stopping the pregnancy and delivering the placenta. Some recommendations suggest the use of low dose aspirin in the prevention of these complications. Although the efficacy of low-dose aspirin is assumed in patients with previous preeclampsia, few studies have evaluated its efficacy in patients with chronic hypertension. Controlled prospective studies using very low doses of aspirin (less than 100 mg) and started after 15 weeks of gestation do not seem conclusive. The objective of this work is first to detail the complications of chronic hypertension during pregnancy, then to analyze the studies which evaluated the interest of low dose aspirin in prevention of the placental vascular complications of the pregnancy in patients with chronic hypertension. We also propose an update on the European and North American national recommendations for the prevention of preeclampsia by low dose aspirin in the high-risk population of patients with chronic hypertension. Finally we present the CHASAP (Chronic Hypertension and Acetyl Salicylic Acid in Pregnancy) trial (NCT04356326), a multicentric prospective randomized double-blind superiority trial, which will compare, in pregnant women with chronic hypertension, the efficacy of low dose aspirin (150 mg/day) with a placebo, in the prevention of maternal-fetal morbidity and mortality (preeclampsia, placental abruption, IUGR, perinatal death, maternal death, and preterm delivery).
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Aspirina/administração & dosagem , Hipertensão/complicações , Pré-Eclâmpsia/prevenção & controle , Complicações Cardiovasculares na Gravidez/tratamento farmacológico , Aspirina/efeitos adversos , Feminino , França/epidemiologia , Humanos , Hipertensão/epidemiologia , Placenta , Pré-Eclâmpsia/epidemiologia , Gravidez , Complicações Cardiovasculares na Gravidez/epidemiologia , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Fatores de RiscoRESUMO
The treatment of scapholunate advanced collapse (SLAC) and scaphoid nonunion advanced collapse (SNAC) wrist varies. No clear consensus exists on surgical indications. Scaphoid excision and four-corner arthrodesis with locking plate is one of preferred treatments for these lesions. The purpose of this study was to assess the clinical and radiological outcomes of locking plates for treating SNAC and SLAC wrist after a mean follow-up of 5 years and to compare these outcomes with the results reported in the literature. A retrospective study was conducted in two hospitals, involving 40 patients who underwent scaphoid excision and four-corner arthrodesis with locking plate between January 2006 and September 2016. All patients were reviewed as outpatients with clinical and radiographic measurements. At the last follow-up, the mean pain level on visual analog scale (VAS) was 2.5/10 [0-7] (SD: 1.7). Patients had a mean flexion of 46% and a mean extension of 46% compared to the contralateral side. An 18% gain was observed in grip strength. The mean postoperative QuickDASH score was 30 [0-57] (SD: 15.3). Seventy percent of patients were satisfied with the operation. Complete (all four joint interfaces) joint space fusion was achieved in 55% of patients. Only one patient (2.5%) had no joint fusion. The joint between the lunate and the capitate was fused in 38 patients (95%). Nine patients suffered complications; eight of them required surgical revision (20%). Four-corner arthrodesis with locking plate is a valuable surgical technique for treating SLAC and SNAC wrist because it preserve satisfactory range of motion and grip strength (64% compared to the non-operated side), maintains the height of the carpus and prevents the premature appearance of radiocarpal osteoarthritis, as long as the technical challenges of this procedure are mastered.
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Artrodese/métodos , Placas Ósseas , Articulação do Punho/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Artrodese/instrumentação , Avaliação da Deficiência , Feminino , Seguimentos , Força da Mão/fisiologia , Humanos , Ílio/transplante , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Radiografia , Rádio (Anatomia)/transplante , Estudos Retrospectivos , Osso Escafoide/cirurgia , Osso Escafoide/transplante , Escala Visual Analógica , Articulação do Punho/diagnóstico por imagem , Articulação do Punho/fisiopatologiaRESUMO
INTRODUCTION: Patients with Mayer - Rokitansky - Küster - Hauser (MRKH) syndrome often experience chronic pelvic pain negatively impacting their life's quality. Our understanding of the factors involved in this symptom remains poor. The aim of our study was to further investigate the different components of this pelvic pain in patients with MRKH undergoing pelvic surgery. Our second objective was to assess the evolution of this pain in patients undergoing surgical removal of their uterine horn remnant. MATERIAL AND METHODS: We conducted a retrospective analysis of a cohort of patients treated in our tertiary referring gynaecological department. Patients included had a MRKH syndrome with at least one uterine horn remnant and all underwent at least one surgical procedure in our centre. Descriptive analysis of the main characteristics and of the management of these patients was conducted. Postoperative pain was evaluated using simple words and / or analgesic consumption evaluation. RESULTS: Between 1991 and 2013, twenty-one patients were included in our centre. Out of them, 20 (95 %) had chronic pelvic pain, mostly cyclic pain lasting 2-3 days. Fourteen patients had surgical removal of their uterine horns remnant and only 3 patients (21 %) had persistent pain at their postoperative visit. Surgical findings included peritoneal endometriosis in 8 patients (38 %) and other unexpected findings in 6. At pathological analysis, secretary endometrium in the uterine horn remnant was found in 11 patients (79 %). CONCLUSION: The origin of chronic pain in MRKH is combining several factors such as endometriosis or secretary endometrium. Surgical removal of uterine horn remnant improved most of our patients' pelvic chronic pain. Further studies should help improve our understanding of this specific entity.
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Transtornos 46, XX do Desenvolvimento Sexual/complicações , Dor Crônica/diagnóstico , Dor Crônica/etiologia , Ductos Paramesonéfricos/anormalidades , Dor Pélvica/diagnóstico , Dor Pélvica/etiologia , Útero/anormalidades , Útero/cirurgia , Adolescente , Anormalidades Congênitas , Feminino , Procedimentos Cirúrgicos em Ginecologia , Ginecologia , Humanos , Período Pós-Operatório , Estudos Retrospectivos , Centros de Atenção Terciária , Adulto JovemRESUMO
BACKGROUND: To evaluate fertility and pregnancy outcomes in patients with uterus bicorporeal and blind hemivagina. Our second objective was to investigate factors predicting fertility and pregnancy outcomes in those patients. MATERIAL AND METHODS: We conducted a retrospective analysis in a tertiary referring gynaecological department, in France. We included all patients with uterus bicorporeal and blind hemivagina who underwent at least one surgery in our centre. Initial characteristics of the patients included were extracted from their medical charts and patients were contacted to assess their fertility and pregnancies outcomes upon their consent to participate to the study. RESULTS: Between 1989 and 2010, 79 patients fulfilled inclusion criteria and were selected for analysis. Mean follow up of those patients was of 16.15 (QI 10-21) years. Forty-six patients (58.2%) returned the survey and among them, 21 (45.7%) were fertile, 8 (17.4%) were infertile and 17 (37%) never attempted to get pregnant following initial management. Forty-nine pregnancies were included to assess pregnancies outcomes: 11 (22.5%) early miscarriages, 1 (2.0%) extra-uterine pregnancy, 2 (4.1%) second semester miscarriages and 35 (71.4%) leaded to living birth. Nineteen (54.3%) deliveries occurred by caesarean section and 14 (40.0%) by vaginal delivery. Fifteen pregnancies (42.9%) were complicated. In univariate analysis, adhesiolysis performed at the time of initial surgery was the only factor associated with infertility (p=0.004). CONCLUSIONS: Fertility seems to be perfectly conserved in those patients and they do not have increased rate of adverse pregnancies outcomes.
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Anormalidades Múltiplas/cirurgia , Fertilidade , Resultado da Gravidez , Útero/anormalidades , Útero/cirurgia , Vagina/anormalidades , Vagina/cirurgia , Feminino , Procedimentos Cirúrgicos em Ginecologia , Ginecologia , Humanos , Gravidez , Estudos Retrospectivos , Centros de Atenção Terciária , Fatores de TempoRESUMO
Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.
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Transportadores de Cassetes de Ligação de ATP , Hiperinsulinismo/genética , Hipoglicemia/genética , Pancreatopatias/genética , Canais de Potássio Corretores do Fluxo de Internalização , Canais de Potássio/genética , Receptores de Droga/genética , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 11 , Análise Mutacional de DNA , DNA Complementar/genética , Genótipo , Humanos , Lactente , Insulina/metabolismo , Secreção de Insulina , Dados de Sequência Molecular , Mutação , Fenótipo , Mutação Puntual , Canais de Potássio/química , Splicing de RNA , Receptores de Droga/química , Compostos de Sulfonilureia/metabolismo , Receptores de SulfonilureiasRESUMO
The sentinel lymph node (SLN) is considered to be the first axillary node that contains malignant cells in metastatic breast tumors, and its positivity is currently used in clinical practice as an indication for axillary lymph node dissection. Therefore, accurate evaluation of the SLN for the presence of breast metastatic cells is essential. The main aim of our study is to characterize the genomic changes present in the SLN metastatic samples with the ultimate goal of improving the predictive value of SLN evaluation. Twenty paired samples of SLN metastases and their corresponding primary breast tumors (PBT) were investigated for DNA copy number changes using comparative genomic hybridization (CGH). Non-random DNA copy number changes were observed in all the lesions analyzed, with gains being more common than losses. In 75% of the cases there was at least one change common to both PBT and SLN. The most frequent changes detected in both lesions were gains of 1pter-->p32, 16, 17, 19, and 20 and losses of 6q13-->q23 and 13q13-->q32. In the PBT group, alterations on chromosomes 1, 16, and 20 were the most frequent, whereas chromosomes 1, 6, and 19 were the ones with the highest number of changes in the SLN metastatic group. A positive correlation was found between the DNA copy number changes per chromosome in each of the groups. Our findings indicate the presence of significant DNA copy number changes in the SLN metastatic lesions that could be used in the future as additional markers to improve the predictive value of SLN biopsy procedure.
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Neoplasias da Mama/genética , DNA de Neoplasias/genética , Metástase Linfática/genética , Adulto , Idoso , Neoplasias da Mama/secundário , Mapeamento Cromossômico , DNA de Neoplasias/análise , Feminino , Dosagem de Genes , Humanos , Cariotipagem , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Biópsia de Linfonodo SentinelaRESUMO
Previously we found that the availability of ShcA adapter is maximal in neural stem cells but that it is absent in mature neurons. Here we report that ShcC, unlike ShcA, is not present in neural stem/progenitor cells, but is expressed after cessation of their division and becomes selectively enriched in mature neurons. Analyses of its activity in differentiating neural stem/progenitor cells revealed that ShcC positively affects their viability and neuronal maturation via recruitment of the PI3K-Akt-Bad pathway and persistent activation of the MAPK pathway. We suggest that the switch from ShcA to ShcC modifies the responsiveness of neural stem/progenitor cells to extracellular stimuli, generating proliferation (with ShcA) or survival/differentiation (with ShcC).
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Proteínas Adaptadoras de Transdução de Sinal , Diferenciação Celular/fisiologia , Proteínas do Tecido Nervoso/fisiologia , Neurônios/fisiologia , Células-Tronco/fisiologia , Proteínas de Transporte/metabolismo , Morte Celular , Sobrevivência Celular , Células Cultivadas , Clonagem Molecular , Fator de Crescimento Epidérmico/farmacologia , Feto , Proteínas de Fluorescência Verde , Proteínas Luminescentes/análise , Proteínas Luminescentes/genética , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Fator de Crescimento Neural/farmacologia , Proteínas do Tecido Nervoso/genética , Neurônios/citologia , Neurônios/efeitos dos fármacos , Fosfatidilinositol 3-Quinases/metabolismo , Fosforilação , Proteínas/fisiologia , Proteínas Recombinantes de Fusão/metabolismo , Proteínas Adaptadoras da Sinalização Shc , Células-Tronco/citologia , Telencéfalo/citologia , Telencéfalo/embriologia , Transfecção , Proteína de Morte Celular Associada a bcl , Domínios de Homologia de srcRESUMO
OBJECTIVE: Since July 2006, it has been recommended to give a booster of a pertussis vaccine to women just after delivery, if they have received their last dose more than 10 years before. The aim of this study was to evaluate the pertussis vaccine coverage in a cohort of women just after delivery. PATIENTS AND METHODS: All patients (n=31) hospitalized in postpartum unit on the 15th September 2006 were included in the study. They were submitted a questionnaire and medical records available in the department were reviewed. RESULTS: The vaccination coverage was not indicated in any medical records. Only six patients claimed they knew their pertussis vaccination status (less than five years: two patients, between five and 10 years: two patients, more than 10 years: two patients). Two patients had their vaccination booklet. The pertussis vaccine coverage is probably very low. DISCUSSION AND CONCLUSION: The information about pertussis vaccine status in postpartum women is not available currently because it is not recorded by medical team and is unknown by patients themselves. An effort in educating obstetricians and corrective actions are necessary if we want the recent vaccine schedule to be followed.
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Vacina contra Coqueluche/administração & dosagem , Vacinação/estatística & dados numéricos , Coqueluche/prevenção & controle , Adulto , Estudos de Coortes , Feminino , Humanos , Esquemas de Imunização , Imunização Secundária , Período Pós-Parto , Inquéritos e Questionários , Fatores de TempoRESUMO
Glioblastoma (GBM) is an aggressive and incurable tumor of the brain with limited treatment options. Current first-line standard of care is the DNA alkylating agent temozolomide (TMZ), but this treatment strategy adds only ~4 months to median survival due to the rapid development of resistance. While some mechanisms of TMZ resistance have been identified, they are not fully understood. There are few effective strategies to manage therapy resistant GBM, and we lack diverse preclinical models of acquired TMZ resistance in which to test therapeutic strategies on TMZ resistant GBM. In this study, we create and characterize two new GBM cell lines resistant to TMZ in vitro, based on the 8MGBA and 42MGBA cell lines. Analysis of the TMZ resistant (TMZres) variants in conjunction with their parental, sensitive cell lines shows that acquisition of TMZ resistance is accompanied by broad phenotypic changes, including increased proliferation, migration, chromosomal aberrations, and secretion of cytosolic lipids. Importantly, each TMZ resistant model captures a different facet of the "go" (8MGBA-TMZres) or "grow" (42MGBA-TMZres) hypothesis of GBM behavior. These in vitro model systems will be important additions to the available tools for investigators seeking to define molecular mechanisms of acquired TMZ resistance.
Assuntos
Citoesqueleto de Actina/efeitos dos fármacos , Antineoplásicos Alquilantes/farmacologia , Proliferação de Células/efeitos dos fármacos , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Regulação Neoplásica da Expressão Gênica , Temozolomida/farmacologia , Citoesqueleto de Actina/metabolismo , Citoesqueleto de Actina/ultraestrutura , Apoptose/efeitos dos fármacos , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Carmustina/farmacologia , Ciclo Celular/efeitos dos fármacos , Ciclo Celular/genética , Linhagem Celular Tumoral , Movimento Celular/efeitos dos fármacos , Tamanho Celular , Duplicação Cromossômica , Metilases de Modificação do DNA/genética , Metilases de Modificação do DNA/metabolismo , Enzimas Reparadoras do DNA/genética , Enzimas Reparadoras do DNA/metabolismo , Resistencia a Medicamentos Antineoplásicos/genética , Glioblastoma/tratamento farmacológico , Glioblastoma/genética , Glioblastoma/metabolismo , Glioblastoma/patologia , Humanos , Redes e Vias Metabólicas/efeitos dos fármacos , Redes e Vias Metabólicas/genética , Metaboloma/efeitos dos fármacos , Modelos Biológicos , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismoRESUMO
Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain. At birth, nearly 50% of children with HPE have cytogenetic anomalies. Approximately 20% of infants with normal chromosomes have sequence mutations in one of the four main HPE genes (SHH, ZIC2, SIX3, and TGIF). The other non-syndromic forms of HPE may be due to environmental factors or mutations in other genes, or potentially due to submicroscopic deletions of HPE genes. We used two complementary assays to test for HPE associated submicroscopic deletions. Firstly, we developed a multicolour fluorescent in situ hybridisation (FISH) assay using probes for the four major HPE genes and for two candidate genes (DISP1 and FOXA2). We analysed lymphoblastoid cell lines (LCL) from 103 patients who had CNS findings of HPE, normal karyotypes, and no point mutations, and found seven microdeletions. We subsequently applied quantitative PCR to 424 HPE DNA samples, including the 103 samples studied by FISH: 339 with CNS findings of HPE, and 85 with normal CNS and characteristic HPE facial findings. Microdeletions for either SHH, ZIC2, SIX3, or TGIF were found in 16 of the 339 severe HPE cases (that is, with CNS findings; 4.7%). In contrast, no microdeletion was found in the 85 patients at the mildest end of the HPE spectrum. Based on our data, microdeletion testing should be considered as part of an evaluation of holoprosencephaly, especially in severe HPE cases.
Assuntos
Holoprosencefalia/genética , Hibridização in Situ Fluorescente/métodos , Deleção de Sequência , Sequência de Bases , Linhagem Celular , Proteínas do Olho/genética , Testes Genéticos , Proteínas Hedgehog , Fator 3-beta Nuclear de Hepatócito/genética , Holoprosencefalia/diagnóstico , Proteínas de Homeodomínio/genética , Humanos , Cariotipagem , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares , Reação em Cadeia da Polimerase , Proteínas Repressoras/genética , Transativadores/genética , Fatores de Transcrição/genética , Proteína Homeobox SIX3RESUMO
A supernumerary ring chromosome was found on amniocentesis performed for advanced maternal age. A review of the literature found 34 reports of supernumerary ring chromosome I which are compared to our case.
Assuntos
Amniocentese , Aberrações Cromossômicas , Cromossomos Humanos Par 1/genética , Marcadores Genéticos/genética , Cromossomos em Anel , Aborto Eugênico , Adulto , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Idade Materna , GravidezRESUMO
OBJECTIVE: Maternal and fetal risk is often high during pregnancy in sickle cell disease. Our objective was to evaluate the benefits of a transfusion program adapted to each pregnant patient, either by red cell transfusion or by automated red cell exchange, in sickle cell patients with a history of serious obstetrical and/or sickling complications. STUDY DESIGN: We managed 18 pregnancies in 14 patients (12 SS, 1 SC, 1 S/b-thalassemia), seven of whom had a history of one or more pregnancies, with severe maternofetal complications in nine out of 10 cases. The other seven patients were pregnant for the first time and were in care because of a history of severe sickling complications. The aim was to achieve a proportion of abnormal hemoglobin (hemoglobin S or S+C) below 50% and a hemoglobin level between 9 and 11 g/dL. The choice between transfusion and red cell exchange was made in the light of the hemoglobin level. Red cell exchange was done using a Fresenius Com. Tec blood cell separator. Patients had red cell exchange in 10 cases, and transfusions in five cases. In three cases, patients had successive transfusions and red cell exchange. RESULTS: No serious maternal complication was observed. No fetal or perinatal death occurred. In one case, delivery was induced at 36 weeks of gestation because of fetal distress and hypotrophy. CONCLUSIONS: Our study suggests that women with severe sickle cell disease, even if they have a serious obstetrical history, can carry their pregnancy to term, without major obstetric complications, through a combination of early management by a multidisciplinary team and a suitable policy of prophylactic transfusion or automated red cell exchange.
Assuntos
Anemia Falciforme/terapia , Transfusão de Eritrócitos , Transfusão Total , Complicações Hematológicas na Gravidez/terapia , Adulto , Automação , Feminino , Hemoglobina Falciforme/análise , Humanos , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Resultado do TratamentoRESUMO
The vulvar intraepithelial neoplasia has been identified as one of the 12 neoplasias whose incidence increases in the developed countries. The vulvar intraepithelial neoplasia (VIN) and invasive vulvar cancer incidence increases by 2.4% per annum; and this principally in young women. The VIN account for 57% of the vulvar neoplasias and are actually more frequent than invasive carcinomas. In the United States, between 1973 and 2000, the incidence of the VIN increased by 411% against 20% for invasive cancers. Similar figures were reported from Norwegian registers. The VIN have a different age distribution than invasive cancers: the incidence of the VIN increases until the age of 40-49 years then decreases while the incidence of invasive cancers increases after 50 years without real peak of incidence. The increase in the incidence of VIN could be followed by an increase in the incidence of invasive cancers but the unknowns on the natural history of the VIN and the impact of the treatments make any extrapolation hazardous. The association between the VIN and the human papillomavirus (HPV) has been well established. It should be noted that, contrary to the cervical neoplasia that are related for nearly 100% to the HPV, only 30-40% of invasive cancers of the vulva are related to HPV, while the other carcinomas are related to the evolution of a vulvar lichen sclerous. The HPV induce various types of anogenital lesion according to their genotype. These lesions can be benign for the HPV6 and 11 and preneoplastic or neoplastic for the HPV16 and 18. The presence of HPV16 and 18 is found in 70 to 80% of the VIN suggesting that HPV vaccines could decrease the incidence VIN and HPV related invasive vulvar cancer.