RESUMO
The importance of poly-unsaturated fatty acids (PUFAs) in food is crucial for the animal and human development and health. As a complementary strategy to nutrition approaches, genetic selection has been suggested to improve fatty acids (FAs) composition in farmed fish. Gas chromatography (GC) is used as a reference method for the quantification of FAs; nevertheless, the high cost prevents large scale phenotyping as needed in breeding programs. Therefore, a calibration by means of Raman scattering spectrometry has been established in order to predict FA composition of visceral adipose tissue in rainbow trout Onchorhynchus mykiss. FA composition was analyzed by both GC and Raman micro-spectrometry techniques on 268 individuals fed with three different feeds, which have different FA compositions. Among the possible regression methods, the ridge regression method, was found to be efficient to establish calibration models from the GC and spectral data. The best cross-validated R2 values were obtained for total PUFAs, omega-6 (Ω-6) and omega-3 (Ω-3) PUFA (0.79, 0.83 and 0.66, respectively). For individual Ω-3 PUFAs, α-linolenic acid (ALA, C18:3), eicosapentaenoic acid (EPA, C20:5) and docosahexenoic acid (DHA, C22:6) were found to have the best R2 values (0.82, 0.76 and 0.81, respectively). This study demonstrates that Raman spectroscopy could be used to predict PUFAs with good correlation coefficients on adipocytes, for future on adipocytes physiology or for large scale and high throughput phenotyping in rainbow trout.
Assuntos
Oncorhynchus mykiss , Animais , Ácidos Docosa-Hexaenoicos , Ácidos Graxos , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Análise Espectral RamanRESUMO
Identification of signaling molecules that regulate cell migration is important for understanding fundamental processes in development and the origin of various pathological conditions. The migration of Nara Bladder Tumor II (NBT-II) cells was used to determine which signaling molecules are specifically involved in the collagen-mediated locomotion. We show here that paxillin is tyrosine phosphorylated after induction of motility on collagen. Overexpression of paxillin mutants in which tyrosine 31 and/or tyrosine 118 were replaced by phenylalanine effectively impaired cell motility. Moreover, stimulation of motility by collagen preferentially enhanced the association of paxillin with the SH2 domain of the adaptor protein CrkII. Mutations in both tyrosine 31 and 118 diminished the phosphotyrosine content of paxillin and prevented the formation of the paxillin-Crk complex, suggesting that this association is necessary for collagen-mediated NBT-II cell migration. Other responses to collagen, such as cell adhesion and spreading, were not affected by these mutations. Overexpression of wild-type paxillin or Crk could bypass the migration-deficient phenotype. Both the SH2 and the SH3 domains of CrkII are shown to play a critical role in this collagen-mediated migration. These results demonstrate the important role of the paxillin-Crk complex in the collagen-induced cell motility.
Assuntos
Moléculas de Adesão Celular/metabolismo , Movimento Celular/genética , Proteínas do Citoesqueleto/metabolismo , Fosfoproteínas/metabolismo , Proteínas Proto-Oncogênicas , Tirosina/metabolismo , Neoplasias da Bexiga Urinária/metabolismo , Substituição de Aminoácidos , Animais , Sítios de Ligação/genética , Adesão Celular , Células Clonais , Colágeno/metabolismo , Colágeno/farmacologia , Proteínas do Citoesqueleto/genética , Quinase 1 de Adesão Focal , Proteína-Tirosina Quinases de Adesão Focal , Mutagênese Sítio-Dirigida , Paxilina , Fosfoproteínas/genética , Fosforilação/efeitos dos fármacos , Ligação Proteica/genética , Proteínas Quinases/genética , Proteínas Quinases/metabolismo , Proteínas Tirosina Quinases/metabolismo , Proteínas Proto-Oncogênicas c-crk , Ratos , Células Tumorais Cultivadas , Neoplasias da Bexiga Urinária/patologia , Domínios de Homologia de src/genéticaRESUMO
Cooling populations of newly formed mouse human heterokaryons has effects on the intermixing of mouse and human surface antigens which indicate the occurrence of phase separations in membrane lipids. Antigen mixing, previously shown to be due to diffusion in the plane of the membrane, is retarded when cells are cooled from 37 degrees to 21 degrees C, but is then speeded by further cooling to 15 degrees C. This result is in accord with observations on phase separations of lipids in artificial and bacterial membranes.
Assuntos
Antígenos/análise , Membrana Celular/imunologia , Antígenos de Histocompatibilidade/análise , Lipídeos , Temperatura , Animais , Bactérias , Permeabilidade da Membrana Celular , Núcleo Celular/imunologia , Células Cultivadas , Fenômenos Químicos , Química , Difusão , Humanos , Células Híbridas/imunologia , Membranas Artificiais , CamundongosRESUMO
The emergence of an increasing number of antibiotic resistant human clinical bacteria has been a great cause of concern for the last decades. As an example, Staphylococcus aureus isolates in the hospital environment are becoming more and more resistant to antibiotics including vancomycin which is considered as a last line of defence in treatment of Staphylococcus aureus-resistant methicillin. On the other hand, food safety is threatened by development of pathogenic bacteria including Listeria monocytogenes, Campylobacter jejuni, Salmonella enteritidis, Escherichia coli O157:H7 and Staphylococcus aureus. The use of antimicrobial peptides such as glycopeptides, semi-synthetic peptides, bacteriocins including lantibiotics offers a hope to face these clinical and food microbiology concerns. Clinical approval of new chemotherapeutic agents requires a long period of time. Research on bacteriocins has demonstrated potential use to fight against undesired foodborne pathogens but the use industrial use of bacteriocins is limited. To date only lantibiotic nisin and in class IIa bacteriocin Pediocin PA-1 are legally used as food preservative in many countries. The present minireview is focused on divercin V41 (DvnV41), a class IIa bacteriocin naturally produced by Carnobacterium divergens V41. The last decade has been the witness of intensive investigations carried out on this cationic peptide tempting to answer multiple questions covering basic and applied aspects. DvnV41 has shown a wide spectrum of activity either alone or in combination with nisin and/or polymixins (synergistic effect). This outcome indicates that Cb. divergens V41 could potentially be used for safe and efficient prevention of L. monocytogenes growth in cold smoked salmon.
Assuntos
Antibacterianos/farmacologia , Bacteriocinas/genética , Bacteriocinas/farmacologia , Conservantes de Alimentos/farmacologia , Listeria monocytogenes/efeitos dos fármacos , Salmão/microbiologia , Animais , HumanosRESUMO
Newborn screening (NBS) of cystic fibrosis (CF) was implemented throughout the whole of France in 2002, but it had been established earlier in three western French regions. It can reveal atypical CF with one or two known CFTR mild mutations, with an uncertain evolution. The sweat test can be normal or borderline. In Brittany, from 1989 to 2004, 196 CF cases were diagnosed (1/2885 births). The incidence of atypical CF diagnosed by NBS is 9.7% (19 from 196). The outcome of 17 (2 lost of view) has been studied, with 9 other atypical CF cases diagnosed by NBS in two other regions. The follow-up period extends from 0.25 to 19.8 years (NBS implemented in Normandy in 1980) with mean age 4.6 years. The most frequent mild mutation is R117H ISV8-7T (50%). At the time of the last visit, nutritional status is normal. All these CF patients are pancreatic sufficient. Only one patient exhibits respiratory infections, whereas 7 others have them intermittently. Two of them had intermittent Pseudomonas aeruginosa colonization at 2.8 and 6.5 years. Mean Shwachman score is 96.7, mean Brasfield score is 22.8. Eight children have had lung function tests (mean follow-up of 10 years): mean FVC was 99% of predicted, mean FEV1 101%, but one of them has FEV1 of 48%. Predicting the phenotype of these atypical CF patients remains difficult, thus complicating any genetic counselling. A regular clinical evaluation is necessary, if possible by a CF unit, because CF symptoms may appear later.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/sangue , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Mutação , Triagem Neonatal/métodos , Adolescente , Criança , Pré-Escolar , Fibrose Cística/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Infecções por Pseudomonas/complicações , Reprodutibilidade dos TestesRESUMO
Triple-negative breast cancer is a heterogeneous disease characterized by the expression of basal cell markers, no estrogen or progesterone receptor expression and a lack of HER2 overexpression. Triple-negative tumors often display activated Wnt/ß-catenin signaling and most have impaired p53 function. We studied the interplay between p53 loss and Wnt/ß-catenin signaling in stem cell function and tumorigenesis, by deleting p53 from the mammary epithelium of K5ΔNßcat mice displaying a constitutive activation of Wnt/ß-catenin signaling in basal cells. K5ΔNßcat transgenic mice present amplification of the basal stem cell pool and develop triple-negative mammary carcinomas. The loss of p53 in K5ΔNßcat mice led to an early expansion of mammary stem/progenitor cells and accelerated the formation of triple-negative tumors. In particular, p53-deficient tumors expressed high levels of integrins and extracellular matrix components and were enriched in cancer stem cells. They also overexpressed the tyrosine kinase receptor Met, a feature characteristic of human triple-negative breast tumors. The inhibition of Met kinase activity impaired tumorsphere formation, demonstrating the requirement of Met signaling for cancer stem cell growth in this model. Human basal-like breast cancers with predicted mutated p53 status had higher levels of MET expression than tumors with wild-type p53. These results connect p53 loss and ß-catenin activation to stem cell regulation and tumorigenesis in triple-negative cancer and highlight the role of Met signaling in maintaining cancer stem cell properties, revealing new cues for targeted therapies.
Assuntos
Células-Tronco Neoplásicas/patologia , Neoplasias de Mama Triplo Negativas/patologia , Proteína Supressora de Tumor p53/deficiência , Animais , Modelos Animais de Doenças , Matriz Extracelular/metabolismo , Feminino , Deleção de Genes , Camundongos , Proteínas Proto-Oncogênicas c-met/metabolismo , Transdução de Sinais , Neoplasias de Mama Triplo Negativas/genética , Proteína Supressora de Tumor p53/genética , beta Catenina/metabolismoRESUMO
INTRODUCTION: We assessed (i) the frequency of consultations for faintness in the Emergency department (ED) of a University hospital centre (UHC), (ii) clinical epidemiology and (iii) cost of faintness, taking a particular interest into the determining risk factors for hospitalization. METHODS: This epidemiological study has been conducted retrospectively, from data obtained for every patient having consulted for faintness in ED of Reims UHC (01/01/12-03/31/12). Every medical record was classified as syncope/lipothymia/brief consciousness loss on one hand and as syncope according to the definition of the French Health High Authority (FHHA). RESULTS: Three hundred and forty-one patients out of 5953 (5.7%) were referred for faintness during the study period. Medical records were analysed for 296 patients. Sixty-two point eight percent were women, with a median age of 43years. Physical examination was normal for 57% of patients. For 48% of cases, there was no complete consciousness loss thus corresponding to lipothymia, which is not taken into account by the FHHA definition. Median length of stay in the ED was 4hours and 67 patients (22.6%) were hospitalized. Minimal estimated cost was 280,000 euros. Risk factors independently associated with hospitalization were age≥60 and complete consciousness loss unlike predisposing circumstances to vagal hypertonia. CONCLUSION: Age≥60 and complete consciousness loss seemed to be associated with hospitalization.
Assuntos
Serviço Hospitalar de Emergência , Hospitalização , Síncope/diagnóstico , Síncope/economia , Síncope/epidemiologia , Triagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Aglomeração , Serviço Hospitalar de Emergência/economia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , França/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Síncope/terapia , Triagem/economia , Triagem/métodos , Adulto JovemRESUMO
Peroxisome proliferator-activator receptors (PPAR) are involved in cholesterol homeostasis through the regulation of bile acids synthesis, composition, and reclamation. As ileal bile acid-binding protein (I-BABP) is thought to play a crucial role in the enterohepatic circulation of bile acids, we investigated whether I-BABP gene expression could also be affected by PPAR. Indeed, treatment with the PPARalpha-PPARbeta/delta agonist bezafibrate led to the up-regulation of I-BABP mRNA levels in the human intestine-derived Caco-2 cells. Cotransfections of the reporter-linked human I-BABP promoter (hI-BABP-2769/+44) together with PPAR and RXR expression vectors demonstrated that the fibrate-mediated induction of the I-BABP gene is dependent on PPARalpha or PPARbeta/delta. Using progressive 5' deletions of the hI-BABP promoter and sequence analysis, we identified a putative PPAR-binding site located at the position -198 and -186 upstream of the transcription initiation site. Electrophoretic mobility shift assays showed that the PPAR/RXR heterodimer can specifically bind to this PPRE-like motif. The deletion of the PPRE within the hI-BABP promoter abolished the PPAR-mediated transactivation in transient transfection assays. The regulation of the I-BABP promoter by PPAR appears species-specific, as the mouse I-BABP promoter, which lacks a conserved PPRE, was not responsive to exogenous PPAR expression in the presence of bezafibrate. Our findings show that the I-BABP gene may be a novel target for PPAR in humans and further emphasize the role for PPAR in the control of bile acid homeostasis.
Assuntos
Proteínas de Transporte/genética , Regulação da Expressão Gênica , Íleo/metabolismo , Glicoproteínas de Membrana/genética , Receptores Ativados por Proliferador de Peroxissomo/metabolismo , Animais , Sequência de Bases , Bezafibrato/farmacologia , Sítios de Ligação , Células CACO-2 , Proteínas de Transporte/biossíntese , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Glicoproteínas de Membrana/biossíntese , Camundongos , Dados de Sequência Molecular , Regiões Promotoras Genéticas/genética , Elementos de Resposta/genética , Especificidade da EspécieRESUMO
UNLABELLED: Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. OBJECTIVE: To analyze the data for cases of idiopathic MPH. PATIENTS AND METHODS: A retrospective study of 29 patients with idiopathic MPH and no uterus. RESULTS: Four patients had a family history of abnormal sexual development and five had low birth weight. The initial manifestations were sexual ambiguity (26), microphallus and hypospadias (2), and primary amenorrhea (1). Basal and/or stimulated testosterone concentrations showed insufficient testosterone secretion in three patients. Genitography showed a vagina in 13 patients. Male genitoplasties were performed on 21 out of the 24 patients reared as males and female genitoplasties on five patients. Histological studies of the gonads of these showed streak gonads in one, normal gonads in one and signs of testicular dysgenesis in three others. Molecular studies on the SRY gene (17) showed no mutation. CONCLUSIONS: Idiopathic male pseudohermaphroditism is a heterogeneous condition, even within families with a history of this condition. We propose a set of guidelines for the management of these patients.
Assuntos
Transtornos do Desenvolvimento Sexual/terapia , Adolescente , Criança , Pré-Escolar , DNA/genética , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Genes sry/genética , Genitália/anormalidades , Genitália/cirurgia , Hormônios/sangue , Humanos , Lactente , Recém-Nascido , Leucócitos/ultraestrutura , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Aberrações dos Cromossomos Sexuais , Testículo/anormalidades , Testículo/patologia , Testículo/cirurgiaRESUMO
If the theory of evolution is now largely accepted, there are still many debates on the mechanisms of evolution, including human evolution. One of these mechanisms is heterochrony of development including progenesis and neoteny. We report on a patient who could be an example of human progenesis. This boy was born prematurely, after a cesarian section for preeclampsia. Family history was unremarkable. He walked unaided when he was 2.5 years old. At 5 years of age height was 95 cm (< 3rd centile), weight 18.6 kg (40th centile) and OFC 54 cm (98th centile is 53 cm). He had a macropenis. He attended elementary school. However, at 9 years of age he had to have special education. Puberty occurred when he was 8 years old. At 14 years of age height was 141 cm (3rd centile is 144 cm), weight 32.5 kg (3rd centile) and OFC 55.5 cm (75th centile). At physical examination he had hypertelorism, narrow forehead, short philtrum, retromicrognathia, large and low set ears, hyperlaxity, overcrowed teeth, dorsal kyphosis, and macropenis. Karyotype showed a deletion 13q21q31. The deletion was de novo and pure. In conclusion this case with sexual precocity and small final stature could be an example of progenesis, rising the question of the presence of a critical region for human evolution within chromosomal region 13q21q31.
Assuntos
Cromossomos Humanos Par 13/genética , Maturidade Sexual/genética , Evolução Biológica , Criança , Pálpebras/anormalidades , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Masculino , Micrognatismo/complicações , Micrognatismo/genética , Pênis/anatomia & histologia , Mutação Puntual/genética , Puberdade Precoce/genéticaRESUMO
Until the year 2000, systematic cystic fibrosis (CF) neonatal screening was only performed in a few regions of France. The Brittany region began in 1989, but not the neighboring region of Loire-Atlantique. The present study compares the clinical evolution of both affected populations 10 years after screening was started. Although the 77 screened and 36 nonscreened children were followed in different CF centers, they were included in similar care protocols. The clinical characteristics at diagnosis and their evolution over a 10-year period of all the children affected with CF and born between January 1, 1989 and December 31, 1998, excluding those with meconium ileus, were compared. There were no significant differences in sex ratio, gestational age, anthropometric data at birth, frequency of deltaF508 homozygotes, proportion of pancreatic-insufficient patients, and mean age between the two populations. Age at diagnosis was lower in the screened group (38 days vs. 472 days, P < 10(-7)), as was the delay in supplementation with pancreatic enzymes (1.7 months vs.15.9 months, P < 10(-7)). The proportion of children who were hospitalized at least once was higher among the nonscreened than the screened patients (86% vs. 49%, P < 10(-4)). Z-scores for weight and height were significantly better in the screened population, not only in the first years of life, but also at 5 years old for height and 8 years old for weight. The Shwachman and Brasfield scores were higher among the screened children during the whole period of follow-up. No significant differences in colonization by Pseudomonas aeruginosa nor in lung function were found. Given the homogeneity in the characteristics and the follow-up of both populations, the benefits in terms of nutrition and clinical well-being of neonatal screening appear to be clear, thus confirming the advantages of its general implementation.
Assuntos
Idade de Início , Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Triagem Neonatal , Criança , Pré-Escolar , Fibrose Cística/fisiopatologia , Progressão da Doença , Feminino , Seguimentos , França , Nível de Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Avaliação de Resultados em Cuidados de Saúde , Testes de Função Respiratória , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de TempoRESUMO
UNLABELLED: Neonatal screening for cystic fibrosis was started in Brittany in 1989 but not in the adjacent department of Loire-Atlantique. This study compares the outcome from the children of both populations nine years after the beginning of the screening. Those children were seen in different centers but with the same following guidelines. POPULATION AND METHODS: All children with cystic fibrosis born between 01/01/89 and 31/12/97 in Brittany and the Loire-Atlantique, excluding the meconium ileus, were compared for their initial characteristics and their outcome after nine years of follow-up. RESULTS: There was no significant difference between both populations for sex ratio, gestational age, birth biometry, percentage of homozygotes delta F508, and mean age of children. Age at diagnosis was lower in Brittany (37 vs 372 days, P < 10(-7)), as was the delay for starting pancreatic supplementation (1.5 vs 14.3 months, P < 10(-7)). Percentage of children hospitalized at least once was higher in Loire-Atlantique (84.4 vs 40.3%, P < 10(-4)). There was no significant difference for colonization with Pseudomonas aeruginosa. Z-scores for weight and height were better in Brittany, as were Shwachman's and Brasfield's scores. CONCLUSION: The homogeneity of both populations and their follow-up points out that even if the numbers of children are small and the study is retrospective, some benefits of neonatal screening appear, which are already found in other countries where it is partly practiced. This leads us recommend its general use in our populations, which should be associated with the follow-up of the screened children in cystic fibrosis centers to achieve the most of its benefits.
Assuntos
Fibrose Cística/diagnóstico , Triagem Neonatal , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Análise Custo-Benefício , Fibrose Cística/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Masculino , Índice de Gravidade de DoençaRESUMO
OBJECTIVES: We conducted a retrospective evaluation of enteral infusion with a marketed hypoosmolar oral rehydration solution (HORS), as an alternative to intravenous infusion. POPULATION AND METHODS: Premature infants, with difficult venous condition, 30 weeks or more during HORS infusion. Enteral ORS started after well-tolerated milk gastric gavage. Gradual increase of enteral feeding. RESULTS: January 1999 to April 2001, 105 neonates 28 weeks to 36 weeks, birth weight 1050 to 2700g, including 71.5% eutrophic newborns 30 to 34 weeks; 13.3% hypotrophic<10th P. More than 90% had a physiological weight curve: weight loss vs birth<15%, back to birth weight at day 15. No significant pathology during ORS. Failure of ORS for 7/105 children. Relative risk increased 8 fold if term was less than 30 weeks, 7 folds in the event of enteropathy before ORS. In 26.7% of the infants, gastric enteral residuals exceeded 1/3 of intake, vomiting and/or abdominal ballooning lasted less than 48 hours. There were 4 deaths during follow-up (periventricular leucomalacia, myocardial infarctus) and 1 necrotizing enterocolitis. At theoretical birth date, 25% of the neonates were hypotrophic<10th P. At one and 2 years of age, less than 5% were still hypotrophic: relative risk increased 18 fold when birth weight was<5th P. CONCLUSION: HORS is an efficient, well-tolerated, low-cost and less invasive alternative to intravenous infusion. It must be reserved for eutrophic neonates born>30 weeks gestation due to risk of failure and insufficient growth. Validation with a multicentric clinical trial is in progress.
Assuntos
Desidratação/prevenção & controle , Nutrição Enteral , Soluções para Reidratação/administração & dosagem , Feminino , Idade Gestacional , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Avaliação de Resultados em Cuidados de Saúde , Projetos Piloto , Estudos RetrospectivosRESUMO
Bronchopulmonary dysplasia (BPD) of very preterm infants is a multifactorial chronic lung disease and its incidence has not decreased despite improvements in neonatal intensive care, including lung protective strategies. Pulmonary hypertension (PH) can complicate the course of BPD. Mortality in infants with BPD-associated PH is thought to be very high, but its incidence is unknown and a standard diagnostic and therapeutic strategy has not been well defined. In this article, we will first describe the current knowledge on the BPD-associated PH and the current treatments available for this pathology. We will then present the HTP-DBP Study, carried out in Paris (France) starting in 2012. The diagnosis of PH is suspected on echocardiographic criteria, but cardiac catheterization is considered the gold standard for diagnosis and evaluation of the severity of PH. Moreover, pulmonary vasoreactivity testing is used to guide the management of patients with PH. The pathogenesis of BPD-associated PH is poorly understood and even less is known about appropriate therapy. Today, optimizing ventilation and reducing the pulmonary vascular tone with specific pulmonary vasodilatator drugs are the main goals in treating HTP-associated DBP. Animal studies and a few clinical studies suggest that medications targeting the nitric oxide (NO) signaling pathway (NO inhalation, oral sildenafil citrate) could be effective treatments for BPD-associated PH, but they have not been approved for this indication. The HTP-DBP study is a French multicenter prospective observational study. The objective is to evaluate the frequency of BPD-associated PH, to describe its physiopathology, its severity (morbidity and mortality), and the effectiveness of current treatments.
Assuntos
Displasia Broncopulmonar/diagnóstico , Hipertensão Pulmonar/diagnóstico , Administração por Inalação , Broncodilatadores/administração & dosagem , Displasia Broncopulmonar/complicações , Displasia Broncopulmonar/mortalidade , Displasia Broncopulmonar/fisiopatologia , Displasia Broncopulmonar/terapia , Cateterismo Cardíaco , Hipertensão Pulmonar Primária Familiar , França/epidemiologia , Humanos , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/mortalidade , Hipertensão Pulmonar/fisiopatologia , Hipertensão Pulmonar/terapia , Incidência , Lactente Extremamente Prematuro , Recém-Nascido , Óxido Nítrico/administração & dosagem , Piperazinas/administração & dosagem , Respiração com Pressão Positiva , Estudos Prospectivos , Purinas/administração & dosagem , Fatores de Risco , Índice de Gravidade de Doença , Citrato de Sildenafila , Sulfonas/administração & dosagem , Resultado do Tratamento , Vasodilatadores/administração & dosagemAssuntos
Fibrose Cística/diagnóstico , Fibrose Cística/genética , Mutação , Triagem Neonatal/ética , França , Humanos , Recém-NascidoRESUMO
Acute osteomyelitis, although a rare complication in neonates, is a diagnostic and therapeutic challenge. Successful treatment to avoid functional sequelae depends on early recognition of infection and rapid initiation of therapy. Although Staphylococcus aureus is the most common causative agent, coagulase-negative Staphylococcus (CONS), well known for bloodstream infection, can be involved in neonatal osteomyelitis. Risk factors of osteomyelitis include prematurity and invasive procedures, such as long-term central venous catheterization. We report on 3 cases of acute CONS osteomyelitis in preterm infants presenting with prolonged CONS bacteremia. Bacteremia persisted despite antibiotic treatment in accordance with antibiograms and despite removal of the intravascular device. All catheter cultures were negative and osteomyelitis was not located on the limb where the central catheter had been inserted in all cases. Osteomyelitis diagnosis may be difficult in neonates because of the paucity of clinical signs. In our observations, (99m)Tc scintigraphy was the key investigation for diagnosis and detection of multiple sites of bone infection. The place of this investigation is discussed in relation to other imaging techniques. These observations suggest that in the context of persisting CONS bacteremia, a secondary bone infection should be considered. Scintigraphy is a discriminating diagnostic tool.
Assuntos
Coagulase , Osteomielite/microbiologia , Infecções Estafilocócicas/diagnóstico , Antibacterianos/uso terapêutico , Bacteriemia/diagnóstico , Peso ao Nascer , Proteína C-Reativa/análise , Cesárea , Pré-Escolar , Feminino , Gentamicinas/uso terapêutico , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Osteomielite/tratamento farmacológico , Pré-Eclâmpsia , Gravidez , Infecções Estafilocócicas/tratamento farmacológico , Vancomicina/uso terapêuticoRESUMO
We investigated, for the first time, the expression of I- and L-FABP in two very rare hereditary lipid malabsorption syndromes as compared with normal subjects. Abetalipoproteinemia (ABL) and Anderson's disease (AD) are characterized by an inability to export alimentary lipids as chylomicrons that result in fat loading of enterocytes. Duodeno-jejunal biopsies were obtained from 14 fasted normal subjects, and from four patients with ABL and from six with AD. Intestinal FABP expression was investigated by immuno-histochemistry, western blot, ELISA and Northern blot analysis. In contrast to normal subjects, the cellular immunostaining for both FABPs was clearly decreased in patients, as the enterocytes became fat-laden. In patients with ABL, the intestinal contents of I- (60.7 +/- 13.38 ng/mg protein) and L-FABP (750.3 +/- 121.3 ng/mg protein) are significantly reduced (50 and 35%, P < 0.05, respectively) as compared to normal subjects (I-135.3 +/- 11.1 ng, L-1211 +/- 110 ng/mg protein). In AD, the patients also exhibited decreased expression (50%, P < 0.05; I-59 +/- 11.88 ng, L-618.2 +/- 104.6 ng/mg protein). Decreased FABP expression was not associated with decreased mRNA levels. The results suggest that enterocytes might regulate intracellular FABP content in response to intracellular fatty acids, which we speculate may act as lipid sensors to prevent their intracellular transport.
Assuntos
Abetalipoproteinemia/metabolismo , Proteínas de Ligação a Ácido Graxo/metabolismo , Mucosa Intestinal/metabolismo , Erros Inatos do Metabolismo Lipídico/metabolismo , Síndromes de Malabsorção/metabolismo , Abetalipoproteinemia/genética , Adolescente , Adulto , Criança , Proteínas de Ligação a Ácido Graxo/genética , Feminino , Humanos , Imuno-Histoquímica , Erros Inatos do Metabolismo Lipídico/genética , Síndromes de Malabsorção/genética , Masculino , RNA Mensageiro/metabolismoRESUMO
BACKGROUND: Maternal ageing is the only aetiological factor unequivocally linked to aneuploidy. Two mechanisms seem to explain these abnormalities in oocytes: non-disjunction and premature unbalanced separation of sister chromatids (PSSC). Previous studies of unfertilized oocytes argue for a major role of PSSC in the aetiology of aneuploidy for women of advanced age, but in vitro ageing of the oocytes could influence the results. METHODS: Owing to the high prevalence of aneuploidy in women of advanced age, chromosomal screening of the first polar body just before ICSI was offered to women (from 38 years of age) included in an assisted reproduction programme. RESULTS: Among 141 oocytes from 29 women (mean age 40 years and 2 months), 43 (30.5%) were abnormal. Sixty-five abnormalities were found and PSSC was involved in 80% of cases. CONCLUSION: These results are in accordance with previous studies and confirm, in 'fresh' oocytes, the major role of PSSC in the aetiology of aneuploidy in women of advanced age.