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1.
J Endocrinol Invest ; 47(4): 1037-1043, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37805962

RESUMO

INTRODUCTION: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOX transcript antisense RNA (HOTAIR) and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is, thus, a candidate to influence the distribution of fat mass, and also the redistribution of fat mass by pioglitazone in adolescent PCOS-without-obesity. SUBJECTS AND METHODS: We performed two post hoc analyses by HOTAIR rs1443512 genotype. In the first, we analyzed the pooled pre-treatment data (auxology; endocrinology; body composition by dual X-ray absorptiometry; abdominal fat distribution by magnetic resonance imaging) of 65 adolescent girls with PCOS-without-obesity in three reported studies (ISRCTN45546616; ISRCTN29234515; ISRCTN11062950). In the second, we analyzed the results of 24 adolescent girls with PCOS-without-obesity, who received pioglitazone (7.5 mg/d for 1 year) as part of a randomized combination treatment (with spironolactone and metformin) in two reported studies (ISRCTN29234515; ISRCTN11062950). All data had been obtained in a blinded-to-genotype way. RESULTS: The pre-treatment data disclosed that the girls-with-A-allele of HOTAIR rs1443512 had developed PCOS with a lower BMI (22.3 ± 2.3 kg/m2; N = 17) than the other girls (24.1 ± 2.7 kg/m2; N = 48), this difference being essentially attributable to a lower fat mass (mean difference 4.6 kg; P < 0.01). On low-dose pioglitazone, girls-with-A-allele (N = 12) raised their fat mass while the other girls (N = 12) did not (total fat mass + 2.2 ± 1.8 kg vs - 0.9 ± 2.2 kg; P < 0.001), particularly in the gynoid area (gluteofemoral fat + 0.6 ± 0.4 kg vs - 0.1 ± 0.5 kg; hip circumference + 2.3 ± 1.9 cm vs - 1.7 ± 3.1 cm; both P < 0.001). CONCLUSION: The present findings suggest that the HOTAIR rs1443512 genotype influences not only the distribution of fat mass in adolescent girls with PCOS-without-obesity but also the redistribution of fat mass during prolonged treatment with low-dose pioglitazone. TRIAL REGISTRATION: ISRCTN45546616 ( https://doi.org/10.1186/ISRCTN45546616 ). ISRCTN29234515 ( https://doi.org/10.1186/ISRCTN29234515 ). ISRCTN11062950 ( https://doi.org/10.1186/ISRCTN11062950 ).


Assuntos
Metformina , Síndrome do Ovário Policístico , Feminino , Adolescente , Humanos , Síndrome do Ovário Policístico/tratamento farmacológico , Pioglitazona/uso terapêutico , Metformina/uso terapêutico , Obesidade/tratamento farmacológico , Genótipo
2.
Microb Pathog ; 176: 106017, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36736545

RESUMO

The primary replication site of Influenza A virus (IAV) is type II alveolar epithelial cells (AECII), which are central to normal lung function and present important immune functions. Surfactant components are synthesized primarily by AECII, which play a crucial role in host defense against infection. The aim of this study was to analyze if the impact of influenza infection is differential between A(H1N1)pdm09 and A/Victoria/3/75 (H3N2) on costimulatory molecules and ProSP-C expression in AECII from BALB/c mice infected and A549 cell line infected with both strains. Pandemic A(H1N1)pdm09 and A/Victoria/3/75 (H3N2) were used to infect BALB/c mice and the A549 cell line. We evaluated the surface expression of co-stimulatory molecules (CD45/CD31/CD74/ProSP-C) in AECII and A549 cell lines. Our results showed a significant decrease in ProSP-C+ CD31- CD45- and CD74+ CD31- CD45- expression in AECII and A549 cell line with the virus strain A(H1N1)pdm09 versus A/Victoria/3/75 (H3N2) and controls (non-infection conditions). Our findings indicate that changes in the expression of ProSP-C in AECII and A549 cell lines in infection conditions could result in dysfunction leading to decreased lung compliance, increased work of breathing and increased susceptibility to injury.


Assuntos
Alphainfluenzavirus , Vírus da Influenza A Subtipo H1N1 , Influenza Humana , Animais , Humanos , Camundongos , Células Epiteliais Alveolares , Vírus da Influenza A Subtipo H3N2 , Tensoativos
3.
Foot Ankle Surg ; 28(3): 313-318, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33865710

RESUMO

OBJECTIVE: We examine the technique and radiographic outcomes obtained with triplanar first tarsometatarsal arthrodesis (3D Lapidus) for the surgical correction of hallux valgus (HV). This procedure, apart from correcting angular deformity 1st-2nd intermetatarsal angle, HV angle, etc., is specifically intended to act on first ray pronation and place the sesamoids in their normal position, to alleviate the metatarsalgia often occurring in HV before and after surgery, possibly caused by their abnormal position. This study aims to examine the radiographic outcomes of the 3D Lapidus procedure. MATERIALS AND METHODS: Retrospective study of 37 feet operated on from April 2019 to December 2019, with a minimum 1-year follow-up (mean 420 days), using the 3D Lapidus procedure. Radiographic outcomes were evaluated. RESULTS: The intermetatarsal angle decreased from a mean value of 16.42° to 5.62° (p < 0.0001). The HV angle decreased from a mean value of 32.12° to 8.05° (p < 0.0001). The preoperative first metatarsocuneiform angle, with a mean value of 21.86°, was null after arthrodesis (p < 0.0001). The tibial sesamoid position, according to the Hardy and Clapham classification, decreased from a mean value of 4.84 to 1.27 after surgery, within normality (p < 0.0001). DISCUSSION: Correction of the deformity in a single plane is generally insufficient. It is necessary to act on the three planes of space to correct the deformity, obtain good outcomes, and avoid recurrence. CONCLUSIONS: Radiographic outcomes of triplanar correction with the 3D Lapidus procedure are excellent, achieving statistically significant differences in all parameters studied.


Assuntos
Joanete , Hallux Valgus , Ossos do Metatarso , Artrodese/métodos , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/cirurgia , Humanos , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgia , Estudos Retrospectivos , Rotação
4.
Rev Med Chil ; 148(12): 1806-1812, 2020 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-33844747

RESUMO

The prevalence of inflammatory bowel disease (IBD) increased in the last decades. Thus, the number of pregnant women with the condition is also increasing. Given that active disease itself is the main risk factor for complications during pregnancy, it is necessary to achieve a complete remission before planning a pregnancy. Also, pregnant women with IBD must be monitored noninvasively and be treated proactively, including escalated therapies, if needed, to prevent potential flares during pregnancy. Patients can undergo vaginal delivery in most forms of IBD. However, cesarean delivery is still preferable in women with a history of ileal pouch-anal anastomoses (IPAA) or active perianal disease.


Assuntos
Colite Ulcerativa , Doenças Inflamatórias Intestinais , Complicações na Gravidez , Proctocolectomia Restauradora , Cesárea , Colite Ulcerativa/cirurgia , Parto Obstétrico , Feminino , Humanos , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/terapia , Gravidez , Complicações na Gravidez/epidemiologia
5.
J Virol ; 92(4)2018 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-29167342

RESUMO

There is increasing evidence to suggest that antibodies directed toward influenza A virus (IAV) neuraminidase (NA) are an important correlate of protection against influenza in humans. Moreover, the potential of NA-specific antibodies to provide broader protection than conventional hemagglutinin (HA) antibodies has been recognized. Here, we describe the isolation of two monoclonal antibodies, N1-7D3 and N1-C4, directed toward the N1 NA. N1-7D3 binds to a conserved linear epitope in the membrane-distal, carboxy-terminal part of the NA and reacted with the NA of seasonal H1N1 isolates ranging from 1977 to 2007 and the 2009 H1N1pdm virus, as well as A/Vietnam/1194/04 (H5N1). However, N1-7D3 lacked NA inhibition (NI) activity and the ability to protect BALB/c mice against a lethal challenge with a range of H1N1 viruses. Conversely, N1-C4 bound to a conformational epitope that is conserved between two influenza virus subtypes, 2009 H1N1pdm and H5N1 IAV, and displayed potent in vitro antiviral activity mediating both NI and plaque size reduction. Moreover, N1-C4 could provide heterosubtypic protection in BALB/c mice against a lethal challenge with 2009 H1N1pdm or H5N1 virus. Glutamic acid residue 311 in the NA was found to be critical for the NA binding and antiviral activity of monoclonal antibody N1-C4. Our data provide further evidence for cross-protective epitopes within the N1 subtype and highlight the potential of NA as an important target for vaccine and therapeutic approaches.IMPORTANCE Influenza remains a worldwide burden on public health. As such, the development of novel vaccines and therapeutics against influenza virus is crucial. Human challenge studies have recently highlighted the importance of antibodies directed toward the viral neuraminidase (NA) as an important correlate of reduced influenza-associated disease severity. Furthermore, there is evidence that anti-NA antibodies can provide broader protection than antibodies toward the viral hemagglutinin. Here, we describe the isolation and detailed characterization of two N1 NA-specific monoclonal antibodies. One of these monoclonal antibodies broadly binds N1-type NAs, and the second displays NA inhibition and in vitro and in vivo antiviral activity against 2009 H1N1pdm and H5N1 influenza viruses. These two new anti-NA antibodies contribute to our understanding of the antigenic properties and protective potential of the influenza virus NA antigen.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Anticorpos Antivirais/uso terapêutico , Neuraminidase/imunologia , Infecções por Orthomyxoviridae/prevenção & controle , Proteínas Virais/imunologia , Animais , Anticorpos Monoclonais/imunologia , Anticorpos Antivirais/imunologia , Proteção Cruzada , Modelos Animais de Doenças , Feminino , Imunização Passiva , Vírus da Influenza A Subtipo H1N1 , Virus da Influenza A Subtipo H5N1 , Camundongos , Camundongos Endogâmicos BALB C
6.
Int J Obes (Lond) ; 42(4): 915-918, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29089613

RESUMO

Low birth weight followed by rapid postnatal weight gain is associated with increased risks for obesity and diabetes in adulthood. Modulation of glucagon-like-peptide 1 (GLP-1) secretion by (epi)genetic mechanisms or nutrition may, in part, influence this risk. Formula-fed infants born small-for-gestational-age (SGA) have higher circulating GLP-1 at age 4 months than breastfed SGA or appropriate-for-gestational-age (AGA) infants. Here we assessed GLP-1 concentrations in healthy AGA (n=149) and SGA (n=107) subjects at age 12 months and their association with endocrine-metabolic and body composition parameters and GLP-1 receptor (GLP-1R) rs6923761 and rs3765467 polymorphisms. At birth, cord GLP-1 concentrations were comparable in AGA and SGA infants. At age 12 months, insulin-like growth factor I (IGF-I) and GLP-1 levels were higher than at birth; SGA infants displayed higher IGF-I and GLP-1 concentrations than AGA infants (both P<0.001) that were unrelated to neonatal nutrition or GLP-1R genotype and that were paralleled by a significant increase in weight Z-score (P<0.001 vs AGA). In conclusion, SGA infants have augmented IGF-I and prefeeding GLP-1 concentrations in late infancy. Increased GLP-1 levels may impair hypothalamic and/or peripheral GLP-1R signaling, exert long-term negative effects on the hypothalamic nuclei regulating energy homeostasis and increase the risks for obesity and diabetes.


Assuntos
Peptídeo 1 Semelhante ao Glucagon/sangue , Receptor do Peptídeo Semelhante ao Glucagon 1/genética , Recém-Nascido de Baixo Peso/metabolismo , Fator de Crescimento Insulin-Like I/análise , Estado Nutricional/fisiologia , Adulto , Aleitamento Materno , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso/sangue , Recém-Nascido , Estudos Longitudinais , Masculino , Polimorfismo de Nucleotídeo Único/genética
7.
Int J Obes (Lond) ; 42(1): 65-71, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28925408

RESUMO

BACKGROUND AND OBJECTIVE: The sequence of prenatal growth restraint and postnatal catch-up growth may lead to hepato-visceral adiposity, insulin resistance and low-grade inflammation before the onset of puberty. In prepubertal children born appropriate for gestational age (AGA) or small for gestational age (SGA), we assessed potential relationships between the aforementioned sequence and liver volume. SUBJECTS/METHODS: The study population consisted of 86 children (41 AGA and 45 SGA with catch-up growth; age (mean±s.e.m.), 8.5±0.1 years), recruited into two prospective longitudinal studies. Anthropometry, endocrine-metabolic variables and inflammatory and hepatic markers were assessed, along with liver volume, hepatic adiposity and abdominal fat partitioning (by magnetic resonance imaging). RESULTS: AGA and SGA children differed in hepato-visceral adiposity, but had similar liver volumes. Boys had larger livers than girls, and higher sex hormone binding globulin and inflammation markers. Liver volume correlated with height Z-score, body mass index Z-score, HOMA-IR (homeostasis model assessment-insulin resistance) and with subcutaneous and visceral fat, but not with birth weight Z-score or with hepatic adiposity. Height, visceral fat, gender and HOMA-IR were major determinants of liver volume, together explaining 61% of its variance. CONCLUSIONS: The trajectory from prenatal restraint, via postnatal catch-up, to hepato-visceral adiposity and insulin resistance does not appear to be detectably influenced by prepubertal alterations of liver volume. Further follow-up will disclose the potential role of liver volume in the pubertal segment of this trajectory, and whether the augmented fat content and visceral adiposity in SGA subjects is followed by the development of metabolic syndrome and hepatic dysfunction in adulthood.


Assuntos
Fígado Gorduroso/patologia , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Gordura Intra-Abdominal/patologia , Fígado/patologia , Obesidade Infantil/epidemiologia , Criança , Feminino , Gráficos de Crescimento , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Análise Multivariada , Sobrepeso/epidemiologia , Sobrepeso/patologia , Obesidade Infantil/patologia , Estudos Prospectivos , Fatores de Risco
8.
Int J Obes (Lond) ; 42(4): 641-647, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29064476

RESUMO

BACKGROUND/OBJECTIVES: It is well known that increased abdominal fat is associated with cardiovascular (CV) risk. Perirenal fat has been recently associated with CV risk in adults. However, studies with children are lacking. We investigated the relationship of perirenal fat and other abdominal fat depots (including preperitoneal, intra-abdominal and subcutaneous fat) with carotid intima-media thickness (cIMT-a surrogate marker of CV risk) in prepubertal children, so as to identify novel markers that can be easily assessed and used in the early prevention of cardiovascular disease. SUBJECTS/METHODS: Subjects were 702 asymptomatic prepubertal Caucasian children (418 lean, 142 overweight and 142 obese) who were recruited in a primary care setting. Ultrasound measurements (perirenal, preperitoneal, intra-abdominal and subcutaneous fat and cIMT), clinical (body mass index (BMI) and systolic blood pressure) and metabolic parameters (insulin resistance (HOMA-IR), high molecular weight (HMW) adiponectin and serum lipids) were assessed. RESULTS: Perirenal fat was associated with diverse metabolic and CV risk factors in all the studied subjects. However, in overweight and obese children, perirenal fat was mostly associated with cIMT (P<0.001) and was the only fat depot that showed independent associations with cIMT in multivariate analyses (overweight chidren: ß=0.250, P=0.003, r2=12.8%; obese children: ß=0.254, P=0.002, r2=15.5%) after adjusting for BMI, gender, age and metabolic parameters. Perirenal fat was also the only fat depot that showed independent associations with HMW-adiponectin in obese children (ß=-0.263, P=0.006, r2=22.8%). CONCLUSIONS: Perirenal fat is the main abdominal fat depot associated with cIMT, especially in overweight and obese children, and may thus represent a helpful parameter for assessing CV risk in the pediatric population.


Assuntos
Gordura Abdominal/diagnóstico por imagem , Espessura Intima-Media Carotídea/estatística & dados numéricos , Adiponectina/sangue , Pressão Sanguínea/fisiologia , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Fatores de Risco
9.
Int J Obes (Lond) ; 39(10): 1501-3, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26088812

RESUMO

Prenatal growth restraint associates with the risk for later diabetes, particularly if such restraint is followed by postnatal formula-feeding (FOF) rather than breast-feeding (BRF). Circulating incretins can influence the neonatal programming of hypothalamic setpoints for appetite and energy expenditure, and are thus candidate mediators of the long-term effects exerted by early nutrition. We have tested this concept by measuring (at birth and at age 4 months) the circulating concentrations of glucagon-like peptide-1 (GLP-1) in BRF infants born appropriate-for-gestational-age (AGA; n=63) and in small-for-gestational-age (SGA) infants receiving either BRF (n=28) or FOF (n=26). At birth, concentrations of GLP-1 were similar in AGA and SGA infants. At 4 months, pre-feeding GLP-1 concentrations were higher than at birth; SGA-BRF infants had GLP-1 concentrations similar to those in AGA-BRF infants but SGA-FOF infants had higher concentrations. In conclusion, nutrition appears to influence the circulating GLP-1 concentrations in SGA infants and may thereby modulate long-term diabetes risk.


Assuntos
Aleitamento Materno , Peptídeo 1 Semelhante ao Glucagon/metabolismo , Hipotálamo/fisiologia , Fórmulas Infantis , Plasticidade Neuronal/fisiologia , Adiponectina/metabolismo , Feminino , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Estudos Longitudinais , Masculino
10.
Int J Obes (Lond) ; 39(5): 742-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25599612

RESUMO

BACKGROUND/OBJECTIVE: Fibroblast growth factor 19 (FGF19) and 21 (FGF21) have been linked to obesity and type 2 diabetes in adults. We assessed the circulating concentrations of these factors in human neonates and infants, and their association with the endocrine-metabolic changes associated to prenatal growth restraint. SUBJECTS/METHODS: Circulating FGF19 and FGF21, selected hormones (insulin, insulin-like growth factor I and high- molecular-weight (HMW) adiponectin) and body composition (absorptiometry) were assessed longitudinally in 44 infants born appropriate- (AGA) or small-for-gestational-age (SGA). Measurements were performed at 0, 4 and 12 months in AGA infants; at 0 and 4 months in SGA infants; and cross-sectionally in 11 first-week AGA newborns. RESULTS: Circulating FGF19 and FGF21 surged >10-fold in early infancy from infra- to supra-adult concentrations, the FGF19 surge appearing slower and more pronounced than the FGF21 surge. Whereas the FGF21 surge was of similar magnitude in AGA and SGA infants, FGF19 induction was significantly reduced in SGA infants. In AGA and SGA infants, cord-blood FGF21 and serum FGF19 at 4 months showed a positive correlation with HMW adiponectin (r=0.49, P=0.013; r=0.43, P=0.019, respectively). CONCLUSIONS: Our results suggest that these early FGF19 and FGF21 surges are of a physiological relevance that warrants further delineation and that may extend beyond infancy.


Assuntos
Tecido Adiposo/metabolismo , Diabetes Mellitus Tipo 2/sangue , Fatores de Crescimento de Fibroblastos/sangue , Obesidade/sangue , Receptores de Fatores de Crescimento de Fibroblastos/metabolismo , Adulto , Composição Corporal , Diabetes Mellitus Tipo 2/metabolismo , Feminino , Fatores de Crescimento de Fibroblastos/metabolismo , Humanos , Lactente , Recém-Nascido , Resistência à Insulina , Masculino , Obesidade/etiologia , Obesidade/metabolismo , Transdução de Sinais
11.
Sci Rep ; 14(1): 16675, 2024 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-39030261

RESUMO

Weighted Gene Co-expression Network Analysis (WGCNA) is a widely used approach for the generation of gene co-expression networks. However, networks generated with this tool usually create large modules with a large set of functional annotations hard to decipher. We have developed TGCN, a new method to create Targeted Gene Co-expression Networks. This method identifies the transcripts that best predict the trait of interest based on gene expression using a refinement of the LASSO regression. Then, it builds the co-expression modules around those transcripts. Algorithm properties were characterized using the expression of 13 brain regions from the Genotype-Tissue Expression project. When comparing our method with WGCNA, TGCN networks lead to more precise modules that have more specific and yet rich biological meaning. Then, we illustrate its applicability by creating an APP-TGCN on The Religious Orders Study and Memory and Aging Project dataset, aiming to identify the molecular pathways specifically associated with APP role in Alzheimer's disease. Main biological findings were further validated in two independent cohorts. In conclusion, we provide a new framework that serves to create targeted networks that are smaller, biologically relevant and useful in high throughput hypothesis driven research. The TGCN R package is available on Github: https://github.com/aliciagp/TGCN .


Assuntos
Algoritmos , Doença de Alzheimer , Redes Reguladoras de Genes , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Perfilação da Expressão Gênica/métodos , Encéfalo/metabolismo , Biologia Computacional/métodos
12.
Dig Liver Dis ; 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38719628

RESUMO

BACKGROUND AND AIMS: Oxaliplatin (OX) has been described as a potential etiologic agent for porto-sinusoidal vascular disorder (PSVD). Our aim was to describe the natural history of PSVD due to OX in colon cancer (CRC) and identify risk factors for its development. METHODS: We made a multicenter retrospective case-control (ratio 1:3) study with patients diagnosed of PSVD-OX. Baseline data, end of treatment, years of follow-up and diagnosis of PSVD were collected and compared to controls (without PSVD). Besides, 16 different SNPs were selected from bibliography and analyzed by genotyping in the case group to identify potential genetic risk factors. RESULTS: 41 cases were identified, with a median time to PSVD diagnosis after the end of OX of 34 months. Spleen diameter was the strongest predictor of PSVD during treatment (OR 43.94 (14.48-133.336); p < 0.0001). Additionally, thrombocytopenia (<150 × 10^9) at one year was a significant disease risk marker (OR 9.35; 95% CI: 3.71-23.58; p = 0.001). We could not establish any significant association between the selected SNPs and PSVD diagnosis. CONCLUSION: The increase of spleen diameter is the strongest predictor of PSVD in patients treated with OX for CRC. These patients could be candidates for a specific follow-up of portal hypertension-related complications.

13.
Int J Obes (Lond) ; 37(2): 182-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22391885

RESUMO

OBJECTIVE: Shorter sleep duration predisposes to obesity, but the mechanisms whereby sleep deprivation affects body weight are poorly understood. We tested whether this association is modulated by the obesity genes FTO, TMEM18 and NRXN3. SUBJECTS: Body mass index (BMI), waist circumference, visceral fat (abdominal ultrasound), homeostasis model assessment for insulin resistance (HOMA-IR), systolic blood pressure (SBP) and sleep time per 24 h were assessed in 297 asymptomatic children (151 boys, 146 girls; age range 5-9 years; BMI s.d. score range -2.0-4.0). Associations between sleep duration and the abovementioned outcomes were tested for three common single-nucleotide polymorphisms (SNPs), namely FTO (rs9939609), TMEM 18 (rs4854344) and NRXN3 (rs10146997), as well as for their combination. RESULTS: TT homozygotes (but not A(*) carriers) for the FTO SNP, exhibited nominal associations between decreasing sleep duration and increasing BMI, waist circumference, visceral fat and HOMA-IR (all P<0.05). Similar associations were observed in children with risk alleles (but not in those without risk alleles) for the TMEM18 and NRXN3 SNPs (P<0.05 to P<0.0001). The three SNPs had additive effects on the negative associations between sleep and, respectively, BMI (P<0.001), waist (P<0.005), visceral fat (P<0.001), HOMA-IR (P=0.010) and SBP (P<0.0005). The combined effects on obesity measures and SBP remained significant after correction for multiple testing. On average, 2 h of sleep less per night was associated with an increase in BMI of 1.0 s.d. (95% confidence interval 0.5-1.6 s.d.) and with 8.0 cm (95% confidence interval 3.6-12.2 cm) more waist circumference in genetically susceptible children. CONCLUSION: By age 7, common variations in FTO, TMEM18 and NRXN3 influence the vulnerability to metabolic complications of sleep deprivation. Further genetic studies are warranted to replicate these findings in other populations.


Assuntos
Proteínas de Membrana/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Obesidade/metabolismo , Polimorfismo de Nucleotídeo Único , Proteínas/metabolismo , Transtornos do Sono-Vigília/metabolismo , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Resistência à Insulina , Gordura Intra-Abdominal , Masculino , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Obesidade/genética , Proteínas/genética , Transtornos do Sono-Vigília/genética , Circunferência da Cintura , Aumento de Peso
14.
Eur Arch Otorhinolaryngol ; 270(1): 93-7, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22307281

RESUMO

It has been suggested that malingering should be suspected in patients suffering from dizziness or imbalance and who had a potential gain associated with insurance and worker's compensation claims. This study aimed to assess and compare the prevalence of aphysiologic performance on computerized dynamic posturography (CDP) in patients with the potential for secondary gain using a retrospective review of two groups of patients: work-related patients referred for dizziness and/or imbalance (Group 1) were compared against a group of patients with complaints of dizziness or imbalance, who had no history of work-related injury, or litigation procedures (Group 2). CDP and videonystagmography (VNG) were carried out in all patients. The Sensory Organization Test summaries were scored as normal, aphysiologic, or vestibular using the scoring method published by Cevette et al. in Otolaryngol Head Neck Surg 112:676-688 (1995). 24 out of 88 (27%) patients had aphysiologic CDP in Group 1 and 9 out of 51 (18%) in Group 2 but these differences were not significant (p > 0.05). Definite signs of vestibular dysfunction were found in 12 out of 24 (50%) of patients with aphysiologic performance in Group 1 although the presence of VNG abnormalities was significantly higher (p = 0.005) in Group 2. The hypothesis that the occupational group could show a significantly higher rate of aphysiologic results than a control group is not confirmed. Furthermore, VNG abnormalities were found in 50% of the work-related cases with non organic sway patterns. These results suggest that patient's complaints should be considered genuine in work-related cases and due caution exercised when evaluating aphysiologic CDP patterns.


Assuntos
Tontura/diagnóstico , Tontura/fisiopatologia , Doenças Profissionais/diagnóstico , Doenças Profissionais/fisiopatologia , Equilíbrio Postural/fisiologia , Testes de Função Vestibular/métodos , Adulto , Distribuição de Qui-Quadrado , Diagnóstico Diferencial , Eletronistagmografia , Feminino , Humanos , Masculino , Simulação de Doença/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Indenização aos Trabalhadores
15.
Neurologia (Engl Ed) ; 38(5): 319-325, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35820636

RESUMO

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item 1). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.


Assuntos
Transtornos de Tique , Tiques , Humanos , Criança , Adolescente , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Transtornos de Tique/diagnóstico , Idioma
16.
Osteoporos Int ; 23(7): 2053-8, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21877200

RESUMO

SUMMARY: Circulating soluble fatty acid synthase (FASN, a key enzyme in de novo biosynthesis of fatty acids, expressed in both adipocytes and osteoblasts) is clinically related to a less favorable bone profile in healthy prepubertal children. Soluble FASN may participate in the reciprocal regulation between fat and bone metabolism. INTRODUCTION: Fatty acid synthase (FASN), a key enzyme in de novo biosynthesis of fatty acids, is expressed in adipocytes and osteoblasts. We hypothesized that FASN may participate in the crosstalk between fat and bone. To this aim, we studied the relation between circulating soluble FASN (an extracellular FASN that reflects previously intracellular enzymatic activity) and adipose tissue and bone biomarkers in prepubertal children. METHODS: Circulating soluble FASN, total and high molecular weight (HMW) adiponectin, bone biomarkers [osteocalcin (OC), uncarboxylated osteocalcin (ucOC), C-terminal cross-linked telopeptide of type I collagen (CTX), bone-specific alkaline phosphatase (BSAP)], and a profile of energy metabolism [body fat, insulin resistance and secretion (HOMA), serum lipids] were assessed in 84 asymptomatic prepubertal children (44 girls, 40 boys, age 6.8 ± 0.1 year). Serum 25-OH Vitamin D (Vit D) was additionally measured. RESULTS: Circulating soluble FASN increased with increasing HMW adiponectin (r = 0.29, p = 0.01) and decreasing serum Vit D (r = -0.21, p < 0.05), and was related to a less favorable bone profile, showing negative associations with bone-derived metabolic parameters [total OC (r = -0.33, p = 0.002) and ucOC (r = -0.37, p < 0.0001)] and a positive association with the CTX-to-BSAP ratio (r = 0.31, p < 0.01). These correlations were not explained by age, gender, body fat, insulin resistance or secretion or serum lipids; however, they were predominant in those subjects with Vit D levels below the population median. CONCLUSIONS: Circulating soluble FASN relates to both adipose tissue and bone biomarkers in prepubertal children, with associations that are dependent on Vit D concentrations. These findings suggest that FASN may participate in the crosstalk between fat and bone metabolism.


Assuntos
Osso e Ossos/metabolismo , Ácido Graxo Sintase Tipo I/sangue , Adiponectina/sangue , Tecido Adiposo/metabolismo , Fosfatase Alcalina/sangue , Antropometria/métodos , Biomarcadores/sangue , Criança , Colágeno Tipo I/sangue , Metabolismo Energético/fisiologia , Feminino , Humanos , Masculino , Osteocalcina/sangue , Peptídeos/sangue , Solubilidade , Vitamina D/sangue
17.
Arch Soc Esp Oftalmol ; 97(2): 63-69, 2022 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-34876775

RESUMO

OBJECTIVE: The COVID-19 pandemic led Spain to order a state of alert with the cessation of non-essential activities on 14 March 2020, and to implement public health interventions (such as home confinement) and other health recommendations to prevent the spread of the SARS-CoV-2 virus (hand washing and the obligation to wear face-masks). These factors could have influenced the rate of viral conjunctivitis. METHOD: In this retrospective, noninterventional, descriptive study, the incidence of viral conjunctivitis in an emergency department of a national hospital is compared over two distinct time periods: pre-COVID (13 March-30 September 2019, one year before the start of the pandemic) and COVID (13 March-30 September 2020). RESULTS: In the first period there were 436 cases of conjunctivitis, of which 168 (38.5%) were confirmed cases of viral conjunctivitis 168 (38.5%), while in the second period there were 121 recorded cases, of which the most frequent were allergic and traumatic (23 cases; 19% each group), bacterial (15 cases; 12.3%) and viral (15 cases; 12.3%). The diagnosis of viral conjunctivitis is the one that suffered the most significant relative reduction (48.5%), while other types of conjunctivitis hardly changed their relative frequency between these two periods of time. CONCLUSIONS: Viral conjunctivitis is the most frequent infectious disease of the eye and has a transmission rate similar to that of coronavirus, so the measures implemented could positively affect its incidence.

18.
Arch Soc Esp Oftalmol (Engl Ed) ; 97(2): 63-69, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35152950

RESUMO

OBJECTIVE: The COVID-19 pandemic led Spain to order a state of alert with the cessation of non-essential activities on 14 March 2020, and to implement public health interventions (such as home confinement) and other health recommendations to prevent the spread of the SARS-CoV-2 virus (hand washing and the obligation to wear face-masks). These factors could have influenced the rate of viral conjunctivitis. METHOD: In this retrospective, noninterventional, descriptive study, the incidence of viral conjunctivitis in an emergency department of a national hospital is compared over two distinct time periods: pre-COVID (13 March-30 September 2019, one year before the start of the pandemic) and COVID (13 March-30 September 2020). RESULTS: In the first period there were 436 cases of conjunctivitis, of which 168 (38.5%) were confirmed cases of viral conjunctivitis 168 (38.5%), while in the second period there were 121 recorded cases, of which the most frequent were allergic and traumatic (23 cases; 19% each group), bacterial (15 cases; 12.3%) and viral (15 cases; 12.3%). The diagnosis of viral conjunctivitis is the one that suffered the most significant relative reduction (48.5%), while other types of conjunctivitis hardly changed their relative frequency between these two periods of time. CONCLUSIONS: Viral conjunctivitis is the most frequent infectious disease of the eye and has a transmission rate similar to that of coronavirus, so the measures implemented could positively affect its incidence.


Assuntos
COVID-19 , Conjuntivite Viral , Conjuntivite Viral/epidemiologia , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2
19.
J Affect Disord ; 303: 131-137, 2022 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-35134393

RESUMO

BACKGROUND: Antidepressant drug consumption has increased, mainly in the elderly. This trend could be explained by the use for indications other than depression. We aimed to describe the indications related to antidepressant drug new users in two primary care settings. METHODS: A longitudinal study of new antidepressant users aged ≥65 was conducted, with data from the Nivel-PCD (The Netherlands) and SIDIAP (Catalonia) databases (2010-2015). As a proxy for indication, diagnoses registered around the 3 months of antidepressant prescribing were collected. Indications were classified in seven categories and an additional one of non-selected indications. The percentage and incidence calculated over the total population registered was described. RESULTS: A total of 16,537 and 199,168 new antidepressant users were identified in the Nivel-PCD and SIDIAP databases, respectively (women aged 65-69 were the most prevalent). Depression was the most frequent indication (24.0% and 31.3%), followed by anxiety (12.5% and 19.5%) and sleep disorders (10.2% and 26.4%). Tricyclic antidepressants were the most commonly prescribed in Nivel-PCD (48.7%), mainly associated with neuropathic pain, and selective serotonin reuptake inhibitor antidepressants in SIDIAP (63.1%), associated with depression. The non-selected indications category showed an upward trend in the Nivel-PCD database while in the SIDIAP database it decreased. LIMITATIONS: It is not mandatory for physicians to register a diagnosis with each prescription. CONCLUSIONS: Depression was the most common prescribing indication in The Netherlands and Spain, followed by anxiety and sleep disorders. The most commonly prescribed antidepressant differed between the countries and is likely explained by differences in local guidelines.


Assuntos
Antidepressivos , Transtornos do Sono-Vigília , Idoso , Antidepressivos/uso terapêutico , Ansiedade , Feminino , Humanos , Estudos Longitudinais , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Transtornos do Sono-Vigília/tratamento farmacológico
20.
Gynecol Obstet Invest ; 72(2): 123-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21709395

RESUMO

AIMS: The aims of this study were to describe pelvic organ support 6 months postpartum among women who delivered by cesarean section, spontaneous and instrumental vaginal delivery, and to evaluate the differences between the groups. METHODS: This was a cross-sectional study of 382 primigravid women who gave birth at Donostia Hospital during 2007. Pelvic organ support was explored 6 months postpartum using the pelvic organ prolapse quantification (POPQ) system. Joint hypermobility, height and weight were also assessed. RESULTS: POPQ stage ≥II was present in 7.7, 18.1 and 29.0% of women who delivered by cesarean section, spontaneous and instrumental vaginal delivery, respectively. Spontaneous vaginal delivery increased the risk by more than three times (OR 3.19; 95% CI 1.07-9.49) while instrumental vaginal delivery increased it more than fivefold (OR 5.52; 95% CI 1.79-17.30) in comparison with cesarean section. Instrument-assisted delivery did not increase the risk of prolapse in women who delivered vaginally. CONCLUSIONS: Cesarean section is associated with a lower prevalence of pelvic organ prolapse after delivery. Instrument- assisted delivery is not associated with an increased risk of postpartum prolapse among women who delivered vaginally.


Assuntos
Parto Obstétrico/efeitos adversos , Complicações do Trabalho de Parto/epidemiologia , Diafragma da Pelve/fisiopatologia , Prolapso de Órgão Pélvico/epidemiologia , Adolescente , Adulto , Cesárea , Estudos Transversais , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Feminino , Humanos , Pessoa de Meia-Idade , Complicações do Trabalho de Parto/etiologia , Avaliação de Resultados em Cuidados de Saúde , Paridade , Prolapso de Órgão Pélvico/etiologia , Período Pós-Parto , Gravidez , Fatores de Risco , Espanha/epidemiologia , Adulto Jovem
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