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1.
J Eur Acad Dermatol Venereol ; 35(4): 844-883, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32976663

RESUMO

Dermatophyte infections are the most common fungal infections in humans; among them, tinea capitis (TC) - the most contagious fungal infection - is caused by anthropophilic, zoophilic and geophilic dermatophytes. The purpose of this systematic review was to determine the different aetiological variants involved in TC and the overall epidemiology of the causes of this infection in the last two decades. We searched the MEDLINE (PubMed) and Embase databases for articles published from July 2000 to August 2019 using the following search terms: 'Tinea capitis', 'Africa', 'America', 'Asia', 'Europe', 'Oceania', and the names of the countries on each continent. The flow of information through the different phases in this systematic review was depicted using a PRISMA flow diagram, which mapped the number of records identified, included and excluded, and the reasons for exclusion. Our findings indicate that the frequency of different aetiologic agents of TC in the reported studies varied globally, from 0.4-87.7% in Africa, 0.2-74.0% in North America, 0.0-91.2% in Eastern Asia, 0.0-69.0% in Eastern Europe and 2.9-86.4% in Oceania. Microsporum canis is the most frequent reported zoophilic agent worldwide, while Trichophyton violaceum and Trichophyton tonsurans are the predominant anthropophilic agents. Over time, the frequency of these latter fungal infections has increased globally, and these fungi have become the major species globally. Anthropophilic transmission - the most prevalent type of transmission - could be explained by two factors: (i) the socioeconomic status of affected countries and population groups with associated risk factors and (ii) movement of populations importing new causes of infection to areas where they had not been encountered previously. We observed that intercontinental migration and travel; globalization; environmental, climatic and ecological changes; and accelerated evolution of health technologies may influence the observed epidemiological changes and, consequently, contributed to the variations in the global status of TC.


Assuntos
Tinha do Couro Cabeludo , Arthrodermataceae , Ásia , Europa (Continente) , Europa Oriental , Humanos , Microsporum , Tinha do Couro Cabeludo/epidemiologia , Trichophyton
3.
Epidemiol Infect ; 147: e183, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-31063113

RESUMO

The disease caused by the influenza virus is a global public health problem due to its high rates of morbidity and mortality. Thus, analysis of the information generated by epidemiological surveillance systems has vital importance for health decision making. A retrospective analysis was performed using data generated by the four molecular diagnostic laboratories of the Mexican Social Security Institute between 2010 and 2016. Demographics, influenza positivity, seasonality, treatment choices and vaccination status analyses were performed for the vaccine according to its composition for each season. In all cases, both the different influenza subtypes and different age groups were considered separately. The circulation of A/H1N1pdm09 (48.7%), influenza A/H3N2 (21.1%), influenza B (12.6%), influenza A not subtyped (11%) and influenza A/H1N1 (6.6%) exhibited well-defined annual seasonality between November and March, and there were significant increases in the number of cases every 2 years. An inadequate use of oseltamivir was determined in 38% of cases, and the vaccination status in general varied between 12.1 and 18.5% depending on the season. Our results provide current information about influenza in Mexico and demonstrate the need to update both operational case definitions and medical practice guidelines to reduce the inappropriate use of antibiotics and antivirals.


Assuntos
Vírus da Influenza A/fisiologia , Influenza Humana/epidemiologia , Laboratórios/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Influenza Humana/virologia , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Estações do Ano , Adulto Jovem
5.
Eur J Neurol ; 24(1): 122-129, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27753163

RESUMO

BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS), a motor neuron disease, is associated with various cortical symptoms including mild cognitive decline with behavior changes, suggesting the involvement of extra-motor areas in ALS. Our aim was to investigate the specific patterns of brain atrophy in sporadic, impaired ALS patients without commonly known genetic mutations using voxel-based morphometry. MATERIALS AND METHODS: Forty-seven patients with sporadic ALS and 28 age-matched healthy controls were recruited. ALS participants were divided into three groups according to comprehensive neuropsychological testing: pure (ALS-pure), cognitive impairment (ALSci) and behavioral impairment (ALSbi). Quantitative comparison of brain atrophy patterns was performed amongst these three groups using voxel-based analysis. All analyses were adjusted for total intracranial volume, age, sex, disease duration and functional disability score. RESULTS: The ALSci group exhibited decreased volume in the left cerebellum, fusiform gyrus, optic radiations and corticospinal tracts compared to healthy controls. ALSci patient imaging showed decreased brain volume in the bilateral cerebellum, right putamen gray matter and bilateral superior longitudinal fasciculi white matter compared to pure ALS patients (P < 0.001 uncorrected, corrected for the entire volume). Compared to healthy controls, ALS-pure and ALSbi groups did not show any significant volume changes in gray and white matter. CONCLUSIONS: These findings also support the hypothesis that ALS pathogenesis has a dual focality of onset (cortex and anterior horn) with contiguous spread outwards. Additionally, neuropsychological features may be an important predictor of progression and survival rates in ALS.


Assuntos
Esclerose Lateral Amiotrófica/patologia , Atrofia/patologia , Substância Cinzenta/patologia , Córtex Motor/patologia , Adulto , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Atrofia/diagnóstico por imagem , Progressão da Doença , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Córtex Motor/diagnóstico por imagem , Prognóstico , Tratos Piramidais/diagnóstico por imagem , Tratos Piramidais/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
6.
Neuroimage ; 100: 684-691, 2014 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-24999038

RESUMO

Interstitial concentration of amyloid beta (Aß) is positively related to synaptic activity in animal experiments. In humans, Aß deposition in Alzheimer's disease overlaps with cortical regions highly active earlier in life. White matter lesions (WML) disrupt connections between gray matter (GM) regions which in turn changes their activation patterns. Here, we tested if WML are related to Aß accumulation (measured with PiB-PET) and glucose uptake (measured with FDG-PET) in connected GM. WML masks from 72 cognitively normal (age 61.7 ± 9.6 years, 71% women) individuals were obtained from T2-FLAIR. MRI and PET images were normalized into common space, segmented and parcellated into gray matter (GM) regions. The effects of WML on connected GM regions were assessed using the Change in Connectivity (ChaCo) score. Defined for each GM region, ChaCo is the percentage of WM tracts connecting to that region that pass through the WML mask. The regional relationship between ChaCo, glucose uptake and Aß was explored via linear regression. Subcortical regions of the bilateral caudate, putamen, calcarine, insula, thalamus and anterior cingulum had WM connections with the most lesions, followed by frontal, occipital, temporal, parietal and cerebellar regions. Regional analysis revealed that GM with more lesions in connecting WM and thus impaired connectivity had lower FDG-PET (r = 0.20, p<0.05 corrected) and lower PiB uptake (r = 0.28, p<0.05 corrected). Regional regression also revealed that both ChaCo (ß = 0.045) and FDG-PET (ß = 0.089) were significant predictors of PiB. In conclusion, brain regions with more lesions in connecting WM had lower glucose metabolism and lower Aß deposition.


Assuntos
Peptídeos beta-Amiloides/metabolismo , Glicemia/metabolismo , Encéfalo/metabolismo , Substância Branca/metabolismo , Idoso , Compostos de Anilina , Encéfalo/patologia , Feminino , Fluordesoxiglucose F18 , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Tiazóis , Substância Branca/patologia
7.
Neurodegener Dis ; 13(2-3): 163-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24107601

RESUMO

BACKGROUND: The pathophysiological process of Alzheimer's disease (AD) begins many years before the emergence of clinical symptoms (preclinical AD). A hypothetical biomarker progression in the pathogenesis of AD has been suggested, beginning with the deposition of amyloid-ß (Aß) and followed by increases in neurofibrillary tangles, synaptic loss, hippocampal atrophy, and lastly, cognitive impairment. OBJECTIVE: We explored the effect of several risk factors for AD on the pattern of AD biomarker expression in normal subjects. METHODS: AD biomarker evidence was examined at baseline in 96 cognitively normal elderly subjects with none or at least one of the following: ApoE4+ allele, a maternal history of AD (mFHx), sleep-disordered breathing (SDB), and longitudinal evidence of decline to mild cognitive impairment or AD (decliners) at follow-up. RESULTS: Decliners and ApoE4+ subjects presented with expected reduced cerebrospinal fluid Aß42, elevated P-tau and T-tau. In addition, decliners had fluorodeoxyglucose positron emission tomography hypometabolism in the medial temporal lobe. Individuals with mFHx demonstrated no Aß42 effect, but had elevations in P-tau and T-tau. SDB was found to be associated with elevated Aß42, P-tau and T-tau, as well as with reduced medial temporal lobe glucose metabolic rates. CONCLUSION: Our results indicate a heterogeneous biomarker expression, suggesting diversity of AD pathways in at-risk presymptomatic subjects.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/diagnóstico por imagem , Biomarcadores/líquido cefalorraquidiano , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/genética , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Apolipoproteína E4/genética , Disfunção Cognitiva/líquido cefalorraquidiano , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fragmentos de Peptídeos/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons , Proteínas tau/líquido cefalorraquidiano
8.
Tech Coloproctol ; 18(3): 285-9, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23695190

RESUMO

Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast cancer, whereas carriers of mutations in any of the mismatch repair genes (MMR; hMLH1, hMSH2, hMSH6, hPMS2) are highly susceptible to Lynch syndrome. In the present study, we describe a woman affected by unilateral breast cancer at the age of 35 years. After 4 years, during the follow-up she developed synchronous (and asymptomatic) endometrial cancer, ovarian carcinoma and renal clear cell carcinoma. After 7 years (at age 46), the patient developed an infiltrating carcinoma of the contralateral breast and died in a few months of metastatic disease. Initial investigations led to the detection of a constitutional mutation in the BRCA1 gene. The extended genealogical tree disclosed a suspected history of colorectal carcinoma in the maternal branch. Endometrial cancer of the proband was investigated for microsatellite instability (MSI) and immunohistochemical expression of MLH1, MSH2 and MSH6 proteins. An high MSI status and lack of expression of MLH1 protein were detected. hMLH1 gene sequencing revealed the presence of a constitutional mutation, which was also found in the mother of the proband. Loss of the wild-type hMLH1 allele was detected in both breast tumors, thus suggesting that the MMR defect contributed to the development of the breast cancer.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Neoplasias da Mama/genética , Neoplasias do Endométrio/genética , Genes BRCA1 , Neoplasias Renais/genética , Neoplasias Primárias Múltiplas/genética , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Alelos , Neoplasias da Mama/patologia , Neoplasias do Endométrio/patologia , Evolução Fatal , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Imuno-Histoquímica , Neoplasias Renais/patologia , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Gradação de Tumores , Neoplasias Ovarianas/patologia , Linhagem
9.
Forensic Sci Int ; 354: 111908, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38096750

RESUMO

INTRODUCTION AND OBJECTIVES: To investigate the epidemiological characteristics, clinic-pathological findings and recent use of substances of abuse and prescribed drugs in sexual activity-related sudden death (SArSD). METHODS: Multicenter population-based study on forensic autopsies conducted in 27 provinces of Spain over 12 years (2010-2021). RESULTS: Out of 18046 autopsied natural deaths, 64 cases (0.35 %) of SArSD were investigated (87 % males). Women were younger than males (50.5 ± 13.4 years vs 37.2 ± 14.2; p = 0.017). Sudden cardiac deaths (SCD) accounted for 87 % of cases. Ischemic heart disease was the predominant pathology (58 %), mainly affecting men ≥ 36 years of age. Cerebral haemorrhage (8 %) and asthma (5 %) were the leading non-cardiac causes. In young adults, SADS (36 %) and asthma (27 %) were the main causes The disease responsible of SCD was diagnosed in life in 7 subjects. In 64 % there were cardiovascular risk factors, mainly obesity. Toxicological analysis detected illicit drugs (23 %), mainly cocaine, medications for erectile dysfunction (9 %), and ethanol ≥ 0.5 g/L (8 %). Deaths occurred usually in the context of heterosexual intercourse and during or immediately after sexual activity. The most common location was at home (63 %). In 12 men the sexual partner was a sex worker. CONCLUSIONS: SArSD has a low incidence in the general population affecting middle-aged males during intercourse with a heterosexual partner. It is of cardiovascular origin, mainly due to ischemic heart disease that frequently remained silent during life. There is a frequent association with obesity, use of cocaine (and, to a lesser extent, medications for erectile dysfunction) and performing unconventional sexual practices. Forensic investigation is useful for developing prevention strategies.


Assuntos
Asma , Cocaína , Disfunção Erétil , Isquemia Miocárdica , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Humanos , Feminino , Disfunção Erétil/complicações , Comportamento Sexual , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/patologia , Autopsia , Obesidade/complicações , Causas de Morte
10.
R Soc Open Sci ; 11(1): 231270, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38298390

RESUMO

Species with extensive geographical ranges pose special challenges to assessing drivers of wildlife disease, necessitating collaborative and large-scale analyses. The imperilled foothill yellow-legged frog (Rana boylii) inhabits a wide geographical range and variable conditions in rivers of California and Oregon (USA), and is considered threatened by the pathogen Batrachochytrium dendrobatidis (Bd). To assess drivers of Bd infections over time and space, we compiled over 2000 datapoints from R. boylii museum specimens (collected 1897-2005) and field samples (2005-2021) spanning 9° of latitude. We observed a south-to-north spread of Bd detections beginning in the 1940s and increase in prevalence from the 1940s to 1970s, coinciding with extirpation from southern latitudes. We detected eight high-prevalence geographical clusters through time that span the species' geographical range. Field-sampled male R. boylii exhibited the highest prevalence, and juveniles sampled in autumn exhibited the highest loads. Bd infection risk was highest in lower elevation rain-dominated watersheds, and with cool temperatures and low stream-flow conditions at the end of the dry season. Through a holistic assessment of relationships between infection risk, geographical context and time, we identify the locations and time periods where Bd mitigation and monitoring will be critical for conservation of this imperilled species.

11.
Curr Microbiol ; 67(3): 362-71, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23649743

RESUMO

Mycobacterium tuberculosis has developed resistance to anti-tuberculosis first-line drugs. Multidrug-resistant strains complicate the control of tuberculosis and have converted it into a worldwide public health problem. Mutational studies of target genes have tried to envisage the resistance in clinical isolates; however, detection of these mutations in some cases is not sufficient to identify drug resistance, suggesting that other mechanisms are involved. Therefore, the identification of new markers of susceptibility or resistance to first-line drugs could contribute (1) to specifically diagnose the type of M. tuberculosis strain and prescribe an appropriate therapy, and (2) to elucidate the mechanisms of resistance in multidrug-resistant strains. In order to identify specific genes related to resistance in M. tuberculosis, we compared the gene expression profiles between the pansensitive H37Rv strain and a clinical CIBIN:UMF:15:99 multidrug-resistant isolate using microarray analysis. Quantitative real-time PCR confirmed that in the clinical multidrug-resistant isolate, the esxG, esxH, rpsA, esxI, and rpmI genes were upregulated, while the lipF, groES, and narG genes were downregulated. The modified genes could be involved in the mechanisms of resistance to first-line drugs in M. tuberculosis and could contribute to increased efficiency in molecular diagnosis approaches of infections with drug-resistant strains.


Assuntos
Farmacorresistência Bacteriana Múltipla , Mycobacterium tuberculosis/efeitos dos fármacos , Mycobacterium tuberculosis/genética , Transcriptoma , Genes Bacterianos , Reação em Cadeia da Polimerase em Tempo Real
12.
Tech Coloproctol ; 17(1): 79-87, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22976915

RESUMO

BACKGROUND: Attenuated familial adenomatous polyposis (AFAP) is characterized by the presence of 10-99 colorectal adenomas. The disease may be associated with mutations in either APC or MUTYH genes. We purposed to evaluate the contribution of adenomatous polyposis coli (APC) and MutY homologue (MUTYH) germline alterations to the AFAP phenotype and to identify genotype/phenotype correlations. METHODS: During counselling for familial adenomatous polyposis (FAP), 91 probands (and 107 affected individuals) who met the criteria of AFAP were identified. Eighty-two families were screened for constitutional mutations of the APC and MUTYH genes. RESULTS: MUTYH mutations were detected in 21 families (25.6 % of the 82 tested), and APC mutations in 7 (8.5 %). Overall, constitutional alterations were found in 34.1 % of the probands. Patients with APC mutations were younger at cancer onset and had a higher mean number of polyps (48.5 ± 33.0 in APC+ individuals vs. 35.7 ± 24.9 in MUTYH+ individuals, and 33.2 ± 18.4 in the "no mutation" group). Clinical features rendered the "no mutation" group closer to MUTYH+ than to the APC+ group. Colorectal cancer at diagnosis was detected in 40 % of AFAP individuals. CONCLUSIONS: AFAP is a new clinical entity with its frequency in the general population still undefined. The number of adenomas varies greatly, with an average of 30-40 lesions. The molecular basis of AFAP can be established in approximately 1/3 of the patients. Both MUTYH and APC genes are implicated in AFAP, though the role of MUTYH is of considerably greater relevance.


Assuntos
DNA Glicosilases/genética , Síndrome de Gardner/genética , Síndrome de Gardner/patologia , Genes APC , Adolescente , Adulto , Fatores Etários , Idoso , Feminino , Genótipo , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Estatísticas não Paramétricas , Carga Tumoral/genética , Adulto Jovem
13.
Rev Esp Cir Ortop Traumatol ; 66(6): T82-T85, 2022.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35940559

RESUMO

INTRODUCTION: In the last decades sports practice in children has increased, thus increasing the number of musculoskeletal injuries. There are no validated scales in Spanish for the functional evaluation of knee aspects in children. The validation and cross-cultural adaptation of the Pedi-IKDC scale to Spanish, used for this purpose, was carried out. METHODOLOGY: The scale was applied to 50 patients that suffered traumatic knee injuries between 2016 and 2021 and underwent surgical interventions. The validation process of the scale was carried out after a pilot test, cross-cultural adaptation of words into Spanish, translation-retranslation, statistical, determination of internal consistency of the instrument, intraclass correlation, test-retest and evaluation of data dispersion. RESULTS: The internal consistency of the evaluated instrument is good according to the Gregory scale with a Cronbach's alpha of 0.82 The intraclass correlation was considered substantial (0.624) and the test-retest correlation, showed a coefficient of 0.91. The Bland-Altman graph showed a low dispersion among the data. CONCLUSION: The Pedi-IKDC scale can be a useful tool to assess functionality in children who have undergone knee surgery, it is considered valid, with adequate reliability and with the advantage of easy application.

14.
Rev Esp Cir Ortop Traumatol ; 66(6): 500-503, 2022.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35691574

RESUMO

INTRODUCTION: In the last decades sports practice in children has increased, thus increasing the number of musculoskeletal injuries. There are no validated scales in Spanish for the functional evaluation of knee aspects in children. The validation and cross-cultural adaptation of the Pedi-IKDC scale to Spanish, used for this purpose, was carried out. METHODOLOGY: The scale was applied to 50 patients that suffered traumatic knee injuries between 2016 and 2021 and underwent surgical interventions. The validation process of the scale was carried out after a pilot test, cross-cultural adaptation of words into Spanish, translation-retranslation, statistical, determination of internal consistency of the instrument, intraclass correlation, test-retest and evaluation of data dispersion. RESULTS: The internal consistency of the evaluated instrument is good according to the Gregory scale with a Cronbach's alpha of 0.82 The intraclass correlation was considered substantial (0.624) and the test-retest correlation, showed a coefficient of 0.91. The Bland-Altman graph showed a low dispersion among the data. CONCLUSION: The Pedi-IKDC scale can be a useful tool to assess functionality in children who have undergone knee surgery, it is considered valid, with adequate reliability and with the advantage of easy application.

15.
Prostate Cancer Prostatic Dis ; 25(3): 507-512, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34599275

RESUMO

BACKGROUND: Variants of 8q24 locus have been associated with prostate cancer (PCa) susceptibility. This study aims to analyze the genetic basis of PCa susceptibility in Mexican men by analyzing SNPs in the 8q24 locus for the first time. METHODS: A case-control study was performed in 875 men recruited from the Mexican Social Security Institute, 326 patients with PCa, and 549 non-PCa patients (88 with benign prostatic hyperplasia BPH and 461 healthy controls). The 8q24 locus SNPs: rs16901979, rs16983267, rs1447295, and rs7837328 were genotyped by allelic discrimination assays using TaqMan probes. Statistical analysis was performed using Epi Info statistical 7.0 and SNPstats softwares. RESULTS: All genotype frequencies were in Hardy-Weinberg Equilibrium. No differences were observed in genotype distribution between PCa and non-PCa patients for rs6983267. Under different inheritance models, the rs16901979, rs1447295, and rs7837328 SNPs were associated with PCa (OR = 2.8, 1.8, and 1.72, respectively; Pc < 0.001) when comparing PCa patients against controls. This association remains between PCa and BPH patients under different models (OR = 8.5, 2.2, and 1.9, respectively; Pc < 0.001). There were no significant differences in allele and genotype distribution among BPH patients and controls. The combined effect of the alleles CGAA for the SNPs rs16901979, rs6983267, rs1447295, and rs7837328 showed significant differences between PCa patients and controls (OR = 2.9, 95% CI = 1.48-5.83, Pc = 0.008). Four 8q24 variants were not associated with D'Amico score, age at diagnosis, and bone metastases. CONCLUSIONS: Our study provides the first confirmation that variants rs16901979, rs1447295, and 7837328 at 8q24 locus are associated with PCa susceptibility in Mexican men.


Assuntos
Hiperplasia Prostática , Neoplasias da Próstata , Estudos de Casos e Controles , Cromossomos Humanos Par 8/genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Hiperplasia Prostática/genética , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/genética , Neoplasias da Próstata/patologia
16.
Growth Factors ; 29(6): 278-89, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21913804

RESUMO

We showed that when insulin-like growth factor II (IGF-II) is highly expressed in breast tissues and cell lines, the IGF-I receptor signaling pathway is highly activated. Since IGF-II activates the insulin receptor (INSR), we propose that the INSR signaling is also activated in this system. We examined the expression of both INSR isoforms, insulin receptor A (INSR-A) and insulin receptor B (INSR-B), and the downstream signaling pathways in breast cancer (BC) cells and in paired (normal/tumor) breast tissues from 100 patients. Analysis was performed by real-time PCR, Western blot, immunohistochemistry, and phospho-ELISA techniques. Tumor tissues and cell lines from African-American patients expressed higher levels of INSR-A, but lower levels of INSR-B. Accordingly, insulin receptor substrate 1 and focal adhesion kinase activation were significantly increased in these women. We conclude that higher INSR-A and lower INSR-B contribute to higher proliferation and lower metabolic response. Thus, differential expression of INSR isoforms represents a potential biological link between BC and diabetes.


Assuntos
Antígenos CD/metabolismo , Neoplasias da Mama/metabolismo , Diabetes Mellitus/metabolismo , Fator de Crescimento Insulin-Like II/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Receptor de Insulina/metabolismo , Transdução de Sinais , Negro ou Afro-Americano , Antígenos CD/biossíntese , Antígenos CD/genética , Mama/metabolismo , Feminino , Proteína-Tirosina Quinases de Adesão Focal/biossíntese , Proteína-Tirosina Quinases de Adesão Focal/metabolismo , Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Humanos , Fator de Crescimento Insulin-Like I/genética , Fator de Crescimento Insulin-Like II/genética , Fosforilação , Isoformas de Proteínas/metabolismo , Receptor de Insulina/biossíntese , Receptor de Insulina/genética , Células Tumorais Cultivadas , População Branca
17.
Neurol Sci ; 32(4): 559-69, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21630036

RESUMO

Often viewed as a potential tool for preclinical diagnosis in early asymptomatic stages of Alzheimer's disease (AD), the term "endophenotype" has acquired a recent popularity in the field. In this review, we analyze the construct of endophenotype-originally designed to discover genes, and examine the literature on potential endophenotypes for the late-onset form of AD (LOAD). We focus on the [18F]-fluoro-2-deoxyglucose (FDG) PET technique, which shows a characteristic pattern of hypometabolism in AD-related regions in asymptomatic carriers of the ApoE E4 allele and in children of AD mothers. We discuss the pathophysiological significance and the positive predictive accuracy of an FDG-endophenotype for LOAD in asymptomatic subjects, and discuss several applications of this endophenotype in the identification of both promoting and protective factors. Finally, we suggest that the term "endophenotype" should be reserved to the study of risk factors, and not to the preclinical diagnosis of LOAD.


Assuntos
Doença de Alzheimer/diagnóstico por imagem , Fluordesoxiglucose F18 , Compostos Radiofarmacêuticos , Doença de Alzheimer/genética , Doença de Alzheimer/fisiopatologia , Causalidade , Endofenótipos , Marcadores Genéticos , Humanos , Fármacos Neuroprotetores/farmacologia , Tomografia por Emissão de Pósitrons
18.
Spinal Cord ; 49(1): 120-4, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20514055

RESUMO

STUDY DESIGN: Prospective cohort design of married persons with new spinal cord injury (SCI). OBJECTIVES: To examine the relationship of demographic and injury characteristics, self-rated health, physical functioning, and life satisfaction to the duration of marriage 1 to 15 years after SCI among individuals who were married at the time of injury. SETTING: United States. METHODS: Survival analysis was chosen to determine the predictors related to marital longevity, which is defined as non-occurrence of divorce after injury. In all, 2327 subjects were included in the analyses. Predictors were demographics and injury characteristics, level of handicap, self-perceived health, and functional independence. RESULTS: Age at injury, being Caucasian vs African American, having a college education vs high school, having 'other' employment status vs being unemployed, having higher social integration and improved or stable self-rated health vs poor health were all significant factors that delayed the time of divorce after injury. Contrary to expectations, level of injury, function, mobility and independence were not significant predictors of marriage longevity. CONCLUSION: Social integration and health perception, the most powerful indicators of marriage longevity, can be addressed and facilitated by health care providers and rehabilitation programs.


Assuntos
Divórcio , Estado Civil , Traumatismos da Medula Espinal/epidemiologia , Cônjuges , Adulto , Estudos de Coortes , Divórcio/psicologia , Conflito Familiar/psicologia , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Traumatismos da Medula Espinal/psicologia , Cônjuges/psicologia , Inquéritos e Questionários/normas
19.
Gut ; 59(7): 975-86, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20581245

RESUMO

Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.


Assuntos
Síndrome de Peutz-Jeghers/diagnóstico , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Criança , Pré-Escolar , Endoscopia Gastrointestinal , Medicina Baseada em Evidências/métodos , Feminino , Neoplasias Gastrointestinais/diagnóstico , Neoplasias dos Genitais Femininos/diagnóstico , Genótipo , Humanos , Assistência de Longa Duração/métodos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Síndrome de Peutz-Jeghers/genética , Síndrome de Peutz-Jeghers/terapia , Fenótipo , Vigilância da População/métodos , Adulto Jovem
20.
Acta Ortop Mex ; 35(4): 354-358, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-35139595

RESUMO

INTRODUCTION: The Single Assessment Numeric Evaluation (SANE) score is a brief method of evaluating patients' perception of the shoulder joint and has proven high correlation with other outcome measures that are more lengthy and time-consuming in daily practice. The SANE score to date has not been validated in Spanish. OBJECTIVE: To translate, adapt, and validate the SANE score in Spanish. MATERIAL AND METHODS: An initial translation and counter-translation was conducted by two bilingual evaluators and an official translator. Content validity was evaluated by a group of experts in shoulder surgery. The criteria validity was determined by determining correlation with the previously translated and validated ASES score. Reliability of the test was determined. RESULTS: 113 patients were evaluated, with an average age of 53.6 being 56% female. The most frequent diagnosis was rotator cuff syndrome in 78.6% followed by frozen shoulder, glenohumeral and acromioclavicular osteoarthritis and shoulder instability and acromioclavicular dislocation. Correlation between the SANE and ASES results was 0.699. The test was highly reliable with an intraclass correlation coefficient of 0.86. CONCLUSION: The SANE score is a valid and reliable patient centered outcome measure that has a good correlation with other previously validated scores in Spanish that are less practical. We present a translated valid version of the SANE score in Spanish that can be used as a patient reported outcome measure for shoulder pathologies.


INTRODUCCIÓN: La evaluación SANE (Single Assessment Numeric Evaluation) es un tipo de desenlace reportado por el paciente, corto y fácil de administrar que se correlaciona con otras evaluaciones funcionales del hombro más extensas. Hasta la fecha no se encuentra validada en nuestra lengua. OBJETIVO: Traducir, validar y adaptar la evaluación SANE al idioma español. MATERIAL Y MÉTODOS: Se realizó la traducción y contra-traducción por dos evaluadores expertos bilingües y un traductor oficial. Se determinó la validez de constructo con un grupo de expertos en cirugía de hombro, la validez de criterio con la escala de American Shoulder and Elbow Surgeons (ASES) previamente validada en español y la reproducibilidad de la prueba. RESULTADOS: Se evaluaron 113 pacientes con un promedio de edad de 53.6 años, siendo 56% mujeres. El diagnóstico más frecuente fue síndrome de manguito rotador en un 78.6% seguido por artrosis glenohumeral y acromioclavicular, hombro congelado e inestabilidad del hombro. El índice de correlación de Pearson entre el SANE y el ASES fue de 0.699. La reproducibilidad de la prueba fue alta con un coeficiente de correlación intraclase de 0.86. CONCLUSIONES: La evaluación SANE es una medida de desenlace centrada en el paciente fiable y válida, que tiene una buena correlación con puntajes funcionales previamente validados al español más extensos. Se presenta la versión traducida y adaptada al español, que puede ser utilizada como medida de desenlace para intervenciones quirúrgicas o no quirúrgicas en patologías de hombro.


Assuntos
Instabilidade Articular , Lesões do Manguito Rotador , Articulação do Ombro , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Lesões do Manguito Rotador/cirurgia , Ombro , Resultado do Tratamento
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