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BACKGROUND AND AIM: Over the last decades advances in understanding the molecular bases of the close relationship between nutrition, metabolism, and diseases have been impressive. However, there are always novel frontiers coming up and epigenetics is one of these. Sirtuins, are pivotal factors in the control of metabolic pathways according to nutrient availability. In the present study we evaluated the effect of nutrient deprivation on expression, DNA methylation and chromatin status of the sirtuin genes. METHODS AND RESULTS: We performed these studies in mouse hepatoma cells, that were grown in standard medium, or in media containing low glucose concentration, or no glucose, or no amino acids. We applied quantitative real-time PCR to cDNA, methylation-enriched DNA and nuclease-treated DNA in order to evaluate gene expression, DNA methylation, and chromatin condensation, respectively. This study shows that the expression of sirtuin genes varies following nutrient deprivation. Moreover, we observed that changes of DNA methylation and chromatin condensation occur at the transcription start site of sirtuin genes following nutrient deprivation. CONCLUSIONS: Epigenetic mechanisms may have a role in the sirtuin response to nutrient deprivations in cultured hepatoma cells. Replicating these results in vivo to achieve a comprehensive understanding of the epigenetic control of sirtuin expression following nutrient deprivations might open up novel therapeutic possibilities to cure metabolic diseases and promote human health.
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Aminoácidos/deficiência , Metilação de DNA , Epigênese Genética , Glucose/deficiência , Hepatócitos/enzimologia , Sirtuínas/genética , Sirtuínas/metabolismo , Animais , Restrição Calórica , Linhagem Celular Tumoral , Montagem e Desmontagem da Cromatina , Regulação Enzimológica da Expressão Gênica , Camundongos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transcrição Gênica , TranscriptomaRESUMO
INTRODUCTION AND HYPOTHESIS: The aim of the study was to exclude neurovascular damage due to prosthetic mini-invasive surgery using transobturator tape (TOT) by pre- and postoperative electromyography (EMG) of the striated urethral sphincter and a color Doppler ultrasonography evaluation of clitoral blood flow. METHODS: A total of 25 women affected by clinical stress urinary incontinence (SUI) were enrolled. After undergoing urodynamic assessment, pelvic organ prolapse quantification, urine culture, Q-tip test, and stress test, each subject underwent color Doppler ultrasonography to record clitoral blood flow and EMG of the urethral sphincter with a needle electrode inserted through the mucosa into the muscle tissue before surgery. A single urogynecologist performed the TOT surgical technique for the treatment of all patients. Urogynecologic examination, EMG, and color Doppler ultrasound follow-up were performed at 1 and 6 months after surgery. RESULTS: At the urogynecologic examination performed 1 and 6 months after the TOT approach the stress test was negative, urethral hypermobility was reduced, and sling exposure was not observed for each patient. There was no statistically significant difference in electromyographic values (p > 0.05) in both the follow-ups with regard to baseline values. Pulsatility index (PI), resistance index (RI), and peak systolic velocity (PSV) values increased during the first follow-up (p < 0.01); PI and RI values increased during the second follow-up with respect to baseline values (p < 0.01) CONCLUSIONS: TOT prosthesis surgery, avoiding denervation and devascularization of pelvic structures, does not damage the urethral sphincter.
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Clitóris/irrigação sanguínea , Procedimentos Cirúrgicos em Ginecologia/efeitos adversos , Slings Suburetrais/efeitos adversos , Uretra/inervação , Incontinência Urinária por Estresse/cirurgia , Adulto , Clitóris/diagnóstico por imagem , Eletromiografia , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Fluxo Sanguíneo Regional , Sexualidade , Ultrassonografia Doppler em CoresRESUMO
Loss of dopaminergic neurons in the substantia nigra pars compacta (SNc) and a profound reduction of striatal dopamine are two hallmarks of Parkinson's disease (PD). However, it's unclear whether degeneration starts at the neuronal soma or the striatal presynaptic terminals, and how microstructural degeneration is linked to dopaminergic loss is also uncertain. In this study, thirty de novo PD patients and twenty healthy subjects (HS) underwent 6-[18F]-fluoro-L-dopa (FDOPA) PET and MRI studies no later than 12 months from clinical diagnosis. FDOPA uptake rate (Ki), fractional volume of free-water (FW), and iron-sensitive R2* relaxometry were quantified within nigrostriatal regions. Inter-group differences (PD vs HS) were studied using non-parametric statistics and complemented with Cohen's d effect sizes and Bayesian statistics. Correlation analyses were performed exploring biomarker dependencies and their association with bradykinesia scores. PD patients exhibited a significant decline in nigrostriatal dopaminergic activity, being post-commissural putamen (-67%) and posterolateral SNc (-11.7%) the most affected subregions within striatum and SNc respectively. Microstructural alterations (FW) were restricted to the hemisphere corresponding to the most affected side and followed similar spatial gradients as FDOPA Ki (+20% in posterior putamen and +11% in posterolateral SNc). R2* revealed no relevant significant changes. FDOPA and FW were correlated within the posterolateral SNc, and clinical severity was associated with FDOPA Ki loss. The asymmetry between striatal and SNc changes for both dopaminergic depletion and microstructural degeneration biomarkers is consistent with a neurodegenerative process that begins in the striatal terminals before progressing toward the cell bodies in the SNc.
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INTRODUCTION: New technologies are increasingly widespread in biomedicine. Using the consensus definition of new technologies established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN. MATERIAL AND METHODS: We defined the concept of new technology in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN's annual meetings from 2012 to 2018, analysing the type of technology, the field of neurology, and the geographical provenance of the studies. RESULTS: We identified 299 communications related with new technologies from a total of 8139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where new technologies were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to new technologies (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%). CONCLUSIONS: The number of communications addressing new technologies follows an upward trend. The number of technologies used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.
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Transtornos Cerebrovasculares , Transtornos dos Movimentos , Neurologia , Humanos , Espanha , SociedadesRESUMO
AIM: The aims of this study were: To evaluate oral health conditions, oral health behaviours and eating habits in Wilson's disease (WD) patients; to assess the possible relationship between oral health status and long-term pharmacological therapies undertaken. METHODS: Sixty WD patients were selected and their data were compared to those of an age-matched control group of 62 subjects. Clinical examinations were carried out and a questionnaire on oral health behaviours and eating habits was submitted to both groups. WD patients were interviewed on long-term pharmacological therapies undertaken. Statistical analysis was performed. RESULTS: The mean DMFT value was 3.75±4.65 in the WD group and 2.81±4.65 in the control group. The difference in the mean DMFT value between the two groups was not statistically significant. Modified Dental Enamel Defects (DDE) Index showed significantly higher values in WD group than in control group. No statistical differences in Visible Plaque Index (VPI), Gingival Bleeding Index (GBI) and malocclusions were observed between groups. In relation to the questionnaire, the differences between groups were statistically significant for: dental visits in a year; brushing teeth after a snack; drinking soft beverages; using mouthwash. For WD patients no statistical correlation between oral health status and long-term pharmacological therapies undertaken was observed. CONCLUSION: WD patients did not show worse oral health conditions than the control group, despite worse oral health behaviours and eating habits. Nerveless, WD patients showed higher presence of dental enamel defects. Finally, for WD group oral health status was not correlated to the long-term pharmacological therapies.
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Degeneração Hepatolenticular , Saúde Bucal , Índice de Placa Dentária , Comportamento Alimentar , Humanos , Escovação DentáriaRESUMO
INTRODUCTION: New technologies (NT) are increasingly widespread in biomedicine. Using the consensus definition of NT established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN. MATERIAL AND METHODS: We defined the concept of NT in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN's annual meetings from 2012 to 2018, analysing the type of NT, the field of neurology, and the geographical provenance of the studies. RESULTS: We identified 299 communications related with NT from a total of 8,139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where NT were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to NT (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%). CONCLUSIONS: The number of communications addressing NT follows an upward trend. The number of NT used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.
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Spatial organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes. Both diseases are caused by defects related to DNA methylation machinery, with Rett syndrome affecting the transduction of the repressive signal from the methyl CpG binding protein prototype, MeCP2, and ICF syndrome affecting the genetic control of DNA methylation, by the DNA methyltransferase DNMT3B. Rather than listing survey data, our aim is to highlight how a deeper comprehension of gene regulatory web may arise from studies of such pathologies. We also maintain that fundamental studies may offer chances for a therapeutic approach focused on these syndromes, which, in turn, may become paradigmatic for this increasing class of diseases.
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Anormalidades Múltiplas/genética , Cromatina/metabolismo , Síndromes de Imunodeficiência/genética , Síndrome de Rett/genética , Cromatina/química , Aberrações Cromossômicas , Metilação de DNA , Assimetria Facial/genética , Humanos , Modelos Moleculares , Síndrome de Rett/metabolismo , SíndromeRESUMO
Introducción: Las nuevas tecnologías (NT) están cada vez más presentes en el ámbito biomédico. Utilizando la definición de consenso de NT del Comité Ad-Hoc de Nuevas Tecnologías de la Sociedad Española de Neurología (SEN), se evalúa su impacto en la neurología española a través de las comunicaciones de las reuniones anuales de la SEN. Material y métodos: Se define el concepto de NT en neurología como una tecnología novedosa o aplicación de una tecnología anterior, caracterizada por un cierto grado de coherencia persistente en el tiempo, con potencial de tener impacto en el presente y futuro de la neurología. Se plantea un estudio descriptivo tomando como fuente las comunicaciones de las reuniones de la SEN desde 2012 hasta 2018 y analizando los tipos de NT empleadas, la subespecialidad, así como su distribución territorial. Resultados: De las 8.139 comunicaciones presentadas, 299 estaban relacionadas con NT (3,7%), incluyendo 120 pósteres y 179 comunicaciones orales, variando desde el 1,6% en 2012 hasta el 6,8% en 2018. Los tipos de tecnología mayormente representados fueron neuroimagen avanzada (24,7%), biosensores (17,1%), electrofisiología y neuroestimulación (14,7%) y telemedicina (13,7%). Las áreas neurológicas con mayor empleo de NT fueron trastornos del movimiento (18,4%), enfermedades cerebrovasculares (15,7%) y demencias (13,4%). Madrid fue la comunidad que presentó más comunicaciones (32,8%), seguida por Cataluña (26,8%) y Andalucía (9,0%). Conclusiones: Las comunicaciones sobre NT siguen una tendencia creciente. El número de NT empleadas ha ido aumentando de manera paralela a la disponibilidad tecnológica. Se encontraron comunicaciones en todas las subespecialidades neurológicas, con una distribución geográfica heterogénea.(AU)
Introduction: New technologies (NT) are increasingly widespread in biomedicine. Using the consensus definition of NT established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN. Material and methods: We defined the concept of NT in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN's annual meetings from 2012 to 2018, analysing the type of NT, the field of neurology, and the geographical provenance of the studies. Results: We identified 299 communications related with NT from a total of 8,139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where NT were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to NT (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%). Conclusions: The number of communications addressing NT follows an upward trend. The number of NT used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.(AU)
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Humanos , Neurologia/tendências , Invenções/classificação , Invenções/história , Avaliação da Tecnologia Biomédica , Tecnologia Biomédica , EspanhaRESUMO
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Parkinson's disease (PD) is a slowly progressing neurodegenerative disease with early manifestation of motor signs. Objective measurements of motor signs are of vital importance for diagnosing, monitoring and developing disease modifying therapies, particularly for the early stages of the disease when putative neuroprotective treatments could stop neurodegeneration. Current medical practice has limited tools to routinely monitor PD motor signs with enough frequency and without undue burden for patients and the healthcare system. In this paper, we present data indicating that the routine interaction with computer keyboards can be used to detect motor signs in the early stages of PD. We explore a solution that measures the key hold times (the time required to press and release a key) during the normal use of a computer without any change in hardware and converts it to a PD motor index. This is achieved by the automatic discovery of patterns in the time series of key hold times using an ensemble regression algorithm. This new approach discriminated early PD groups from controls with an AUC = 0.81 (n = 42/43; mean age = 59.0/60.1; women = 43%/60%;PD/controls). The performance was comparable or better than two other quantitative motor performance tests used clinically: alternating finger tapping (AUC = 0.75) and single key tapping (AUC = 0.61).
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Modelos Biológicos , Atividade Motora , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Interface Usuário-Computador , HumanosRESUMO
BACKGROUND: Although thyroid hormone (TH) exerts relevant effects on the cardiovascular system, it is unknown whether TH also regulates vascular reactivity in humans. Methods and Results- We studied 8 patients with hyperthyroidism, basally (H) and 6 months after euthyroidism was restored by methimazole (EU). Thirteen healthy subjects served as control subjects (C). We measured forearm blood flow (FBF) by strain-gauge plethysmography during intrabrachial graded infusion of acetylcholine, sodium nitroprusside (SNP), norepinephrine, and L-NMMA (inhibitor of NO synthesis). Basal FBF (in mL. dL(-1). min(-1)) was markedly higher in H than in C (5.8+/-1.2 and 1.9+/-0.1, respectively; P<0.001) and was close to normal in EU (2.6+/-0.3, P<0.01 versus H). During acetylcholine infusion, FBF increased much more in H (+33+/-5) than in C (+14+/-3, P<0.01 versus H) and in EU (+20+/-5, P=0.01 versus H and P=NS versus C). In contrast, the response to SNP infusion was comparable in the patients and control subjects. During norepinephrine infusion, the fall in FBF was much more pronounced in H (-6+/-1) than in C (-0.7+/-0.3, P<0.005 versus H) and in EU (-1.5+/-0.3, P<0.01 versus H). Finally, inhibition of NO synthesis by L-NMMA decreased FBF by 2.8+/-0.6, 0.61+/-0.7, and 1.4+/-0.3 in H, C, and EU, respectively (H versus C and EU, P<0.05). CONCLUSIONS: In hyperthyroidism, (1) the marked basal vasodilation is largely accounted for by excessive endothelial NO production, (2) vascular reactivity is exaggerated because of enhanced sensitivity of the endothelial component, (3) the vasoconstrictory response to norepinephrine is potentiated, and (4) this abnormal vascular profile is corrected when euthyroidism is restored by medical therapy. The data demonstrate that vascular endothelium is a specific target of TH.
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Endotélio Vascular/fisiopatologia , Hipertireoidismo/fisiopatologia , Acetilcolina/farmacologia , Adulto , Relação Dose-Resposta a Droga , Endotélio Vascular/efeitos dos fármacos , Inibidores Enzimáticos/farmacologia , Feminino , Antebraço/irrigação sanguínea , Humanos , Infusões Intra-Arteriais , Masculino , Óxido Nítrico Sintase/antagonistas & inibidores , Nitroprussiato/farmacologia , Norepinefrina/farmacologia , Fluxo Sanguíneo Regional/efeitos dos fármacos , Vasoconstritores/farmacologia , Vasodilatadores/farmacologia , ômega-N-Metilarginina/farmacologiaRESUMO
BACKGROUND: The reason why patients with growth hormone (GH) deficiency (GHD) are at increased risk for premature cardiovascular death is still unclear. Although a variety of vascular risk factors have been identified in GHD, little is known regarding vascular reactivity and its contribution to premature arteriosclerosis. METHODS AND RESULTS: We assessed vascular function in 7 childhood-onset, GH-deficient nontreated patients (age 22+/-3 years, body mass index [BMI] 25+/-1 kg/m(2)) and 10 healthy subjects (age 24+/-0.4 years, BMI 22+/-1 kg/m(2)) by using strain gauge plethysmography to measure forearm blood flow in response to vasodilatory agents. The increase in forearm blood flow to intrabrachial infusion of the endothelium-dependent vasodilator acetylcholine was significantly lower in GH-deficient nontreated patients than in control subjects (P:<0.05). Likewise, forearm release of nitrite and cGMP during acetylcholine stimulation was reduced in GH-deficient nontreated patients (P:<0.05 and P:<0.002 versus controls). The response to the endothelium-independent vasodilator sodium nitroprusside was also markedly blunted in GH-deficient patients compared with control subjects (P:<0.005). To confirm that abnormal vascular reactivity was due to GHD, we also studied 8 patients with childhood-onset GHD (age 31+/-2 years, BMI 24+/-1 kg/m(2)) who were receiving stable GH replacement therapy. In these patients, the response to both endothelium-dependent and -independent vasodilators, as well as forearm nitrite and cGMP, release was not different from that observed in normal subjects. Peak hyperemic response to 5-minute forearm ischemia was significantly reduced in GH-deficient nontreated patients (17.2+/-2.6 mL x dL(-1) x min(-1), P:<0.01) but not in GH-treated patients (24.8+/-3.3 mL x dL(-1) x min(-1)) compared with normal subjects (29.5+/-3.2 mL x dL(-1) x min(-1)). CONCLUSIONS: The data support the concept that GH plays an important role in the maintenance of a normal vascular function in humans.
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Vasos Sanguíneos/fisiopatologia , Hormônio do Crescimento/deficiência , Acetilcolina/farmacologia , Adulto , Velocidade do Fluxo Sanguíneo/efeitos dos fármacos , Pressão Sanguínea/efeitos dos fármacos , Vasos Sanguíneos/efeitos dos fármacos , GMP Cíclico/sangue , Relação Dose-Resposta a Droga , Feminino , Antebraço/irrigação sanguínea , Hormônio do Crescimento/uso terapêutico , Terapia de Reposição Hormonal , Humanos , Isquemia/fisiopatologia , Masculino , Nitritos/sangue , Nitroprussiato/farmacologia , Vasodilatadores/farmacologiaRESUMO
INTRODUCTION AND RESULTS: Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive disease, characterized by severe hypomethylation in pericentromeric regions of chromosomes (1, 16 and 9), marked immunodeficiency and facial anomalies. The majority of ICF patients present mutations in the DNMT3B gene, affecting the DNA methyltransferase activity of the protein. In the present study, we have used the Infinium 450K DNA methylation array to evaluate the methylation level of 450,000 CpGs in lymphoblastoid cell lines and untrasformed fibroblasts derived from ICF patients and healthy donors. Our results demonstrate that ICF-specific DNMT3B variants A603T/STP807ins and V699G/R54X cause global DNA hypomethylation compared to wild-type protein. We identified 181 novel differentially methylated positions (DMPs) including subtelomeric and intrachromosomic regions, outside the classical ICF-related pericentromeric hypomethylated positions. Interestingly, these sites were mainly located in intergenic regions and inside the CpG islands. Among the identified hypomethylated CpG-island associated genes, we confirmed the overexpression of three selected genes, BOLL, SYCP2 and NCRNA00221, in ICF compared to healthy controls, which are supposed to be expressed in germ line and silenced in somatic tissues. CONCLUSIONS: In conclusion, this study contributes in clarifying the direct relationship between DNA methylation defect and gene expression impairment in ICF syndrome, identifying novel direct target genes of DNMT3B. A high percentage of the DMPs are located in the subtelomeric regions, indicating a specific role of DNMT3B in methylating these chromosomal sites. Therefore, we provide further evidence that hypomethylation in specific non-pericentromeric regions of chromosomes might be involved in the molecular pathogenesis of ICF syndrome. The detection of DNA hypomethylation at BOLL, SYCP2 and NCRNA00221 may pave the way for the development of specific clinical biomarkers with the aim to facilitate the identification of ICF patients.
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Centrômero/genética , Metilação de DNA/genética , Genoma Humano , Síndromes de Imunodeficiência/genética , Estudos de Casos e Controles , Linhagem Celular , Cromossomos Humanos/genética , Ilhas de CpG/genética , DNA (Citosina-5-)-Metiltransferases/genética , Feminino , Regulação da Expressão Gênica , Variação Genética , Humanos , Masculino , Regiões Promotoras Genéticas/genética , Reprodutibilidade dos Testes , Análise de Sequência de DNA , DNA Metiltransferase 3BRESUMO
STSs, which have been used to build and format clone contigs, have been used here to assemble a transcriptional map across a cytogenetic band. Of fifty one STSs in Xq28, 20 were positive by RT-PCR. Thus, an additional 20 possible ESTs were detected among the STSs, and seven of these also identified cDNAs in at least one library. The transcripts confirm the high expression level of this region, correlated with its GC compositional map and CpG island content.
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Sitios de Sequências Rotuladas , Transcrição Gênica , Cromossomo X , Sequência de Bases , Northern Blotting , DNA Complementar , Expressão Gênica , Humanos , Dados de Sequência Molecular , Homologia de Sequência do Ácido NucleicoRESUMO
SYBL1 is a gene in the 320kb human pseudo-autosomal region at the terminus of Xq and Yq. In contrast to other pseudoautosomal genes, SYBL1 is inactivated on one X in every female cell, and is also inactive on the Y of male cells. Hypermethylation of the CpG island associated with the human gene is involved in this phenomenon. In an attempt to further examine its regulation, the genomic organization of the X-linked mouse Sybl1 homolog was analyzed and compared with the human gene. Human and mouse show the same exon number, exon-intron junctions and a highly conserved basal promoter. The structural and functional conservation of basal regulatory regions suggests that inactivation is imposed by similar auxiliary epistatic regulatory mechanism.
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Genes/genética , Proteínas de Membrana/genética , Animais , Sequência de Bases , Sítios de Ligação , Northern Blotting , Cloranfenicol O-Acetiltransferase/genética , Cloranfenicol O-Acetiltransferase/metabolismo , DNA/química , DNA/genética , Éxons , Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Células HeLa , Humanos , Íntrons , Masculino , Camundongos , Dados de Sequência Molecular , Regiões Promotoras Genéticas/genética , Proteínas R-SNARE , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Sequências Reguladoras de Ácido Nucleico/genética , Análise de Sequência de DNA , Homologia de Sequência do Ácido Nucleico , Distribuição Tecidual , Transcrição GênicaRESUMO
Hepatocellular carcinoma (HCC) is a malignant tumor with a marked tendency to spread through the portal system. Metastases from HCC usually involve lungs, surrenal glands, the skeletal and gastroenteric systems, spleen, heart and kidneys. Secondary localizations to the mandible are rare. Generally, bone metastases from HCC appear as osteolytic lesions more likely localized to the ribs, spine, femor, omer, sternum, and then to the mandible. Mandibular metastatic HCC is hemorrhagic in nature because of its hypervascularity. Any diagnostic maneuver that could end in bleeding should be avoided. Non-invasive diagnostic procedures such as computer tomography (CT) scan should be preferred. Among the invasive diagnostic procedures, only fine needle biopsy should be attempted and palliative radiotherapy could be useful for the control of local symptoms. A case report of a hemorrhagic mandibular metastatic HCC that had to be treated surgically, in order to control the severe and profuse bleeding, is presented.
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Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Neoplasias Mandibulares/secundário , Hemorragia Bucal/etiologia , Carcinoma Hepatocelular/complicações , Humanos , Neoplasias Hepáticas/complicações , Masculino , Neoplasias Mandibulares/complicações , Neoplasias Mandibulares/cirurgia , Pessoa de Meia-Idade , Hemorragia Bucal/cirurgiaRESUMO
Pseudothrombocytopenia (PTCP) is the consequence of an EDTA-activated platelet agglutination, resulting in a spuriously low platelet count. We report the case of a 54-year-old man with EDTA-dependent PTCP associated with liver cirrhosis. He couldn't undergo endoscopic examination and dental care for two years because of a previous diagnosis of severe thrombocytopenia secondary to liver cirrhosis. Lack of PTCP recognition may lead the physician to misdiagnosis and mismanagement of the patient.
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Anticoagulantes/efeitos adversos , Ácido Edético/efeitos adversos , Cirrose Hepática/sangue , Trombocitopenia/induzido quimicamente , Humanos , Masculino , Pessoa de Meia-Idade , Contagem de Plaquetas/efeitos dos fármacosRESUMO
A case of silicosis associated with Crohn's disease is reported. Symptoms, radiological and endoscopical findings suggested Crohn's disease in a man, who had worked as ceramist and in whom silicosis was diagnosed four years earlier. The authors, after presenting the clinical and diagnostic features of the patient, discuss the similarity of some pathogenetic features of the two diseases. They hypothesize a common pathogenetic immunological defect in the two diseases, probably caused by inhalation of silica.
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Doença de Crohn/etiologia , Silicose/complicações , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A patient with Marfan syndrome and Schoenlein-Henoch purpura is reported. The diagnosis has been possible only by clinical criteria because no laboratory test is available to support the clinical impressions. Possible initial diagnostic confusion with other purpuric disorders is discussed.
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Vasculite por IgA/complicações , Síndrome de Marfan/complicações , Adolescente , Diagnóstico Diferencial , Humanos , Vasculite por IgA/diagnóstico , MasculinoRESUMO
The authors evaluated the efficacy and safety of an OPAT program in a small group of patients affected by infective endocarditis. Three patients were considered eligible for the treatment; i.e. they had a stable hemodynamic balance and no embolic events. Streptococcus spp. grew in blood cultures of two patients, while blood cultures were negative in the third patient. Long-acting antibiotics were used and all patients recovered from the infection without adverse events. The treatment was efficacious and safe. This preliminary experience suggests that OPAT programs can be promoted in infective endocarditis with advantage. Strictness and caution are necessary in screening and monitoring patients.