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1.
Clin Epigenetics ; 12(1): 85, 2020 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-32539844

RESUMEN

BACKGROUND: Currently the leading cause of global disability, clinical depression is a heterogeneous condition characterised by low mood, anhedonia and cognitive impairments. Its growing incidence among young people, often co-occurring with self-harm, is of particular concern. We recently reported very high rates of depression among first year university students in Northern Ireland, with over 25% meeting the clinical criteria, based on DSM IV. However, the causes of depression in such groups remain unclear, and diagnosis is hampered by a lack of biological markers. The aim of this exploratory study was to examine DNA methylation patterns in saliva samples from individuals with a history of depression and matched healthy controls. RESULTS: From our student subjects who showed evidence of a total lifetime major depressive event (MDE, n = 186) we identified a small but distinct subgroup (n = 30) with higher risk scores on the basis of co-occurrence of self-harm and attempted suicide. Factors conferring elevated risk included being female or non-heterosexual, and intrinsic factors such as emotional suppression and impulsiveness. Saliva samples were collected and a closely matched set of high-risk cases (n = 16) and healthy controls (n = 16) similar in age, gender and smoking status were compared. These showed substantial differences in DNA methylation marks across the genome, specifically in the late cornified envelope (LCE) gene cluster. Gene ontology analysis showed highly significant enrichment for immune response, and in particular genes associated with the inflammatory skin condition psoriasis, which we confirmed using a second bioinformatics approach. We then verified methylation gains at the LCE gene cluster at the epidermal differentiation complex and at MIR4520A/B in our cases in the laboratory, using pyrosequencing. Additionally, we found loss of methylation at the PSORSC13 locus on chromosome 6 by array and pyrosequencing, validating recent findings in brain tissue from people who had died by suicide. Finally, we could show that similar changes in immune gene methylation preceded the onset of depression in an independent cohort of adolescent females. CONCLUSIONS: Our data suggests an immune component to the aetiology of depression in at least a small subgroup of cases, consistent with the accumulating evidence supporting a relationship between inflammation and depression. Additionally, DNA methylation changes at key loci, detected in saliva, may represent a valuable tool for identifying at-risk subjects.


Asunto(s)
Metilación de ADN/genética , Depresión/genética , Epigenoma/genética , Saliva/metabolismo , Estudiantes/psicología , Adolescente , Adulto , Estudios de Casos y Controles , Biología Computacional/métodos , Proteínas Ricas en Prolina del Estrato Córneo/genética , Islas de CpG/genética , Depresión/epidemiología , Depresión/inmunología , Epigenómica/métodos , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Inmunidad/genética , Estudios Longitudinales , Masculino , Familia de Multigenes/genética , Irlanda del Norte/epidemiología , Prevalencia , Estudios Prospectivos , Psoriasis/diagnóstico , Psoriasis/genética , Psoriasis/patología , Saliva/inmunología , Adulto Joven
2.
PLoS One ; 12(12): e0188785, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29236727

RESUMEN

Mental health and behavioural problems are common among students commencing university. University life can be stressful and problems often exacerbate during their course of study, while others develop disorders for the first time. The WHO World Mental Health Surveys International College Student Project aims to conduct longitudinal research to examine and monitor student mental health and wellbeing. The Ulster University Student Wellbeing study, which commenced in September 2015 in Northern Ireland (NI), was conducted as part of this initiative (wave 1, n = 739), using the WMH-CIDI to examine psychopathology. Baseline prevalence rates of lifetime and 12-month mental health and substance disorders, ADHD and suicidality were high, with more than half of new undergraduate students reporting any lifetime disorder. Co-morbidity was common with 19.1% of students experiencing three or more disorders. Logistic regression models revealed that females, those over 21, non-heterosexual students, and those from a lower SES background were more likely to have a range of mental health and behavioural problems. Overall, 10% of new entry students received treatment for emotional problems in the previous year. However, 22.3% of students with problems said they would not seek help. The study provides important information for universities, policy makers and practice, on mental health and wellbeing in young people generally but particularly for students commencing university. The findings will assist in the development and implementation of protection and prevention strategies in the university setting and beyond.


Asunto(s)
Trastornos Mentales , Salud Mental , Adolescente , Adulto , Femenino , Humanos , Masculino , Irlanda del Norte , Adulto Joven
4.
Dis Esophagus ; 11(1): 48-50, 2017 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-29040491

RESUMEN

Although the use of the posterior mediastinum and the stomach as a reconstruction option after esophagectomy has large acceptance all over the world, there are concerns about the potential respiratory impairment it could cause. We prospectively studied 35 patients regarding the forced expiratory volume and vital capacity. The patients were studied preoperatively and between the 45th and 60th postoperative days. The value of both parameters decreased, although they were still within normal clinical ranges. We concluded that this type of reconstruction does not harm the patients regarding the respiratory flow rates.


Asunto(s)
Neoplasias Esofágicas/cirugía , Esofagoplastia/efectos adversos , Esófago/cirugía , Sistema Respiratorio/fisiopatología , Estómago/cirugía , Anciano , Anastomosis Quirúrgica , Esofagectomía , Femenino , Volumen Espiratorio Forzado , Humanos , Masculino , Mediastino , Persona de Mediana Edad , Periodo Posoperatorio , Periodo Preoperatorio , Estudios Prospectivos , Capacidad Vital
5.
Mitochondrial DNA B Resour ; 1(1): 247-249, 2016 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-33644352

RESUMEN

The mitochondrial genome of the coral Porites lobata was sequenced using ezRAD. The assembled genome consists of 18,647 bp, including 13 protein-coding genes, two ribosomal RNA genes and two transfer RNA genes. The gene arrangement was consistent with other scleractinian coral mitochondrial genomes. The sequence was strikingly similar to Porites okinawensis, indicating the necessity for further systematic work to resolve phylogenetic relationships in the genus Porites.

6.
Dis Esophagus ; 21(6): 558-62, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18430187

RESUMEN

SUMMARY: Anastomotic fistula represents one of the frequent causes of postoperative morbidity and mortality following transhiatal esophageal resections. The main etiological factor is the ischemia of the gastric tube created for digestive transit reconstruction. Evidence suggests that per operative hypoperfusion can be maintained or even impaired after the surgery. Several methods have been employed in an attempt to assess the blood perfusion of the gastric flap, but they all pose limitations. However, there is a chronological relationship between perfusion assessments, which are almost exclusively performed per operatively, and the occurrence of a leak, which commonly appears several days after the surgery. The authors have developed a method of gastric perfusion evaluation by single photon emission computed tomography scintigraphy, which corrects that temporal matter, allowing the estimation of postoperative gastric perfusion. It is noninvasive, low cost, and may be applied by the time frame when most fistulas occur. High correlation between the event fistula and the low radiotracer uptake in the group of studied patients could be demonstrated. A role in the research of perfusion evaluation of different types of esophageal reconstruction is suggested.


Asunto(s)
Fístula Esofágica/diagnóstico por imagen , Neoplasias Esofágicas/cirugía , Esofagectomía/efectos adversos , Fístula Gástrica/diagnóstico por imagen , Gastroplastia/efectos adversos , Adulto , Anciano , Estudios de Cohortes , Fístula Esofágica/etiología , Esofagectomía/métodos , Unión Esofagogástrica/cirugía , Femenino , Estudios de Seguimiento , Fístula Gástrica/etiología , Gastroplastia/métodos , Humanos , Masculino , Persona de Mediana Edad , Perfusión/métodos , Estudios Prospectivos , Radioisótopos , Procedimientos de Cirugía Plástica/métodos , Medición de Riesgo , Sensibilidad y Especificidad , Tomografía Computarizada de Emisión de Fotón Único , Resultado del Tratamiento
7.
Dis Esophagus ; 17(4): 307-9, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15569368

RESUMEN

Although the use of the posterior mediastinum and the stomach as a reconstruction option after esophagectomy has wide acceptance, there are concerns about the potential cardiac impairment it could cause. We prospectively studied 27 patients regarding the function and the systolic diameter, diastolic diameter, shortening fraction, ejection fraction and the presence of extrinsic compression. The patients were studied preoperatively and between the 45th and 60th postoperative days. The parameters were still within normal clinical ranges. We concluded that this type of reconstruction does not harm the patients in terms of their cardiac function.


Asunto(s)
Neoplasias Esofágicas/cirugía , Corazón/fisiopatología , Mediastino/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Estómago/cirugía , Adenocarcinoma/cirugía , Anciano , Anastomosis Quirúrgica , Carcinoma de Células Escamosas/cirugía , Diástole/fisiología , Ecocardiografía , Esofagectomía/efectos adversos , Femenino , Estudios de Seguimiento , Corazón/fisiología , Pruebas de Función Cardíaca , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/fisiopatología , Estudios Prospectivos , Volumen Sistólico , Sístole/fisiología
8.
Dis Esophagus ; 16(4): 339-41, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14641301

RESUMEN

The authors present two cases of leiomyoma of the upper esophagus. Both of the cases presented with dysphagia, and one patient complained of pyrosis. An upper gastrointestinal endoscopy showed midesophageal narrowing without mucosal irregularity, suggestive of leiomyoma. The patients were successfully treated by thoracoscopic enucleation of the leiomyoma, using four thoracic trocars. In one patient (Case 1), the azygus vein had to be divided. Both of the patients are asymptomatic in the late-postoperative period.


Asunto(s)
Neoplasias Esofágicas/cirugía , Leiomioma/cirugía , Toracoscopía/métodos , Adulto , Femenino , Humanos , Masculino , Resultado del Tratamiento
9.
Dis Esophagus ; 16(3): 236-8, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14641316

RESUMEN

Esophagectomy is the main option for treatment of esophageal cancer. Among the subjects of surgical interest is the use of anterior versus posterior mediastinum to permit reconstruction of the alimentary tract. We performed postmortem measurements in order to analyze the lengths of both routes. For each route (anterior and posterior) we performed two measurements. The first one was called anatomical route and the second was named as surgical route. Both routes begin at the cricoid cartilage. The anatomical route goes to the celiac axis and the surgical route goes to the gastroduodenal artery. Our results show that in both routes the posterior mediastinum is a shorter way to reach the cervical region.


Asunto(s)
Esofagectomía , Mediastino/anatomía & histología , Adulto , Cadáver , Femenino , Humanos , Masculino
10.
Dis Esophagus ; 11(1): 48-50, 1998 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-9595233

RESUMEN

Although the use of the posterior mediastinum and the stomach as a reconstruction option after esophagectomy has large acceptance all over the world, there are concerns about the potential respiratory impairment it could cause. We prospectively studied 35 patients regarding the forced expiratory volume and vital capacity. The patients were studied preoperatively and between the 45th and 60th postoperative days. The value of both parameters decreased, although they were still within normal clinical ranges. We concluded that this type of reconstruction does not harm the patients regarding the respiratory flow rates.


Asunto(s)
Adenocarcinoma/cirugía , Carcinoma de Células Escamosas/cirugía , Neoplasias Esofágicas/cirugía , Esofagectomía , Pruebas de Función Respiratoria , Estómago/cirugía , Anciano , Volumen Espiratorio Forzado , Humanos , Mediastino/cirugía , Persona de Mediana Edad , Periodo Posoperatorio , Estudios Prospectivos , Capacidad Vital
12.
Arch Med Res ; 27(2): 151-6, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8696057

RESUMEN

In order to improve carrier detection of Duchenne and Becker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/ BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.


Asunto(s)
Tamización de Portadores Genéticos , Distrofias Musculares/diagnóstico , Polimorfismo Genético , Secuencias Repetitivas de Ácidos Nucleicos , Humanos , Masculino , México , Distrofias Musculares/genética , Linaje
13.
Arch Med Res ; 26 Spec No: S69-75, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-8845661

RESUMEN

Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.


Asunto(s)
Enfermedades Genéticas Congénitas/genética , Genética de Población , Neoplasias/genética , Polimorfismo Genético , Adolescente , Adulto , Niño , Preescolar , Femenino , Enfermedades Genéticas Congénitas/etnología , Humanos , Lactante , Masculino , México/etnología , Modelos Genéticos , Neoplasias/etnología
14.
Rev. Col. Bras. Cir ; 11(3): 65-7, 1984.
Artículo en Portugués | LILACS | ID: lil-23371

RESUMEN

Os autores fazem um estudo comparativo entre os resultados dos exames citopatologicos de material obtido por puncao aspirativa, em 105 casos de nodulos isolados da tireoide, com os resultados dos exames anatomopatologicos por inclusao em parafina


Asunto(s)
Humanos , Biopsia con Aguja , Enfermedades de la Tiroides
15.
Rev. AMRIGS ; 27(4): 484-7, 1983.
Artículo en Portugués | LILACS | ID: lil-18274

RESUMEN

Trata-se de um caso raro, num menino de 10 anos que apresentava crises de dor no hipocondrio direito e epigastrico, em consequencia de colecistite aguda. No entanto os exames habitualmente realizados nesta situacao, revelaram-se normais. A suspeita diagnostica de anomalia de forma de vesicula so foi possivel na ocasiao pelo estudo laparoscopico, com o diagnostico definitivo atraves de cirurgia e estudo radiologico transoperatorio. Estes confirmaram a presenca de vesicula com septacao transoperatorio. Estes confirmaram a presenca de vesicula com septacao transversal, com formacao consequente de dois compartimentos isolados e com colecistite aguda no distal. Este tipo de anomalia de forma e extremamente raro. Mais raro ainda e a instalacao concomitante de colecistite aguda. Na literatura existe um caso descrito de colecistite aguda, mas em vesicula dupla


Asunto(s)
Niño , Humanos , Masculino , Colecistitis , Anomalías Congénitas , Vesícula Biliar
16.
Rev. AMRIGS ; 26(1): 27-33, 1982.
Artículo en Portugués | LILACS | ID: lil-8623

RESUMEN

Os autores apresentam sua experiencia com tres casos de cistos isolados de figado, nao parasitado. Abordam o quadro clinico, os meios de diagnostico e a conduta cirurgica. Chamam a atencao para o diagnostico diferencial como o cisto hidatico, especialmente, quando o doente provem de zona endemica


Asunto(s)
Adulto , Persona de Mediana Edad , Humanos , Femenino , Quistes , Hepatopatías , Angiografía , Cintigrafía , Ultrasonido
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