Effect of CRHR1 and CRHR2 gene polymorphisms and childhood trauma in suicide attempt.

Family, twin, and adoption studies have suggested that genetic factors might be involved in suicidal behavior. Corticotropin-releasing receptor type 1 (CRHR1) and 2 (CRHR2) genes play a key role in the activation and modulation of the hypothalamic-pituitary-adrenal (HPA) axis, which is considered a major stress regulator. Childhood trauma is an environmental risk factor associated with suicide attempt (SA) and it has been related to HPA axis dysregulation. This study aimed at analyzing the relationship of CRHR1 and CRHR2 genes with childhood trauma concerning the development of SA. In this study, we included 366 affective disorder patients. Among them, 183 patients had SA at least once and 183 had not SA. Information regarding SA and childhood trauma was obtained from medical records. Multifactor Dimensionality Reduction program was used to detect gene-environment interactions between CRHR1 (rs110402, rs242924, and rs16940665) and CRHR2 (rs2190242, rs2284217, and rs2014663) with childhood trauma in SA. The analysis showed an interaction of CRHR1 and CRHR2 with childhood trauma, thus conferring increased risk of having presented at least one SA (OR 7.44; 95% CI 4.58-12.07; p < 0.0001). In addition, we observed the following in the trauma subtypes analysis: physical negligence (OR 4.72; 95% CI 3.01-7.40; p < 0.0001), emotional abuse (OR 5.76; 95% CI 3.67-9.05; p < 0.0001), and sexual abuse (OR 5.70; 95% CI 3.62-8.97; p < 0.0001). Our results suggested that genetic variants of CRHR1 and CRHR2 genes in addition to physical negligence, and emotional and sexual abuse, contribute to increase risk of presented at least one SA.

Luteoprotective role of equine chorionic gonadotropin (eCG) during pregnancy in the mare.

The effects of repeated cloprostenol administration were compared in mares impregnated by horses and mares impregnated by donkeys in order to assess the role of eCG on the development of pregnancy-associated resistance to the luteolytic and abortifacient effects of PGF2α. Eleven mares impregnated by donkey (mule pregnancy) and 9 mares impregnated by horse (horse pregnancy) were used. Six mares with mule pregnancy and four with horse pregnancy were injected with cloprostenol (0.25 mg) when they were between day 65 and day 75 of pregnancy, and the treatment was repeated 48, 72 and 96 h latter. The rest of the mares remained as controls. Concentrations of eCG were 10 times higher (p < 0.001) in mares impregnated by horses than in mares impregnated by donkeys, and they were not affected by cloprostenol treatment. Luteolysis was completed 30 h after the first cloprostenol injection in mule pregnancies, while mares with horse pregnancies required 96 h and three cloprostenol injections to complete luteolysis. Regression analysis revealed significant associations between eCG concentrations at time 0 and the time required for completion of luteolysis (p < 0.001), foetal death (p < 0.01) and foetal expulsion (p < 0.05). It is concluded that high eCG concentrations in mares impregnated by horses protect the corpora lutea of pregnancy against the luteolytic effects of PGF2α. Low eCG concentrations in mares carrying mule foetuses afford them less protection against the luteolytic effect of PGF2α, and this may be a cause of the increased foetal mortality that occurs between days 60 and 90 of pregnancy in these mares.

Population structure and paternal admixture landscape on present-day Mexican-Mestizos revealed by Y-STR haplotypes.

Mestizos currently represent most of the Mexican population (>90%); they are defined as individuals born in the country having a Spanish-derived last name, with family antecedents of Mexican ancestors back at least to the third generation. Mestizos are result of 500 years of admixture mainly among Spaniards, Amerindians, and African slaves. Consequently, a complex genetic pattern has been generated throughout the country that has been scarcely studied from the paternal point of view. This fact is important, taking into account that gene flow toward the New World comprised largely males. We analyzed the population structure and paternal admixture of present-day Mexican-Mestizo populations based on Y-STRs. We genotyped at least 12 Y-STRs in DNA samples of 986 males from five states: Aguascalientes (n = 293); Jalisco (n = 185); Guanajuato (n = 168); Chiapas (n = 170); and Yucatán (n = 170). AmpFlSTR Y-filer and Powerplex-Y(R) kits were used. Inclusion of North and Central Y-STR databases in the analyses allowed obtaining a Y-STR variability landscape from Mexico. Results confirmed the population differentiation gradient previously noted in Mestizos with SNPs and autosomal STRs throughout the Mexican territory: European ancestry increments to the Northwest and, correspondingly, Amerindian ancestry increments to the Center and Southeast. In addition, SAMOVA test and Autocorrelation Index for DNA Analysis autocorrelogram plot suggested preferential gene flow of males with neighboring populations in agreement with the isolation-by-distance model. Results are important for disease-risk studies (principally male-related) and for human identification purposes, because Y-STR databases are not available on the majority of Mexican-Mestizo populations.

Sequence analysis of five exons of SLC6A4 gene in Mexican patients with anorexia nervosa and bulimia nervosa.

BACKGROUND: Accumulating evidence indicates that alterations in the serotonin system are related to changes in eating behavior. The serotonin transporter is encoded by the SLC6A4 gene and has been an interesting candidate for anorexia nervosa- restrictive type (AN-R) and bulimia nervosa (BN). Interestingly, functional variants have been identified in the coding region that could contribute to understand the role of this gene in eating disorders. The aim was to identify genetic variants in five exons of SLC6A4 gene using Sanger-sequencing in anorexia nervosa-restrictive and bulimia nervosa patients, and a control group. METHOD: The sample consisted of 86 patients and 50 control subjects. We obtained DNA samples from all subjects and performed Sanger-sequence analysis of the 1, 2, 3, 8 and 9 exons. The sequences were compared with the reference sequence of the SLC6A4 gene. RESULTS: The sequence analysis of the five exons of the gene identified several variants. In the AN-R, we observed two novel variants (g.130delA and c.1740G > A), three synonymous variants (rs57172732, rs55908624, rs74478645) and a missense variant (L90F) reporting a probably deleterious and damaging variant. In BN, we identified two novel variants (g.295C > G and c.1725G > A), and the non-synonymous (rs28914832/I425V), reported as benign. Interestingly, we observed the 425V variant in three patients in the BN, variant that previously was reported in patients with a spectrum obsessive-compulsive disorder. CONCLUSION: The results of our study suggest that variants of the SLC6A4 gene are related with a possible damaging or gain-of-function and may be involved in the susceptibility to AN-R and BN patients. However, the present findings should be considered as preliminary until replicated in large samples.

[Tumors of the small intestine]. / Tumores de intestino delgado.

Small bowel tumors (SBT) are rare neoplasms and represent less than 10% of all gastrointestinal tumors. The majority of them are benign and discovered at the time of autopsy. However of those who present symptoms the majority belong to the group of malignant tumors and require of treatment. The most common histological variety are the adenocarcinoma and the carcinoid tumors. Abdominal pain, intestinal obstruction or gastrointestinal bleeding are the most common clinical complaints. Endoscopy or contrast X-ray examination are the most common forms of diagnosis and surgery remain the best way of treatment chemotherapy or radiotherapy are used in combination with surgery according to the histological diagnosis, the survival depends to the final histological report. A review of the experience at the National Institute of Cancer in Mexico city was performed and 34 patients were found with the diagnosis of SBT of which the majority presented with abdominal pain, nausea, vomiting and abdominal distension. The most common histological diagnosis were the adenocarcinoma (52%) and the leiomyosarcoma (32%). Surgery was the most common form of treatment (73%) of which in 20% distant metastasis was diagnosed. Only nine are alive at the time of the report without recurrent disease with a mean follow up of 7 months. Our experience shows that SBT are rare neoplasms, the majority are diagnosed late but surgery remain the best way of treatment because it can offer the possibility of cure or adequate palliation with derivative procedures.

[Perception of sexuality in women with rheumatic disease: case-control pilot study]. / Percepción de la sexualidad en pacientes con enfermedades reumáticas: estudio piloto de casos y controles.

INTRODUCTION: Rheumatic diseases are characterized by chronic inflammation with systemic involvement and are often accompanied by functional limitation and depression. Their effect on sexual response has been little studied. The objective of the present study was to evaluate perception of sexuality in women with rheumatic disease. PATIENTS AND METHODS: We administered a questionnaire that included general data, socioeconomic aspects, disease characteristics, serum markers of inflammation and measured perception of sexuality, depression traits and self-esteem. RESULTS: Sixteen patients were interviewed, of which nine had rheumatoid arthritis, six had systemic lupus erythematosus and one had psoriatic arthritis. Twentyfive women were selected as controls. All patients were receiving treatment and had a functional class that allowed them to be self-dependent. Patients presented a worse perception of sexuality than controls (p=0.001) with a trend to more depressive traits and lower self-esteem. CONCLUSIONS: Patients with rheumatic disease gain benefits from treatment in terms of quality of life and functionality. Perception of sexuality is affected by chronic inflammatory disease but is independent of the patient's functional class.

Lymphoepithelioma-like anaplastic thyroid carcinoma: report of a case not related to Epstein-Barr virus.

A 68-year-old man developed a rapidly growing thyroid tumor that extended into the retropharyngeal, prevertebral, and perilaryngeal spaces, and eventually invaded the esophagus. The patient was treated with radiotherapy, obtaining a good but incomplete response. The neoplasia was composed of sinctitial sheaths of epithelial cells with large vesicular nuclei, prominent nucleoli, and high mitotic activity. There was abundant lymphoid infiltrate surrounding and invading the cell sheaths. The overall picture was of a lymphoepithelioma, but no evidence of Epstein-Barr virus infection was detected by studies of immunohistochemistry and polymerase chain reaction. We believe this case represents a morphologic variant of anaplastic carcinoma that should be separated from carcinoma showing thymus-like differentiation, a tumor that also resembles lymphoepithelioma but has an indolent course. Ann Diagn Pathol 5:21-24, 2001.

¿Son los AgNOR’s una herramienta útil como marcadores pronósticos de cáncer oral? / Is agNOR´s useful tool as prognostic marker of oral cancer?

Antecedentes. Es necesario contar con herramientas pronósticas para identificar pacientes oncológicos orales de alto riesgo de progresión a estadio terminal. Objetivo. Establecer si el número, forma y tamaño de AgNOR’s se relacionan con el grado de malignidad de carcinomas de células escamosas de cavidad oral (CCECO) y con el tiempo de sobrevida de pacientes oncológicos. Material y métodos. 19 casos de CCECO (Departamento de Patología, Instituto nacional de Cancerología, México), 3 de bajo grado, 7 de grado intermedio y 9 casos de alto grado de malignidad, fueron utilizados. De sus archivos médicos se obtuvieron lo siguientes datos: edad al momento del diagnóstico, género, localización del tumor primario, y tiempo de sobrevida. Del material biológico disponible se obtuvieron cortes seriados a 6 µm que se tiñeron con la técnica de impregnación argéntica para Regiones de Organización Nucleolar de Ploton. De cada caso se determinó la cantidad, tamaño y forma de AgNOR’s. Se formaron grupos de estudio en relación al tiempo de sobrevida: ≤11 meses (8 casos); y ≥12 meses de sobrevida (11 casos); y en relación al promedio de AgNOR’s por núcleo en: ≤8 AgNOR’s (8 casos), y ≥9 AgNOR’s (12 casos). Se utilizaron las pruebas estadística de x2, correlación de Pearson’s, t de student y regresión logística multivariada (p<0,05IC95%). Resultados. Promedio de AgNOr’s por núcleo = 9,05 (±2,01); promedio de tamaño = 3,5 nm. El grupo con ≥9 AgNOR’s se relaciona con CCECO de alto grado de malignidad (p<0,05) pero no con el tiempo de sobrevida. Se sugiere que la cantidad de AgNOR’s puede ser útil como una herramienta auxiliar para identificar CCECO de alto grado de malignidad (AU)

Background. It has been observes an increase in oral cancer cases, therefore it is necessary to have prognostic tools to identify oral cancer patients with high risk to progress to terminal stage. Aim. To establish if AgNOR’s are related to to histological grade of squamous cells carcinoma of oral cavity (SCCOC) and with the survival time of patients suffering SCCOC. Material and Methods. Nineteen archives cases of SCCOC, (Pathology Department, National Institute of cancer, México City), 3 cases of low grade, 7 cases of middle grade, and 9 cases of high grade of malignancy. From medical files it was obtained age at moment of diagnosis, gender, site of primary tumour and time of survival. From biological samples was obtained cut at 6 µm and stained with argental impregnation technique to Nucleolar Organization Regions of Ploton. From each case was determinate amount, size, and shape of AgNOR’s. The cases were grouped in regard to survival in: ≤11 months group (8 cases); and ≥12 months group (11 cases), and in regard to AgNOR’s average in: ≤8 AgNOR’s group (8 cases) and ≥9 AgNOR’s group (12 cases). The follows statistical tests were done: x2, Pearson’s correlation, t student and multivariate logistic regression (p<0.05IC95%). Results. AgNOR’s mean per nuclei = 9.05 (±2.01); AgNOR’s mean size = 3.5 nm. The ≥9 AgNOR’s group was related to high grade SCCOC (p<0.05) but not with survival time. It is suggest that quantity of AgNOR’s could be useful as an auxiliary tool to identify high grade SCCOC (AU)

Percepción de la sexualidad en pacientes con enfermedades reumáticas: estudio piloto de casos y controles / Perception of sexuality in women with rheumatic disease: case-control pilot study

Introducción: Las enfermedades reumáticas se caracterizan por ser problemas inflamatorios crónicos con afección sistémica que frecuentemente se acompañan de limitación funcional y depresión. Su repercusión sobre la respuesta sexual ha sido pobremente estudiada. El objetivo del presente estudio fue evaluar la percepción sexual en mujeres con enfermedad reumática. Pacientes y métodos: Se aplicó un cuestionario que, además de incluir datos generales, aspectos socioeconómicos, características de la enfermedad y marcadores serológicos de inflamación, midió la percepción de la sexualidad por parte de los sujetos, rasgos de depresión y el nivel de autoestima de éstos. Resultados: Se entrevistó a 16 pacientes, 9 de las cuales tenían artritis reumatoide (AR), 6 lupus eritematoso sistémico (LES), 1 artritis psoriásica. Se seleccionó a 25 mujeres sanas como grupo control. Todas las pacientes recibían tratamiento y presentaban una clase funcional que les permitía valerse por sí mismas. Las pacientes presentaron una peor percepción de la sexualidad (p = 0,001), tendiendo a presentar más rasgos de depresión y una menor autoestima que el grupo control. Conclusiones: Los pacientes con enfermedades reumáticas se benefician del tratamiento, al ser éste un adyuvante en su calidad de vida y en su funcionalidad. La percepción de la sexualidad se afecta como parte de la enfermedad inflamatoria crónica, pero es independiente de la clase funcional del paciente(AU)

Introduction: Rheumatic diseases are characterized by chronic inflammation with systemic involvement and are often accompanied by functional limitation and depression. Their effect on sexual response has been little studied. The objective of the present study was to evaluate perception of sexuality in women with rheumatic disease. Patients and methods: We administered a questionnaire that included general data, socioeconomic aspects, disease characteristics, serum markers of inflammation and measured perception of sexuality, depression traits and self-esteem. Results: Sixteen patients were interviewed, of which nine had rheumatoid arthritis, six had systemic lupus erythematosus and one had psoriatic arthritis. Twentyfive women were selected as controls. All patients were receiving treatment and had a functional class that allowed them to be self-dependent. Patients presented a worse perception of sexuality than controls (p = 0.001) with a trend to more depressive traits and lower self-esteem. Conclusions: Patients with rheumatic disease gain benefits from treatment in terms of quality of life and functionality. Perception of sexuality is affected by chronic inflammatory disease but is independent of the patient’s functional class(AU)