Timing of initiation and duration of feeding rumen-protected choline affects performance of lactating Holstein cows.

Objectives were to evaluate the effects of altering timing of initiating and duration of supplementing rumen-protected choline (RPC) on lactation performance in dairy cows. The hypothesis was that RPC increases yields of milk and milk components, regardless of when supplementation is initiated, and that the effects of supplementing RPC starting prepartum and continuing post-transition would be additive. Cows at 241 ± 2.2 d of gestation were blocked by parity group (49 entering lactation 2, 50 entering lactation >2) and 305-d milk yield and, within block, assigned randomly to 1 of 4 treatments arranged as a 2 × 2 factorial with 2 levels of choline in transition, from 21 d pre- to 21 d postpartum, and 2 levels of choline in post-transition, from 22 to 105 d postpartum. The 2 levels of RPC supplemented were either 0 g/d or 12.9 g/d of choline ion fed as 60 g/d of an RPC product that was top-dressed onto the total mixed ration. Thus, treatments were as follows: NN (n = 25): no choline in transition or post-transition; NC (n = 25): no choline in transition and choline in post-transition; CN (n = 25): choline in transition and no choline in post-transition; CC (n = 24): choline in transition and in post-transition. Prepartum, treatments were supplemented (mean ± SD) for the last 18.8 ± 5.7 and 19.2 ± 5.0 d of gestation in treatments with 0 or 12.9 g/d of choline ion, respectively. Supplementing RPC prepartum did not affect dry matter intake (DMI), body weight (BW), or body condition score (BCS) in the last 3 weeks of gestation. Likewise, RPC did not affect the yield or the composition of colostrum. Supplementation with RPC during transition increased fat percent by 0.02 percentage units, fat yield by 0.16 kg/d, and energy-corrected milk (ECM) by 3.1 kg/d in the first 21 d postpartum, and increased fat yield by 0.10 kg/d and ECM by 2.4 kg/d from 22 to 105 d postpartum. Supplementing RPC during transition did not affect DMI postpartum, but it improved feed efficiency, and cows produced 0.11 kg/d more ECM per kg of DMI. Changes in BW and BCS during the first 21 d postpartum did not differ between treatments. Cows fed RPC during transition had more negative net energy balance and 0.1 unit smaller BCS in the first 105 d postpartum than non-supplemented cows. Supplementing RPC in post-transition did not influence productive performance in dairy cows, and choline supplementation during transition or post-transition did not affect measures of reproduction. Collectively, supplementing RPC to supply 12.9 g/d of choline ion benefited productive performance in dairy cows when supplementation occurred during the transition period, but no additional benefit was observed from supplementing RPC past 22 d postpartum.

Ansiedad, depresión, estrés y organización de la personalidad en estudiantes novatos de medicina y enfermería / Anxiety, depression, stress and personality organization in medical and nursing freshmen

Introduction: The Health students are likely to experience anxiety, depression and stress freshman year, affecting their performance and adaptation. The scant evidence of the relationship between personality like dispositional-condition with the above symptoms, limited understanding of this phenomenon in the studied sample. Objective: To establish the relationship of the dimensions of personality, anxiety, depression and stress freshmen in medical and nursing. Method: We surveyed the Kernberg inventory of personality organization and scale of depression, anxiety and stress, to a sample of 110 university/as first-year medical and nursing schools, three universities of La Serena and Coquimbo, data thrown by two instruments were correlated using r Pearson’s. Results: It was found correlation between all dimensions of personality organization, with anxiety, depression and stress. In addition, 47 percent have anxiety, depression 28 percent and 44 percent stress amid a severe ranges. A 65 percent rate with borderline personality structure where two dimensions of personality have high values. Conclusion: It is found that the greater integration of the personality, the lower the level of anxiety, depression and stress, Since it is proposed to evaluate early both conditions would guide remedial actions that favor the development of these students early stages of the learning process moreover the discussion arises around being considered to evaluate behaviors entries in the selection process to the races.

Introducción: Los estudiantes de salud están proclives a presentar ansiedad, depresión y estrés en el primer año de carrera, afectándose su desempeño y adaptación. La escasa evidencia de la relación entre la personalidad -como condición disposicional- con los síntomas antes mencionados, limita la comprensión de este fenómeno en la muestra estudiada. Objetivo: Establecer la relación de las dimensiones de personalidad, con la ansiedad, depresión y estrés en estudiantes de primer año de medicina y enfermería. Método: Se encuestó con el inventario de organización de personalidad de Kernbergy la escala de depresión, ansiedad y estrés, a una muestra de 110 universitarios/as de primer año de medicina y enfermería, de tres universidades de La Serena y Coquimbo, los datos arrojados por ambos instrumentos se correlacionaron usando r de Pearson. Resultados: Se encontró correlación entre todas las dimensiones de organización de la personalidad, con la ansiedad, depresión y estrés. Además, un 47 por ciento presenta ansiedad, 28 por ciento depresión y 44 por ciento estrés, en rangos medio a muy severo. Un 65 por ciento califica con estructura de personalidad limítrofe donde dos dimensiones de personalidad presentan valores altos. Conclusión: Se constata que a mayor integración de la personalidad, menor es el nivel de ansiedad, depresión y estrés, A partir de ello se propone que evaluar tempranamente ambas condiciones permitiría orientar acciones paliativas que favorezcan el desarrollo de estos estudiantes en etapas iniciales del proceso formativo, por otra parte, se plantea la discusión en torno a ser consideradas conductas de entradas a evaluar en los procesos de selección a las carreras.

La problemática de la violencia contra la mujer en el marco de los derechos humanos: el caso de Tucumán / The problem of violence against women within the framework of human rights: the case of Tucumán

INTRODUCCIÓN La violencia contra las mujeres es un problema de Salud Pública por sus diferentes formas de presentación, así como por las consecuencias que tiene sobre la salud y por el costo de vidas humanas que ocasiona. OBJETIVOS Analizar el tipo de articulación y las interrelaciones existentes en las instituciones que, a nivel nacional y en Tucumán, apuntan a prevenir y asistir en problemáticas vinculadas a la violencia hacia la mujer en el ámbito doméstico. Describir y analizar el encuadre jurídico, así como los dispositivos institucionales implementados y los equipos profesionales que se desempeñan en efectores públicos. MÉTODOS se utilizó un diseño de tipo descriptivo exploratorio, que posibilitó el abordaje cualitativo e incluyó técnicas de investigación poco intrusivas, que dieron cuenta de la perspectiva de los actores. Se realizaron entrevistas semiestructuradas. RESULTADOS Los dispositivos implementados fueron entrevistas individuales y familiares, visitas domiciliarias, elaboración de informes sociales y psicológicos, asesoramiento legal y social, talleres, charlas de capacitación y prevención, grupos de ayuda mutua, entre otros. En los casos de urgencia, se trabajó con modalidades de rápida actuación. Sin embargo, algunos de los entrevistados subrayaron que los equipos técnicos, formados por lo general por abogados, trabajadores sociales y psicólogos carecen de personal médico para obtener un abordaje integral. DISCUSIÓN Existe actualmente una etapa de ampliación de derechos y de comprensión de la violencia de género que, en el caso de Tucumán, se desarrolla a partir de lo recorrido en los últimos 10 años. El nuevo desafío es avanzar de manera permanente en intervenciones con abordajes interdisciplinarios e interinstitucionales, para superar barreras culturales estigmatizantes que vulneran derechos esenciales.

Anti-Aspergillus activity of green coffee 5-O-caffeoyl quinic acid and its alkyl esters.

The antifungal activities of 5-O-caffeoyl quinic acid (5-CQA) and of methyl, butyl, octyl, and dodecyl esters or 5-CQA, were tested on five toxigenic moulds from the Aspergillus genus (Aspergillus flavus, Aspergillus nomius, Aspergillus ochraceus, Aspergillus parasiticus, Aspergillus westerdijkiae). These mycotoxin producers' moulds may contaminate many types of food crops throughout the food chain posing serious health hazard to animals and humans. The use of chemical methods to decrease mycotoxin producer moulds contamination on food crops in the field, during storage, and/or during processing, has been proved to be efficient. In this work, the antifungal effect of 5-CQA and a homologous series of 5-CQA esters (methyl, butyl, octyl, dodecyl), was investigated using the microdilution method and the minimum inhibitory concentrations (MIC50 and MIC80). All molecules presented antifungal activity, and two esters showed a MIC for all fungi: octyl (MIC50 ≤ 0.5-0.75 mg/mL, MIC80 = 1.0-1.5 mg/mL) and dodecyl (MIC50 = 0.75-1.25 mg/mL) chlorogenates. Dodecyl chlorogenate showed a MIC80 (1.5 mg/mL) only for A. parasiticus. The maximum percent of growth inhibition on aspergillii was observed with octyl (78.4-92.7%) and dodecyl (54.5-83.7%) chlorogenates, being octyl chlorogenate the most potent antifungal agent. It was thus concluded that lipophilization improved the antifungal properties of 5-CQA, which increased with the ester alkyl chain length, exhibiting a cut-off effect at 8 carbons. As far as we know, it is the first report demonstrating that lipophilization may improve the antifungal activity of 5-CQA on five toxigenic moulds from the Aspergillus genus. Lipophilization would be a novel way to synthesize a new kind of antifungal agents with a good therapeutic value or a potential use as preservative in food or cosmetics.

Thermophilic bacteria from Mexican thermal environments: isolation and potential applications.

Extremophiles are microorganisms that possess application possibilities in several industrial fields, including agricultural, chemical, laundry, pharmaceutical, food, petroleum and bioremediation. This work reports the isolation of 19 thermophilic, alkalitolerant and halotolerant bacterial strains from two thermal sites in Veracruz, México: El Carrizal thermal pool and Los Baños hot spring. These strains belong to the Geobacillus, Anoxybacillus and Aeribacillus genera. The strains produce lipases, proteases, and amylases under thermophilic conditions. They may have good potential for application in microbial enhanced oil recovery, since they are thermophilic and halotolerant, produce exopolymers (up to 11.8 mg/mg) and acids, show emulsifying activity (E24 up to 7.5%), and are able to grow in kerosene as carbon source; these strains may also be used in biodesulphurization since they can grow in dibenzothiophene producing 2-hydroxybiphenyl under thermophilic conditions (up to 2.9 mg/L).

Celopatía alcohólica: un antiguo y actual dilema / Alcoholic jealousy: an old and current dilemma

La relación entre el alcohol y los celos es una creencia asentada tanto entre la población en general como dentro del mundo médico y psiquiátrico en particular. Por otra parte, en estos años está aumentando el interés sobre los aspectos forenses que tienen los celos patológicos, ya que muchas veces son causa de grave violencia, homicidio y suicidio. Autores clásicos han descrito una alta prevalencia de celos patológicos en pacientes alcohólicos e incluso se llegó a dar a la celopatía un valor patognomónico de alcoholismo. Sin embargo, estudios de estos últimos años ponen en cuestión dicha relación y llaman la atención sobre otros factores. En este trabajo analizamos la información proporcionada por la bibliografía disponible con el propósito de añadir luz sobre la valoración de un concepto tan clásico como poco estudiado. Los resultados muestran distintas definiciones y clasificaciones de los celos patológicos y aunque en la mayoría de los estudios se destaca la prevalencia de celopatía en los alcohólicos se cuestiona su carácter patognomónico. También se plantea en los artículos revisados la existencia de celos patológicos en pacientes con otras patologías psiquiátricas distintas al alcoholismo, señalándose que hay factores predisponentes y desencadenantes que explicarían el desarrollo de la celopatía. Las importantes dificultades metodológicas de los artículos publicados y la escasez de estudios disponibles no permiten confirmar la etiología alcohólica de la celopatía, por lo que es bastante controvertido considerar la celopatía alcohólica como entidad específica. Incluso, habría que considerar que el diagnóstico más preciso en estos pacientes sería el de trastorno paranoide en combinación con la dependencia alcohólica, es decir considerarlos como un diagnóstico dual

The relation between alcohol and jealousy is a deeply rooted belief within the general population as well as in the medical, and particularly psychiatric, environment. Furthermore, in recent years there has been a growing interest on the forensic aspects of pathological jealousy, since they are a frequent cause of severe violence, homicide and suicide. Some authors have described a high prevalence of pathological jealousy in alcoholic patients, even awarding it a pathognomonic value in alcoholism. Nevertheless, recent studies do not completely support this relation, and draw attention to other factors. Results from the various studies contain several definitions and classifications of pathological jealousy, and although most of them highlight the prevalence of jealousy in alcoholic patients, they question its pathognomonic quality. Also, the presence of pathological jealousy in subjects with psychiatric disorders other than alcoholism is suggested, indicating the existence of predisposing and triggering factors which could explain the development of pathological jealousy. Yet, the important methodological difficulties in the published articles and the shortage of studies do not allow the confirmation of the alcoholic etiology in pathological jealousy; this is the reason why considering alcoholic jealousy as a separate entity is debatable. In this sense, the best diagnosis in these patients would be paranoid disorder combined with alcoholic dependence, hence, a dual diagnosis

Sistema endocannabinoide y polimorfismos del gen CNR1 en la esquizofrenia y los trastornos adictivos / Endocannabinoid system and CNR1 gene polymorphisms in schizophrenia and addictive disorders

La esquizofrenia presenta una alta comorbilidad con los trastornos adictivos, siendo el cannabis una de las sustancias más frecuentemente consumidas por estos pacientes. En los últimos años hemos asistido al descubrimiento del sistema endocannabinoide, conociéndose que las acciones centrales de los endocannabinoides se vehiculan a través de los receptores cerebrales de tipo 1 (CB1) codificados por el gen CNR1. El sistema endocannabinoide interviene en una gran cantidad de procesos cerebrales a través de su interacción con otros sistemas de neurotransmisión, encontrándose implicado a su vez en la neurobiología de la esquizofrenia y de los trastornos adictivos. La investigación genética en los últimos años se ha dirigido en pacientes con estos trastornos psiquiátricos al estudio de marcadores polimórficos de genes candidatos, entre ellos el gen CNR1. En esta revisión se describen los estudios realizados con el gen CNR1 en ambos trastornos

Substance abuse is the most prevalent comorbid psychiatric condition associated with schizophrenia. Cannabis is a drug frequently used for schizoprenic patients. In the last decades the endocannabinoid system and their endogenous ligands have been discovered. Endogenous cannabinoids act in the brain on cannabinoid CB1 receptor. On the other hand this system may be involved in several brain functions through neuromodulation dopaminergic and other neurotransmitter system involved in schizophrenic and substance abuse disorders. Advances of genetic research have addressed the focus on the search of candidate genes for both disorders. In this review we have summarized the studies published about the CNR1 gene on szhizophrenia and substance abuse disorders

Consideraciones éticas en lasdesintoxicaciones ultracortas / Ethical aspects of Ultrarapid opioid detoxification techniques

En los últimos años han aparecido las desintoxicaciones ultracortas como una estrategia más en el tratamiento de la dependencia de opiáceos. En este artículo se analizan algunos hechos sobre la ética en la aplicación de esta modalidad terapeútica: eficacia, seguridad y que constituyan un fraude para el paciente o la comunidad científica. Metodología: se han revisado las publicaciones aparecidas en Medline sobre eficacia, seguridad y aquellas en las que se aborden aspectos éticos de estas técnicas. Resultados: la revisión de las publicaciones indica que las desintoxicaciones ultracortas son muy eficaces a corto plazo, aunque a medio plazo no son más eficaces que las desintoxicaciones clásicas. Sobre la seguridad de las mismas, se han comunicado varios casos de fatal desenlace para los pacientes. De hecho, en opinión del NIDA, estas técnicas únicamente deberían de utilizarse en estudios rigurosamente diseñados. Por último, se han detectado varios casos de fraude para la comunidad científica, como el intento de patentar dicha técnica y de negar información a los pacientes sobre el procedimiento utilizado durante la misma. Conclusiones: aunque eficaces, no parecen ser el tratamiento de primera elección en la desintoxicación de opiáceos y se echan de menos criterios avalados por la comunidad científica, para evitar la información distorsionada e interesada que a veces llega a los pacientes. (AU)

Trastorno por déficit de atención e hiperactividad y vulnerabilidad al desarrollo de alcoholismo: empleo de la Wender-Utah Rating Scale (WURS) para el diagnóstico retrospectivo de TDAH en la infancia de pacientes alcohólicos / Attention-deficit hyperactivity disorder and vulnerability to the development of alcoholism: use of Wender-Utah Rating Scale for retrospective diagnostic of ADHD in the early ages of alcoholic patients

En los últimos años se han venido acumulando datos sobre una importante asociación entre adicciones y Trastorno por Déficit de Atención e Impulsividad (TDAH).Ambos trastornos comparten aspectos clínicos y marcadores biológicos relevantes, y para ambos se han postulado alteraciones en los mismos sistemas cerebrales. Objetivo: Evaluar la frecuencia de posible TDAH en la infancia de pacientes alcohólicos adultos, en comparación con controles. Método: Se realiza una adaptación de la Wender-Utah Rating Scale (WURS) y se analizan sus características psicométricas. Se administra a 117 pacientes alcohólicos y a 52 controles. Resultados: La puntuación media del WURS es significativamente superior en alcohólicos que en controles (32,26 vs. 16,55; p< 0,0001). El porcentaje de pacientes alcohólicos con una puntuación por encima de los distintos puntos de corte (36 y 46) es también superior en alcohólicos que en controles (36,75 por ciento vs. 7,69 por ciento; p<0,0005; 18,8 por ciento vs. 1,92 por ciento, p< 0,01). La puntuación media es más elevada en los alcohólicos con otra conducta adictiva concomitante que en los que no la presentan (37,61 vs.29,17, p< 0,018), y en bebedores que alcanzan h abitualmente un grado de embriaguez elevado. Conclusiones: Entre los pacientes alcohólicos existe un grupo importante con puntuaciones elevadas en el WURS, lo que podría indicar alta prevalencia de TDAH infantil. Se discuten las implicaciones clínicas y etiopatogénicas, así como la conveniencia de avanzar en el desarrollo de herramientas diagnósticas (AU)

Eficacia de risperidona en el manejode problemas clínicos en toxicomanías / Clinical situations in addictive behaviours: Efficacy of Risperidone

Objetivo: revisar las diferentes patologías psiquiátricas relacionadas con los trastornos adictivos en las que se haya utilizado risperidona. Material y métodos: se han revisado todos los estudios publicados en los que se haya empleado risperidona para los trastornos comórbidos con los trastornos adictivos. Resultados: la risperidona ha sido eficaz en pacientes dependientes de drogas que como consecuencia de su utilización presenten síntomas psicóticos o de autoagresividad y heteroagresividad (trastornos esquizofrénicos, esquizoafectivos o de personalidad). Así mismo, los datos sobre la disminución del deseo por el consumo de cocaína y sobre su eficacia en la disminución del consumo de drogas indican su papel en el sistema dopaminérgico de recompensa. También se constata su excelente tolerabilidad y el bajo perfil de efectos secundarios. Conclusiones: sus acciones sobre el sistema dopaminérgico y serotoninérgico hacen de risperidona una herramienta de primera línea en el tratamiento de los diferentes trastornos comórbidos de las toxicomanías (AU)

[Attention-deficit hyperactivity disorder and vulnerability to the development of alcoholism: use of the Wender-Utah Rating Scale for retrospective diagnostic of ADHD in the childhood of alcoholic patients]. / Trastorno por déficit de atención e hiperactividad y vulnerabilidad al desarrollo de alcoholismo: empleo de la Wender-Utah Rating Scale (WURS) para el diagnóstico retrospectivo de TDAH en la infancia de pacientes alcohólicos.

UNLABELLED: In the last years, it has been accumulated data about an important association between addictions and attention-deficit hyperactivity disorder (ADHD). Both disorders share clinic aspects and relevant biological markers, and for both it has been postulated alterations in the same cerebral systems. OBJECTIVE: To evaluate the rate of possible ADHD in the early ages of adult alcoholic patients, in contrast with controls. METHOD: It was realized an adaptation of Wender-Utah Rating Scale (WURS) and it was analyzed its psychometric characteristics. It was administered to 117 alcoholic patients and to 52 controls. RESULTS: The mean score of WURS is significatively higher in alcoholic group than in the control one (32.26 vs. 16.55, p< 0.0001). The percentage of alcoholic patients who has a score upper the different cut-off points (36 and 46) is also higher in alcoholic group than in the control one (36.75% vs 7.69%; p< 0.0005; 18.8% vs. 1.92%; p< 0.01, respectively). The mean score is higher in alcoholics with other comorbid addiction than in alcoholics without it (37.61 vs. 29.17; p< 0.018), and is higher in alcoholic patients who usually have intoxicated states in an high-moderate grade than those who have it in a low-nule one. CONCLUSIONS: Among alcoholic patients exists an important group with high scores in the WURS, it could indicate high rates of ADHD in early ages. It was discused the clinic and etiopathogenetics implications, and the convenience of advancing in the developemnt of diagnostic tools.

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.

Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has demonstrated a higher proportion of mosaicism, and studies in different populations have shown an extremely variable frequency of Y mosaicism of 0-61%. We used Southern blot analysis and polymerase chain reaction (PCR) to detect the presence of Ycen, ZFY, SRY, and Yqh in 50 Mexican patients with UTS and different karyotypes to determine the origin of marker chromosomes and the presence of Y sequences. Our results indicated the origin of the marker chromosome in 1 patient and detected the presence of Y sequences in 4 45,X patients. Taken together, we found a 12% incidence of Y sequences in individuals with UTS. The amount of Y-derived material was variable, making the correlation between phenotype and molecular data difficult. Only 1 patient had a gonadoblastoma. We discuss the presence of Y chromosomes or Y sequences in patients with UTS and compare our frequency with that previously reported.

Non-Hodgkin's lymphomas in Mexico. A clinicopathological and molecular analysis.

It is now well established that the clinical and histopathological characteristics of non-Hodgkin's lymphomas may vary significantly throughout the world. However, only a few reports have been published in Latin American countries. In this work, the clinical and pathologic findings of 264 patients with non-Hodgkin's lymphomas in Mexico City were analyzed. Diffuse large (14%) and diffuse mixed cell types (20%) predominated among nodal lymphomas. Within the group of patients with high grade malignancies, immunoblastic sarcomas were the most common (40/48). It is important to mention that follicular lymphomas were sporadic (4.5%). Among extranodal lymphomas the most commonly involved site was the gastrointestinal tract (11.3%), followed by the midline (6%). Molecular analysis of 65 cases with immunoglobulin and T-cell receptor gene probes showed that most lymphomas were of B-cell lineage (66%). The remaining group was composed of T-cell (25%) and bigenotypic malignancies (9%). All attempts to establish a correlation between the clinical stage and histopathological types with the genetic findings were not successful. However, pre-B and bigenotypic lymphomas were observed mainly in patients over 60 years of age. This study highlights some relevant characteristics of non-Hodgkin's lymphomas in Mexico.

Specific recognition and rejection of the H-2-deficient cell line LR.4 by C57BL/6J mice.

The humoral immune response developed by C57BL/6J mice against the beta 2-microglobulin (beta 2m) and major histocompatibility complex (MHC) class I- and class II-deficient cell variant of L5178Y, LR.4, is strain specific, is not linked to a given haplotype and involves at least one antigenic determinant expressed on the cell membrane. Anti-LR.4 antibodies can be detected in the serum and ascitic fluid of tumour-bearing animals, and in the serum of mice immunized with mitomycin C (MC)-treated cells. In vitro, cytotoxic T lymphocytes (CTL) cannot be induced under different experimental conditions. However, recognition and lysis of LR.4 are mediated by an antibody-dependent cell-mediated cytotoxicity (ADCC) mechanism in which natural killer (NK) cells extracted from the spleen of resistant or susceptible strains are the effector cells. The NK cells responsible for ADCC against LR.4 are not inducible with polyinosinic-polycytidylic acid (poly(I:C)) and could represent a subset that is not detectable by conventional assays. In conclusion, the incapacity of BALB/c and possibly of other strains of mice to reject LR.4 is determined by the failure to mount a humoral immune response.

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes.

True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Müllerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XX is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition.

Clinical traits and molecular findings in 46,XX males.

46,XX maleness is characterized by the presence of testicular development in subjects who lack a Y chromosome. The majority of affected persons have normal external genitalia, but 10-15% show various degrees of hypospadias. Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis-determining factor (TDF) from the Y to the X chromosome, mutation in an autosomal or X chromosomal gene which permits testicular determination in the absence of TDF, and undetected mosaicism with a Y-bearing cell line. We report the phenotypic data and results of molecular analyses performed in six sporadic Mexican males with 46,XX karyotype. Molecular studies revealed Yp sequences in two individuals (ZFY+ SRY+) with different phenotypes, a third one presented with a smaller segment of Yp (ZFY- SRY+) and complete virilization, while the remaining three were Y-negative and showed hypospadias. In all subjects a hidden mosaicism with a Y-bearing cell line was ruled out due to the absence of Y-centromeric sequences. Our data demonstrate that the phenotype does not always correlate with the presence or absence of Y-sequences in the genome, and confirm that 46,XX maleness is a genetically heterogeneous condition.

SRY alone can induce normal male sexual differentiation.

Most individuals with the rare 46,XX male "syndrome" arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation.

Neurophysiological properties of pallidal neurons in Parkinson's disease.

Neuronal properties of the human globus pallidus (GP) are not known. Since GP is the major output of the basal ganglia, it may be involved in the pathophysiology of Parkinson's disease. We studied 12 patients with medically resistant Parkinson's disease by using single cell recording of the GP during stereotaxic pallidotomy to define neuronal firing rate and its modulation during active and passive movements. Different frequency and pattern of single cell activity was found in globus pallidus externus compared with globus pallidus internus. Discharge rates of 19% of GP cells were modulated by passive contralateral movements. Pallidal units were most often related solely to single joint movement. Different patterns of activity in relation to the two different movements of the same joint were often observed. We identified somatotopically arranged cell clusters that alter discharge rate with related movements. These findings suggest at least a partial somatotopic organization of the human GP and similarity with experimental results in both healthy and MPTP monkeys, providing a rationale for surgical or pharmacological targeting of GP for treating Parkinson's disease.

Primary B cell lymphoma of the rectum in a patient coinfected with HIV-1 and HTLV-I.

This report describes a clinical case of a large cell, immunoblastic plasmacytoid malignant B-cell lymphoma of the rectum in an AIDS patient coinfected with HTLV-I. The malignant cells showed clonal genetic rearrangement of the HC (JH) and LCK genes. Infection by EBV was demonstrated serologically and with slot blots using genomic DNA of the cancer cells. Southern blot analysis with DNA extracted from the lymphoma cells were negative for HTLV-I. The patient received seven cycles of VACO-B which induced complete but transient clinical remission of the tumor. The final outcome of the patient is unknown.