Endovascular Coil Occlusion of a Traumatic Pseudoaneurysm of the Posterior Cerebral Artery: A Case Report

ABSTRACT A 51-year-old male developed traumatic pseudoaneurysms of the right- and left-posterior cerebral arteries following endoscopic resection of a pituitary adenoma. The right-sided aneurysm resolved spontaneously but the left progressed in size. This was treated endovascularly, with successful embolization of the sac. This is the first report of this approach to the management of a pseudoaneurysm of the posterior cerebral arteries to our knowledge.

Elevated levels of glutathionyl haemoglobin as an oxidative stress marker in patients with major depressive disorder

Background & objectives: Oxidative stress has been implicated in the pathophysiology of major depressive disorder (MDD), but biomarkers to assess oxidative stress in patients with MDD have yielded ambiguous results. Glutathionyl haemoglobin (GS-Hb) has been reported as a stable and potential biomarker for oxidative stress in various clinical conditions. The objective of the study was to evaluate GS-Hb as a potential biomarker of oxidative stress in patients with MDD through its quantification and to compare the levels of GS-Hb in age- and gender-matched healthy controls. Methods: The levels of GS-Hb were estimated using liquid chromatography coupled to electrospray ionization mass spectrometry in patients diagnosed with MDD and in a subset of patients after six weeks of treatment with selective serotonin reuptake inhibitors (SSRIs). Results: GS-Hb levels in drug-naïve patients with MDD (n=26) were significantly elevated compared to matched healthy controls (n=17). GS-Hb levels were not significantly different between MDD patients with and without co-morbid anxiety disorders. There were no significant differences in GS-Hb levels following six weeks of treatment with SSRIs compared to baseline. Interpretation & conclusions: Compared to controls, GS-Hb level in patients with MDD was significantly elevated, suggestive of increased oxidative stress associated with MDD. However, six weeks of antidepressant treatment was not sufficient to modify the alterations in antioxidant/oxidant system. Further studies need to be done with a large sample of MDD patients with a longer duration of antidepressant treatment.

Locally Advanced Staged Juvenile Nasopharyngeal Angiofibroma Treated with Endoscopic Endonasal Approach and Angio-embolization at a Tertiary Institution in Jamaica / Angiofibroma nasofaríngeo juvenil en etapa localmente avanzada tratado con un enfoque endonasal endoscópico y angioembolización en una institución terciaria en Jamaica

ABSTRACT Locally advanced staged juvenile nasopharyngeal angiofibroma (JNA) traditionally treated with external approaches has been associated with significant morbidities such as blood loss with subsequent blood transfusions, scars, impaired speech, poor swallowing, recurrence and prolonged hospital stays. This case report describes our initial experience in a patient with a locally advanced JNA treated with endonasal endoscopic approach and angio-embolization at Kingston Public Hospital, Jamaica, with subsequent benefits.

RESUMEN El angiofibroma nasofaríngeo juvenil (ANJ) en etapa localmente avanzada, tratado tradicionalmente con enfoques externos, se ha asociado a morbilidades significativas, tales como pérdida de sangre con transfusiones subsecuentes de sangre, cicatrices, trastornos del habla, pobre deglución, recurrencia y estancias hospitalarias prolongadas. Este reporte de caso describe nuestra experiencia inicial con un paciente con ANJ localmente avanzada tratado con un enfoque endonasal endoscópico y angioembolización en el Hospital Público de Kingston, Jamaica, con beneficios subsiguientes.

Dementia among Older Persons in Jamaica: Prevalence and Policy Implications / La demencia entre las personas de edad en Jamaica: prevalencia e implicaciones para la implementación de políticas

ABSTRACT Objective: To determine the prevalence of dementia and dementia types in Jamaica. Methods: An embedded case-control design was used to investigate dementia within the ageing population. Cases (Mini-Mental State Examination [MMSE] scores of < 20) and controls (MMSE scores of > 20) were evaluated using DSM-IVprotocol and magnetic resonance imaging. Prevalences (crude and age-adjusted) were calculated and distribution of dementia by type described. Results: Dementia prevalence was 5.9%. Alzheimer's pattern dementia accounted for 61.8% and vascular dementia 32.4%. However, vascular disease was prominent in 45.5% of the Alzheimer's cases. Female gender and increasing age were associated with higher rates of dementia. Dementia was 38 times more likely in participants with MMSE scores below 20. Conclusion: This first nationally representative study indicated that dementia rates in Jamaica were comparable with regional and global estimates. Regardless of the dementia type, vascular change was pervasive and suggested that synergistic efforts should be made to address underlying contributory factors. Cardiovascular and cerebrovascular risk reduction should be deliberately pursued as integral adjuncts to dementia risk reduction.

RESUMEN Objetivo: Determinar la prevalencia de los tipos de demencia y demencia en Jamaica. Métodos: Se utilizó un diseño de caso-control incrustado para investigar la demencia dentro de la población en proceso de envejecimiento. Los casos (puntuación < 20 en el Mini Examen del Estado Mental [MEEM]) y los controles (puntuación > 20 en el MEEM) fueron evaluados usando el protocolo DSM-IVy la imagen por resonancia magnética. Se calcularon prevalencias (crudas y ajustadas por edad) y se describió la distribución de la demencia por tipo. Resultados: La prevalencia de demencia fue de 5.9%. El Alzheimer representó el 61.8% y la demencia vascular 32.4%. Sin embargo, la enfermedad vascular fue prominente en el 45.5% de los casos de Alzheimer. El género femenino y la edad creciente se asociaron con tasas más altas de demencia. La demencia fue 38 veces más probable en los participantes con puntuaciones de MEEM por debajo de 20. Conclusión: Este primer estudio nacionalmente representativo indicó que las tasas de demencia en Jamaica eran comparables con los estimados regionales y globales. Independientemente del tipo de demencia, el cambio vascular fue generalizado y sugirió que se hicieran esfuerzos sinérgicos para abordar los factores contribuyentes subyacentes. Debe buscarse deliberadamente la reducción del riesgo cardiovascular y cerebrovascular como adjuntos integrantes de la reducción del riesgo de demencia.

Spontaneous extracranial internal carotid artery aneurysm: a case report / Aneurisma espontáneo de la arteria carótida interna extracraneal: reporte de caso

Extracranial internal carotid artery aneurysms are rare. They may result in thromboembolic phenomena but spontaneous rupture is rare. The clinical presentation may be an asymptomatic neck mass or there may be symptoms of upper aerodigestive tract compression. The diagnosis may be suspected on clinical examination but radiologic investigations play an important role in diagnosis as well as in assessing the risk of complications of surgical intervention. We present a case of a patient with an extracranial internal carotid artery aneurysm, along with a short review of the treatment options.

Los aneurismas de la arteria carótida interna extracraneal son raros. Pueden ocasionar fenómenos tromboembólicos pero la ruptura espontánea no es común. La manifestación clínica puede ser una masa asintomático en el cuello, o pueden presentarse síntomas de compresión de las vías aerodigestivas superiores. Pueden producirse indicios para el diagnóstico a partir de sospechas durante el examen clínico, pero las investigaciones radiológicas desempeñan un papel importante a la hora de diagnosticar, y evaluar el riesgo de complicaciones de la intervención quirúrgica. Presentamos un caso de un paciente con un aneurisma de la arteria carótida interna extracraneal, junto con una breve reseña de las opciones de tratamiento.

Cisgenesis and Intragenesis: New tools For Improving Crops

Genetically Modified Organisms (GMO) could be the answer for many relevant problems affecting crops. However, improving crops through GMO is also often associated with safety concerns, environmental risks and health issues due to the presence of foreign DNA. These limitations have prompted the development of alternative technologies. Recently, cisgenesis and intragenesis have been developed as new tools aimed to modify crops. While cisgenesis involves genetic modification using a complete copy of natural genes with their regulatory elements that belong exclusively to sexually compatible plants, intragenesis refers to the transference of new combinations of genes and regulatory sequences belonging to that particular species. So far, application of cisgenesis and intragenesis as alternatives to conventional transgenesis are limited to a few species, mainly due to the lack of knowledge of the regulatory sequences required. The grape is one of the most cultivated crops worldwide and is the most economically relevant crop in Chile. Its genomic sequence has been completed, making available new sources of information to improve grape traits by genetic manipulation. This review is focused on the current alternatives to transgenesis in plants, including new approaches to develop marker-free crops, their application to economically relevant crops and future perspectives in the area. Also, the identification of grapevine promoters with a wide range of expression profiles is shown. The expression pattern of these genes was analyzed in different tissues and developmental stages, as well as under several stresses and stimuli, giving a broad range of expression patterns, including genes expressed exclusively during ripening, in response to sugars, senescence and biotic stress, among others. Genes with strong and constitutive expression were also identified. Functional analysis using reporter genes has been conducted in order to confirm the promoter's transcription activity, opening new possibilities for developing cisgenic/intragenic grapevines.

The establishment of an Intracranial Tumour Registry at the University Hospital of the West Indies / Establecimiento de un registro de Tumor Intracraneal en el Hospital Universitario de West Indies

In March 2010, the first Intracranial Tumour Registry (ITR) in the English-speaking Caribbean was started at the University Hospital of the West Indies (UHWI). This was deemed necessary as the already established Jamaica Cancer Registry only reports on malignant brain tumours. The ITR will collect data on all prospective intracranial tumours, benign and malignant, which are diagnosed histologically at the UHWI. Retrospective information dating back five years was also collected. Data collected so far reveal that between the years 2006 to 2010, a total of 317 cases were entered into the database. Of these, only 45 cases were considered eligible. The issues surrounding this discrepancy are discussed in this paper along with the many challenges experienced in the establishment of the ITR. From these experiences, the authors have also put forward several recommendations that may be useful to other researchers who wish to implement similar systems.

En marzo del 2010, en el Hospital Universitário de West Indies (HUWI), se inició elprimer Registro de Tumor Intracraneal (RTI) del Caribe anglófono. La creación de este registro fue considerada una necesidad por cuanto el ya establecido Registro de Cáncer de Jamaica solamente reporta tumores malignos del cerebro. El RTI recogerá datos de todos los tumores intracraneales prospectivos, tanto benignos como malignos, que sean histológicamente diagnosticados en HUWI. También se recopiló en retrospectiva información de cinco anos atrás. Datos coleccionados hasta ahora revelan que entre los anos 2006 a 2010, un total de 317 casos fueron introducidos en el banco de datos. De éstos, sólo 45 casos fueron considerados elegibles. En el presente trabajo se discuten los problemas en torno a esta discrepancia, junto con los numerosos retos enfrentados con la creación del RTI. A partir de estas experiencias, los autores hacen también varias recomendaciones que pueden ser útiles a otros investigadores deseosos de implementar sistemas similares.

Fetal central nervous system magnetic resonance imaging at the University Hospital of the West Indies, Jamaica / Imagen por resonancia magnética del sistema nervioso central fetalen el Hospital Universitario de West Indies, Jamaica

BACKGROUND: Compared with ultrasound, magnetic resonance imaging (MRI) offers superior visualization of the fetal brain. It confirms and characterizes brain abnormalities detected by prenatal ultrasound, particularly in late pregnancy when acoustic windows are difficult or fetal position is inaccessible. Prior to July 2008, only two studies were attempted at our institution as local technical expertise was unavailable. Following collaboration with a neuroradiologist at an expert centre, images of sufficient quality for diagnosis were obtained. OBJECTIVE: The study objective is to evaluate the initial experience with fetal brain MRI and its effects on patient counselling and management in a resource limited healthcare system. METHOD: In seven fetuses with abnormal ultrasound neuroimaging, fetal MRI was performed with T2- weighted single-shot fast spin-echo (SSFSE) sequences using a 1.5T magnet (GE Medical Systems, Milwaukee, WI). RESULTS: Magnetic resonance imaging did not alter ultrasound diagnosis in two patients (28%); however, it changed the diagnosis in three (43%), provided additional information in one (14%) and changed management in two (28%) patients. CONCLUSION: Magnetic resonance imaging availability further elucidated brain pathology, aided patient counselling, parental decision-making and multidisciplinary management.

ANTECEDENTES: A diferencia del ultrasonido, la imagen por resonancia magnética (IRM) ofrece una visualización superior del cerebro fetal. Mediante ella, se hace posible confirmar y caracterizar las anormalidades detectadas por el ultrasonido prenatal, particularmente en la última etapa del embarazo, cuando las ventanas acústicas son difíciles, o la posición fetal es inaccesible. Antes del 2008 de julio, se intentaron sólo dos estudios en nuestra institución, ya que a nivel local no se disponía de conocimientos técnicos especializados. Tras la colaboración con un neuroradiólogo en un centro especializado, se obtuvieron imágenes de calidad suficiente para realizar el diagnóstico. OBJETIVO: El objetivo del estudio es evaluar la experiencia inicial con el IRM del cerebro fetal y sus efectos en cuanto a brindar consejos y tratamiento a los pacientes en un sistema de atención a la salud con recursos limitados. MÉTODO: En siete fetos con neuroimágenes de ultrasonido anormales, se llevó a cabo un IRM fetal con secuencias potenciadas en T2 como single-shot fast spin-echo (SSFSE), usando un imán 1.5T (GE Medical Systems, Milwaukee, WI). RESULTADOS: La imagen por resonancia magnética (IRM) no alteró el diagnóstico del ultrasonido en dos pacientes (28%). Sin embargo, cambió el diagnóstico en tres (43%), dio información adicional en uno (14%), y cambió el tratamiento en dos (28%) pacientes. CONCLUSIÓN: Poder contar con la imagen de resonancia magnética permitió dilucidar aún más la patología del cerebro, ayudar a dar consejos al paciente, tomar decisiones a los padres, y alcanzar un tratamiento multidisciplinario.

Role of routine chest radiographs in the evaluation of patients with stable blunt chest trauma: a prospective analysis / Papelde las radiografías de tórax rutinarias en la evaluación de pacientes contraumas contundentes estables del tórax: análisis prospectivo

OBJECTIVE: The study sought to assess the test performance characteristics of clinical judgement in the evaluation of stable blunt chest trauma patients compared with chest radiography (CXR) in the determination of significant intra-thoracic injury. METHODS: We prospectively enrolled all adult patients (older than 16 years) who were considered to have stable blunt chest trauma over a six-month period (May 1-October 31, 2009). We defined the latter as patients who were unintubated, normotensive (systolic blood pressure > 90 mm Hg) and without hypoxia (oxygen saturation > 95% at room air). Patients eligible for the study were sent for anteroposterior (AP) CXRs which were then interpreted by the same consultant radiologist throughout the study period. Both test (clinical judgement) and disease status (CXR) were assigned and correlated as binary measures. We compared the test performance characteristics such as sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and diagnostic likelihood ratios of clinical judgement to CXR findings in the determination of significant intra-thoracic injury. RESULTS: During the six-month period, data were collected from 77 eligible stable blunt chest trauma patients (age over 16 years). Fifty-nine patients (76.6%) were male. Nine patients (11.7%) were radiologically confirmed to have significant blunt chest injuries including rib fractures, pneumothorax and an isolated case of pulmonary contusion. All nine (11.7%) patients had a positive (abnormal) radiograph for rib fractures. In addition, three (3.9%) of them also had both rib fracture and pneumothoraces and one (1.3%) had both a rib fracture and pulmonary contusion. Clinical judgement for the diagnosis of significant blunt chest injuries matched with the CXR finding with 95%confidence intervals (CIs): sensitivity 100% (95% CI 66.4, 100), specificity 32.4% (95% CI 21.5, 44.8), prevalence 11.7%, PPV 16.4% (95% CI 7.77, 28.8), NPV 100% (95% CI 84.6, 100), DLR+ 1. 48 (95% CI 1. 25, 1. 74). CONCLUSION: The majority of patients who sustained blunt chest injuries and were assessed as stable patients do not require CXR routinely. This study revealed that physicians in the local Emergency Department may be over-utilizing CXR for patients who have stable blunt chest trauma.

OBJETIVO: Este estudio se propuso evaluar las características de rendimiento de test del juicio clínico, a la hora de evaluar pacientes con traumatismos contundentes torácicos estables, en comparación con la radiografía de tórax al determinar lesiones intra-torácicas significativas. MÉTODOS: De forma prospectiva, fueron enrolados todos los pacientes adultos (mayores de 16 años) de quiénes se consideraba que habían tenido un trauma contundente torácico estable por un período de más de seis meses (1ero de mayo al 31 de octubre, 2009). Definimos a estos últimos como pacientes no entubados, normotensos (tensión arterial sistólica > 90 mm Hg) y sin hipoxia (saturación de oxígeno > 95% en el aire de la habitación). Los pacientes elegibles para el estudio fueron enviados a hacerse una radiografía torácica anteroposterior (AP), la cual fue entonces interpretada por el mismo radiólogo consultante a cargo de ese análisis durante todo el periodo de estudio. Tanto el test (juicio clínico) como el estatus de la enfermedad (rayos X del tórax) fueron asignados y correlacionados como medidas binarias. Se compararon las características de rendimiento del test, tales como la sensibilidad, la especificidad, el valor predictivo positivo, el valor predictivo negativo, las tasas de probabilidad diagnóstica del juicio clínico, con los hallazgos de los rayos X de tórax para la determinación de la lesión intra-torácica significativa. RESULTADOS: Durante el periodo de seis meses, se recogieron datos de 77 pacientes elegibles con traumatismos contundentes estables de tórax (mayores de 16 años). Cincuenta y nueve pacientes (76.6%) eran varones. En nueve pacientes (11.7%) se habían confirmado radiológicamente lesiones de tórax significativas, incluyendo fracturas de las costillas, pneumotórax, y un caso aislado de contusión pulmonar. Los nueve (11.7%) pacientes todos tenían una radiografía positiva (anormal) de las fracturas de las costillas. Además, tres de ellos (3.9%) tenían fractura de la costilla y además pneumotórax, en tanto que uno (1.3%) presentaba fractura de las costillas y contusión pulmonar también. El juicio clínico para el diagnóstico de lesiones contundentes estables de tórax significativas se correspondía con los hallazgos de las radiografías torácicas, como lo muestran los siguientes resultados de la prueba, con intervalos de confianza (ICs) de 95%: sensibilidad 100% (95% IC 66.4, 100), especificidad 32.4% (95% IC 21.5, 44.8), prevalencia, 11.7%, PPV 16.4% (95% IC 7.77, 28.8), NPV 100% (95% IC 84.6, 100), DLR+ 1.48 (95% IC 1.25, 1.74). CONCLUSIÓN: La mayoría de los pacientes que han sufrido traumatismos contundentes de tórax, y fueron evaluados como pacientes estables no requieren rayos C de tórax rutinariamente. Este estudio reveló que los médicos en el Departamento de Emergencias local pueden estar haciendo un uso excesivo de las radiografías torácicas en el caso de pacientes con traumas torácicos contundentes estables.

Breast imaging update

Screening mammography has been shown to reduce the number of deaths due to breast cancer. Recent data have shown that there is low patient and physician participation in screening mammography in Jamaica. Breast imaging is concerned primarily with early detection of breast cancer. Despite technological advances, mammography continues to play a pivotal role. In this report, the authors will review the available imaging modalities and their role in screening patients for breast cancer as well as the evaluation of the symptomatic patient with particular reference to the situation in Jamaica.

Mammographic referral patterns for two breast imaging units in Jamaica / Patrones de remisión para mamografías en dos unidades de imágenes de mamas en Jamaica

OBJECTIVE: In countries that have instituted national mammographic screening programmes, mortality from breast cancer has decreased by as much as 63%. Although mortality rates from breast cancer in Jamaica are high, there is no national mammographic screening programme. In this context, opportunistic screening, which depends on contact between healthcare provider and patient, as well as self-referral become important. Therefore, the authors sought to determine the source of referrals for women who had mammography. SUBJECTS AND METHODS: The variables of age, indication for mammography, source of referral and referring physician area of specialty if applicable were extracted from the attendance records for all patients who had mammography at the breast imaging unit at the University Hospital of the West Indies (UHWI) and Radiology West (RadWest) in the year 2003. RESULTS: There were 779 bilateral mammograms done at UHWI of which 452 (58%) were screening and 1223 mammograms done at RadWest of which 657 (54%) were screening. The difference in proportion of self-referral between the two facilities was significantly different (p < 0. 001). Of the 452 screening mammograms performed at UHWI, 329 (73%) were self-referred, 31 (7%) were from primary care, 18 (4%) from gynaecologists and 17 (4%) from general surgeons. In contrast, of the 657 screening mammograms, at Radwest, 92 (14%) were self-referred, 323 (49%) were from primary care, 47 (7%) from gynaecologists and 37 (6%) from general surgeons. CONCLUSION: To increase the utilization and hence effectiveness of screening mammography, programmes targeting healthcare professionals, particularly gynaecologists and the public are needed.

OBJETIVO: En países que han instituido programas nacionales de pesquisaje mamográfico, la mortalidad por cáncer de mamas ha disminuido tanto como un 63%. Aunque las tasas de mortalidad por cáncer de mama en Jamaica son altas, no existe un programa nacional de pesquisaje mamográfico. En este contexto, el pesquisaje oportunista – que depende del contacto entre el proveedor de la atención médica a la salud y el paciente – así como la autoremisión, se hacen importantes. Por lo tanto, los autores buscan determinar las fuentes de las autoremisiones de mujeres que tuvieron mamografías. SUJETOS Y MÉTODOS: Las variables de edad, indicación de mamografía, fuente de remisión, y – si fuese necesario – el área de especialidad del médico que remite, fueron extraídas de los registros de asistencia de todas las pacientes a las que se les realizaron mamografías en la unidad de imágenes de mamas del Hospital Universitario de West Indies (UHWI), y en la de Radiology West (Rad West) en el año 2003. RESULTADOS: Se realizaron 779 mamogramas bilaterales en UHWI – de los cuales 452 (58%) fueron pesquisajes – y 1223 mamogramas en RadWest – de los cuales 657 (54%) fueron pesquisajes. La diferencia en proporción de autoremisiones entre las dos instalaciones, fue significativa (p < 0.001). De los 452 mamogramas de pesquisaje realizados en UHWI, 329 (73%) fueron autoremisiones, 31 (7%) provenían de atención primaria, 18 (4%) de ginecólogos, y 17 (4%) de cirujanos. En contraste con esto, en RadWest, de los 657 mamogramas de pesquisaje, 92 (14%) fueron autoremisiones, 323 (49%) provenían de atención primaria, 47 (7%) de ginecólogos, y 37 (6%) de cirujanos generales. CONCLUSIÓN: A fin de aumentar la utilización, y por ende la efectividad de la mamografía de pesquisaje, se necesitan programas dirigidos a captar la participación de los profesionales de atención médica a la salud – en particular los ginecólogos – así como del público.

P450 arom y microambiente estrogénico en endometrios eutópicos de mujeres con endometriosis / P450Arom and estrogenic microenvironment of eutopic endometria in endometriosis

Background: Endometriosis, a common gynecologic disorder characterized by endometrial glands and stroma outside the uterus, is diagnosed by direct visualization of peritoneal and ovarian implants during laparoscopy. Aim: To study the estrogenic microenvironment in eutopic endometria of women with and without endometriosis. Patients and methods: Eutopic endometria, obtained during laparoscopy from 23 women with endometriosis and 20 fertile cyclic women undergoing tubal sterilization, was studied. P450Arom mRNA expression (RT-PCR) was measured. Also, P450Arom activity was assessed measuring testosterone conversion to estradiol and the concentration of this last hormone in cultured endometrial explants. Results: Age and body mass index was similar in both groups studied. Seventy nine percent of endometria from women with endometriosis and in 29.4 percent from control group expressed P450Arom mRNA (p <0.01). The intensity of the band was higher in secretory endometria from women with endometriosis when compared to controls (p <0.01), but it was similar during the proliferative phase. Estradiol secretion to the culture media by proliferative endometria explants from women with endometriosis was 3-fold higher than secretory endometria (p <0.01) and endometria from control women in both phases. P450Arom activity, in the presence of testosterone, was 7-fold higher in endometrial cultures from women with endometriosis, when compare with the basal culture (p <0.01). However, in endometrial explant cultures from control women, this activity was not statistical different. Conclusions: These results indicate that in women with endometriosis, the microenvironment in the endometria is estrogenic as a consequence of an increased expression and activity of the P450 Arom.

Estudio clínico molecular de pacientes chilenas con síndrome de McCune-Albright / Clinical and molecular study of Chilean patients with McCune-Albright Syndrome

Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70 per cent of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells

Outcome of first contact schizophrenia in Jamaica

Several previous studies have identified high incidence rates, high relapse rates and poor short-term outcome for schizophrenia in African-Caribbeans in the United Kingdom (UK). Studies in the Caribbean have found the incidence of schizophrenia to be within worldwide levels, and one-year outcome to be much lower than that reported for African Caribbean patients in the UK. First contact patients with schizophrenia identified prospectively by the Present Status Examination were followed prospectively for one year. The main outcome measures which were collected from case notes included: clinical status and medication usage at contact with clinical service, employment status, outpatient clinic compliance, relapse rate and in-patient hospital status, after 12 months. Three hundred and seventeen patients between ages 15 and 55 years who had made first contact with the psychiatric service in Jamaica in 1992 received a computer diagnostic programme for the present status examination (CATEGO) diagnosis of schizophrenia. The majority 197 (62) were treated at home, and 120 (38) were admitted to hospital for treatment. Two hundred and sixty-four (83) were still being seen after one year. The relapse rate was 13 (41 patients), higher for admissions (24, 20) than for those treated at home (17, 9; p < 0.001). The relapse rate was higher for patients brought into care by the police and mental health officers (p < 0.005). One hundred and thirty-five (43) were in gainful employment within the 12-month period of follow-up, contrasted with the 40 unemployment rate for the 2.4 million population of the island (chi square = 39.322, p < 0.001). There was a self-reported use of medication in 213 (67) patients, with 142 (45) on monthly intramuscular depot medication. The low relapse rates and good outcome measures after 12 months of first service contact with schizophrenia are related to high levels of gainful employment and good intramuscular medication compliance. The favourable short-term outcome in Jamaica does not correspond to the high relapse rate for this condition found in African Caribbeans in the UK.

Microdeleción del cromosoma Y en paciente infértil oligozoopérmico severo / Microdeletion of Y chomosome in severe olygozoospermic infertile patient

We are reporting a 37 year old male with severe oligozoospermia and a history of infertility for thirteen years and surgery for severe unilateral varicocele. The hormonal levels for FSH, LH and T, and karyotype were within the normal range. Multiplex PCR revealed the presence of a de novo microdeletion in the azoospermia factor (AZF) c region involving the deleted in azoospermia (DAZ) and basic protein Y-2 (BPY2) genes. These results suggest that severe oligozoospermia should be considered for the screening of microdeletions of Yq involving the AZFc region even in the presence of a varicocele

Molecular Characterisation of a Putative Endogenous Retrovirus cDNA Isolated from Human Placental Tissue

The human genome comprises of abundant DNA sequences related to endogenous retroviruses (ERV) and a variety of solitary long terminal repeats (LTRs). Substantial numbers of intact retroviral particles have been detected by electron microscopy in normal human placental villous tissue particularly in syncytiotrophoblast. Understanding the molecular structure; organisation and distribution of these ERV sequences may lead to elucidation of their possible dual function at the foetal-maternal interface; proliferation and differentiation of cytotrophoblast and induction of local pregnancy-associated immune suppression thus allowing survival of the foetal allograft. In this study; antibody probes were used to screen a human placental expression library and cDNA clones isolated were characterized by polymerase chain reaction; Southern blot hybridisation; DNA cloning and partial nucleotide sequencing. A specific 1.7kb-cDNA clone was isolated from a human placental expression library. Further characterisation showed this clone represents a single copy gene; approximately 9-10kb and did not hybridise to the env region of ERV3 human endogenous retrovirus. The 1.7kb-cDNA clone may represent a provirus co-expressed with cellular sequences

Receptores de membrana y sus mecanismos enzimáticos de acción: patologías endocrinas asociadas / Membrane receptors, their enzymatic mechanisms of action and associated endocrine diseases

The cell, as a functional unit of a living individual, has the capacity to recognize signals from the extracellular compartment and to respond to these signals in a specific, precise and characteristic way. This review analyzes some membrane receptor mediated processes, characterized by a complex chain of events from the external signal to the induction of specific genes. Additionally, some endocrine diseases associated with molecular defects in some of these stages are analyzed

Nurses' role in pain management.

In the first part of this article (NJI, August, 1998), the author defined 'Pain' and dwelt on Pain Characteristics, Pain Components, Pain Theories and some Factors Affecting Pain. In this concluding part she describes other factors and goes on to deal with the issues regarding assessment of the pain experience and the aspect of precention of intensification of pain and the Nurses' role in providing pain relief.