HLA molecular study of patients in a public kidney transplant program in Guatemala.

Guatemala is a country located in Central America, and while it is one of the most populated countries in the region, the genetic diversity of the population has been poorly analyzed. Currently, there are no analyses of the distribution of human leukocyte antigen (HLA) system alleles in mixed ancestry (i.e., ladino) populations in Guatemala. The HLA system exhibits the most extensive polymorphism in the human genome and has been extensively analyzed in a large number of studies related to disease association, transplantation, and population genetics (with particular importance in the understanding of diversity in the human population). Here, we present HLA typing data from 127 samples of unrelated individuals from the kidney transplant program of the San Juan de Dios General Hospital (Guatemala City) using a PCR-SSOP-based (PCR-sequence specific oligonucleotide probes) typing method. We found 16 haplotypes that accounted for 39.76 % of the total haplotype diversity, of which thirteen have been reported previously in Native American populations and three have been reported in European populations. The analyses showed no deviations from Hardy-Weinberg equilibrium, and admixture estimates calculated with k = 3 ancestral components showed that Native American was the most represented component, followed by the European component. The African component was less prominent in the Guatemala mixed ancestry sample in comparison to samples from other countries in Central America. The HLA-based admixture results for Central America showed a continuum in the distribution of Native American, European and African ancestries throughout the region, which is consistent with the complex demographic history of the region.

Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel.

Osteosarcoma (OS) is a malignant bone tumor, with a peak of incidence in the second decade of life and possibly associated with the presence of germline mutations. Besides, clinicians have pointed to a second, rarer group of patients that develops OS before 10 years old. Here we access, through next-generation sequencing (NGS) strategy, the genetic alterations present in OS and blood samples from patients diagnosed before and during the second decade of life. A custom NGS panel, designed for the main alterations described in childhood and adolescence neoplasms, named Oncomine Childhood Cancer Research Assay (OCCRA©), was used. Of all 84 OS samples investigated, 42 (50%) presented some somatic variant, with TP53, MYC, CDK4, RB1 and PDGFRA genes harboring the most observed genetic variants. MYC CNVs were more frequent in tumors from patients diagnosed before 10 years old (X21= 5.18, p = 0.023). Additionally, patients diagnosed during the second decade of life presented a higher percentage of somatic and germline variants. Germline variants in TP53 and RB1 were found in 5 of the 11 (45.5%) patients analyzed. Clinical variables and tumor histopathological characteristics were also collected and correlated with our molecular findings.

Curva de aprendizaje para el diagnóstico ecográfico específico de masas anexiales / Learning curve for the specific ultrasound diagnosis of adnexal masses

OBJETIVO: Determinar el tiempo que requiere una curva de aprendizaje para diagnóstico ecográfico específico histopatológico en masas anexiales basándonos en cálculos estadísticos no influidos por la prevalencia según diferentes grados de experiencia. MÉTODOS: Estudio observacional, descriptivo, transversal. Se estudiaron imágenes de 108 masas anexiales. La prueba estándar de oro fue el reporte histopatológico definitivo. Se comparó el rendimiento diagnóstico de 4 examinadores con la siguiente experiencia en diagnóstico ecográfico de patología anexial: A > 20 años, B ≤ 20 hasta > 10 años, C ≤ 10 hasta > 5 años y D ≤ 5 años, analizando solo imágenes y sin datos clínicos de las pacientes, para emitir un diagnóstico específico a libre escritura. RESULTADOS: Prevalencia de masas malignas 17,2 % (15/87). Nivel de confianza en los examinadores se consideró según falta de respuesta diagnóstica: alto (<6 %) con experiencia de más de 10 años y moderado a bajo ≤ 10 años. Examinadores con más de 5 años siempre mostraron likelihood ratio positivo mayor a 10, exactitud diagnóstica mayor a 90 % y Odds ratio diagnóstica mayor a 46, no así para examinador con menor tiempo de experiencia, quién presentó resultados con mala utilidad clínica. El cambio de probabilidad de acierto específico pre-test a post-test mejoró consistentemente con los años de experiencia. CONCLUSIÓN: Se necesitarían más de 10 años de experiencia con especial dedicación a ecografía ginecológica avanzada para un rendimiento diagnóstico específico deseado junto con alta confianza en ecografía de masas anexiales.

OBJECTIVE: To determine the time required for a learning curve of histopathological specific ultrasound diagnosis in adnexal masses based on statistical calculations not influenced by prevalence according to different degrees of experience. METHODS: Observational, descriptive, cross-sectional study. Images of 108 adnexal masses were studied. The gold standard test was the definitive histopathological report. The diagnostic performance of 4 examiners with the following experience in ultrasound diagnosis of adnexal pathology: A > 20 years, B ≤ 20 to > 10 years, C ≤ 10 to > 5 years and D ≤ 5 years was compared, analyzing only images and blinded of clinical data of the patients, to issue a specific diagnosis with free writing. RESULTS: Prevalence of malignant masses 17.2% (15/87). The level of confidence in the examiners was considered according to the lack of diagnostic response: high (<6%) with experience of more than 10 years and moderate to low ≤ 10 years. The examiners with more than 5 years always showed likelihood ratio positive greater than 10, diagnostic accuracy greater than 90% and diagnostic Odds ratio greater than 46, not so for the examiner with less experience time who presented results with little clinical utility. The change in specific probability from pre-test to post-test improved consistently with years of experience. CONCLUSION: More than 10 years of experience with special dedication to advanced gynecological ultrasound are probably needed for a desired specific diagnostic performance coupled with high confidence in adnexal mass ultrasound.

Carcinoma de células escamosas de piel: serie de casos / Carcinoma of squamous cells of skin: series of cases

Resumen Introducción: El cáncer de células escamosas (CCE) es el segundo cáncer de piel más frecuente. Sin embargo, no hay publicaciones en Chile sobre el tema. Objetivo: Investigar características sociodemográficas y clínicas del CCE en la Región de Coquimbo, Chile. Material y Métodos: Serie de casos de pacientes con diagnóstico de CCE de piel tratados en el hospital de Coquimbo, entre enero de 2006 y diciembre de 2015. Criterios de inclusión: diagnóstico histológico definitivo de CCE de piel. Criterio de exclusión: 1.- seguimiento posoperatorio menor de 12 meses; 2.- operado en otro hospital; 3.- sometido a otro tratamiento previo a la cirugía; 4.- metástasis cutáneas de un CCE mucoso; 5.- CCE con metástasis a distancia. Variables independientes: edad, género, localización, tamaño, linfonodos comprometidos, residencia costera-interior. Variables dependientes: recurrencia, factores de recurrencia, letalidad. Análisis estadístico: descriptivo y analítico con el programa SSPS. Resultados: Se registraron 2.202 casos de cáncer de piel, 1.487 basocelular (67,5%), 181 melanomas (8,2%) y 534 CCE (24,2%). 236 pacientes tienen datos completos y constituyen el informe, 153 hombres (64,8%) y 83 mujeres (35,2%). Edad: 75,5 años ± 11,7 (extremos 46-94). La localización es: cabeza 158 casos (66,9%), otras áreas expuestas 47 (20%) y no expuestas 31 (14,1%). En cabeza la localización más frecuente es mejilla 40 casos (25%), frente 29 casos (12,3%). En 119 casos (50,4%) el cáncer se presenta ulcerado y en 117, no ulcerado (49,6%); diámetro del tumor 22 milímetros (rango 3-100 mm). En 10 casos hay linfonodos clínicos (4,2%). En 12 casos (5,9%) se extirpa LNC, 2 positivos. 201 casos presentan bordes histológicos libres (85,2%) y en 35 casos, borde comprometido (14,8%). Tasa de recurrencia local 8,5% (20 casos) y ganglionar 2,1% (5 casos). Recidiva del cáncer se asocia a borde histológico comprometido: P = 0,001, IC 95% 3,12-12,19 y ulceración p = 0,01, OR 4,63; IC 1,59-13,50. Seguimiento de 36 meses (rango 12-228). Letalidad 2,56%. Conclusión: El CCE de piel extirpado precozmente con confirmación histológica de erradicación tiene buen pronóstico.

Introduction: Squamous skin cancer (SSC) is the second most frequent skin cáncer, nevertheless reports about this issue are not published in Chile. Objetive: To investigate social, demographics, and clinic characteristics of SSC in semidesertic Coquimbo Region, Chile. Material and Methods: serie of patients diagnosed and treated in Coquimbo hospital between January 2006 and December 2015. Inclussion criteria: 1.- histopathological confirmation of SSC. Exclusion criteria: 1.- follow up lesser than 12 months; 2.- operated in another hospital; 3.- submitted to another treatment prior to surgery; 4.- skin metastasis of mucous squamous carcinoma; 5.- patients with distant metástasis. Independent variables: age, gender, tumor site, tumor size, clinical lymph nodes, shore or valley residency. Dependent variable: recurrency frecuence, factors of recurrency, letality. Statistical analysis: descriptive and analytical by SSPS program. Results: 2.202 skin cancer cases were registered, 1.487 basal cells carcinoma (67.5%), 181 melanoma (8.2%) and 534 squamous cells carcinoma (24.2%). 236 patients with complete data are included in this report. There were 153 men (64.8%), and 83 women (35.2%). Mean age was 75.5 years old ± 11.7 (range 46-94). Primary site was: head 158 patients (66.9%), other sun exposed areas 47 patients (20%), and non exposed areas 31 patients. Cheek and front were the most frequents head site with 40 cases (25%) and 29 cases (12.3%), respectively. In 119 cases (50.4%) SCC was ulcerated, and 117 cases was not; primary tumor diameter was 22 millimeters (range 3-100). Clinical lymph nodes were primarily positives in 10 patients, (4.2%). In 12 cases with negative lymph nodes, sentinel limph node was resected. 2 were positives. Histological borders were tumor free in 201 patients (85.2%) and, 35 cases (14.8%) had positive histological borders. Local recurrence incidence was 8.5% (20 cases). Limph nodes recurrence was 2.1% (5 cases). Cancer recurrence was associated with histological positive borders P = 0.001, IC 95% 3.12-12.19, and ulcerated tumor p = 0.01, OR 4.63; IC 1.59-13.50. Letality was 2.56%. Mean follow up was 36 months (range 12-228 months). Conclusions: SSC has a good prognosis when primary tumor is resected early, with free histological borders resection.

Nevus melanocítico congénito, a propósito de un caso / Congenital melanocytic nevi, case report

INTRODUCCIÓN: Los nevus melanocíticos son proliferaciones benignas de células névicas. Los nevus melanocíticos congénitos (NMC) representan el 1 por ciento del total y según su tamaño se clasifican en pequeños, medianos o gigantes. PRESENTACIÓN DEL CASO: Paciente de sexo masculino, 6 años de edad, con NMC gigante en forma de traje de baño. Controlado en policlínico de Dermatología desde su nacimiento, se mantuvo en observación realizándose exámenes imagenológicos, biopsias de piel y nódulos. En reunión multidisciplinaria respecto al caso, se plantea tratamiento quirúrgico incisional por etapas. DISCUSIÓN: El manejo de los NMC es controversial, se describen múltiples terapias que incluyen escisión, dermoabrasión, ablación con láser, etc. Pero para disminuir el riesgo de malignización la única efectiva es la escisión, no siempre posible en los NMC gigantes. Para los NMC de pequeño o mediano tamaño se recomienda un manejo individualizado con evaluaciones periódicas con dermatoscopía. En el caso de los NMC gigantes la mayoría de los autores concuerda en una extirpación temprana agresiva para disminuir el riesgo de malignización. En el caso clínico expuesto, el paciente presenta factores de riesgo para las dos principales complicaciones, por lo que se plantea el tratamiento quirúrgico. La remoción completa frecuentemente necesita de escisión por partes, usando expansores de piel e injertos dérmicos. Independiente de la terapia que se elija hay que considerar la necesidad del apoyo psicológico en este tipo de lesiones.

INTRODUCTION: Melanocytic nevi are benign proliferations of nevus cells. Represent 1 percent of all melanocytic nevi and are classified by size into small, medium or giant. CASE REPORT: Male patient, 6-year-old with giant congenital melanocytic nevi (CMN) as swimsuit. Controlled in the Department of Dermatology at birth, was kept under observation imaging tests, and skin biopsies performed nodules. In multidisciplinary meeting on the case, incisional surgical treatment arises in stages. DISCUSSION: The management of NMC is controversial; multiple therapies are described, including excision, dermabrasion, laser ablation, etc. But excision is the only way to reduce the risk of malignancy, not always possible in the giant NMC. NMC for small to medium size individualized management with periodic evaluations with dermoscopy is recommended. In the case of the giant NMC most authors agree on an aggressive early removal to reduce the risk of malignancy. In the case report, the patient had risk factors for the two major complications, so that surgical treatment is considered. Complete removal often requires cleavage by parts, using skin expanders and skin grafts. Independent of therapy you choose must consider the need for psychological support in this type of injury.

Connexins and cyclooxygenase-2 crosstalk in the expression of radiation-induced bystander effects.

BACKGROUND: Signalling events mediated by connexins and cyclooxygenase-2 (COX-2) have important roles in bystander effects induced by ionising radiation. However, whether these proteins mediate bystander effects independently or cooperatively has not been investigated. METHODS: Bystander normal human fibroblasts were cocultured with irradiated adenocarcinoma HeLa cells in which specific connexins (Cx) are expressed in the absence of endogenous Cx, before and after COX-2 knockdown, to investigate DNA damage in bystander cells and their progeny. RESULTS: Inducible expression of gap junctions composed of connexin26 (Cx26) in irradiated HeLa cells enhanced the induction of micronuclei in bystander cells (P<0.01) and reduced the coculture time necessary for manifestation of the effect. In contrast, expression of connexin32 (Cx32) conferred protective effects. COX-2 knockdown in irradiated HeLa Cx26 cells attenuated the bystander response due to connexin expression. However, COX-2 knockdown resulted in enhanced micronucleus formation in the progeny of the bystander cells (P<0.001). COX-2 knockdown delayed junctional communication in HeLa Cx26 cells, and reduced, in the plasma membrane, the physical interaction of Cx26 with MAPKKK, a controller of the MAPK pathway that regulates COX-2 and connexin. CONCLUSIONS: Junctional communication and COX-2 cooperatively mediate the propagation of radiation-induced non-targeted effects. Characterising the mediating events affected by both mechanisms may lead to new approaches that mitigate secondary debilitating effects of cancer radiotherapy.

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

PP008. Lipotoxicity and preeclampsia: A probable correlation (preliminary results).

INTRODUCTION: The impact of preeclampsia (PE) of pregnancy is seen as a global concern. Despite their importance, PE does not have well-established causes. Several studies point to obesity as a predisposing factor for PE [1]. In a systematic review Duckitt and Harrington showed that in women with BMI⩾30 the relative risk of developing PE is equal to 2.1 [2]. Bianco et al. demonstrated that the chance of patients with BMI⩾35 developing PE is more than 4 times [3]. Furthermore, it is believed that the intracellular accumulation of triglycerides cause mitochondrial dysfunction, more electron transport and generation of ROS (Reactive Oxygen Species) [4], causing a harmful effect on the endothelium. OBJECTIVES: To compare the incidence of potential lipotoxicity markers among normal pregnant women and with pre-eclampsia. METHODS: A case-control study, including pregnant women from October 2011 to January 2012 at Hospital Guilherme Álvaro in Santos/Brazil. The study group consisted of 27 mothers with pre-eclampsia, according to the criteria of NHBPEP (2000) and the control group consisted of 27 mothers with normal pregnancy, who gave birth vaginally, at term without hypertension. The exclusion criteria were diagnosis of collagen diseases, smoking, diabetes, twin pregnancy and fetal malformations. Blood samples were collected immediately after delivery and the results were analyzed in conjunction with maternal data, according to the following variables: age, body mass index (BMI), serum cholesterol total and fractions, glucose, triglyceride and creative protein. Analysis of SF data was performed by calculating the odds ratio adopting an hypothesis rejection level of 0.05. RESULTS: The PE group had BMI>30 (or), serum triglycerides>150 (or) and LDL cholesterol>100 (or) more frequently than normal mothers, and as regards statistical significance comparing the age of the women, glucose level, HDS cholesterol, there was no significant difference between the groups. CONCLUSION: In pregnancy, lipotoxicity reduces the ability of trophoblastic invasion, causing maternal systemic endothelial and placental dysfunction causing alterations in metabolic functions. All such changes maintain a close relationship with the pathophysiology of PE. Monitoring pregestational period of obese patients or those with lipid disorders is part of the medical arsenal against PE by monitoring and advising on the best time to conceive.

PP044. Profile of pregnant women with pre-eclampsia treated in priority area.

INTRODUCTION: The maternity mortality rate in the Santos lowlands region, priority region of São Paulo/Brazil, is higher when compared to regions in the state of São Paulo. The hypertensive disorders are implicated in approximately 20% of death. Severe preeclampsia (PE) is recognized as the frequent diagnosis associated with maternal and fetal ominous outcomes. The recognition of potential risk support antenatal intervention which could anticipate the installation of catastrophic results. Identifying the epidemiological profile of women who may present with this evolution can guide public health policies and actions of the professionals involved in caring for these women avoiding preformed concepts and contributing to the recognition of local reality situation. OBJECTIVES: Identify the epidemiological profile of women affected by severe PE. METHODS: A descriptive study involving 46 pregnant women admitted to specialized hospital for high-risk pregnancy with the diagnosis of severe PE according to the criteria of NHBPEP (2000), as: blood pressure ⩾160/110mmHg, proteinuria 2.0g/24h or +2 dipstick, serum creatinine >1.2mg/dl (new onset), platelets <100,000/mm(3), microangiopathic hemolysis (increased lactate dehydrogenase), elevated alanine aminotransferase or aspartate aminotransferase, persistent headaches or other cerebral or visual disturbance, persistent epigastric pain or eclampsia in the period from January/2008 to November/2010. RESULTS: The average age of the pregnant women was 25.5years (±6.5), 11 women were multiparous and nulliparous and 35 (76.1%), the average gestational age at admission was 34 4/7, developing to eclampsia and/or HELLP syndrome were 07 women (15.2%), admission often occurred before the installation of labor in (93.5%) had a previous diagnosis of chronic hypertension (30.4%) and in all cases magnesium sulfate administration with an average length of 32h (±16.6h). CONCLUSION: The occurrence of severe PE was more common in nulliparous women at the age of 25years, admitted in prematurity and not in preterm labor. The outcome of seizure and/or HELLP has a considerable impact. The association of chronic hypertension with severe PE is more than 1/4 of the cases. These data are equivalent to other areas of Brazil and may contribute to emphasize the practice of prenatal acting that can recognize and pre-comment possible adverse developments and attitudes aimed at intercepting the process.

PP045. Maternal mortality due to hypertension: A look at the puerperium.

INTRODUCTION: Maternal death is the death of a woman during pregnancy within 42days after delivery. It is one of the most serious violations of human rights of women, because it is a preventable tragedy in 92% of cases and occurs mainly in developing countries. Brazil, a country of continental dimensions has the challenge of reducing maternal deaths; one of the priority regions is Santos, a city in the state of São Paulo. It is felt that efforts are made to the adoption of care that can minimize risks during complicated pregnancy with hypertensive disorders, but not always this service is offered proportionally to postpartum. Perhaps the erroneous concept that the delivery is capable of quickly balancing the harm of maternal hypertensive disorders is implicated in reducing postpartum surveillance, exposing this group of women to undesirable outcomes. OBJECTIVES: Analyze the percentage of postpartum maternal deaths until 42days after delivery for hypertensive disorders in Santos in the period of 1999-2009. METHODS: Data were provided by the Ministry of Health of Brazil in www.datasus.gov.br (accessed February 2012). The number of maternal deaths was divided into maternal death in pregnancy, delivery and abortion and maternal death in puerperium up to 42, considering all causes of maternal death and identifying the proportion of deaths due to hypertensive syndromes. RESULTS: According to the general causes of death, more women die during pregnancy, delivery and abortion (69.7%) than postpartum (30.3%) and hypertensive disorders account for 20% of these outcomes. Analyzing the proportion of deaths due to hypertensive disorders in each period, we observed that during pregnancy the disorder accounts for 16.5% of all causes, however, the percentage reaches 30.3% in the puerperium. CONCLUSION: The increase of death in postpartum due to hypertensive syndromes, regarding all general causes, shows the necessary action to be done by the professional team to offer continuity care in and out of hospital in this period, considering that the challenges persist even after delivery.

PP139. The elective prematurity birth and its perinatal effects of syndromes in hypertensive pregnancy.

INTRODUCTION: The hypertensive pregnancy disorders affect 7.5% of Brazilian women, being a major cause of maternal and perinatal morbidity and mortality, affecting 6-10% of primigravidae. They represent a significant cause of prematurity birth, with elective responsible for 20-30% of premature births, with higher incidence of neonatal morbidity due to high rates of complications in short and long term. OBJECTIVES: Identify the repercussions in a short time, on caused by elective obstetric parity decisions in women with hypertensive neonatals pregnancy syndromes. METHODS: Retrospective analysis of medical records of pregnant women admitted to Hospital Guilherme Álvaro, in the city of Santos/SP - Brazil, between Jan/2005 to Jan/2012. Calculations were performed for dichotomous variables and an epidemiological analysis with data obtained on pregnant women with hypertension with a single fetus, subjected to delivery before 37 weeks. Classification of Hypertensive Syndromes followed the criteria of the NHBPEP - 2000, after blood pressure measurements were calibrated following standard technique: Chronic hypertension (CH), Pre-eclampsia, superimposed pre-eclampsia and late gestational hypertension and multiple births were excluded, premature labor and fetal malformations, totaling 102 cases. RESULTS: Throughout the study, it was observed that 67.6% are appropriate for gestational age, birth weight 1500-2500grams (43.1%). Support in the neonatal were excluded ICU was necessary in the vast majority (75.7%), and length of stay exceeding 28 days in 29.3% of cases. The main indication was respiratory distress syndrome (63.6%) requiring intubation orotraquel and jaundice in 18.2% of premature infants was a common comorbidity (39.4%). Even with all the support in-hospital, the neonatal mortality was present in 8.1% of cases. The main indication of the resolution was for obstetric maternal complications (61.8%) where pre-eclampsia and preeclampsia superimposed were expressions which caused more frequent (42.2 and 40.2% respectively), showing the level of proteinuria between two -4.9g (32.1%). Gestational age at delivery was 32-34 weeks (43.1%), corticosteroid therapy was not performed (54.9%) and cesarean delivery was (94.1%). The most frequent age group was 20-34 years (53.9%), Caucasian (54.9%), primigravida (62.7%) and less than five prenatal visits (36.3%) were performed. CONCLUSION: The hypertensive pregnancy are risk factors for preterm elective delivery and is more frequent before 34 weeks, resulting in high perinatal morbidity and mortality, especially in cases of preeclampsia with severe clinical presentation and long hospital stays, with consequent costs and conducting excessive procedures in the neonate. Enable early referral to specialist services and consequent prenatal follow up, enables the adoption of early action, such as clinical support in a timely manner to facilitate the handling of cases which are still stable, optimizing the opportunity for administration of antenatal corticosteroids. It is necessary to review decisions about the mode of delivery in prematurity related to hypertension cases, with the aim of increasing the occurrence of vaginal deliveries.

PP147. Prevalence of hypertensive syndromes according to pregnancy age.

INTRODUCTION: The decision of a woman to get pregnant at later age of her reproductive cycle has be a phenomenon around the world. Epidemiology data show frequent increase of clinical complications in direct proportion in advanced age motherhood, hypertensive disturbances being more prevalent. OBJECTIVES: Analyse the prevalence of hypertensive syndromes in pre-determined age groups at Hospital Guilherme Álvaro in Santos, São Paulo, Brazil showing the different segments in each one. METHODS: From data collected in the outpatient department of Hospital Guilherme Álvaro of High Risk Pre-natal between 04/06/2008 and 30/05/2011, a prevalence transversal study was carried out where data were obtained from 628 patients aged between 16 and 46years. Procedures of homogeny analysts were set out, always collecting data such as age and disorder for high risk gestation. According to age, patients were divided into groups: precocious (up to 19years old), middle age (between 20 and 34) and late pregnancies (over 35). RESULTS: In the precocious pregnancies, clinical illnesses/no hypertension (31%) were observed in first place, 25% (8) twin pregnancy in second place, 19% (6) showed hypertensive disturbances. Concerning pregnancies between 20 and 34years old, 36% (144 patients) showed hypertensive syndromes, 23% (92 patients) showed endocrine disturbances, 22% (90 patients) showed clinical illnesses/no hypertension, and 9% twin pregnancy. Regarding late pregnancies, the most frequent disturbance was isolated hypertensive syndromes: 44% (88 patients) in first place, only endocrine disturbances, 24% (47 patients) in second place followed by association between hypertensive syndromes and endocrinopathy with 13% (26 patients). CONCLUSION: About precocious pregnancies, greater prevalence showed clinical illnesses/no hypertension, whereas middle age and late pregnancies showed greater hypertensive syndrome prevalence, results, which are compatible with other studies, have been observed that due to advance of age, hypertensive syndromes are more frequent. For late pregnancies, the prevalence of clinical illnesses/no hypertension was a lower percentage regarding the other two groups: precocious pregnancies (31%=10 women), middle age pregnancies (22%=90 women), and late pregnancies (2%=7 women). Considering the fact that the occurrence of pregnancy is more and more late in life, it can be concluded that the professionals must be prepared to attend pregnancies on women with hypertensive disturbances and their eventual complications.

PP166. HELLP syndrome: Challenges for establishing diagnostic criteria.

INTRODUCTION: Preeclampsia is a public health problem which may manifest as pre-eclampsia (hypertension, proteinuria and/or edema) and eclampsia (convulsive crises and rarely coma in pregnant women with previous pre-eclampsia). But the pathology of hypertensive disease of pregnancy can present different clinical forms. Within that spectrum is HELLP syndrome: hemolysis (H), elevated liver enzymes (EL) and thrombocytopenia (LP). OBJECTIVES: To assess the diagnostic criteria in the literature adopted for HELLP syndrome. METHODS: A literature review on the Virtual Health Library with the keywords "HELLP syndrome" and "diagnosis" found 674 citations. Six hundred and thirty-four dismissed for failing to engage with the proposed question, and 43 articles remained. Twenty seven articles were excluded because of the language, unable in Latin America, letters, case report and articles published prior to 1999. Sixteen original articles were included. Eleven reviews, one prospective study, two cohorts, one retrospective cohort study and a cross. Studies were classified according to degree of recommendation and level of evidence. RESULTS: The term clinical and laboratory markers were varied and their cut-off levels differ among the authors. The appearance of eclampsia, pain in the upper abdomen, nausea and significant proteinuria and other maternal morbidities were more frequent in patients with HELLP syndrome. The levels of lactic dehydrogenase, AST, and uric acid were further elevated in women with HELLP syndrome guarding correlation with the prognosis of the case. There is no consensus for the interpretation of laboratory values that may represent the most widespread occurrence of parameters: hemolytic anemia, elevated liver enzymes and thrombocytopenia. Other morbidities may have clinical signs, symptoms and laboratory abnormalities that mimic the syndrome. CONCLUSION: There are many questions to establish standard diagnostic criteria for all patients with HELLP syndrome, necessitating studies consistent with significant population numbers to establish the main signs and symptoms and try to reach consensus on the best markers for the diagnosis and its proper indexes cutting.

Cáncer de mama inflamatorio / Breast cancer intrainflamatorio

El cáncer de mama inflamatorio es una patología poco frecuente, sin embargo, su importancia radica en la agresividad de su evolución. A nivel nacional no existe estadística certera respecto al porcentaje del cáncer inflamatorio de mama como tal. En el Hospital Base de Valdivia, constituye el 3,3 por ciento de los carcinomas mamarios invasores según una revisión de los últimos 3 años. El diagnóstico de esta patología está basado en la sospecha clínica, en pacientes que presenten eritema, edema, piel de naranja, nódulos y/o induración mamaria. La histopatología del tumor primario y de la piel permite la confirmación diagnóstica. En cuanto al tratamiento, en la actualidad existe consenso de que las pacientes deben ser sometidas a un tratamiento multimodal, éste consiste en quimioterapia neoadyuvante, para luego efectuar la terapia locorregional. Lo particular de este tipo de cáncer, es que posee características biológicas intrínsecas de rápida progresión y alto poder de diseminación, lo que le confiere un mal pronóstico.

Inflammatory breast cancer is a rare disease, but its importance lies in the aggressiveness of its evolution. At the national level there is no accurate statistics on the percentage of inflammatory breast cancer as such. In the Base Hospital of Valdivia, constitute 3.3 percent of invasive breast carcinomas according to a review of the past 3 years. The diagnosis of this disease is based on clinical suspicion in patients presenting with erythema, edema, cellulitis, nodules, and / or breast induration. The histopathology of the primary tumor and skin allows diagnostic confirmation. As for treatment, there is now consensus that patients should be subjected to a multimodal treatment, starting with neoadjuvant chemotherapy and then perform locoregional therapy. The particularity of this type of cancer is that it has intrinsic biological characteristics of rapid progression and high power spread, which gives a poor prognosis.

Optimization of nisin production by Lactococcus lactis UQ2 using supplemented whey as alternative culture medium.

Lactococcus lactis UQ2 is a nisin A-producing native strain. In the present study, the production of nisin by L. lactis UQ2 in a bioreactor using supplemented sweet whey (SW) was optimized by a statistical design of experiments and response surface methodology (RSM). In a 1st approach, a fractional factorial design (FFD) of the order 2(5-1) with 3 central points was used. The effect on nisin production of air flow, SW, soybean peptone (SP), MgSO(4)/MnSO(4) mixture, and Tween 80 was evaluated. From FFD, the most significant factors affecting nisin production were SP (P = 0.011), and SW (P = 0.037). To find optimum conditions, a central composite design (CCD) with 2 central points was used. Three factors were considered, SW (7 to 10 g/L), SP (7 to10 g/L), and small amounts of added nisin as self-inducer (NI 34.4 to 74.4 IU/L). Nisin production was expressed as international units (IU). From RSM, an optimum nisin activity of 180 IU/mL was predicted at 74.4 IU/L NI, 13.8 g/L SP, and 14.9 or 5.11 g/L SW, while confirmatory experiments showed a maximum activity of 178 +/- 5.2 IU/mL, verifying the validity of the model. The 2nd-order model showed a coefficient of determination (R(2)) of 0.828. Optimized conditions were used for constant pH fermentations, where a maximum activity of 575 +/- 17 IU/mL was achieved at pH 6.5 after 12 h. The adsorption-desorption technique was used to partially purify nisin, followed by drying. The resulting powder showed an activity of 102150 IU/g. Practical Application: Nisin production was optimized using supplemented whey as alternative culture medium, using a native L. lactis UQ2 strain. Soybean peptone, SW, and subinhibitory amounts of nisin were successfully employed to optimize nisin production by L. lactis UQ2. Dried semipurified nisin showed an activity of 102150 IU/g.

The influence of thyroid hormones on periodontitis-related bone loss and tooth-supporting alveolar bone: a histological study in rats.

BACKGROUND AND OBJECTIVE: Recent studies have pointed to potentially periodontal risk indicators, however no information is available on the impact of changes in thyroid hormone levels on the progression of periodontitis and on the quality of alveolar bone. Thus, the aim of the present study was to evaluate histologically, in rats, the influence of thyroid hormones on the rate of periodontal bone loss resulting from ligature placement and on the quality of tooth-supporting alveolar bone. MATERIAL AND METHODS: Thirty-six male Wistar rats were randomly assigned to the following groups: healthy (control, n = 12), hypothyroidism (n = 12) and hyperthyroidism (n = 12). Once alterations were confirmed by total serum levels of triiodothyronine and thyroxine, ligatures were randomly placed around one of the first mandibular molars. Thirty days later, the animals were killed and specimens routinely processed for serial decalcified sections. The parameters assessed were periodontitis-related bone loss, quality of tooth-supporting alveolar bone and the number of cells positive for tartrate-resistant acid phosphatase (TRAP), a marker of bone resorption. RESULTS: At the ligated sites, intergroup analysis revealed that hypothyroidism significantly increased the bone loss resulting from ligature-induced periodontitis (p = 0.02) and the number of TRAP-positive cells on the linear surface of bone crest (p = 0.01). In addition, no significant differences were detected regarding the quality of the bone (p = 0.24) or the number of TRAP-positive cells in the area of the interradicular bone for ligated teeth among the groups (p = 0.17). CONCLUSION: It may be concluded that decreased serum levels of thyroid hormones may enhance periodontitis-related bone loss, as a function of an increased number of resorbing cells, whereas the tooth-supporting alveolar bone seems to be less sensitive to alterations in hormone levels.

Association of EGFR c.2073A>T polymorphism with decreased risk of diffusely infiltrating astrocytoma in a Brazilian case-control study.

Epidermal growth factor receptor (EGFR) gene overexpression has been implicated in the development of many types of tumors, including glioblastomas, the most frequent diffusely infiltrating astrocytomas. However, little is known about the influence of the polymorphisms of EGFR on EGFR production and/or activity, possibly modulating the susceptibility to astrocytomas. This study aimed to examine the association of two EGFR promoter polymorphisms (c.-191C>A and c.-216G>T) and the c.2073A>T polymorphism located in exon 16 with susceptibility to astrocytomas, EGFR gene expression and survival in a case-control study of 193 astrocytoma patients and 200 cancer-free controls. We found that the variant TT genotype of the EGFR c.2073A>T polymorphism was associated with a significantly decreased risk of astrocytoma when compared with the AA genotype [sex- and age-adjusted odds ratio 0.51, 95% confidence interval 0.26-0.98]. No association of the two promoter EGFR polymorphisms (or combinations of these polymorphisms) and risk of astrocytomas, EGFR expression or survival was found. Our findings suggest that modulation of the EGFR c.2073A>T polymorphism could play a role in future therapeutic approaches to astrocytoma.

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile.

OBJECTIVE: Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. Here, we aimed to investigate the clinical features of a seven-generation Brazilian pedigree, which included 715 at-risk family members. DESIGN: Genealogical and geographic analysis was used to identify the MEN1 pedigree. Clinical and genetic approach was applied to characterize the phenotypic and genotypic features of the family members. RESULTS: Our genetic data indicated that a founding mutation in the MEN1 gene has occurred in this extended Brazilian family. Fifty family members were diagnosed with MEN1. Very high frequencies of functioning and non-functioning MEN1-related tumors were documented and the prevalence of prolactinoma (29.6%) was similar to that previously described in prolactinoma-variant Burin (32%). In addition, bone mineral density analysis revealed severe osteoporosis (T, -2.87+/-0.32) of compact bone (distal radius) in hyperparathyroidism (HPT)/MEN1 patients, while marked bone mineral loss in the lumbar spine (T, -1.95+/-0.39), with most cancellous bone, and femoral neck (mixed composition; T, -1.48+/-0.27) were also present. CONCLUSIONS: In this study, we described clinically and genetically the fifth largest MEN1 family in the literature. Our data confirm previous findings suggesting that prevalence of MEN1-related tumors in large families may differ from reports combining cumulative data of small families. Furthermore, we were able to evaluate the bone status in HPT/MEN1 cases, a subject that has been incompletely approached in the literature. We discussed the bone loss pattern found in our MEN1 patients comparing with that of patients with sporadic primary HPT.