Thoracic Duct Decompression for Protein-Losing Enteropathy in Failing Fontan Circulation

An infrequent but devastating late complication of Fontan circulation is protein-losing enteropathy (PLE), which results from unbalanced lymphatic homeostasis. Surgical decompression of the thoracic duct by redirecting its drainage to the pulmonary venous atrium has been introduced recently as a possible treatment. This report describes a single-institution experience with this innovative procedure in 2 patients with failing Fontan circulation with PLE refractory to optimized medical therapy.

Prevalence of cytomegalovirus infection in different patient groups of a urban university in Brazil

This study sought for etndence of previous CMV infection in patients of a general hospital serving the low income population of Rio de Janeiro. An enzyme immunoassay was used to detect anti-CMV antibodies in 713 typical hospital patients classified into eight different groups. Positive tests were found in 87% of pregnant women, 85% of newborns, 61% of pediatric patients, 77% of adolescent patients, 81% of adult patients, 87% of dialysed transplant candidates, 89% of kidney donors, and 92% of patients after transplantation. Depending of the subgroup studied these results carry different meanings and necessitate different clinical approaches. The risk of congenital disease is probably low in view of the reduced number of pregnant women still susceptible to primary infection. The number of primary infections will also be low in transplant recipients. However, those still susceptible will almost certainly acquire the infection from, their donor. Prophylactic CMV matching in kidney transplantation is not a realistic approach due to the low probability of finding pairs of seronegative donors and recipients.

Incidence of anti-toxoplasma antibodies in women with high-risk pregnancy and habitual abortions

Toxoplasmosis is a zoonosis caused by Toxoplasma gondii, an obligate intracellular parasite. In pregnant women on the worldwide scale, there are seroprevalences from 7% to 51.3% and in women with abnormal pregnancies and abortions the seroprevalences vary from 17.5% to 52.3%. In Mexico, seropositivity has been found to vary from 18.2% to 44.8% in women with abnormal deliveries or abortions. This study's aim was to determine the incidence oflgG and IgM anti-Toxoplasma antibodies in women at the Gineco-Obstetrics Hospital of the Western Medical Center of the Mexican Social Security Institute. Three hundred and fifty women with high-risk pregnancies were studied, and 122 (34.9%) were found to be IgG seropositive and 76 (20.7%) were IgM positive. In one group of women with habitual abortions there were 48 (44.9%) with the preseiwe of IgG antibodies and 33 (33-3%) were IgM seropositive. Seropositivity was analyzed according to age, occupation, socio-economic level, eating raw or poorly cooked meat, and living with cats.

Prevalence of IgG and IgM anti-Toxoplasma antibodies in patients with HIV and acquired immunodeficiency syndrome (AIDS)

With the emergence of the human immunodeficiency virus (HIV), in patients with acquired immunodeficiency syndrome (AIDS), Toxoplasma gondii has arisen as an important opportunist pathogenic agent, especcially in the central nervous system, being the most common cause of intracerebral lesions. The incidence of Toxoplasma gondii in HIV-infected patients depends principally on the existence of latent Toxoplasma parasitosis in the population affected. Through the enzyme-linked immunosorbent assay (ELISA), IgG and IgM anti-Toxoplasma antibodies were found in 92 patients of which 46 (50.0%) were IgG seropositive, and only one case (1.0%) had IgM antibodies.Of the 92 patients: 53 were HIV seropositives and 39 had AIDS. The detection and monitoring of anti-Toxoplasma antibodies in HIV patients is essential, since in this group there is a high percentage risk of developing cerebral toxoplasmosis, which is the second cause of death in this type of patients.

Presence of anti-Toxoplasma antibodies in humans and their cats in the urban zone of Guadalajara

Cats are the definitive hosts of Toxoplasma gondii. Infected cats excrete oocysts in their feces, infecting humans and other animals. The objective of the present study was to determine the presence of anti-Toxoplasma antibodies in cat owners and their pets, and determine if there was a relationship between Toxoplasma infection and humans who live with infected cats. IgG anti-Toxoplasma antibodies in sera of 59 cat owners were determined by enzyme-linked immunosorbent assay (ELISA), in 24 sera from their cats, IgG, IgM, and IgA antibodies were found using Burney's ELISA. Thirty-eight (64%) of 59 cat owners were positive to IgG anti-Toxoplasma. Seropositivity for cats was 70.8% IgG, 8.3% IgM, and 62.5% IgA. Cohabitation with cats infected by T. gondii, feeding with leftovers or raw viscera, and lack of control over how their feces were handled are risk factors conducive for humans to become infected by T. gondii.

Toxoplasma antibody and stool parasites in public school children, Rolândia, Paraná, Brazil

The occurrence of toxoplasmosis and enteroparasitosis was studied in 434 children from elementary schools in the rural and urban areas of Rolândia, Paraná State, Brazil. Sera and fecal samples from all the students were submitted to IFA for Toxoplasma gondii and coproparasitological tests, respectively. The children were tested by Amsler grid and 72 of them were examined for the presence of lesions compatible with ocular toxoplasmosis. Some variables were tested but none showed increased risk for toxoplasmosis. The distribution according to sex and age and also same other variables are presented and discussed. Correlations between Amsler's grid test, toxoplama RIFI, occurrence of eyes lesions and enteroparasitosis are also considered.

Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly

Dissertação para obtenção do grau de Mestre em Genética Molecular e Biomedicina

Tbx1 and Bmp2 in the development of the ear, neural crest and pharyngeal system in mice

Dissertation presented to obtain the Ph.D degree in Biology

Rastreio combinado do 1º trimestre e doenças autoimunes : Impacto das variaveis pré-analíticas na avaliação do risco

RESUMO: Contexto: As anomalias congénitas, com particular destaque para as neuploidias , afectam aproximadamente 2% dos recém-nascidos, constituindo causas frequentes de morbilidade e mortalidade. Actualmente, a avaliação do grau de risco para as aneuploidias mais prevalentes (T21, T13, T18) é efectuada através do “Rastreio Combinado do 1º Trimestre”, devendo as grávidas com risco acrescido ser sujeitas a exames invasivos (ex.biópsia das vilosidades coriónicas,amniocentese). Quanto mais qualidade existir num rastreio, menos falsos positivos existirão e menor o número de exames diagnósticos invasivos desnecessários. As doenças autoimunes são doenças inflamatórias crónicas em cuja fisiopatologia se encontram distúrbios da imunidade humoral e celular, dependentes de factores genéticos, hormonais,psicológicos e ambientais. Atingem mais o sexo feminino e durante a idade fértil,podendo influenciar o outcome da gravidez e a saúde neonatal causando significativa morbilidade e mortalidade. O lúpus eritematoso sistémico para além de potencialmente afectado pelas alterações imunoendócrinas fisiológicas da gravidez, associa-se frequentemente a problemas de fertilidade. Recentemente, foi sugerido que as anormalidades ocorridas durante a invasão precoce do sinciciotrofoblasto, resultando em deficiente diferenciação, deficiente maturação e diminuição na produção de hCG, poderão ser o mecanismo fisiopatológico primário para as perdas fetais no primeiro trimestre, nos doentes com SLE. A ocorrência de níveis elevados de hCG total e ß-hCG livre no rastreio para despiste de síndrome de Down do segundo e do primeiro trimestre foi assinalada em grávidas portadoras de lúpus, mas a escassez de estudos comprovativos e a pequena dimensão das amostras estudadas constituiu uma limitação significativa na fidedignidade dos resultados obtidos. Objectivos: O estudo teve como objectivos i. estabelecer valores normativos Portugueses e de distribuição para as MoM’s dos parâmetros séricos do primeiro trimestre, por semana de gestação:(PAPP-A e ß-hCG livre), ii. avaliar a influência que as doenças autoimunes têm sobre as MoM’s individuais dos parâmetros bioquímicos PAPP-A e/ou ß-hCG livre, utilizados no rastreio pré-natal combinado do 1º trimestre, e iii. saber se as doenças autoimunes podem condicionar um aumento da taxa de resultados falsos positivos, com consequente aumento do número de amniocenteses. Metodologia: Estudo longitudinal prospectivo, consistindo num rastreio pré-natal combinado de 1º trimestre para pesquisa de aneuploidias, em duas amostras provenientes do Reino Unido (n= 45,854) e de Portugal (n=3122). Foram avaliados parâmetros socio-demográficos, ecográficos, laboratoriais, e calculados os indicadores de desempenho do rastreio combinado. A execução analítica dos testes bioquímicos séricos (PAPP-A e ß-hCG livre) foi realizada no autoanalisador Brahms Kryptor e no autoanalizador 6000 Delfia Xpress. Compararam-se os grupos autoimune e não autoimune das amostras. Resultados: Relativamente às características populacionais, o grupo auto imune tinha valores significativamente superiores nas variáveis idade materna e idade gestacional. Comparando os grupos com e sem doença autoimune, constatou-se a existência de uma elevação das MoM’s da ß-hCG livre nas grávidas com doença autoimune, nomeadamente nos casos de lúpus eritematoso sistémico. Conclusões: os resultado obtidos reforçam a indicação do rastreio combinado do 1º trimestre certificado pela FMF nas grávidas com doenças autoimunes, nomeadamente para as doentes com LES; no entanto, devem ser calculados e introduzidos factores de correcção no algoritmo de risco, de modo a evitar a subida no número de resultados falso-positivos, e consequentemente a sobre- utilização de métodos invasivos.------------ ABSTRACT: Context: Congenital anomalies, with particular reference to aneuploidias, affect approximately 2% of newborns, and are frequent causes of morbidity and mortality. Currently, the risk evaluation for the most prevalent aneuploidias (T21, T13, T18) is carried out through the “combined first trimester screening”, and pregnant women with increased risk are subjected to invasive tests (e.g. villus biopsy done, amniocentesis). The more quality exists in a screening, less false positives exists and fewer unnecessary invasive diagnostic exams. Autoimmune diseases are chronic inflammatory diseases in whose pathophysiology are immune humoral and cellular disorders, dependent on genetic factors, hormonal, psychological and environmental factors. The disease is more prevalent among females, during the child-bearing age, and may influence the outcome of pregnancy and neonatal health causing significant morbidity and mortality. Lupus Erythematosus in addition to potentially affected by immunoendocrine physiological changes of pregnancy, is often associated with fertility problems. Recently, it has been suggested that the abnormalities that occurred during the early invasion of the syncytiotrophoblast, resulting in insufficient differentiation, deficient maturation and decrease in production of hCG may be the primary pathophysiological mechanism for fetal losses in the first quarter, in patients with SLE. The occurrence of elevated levels of total hCG and free ß-hCG in screening for Down’s syndrome of the second and first trimester was reported in pregnant women with lupus, but the paucity of supporting studies and the small size of the samples studied constituted a significant limitation on the trustworthiness of the results obtained. Objectives: this study aims to i. establish normative values for the serum parameters MoM’s (PAPP-A and free β-hCG) and it’s distribution, in the first trimester, by week of pregnancy; ii. assess the influence that the autoimmune diseases have on the MoM’s of individual biochemical PAPP-A and/or β-hCG, used in antenatal screening combined for the first trimester, and iii. whether the autoimmune diseases may make an increased rate of false positives, with consequent increase in the number of amniocenteses.Methodology: Prospective longitudinal study, consisting of a combined first trimester antenatal screening for aneuploidies lookup in two samples from the United Kingdom (n=45.854) and Portugal (n= 3.122). Socio-demographic, echographic and laboratory parameters were evaluated, and combined screening performance indicators were calculated. The analytical run of serum biochemical tests (PAPP-A and ß-hCG) was held at the Brahms Kryptor and in Delfia Xpress 6000. Comparisons between autoimmune group and non-autoimmune group were made. Results: Relating to population characteristics, the autoimmune group had significantly diferente values in the variables maternal age and gestational age. Comparing the groups with and without autoimmune disease, it was noted that there is an elevation of the MoM’s of free ß-hCG levels in pregnant women with autoimmune disease, particularly in cases of systemic lupus erythematosus. Conclusions: The results obtained reinforce the indication of FMF certified combined screening in pregnant women with autoimmune diseases, notably to the patients with SLE; However, correction factors should be calculated and entered in the risk algorithm, in order to avoid the rise in the number of false positive results, and consequently the over-use of invasive methods.

Neurological disease in HIV-infected patients in the era of highly active antiretroviral treatment: a Brazilian experience

To study characteristics of neurological disorders in HIV/AIDS patients and their relationship to highly active antiretroviral treatment, a cross-sectional study was conducted in an infectious disease public hospital in Belo Horizonte, Brazil, between February 1999 and March 2000. Of the 417 patients enrolled, neurological disease was observed in 194 (46.5%) and a new AIDS-defining neurological event developed in 23.7% of individuals. Toxoplasmosis (42.3%), cryptococcosis meningitis (12.9%) and tuberculosis (10.8%) were the most common causes of neurological complications. The majority (79.3%) of patients were on highly active antiretroviral treatment and these individuals using HAART showed higher CD4 cell counts (p = 0.014) and presented stable neurological disease (p= 0.0001), although no difference was found with respect to the profile of neurological complications. The neurological diseases continue to be a frequent complication of HIV/AIDS and infections are still its main causes in Brazil, even in the highly active antiretroviral treatment era.

Mother-child transmission of Chagas disease: could coinfection with human immunodeficiency virus increase the risk?

A study was conducted on all newborns from mothers with Chagas disease who were attended at Hospital Donación F. Santojanni between January 1, 2001, and August 31, 2007. Each child was investigated for the presence of Trypanosoma cruzi parasitemia through direct examination of blood under the microscope using the buffy coat method on three occasions during the first six months of life. Serological tests were then performed. Ninety-four children born to mothers infected with Trypanosoma cruzi were attended over the study period. Three of these children were born to mothers coinfected with the human immunodeficiency virus. Vertical transmission of Chagas disease was diagnosed in 13 children, in all cases by identifying parasitemia. The overall Chagas disease transmission rate was 13.8% (13/94). It was 100% (3/3) among the children born to mothers with HIV infection and 10.9% (10/91) among children born to mothers without HIV [Difference = 0.89; CI95 = 0.82-0.95; p = 0.0021]. We concluded that coinfection with HIV could increase the risk of vertical transmission of Chagas disease.

Occurrence and risk factors associated with infection by Toxoplasma gondii in goats in the State of Alagoas, Brazil

INTRODUCTION: Goats are considered very susceptible to infection by Toxoplasma gondii and when this occurs during pregnancy, it may cause fetal death with subsequent fetal resorption, abortion, mummification, stillborn or the birth of weak goats. The objective of this work was to determine the occurrence of and identify risk factors for T. gondii infection in goats in different mesoregions in the State of Alagoas. METHODS: The research was conducted on 24 goat breeding farms in 10 municipalities. A total of 454 blood samples were examined for anti-T. gondii antibodies by indirect immunofluorescence antibody test. To evaluate the risk factors of toxoplasmosis in goats, questionnaires were applied analyzing the farm's production system and nutritional, reproductive and sanitary management. RESULTS: Disease occurrence was 39% with 95.8% of farms presenting seropositive animals. Significant associations were observed for mesoregion (OR = 0.23; 95%CI = 0.09 - 0.57), age (OR = 0.36; 95%CI = 0.20 - 0.64), semi-intensive herd management (OR = 8.70; 95%CI = 1.87 - 40.43), access of cats to water provided for goats (OR = 3.38; 95%CI = 1.89-6.02) and cats feeding on placental remnants (OR = 2.73; 95%CI = 1.38 - 5.40). CONCLUSIONS: Toxoplasma gondii infection is disseminated in the State of Alagoas and the adoption of a program that monitors infection foci is required to reduce the risk factors identified in the present study.

Molecular detection of Treponema pallidum sp. pallidum in blood samples of VDRL-seroreactive women with lethal pregnancy outcomes: a retrospective observational study in northern Brazil

INTRODUCTION: Although control measures of maternal and congenital syphilis are available in Brazil, difficulties exist within the healthcare network in providing a laboratory diagnosis of the infection during the prenatal period. The objective of this study was to confirm the presence of Treponema pallidum by PCR in women with positive VDRL serology and lethal pregnancy outcomes, i.e., abortion, stillbirth and neonatal death. METHODS: A retrospective study was conducted on VDRLseroreactive women with lethal pregnancy outcomes admitted to the Fundação Santa Casa de Misericórdia do Pará (FSCM-PA) between January and July 2004. Serum samples and DNA from whole blood were obtained at the time of screening by the VDRL test. These samples were analyzed by IgG ELISA, IgM FTA-Abs and simple PCR (polA). RESULTS: During the study period, 0.7% (36/4,912) of women with lethal pregnancy outcomes presented a positive VDRL test. The polAgene was amplified in 72.7% (24/33) of these women, with 55.6% (20/36) and 94.4% (34/36) presenting IgM and IgG antibodies against T. pallidum, respectively. Comparison of these results showed a significant difference, with agreement between the PCR and IgM FTA-Abs results, suggesting that maternal syphilis was an active infection. No basic cause of death of the conceptus was reported in 97.2% (35/36) of cases. Among women who were submitted to the VDRL test during the prenatal period, only four of the nine seroreactive patients underwent treatment. CONCLUSIONS: The high frequency of syphilis in the group studied indicates the fragility of the service of infection diagnosis, treatment and monitoring, compromising epidemiological control.

Restriction enzyme analysis of the human cytomegalovirus genome in specimens collected from immunodeficient patients in Belém, State of Pará, Brazil

INTRODUCTION: Human cytomegalovirus is an opportunistic betaherpesvirus that causes persistent and serious infections in immunodeficient patients. Recurrent infections occur due to the presence of the virus in a latent state in some cell types. It is possible to examine the virus using molecular methods to aid in the immunological diagnosis and to generate a molecular viral profile in immunodeficient patients. The objective of this study was to characterize cytomegalovirus genotypes and to generate the epidemiological and molecular viral profile in immunodeficient patients. METHODS: A total of 105 samples were collected from immunodeficient patients from the City of Belém, including newborns, hemodialysis patients, transplant recipients and HIV+ patients. An IgG and IgM antibody study was completed using ELISA, and enzymatic analysis by restriction fragment length polymorphism (RFLP) was performed to characterize viral genotypes. RESULTS: It was observed that 100% of the patients had IgG antibodies, 87% of which were IgG+/IgM-, consistent with a prior infection profile, 13% were IgG+/IgM+, suggestive of recent infection. The newborn group had the highest frequency (27%) of the IgG+/IgM+ profile. By RFLP analysis, only one genotype was observed, gB2, which corresponded to the standard AD169 strain. CONCLUSIONS: The presence of IgM antibodies in new borns indicates that HCMV continues to be an important cause of congenital infection. The low observed genotypic diversity could be attributed to the small sample size because newborns were excluded from the RFLP analysis. This study will be continued including samples from newborns to extend the knowledge of the general and molecular epidemiology of HCMV in immunodeficient patients.

Challenge in the management of infective endocarditis with multiple valvular involvement

We describe the case of a 41-year-old man with congenital heart disease and infective endocarditis (IE), who presented multiple vegetations attached to the pulmonary, mitral, and aortic valves. Three valve replacements were performed, but the patient developed an abscess at the mitral-aortic intervalvular fibrosa and died due to sepsis. We briefly discuss the indications for surgery in IE, emphasizing its role in the treatment of uncontrolled infection.