LACK OF ASSOCIATION BETWEEN HERPESVIRUS DETECTION IN SALIVA AND GINGIVITIS IN HIV‑INFECTED CHILDREN

The aims of this study were to compare the detection of human herpesviruses (HHVs) in the saliva of HIV-infected and healthy control children, and to evaluate associations between viral infection and gingivitis and immunodeficiency. Saliva samples were collected from 48 HIV-infected and 48 healthy control children. Clinical and laboratory data were collected during dental visits and from medical records. A trained dentist determined gingival indices and extension of gingivitis. Saliva samples were tested for herpes simplex virus types 1 and 2 (HSV-1 and HSV-2), varicella zoster virus (VZV), Epstein-Barr virus (EBV), and cytomegalovirus (CMV) by nested polymerase chain reaction assays. Thirty-five HIV-infected and 16 control children had gingivitis. Seventeen (35.4%) HIV-infected children and 13 (27%) control children were positive for HHVs. CMV was the most commonly detected HHV in both groups (HIV-infected, 25%; control, 12.5%), followed by HSV-1 (6.2% in both groups) and HSV-2 (HIV-infected, 4.2%; control, 8.3%). The presence of HHVs in saliva was not associated with the presence of gingivitis in HIV-1-infected children (p = 0.104) or healthy control children (p = 0.251), or with immunosuppression in HIV-infected individuals (p = 0.447). Gingivitis was correlated with HIV infection (p = 0.0001). These results suggest that asymptomatic salivary detection of HHVs is common in HIV-infected and healthy children, and that it is not associated with gingivitis.

Achondroplasia and Down’s Syndrome – Case Report of a Rare Association

The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.

DENGUE DURING PREGNANCY: ASSOCIATION WITH LOW BIRTH WEIGHT AND PREMATURITY

The aim of this study was to evaluate the effects of dengue virus infection during pregnancy and its correlation with low birth weight, prematurity, and asphyxia. A non-concurrent cohort study reveals the association of dengue during pregnancy with prematurity and low birth weight, when birth occurred during the maternal-fetal viremia period (p = 0.016 and p < 0.0001, respectively).

Association of Intestinal Malrotation and Bochdalek Hernia in an Adult: a Case Report

Background Late presentations of congenital diaphragmatic hernia are rare and differ from the classic neonatal presentation. The association with other congenital malformations in children, mainly intestinal malrotation, is well documented. The diagnosis of this association in adults is very rare, and depends on a high degree of suspicion. Case presentation We report a case of a 50-year-old female Caucasian patient with a previous history of intestinal malrotation diagnosed in adolescence and treated conservatively. She was referred to the hospital with signs and symptoms of intestinal obstruction. The patient undertook computed tomography that confirmed small bowel obstruction with no obvious cause, and a right subphrenic abscess with right empyema was also present. An exploratory laparotomy was performed that revealed an intestinal malrotation associated with a right gangrenous and perforated Bochdalek hernia. Resection of the affected small bowel, closure of the Bochdalek foramen and the Ladd procedure were carried out. Conclusion This case shows a rare association of two rare conditions in adults, and highlights the challenge in reaching the diagnosis and management options.

PRELIMINARY REPORT ON THE PUTATIVE ASSOCIATION OF IL10 -3575 T/A GENETIC POLYMORPHISM WITH MALARIA SYMPTOMS

Only a small percentage of individuals living in endemic areas develop severe malaria suggesting that host genetic factors may play a key role. This study has determined the frequency of single nucleotide polymorphisms (SNPs) in some pro and anti-inflammatory cytokine gene sequences: IL6 (-174; rs1800795), IL12p40 (+1188; rs3212227), IL4 (+33; rs2070874), IL10 (-3575; rs1800890) and TGFb1 (+869; rs1800470), by means of PCR-RFLP. Blood samples were collected from 104 symptomatic and 37 asymptomatic subjects. Laboratory diagnosis was assessed by the thick blood smear test and nested-PCR. No association was found between IL6 (-174), IL12p40 (+1188), IL4 (+33), IL10 (- 3575), TGFb1 (+869) SNPs and malaria symptoms. However, regarding the IL10 -3575 T/A SNP, there were significantly more AA and AT subjects, carrying the polymorphic allele A, in the symptomatic group (c2 = 4.54, p = 0.01, OR = 0.40 [95% CI - 0.17- 0.94]). When the analysis was performed by allele, the frequency of the polymorphic allele A was also significantly higher in the symptomatic group (c2 = 4.50, p = 0.01, OR = 0.45 [95% CI - 0.21-0.95]). In conclusion, this study has suggested the possibility that the IL10 - 3575 T/A SNP might be associated with the presence and maintenance of malaria symptoms in individuals living in endemic areas. Taking into account that this polymorphism is related to decreased IL10 production, a possible role of this SNP in the pathophysiology of malaria is also suggested, but replication studies with a higher number of patients and evaluation of IL10 levels are needed for confirmation.

Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease Susceptibility

Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.

As perturbações da aquisição e do desenvolvimento da linguagem : um estudo preliminar da prevalência, dos fatores associados e das necessidades de encaminhamento para terapia da fala em crianças de idade pré escolar no concelho de Oeiras

RESUMO - Objetivos: Identificar a prevalência das perturbações da aquisição e desenvolvimento da linguagem (PADL) em crianças dos 3 anos aos 5 anos e 11 meses integradas em instituições de ensino pré escolar do concelho de Oeiras, os fatores associados e as necessidades de encaminhamento para Terapia da Fala. Método: Foi realizado um estudo de prevalência, descritivo e correlacional. A amostra é aleatória estratificada e é constituída por 147 crianças dos 3 aos 5 anos e 11 meses que frequentam o ensino pré escolar, que tenham o português europeu como língua materna e que não apresentem sinalização ou diagnóstico de necessidades educativas especiais. A linguagem foi avaliada através do TALC (SUA-KAY & TAVARES, 2011) e do subteste fonológico TFF-ALPE (MENDES et al., 2009). As informações referentes às características sociodemográficas e aos dados linguísticos foram recolhidas através de uma ficha de caracterização. Para determinação das prevalências foi utilizada a razão de prevalências. O teste do qui-quadrado e o teste de Fisher foram utilizados na comparação das prevalências entre faixas etárias, sexos e natureza da instituição e na verificação de associação entre a presença de PADL e os possíveis fatores determinantes. A regressão logística foi utilizada para verificar a associação entre o nível educacional da mãe e a presença de PADL. Resultados: A prevalência global de PADL é de 14,9%. Nos rapazes a prevalência estimada foi de 19,0% e nas raparigas de 10,3%. Nas crianças de 3 anos não se verificou a presença de PADL, tendo-se encontrado uma prevalência de 23,5% nas crianças de 4 anos e de 14,9% nas de 5. A prevalência de PADL foi de 17,9% nas instituições públicas e de 12,5% nas privadas. Não se verificaram diferenças significativas entre as prevalências por faixa etária, sexo e natureza da instituição (p>0,05). Das crianças identificadas com PADL, 72,7% não têm apoio nem se encontram sinalizadas para terapia da fala e necessitam de ser encaminhadas. O sexo da criança, a idade dos pais, a escolaridade do pai, fatores perinatais, tamanho da família e história de alterações de linguagem na família não se encontraram associadas às PADL (p > 0,05), tendo esta associação sido verificada com a escolaridade da mãe (p < 0,05). As mães com nível educacionais mais elevados nem sempre apresentam um papel protetor de PADL. Conclusões: A prevalência global de PADL vai ao encontro da maioria das prevalências encontradas na literatura, sendo maior no sexo masculino, nas crianças de 4 anos e nas que frequentam o ensino público. A grande maioria das crianças com PADL não estavam sinalizadas como tal. A escolaridade da mãe foi o único fator que se encontrou associado à presença de PADL, não apresentando, no entanto, um valor explicativo totalmente claro.

Biology of Triatominae (Reduviidae Hemiptera) from North of Formosa County (Goiás-Brazil) I. Length of life cycle of Triatoma sordida (Stal. 1859)

In the present paper the life cycle of Triatoma sordida was studied. The mean length from egg to adult was 213 days. The mean length in days from each stage was: 24.3 (± 1.30) for the first. 32.8 (± 1.45) (2nd), 36.1 (± 1.50) (3rd), 44.6 (± 1.85) (4th) and 52.0 (± 1.92) (5th). The mean egg incubation períod was 23.2 (± 1.40). Overall mortality was 18.8% and egg viability was 82.5%.

Biology of Triatominae (Reduviidae, Hemiptera) from north of formosa county (Goiás - Brazil) II. Length of life cycle of Rhodnius Neglectus lent, 1954

In the present paper the life cycle of Rhodnius neglectus was studied. The mean length from egg to adult was 119 days. The mean length in day from each stage was: 17.4 (± 1.15) for first, 18.2 (± 1.28) for second, fourth and 29.8 (± 1.46) for fifth.

Biology of triatominae (Reduviidade, Hemiptera) from north of Formosa county (Goiás - Brazil). III: length of life cycle of Psammolestes tertius Lent and Jurberg 1965

In the present work the life cycle of Psammolestes tertius was studied. The mean length, in days, fromeach stage was: 26.3 (± 1.7) (1st), 28.6 (± 1.8) (2nd), 28.4 (± 1.8) (3rd), 32.2 (± 1.9) (4th) and 33.5 (± 5.8) (5th). The mean egg incubation period was 15.7 days (± 1.7). Overall mortality was 48.9% and egg viability was 65.7%.

Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual Association

A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.

The association of Schistosoma mansoni infection with hepatocellular carcinoma

The association of Schistosoma mansoni infection with hepatocellular carcinoma (HCC) was studied in Espirito Santo State, Brazil. Schistosoma infection was diagnosed by stool examinations or by histological finding at autopsy. HCC was diagnosed by biopsy, laparoscopy and biopsy or at autopsy. Among 45 cases of HCC six had Schistosoma mansoni infection (13.04%). The occurrence of Schistosoma infection among HCC HBs Ag positive or negative was similar (13.3 3% and 13.63% respectively). The chi squared comparison showed no significant differences between the frequency of schistosomiasis in patients with HCC and the frequency of Schistosoma infection among people living in the Espirito Santo State (5.9% among children of elementary school from all the counties of the State and 6.7% in people that attended medical care in Vitoria, the capital of the State). Therefore, the authors believe that the association of schistosomiasis mansoni with HCC may be casual, specially in areas where the Schistosoma mansoni infection is frequent.

Frequency of human leukocyte antigen (hla) in patients with malaria and in the general population of Humaitá county, Amazonas state, Brazil

In August 1983,85 inhabitants of the municipality of Humaitá, Amazonas State, Brazil were studied to determine the prevalence of antigens to HLA-A, -B, -C and DR. Thirty-eight were sick with malaria due to Plasmodium falciparum. All subjects were examined for splenomegaly, blood parasitaemia and antibodies to malaria. They constituted three groups: 1) 25 subjects native to the Amazon region who had never had malaria; 2) 38 Amazonian subjects who had malaria in the past or currently had an infection; 3) 22 patients with malaria who had acquired the infection in the Amazon Region but came from other regions of Brazil. Blood was taken from each person, the lymphocytes were separated and typed by the test of microlymphocytotoxicity. There was a high frequency of antigens that could not be identified in the groups studied which suggests the existence of a homozygote or phenotype not identified in the population. There was a high frequency of the phenotype Ag(W24) (44.7%) in group 2 when compared with group 1 (32%) or group 3 (9%). Also the individuals in group 2 showed an elevated frequency of antigen DR(4)80%) when compared with group 1 (36.6%) or group 3 (16.6%). These observations suggest the possibility of a genetic susceptibility to malaria among Amazonian residents and indicate a necessity for more extensive studies of the frequency of HLA antigens among inhabitants of this endemic malarial zone.

Malaria in humait a county, state of Amazonas, Brazil. XIX - evaluation of clindamycin for the treatment of patients with Plasmodium falciparum infection

A total of 207 patients with malaria caused by Plasmodium falciparum were submitted to 5 different treatment schedules with clindamycin from 1981 to 1984: A - 89 patients were treated intravenously and orally, or intramuscularly and orally with 20 mg/kg/day divided into two daily applications for 5 to 7 days; B-40 patients were treated orally with 20 mg/kg/day divided into two daily doses for 5 to 7 days; C-27 patients were treated with 20 mg/kg/day intravenously or orally divided into two daily applications for 3 days; D-16 patients were treated orally and/or intravenously with a single daily dose of 20 to 40 mg/kg/day for 5 to 7 days; E-35 patients were treated orally with 5 mg/kg/day divided into two doses for 5 days. Patients were examined daily during treatment and reexamined on the 7th, 24th, 21st, 28th and 35th day both clinically and parasitologically (blood test). Eighty three (40.1%) had moderate or severe malaria, and 97 (46.8%) had shown resistance to chloroquine or to the combination ofsulfadoxin and pyrimethamine. The proportion of cured patients was higher than 95% among patients submitted to schedules A and B. Side effects were only occasional and of low intensity. Three deaths occurred (1.4%), two of them involving patients whose signs and symptoms were already very severe when treatment was started. Thus, clindamycin proved to be very useful in the treatment of patients with malaria caused by Plasmodium falciparum and we recommend schedule A for moderate and severe cases and Bfor initial cases.