A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil.

Genetic association studies determine how genes influence traits. However, non-detected population substructure may bias the analysis, resulting in spurious results. One method to detect substructure is to genotype ancestry informative markers (AIMs) besides the candidate variants, quantifying how much ancestral populations contribute to the samples' genetic background. The present study aimed to use a minimum quantity of markers, while retaining full potential to estimate ancestries. We tested the feasibility of a subset of the 12 most informative markers from a previously established study to estimate influence from three ancestral populations: European, African and Amerindian. The results showed that in a sample with a diverse ethnicity (N = 822) derived from 1000 Genomes database, the 12 AIMs had the same capacity to estimate ancestries when compared to the original set of 128 AIMs, since estimates from the two panels were closely correlated. Thus, these 12 SNPs were used to estimate ancestry in a new sample (N = 192) from an admixed population in Recife, Northeast Brazil. The ancestry estimates from Recife subjects were in accordance with previous studies, showing that Northeastern Brazilian populations show great influence from European ancestry (59.7%), followed by African (23.0%) and Amerindian (17.3%) ancestries. Ethnicity self-classification according to skin-color was confirmed to be a poor indicator of population substructure in Brazilians, since ancestry estimates overlapped between classifications. Thus, our streamlined panel of 12 markers may substitute panels with more markers, while retaining the capacity to control for population substructure and admixture, thereby reducing sample processing time.

Sialic acid differential expression in non-melanoma skin cancer biopsies.

Altered sialylation has been observed during oncogenic transformation and has been implicated in tumor progression and metastases. This pattern may aid the biological behavior of many tumors. Skin cancer is the most common cancer worldwide and their diagnosis becomes difficult, in some cases, due to variety of factors that affect the accuracy of the nowadays exams, such as huge spectrum of tumors and their variants. So, this study investigates the changes in expression and distribution of α2,3 and α2,6-linked sialic acid in non-melanomas skin cancer to identify the sialylation pattern which may be useful in the differential diagnosis of this tumor. Lectin histochemistry was used to examine the expression and distribution of sialic acid in different types of non-melanoma skin cancers. We applied Maackia amurensis lectin, which interacts with α2,3-linked sialic acid and Sambucus nigra lectin specific for α2,6-linked sialic acid. The histochemical analysis showed that α2,3 and α2,6-linked sialic acid vary their expression according with the tumor type analyzed. The distribution of α2,3-linked sialic was differentially expressed in between basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) (p < 0.0001), BCC and actinic keratosis (p = 0.0033) and BCC and keratoacanthoma (p < 0.0001). In the case of α2,6-linked sialic acid its expression was also different between BCC and SCC (p < 0.0001), BCC and actinic keratosis (p = 0.0002) and BCC and keratoacanthoma (p < 0.0362). Lectin histochemistry showed a different expression of both sialic acid linkages types between pre-malign and malign tumors and between malign tumors. Although preliminary, these findings are promising for the development of diagnostic techniques to help in the differential diagnosis of non-melanoma skin tumors using lectin histochemistry as an auxiliary tool.

Xenogeneic collagen matrix versus connective tissue graft for soft tissue augmentation at immediately placed implants: a prospective clinical trial.

The advantages of immediate implant placement for patients include a reduced number of surgical procedures and a shorter overall treatment time. Disadvantages include a higher risk of aesthetic complications. The aim of this study was to compare xenogeneic collagen matrix (XCM) versus a subepithelial connective tissue graft (SCTG) used for soft tissue augmentation in combination with immediate implant placement without provisionalization. Forty-eight patients requiring a single implant-supported rehabilitation were selected and assigned to one of two surgical procedures: immediate implant with SCTG (SCTG group) or immediate implant with XCM (XCM group). Marginal changes in the peri-implant soft tissue and the facial soft tissue thickness (FSTT) were assessed after 12 months. Secondary outcomes included peri-implant health status, aesthetics, patient satisfaction, and perceived pain. All of the implants placed were successfully osseointegrated, resulting in 1-year survival and success rates of 100%. The patients in the SCTG group had a significantly lower mid-buccal marginal level (MBML) recession (P = 0.021) and a greater increase in FSTT (P < 0.001) than the patients in the XCM group. Using xenogeneic collagen matrix during immediate implant placement significantly increased FSTT from the baseline, leading to good aesthetic and patient satisfaction results. However, the connective tissue graft yielded better MBML and FSTT results.

Accuracy of preoperative endometrial sampling diagnosis for predicting the final pathology grading in uterine endometrioid carcinoma.

PURPOSE: To explore the accuracy of preoperative endometrial sampling diagnosis for predicting the final pathology grading in endometrial cancer. METHODS: A cross-sectional study was carried out on patients who underwent surgical treatment for clinically early-stage endometrioid carcinoma of uterus at our Centers from March, 1991 to June, 2012. The agreement levels for the histological grading between the preoperative endometrial sampling diagnosis and the final surgical pathology were analyzed by the Kappa (κ) statistics with 95% confidence intervals (CI). The statistical analyses were also based on frequency data and diagnostic agreement of the procedures. RESULTS: We retrospectively selected 79 patients that fit the criteria of this analysis. The overall level of agreement between preoperative and postoperative grading was "fair" according to Kappa (κ) statistics (κ = 0.221; 95%CI = 0.389-0.053; p = 0.01). Accordingly, the overall concordance was 48/79 (60.75%)-39/58 (67.24%) for G1, 7/16 (43.75%) for G2, and 2/5 (40%) for G3 tumors. The preoperative grade 1 diagnosis was upgraded to grade 2 (n = 6) or 3 (n = 1) in 15.2% of patients after hysterectomy. Sensitivity, specificity, NPV, PPV, and accuracy of preoperative endometrial sampling diagnosis to predict grade 1 at the final surgical pathology was 67.2%, 66.7%, 42.4%, 84.8% and 67.1%, respectively. CONCLUSIONS: Preoperative endometrial sampling was found to be only a modest overall predictor of postoperative histological grading. A selective staging policy based on predictive models to avoid lymph node dissections in endometrial cancer should take into account additional parameters.

[Calcified cysticerci in basal ganglia and Parkinson's syndrome: report of a case]. / Cisticercos calcificados em gãnglios da base e síndrome parkinsoniana: registro de um caso.

It is reported the case of a 57 years-old man from Maranhão State who presented Parkinson's syndrome. Images proper to calcified cysticerci were found in the basal ganglia at the CT-scan examination. Considerations are made as to: the low frequency of cysticercosis in the northern region of the country where the patient lives; the association of symptomatic Parkinson's syndrome and cysticercosis of the central nervous system, which is rare; the demonstration of calcified cysticerci in basal ganglia in this situation, which was not registered up to the present time.

[Disseminated intravascular coagulation and subdural hematoma: a case report]. / Coagulação intravascular disseminada e hematoma subdural. relato de caso.

The authors present a case of acute subdural haematoma evacuated in the presence of a coagulopathy. Some elements necessary for the understanding of the etiopathogenesis of the disease are discussed.

[Van Der Knaap syndrome. Megalencephaly with leukodystrophy. Report of 2 cases in the same family]. / Sindrome de Van der Knaap. Megalencefalia com leucodistrofia. A respeito de dois casos na mesma família.

We report on two brothers, aged four and six years-old, evidencing the Van Der Knaap syndrome. Clinical and radiological aspects are discussed as well their peculiarities. Data are compared with related literature, as etiopathogenic mechanisms possibly involved.

[Migraine headache and syndrome of mitral valve prolapse. Report of 50 cases]. / Cefaléia enxaquecosa e síndrome do prolapso da válvula mitral. A propósito de 50 casos.

Fifty patients with prolapse of the mitral valve and clinical diagnosis of migraine are analyzed, all being given a cardio-circulatory examination for an adequate clinical correlation between both illnesses. In this study we show a comparison of the patient's age, the duration and frequency of cephalic attacks, and their relationship to prolapse of the mitral valve, commenting on the therapeutic benefits for these patients. An analysis of the data which are presented suggests a common frequency of migraine among those patients who have mitral valve degeneration.

[Non-hemorrhagic pituitary macroadenoma producing reversible internal carotid artery occlusion: case report]. / Macroadenoma pituitário não hemorrágico produzindo oclusão reversível de artéria carótida interna. A respeito de um caso.

The case of woman with diagnosis on non-hemorrhagic pituitary macroadenoma producing reversible occlusion of the internal carotid artery is presented. The obstruction of the internal carotid artery by a pituitary tumor is rare, particularly in the absence of hypophyseal apoplexy. The neuroradiological correlation becomes fundamentally important to demonstrate the complete occlusion or thrombosis of the affected vessel. The complete reestablishment of blood flow of the internal carotid artery after surgery becomes imperative for the complete symptomatological regression.

[Visualization of the brain mantle after treatment of congenital hydrocephalus: report of a case]. / Visualização do manto cerebral após tratamento de hidrocéfalo congênito: relato de um caso.

The purpose of this report is to analyze the case of a newborn with hydrocephalus who, after a ventriculo-peritoneal shunt, began to develop close to normal from a neurological viewpoint, as well as showing computerized tomografical visualization of the cerebral mantle, not observed in earlier tests.

[Infective endarteritis following aortic coarctation in a 11-year-old boy]. / Endoarterite infecciosa pós-coarctação de aorta em menino de 11 anos.

The authors describe an unusual case of infectious endo-arteritis after aortic coarctation. Clinical and echocardiographic aspects and the excellent surgical results are enhanced.

[Synthesis and structure of substituted bromo and nitrobenzyl benzylidene imidazolidinediones and thiazolidinediones]. / Synthèse et structure des bromo et nitrobenzyl benzylidène imidazolidinediones et thiazolidinediones substituées.

Synthesis and physico-chemical properties of five bromobenzyl-benzylidene-imidazolidinediones and five nitrobenzyl- or benzyl-benzylidene-thiazolidinediones are described. The microbiological activity of bromobenzyl-benzylidene-imidazolidinediones against microorganisms such as Candida albicans, Neurospora crassa and Mycobacterium smegmatis are evaluated.

Differential expression patterns of N-acetylglucosaminyl transferases and polylactosamines in uterine lesions.

Polylactosamine (polyLacNAc) is a fundamental structure in glycoconjugates and it is expressed in specific cells/tissues associated with the development and carcinogenesis. ß1,3-N-acetylglucosaminyl transferases (ß3GnTs) play an important role in polyLacNAc synthesis, however the roles of these glycosyltransferases and their products in cancer progression are still unclear. In this sense, this work aimed to evaluate differential expression pattern of the N-acetylglucosaminyl transferases and polylactosamines in invasive and premalignant lesions of the uterus cervix. The expression of ß3GnT2 and ß3GnT3 were evaluated in normal (n=10) and uterine cervix lesions (n= 120) malignant (squamous carcinoma - SC) and premalignant (cervical intraepithelial neoplasia - CIN - grades 1, 2 and 3) using immunohistochemistry. Besides, lectin histochemistry with Phytolacca americana lectin (PWM) and Wheat germ agglutinin (WGA) was also carried out to observe the presence of polyLacNAc chains and N-acetylglucosamine (GlcNAc), respectively. The ß3GnT3 was expressed in almost all samples (99%) and ß3GnT2 was higher expressed in disease samples mainly in CIN 3, when compared with normal (P=0.002), CIN 1 (P=0.009) and CIN 2 (P=0.03). The expression of polyLacNAc was higher is SC samples, when compared with normal (P=0.03), CIN 1 (P=0.02) and CIN 3 (P=0.004), and was observed only nuclear expression in nearly 50% of the SC samples, showing a statistically significant when compared with normal (P=0.01), CIN 1 (P=0.002), CIN 2 (P=0.007) and CIN 3 (P=0.04). Deferring from transferases and polyLacNAc chains, GlcNAc (WGA ligand) reveals a gradual staining pattern decrease with the increase of the lesion degree, being more expressed in CIN 1 lesions when compared with normal (P<0.0001), CIN 2 (P<0.0001), SC (P<0.0001) and CIN 3 (P=0.0003). Our data reveals ß3GnT2 and polyLacNAc may be involved in the progression of the pre-malignant lesions of human the uterine cervix. In addition, polyLacNAc expression only in the nucleus can be associated a poor prognostic in uterine lesions.

Expression patterns of α2,3-sialyltransferase I and α2,6-sialyltransferase I in human cutaneous epithelial lesions.

Skin tumors have become one of the most common cancers in the world and their carcinogenesis is frequently associated with altered glycosylation patterns. The aberrant sialylation, a type of glycosylation, can mediate pathophysiological key events during various stages of tumor progression, including invasion and metastasis. Sialyltransferases play a key role in a variety of biological processes, including cell-cell communication, cell-matrix interaction, adhesion, and protein targeting. In this study, it was evaluated the expression of ST3Gal I and ST6Gal I in cutaneous epithelial lesions that include actinic keratosis (n=15), keratoacanthoma (n=9), squamous cell carcinoma (n=22) and basal cell carcinoma (n=28) in order to evaluate if sialyltransferases expression is different in premalignant and in malignant tumors. The expression of ST3Gal I was observed in actinic keratosis (53%), keratoacanthoma (78%), squamous cell carcinoma (73%) and basal cell carcinoma (32%) with statistic differences between basal cell carcinoma and keratoacanthoma (P=0.0239) and basal cell carcinoma and squamous cell carcinoma (P=0.0096); for ST6Gal I, cytoplasmic expression was noted in actinic keratosis (40%), heterogeneous and cytoplasmic expression was noted in keratoacanthoma (67%), squamous cell carcinoma (41%) and basal cell carcinoma (7%) with statistic differences between basal cell carcinoma and squamous cell carcinoma (P=0.0061) and basal cell carcinoma and keratoacanthoma (P=0.0008). In summary, our results showed that the high expression of ST3Gal I and ST6Gal I, in skin tumors, is associated with tumors with greater potential for invasion and metastasis, as in the case of squamous cell carcinoma, and this may be related to their behavior.

Relationship between clinical symptomatology on the isolation of Salmonella Gallinarum of japanese quail (Coturnix coturnix) / Relação entre a sintomatologia clínica no isolamento de Salmonella Gallinarum de codornas japonesas (Coturnix coturnix)

Salmonella Gallinarum is capable of causing high mortality in birds of the order Galliformes. This study aimed to relate the presence of clinical signs with the recovery of Salmonella Gallinarum from organs and c loacal swabs of Japanese quails (Coturnix coturnix) experimentally infected. A total of 70 female quails were housed in a pair per cage and divided in two groups (IG: quails inoculated with 1.5x106 CFU of Salmonella Gallinarum Nalr/mL and CG: control group). After the inoculation, birds were evaluated three times a day to verify the presence of clinical signs. Birds that presented ruffled feathers, eyes closed and remained quiet in the cage were removed for euthanasia, as well as the same number of birds from the inoculated groups that presented no clinical signs and from the control group. Cloacal swabbing was performed following euthanasia for the sampling of liver, spleen, caeca, ovarian follicles and lung for microbiological procedure. Quails with clinical signs and quails found dead presented positivity of 100%. While inoculated quails with no clinical signs presented a lower positivity (38.5%). Therefore, quails with septicemia caused by SG present clinical signs of the disease and the pathogen can be isolated and quantified in the organs.(AU)

Salmonella Gallinarum pode causar alta mortalidade em aves da ordem Galliformes. Objetivou-se neste estudo relacionar a presença de sinais clínicos com a recuperação de Salmonella Gallinarum de órgãos e swabs cloacais de codornas japonesas (Coturnix coturnix) experimentalmente infectadas. Um total de 70 codornas fêmeas foram alojadas em par por gaiola e divididas em dois grupos (IG: codornas inoculadas com 1,5x106 UFC de Salmonella Gallinarum Nalr / mL e CG: grupo controle). Após a inoculação, as aves foram avaliadas três vezes ao dia para se verificar a presença de sinais clínicos. As aves que se apresentaram com penas eriçadas, olhos fechados e permaneciam imóveis na gaiola foram removidas para a eutanásia, assim como o mesmo número de aves dos grupos inoculados que não apresentaram sinais clínicos e do grupo controle. O swab cloacal foi realizado após a eutanásia para a amostragem de fígado, baço, ceco, folículos ovarianos e pulmão para procedimento microbiológico. As codornas com sinais clínicos e as encontradas mortas apresentaram positividade de 100%, enquanto as codornas inoculadas sem sinais clínicos apresentaram menor positividade (38,5%). Portanto, codornas com septicemia causada por SG apresentam sinais clínicos da doença e o patógeno pode ser isolado e quantificado em diversos órgãos.(AU)

Injuries to the head and face in Brazilian adolescents and teenagers victims of non-natural deaths.

This study aimed to evaluate the occurrence of injuries to the head and face in adolescent and teenager victims of non-natural deaths. A retrospective study was undertaken by the analysis of medical forensic reports obtained from medical forensic examinations performed at the Department of Forensic Medicine of the city of Campina Grande, PB, Brazil, between January 2003 and December 2007. From a total of 607 reports issued during this time span, the study sample consisted of 423 reports (69.6%) referring to adolescents and teenagers of both genders, aged 12 to 18 years, who were confirmed to have died from external causes. The causes of death were encoded according to the Chapter XX of the International Statistical Classification of Diseases and Related Health Problems (ICD-10). The majority of victims were 17 year old males (25.8%). Firearms (33.3%) and transport accidents (32.2%) were the most common causes of death, with boys showing a 3.7 times greater likelihood of getting killed by firearms than girls. There was statistically significant relationship between the occurrence of transport accidents and gender. The majority of victims (71.6%) presented with multiple injuries throughout the body. There was statistically significant relationship between the occurrence of transport accidents and the presence of multiple injuries. A high percentage of the victims presented with injuries to the head and face. There was statistically significant relationship between the occurrence of transport accidents and the presence of injury to the head. Fatal gunshot wounds and transport accidents were the main causes of death of male adolescents and teenagers. The victims presented with multiple injuries, especially to the head and face, and the mandible was the most frequently injured facial bone. .

Short communication: In vitro assessment of erosive potential of energy drinks.

AIM: This in vitro study was to evaluate the endogenous pH, titratable acidity, total soluble solids content (TSSC) and nonreducing sugars of energy drinks. METHODS: Nine energy drinks (Bad Boy Power Drink, Red Bull, Red Bull Sugar Free, Flying Horse, Burn, Night Power, Flash Power, Flying Horse Light and 220V) were evaluated by a randomised experiment with 3 repetitions on each sample. pH analysis performed by potentiometry and buffering capacity was assessed by dilution of each drink. Increments of 0.1 N KOH were titrated until neutrality reached. TSSC readings were performed by Brix refractometry using an Abbé refractometer. RESULTS: pH values ranged from 1.52 (Flash Power) to 3.20 (Red Bull) and all drinks showed pH 5.5. Titratable acidity values ranged from 0.56 (220V) to 1.04 (Bad Boy Power Drink). Flying Horse Light presented the lowest TSSC content (1.66%) and Flying Horse presented the highest (12.58%). Non-reducing sugars values ranged from 0.00% (Red Bull Sugar Free and Flying Horse Light) to 54.33% (Flying Horse). CONCLUSION: The energy drinks evaluated have a high erosive potential, as they present low pH and a high non-reducing sugar content.

Acridinium ester conjugated to lectin as chemiluminescent histochemistry marker.

Cell differentiation/dedifferentiation includes changes in oligosaccharide composition and distribution in the cell surface glycoconjugates. Lectins have been used as auxiliary tools in histopathological diagnosis of mammary, uterus and brain pathologies. Acridinium ester (AE) conjugated to biomolecules has been employed in chemiluminescent analytical applications. This work aimed to use a lectin, concanavalin A (Con A), conjugated to AE as a chemiluminescent histochemistry tool. Biopsies of normal and infiltrating duct carcinoma (IDC) of mammary tissues were treated by a Con A-AE derivative. Photon emission, observed during the breakage of the chemical bound between Con A and AE, was quantified, expressed in relative light units (RLU) and correlated to the labelling of the normal and transformed tissues. The results demonstrated that RLU presented a linear relationship with the labelled tissue area in the range 0.125-1.0 cm2 (r=0.98). Furthermore, RLU was much higher for the IDC (1283.920x103+/-220.621x103) than the normal tissue (2.565x103+/-0.247x103), namely, about 500 times higher. The Con A-AE conjugation efficiency, differential staining of normal and IDC tissues, and quantification of results contribute to a decrease in the subjectivity in routine histopathological diagnoses and indicate that acrydinum ester can join other lectin marker to be used in histochemistry.