bluuebunny/crossref_metadata_2025 huggingface dataset:
Isolation and characterization of exopolysaccharide with immunomodulatory activity from fermentation broth of Morchella conica
Authors: Su Chao-an , Xu Xiao-yan , Liu De-yun , Wu Ming , Zeng Fan-qing , Zeng Meng-yao , Wei Wei , Jiang Nan , Luo Xia
Published: January 2013

Background and the purpose of this study

Mushroom polysaccharides have traditionally been used for the prevention and treatment of a multitude of disorders like infectious illnesses, cancers and various autoimmune diseases. In vitro and in vivo studies suggest that certain polysaccharides affect immune system function. Morchella conica (M. conica) is a species of rare edible mushroom whose multiple medicinal functions have been proven. Thus, the objective of this study is to isolate and characterize of exopolysaccharide from submerged mycelial culture of M. conica, and to evaluate its immunomodulatory activity.

Methods

A water-soluble Morchella conica Polysaccharides (MCP) were extracted and isolated from the fermentation broth of M. conica through a combination of DEAE-cellulose and Sephacryl S-300 HR chromatograph. NMR and IR spectroscopy has played a developing role in identification of polysaccharide with different structure and composition from fungal and plant sources, as well as complex glycosaminoglycans of animal origin. Thus, NMR and IR spectroscopy were used to analyze the chemical structure and composition of the isolated polysaccharide. Moreover, the polysaccharide was tested for its immunomodulatory activity at different concentrations using in vitro model.

Results

The results showed that MCP may significantly modulate nitric oxide production in macrophages, and promote splenocytes proliferation. Analysis from HPLC, infrared spectra and nuclear magnetic resonance spectroscopy showed that MCP was a homogeneous mannan with an average molecular weight of approximately 81.2 kDa. The glycosidic bond links is →6)-α-D-Man p-(1→.

Conclusion

The results suggested that the extracted MCP may modulate nitric oxide production in macrophages and promote splenocytes proliferation, and it may act as a potent immunomodulatory agent.
Characterization of two antimicrobial peptides produced by a halotolerant Bacillus subtilis strain SK.DU.4 isolated from a rhizosphere soil sample
Authors: Baindara Piyush , Mandal Santi M , Chawla Niharika , Singh Pradip Kumar , Pinnaka Anil Kumar , Korpole Suresh
Published: January 2013

A bacterial strain producing two antimicrobial peptides was isolated from a rhizosphere soil sample and identified as Bacillus subtilis based on both phenotypic and 16S rRNA gene sequence phylogenetic analysis. It grew optimally up to 14% NaCl and produced antimicrobial peptide within 24 h of growth. The peptides were purified using a combination of chemical extraction and chromatographic techniques. The MALDI-TOF analysis of HPLC purified fractions revealed that the strain SK.DU.4 secreted a bacteriocin-like peptide with molecular mass of 5323.9 Da and a surface-active lipopeptide (m/z 1056 Da). The peptide mass fingerprinting of low-molecular-weight bacteriocin exhibited significant similarity with stretches of secreted lipoprotein of Methylomicrobium album BG8 and displayed 70% sequence coverage. MALDI MS/MS analysis elucidated the lipopeptide as a cyclic lipopeptide with a β-hydroxy fatty acid linked to Ser of a peptide with seven α-amino acids (Asp-Tyr-Asn-Gln-Pro-Asn-Ser) and assigned it to iturin-like group of antimicrobial biosurfactants. However, it differed in amino acid composition with other members of the iturin family. Both peptides were active against Gram-positive bacteria, suggesting that they had an additive effect.
OPN gene polymorphisms influence the risk of knee OA and OPN levels in synovial fluid in a Chinese population
Authors: Jiang Yongqing , Yao Meng , Liu Qingpeng , Zhou Changwei
Published: January 2013

Introduction

A body of studies suggests the role of osteopontin (OPN) in onset and development of osteoarthritis (OA), however, the association between OPN polymorphisms and OA susceptibility as well as its clinical features has not been reported.

Methods

A total of 750 patients with primary knee OA and 794 healthy volunteer were enrolled as controls. Both OA and control groups were interviewed to obtain demographic and clinical data. Three polymorphisms of OPN gene, namely, -156GG/G, -443C/T and -66T/G were determined. The levels of the full length and the thrombin-cleaved OPN in synovial fluid (SF) from OA subjects were measured.

Results

We found the polymorphisms of the -443C/T and the -66/T/G were significantly associated with the OA risk and the radiographic severity. The -443TT and -66GG showed protective effect against developing OA and were associated with lower Kellgren-Lawrence grade. Besides, the polymorphisms of -443C/T and -66T/G significantly affected the thrombin-cleaved OPN levels in SF from OA subjects. Subjects with -443TT and -66GG genotypes had lower thrombin-cleaved OPN levels in SF. The thrombin-cleaved OPN levels in SF were positively correlated to the radiographic severity of OA.

Conclusions

Our findings suggest that certain OPN gene polymorphisms may be used as molecular markers for the susceptibility and severity of OA.
Osteoprotegerin-Deficient Male Mice as a Model for Severe Alveolar Bone Loss: Comparison With RANKL-Overexpressing Transgenic Male Mice
Authors: Koide Masanori , Kobayashi Yasuhiro , Ninomiya Tadashi , Nakamura Midori , Yasuda Hisataka , Arai Yoshinori , Okahashi Nobuo , Yoshinari Nobuo , Takahashi Naoyuki , Udagawa Nobuyuki
Published: January 2013

Periodontitis, an inflammatory disease of periodontal tissues, is characterized by excessive alveolar bone resorption. An increase in the receptor activator of nuclear factor-κB ligand (RANKL) to osteoprotegerin (OPG) ratio is thought to reflect the severity of periodontitis. Here, we examined alveolar bone loss in OPG-deficient (OPG−/−) mice and RANKL-overexpressing transgenic (RANKL-Tg) mice. Alveolar bone loss in OPG−/− mice at 12 weeks was significantly higher than that in RANKL-Tg mice. OPG−/− but not RANKL-Tg mice exhibited severe bone resorption especially in cortical areas of the alveolar bone. An increased number of osteoclasts was observed in the cortical areas in OPG−/− but not in RANKL-Tg mice. Immunohistochemical analyses showed many OPG-positive signals in osteocytes but not osteoblasts. OPG-positive osteocytes in the cortical area of alveolar bones and long bones were abundant in both wild-type and RANKL-Tg mice. This suggests the resorption in cortical bone areas to be prevented by OPG produced locally. To test the usefulness of OPG−/− mice as an animal model for screening drugs to prevent alveolar bone loss, we administered an antimouse RANKL antibody or risedronate, a bisphosphonate, to OPG−/− mice. They suppressed alveolar bone resorption effectively. OPG−/− mice are useful for screening therapeutic agents against alveolar bone loss.
Overexpression of PRMT5 Promotes Tumor Cell Growth and Is Associated with Poor Disease Prognosis in Epithelial Ovarian Cancer
Authors: Bao Xiangxiang , Zhao Shan , Liu Ting , Liu Yang , Liu Yueyang , Yang Xingsheng
Published: January 2013

PRMT5 has been reported to be involved in the processes of tumor progression at various steps. The aim of this study was to examine the role of PRMT5 in epithelial ovarian cancer (EOC). In this study, PRMT5 and Ki-67 expression were examined by immunohistochemistry (IHC) in cohorts of normal, benign, and cancerous ovarian tissues. PRMT5 overexpression was observed in 83.1% (98/118) of EOCs, and it was significantly associated with serous type, poor differentiation, advanced tumor stage, lymph node invasion, presence of residual tumor, and high expression of Ki-67 ( p<0.05, respectively). Moreover, overexpression of PRMT5 was an independent prognostic marker for decreased overall survival and progression-free survival in univariate survival analysis and multivariate Cox regression analysis. In ovarian cancer cell lines A2780 and SKOV3, PRMT5 knockdown by siRNA inhibited cell growth/proliferation and induced apoptosis via upregulation of E2F-1. These results suggest that overexpression of PRMT5 correlates with an aggressive malignant phenotype and may constitute a novel prognostic factor for EOC. Thus, PRMT5 may represent a clinically effective new target for therapy of ovarian cancer.
Hypothalamic obesity: prevalence, associations and longitudinal trends in weight in a specialist adult neuroendocrine clinic
Authors: Steele Caroline A , Cuthbertson Daniel J , MacFarlane Ian A , Javadpour Mohsen , Das Kumar S V , Gilkes Catherine , Wilding John P , Daousi Christina
Published: January 2013

Objective

Obesity is highly prevalent among adults with acquired, structural hypothalamic damage. We aimed to determine hormonal and neuroanatomical variables associated with weight gain and obesity in patients following hypothalamic damage and to evaluate the impact of early instigation of weight loss measures to prevent or limit the severity of obesity in these patients.

Design

Retrospective study of 110 adults with hypothalamic tumours attending a specialist neuroendocrine clinic. BMI was calculated at diagnosis and at last follow-up clinic visit. Endocrine data, procedures, treatments and weight loss measures were recorded and all available brain imaging reviewed.

Results

At last follow-up, 82.7% of patients were overweight or heavier (BMI≥25 kg/m2), 57.2% were obese (BMI≥30 kg/m2) and 14.5% were morbidly obese (BMI≥40 kg/m2). Multivariate analysis revealed that use of desmopressin (odds ratio (OR)=3.5;P=0.026), GH (OR=2.7;P=0.031) and thyroxine (OR=3.0;P=0.03) was associated with development of new or worsened obesity. Neuroimaging features were not associated with weight gain. Despite proactive treatments offered in clinic in recent years (counselling, dietetic and physical activity advice, and anti-obesity medications), patients have continued to gain weight.

Conclusions

Despite increased awareness, hypothalamic obesity is difficult to prevent and to treat. Improved understanding of the underlying pathophysiologies and multicentre collaboration to examine efficacy of novel obesity interventions are warranted.
Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma
Authors: Boguszewski César Luiz , Fighera Tayane Muniz , Bornschein Andressa , Marques Fabricio Machado , Dénes Judit , Rattenbery Eleanor , Maher Eamonn R. , Stals Karen , Ellard Sian , Korbonits Marta
Published: January 2013

We report on an adult woman with rare coexistence of acromegaly, pheochromocytoma (PHEO), gastrointestinal stromal tumor (GIST), intestinal polyposis, and thyroid follicular adenoma. At the age of 56, she was diagnosed with acromegaly caused by a pituitary macroadenoma, treated by transsphenoidal surgery, radiotherapy, and octreotide. During routine colonoscopy, multiple polyps were identified as tubular adenomas with high-grade dysplasia on histology. Years later, an abdominal mass of 8.0 x 6.2 cm was detected by routine ultrasound. Surgical exploration revealed an adrenal mass and another tumor adhered to the lesser gastric curvature, which were removed. Pathology confirmed the diagnosis of PHEO and GIST. PHEO immunohistochemistry was negative for GHRH. During follow-up, nodular goiter was found with normal levels of calcitonin and inconclusive cytology. Near-total thyroidectomy was performed, revealing a follicular adenoma. Her family history was negative for all of these tumor types. Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative. Though the finding of PHEO and acromegaly with multiple other tumors could be a fortuitous coexistence, we suggest that this case may represent a new variant of MEN syndrome with a de novo germline mutation in a not yet identified gene. Arq Bras Endocrinol Metab. 2012;56(8):507-12
Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene
Authors: Scaglia Paula A. , Chiesa Ana , Bastida Gabriela , Pacin Mirta , Domené Horacio M. , Gruñeiro-Papendieck Laura
Published: January 2013

Activating mutations in the TSH Receptor (TSHR) gene have been identified as the molecular basis for congenital non-autoimmune hyperthyroidism. We describe the clinical findings and molecular characterization in a girl who presented severe non-autoimmune hyperthyroidism since birth, born to a mother with autoimmune thyroid disease. She was treated with methylmercaptoimidazol and β-blockers, but remained hyperthyroid and required total thyroidectomy. To characterize the presence of an activating mutation, the whole coding sequence and intron-exon boundaries of TSHR gene were analyzed. The patient was heterozygous for p.Ser281Asn mutation and p.Asp727Glu polymorphism. This recurrent mutation, p.Ser281Asn, characterized in vitro by increased basal production of cAMP, is the unique germline activating gene variant described so far in the extracellular domain of TSH receptor. Interestingly, the patient's mother presented hyperthyroidism but without any TSHR gene activating mutation. Although congenital non-autoimmune hyperthyroidism is a rare condition, it should be investigated when severe disease persists, even in a newborn from an autoimmune hyperthyroid mother, in order to differentiate it from the more common congenital autoimmune disease. Arq Bras Endocrinol Metab. 2012;56(8):513-8
Frasier syndrome: four new cases with unusual presentations
Authors: Guaragna Mara Sanches , Lutaif Anna Cristina Gervásio de Britto , Bittencourt Viviane Barros , Piveta Cristiane Santos Cruz , Soardi Fernanda Caroline , Castro Luiz Claudio Gonçalves , Belangero Vera Maria Santoro , Maciel-Guerra Andréa Trevas , Guerra-Junior Gil , De Mello Maricilda Palandi
Published: January 2013

Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patients are generally unresponsive to steroid and immunosuppressive therapies, and will develop end-stage renal failure (ESRF) during the second or third decade of life. We report here four cases of FS diagnosis after identification of WT1 mutations. Case 1 was part of a large cohort of patients diagnosed with steroid-resistant nephrotic syndrome, in whom the screening for mutations within WT1 8-9 hotspot fragment identified the IVS9+5G>A mutation. Beside FS, this patient showed unusual characteristics, such as urinary malformation (horseshoe kidney), and bilateral dysgerminoma. Cases 2 and 3, also bearing the IVS9+5G>A mutation, and case 4, with IVS9+1G>A mutation, were studied due to FSGS and/or delayed puberty; additionally, patients 2 and 4 developed bilateral gonadal tumors. Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. Arq Bras Endocrinol Metab. 2012;56(8):525-32
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
Authors: Castro Carla Cristina Telles de Sousa , Guaragna-Filho Guilherme , Calais Flavia Leme , Coeli Fernanda Borchers , Leal Ianik Rafaela Lima , Cavalcante-Junior Erisvaldo Ferreira , Monlleó Isabella Lopes , Pereira Silma Regina Ferreira , Silva Roberto Benedito de Paiva e , Gabiatti José Roberto Erbolato , Marques-de-Faria Antonia Paula , Maciel-Guerra Andrea Trevas , De Mello Maricilda Palandi , Guerra-Junior Gil
Published: January 2013

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46,XY karyotype and 17-β-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio < 0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. Arq Bras Endocrinol Metab. 2012;56(8):533-9
The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies
Authors: Maciel-Guerra Andréa Trevas , De Paulo Juliana , Santos Ana Paula , Guaragna-Filho Guilherme , Andrade Juliana Gabriel Ribeiro , Siviero-Miachon Adriana Aparecida , Spinola-Castro Ângela Maria , Guerra-Júnior Gil
Published: January 2013

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51
MicroRNAs miR-146-5p and let-7f as prognostic tools for aggressive papillary thyroid carcinoma: a case report
Authors: Geraldo Murilo Vieira , Fuziwara Cesar Seigi , Friguglieti Celso Ubirajara Moretto , Costa Ricardo Borges , Kulcsar Marco Aurélio Vamondes , Yamashita Alex Shimura , Kimura Edna Teruko
Published: January 2013

Papillary thyroid cancer (PTC) is the most incident histotype of thyroid cancer. A certain fraction of PTC cases (5%) are irresponsive to conventional treatment, and refractory to radioiodine therapy. The current prognostic factors for aggressiveness are mainly based on tumor size, the presence of lymph node metastasis, extrathyroidal invasion and, more recently, the presence of the BRAFT1799A mutation. MicroRNAs (miRNAs) have been described as promising molecular markers for cancer as their deregulation is observed in a wide range of tumors. Recent studies indicate that the over-expression of miR-146b-5p is associated with aggressiveness and BRAFT1799A mutation. Furthermore, down-regulation of let-7f is observed in several types of tumors, including PTC. In this study, we evaluated the miR146b-5p and let-7f status in a young male patient with aggressive, BRAFT1799A-positive papillary thyroid carcinoma, with extensive lymph node metastases and short-time recurrence. The analysis of miR-146b-5p and let-7f expression revealed a distinct pattern from a cohort of PTC patients, suggesting caution in evaluating miRNA expression data as molecular markers of PTC diagnosis and prognosis. Arq Bras Endocrinol Metab. 2012;56(8):552-7
Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism
Authors: Mory Patricia B. , Santos Marcia C. dos , Kater Claudio E. , Moisés Regina S.
Published: January 2013

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism. Arq Bras Endocrinol Metab. 2012;56(8):574-7
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
Authors: Guaragna-Filho Guilherme , Castro Carla Cristina Telles de Sousa , De Carvalho Rodrigo Ribeiro , Coeli Fernanda Borchers , Ferraz Lúcio Fábio Caldas , Petroli Reginaldo José , De Mello Maricilda Palandi , Sewaybricker Letícia Esposito , Lemos-Marini Sofia Helena Valente , D'Souza-Li Lilia Freire Rodrigues , Miranda Márcio Lopes , Maciel-Guerra Andréa Trevas , Guerra-Junior Gil
Published: January 2013

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. Arq Bras Endocrinol Metab. 2012;56(8):578-85
The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature
Authors: Blom Carla Brauner , Ceolin Lucieli , Romitti Mirian , Siqueira Débora , Maia Ana Luiza
Published: January 2013

Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heritable disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered fundamental in MTC management but the extent of the molecular analysis required to exclude inherited disease is still controversial. While the screening of all known mutation loci is recommended by some authors, the high costs associated with a full analysis should be also taken into consideration. Here, we illustrate and discuss this controversial issue by reporting a patient who present all characteristic features of sMTC, and in whom a standard genetic analysis by restriction enzyme restriction excluded hereditary disease. Nevertheless, an extensive molecular analysis that included all codons was prompted by the diagnosis of thyroid neoplasm in a patient's sister, and identified the rare intracellular RET p.Ser891Ala mutation. Arq Bras Endocrinol Metab. 2012;56(8):586-91
Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample
Authors: Cordeiro Quirino , Silva Renata Teixeira da , Vallada Homero
Published: January 2013

Schizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.
Cross-cultural adaptation and validation of the 12-item Multiple Sclerosis Walking Scale (MSWS-12) for the Brazilian population
Authors: Marangoni Bruna E. M. , Pavan Karina , Tilbery Charles Peter
Published: January 2013

Gait impairment is reported by 85% of patients with multiple sclerosis (MS) as main complaint. In 2003, Hobart et al. developed a scale for walking known as The 12-item Multiple Sclerosis Walking Scale (MSWS-12), which combines the perspectives of patients with psychometric methods. OBJECTIVE: This study aimed to cross-culturally adapt and validate the MSWS-12 for the Brazilian population with MS. METHODS: This study included 116 individuals diagnosed with MS, in accordance with McDonald's criteria. The steps of the adaptation process included translation, back-translation, review by an expert committee and pretesting. A test and retest of MSWS-12/BR was made for validation, with comparison with another scale (MSIS-29/BR) and another test (T25FW). RESULTS: The Brazilian version of MSWS-12/BR was shown to be similar to the original. The results indicate that MSWS-12/BR is a reliable and reproducible scale. CONCLUSIONS: MSWS-12/BR has been adapted and validated, and it is a reliable tool for the Brazilian population.
What is the essential neurological examination?
Authors: Lima Marco A. , Maranhão-Filho Péricles
Published: January 2013

In order to determine which aspects would be essential to the neurological examination (NE) in a given specific situation (a patient referred with a potential neurological complaint, but the history suggests that a neurological problem is unlikely), we presented the same questionnaire used by Moore and Chalk in Canada to 19 neurologists in Rio de Janeiro, Brazil. We considered significant aspects of NE, whose average responses were greater than or equal to 3.5: visual fields, fundoscopy, pursuit eye movements, facial muscle power testing, gait, pronator drift or rapid arm movement in upper limbs, finger-nose, tone in arms and legs, five tendon reflexes, and plantar responses. We concluded that, despite geographical and economical differences between Brazil and Canada, neurologists from both countries agree about the essential NE in the proposed scenario.
Vestibulo-ocular reflex and the head impulse test
Authors: Maranhão Eliana T. , Maranhão-Filho Péricles
Published: January 2013

The authors highlights the importance of the vestibulo-ocular reflex examination through the head impulse test as a diagnostic method for vestibular dysfunction as well as, and primarily, a bedside semiotic resource capable of differentiating between acute peripheral vestibulopathy and a cerebellar or brainstem infarction in emergency rooms.
Surgical and postmortem pathology studies: contribution for the investigation of temporal lobe epilepsy
Authors: Caboclo Luís Otávio Sales Ferreira , Neves Rafael Scarpa , Jardim Anaclara Prada , Hamad Ana Paula Andrade , Centeno Ricardo Silva , Lancellotti Carmen Lucia Penteado , Scorza Carla Alessandra , Cavalheiro Esper Abrão , Yacubian Elza Márcia Targas , Sakamoto Américo Ceiki
Published: January 2013

Pathology studies in epilepsy patients bring useful information for comprehending the physiopathology of various forms of epilepsy, as well as aspects related to response to treatment and long-term prognosis. These studies are usually restricted to surgical specimens obtained from patients with refractory focal epilepsies. Therefore, most of them pertain to temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS) and malformations of cortical development (MCD), thus providing information of a selected group of patients and restricted regions of the brain. Postmortem whole brain studies are rarely performed in epilepsy patients, however they may provide extensive information on brain pathology, allowing the analysis of areas beyond the putative epileptogenic zone. In this article, we reviewed pathology studies performed in epilepsy patients with emphasis on neuropathological findings in TLE with MTS and MCD. Furthermore, we reviewed data from postmortem studies and discussed the importance of performing these studies in epilepsy populations.
Epileptologists probe vagus nerve stimulation in children with refractory epilepsy: a promise against sudden unexpected death in epilepsy
Authors: Terra Vera C. , Nisyiama Meire A. , Abrão João , Sakamoto Américo C. , Machado Helio R. , Arida Ricardo M. , Cavalheiro Esper A. , Scorza Fulvio Alexandre
Published: January 2013

It is clear that sudden unexpected death in epilepsy (SUDEP) is mainly a problem for people with refractory epilepsy, but our understanding of the best way to its prevention is still incomplete. Although the pharmacological treatments available for epilepsies have expanded, some antiepileptic drugs are still limited in clinical efficacy. In the present paper, we described an experience with vagus nerve stimulation (VNS) treatment by opening space and providing the opportunity to implement effective preventative maps to reduce the incidence of SUDEP in children and adolescents with refractory epilepsy.
Fifty years of the Brazilian Academy of Neurology
Authors: Gomes Marleide da Mota , Cavalcanti José Luiz de Sá
Published: January 2013

The 50th anniversary of the Brazilian Academy Neurology (BAN) is being celebrated. BAN was founded on May 5th, in 1962. The BAN initial leaders and members are treated with reverence, as well as the honorable place where its foundation took place: the Institute of Neurology, first in Brazil, at the backyards of the ancient National Hospice for the Insane, which is an important and fruitful birthplace of the Brazilian Neurology.
Environmental settings and families' socioeconomic status influence mobility and the use of mobility devices by children with cerebral palsy
Authors: Cury Valéria C. R. , Figueiredo Priscilla R. P. , Mancini Marisa C.
Published: January 2013

Functional mobility of children with cerebral palsy (CP) is influenced by personal and environmental factors, serving as barriers and/or facilitators and impacting on children's strategies and functional outcome. OBJECTIVES: To describe typical mobility methods used by children with CP at home, school and community and to compare them across family's socioeconomic levels (SES). METHODS: The Functional Mobility Scale was used to assess mobility of 113 children with CP of high and low SES at home, school, and community. RESULTS: Differences in mobility methods of participants classified as Gross Motor Function Classification System levels II, III and IV were found between home and community. For levels III and IV, differences were also found between home and school. At home, participants from higher SES used wheelchairs more frequently while those from lower SES used floor mobility (crawling). CONCLUSIONS: Environmental settings and families' socioeconomic status influence mobility and use of mobility devices by children with CP.
Availability of olfactory bulb: experience from a British Brain Bank
Authors: Rajan Suraj , Parsons Linda , Lees Andrew J , Silveira-Moriyama Laura
Published: January 2013

The olfactory bulb and tract (OB/OT) are among the earliest structures in the brain to undergo pathological changes in many neurodegenerative conditions. The availability of OB/OT samples from brain specimens in brain banks therefore assumes importance. We collected data from 5 years (2006-2010) regarding the presence or absence of OB/OT material in cases received by the Queen Square Brain Bank (QSBB) for Neurological Disorders, UCL Institute of Neurology, UK, to estimate availability of OB/OT material at the brain bank and also to look for possible associations. Of the 438 cases received, 320 had complete data regarding OB/OT and 29.4% of these had OB/OT in at least one half of the specimen. Unavailability of OB/OT was associated with larger post-mortem delays (p<0.001), suggesting that the delay might render the tissue more friable and hence lead to its loss. Brains from female donors also tended to have a higher availability in our samples.
Ensaiando interpretações e estratégias para o campo da administração pública no Brasil
Authors: Fadul Élvia Mirian Cavalcanti , Mac-Allister da Silva Mônica de Aguiar , Silva Lindomar Pinto da
Published: January 2013

Este ensaio objetiva refletir sobre a administração pública como campo de conhecimento; especificamente, interpretar o campo no seu estágio atual e indicar estratégias para seu desenvolvimento no Brasil. Esta reflexão é baseada no conceito de campo de conhecimento de Bourdieu (2004); evidencia as características mais marcantes do campo da administração pública, destacando a necessidade de libertar-se da análise dos movimentos ocorridos no panorama público nacional, para compreender teoricamente o que justifica esses movimentos, explicá-los à luz das teorias existentes ou desenvolver teorias que os expliquem; indica a necessidade de repensar a pesquisa e sua condição de submissão ou escravidão a esses movimentos; e sugere a necessidade de se estabelecerem mais claramente os limites disciplinares, procurando a determinação do objeto e dos temas, e a coerência teórica e metodológica de sua abordagem.
A estrutura de provisão dos serviços de saneamento básico no Brasil: uma análise comparativa do desempenho dos provedores públicos e privados
Authors: Scriptore Juliana Souza , Toneto Júnior Rudinei
Published: January 2013

O presente artigo realiza uma análise que compara o desempenho dos provedores públicos e privados de serviços de saneamento básico no Brasil. As diferenças de desempenho entre os provedores que, de acordo com a literatura, estão submetidos a diferentes incentivos foram avaliadas com base nos dados do Sistema Nacional de Informações sobre Saneamento (Snis) de 2010 a partir de uma estimativa em cross-section para uma amostra de 4.930 municípios brasileiros. Os resultados não fornecem evidências fortes de que um grupo seja superior a outro na maior parte dos indicadores. Dado que os grupos revelaram superioridade em indicadores específicos, a contribuição deste estudo é propor o desenho de uma política que considere diversas modalidades de gestão e provisão como possível solução para o desafio de universalizar os serviços no país.
Programa Pró-Equidade de Gênero: uma discussão sobre relações entre homens e mulheres na Caixa Econômica Federal
Authors: Pinto Elisabeth Lisbôa , Midlej Suylan
Published: January 2013

O objetivo deste artigo é discutir em que medida as ações de implementação do Programa Pró-Equidade de Gênero, desenvolvidas na Caixa Econômica Federal (Caixa) após a concessão do "Selo Pró-Equidade de Gênero", têm melhorado as relações entre homens e mulheres nessa instituição financeira. Foi realizada pesquisa qualitativa, a partir de pesquisa documental e entrevistas individuais semiestruturadas, com cinco entrevistados: quatro gerentes de diferentes agências do banco no Distrito Federal, dois homens e duas mulheres, e a Coordenadora do Programa Pró-Equidade de Gênero na Caixa. Os resultados apontam que ocorreram alguns avanços com a implementação do Programa em relação à normatização de comissão paritária de homens e mulheres nas bancas examinadoras de processos seletivos. No entanto, as mulheres ainda se localizam na base da pirâmide organizacional da Caixa.
Bens públicos e recursos de acesso comum: instituições que influenciam sua conservação nos bairros Cota do Parque Estadual da Serra do Mar de São Paulo
Authors: Sabbagh Roberta Buendia
Published: January 2013

Este artigo visa abordar o embate do uso e da conservação dos recursos naturais e de acesso comum, principalmente remanescentes florestais em áreas protegidas. O uso e o manejo desses recursos são temas de diversas teorias, sendo apresentados neste artigo os teóricos Garrett Hardin e Elinor Ostrom. Numa visão antagônica, Garrett Hardin aborda a problemática da coletividade no uso dos recursos, apontando a necessidade de um controle externo para evitar a superexploração, e Elinor Ostrom vê a possibilidade da autonomia da comunidade para o uso sustentável. São contrapontos entre a indução do comportamento por meios coercitivos legais e o controle pela própria comunidade para conservação ambiental. A partir da análise de princípios elencados por Elinor Ostrom é feita a avaliação do desempenho institucional em dois estudos de casos no Parque Estadual da Serra do Mar, nos bairros Cota.
Immunovirological parameters and cytokines in HIV infection
Authors: Tasca Karen Ingrid , Calvi Sueli Aparecida , Souza Lenice do Rosário de
Published: January 2013

Although modern combined antiretroviral therapies (cART) result in lower morbidity and mortality and a visible improvement of clinical and laboratory parameters in HIV-infected, it is known that their long-term use contributes to appearance of the many events unrelated to AIDS such as cardiovascular diseases, cancer and osteoporosis, comorbidities which have been proposed as some of the most important that deprive the majority of infected to present an even better prognosis. This is because even with a decrease in inflammation and immune activation after drug intervention to the patient, these parameters remain higher than those shown by healthy individuals and the imbalance of cytokine profiles also persists. Therefore, evaluations of other biomarkers in clinical practice are needed to complement the exams already carried out routinely and allow more effective monitoring of HIV patients. This review aims to investigate the role of cytokines as potential markers showing studies on their behavior in various stages of HIV infection, with or without cART.
Prevalence of influenza and adherence to the anti-flu vaccination among elderly
Authors: Nakamura Eduardo Yukio , Mello Luane Marques de , Silva Anderson Soares da , Nunes Altacílio Aparecido
Published: January 2013

INTRODUCTION: The flu, a condition that can affect the elderly by increasing the risk of serious complications can be prevented through vaccination. Estimate the prevalence of signs and symptoms suggestive of influenza in a group of elderly either vaccinated or unvaccinated against influenza was the objective this study. METHODS: This is a cross-sectional study performed in a Brazilian City. A structured questionnaire was employed to identify the presence of signs and symptoms of influenza in individuals aged 60 years or over. For analysis of associations between variables the prevalence ratio (PR) and its 95% confidence interval (95% CI) were used. RESULTS: One hundred ninety-six participants were interviewed, of whom 57.7% were female. The average age was 69.7 years. About 25% of the vaccinated and 20% of the unvaccinated in 2009, and 25% of the vaccinated and 22.5% of the unvaccinated in 2010 reported having the flu. Among the vaccinated and unvaccinated in 2009 and 2010, there was no verified association between vaccination and influenza (PR=1.24; [95% CI: 0.63-2.43] and PR=1.11; [95% CI: 0.59-2.09], respectively). CONCLUSIONS: This study suggests that, among the elderly selected, the vaccination coverage for influenza is below the ideal, even with projection of the best indices for 2011 (~ 84%). The data on vaccination and disease protection needs further research; however, the results point to the need for measures to better clarify to this population about the disease, its complications and the benefits of vaccination, in addition to combatting the stigma related to low adherence.
Malignancies in HIV/AIDS patients attending an outpatient clinic in Vitória, State of Espírito Santo, Brazil
Authors: Pinto Neto Lauro Ferreira da Silva , Milanez Maria da Conceição , Golub Jonathan Eric , Miranda Angelica Espinosa Barbosa
Published: January 2013

INTRODUCTION: The present study investigated cancer prevalence and associated factors among HIV-infected individuals attending an AIDS outpatient clinic in Vitória, State of Espírito Santo, Brazil. METHODS: A sectional study was conducted among HIV infected adults attending an AIDS outpatient clinic in Vitória, State of Espírito Santo, Brazil. Demographic, epidemiological and clinical data were abstracted from medical records, including cancer diagnoses; nadir and current CD4 cell count, HIV viral load, time on antiretroviral treatment (ART), type of ART and smoking status. RESULTS: A total of 730 (91.3%) patients were included in the study. Median age was 44.0 [interquartile range (IQR): 35-50.3] years; median time since HIV diagnosis was 5.5 years (IQR: 2-10); 60% were male; and 59% were white. Thirty (4.1%) cases of cancer were identified of which 16 (53%) were AIDS defining cancers and 14 (47%) were non-AIDS defining malignancies. Patients diagnosed with cancer presented higher chance of being tobacco users [OR 2.2 (95% CI: 1.04-6.24)]; having nadir CD4 ≤200 cells/mm³ [OR 3.0 (95% CI: 1.19-7.81)] and higher lethality [OR 13,3 (95% CI: 4,57-38,72)]. CONCLUSIONS: These results corroborate the importance of screening for and prevention of non-AIDS defining cancers focus in HIV-infected population, as these cancers presented with similar frequency as AIDS defining cancers.
Hepatitis D virus infection in the Western Brazilian Amazon - far from a vanishing disease
Authors: Braga Wornei Silva Miranda , Castilho Márcia da Costa , Borges Fabiane Giovanella , Leão Jorge Roberto Di Tommaso , Martinho Ana Cristina de Souza , Rodrigues Ivo Seixas , Azevedo Eliete Pereira de , Barros Júnior Gildo Maia de , Paraná Raymundo
Published: January 2013

INTRODUCTION: A decline in hepatitis D virus (HDV) occurrence was described in Europe and Asia. We estimated HDV prevalence in the Brazilian Amazon following hepatitis B vaccination. METHODS: This is a cross-sectional survey of HDV measured by total antibodies to HDV (anti-HD T). RESULTS: HDV prevalence was 41.9% whiting HBsAg carries and was associated with age (PR = 1.96; 95% CI 1.12-3.42; p = 0.01), hepatitis B virus (HBV) infection (PR = 4.38; 95% CI 3.12-6.13; p < 0.001), and clinical hepatitis (PR =1.44; 95% CI 1.03-2.00; p = 0.03). Risk factors were related to HDV biology, clinical or demographic aspects such as underlying HBV infection, clinical hepatitis and age. CONCLUSIONS: Our study demonstrated that HDV infection continues to be an important health issue in the Brazilian Amazon and that the implementation of the HBV vaccination in rural Lábrea had little or no impact on the spread of HDV. This shows that HDV has not yet disappeared from HBV hyperendemic areas and reminding that it is far from being a vanishing disease in the Amazon basin.
Cases distribution of leptospirosis in City of Manaus, State of Amazonas, Brazil, 2000-2010
Authors: Jesus Michele Silva de , Silva Luciete Almeida , Lima Kátia Maria da Silva , Fernandes Ormezinda Celeste Cristo
Published: January 2013

INTRODUCTION: Leptospirosis is an infectious disease caused by microorganisms of the genus Leptospira that affects several species of animals, including the human beings. The study described the confirmed cases of leptospirosis in Manaus, from 2000 to 2010. METHODS: A descriptive study based on secondary data analysis of Secretaria Municipal de Saúde (SEMSA), Sistema de Informação de Agravos de Notificação SINAN and Sistema de Informação sobre Mortalidade (SIM) analyzing the variables: age group, gender, clinical aspects and geographic area and lethality. RESULTS: Were reported 665 cases of leptospirosis, 339 were confirmed and 35 (10.3%) died. The largest number of cases occurred in May (16.8%), March (13.3%) and April (11.4%), a period of intense rainfall. The city areas with the greatest occurrence of the disease were South (26.6%), West (23.5%) and East (19.7%), areas of the greatest precariousness socio-environment. The largest number of cases, including deaths, occurred in the age group from 14 to 44.9 years (74%), being that 291 (85.8%) were male and 48 (14.1%) females. The most frequent symptoms were fever, myalgia, headache and jaundice. In relation to the social conditions were identified low education, poor housing, absence of sanitation and low income. CONCLUSIONS: In Manaus, despite the implementation of the Social and Environmental Program of Igarapés of Manaus (PROSAMIM), there are still areas that need a proper urbanization and improvements in socio-environmental conditions, reducing the level of exposure of the human beings that living in these locations.
Prevalence of resistance phenotypes in Staphylococcus aureus and coagulase-negative isolates of venous ulcers of primary healthcare patients
Authors: Martins Marlene Andrade , Santos Silvana de Lima Vieira dos , Leão Lara Stefânia Netto de Oliveira , Araújo Nayara Portilho , Bachion Maria Márcia
Published: January 2013

INTRODUCTION: In venous ulcers, the presence of Staphylococcus aureus and coagulase-negative staphylococcus resistance phenotypes can aggravate and limit the choices for treatment. METHODS: Staphylococcus isolated from 69 patients (98 ulcers) between October of 2009 and October of 2010 were tested. The macrolide, lincosamide, streptogramin B (MLS B) group resistance phenotype detection was performed using the D-test. Isolates resistant to cefoxitin and/or oxacillin (disk-diffusion) were subjected to the confirmatory test to detect minimum inhibitory concentration (MIC), using oxacillin strips (E-test®). RESULTS: The prevalence of S. aureus was 83%, and 15% of coagulase-negative staphylococcus (CoNS). In addition were detected 28% of methicillin-resistant Staphylococcus aureus (MRSA) and 47% of methicillin-resistant coagulase-negative staphylococcus (MRCoNS). Among the S. aureus, 69.6% were resistant to erythromycin, 69.6% to clindamycin, 69.6% to gentamicin, and 100% to ciprofloxacin. Considering the MRSA, 74% were highly resistant to oxacillin, MIC ≥ 256µg/mL, and the MLS Bc constitutive resistance predominated in 65.2%. Among the 20 isolates sensitive to clindamycin, 12 presented an inducible MLS B phenotype. Of the MRCoNS, 71.4%were resistant to erythromycin, ciprofloxacin and gentamicin. Considering the isolates positive for β-lactamases, the MIC breakpoint was between 0.5 and 2µg/mL. CONCLUSIONS: The results point to a high occurrence of multi-drug resistant bacteria in venous ulcers in primary healthcare patients, thus evidencing the need for preventive measures to avoid outbreaks caused by multi-drug resistant pathogens, and the importance of healthcare professionals being able to identifying colonized versus infected venous ulcers as an essential criteria to implementing systemic antibacterial therapy.