Whipple's disease with neurological manifestions: case report

Whipple's disease (WD) is an uncommon multisystem condition caused by the bacillus Tropheryma whipplei. Central nervous system involvement is a classical feature of the disease observed in 20 to 40% of the patients. We report the case of a 62 yeards old man with WD that developed neurological manifestations during its course, and discuss the most usual signs and symptoms focusing on recent diagnostic criteria and novel treatment regimens.

Avaliação do teor e da estabilidade de vitaminas do complexo B e vitamina C em bebidas isotônicas e energéticas

Vitamin C stability and concentration was evaluated in isotonic beverages and B group vitamins (B1, B2, B3, B5 and B6) in power beverages. The amount of vitamins was found to be above of that declared on the labels, even after the shelf life had been exceeded. A small decrease in the amount of B group vitamins was observed during the shelf life of the products. In the case of vitamin C this decrease was slightly higher. The present research shows the need of increased quality control and inspection.

Propriedades elétricas e magnéticas de novos compostos com o ânion condutor [Ni(dmit)2]- e radicais magnéticos nitronil nitróxido

Three compounds have been synthesized with formulae [3-MeRad][Ni(dmit)2] (1), [4-MeRad][Ni(dmit)2] (2) and [4-PrRad][Ni(dmit)2] (3) where [Ni(dmit)2]- is an anionic pi-radical (dmit = 1,3-dithiol-2-thione-4,5-dithiolate) and [3-MeRad]+ is 3-N-methylpyridinium alpha-nitronyl nitroxide, [4-MeRad]+ is 4-N-methylpyridinium alpha-nitronyl nitroxide and [4-PrRad]+ is 4-N-propylpyridinium alpha-nitronyl nitroxide. The temperature-dependent magnetic susceptibility of 1 revealed that an antiferromagnetic interaction operates between the 3-MeRad+ radical cations with exchange coupling constants of J1 = - 1.72 cm-1 and antiferromagnetism assigned to the spin ladder chains of the Ni(dmit)2 radical anions. Compound 1 exhibits semiconducting behavior and 3 presents capacitor behavior in the temperature range studied (4 - 300 K).

Própolis do sudeste e nordeste do Brasil: influência da sazonalidade na atividade antibacteriana e composição fenólica

The composition and biological activities of propolis, a resinous hive product collected by honeybees from various plant sources, depends on various factors such as season and vegetation of the area. The aim of this study was to evaluate the influence of the seasonal effect on the ethanolic extracts of Brazilian propolis (EEP) type 6 and type 12, collected during 6 months in terms of antibacterial activity and phenolic composition. The antimicrobial properties were evaluated by MIC and MBC on S. mutans Ingbritt 1600 and the profile of chemical composition by UV-visible spectrophotometry, HPLC-RF and GC-MS. The results demonstrated that the season in which propolis is collected influences its chemical composition, resulting in modifications in its antibacterial activity.

Quantificação de antimônio em garrafas de politereftalato de etileno (PET) brasileiras por fluorescência de raios-X e avaliação quimiométrica para verificar a presença de pet reciclado através do teor de ferro

Antimony is a common catalyst in the synthesis of polyethylene terephthalate used for food-grade bottles manufacturing. However, antimony residues in final products are transferred to juices, soft drinks or water. The literature reports mentions of toxicity associated to antimony. In this work, a green, fast and direct method to quantify antimony, sulfur, iron and copper, in PET bottles by X-ray fluorescence spectrometry is presented. 2.4 to 11 mg Sb kg-1 were found in 20 samples analyzed. The coupling of the multielemental technique to chemometric treatment provided also the possibility to classify PET samples between bottle-grade PET/recycled PET blends by Fe content.

Análise de custo-efetividade de métodos preventivos para superfície oclusal de acordo com o risco de cárie: resultados de um ensaio clínico controlado

This study presents the results of a cost-effectiveness analysis in a controlled clinical trial on the effectiveness of a modified glass ionomer resin sealant ( Vitremer, 3M ESPE) and the application of fluoride varnish (Duraphat, Colgate) on occlusal surfaces of first permanent molars in children 6-8 years of age (N = 268), according to caries risk (high versus low). Children were examined semiannually by the same calibrated dentist for 24 months after allocation in six groups: high and low risk controls (oral health education every three months); high and low risk with varnish (oral health education every three months + varnish biannually); and high and low risk with sealant (oral health education every three months + a single application of sealant). Economic analysis showed that sealing permanent first molars of high-risk schoolchildren showed a C/E ratio of US$ 119.80 per saved occlusal surface and an incremental C/E ratio of US$ 108.36 per additional saved occlusal surface. The study concluded that sealing permanent first molars of high-risk schoolchildren was the most cost-effective intervention.

O Complexo Vegetacional da Zona Litorânea no Ceará: Pecém, São Gonçalo do Amarante

Due to its geographical location, the northeastern Coast of Brazil (Litoral Setentrional do Nordeste - LSN) is a hotter and drier climate than the eastern coast. In addition, because of its proximity to caatinga and cerrado, the LSN contains species from these vegetation biomes and from the restinga on the coast, which comprise different plant formations and creates a vegetation complex. Despite the great importance of this ecotone, there are few studies about its flora. The objective of this work was to contribute to what is known about the floristic and phytosociological composition of this region. We made a floristic survey in the area (between 2007 and 2011), consulted herbaria data from the region and made a phytosociological study in a stretch of coastal semideciduous forest (mata de tabuleiro). The study recorded 382 plant species from 96 families. In the phytosociological survey (0.32 ha) we recorded 2,970 individuals and 52 species. The most abundant plants surveyed were the trees Manilkara triflora, Chamaecrista ensiformis and Guapira nitida and the shrubs Cordiera sessilis and Maytenus erythroxyla (average height 3.8 m, average diameter 6.2 cm, basal area 39.28 m²/ha). The local flora includes floristic elements of caatinga, cerrado and restinga, corroborating the idea that the plant community of the coastal region of Ceará has an ecotonal nature.

Análise epidemiológica das fraturas acetabulares

This aim of this work was to carry out an epidemiological study on acetabular fractures in the city of Campinas and surrounds, in view of the few published papers on this subject. Medical files with a diagnosis of acetabular fracture between the years 2004 and 2008 that were made available by the Medical Archiving Service of Hospital das Clínicas, State University of Campinas (UNICAMP) were analyzed by six observers. Data on patients' ages, sex, side affected by the fracture, mechanism of injury, material used for synthesis, complications of the operation, associated fractures, length of hospitalization before and after the surgery, time of total internment and number of physiotherapy sessions before and after the surgery were gathered. It was observed in this population that the left side was more affected; the mechanism of injury that most often caused this type of fracture was automobile accidents; injuries to the sciatic nerve were the commonest surgical complications; and the synthesis material most used was reconstruction plates.

Avaliação da qualidade de vida em pacientes idosos um ano após o tratamento cirúrgico de fraturas transtrocanterianas do fêmur

OBJECTIVE: Evaluate the impact that trochanteric hip fractures produce on life quality of elderly patients, treated surgically, during one year of monitoring. METHODS: Were selected 73 elderly with transtrochanteric femur fracture, aged equal or over than 65 years and of both sexes. All participants underwent a standardized questionnaire which obtained information on lifestyle habits, functionality, physical activity, ambulation and cognitive state. Were excluded patients who died, not walking, with neurological diseases and pathological fractures. RESULTS: The average age was 80.17 ± 7.2 years and 75% was female. When comparing the summation of activities of daily living (p = 0.04) and instrumental daily living (p = 0.004) obtained before and after fracture, the patients become more dependent after fracture. Activities of daily living that worsened after fracture were bathing (p = 0.04), toileting (p = 0.02) and dressing (p = 0.04). All instrumental activities of daily living showed a significant difference, with functional dependence after fracture, increased need for walking aid (p = 0.00002), aged (p = 0.01) and not doing housework (p = 0.01). The low score on the test Minimental was associated with a greater dependence to perform activities of daily living before (p = 0.00002) and after (p = 0.01) fracture. CONCLUSION: After a year, activities of daily living that depended on the lower limbs worsened significantly, all instrumental activities of daily living were significantly worse in more than 50% of patients and more than half of patients who walked without support lost this ability.

Avaliação in vitro do aparelho DIAGNOdent para diagnóstico oclusal

The aim of this study was to determine the effectiveness and reliability of laser fluorescence measurements in relation to occlusal caries diagnosis. DIAGNOdent 2095 (Kavo, Biberach, Germany), which has been developed especially for caries diagnosis, was utilized. Five (5) teeth were examined in the pilot test; after that, ten (10) teeth were examined in order to calibrate both examiners. Data were obtained from 66 teeth (36 molars and 30 premolars), totalizing 144 sites identified through photographs of the occlusal surfaces. Reproducibility was evaluated in 10 teeth. The interexaminer Spearman correlation (r) was 0.89 and the intra-examiner, 0.93 and 0.97 (examiner A and B, respectively). Validation was carried out by histological examination (stereomicroscope). For the two examiners the sensitivity of the device was relatively high, varying from 0.81 to 1.00, while specificity varied according to which validation criterion was used (0.77 - 0.86: enamel lesion / 0.52 - 0.59: dentin lesion). It was concluded that DIAGNodent presented good capacity of identifying any alteration of the dental surface, nevertheless it presents the disadvantage of accomplishing many false-positive diagnosis when the validation criterion is dentin lesion.

Respostas cardiopulmonares agudas de mulheres no treinamento de força

OBJETIVE: Investigate the cardiopulmonary responses of one strength training session in young women. METHOD: Twenty-three women aged between 18 and 29 years participated in this study. All the volunteers were submitted to the following tests: cardiopulmonary and one-repetition maximum (1-RM). The strength training protocol had emphasis on muscular hypertrophy, three sets from eight to twelve repetitions under 70% of 1-RM, with a one minute thirty-second break between sets. During the training session, the cardiopulmonary variables were measured with a metabolic gas analyzer and a telemetry module. RESULTS: The results of the oxygen consumption in the training session were from 8.43 + 1.76 ml/kg/min and of the heart rate of 108.08 + 15.26 bpm. The results of the oxygen consumption and of the heart rate in the training were lower (p < 0.01) than in the ventilatory threshold and of the oxygen consumption and the heart rate reserves. CONCLUSION: The obtained data show that the present protocol of strength training provided low overload to the cardiopulmonary system of young women.

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.

Endocrinologia pediátrica 2011

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The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

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

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

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