Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.

Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypoglycemia, and development of embryonic tumors. BWS occurs due to genetic/epigenetic changes involving growth-regulating genes, located on region 11p15, with an important genotype-phenotype correlation. Congenital adrenal hyperplasia (CAH) comprises a spectrum of autosomal recessive diseases presenting a variety of clinical manifestations due to a deficiency in one of the enzymes involved in cortisol secretion. Early diagnosis based on newborn screening prevents the adrenal crisis and early infant death. However, high 17-hydroxyprogesterone (17-OHP) levels can occur in newborns or premature infants without CAH, in situations of stress due to maternal or neonatal factors. Here, we report new cases of false-positive diagnosis of 21-hydroxylase deficiency during newborn screening - two girls and one boy with BWS. Methylation-specific multiplex ligation-dependent probe amplification revealed a gain of methylation in the H19 differentially methylated region. Notably, all three cases showed a complete normalization of biochemical changes, highlighting the transient nature of these hormonal findings that imitate the classical form of CAH. This report sheds light on a new cause of false-positive 21-hydroxylase deficiency diagnosis during newborn screening: Beckwith-Wiedemann syndrome.

Glyphosate-Based Herbicide Causes Cellular Alterations to Gut Epithelium of the Neotropical Stingless Bee Melipona quadrifasciata quadrifasciata (Hymenoptera: Meliponini).

Glyphosate-based herbicides (GBH) are the best-selling pesticides in Brazil, with hundreds of thousands of tons sold per year. There is no study investigating morphological alterations caused by GBH on the epithelium of the gut in bees. Here, we aimed to demonstrate effects of chronic ingestion of GBH in the midgut digestive cells of the Brazilian stingless bee Melipona quadrifasciata quadrifasciata Lepeletier 1836. We kept forager workers of M. quadrifasciata in laboratory conditions and fed on food contaminated with three different concentrations of GBH for 10 days, after which the midgut digestive cell structure and ultrastructure were analyzed. The presence of GBH in food did not affect food consumption, indicating that M. quadrifasciata bees do not reject food contaminated with GBH. As digestive cells of the midgut release apocrine secretion as a detoxication mechanism, we expected that the ingestion of food contaminated with GBH in the present study affect the height of midgut digestive cells. However, such reduction did not occur, probably because of the low-test concentrations. Although there were differences in digestive cell ultrastructure, ingestion of GBH impaired midgut digestive cell cohesion by disorganizing the smooth septate junctions between cells, which may probably be caused by the adjuvant "polyethoxylated tallow amine" present in the GBH. Previous studies demonstrated that GBH increase bees' sensibility to intestine infections, based on the present results we hypothesized that the loss of cell cohesion in the midgut epithelium favors pathogenic microbial infections and harms food absorption, increasing bees' mortality.

Three new species of the Neurigona orbicularis species group from Brazil (Diptera: Dolichopodidae).

The Neurigona orbicularis species group (Diptera: Dolichopodidae) is recorded from Brazil for the first time, and three new species are described and illustrated, including figures of the male genitalia: N. lopesi sp. nov. (Tocantins and Gois, Cerrado biome), N. papaveroi sp. nov. (Mato Grosso, Cerrado biome) and N. tingua sp. nov. (Rio de Janeiro, Atlantic Forest biome). Additionally, N. orbicularis Becker, previously known only from the type-locality in Paraguay, is newly recorded from the Brazilian States of Mato Grosso do Sul (Pantanal biome) and So Paulo (Atlantic Forest biome) and its hypopygium is also illustrated. An updated identification key to males of the orbicularis-group is provided.

Enhanced Solubility of Albendazole in Cyclodextrin Inclusion Complex: A Molecular Modeling Approach and Physicochemical Evaluation.

BACKGROUND: Albendazole (ABZ) is the drug of choice for the treatment of a variety of human and veterinary parasites. However, it has low aqueous solubility and low bioavailability. Cyclodextrins (CD) are pharmaceutical excipients with the ability to modulate the solubilization property of hydrophobic molecules. OBJECTIVE: The aim of the study was to analyze through in vitro and in silico studies (Autodock Vina software and CycloMolder platform) the formation of inclusion complexes between ABZ, ß-cyclodextrin (ß-CD) and its derivatives Methyl-ß-cyclodextrin (M-ß-CD) and Hydroxypropyl-ß-cyclodextrin (HP-ß-CD). METHODS: The most stable inclusion complexes were produced by the kneading method and characterized by Fourier Transform Infrared Spectroscopy (FTIR), Differential Scanning Calorimetry (DSC), X-Ray Diffraction (XRD), determination of the ABZ content and in vitro dissolution profile. RESULTS: Molecular modeling revealed that inclusion complexes between HP-ß-CD:ABZ (in the proportion 1:1 and 2:1) presented the lowest formation energy and the highest number of intermolecular interactions, showing that the use of more cyclodextrins does not generate gains in the stability of the complex. On the characterization tests, the complexes experimentally obtained by the kneading method demonstrated highly suggestive parameters, including ABZ in HP-ß-CD in both molar proportions, suppression of bands in the infrared spectrum, displacement of the drug's melting temperature in DSC, crystallinity halos instead of the characteristic peaks of ABZ crystals in the XRD and a release of more than 80% of ABZ in less than 5 minutes, dissolution efficiency of up to 92%. CONCLUSION: In silico studies provided a rational selection of the appropriate complexes of cyclodextrin, enabling the elaboration of more targeted complexes, decreasing time and costs for elaboration of new formulations, thereby increasing the oral biodisponibility of ABZ.

Critical Frequency of Self-Heating in a Superelastic Ni-Ti Belleville Spring: Experimental Characterization and Numerical Simulation.

The mechanical loading frequency affects the functional properties of shape memory alloys (SMA). Thus, it is crucial to study its effect for the successful use of these materials in dynamic applications. Based on the superelastic cyclic behavior, this work presents an experimental methodology for the determination of the critical frequency of the self-heating of a NiTi Belleville conical spring. For this, cyclic compressive tests were carried out using a universal testing machine with loading frequencies ranging from 0.5 Hz to 10 Hz. The temperature variation during the cyclic tests was monitored using a micro thermocouple glued to the NiTi Belleville spring. Numerical simulations of the spring under quasi-static loadings were performed to assist the analysis. From the experimental methodology applied to the Belleville spring, a self-heating frequency of 1.7 Hz was identified. The self-heating is caused by the latent heat accumulation generated by successive cycles of stress-induced phase transformation in the material. At 2.0 Hz, an increase of 1.2 °C in the average temperature of the SMA device was verified between 1st and 128th superelastic cycles. At 10 Hz, the average temperature increase reached 7.9 °C and caused a 10% increase in the stiffness and 25% decrease in the viscous damping factor. Finally, predicted results of the force as a function of the loading frequency were obtained.

Reduction of synchronous reluctance motor currents with minimization of direct and cross saturation magnetic model.

In this paper, two cost functions are presented which are minimized to provide the optimized reference currents for the controlled drive of the synchronous reluctance motor. Since the synchronous reluctance motor operation is divided into two operating regions: one up to rated speed (0-1740 rpm), known as constant torque region and variable power, and other above this speed, called field weakening region (1740-2000 rpm), each of the cost functions proposals is appropriate for a specific region. The optimization problem is solved by the method of Lagrange Multiplier which allows finding the minimum value of a function with one or more constraints. The tests show a reduction in the motor current value of around 2%.

Epidemic spreading with awareness and different timescales in multiplex networks.

One of the major issues in theoretical modeling of epidemic spreading is the development of methods to control the transmission of an infectious agent. Human behavior plays a fundamental role in the spreading dynamics and can be used to stop a disease from spreading or to reduce its burden, as individuals aware of the presence of a disease can take measures to reduce their exposure to contagion. In this paper, we propose a mathematical model for the spread of diseases with awareness in complex networks. Unlike previous models, the information is propagated following a generalized Maki-Thompson rumor model. Flexibility on the timescale between information and disease spreading is also included. We verify that the velocity characterizing the diffusion of information awareness greatly influences the disease prevalence. We also show that a reduction in the fraction of unaware individuals does not always imply a decrease of the prevalence, as the relative timescale between disease and awareness spreading plays a crucial role in the systems' dynamics. This result is shown to be independent of the network topology. We finally calculate the epidemic threshold of our model, and show that it does not depend on the relative timescale. Our results provide a new view on how information influence disease spreading and can be used for the development of more efficient methods for disease control.

Continuous Loading of Ultracold Ground-State

We have developed an approach to continuously load ultracold ^{85}Rb_{2} vibrational ground-state molecules into a crossed optical dipole trap from a magneto-optical trap. The technique relies on a single high-power light beam with a broad spectrum superimposed onto a narrow peak at an energy of about 9400 cm^{-1}. This single laser source performs all the required steps: the short-range photoassociation creating ground-state molecules after radiative emission, the cooling of the molecular vibrational population down to the lowest vibrational level v_{X}=0, and the optical trapping of these molecules. Furthermore, we probe by depletion spectroscopy and determine that 75% of the v_{X}=0 ground-state molecules are in the three lowest rotational levels J_{X}=0, 1, 2. The lifetime of the ultracold molecules in the optical dipole trap is limited to about 70 ms by off-resonant light scattering. The proposed technique opens perspectives for the formation of new molecular species in the ultracold domain, which are not yet accessible by well-established approaches.

The participation of Early Maladaptive Schemas (EMSs) in the perception of pain in patients with migraine: A psychological profile.

Young's early maladaptive schemas questionnaire (YSQ-S3) is used to understand psychological aspects. OBJECTIVE: EMSs were evaluated in patients with migraine. METHODS: Sixty-five subjects were evaluated using the YSQ-S3 under standard conditions in a room with air conditioning at 22 ± 2°C. The subjects were stratified by morbidity (migraine), gender (male/female) and age (18-29 / 30-39 / 40-55). Controls (without migraine), n = 27 and patients (with migraine), n = 38, men (n = 19) and women (n = 46); participants aged 18-29 years, n = 34, aged 30-39 years, n = 14 and aged 40-55 years, n = 17. Data were analyzed using the Chi-square test, with p-values <0.05. Results were expressed as percentages in contingency tables. RESULTS: There was a significant association between migraine and female gender (84.21%; p-value <0.05, Table 1), between hypervigilance and inhibition, and unrelenting standards (56.52%; p-value <0.0.014, Table 2) and female gender with migraine. Moreover, there was a significant association between hypervigilance and inhibition, and unrelenting standards (73.68%; p-value <0.0001) and self-punishment (84.21%; p-value <0.0001) in patients with migraine of both genders (Table 3). CONCLUSION: The individuals with migraine had a psychological profile of being overly demanding with themselves and others and self-punishing, where this was more frequent in women.

O questionário de esquemas iniciais desadaptativos de Young (YSQ-S3) é usado para se entender aspectos psicológicos. OBJETIVO: Os EIDs foram avaliados em pacientes com migrânea. MÉTODOS: Sessenta e cinco indivíduos foram avaliados utilizando YSQ-S3 sob condições padrão em uma sala com ar condicionado a 22 ± 2°C. Os sujeitos foram estratificados pela morbidade (migrânea), por gênero (masculino/feminino) e por idade (18-29 / 30-39 / 40-55). Controle (sem migrânea), n = 27 e com migrânea, n = 38, homens (n ​​= 19) e mulheres (n = 46); indivíduos com idade entre 18 a 29 anos, n = 34, entre 30-39 anos, n = 14 e entre 40-55 anos, n = 17. Os dados foram analisados ​​usando o teste do qui-quadrado, com valores p <0,05. Os resultados foram expressos em porcentagens em tabelas de contingência. RESULTADOS: Houve associação significativa entre migrânea e gênero feminino (84,21%; p-valor <0,05, Tabela 1), entre hipervigilância e inibição, e padrões excessivamente rígidos ​​(56,52%; p-valor <0,0,014, Tabela 2) e gênero feminino com migrânea. Além disso, houve associação significativa entre hipervigilância e inibição, e padrões excessivamente rígidos ​​(73,68%; p-valor <0,0001) e autopunição (84,21%; p-valor <0,0001) em pacientes com migrânea de ambos os gêneros (Tabela 3). CONCLUSÃO: Os indivíduos com migrânea têm um perfil psicológico de serem excessivamente exigentes consigo e com os outros e de se autopunirem, sendo isso mais frequente em mulheres.

Índice de massa corporal e circunferência abdominal entre adolescentes no interior do Piauí, Brasil / Body mass index and abdominal circumference among teens in the countryside of Piauí, Brazil

Técnicas antropométricas, que estabeleçam o diagnóstico de sobrepeso/obesidade, como o Índice de Massa Corporal (IMC) e a Circunferência Abdominal (CA), são cada vez mais importantes. Objetivou-se conhecer o IMC e relacionar com a CA de adolescentes escolares de duas instituições piauienses. Estudo descritivo e transversal de prevalência quantitativa, realizado em duas escolas públicas de Picos - PI, com 145 adolescentes com idade entre 12 e 18 anos de ambos os sexos. A coleta dos dados foi realizada através de um formulário nos meses de agosto a dezembro de 2010. A prevalência de excesso de peso foi de 3,7%. O excesso de peso encontrou-se associado ao aumento da CA (< 0,0001). Esses resultados reforçam a pertinência de se realizar ações de prevenção e controle do excesso de peso a fim de que a saúde dos adolescentes seja mantida.

[Medical prescriptions: adequate orientation to medicine use?]. / Prescrição médica: orientações adequadas para o uso de medicamentos?

During physician's consultation, the lack of adequate information on medication to the patient is a major problem to reach the correct pharmacotherapy. This study aims at assessing the patient knowledge about prescribed drugs. In order to proceed the investigation, interviews were performed about type of medication, dosage, administration schedule, purpose, duration of treatment and side effects. From 199 patients interviewed after they had received a prescription, 53.8% didn't have any information about the medicine, 20.3% didn't know the dosage and 25.4% didn't know the medication schedule. The purpose of the medication was the information with the highest percentage of correct answers, with 75.1% of the patients showing good level of knowledge. Regarding to the duration of the treatment and side effects, 57.4% and 94.4% of the patients, respectively, didn't present any correct information. Results suggest that the majority of the patients didn't have sufficient and safe knowledge to the use of prescribed medication.

Oral manifestations of celiac disease. A case report and review of the literature.

Celiac disease is a chronic intestinal disease caused by intolerance to gluten associated with poor digestion and absorption of the majority of nutrients and vitamins, which may affect both developing dentition and oral mucosa. The aim of this study is to make a brief review of the literature about celiac disease and to report on a clinical case, showing the impact it may have on the general and oral health. A 39-year-old woman reported the presence of diarrhea, nauseas, flatulence, colic, difficulty with falling asleep, lack of appetite and loose of 18 Kg in the last two years. She also noted the appearance of symptomatic lesions in the mouth. These lesions had a mean duration of a month and occurred in any region of the oral mucosa, particularly on the tongue. Multiples ulcerations were found in the sublingual caruncula region, at the vestibular fornix and at the lingual apex. Topical treatment was instituted for the oral lesions with immediately relief of the symptoms. The diagnosis of celiac disease was established by means of medical clinical exam, biopsy of the small intestine, and by the presence of specific antibodies in the blood. The patient has been instructed to follow a gluten-free diet. Multiprofessional action with the involvement of a gastroenterologist and other health professionals, such as dentists, is important for diagnosing the disease and guiding the patient with celiac disease to achieve a good quality of life.

Prognostic factors in invasive squamous cell carcinoma of the penis: analysis of 196 patients treated at the Brazilian National Cancer Institute.

PURPOSE: We evaluated the role of primary tumor histopathological features for predicting regional metastasis and the prognosis in patients with penile squamous cell carcinoma. MATERIALS AND METHODS: From April 1996 to January 2007, 202 consecutive patients with penile carcinoma underwent surgical treatment at our institution. Of these patients 196 were studied to identify prognostic factors. All histological specimens were examined by the same pathologist. We considered certain histological parameters, including histological grade, invasion depth, lymphovascular embolization, perineural infiltration, infiltration of the corpus cavernosum or spongiosum, urethral infiltration and koilocytosis. RESULTS: Variables significantly associated with regional metastasis on univariate analysis were stage stratification (p = 0.0338), histological grade (p = 0.0112), invasion depth (0.0114), lymphovascular embolization (p <0.0001), perineural infiltration (p = 0.0092), corpora cavernosa infiltration (p = 0.0005) and koilocytosis (p = 0.0013). In the multivariable model lymphovascular embolization and absent koilocytosis were independent risk factors for lymphatic metastasis (p = 0.001 and 0.009, respectively). We also found a better survival rate in patients with koilocytosis and without lymphovascular embolization (p = 0.001 and 0.005, respectively). CONCLUSIONS: Lymphovascular embolization and absent koilocytosis were independent prognostic factors for the risk of lymphatic metastasis. Patients with koilocytosis and without lymphovascular embolization had better 5-year survival.

Case of recurrent paracoccidioidomycosis in female. 10 years after initial treatment.

This report describes a case of recurrence of chronic paracoccidioidomycosis 10 years following the initial diagnosis. A 56-year-old female was admitted to the Dental Clinic of the Pontifical Catholic University of Paraná complaining of oral soreness. Mulberry-like ulcerations were observed on the gingiva, right labial comissura, and vermillion of the lip. The patient reported persistent chronic cough, weight loss, appetite loss and fever. The anamnesis revealed that the patient had developed and been treated for paracoccidioidomycosis 10 years earlier. A biopsy was performed and microscopic examination revealed microabscesses, collections of macrophages organized into granulomas, multinucleated giant cells and Paracoccidioides brasiliensis. The patient was treated with Itraconazole and, the oral lesions disappeared within 3 months. Persistent follow-up examination in patients with a history of paracoccidioidomycosis is essential in the management of this disease.