Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report.

The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.

Spinal Cord Damage In Machado-joseph Disease.

Machado-Joseph disease (SCA3) is the most frequent spinocerebellar ataxia worldwide and characterized by remarkable phenotypic heterogeneity. MRI-based studies in SCA3 focused in the cerebellum and connections, but little is known about cord damage in the disease and its clinical relevance. To evaluate the spinal cord damage in SCA3 through quantitative analysis of MRI scans. A group of 48 patients with SCA3 and 48 age and gender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images to estimate the cervical spinal cord area (CA) and eccentricity (CE) at three C2/C3 levels based on a semi-automatic image segmentation protocol. The scale for assessment and rating of ataxia (SARA) was employed to quantify disease severity. The two groups-SCA3 and controls-were significantly different regarding CA (49.5 ± 7.3 vs 67.2 ± 6.3 mm(2), p < 0.001) and CE values (0.79 ± 0.06 vs 0.75 ± 0.05, p = 0.005). In addition, CA presented a significant correlation with SARA scores in the patient group (p = 0.010). CE was not associated with SARA scores (p = 0.857). In the multiple variable regression, we found that disease duration was the only variable associated with CA (coefficient = -0.629, p = 0.025). SCA3 is characterized by cervical cord atrophy and antero-posterior flattening. In addition, the spinal cord areas did correlate with disease severity. This suggests that quantitative analyses of the spinal cord MRI might be a useful biomarker in SCA3.

Obesity And Asthma: Beyond T(h)2 Inflammation.

Obesity is a major risk factor for asthma. Likewise, obesity is known to increase disease severity in asthmatic subjects and also to impair the efficacy of first-line treatment medications for asthma, worsening asthma control in obese patients. This concept is in agreement with the current understanding that some asthma phenotypes are not accompanied by detectable inflammation, and may not be ameliorated by classical anti-inflammatory therapy. There are growing evidences suggesting that the obesity-related asthma phenotype does not necessarily involve the classical T(H)2-dependent inflammatory process. Hormones involved in glucose homeostasis and in the pathogeneses of obesity likely directly or indirectly link obesity and asthma through inflammatory and non-inflammatory pathways. Furthermore, the endocrine regulation of the airway-related pre-ganglionic nerves likely contributes to airway hyperreactivity (AHR) in obese states. In this review, we focused our efforts on understanding the mechanism underlying obesity-related asthma by exploring the T(H)2-independent mechanisms leading to this disease.

Aspectos técnicos da monitorização da pressão intracraniana pelo método subaracnóideo no traumatismo craniencefálico grave

Two hundred and six patients with severe head injury (Glasgow Coma Scale of 8 points or less after nonsurgical resuscitation on admission), managed at Intensive Care Unit-Hospital das Clínicas - Universidade Estadual de Campinas were prospectively analysed. All patients were assessed by CT scan and 72 required neurosurgical intervention. All patients were continuously monitored to evaluate intracranial pressure (ICP) levels by a subarachnoid device (11 with subarachnoid metallic bolts and 195 with subarachnoid polyvinyl catheters). The ICP levels were continuously observed in the bedside pressure monitor display and their end-hour values were recorded in a standard chart. The patients were managed according to a standard protocol guided by the ICP levels. There were no intracranial haemorrhagic complications or hematomas due the monitoring method. Sixty six patients were punctured by lateral C1-C2 technique to assess infectious complications and 2 had positive cerebrospinal fluid samples for Acinetobacter sp. The final results measured at hospital discharge showed 75 deaths (36,40%) and 131 (63,60%) survivors. ICP levels had significantly influenced the final results (p<0,001). The subarachnoid method to continuously assess the ICP levels was considered aplicable, safe, simple, low cost and useful to advise the management of the patients. The ICP record methodology was practical and useful. Despite the current technical advances the subarachnoid method was considered viable to assess the ICP levels in severe head injury.

Contribution of skin immunohistochemistry in the evaluation of nerve fibers in diabetes mellitus type 2

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Polímeros biomiméticos em química analítica. Parte 2: aplicações de MIP (Molecularly Imprinted Polymers) no desenvolvimento de sensores químicos

The aim of this paper is the description of the strategies and advances in the use of MIP in the development of chemical sensors. MIP has been considered an emerging technology, which allows the synthesis of materials that can mimic some highly specific natural receptors such as antibodies and enzymes. In recent years a great number of publications have demonstrated a growth in their use as sensing phases in the construction of sensors . Thus, the MIP technology became very attractive as a promising analytical tool for the development of sensors.

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).

Synthesis, characterization, DFT and Td-dfT study of the [Fe(mnt)(L)(t-BuNC) 2] octahedral complex (L = phen, bipy)

FeBr2 has reacted with an equivalent of mnt2- (mnt = cis-1,2-dicyanoethylene-1,2-dithiolate) and the α-diimine L (L = 1,10'-phenantroline, 2,2'-bipyridine) in THF solution, and followed by adding of t-butyl-isocyanide to give [Fe(mnt)(L)(t-BuNC)2] neutral compound. The products were characterized by infrared, UV-visible and Mössbauer spectroscopy, besides thermogravimetric and conductivity data. The geometry in the equilibrium was calculated by the density functional theory and the electronic spectrum by the time-dependent. The experimental and theoretical results in good agreement have defined an octahedral geometry with two isocyanide neighbours. The π→π* intraligand electronic transition was not observed for cis-isomers in the near-IR spectral region.

Equipamento microprocessado para geração de sinal de correção diferencial, em tempo real, para GPS

This work presents the development of low cost microprocessor-based equipment for generation of differential GPS correction signal, in real time, and configuration and supervision of the GPS base. The developed equipment contains a dedicated microcontroller connected to the GPS receiver, alphanumeric display and multifunction keyboard for configuration and operation of the system and communication interfaces. The electronic circuit has the function of receiving the information from GPS base; interpret them, converting the sentence in the RTCM SC-104 protocol. The microcontroller software makes the conversion of the signal received by the GPS base from the specific format to RTCM SC-104 protocol. The processing main board has two serials RS-232C standard interfaces. One of them is used for configuration and receiving the information generated by the GPS base. The other operates as output, sending the differential correction signal for the transmission system. The development of microprocessor-based equipment showed that it is possible the construction of a low cost private station for real time generation of differential GPS correction signal.

Gluttonous predators: how to estimate prey size when there are too many prey

Prey size is an important factor in food consumption. In studies of feeding ecology, prey items are usually measured individually using calipers or ocular micrometers. Among amphibians and reptiles, there are species that feed on large numbers of small prey items (e.g. ants, termites). This high intake makes it difficult to estimate prey size consumed by these animals. We addressed this problem by developing and evaluating a procedure for subsampling the stomach contents of such predators in order to estimate prey size. Specifically, we developed a protocol based on a bootstrap procedure to obtain a subsample with a precision error of at the most 5%, with a confidence level of at least 95%. This guideline should reduce the sampling effort and facilitate future studies on the feeding habits of amphibians and reptiles, and also provide a means of obtaining precise estimates of prey size.

Diabetologia intervencional: uma nova abordagem para o tratamento cirúrgico do diabetes tipo 2

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Association of insulin resistance and GLP-2 secretion in obesity: a pilot study

OBJECTIVE: The objective of this pilot study was to determine whether glugagon-like peptide 2 (GLP-2) secretion relates to insulin sensitivity (IS) in obese subjects. SUBJECTS AND METHODS: Twenty four obese subjects [body mass index (BMI) 40.0 ± 3.0 kg/m² (mean ± standard deviation)] were included, nine of which were male, age 43 ± 8 years. Twelve subjects had type 2 diabetes, all treated with oral anti-diabetic agents only. The subjects were submitted to standard meal tolerance test (MTT) for dosage of the curves: glucose, insulin, and GLP-2. Insulin sensitivity was measured by HOMA-IR, and OGIS was derived from the MTT. Spearman linear correlations and partial correlations were obtained. RESULTS: There was an inverse relationship between the GLP-2 secretion and IS: HOMA-IR correlated with GLP-2 AUC (R = 0.504; p = 0.012), and OGIS correlated with GLP-2 incremental AUC (R = -0.54; p = 0.054). The correlation persisted after controlling for BMI. CONCLUSION: We found an association of GLP-2 secretion and insulin resistance (IR). The understanding of the underlying mechanisms may provide future directions in the pharmacological manipulation of incretins, and in the treatment of obesity and related metabolic disorders.

Comparison between the 1% and 2% ibopamine provocative test in primary open-angle glaucoma patients: sensitivity, specificity and tolerability

PURPOSE: To compare intraocular pressure (IOP) rise in normal individuals and primary open-angle glaucoma patients and the safety and efficacy of ibopamine eye drops in different concentrations as a provocative test for glaucoma. METHODS: Glaucoma patients underwent (same eye) the ibopamine provocative test with two concentrations, 1% and 2%, in a random sequence at least 3 weeks apart, but not more than 3 months. The normal individuals were randomly submitted to one of the concentrations of ibopamine (1% and 2%). The test was considered positive if there was an IOP rise greater than 3 or 4 mmHg at 30 or 45 minutes to test which subset of the test has the best sensitivity (Se)/specificity (Sp). RESULTS: There was no statistically significant difference in any of the IOP measurements, comparing 1% with 2% ibopamine. The IOP was significantly higher at 30 and 45 minutes with both concentrations (p<0.001). The best sensitivity/specificity ratio was achieved with the cutoff point set as greater than 3 mmHg at 45 minutes with 2% ibopamine (area under the ROC curve: 0.864, Se: 84.6%; Sp:73.3%). All patients described a slight burning after ibopamine's instillation. CONCLUSION: 2% ibopamine is recommended as a provocative test for glaucoma. Because both concentrations have similar ability to rise IOP, 1% ibopamine may be used to treat ocular hypotony.

Ibopamina 2% vs. sobrecarga hídrica como teste provocativo para glaucoma

PURPOSE: To compare the 2% ibopamine provocative test with the water drinking test as a provocative test for glaucoma. METHODS: Primary open-angle glaucoma patients and normal individuals were selected from CEROF-Universidade Federal de Goiânia UFG, and underwent the 2% ibopamine provocative test and the water drinking test in a randomized fashion, at least 1 week apart. Intraocular pressure (IOP) before and after both tests, Bland-Altman graph, sensitivity and specificity (as mesured by ROC curves) were obtained for both methods. RESULTS: Forty-seven eyes from 25 patients were included (27 eyes from 15 glaucoma patients and 20 eyes from 10 normal individuals), with a mean age of 54.2 ± 12.7 years. The mean MD of glaucoma patients was -2.8 ± 2.11 dB. There was no statistically difference in the baseline IOP (p=0.8) comparing glaucoma patients, but positive after the provocative tests (p=0.03), and in the IOP variation (4.4 ± 1.3 mmHg for ibopamine and 3.2 ± 2.2 mmHg for water drinking test, p=0.01). There was no difference in all studied parameters for normal individuals. The Bland-Altman graph showed high dispersion comparing both methods. The areas under the ROC curve were 0.987 for the ibopamine provocative test, and 0.807 for the water-drinking test. CONCLUSION: In this selected subgroup of glaucoma patients with early visual field defect, the ibopamine provocative test has shown better sensitivity/specificity than the water drinking test.

Cinética de remoção de lactato na definição de pausas para treinamento intervalado de alta intensidade

Universidade Estadual de Campinas . Faculdade de Educação Física