Microsatellite allele sequencing in population analyses of the South American cactophilic species Drosophila antonietae (Diptera: Drosophilidae)

Drosophila antonietae belongs to the Drosophila buzzatii cluster, a cactophilic group of species naturally endemic to South America. Morphological and genetic analyses indicate that its populations are the most homogenous in the cluster and that the diversity observed is mainly a result of variation within populations. Seven polymorphic microsatellite loci were described for this species and used in the present study to investigate the genetic diversity of natural populations of D. antonietae by both length and sequence variation. The study aimed to understand how homoplasy and null alleles affect inferences about the population history of this species and to obtain an accurate interpretation of population inferences where these loci could be applied. The results provide useful information on the interpretation of genetic data derived from the microsatellite loci described for D. antonietae and on evolutionary aspects of cactophilic Drosophila. Importantly, the results indicate that size homoplasy and null alleles do not represent significant problems for the population genetics analyses because the large amount of variability at microsatellite loci compensate the low frequency of these problems in the populations. (C) 2010 The Linnean Society of London, Biological Journal of the Linnean Society, 2010, 100, 573-584.

Allozymatic divergence between border populations of two cryptic species of the Drosophila buzzatii cluster species (Diptera: Drosophilidae)

Drosophila antonietae and Drosophila gouveai are allopatric, cactophilic, cryptic and endemic of South America species, which aedeagus morphology is considered the main diagnostic character. In this work, single close populations from the edge distributions of each species, located in an ""introgressive corridor"", were analyzed regarding temporal isozenzymatic genetic variability. Isocitrate dehydrogenase (Idh) appeared as a diagnostic locus between D. antonieate and D. gouveai because each population was fixed for different alleles. Moreover, several polymorphic loci showed accentuated divergence in the allele frequency, as evidenced by Nei`s l(0.3188) and D (1.1432), and also by Reynolds` genetic distance and identity (1.3207 and 0.7331, respectively). Our results showed that, in spite of the very similar external morphology, related evolutionary histories, close distributions, and events of introgression in the studied area, these cryptic species have high allozymatic differentiation, and this is discussed here. (C) 2010 Elsevier Ltd. All rights reserved.

Reproductive strategy of the snapping shrimp Alpheus armillatus H. Milne-Edwards, 1837 in the South Atlantic: fecundity, egg features, and reproductive output

The family Alpheidae, composed by shrimps of relatively small size, popularly known as snapping shrimps, is the one of the most diverse decapod groups. These shrimps are found worldwide and Occur in tropical and subtropical waters, from the intertidal zone to great depths. We investigated reproductive aspects of Alpheus armillatus, in order to gather information on egg production, aiming to enhance knowledge of its reproductive strategies in a population in an intertidal area of the South Atlantic. Ovigerous females were collected under rocks, in May and July 2006 (dry season) and in November 2006 and March 2007 (rainy season). Egg production and reproductive output were analyzed and compared seasonally and during the period of embryonic development. Females measured on average 11.28 mm CL with a mean of 763 eggs and 0.11 mm(3) egg volume. The egg volume of this population was smaller than previous estimates for other species of snapping shrimps, but the mean egg number was higher. The volume of eggs doubled during the incubation period, but despite this increase, no significant loss of eggs was observed. Alpheus armillatus invests oil average about 12% of body weight in reproduction. The proportional investment in egg production IS Significantly higher in the rainy season when compared with the dry season (17.9% vs 4.8%), correlated with higher temperatures and increased food availability at this time. Our results corroborated the hypothesis of a pattern of egg production influenced by environmental conditions and intraspecific variability among the family Alpheidae, as a function of the biogeographic region.

Experimental study of the deposition of combustion aerosols in the human respiratory tract

The total deposition of environmental tobacco smoke (ETS), diesel and petrol smoke in the respiratory tract of 14 non-smokers between the ages of 20 and 30 was determined experimentally. A scanning mobility particle sizer (SMPS) measuring a size range of 0.016-0.626 mu m was used to characterise the inhaled and exhaled aerosol during relaxed nasal breathing over a period of 10 min. The ETS, diesel, and petrol particles had average count median diameter (and geometric standard deviation) of 0.183 mu m (1.7), 0.125 mu m (1.7), and 0.069 mu m (1.7), respectively. The average total number deposition of ETS was 36% (standard deviation 10%), of diesel smoke 30% (standard deviation 9%), and of petrol smoke 41% (standard deviation 8%). The analysis of the deposition patterns as a function of particle size for the three aerosols in each individual showed that there is a significant difference between each aerosol for a majority of individuals (12 out of 14). This is an important result as it indicates that differences persist regardless of inter-subject variability. (C) 2005 Elsevier Ltd. All rights reserved.

The fMRI response of the LGN and V1 to cardinal red-green, blue-yellow, and achromatic visual stimuli

We compared the responsiveness of the LGN and the early retinotopic cortical areas to stimulation of the two cone-opponent systems (red - green and blue - yellow) and the achromatic system. This was done at two contrast levels to control for any effect of contrast. MR images were acquired on seven subjects with a 4T Bruker MedSpec scanner. The early visual cortical areas were localised by phase encoded retinotopic mapping with a volumetric analysis (Dumoulin et al, 2003 NeuroImage 18 576 - 587). We initially located the LGN in four subjects by using flickering stimuli in a separate scanning session, but subsequently identified it using the experimental stimuli. Experimental stimuli were sine-wave counterphasing rings (2 Hz, 0.5 cycle deg-1), cardinal for the selective activation of the L/M cone-opponent (RG), S cone-opponent (BY), and achromatic (Ach) systems. A region of interest analysis was performed. When presented at equivalent absolute contrasts (cone contrast = 5% - 6%), the BOLD response of the LGN is strongest to isoluminant red - green stimuli and weakest to blue - yellow stimuli, with the achromatic response falling in between. Area V1, on the other hand, responds best to both chromatic stimuli, with the achromatic response falling below. The key change from the LGN to V1 is a dramatic boost in the relative blue - yellow response, which occurred at both contrast levels used. This greatly enhanced cortical response to blue - yellow relative to the red - green and achromatic responses may be due to an increase in cell number and/or cell response between the LGN and V1. We speculate that the effect might reflect the operation of contrast constancy across colour mechanisms at the cortical level.

A randomized double-blind placebo-controlled study of the long-term efficacy and safety of diethylpropion in the treatment of obese subjects

Objective: To evaluate the efficacy of diethylpropion on a long-term basis, with emphasis in cardiovascular and psychiatric safety aspects. Design: Randomized, double-blind, placebo-controlled trial Measurements: Following a 2-week screening period, 69 obese healthy adults received a hypocaloric diet and were randomized to diethylpropion 50 mg BID (n = 37) or placebo (n = 32) for 6 months. After this period, all participants received diethylpropion in an open-label extension for an additional 6 months. The primary outcome was percentage change in body weight. Electrocardiogram (ECG), echocardiography and clinical chemistry were performed at baseline and every 6 months. Psychiatric evaluation and application of Hamilton rating scales for depression and anxiety were also performed by experienced psychiatrists at baseline and every 3 months. Results: After 6 months, the diethylpropion group lost an average of 9.8% (s.d. 6.9%) of initial body weight vs 3.2% (3.7%) in the placebo group (P < 0.0001). From baseline to month 12, the mean weight loss produced by diethylpropion was 10.6% (8.3%). Participants in the placebo group who were switched to diethylpropion after 6 months lost an average of 7.0% (7.7%) of initial body weight. The difference between groups at month 12 was not significant (P = 0.07). No differences in blood pressure, pulse rate, ECG and psychiatric evaluation were observed. Dry mouth and insomnia were the most frequent adverse events. Conclusion: Diethylpropion plus diet produced sustained and clinically significant weight loss over 1 year. It seems to be safe in relation to cardiovascular and psychiatric aspects in a well-selected population. International Journal of Obesity (2009) 33, 857-865; doi: 10.1038/ijo.2009.124; published online 30 June 2009

Selective Vagal Denervation of the Sinus and Atrioventricular Nodes, Guided by Vagal Reflexes Induced by High Frequency Stimulation, to Treat Refractory Neurally Mediated Syncope

Vagal Denervation and Neurally Mediated Syncope. A 15-year-old female patient presented with frequent episodes of vasovagal syncope refractory to non-pharmacological and pharmacological measures. Two tilt-table tests performed before and after conventional therapy were positive and reproduced the patient`s clinical symptoms. Selective vagal denervation, guided by HFS, was performed. Six radiofrequency pulses were applied on the left and right sides of the interatrial septum, abolishing vagal responses at these locations. Basal sinus node and Wenckebach cycle lengths changed significantly following ablation. A tilt test performed after denervation was negative and revealed autonomic tone modification. The patient reported significant improvement in quality of life and remained asymptomatic for 9 months after denervation. After this period, three episodes of NMS occurred during a 4-month interval and a tilt test performed 11 months after the procedure demonstrated vagal activity recovery. (J Cardiovasc Electrophysiol, Vol. 20, pp. 558-563, May 2009).

Comparison of Quantitative T-Wave Alternans Profiles of Healthy Subjects and ICD Patients

Background: Current relevance of T-wave alternans is based on its association with electrical disorder and elevated cardiac risk. Quantitative reports would improve understanding on TWA augmentation mechanisms during mental stress or prior to tachyarrhythmias. However, little information is available about quantitative TWA values in clinical populations. This study aims to create and compare TWA profiles of healthy subjects and ICD patients, evaluated on treadmill stress protocols. Methods: Apparently healthy subjects, not in use of any medication were recruited. All eligible ICD patients were capable of performing an attenuated stress test. TWA analysis was performed during a 15-lead treadmill test. The derived comparative profile consisted of TWA amplitude and its associated heart rate, at rest (baseline) and at peak TWA value. Chi-square or Mann-Whitney tests were used with p values <= 0.05. Discriminatory performance was evaluated by a binary logistic regression model. Results: 31 healthy subjects (8F, 23M) and 32 ICD patients (10F, 22M) were different on baseline TWA (1 +/- 2 mu V; 8 +/- 9 mu V; p < 0.001) and peak TWA values (26 +/- 13 mu V; 37 +/- 20 mu V; p = 0,009) as well as on baseline TWA heart rate (79 +/- 10 bpm; 67 +/- 15 bpm; p < 0.001) and peak TWA heart rate (118 +/- 8 bpm; 90 +/- 17 bpm; p < 0.001). The logistic model yielded sensitivity and specificity values of 88.9% and 92.9%, respectively. Conclusions: Healthy subjects and ICD patients have distinct TWA profiles. The new TWA profile representation (in amplitude-heart rate pairs) may help comparison among different research protocols. Ann Noninvasive Electrocardiol 2009;14(2):108-118.

Age and Method-dependent Variability of Predicted Oxygen Consumption in Congenital Heart Disease

Background and Purpose. There has been a lot of debate about the use of predicted oxygen consumption to calculate pulmonary vascular resistance using the Fick principle. We therefore comparatively analyzed predicted oxygen consumption in infants and children in specific age groups, using different methods (formulas), as an attempt to better understand the usefulness and limitations of predictions. Methods and Results. Four models (LaFarge & Miettinen, Bergstra et al., Lindahl, and Lundell et al.) were used to predict oxygen consumption in 200 acyanotic patients with congenital cardiac defects aged 0-2.0, > 2.0-4.0, > 4.0-6.0, and > 6.0-8.75 years (median 2.04 years). Significant differences were observed between the age groups (P < .001) and between the methods (P < .001), not related to diagnoses. Differences between methods were more impressive in the first age group (P < .01). In patients aged 0-2.0 years, the lowest values of oxygen consumption (corresponding to the highest estimates of pulmonary vascular resistance) were obtained with the method of Lindahl; above this age, any method except that of Lundell et al. Conclusions. Although measuring oxygen consumption is always preferable, a rational use of predictions, using different methods, may be of help in situations where measurements are definitely not possible.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS. Objective To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients. Patients and methods We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al. were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing. Results No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11. No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations. Conclusion Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS.

Insertion/deletion polymorphism of the angiotensin converting enzyme gene and loss of the insertion allele in aldosterone-producing adenoma

The genetic mechanisms responsible for the formation of adrenocortical adenomas which autonomously produce aldosterone are largely unknown, The adrenal renin-angiotensin system has been implicated in the pathophysiology of these tumours, Angiotensin-converting enzyme (ACE) catalyses the generation of angiotensin II, and the insertion/deletion (I/D) polymorphism of the ACE gene regulates up to 50% of plasma and cellular ACE variability in humans. We therefore examined the genotypic and allelic frequency distributions of the ACE gene I/D polymorphism in 55 patients with aldosterone-producing adenoma, APA, (angiotensin-unresponsive APA n = 28, angiotensin-responsive APA n = 27), and 80 control subjects with no family history of hypertension, We also compared the ACE gene I/D polymorphism allelic pattern in matched tumour and peripheral blood DNA in the 55 patients with APA, The frequency of the D allele was 0.518 and 0.512 and the I allele was 0.482 and 0.488 in the APA and control subjects respectively, Genotypic and allelic frequency analysis found no significant differences between the groups, Examination of the matched tumour and peripheral blood DNA samples revealed the loss of the insertion allele in four of the 25 patients who were heterozygous for the ACE I/D genotype. The I/D polymorphism of the ACE gene does not appear to contribute to the biochemical and phenotypic characteristics of APA, however, the deletion of the insertion allele of the ACE gene I/D polymorphism in 16% of aldosterone-producing adenomas may represent the loss of a tumour suppressor gene/s or other genes on chromosome 17q which may contribute to tumorigenesis in APA.

Cell-wall polysaccharides from Australian red algae of the family Solieriaceae (Gigartinales, Rhodophyta): Novel, highly pyruvated carrageenans from the genus Callophycus

Cell-wall polysaccharides from six species of red algae of the genus Callophycus were mainly galactans comprised predominantly of galactose (Gal) and 3,6-anhydrogalactose (AnGal), and were rich in pyruvate and sulfate. The Fourier Transform Infrared (FTIR) spectra of the polysaccharides superficially resembled that of alpha-carrageenan (composed of the repeating disaccharide carrabiose 2-sulfate), with major bands of absorption indicative of if-linked AnGal, axial 2-sulfate on 4-linked AnGal, and unsulfated, 3-linked Gal. The FTIR spectra of solutions of Callophycus polysaccharides in D2O-phosphate buffer displayed absorption, corresponding to the carboxylate anion of the pyruvate acetal substituent. Methylation analysis showed that 3,4,6-linked Galp (interpreted as 4,6-pyruvated, 3-linked Galp) and 2,4-linked AnGalp (interpreted as 4-linked AnGalp 2-sulfate) were the dominant links, together with significant quantities of 3-linked Galp. Proton-decoupled C-13 nuclear magnetic resonance (NMR) spectroscopy showed the polysaccharides to be composed predominantly of pyruvated carrageenans. The C-13 NMR spectra were completely assigned by a J-modulated spin-echo pulse sequence and 2D experiments employing gradient Heteronuclear Multiple Bond Correlation (HMBC), C-13/H-1 Heteronuclear Multiple Quantum Coherence (HMQC), and HMQC Total Correlation Spectroscopy (HMQC-TOCSY). The Callophycus galactans thus consist predominantly of the novel repeating disaccharide 4',6'-O-(1-carboxyethylidene)carrabiose 2-sulfate and minor amounts of the alpha-carrageenan repeating unit (carrabiose 2-sulfate), and other structural variations. (C) 1997 Elsevier Science Ltd.

Ten-Year Follow-Up Survival of the Medicine, Angioplasty, or Surgery Study (MASS II) A Randomized Controlled Clinical Trial of 3 Therapeutic Strategies for Multivessel Coronary Artery Disease

Background-This study compared the 10-year follow-up of percutaneous coronary intervention (PCI), coronary artery surgery (CABG), and medical treatment (MT) in patients with multivessel coronary artery disease, stable angina, and preserved ventricular function. Methods and Results-The primary end points were overall mortality, Q-wave myocardial infarction, or refractory angina that required revascularization. All data were analyzed according to the intention-to-treat principle. At a single institution, 611 patients were randomly assigned to CABG (n = 203), PCI (n = 205), or MT (n = 203). The 10-year survival rates were 74.9% with CABG, 75.1% with PCI, and 69% with MT (P = 0.089). The 10-year rates of myocardial infarction were 10.3% with CABG, 13.3% with PCI, and 20.7% with MT (P < 0.010). The 10-year rates of additional revascularizations were 7.4% with CABG, 41.9% with PCI, and 39.4% with MT (P < 0.001). Relative to the composite end point, Cox regression analysis showed a higher incidence of primary events in MT than in CABG (hazard ratio 2.35, 95% confidence interval 1.78 to 3.11) and in PCI than in CABG (hazard ratio 1.85, 95% confidence interval 1.39 to 2.47). Furthermore, 10-year rates of freedom from angina were 64% with CABG, 59% with PCI, and 43% with MT (P < 0.001). Conclusions-Compared with CABG, MT was associated with a significantly higher incidence of subsequent myocardial infarction, a higher rate of additional revascularization, a higher incidence of cardiac death, and consequently a 2.29-fold increased risk of combined events. PCI was associated with an increased need for further revascularization, a higher incidence of myocardial infarction, and a 1.46-fold increased risk of combined events compared with CABG. Additionally, CABG was better than MT at eliminating anginal symptoms.

A comparison of the symptomatic profile between two consecutive depressive episodes in patients with bipolar disorder type I

Objective: To compare the variability of patterns of depressive symptoms between two consecutive depressive episodes in patients with bipolar disorder type I. Methods: Review of prospectively collected data from 136 subjects of an out-patient bipolar unit from 1997 to 2007. Binomial statistics was used for the analysis of Hamilton Depression Rating Scale (HDRS)-31 items of the first and second episodes, and the correlation of the HDRS-31 item scores of both episodes was determined using the Spearman coefficient. Results: Ten depressive symptoms showed a significant correlation between index and subsequent episodes: psychological anxiety, somatic anxiety, somatic symptoms, diurnal variation, paranoid symptoms, obsessive and compulsive symptoms, hypersomnia, loss of appetite and helplessness. Only four symptoms were stable in both statistical tests: paranoid symptoms, obsessive-compulsive symptoms, loss of appetite and hypersomnia. Conclusions: Paranoid and obsessive-compulsive symptoms, loss of appetite and hypersomnia tended to be found in successive episodes. However, the moderate correlations of the symptoms across two depressive recurrences suggested that clinical presentations in bipolar depression may not be predicted by symptom profiles presented in previous episodes.

Transillumination-guided Study of the Endoscopic Anatomy of the Lacrimal Fossa

Dacryocystorhinostomy is the treatment of choice for the obstruction of the lachrymal apparatus. At the end of last century, the development of the endoscopic instruments for nasosinusal surgery has made it possible to do it through the endoscopic pathway. Nonetheless, anatomical variations make it difficult to have reproducibility endonasaly. Aim: study the endoscopic anatomy of the lachrymal fossa through transillumination of the common canaliculus. Study design: experimental. Materials and Methods: we dissected 40 lachrymal pathways from 20 human cadavers, in three stages: 1. identification and dilation of the lachrymal canaliculus. 2 Optic fiber beam introduction; 3 - endoscopic dissection of the lachrymal sac, describing its position. Results: the most frequent position of the lachrymal sac was between the free border of the middle turbinate and its insertion immediately underneath it. The maxillary line was seen in 95% of the cases. Septoplasty was needed in 12.5%, unicifectomy in 35% and middle turbinectomy in 7.5%. Conclusion: Although the lachrymal sac has a more frequent location, its position varied considerably. The transillumination of the common canaliculus proved useful, solving the problem of the anatomical variability.