Atelosteogenesis Type 2

Disease characteristics. Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface hypoplasia, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia. Diagnosis/testing. The diagnosis of AO2 rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene currently known to be associated with AO2. The diagnosis can be confirmed by molecular genetic testing of SLC26A2, which is clinically available. Management. Treatment of manifestations: palliative care for liveborns. Genetic counseling. AO2 is inherited in an autosomal recessive manner. At conception, each sib of a proband with AO2 has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Prenatal diagnosis for pregnancies at 25% risk is possible. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if both disease-causing alleles in the family are known and the carrier status of the parents has been confirmed. Ultrasound examination early in pregnancy is a reasonable complement or alternative to molecular genetic prenatal diagnosis.

Institutional support of the firm: A theory of business registries

Registering originative business contracts allows entrepreneurs and creditors to choose, andcourts to enforce market-friendly contract rules that protect innocent third parties whenadjudicating disputes on subsequent contracts. This reduces information asymmetry for thirdparties, which enhances impersonal trade. It does so without seriously weakening property rights,because it is rightholders who choose or activate the legal rules and can, therefore, minimize thecost of any possible weakening. Registries are essential not only to make the chosen rules publicbut to ensure rightholders commitment and avoid rule-gaming, because independent registriesmake rightholders choices verifiable by courts. The theory is supported by comparative andhistorical analyses.

Comparative advantage and the cross-section of business cycles

Business cycles are both less volatile and more synchronized with the world cycle in rich countries than in poor ones. We develop two alternative explanations based on the idea that comparative advantage causes rich countries to specialize in industries that use new technologies operated by skilled workers, while poor countries specialize in industries that use traditional technologies operated by unskilled workers. Since new technologies are difficult to imitate, the industries of rich countries enjoy more market power and face more inelastic product demands than those of poor countries. Since skilled workers are less likely to exit employment as a result of changes in economic conditions, industries in rich countries face more inelastic labour supplies than those of poor countries. We show that either asymmetry in industry characteristics can generate cross-country differences in business cycles that resemble those we observe in the data.

Structural covariance of superficial white matter in mild Alzheimer's disease compared to normal aging.

INTRODUCTION: Interindividual variations in regional structural properties covary across the brain, thus forming networks that change as a result of aging and accompanying neurological conditions. The alterations of superficial white matter (SWM) in Alzheimer's disease (AD) are of special interest, since they follow the AD-specific pattern characterized by the strongest neurodegeneration of the medial temporal lobe and association cortices. METHODS: Here, we present an SWM network analysis in comparison with SWM topography based on the myelin content quantified with magnetization transfer ratio (MTR) for 39 areas in each hemisphere in 15 AD patients and 15 controls. The networks are represented by graphs, in which nodes correspond to the areas, and edges denote statistical associations between them. RESULTS: In both groups, the networks were characterized by asymmetrically distributed edges (predominantly in the left hemisphere). The AD-related differences were also leftward. The edges lost due to AD tended to connect nodes in the temporal lobe to other lobes or nodes within or between the latter lobes. The newly gained edges were mostly confined to the temporal and paralimbic regions, which manifest demyelination of SWM already in mild AD. CONCLUSION: This pattern suggests that the AD pathological process coordinates SWM demyelination in the temporal and paralimbic regions, but not elsewhere. A comparison of the MTR maps with MTR-based networks shows that although, in general, the changes in network architecture in AD recapitulate the topography of (de)myelination, some aspects of structural covariance (including the interhemispheric asymmetry of networks) have no immediate reflection in the myelination pattern.

Firms vs. insiders as traders of last resort

We explore the role of corporate insiders vs. firms as traders of last resort. We develop a simple model of insider trading in which insiders provide price support, as well as liquidity, in security markets. Consistent with the model predictions we find that in the US markets insiders trading activities have a clear impact on return distributions. Furthermore, we provide empirical evidence on insiders transactions and firm transactions affecting returns in a different manner. In particular, while insiders transactions (both purchases and sales) have a strong impact on skewness in the short run and to a lesser extent in short run volatility, company repurchases only have a clear impact on volatility, both in the short and the long run. We provide explanations for this asymmetry.

Are larger and/or more symmetrical Drosophila melanogaster (Diptera, Drosophilidae) males more successful in matings in nature?

Are larger and/or more symmetrical Drosophila melanogaster (Diptera, Drosophilidae) males more successful in matings in nature? Sexual selection in Drosophila melanogaster, related to body size and fluctuating asymmetry in wing length and number of sex comb teeth in males, was tested in natural conditions. Males collected in copula were significantly larger than those collected as a single, while no difference in mean number of sex comb teeth between copulating and single males was observed. On the other hand, single males had greater asymmetry both for wing length and number of sex comb teeth than their mating counterparts. It looks like that symmetry of these bilateral traits also may play a role in sexual selection in this dipteran species in nature.

Risk dominance selects the leader. An experimental analysis

Coordination games arise very often in studies of industrial organization and international trade. This type of games has multiple strict equilibria, and therefore the identification of testable predictions isvery difficult. We study a vertical product differentiation model with two asymmetric players choosing first qualities and then prices. This game has two equilibria for some parameter values. However, we apply the risk dominance criterion suggested by Harsanyi and Selten and show that it always selects the equilibrium where the leader is the firm having some initial advantage. We then perform an experimental analysis totest whether the risk dominance prediction is supported by the behaviour oflaboratory agents. We show that the probability that the risk dominance prediction is right depends crucially on the degree of asymmetry of the game. The stronger the asymmetries the higher the predictive power of the risk dominance criterion.

Optimal law enforcement under asymmetric information

In this paper, we focus on the problem created by asymmetric informationabout the enforcer's (agent's) costs associated to enforcement expenditure. This adverse selection problem affects optimal law enforcement because a low cost enforcer may conceal its information by imitating a high cost enforcer, and must then be given a compensation to be induced to reveal its true costs. The government faces a trade-off between minimizing the enforcer's compensation and maximizing the net surplus of harmful acts. As a consequence, the probability of apprehension and punishment is usually reduced leading to more offenses being committed. We show that asymmetry of information does not affect law enforcement as long as raising public funds is costless. The consideration of costly raising of public funds permits to establish the positive correlation between asymmetry of information between government and enforcers andthe crime rate.

Register of a gynandromorph of Euglossa pleosticta Dressler (Hymenoptera, Apidae)

Register of a gynandromorph of Euglossa pleosticta (Hymenoptera, Apidae). Here we provide a description of a gynandromorph of Euglossa pleosticta with partial bilateral phenotypic asymmetry. The specimen was collected by cineol baittrap at Parque Estadual São Camilo, a conservation unit in western Paraná. The bee has mostly a female phenotype, except by the right half of its head, including the presence of 11 flagellomeres, ivory markings on scape and parocular area, by the pilosity of the right galea, and by deformed male characteristics on mid and hind tibiae of right legs.

Outcome and patterns of failure in testicular lymphoma: a multicenter Rare Cancer Network study.

PURPOSE: To assess the outcome and patterns of failure in patients with testicular lymphoma treated by chemotherapy (CT) and/or radiation therapy (RT). METHODS AND MATERIALS: Data from a series of 36 adult patients with Ann Arbor Stage I (n = 21), II (n = 9), III (n = 3), or IV (n = 3) primary testicular lymphoma, consecutively treated between 1980 and 1999, were collected in a retrospective multicenter study by the Rare Cancer Network. Median age was 64 years (range: 21-91 years). Full staging workup (chest X-ray, testicular ultrasound, abdominal ultrasound, and/or thoracoabdominal computer tomography, bone marrow assessment, full blood count, lactate dehydrogenase, and cerebrospinal fluid evaluation) was completed in 18 (50%) patients. All but one patient underwent orchidectomy, and spermatic cord infiltration was found in 9 patients. Most patients (n = 29) had CT, consisting in most cases of cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP) with (n = 17) or without intrathecal CT. External RT was delivered to scrotum alone (n = 12) or testicular, iliac, and para-aortic regions (n = 8). The median RT dose was 31 Gy (range: 20-44 Gy) in a median of 17 fractions (10-24), using a median of 1.8 Gy (range: 1.5-2.5 Gy) per fraction. The median follow-up period was 42 months (range: 6-138 months). RESULTS: After a median period of 11 months (range: 1-76 months), 14 patients presented lymphoma progression, mostly in the central nervous system (CNS) (n = 8). Among the 17 patients who received intrathecal CT, 4 had a CNS relapse (p = NS). No testicular, iliac, or para-aortic relapse was observed in patients receiving RT to these regions. The 5-year overall, lymphoma-specific, and disease-free survival was 47%, 66%, and 43%, respectively. In univariate analyses, statistically significant factors favorably influencing the outcome were early-stage and combined modality treatment. Neither RT technique nor total dose influenced the outcome. Multivariate analysis revealed that the most favorable independent factors predicting the outcome were younger age, early-stage disease, and combined modality treatment. CONCLUSIONS: In this multicenter retrospective study, CNS was found to be the principal site of relapse, and no extra-CNS lymphoma progression was observed in the irradiated volumes. More effective CNS prophylaxis, including combined modalities, should be prospectively explored in this uncommon site of extranodal lymphoma.

Video-assisted right supradiaphragmatic thoracic duct ligation for non traumatic recurrent chylothorax

Introduction : Un chylothorax est une pathologie comprenant des manifestations respiratoires, nutritionnelles et immunologiques. La récidive du chylothorax ou l'échec du traitement conservateur imposent un traitement chirurgical. Ce travail rapporte notre expérience de ligature supra-diaphragmatique, vidéo-assistée du canal thoracique, pour chylothorax récurrent non traumatique. Patients et méthodes : Entre 1999 et 2004, nous avons recensé six observations (quatre du côté droit, un du côté gauche et un bilateral) Le chylothorax s'est développé chez trois patients traités par radio et chimiothérapie pour tumeur (deux lymphomes et une tumeur du sein) un dans le contexte d'une lymphangioléiomatose et un après greffe cardiaque. Résultats : Les patients ont bénéficié sous anesthésie générale, d'une ligature du canal thoracique supra-diaphragmatique, vidéo-assistée. Le temps opératoire moyen a été de 102 minutes. Le chylothorax a régressé chez cinq des six patients en sept jours. Un patient a été repris par thoracotomie droite au huitième jour pour chylothorax persistant. Dans la phase post-opératoire, un patient a développé une détresse respiratoire nécessitant une ventilation mécanique. Un autre patient a présenté un chylopéritoine important traité par un stent de Le Veen®. Le séjour moyen a été de quatorze jours sans mortalité péri-opératoire. Conclusion : Le traitement du chylothorax non traumatique récurrent est, en première intention, un traitement médical. En cas de récidive ou d'échec du traitement conservateur, le traitement chirurgical par ligature du canal thoracique supra- diaphragmatique, vidéo-assistée, permet de traiter avec succès le chylothorax récurrent non traumatique. -- Background: Chylothorax is an uncommon disorder with respiratory, nutritional and immunological manifestations. Surgical management is indicated in case of recurrence or failure after conservative treatment. We report our experience with video-assisted right-sided supradiaphrag¬matic thoracic duct ligation for non-traumatic, non-postoperative persistent or recurrent chylothorax. Patients and methods: The medical records of six patients operated at our institution between 1999 and 2004 were retrospectively reviewed. A right-sided chylothorax was found in four patients, a left-sided in one, and a bilateral in one. Three patients developed chylothorax after chemotherapy and chest irradiation for malignant diseases (lymphoma in two patients and breast cancer in one), one in the context of lymphangioleiomyomatosis, one due to a non-diagnosed lymphoma, and one after heart transplantation. Results: The mean operative time was 102 min, with an average length of hospital stay of 14 days. Persistent cessation of chylous effusion within 7 days after surgery was observed in 5/6 patients without recurrence during a mean follow-up time of 41 months. One patient with undiagnosed mediastinal lymphoma required re-operation and thoracic duct ligation on day 8 by right-sided thoracotomy due to persistent chylothorax. No 30-day mortality was recorded. Two patients presented postoperative complications including respiratory insufficiency requiring mechanical ventilation in one, and chylous ascites development requiring peritoneo-venous LeVeen shunting in one patient. Conclusions: Recurrent or persistent non-traumatic chylothorax may be successfully treated by video-assisted right supradiaphragmatic thoracic duct ligation.

Effects of the playing surface on plantar pressures during the first serve in tennis.

PURPOSE: This study aimed at examining the influence of different playing surfaces on in-shoe loading patterns in each foot (back and front) separately during the first serve in tennis. METHODS: Ten competitive tennis players completed randomly five first (ie, flat) serves on two different playing surfaces: clay vs GreenSet. Maximum and mean force, peak and mean pressure, mean area, contact area and relative load were recorded by Pedar insoles divided into 9 areas for analysis. RESULTS: Mean pressure was significantly lower (123 ± 30 vs 98 ± 26 kPa; -18.5%; P < .05) on clay than on GreenSet when examining the entire back foot. GreenSet induced higher mean pressures under the medial forefoot, lateral forefoot and hallux of the back foot (+9.9%, +3.5% and +15.9%, respectively; both P < .01) in conjunction with a trend toward higher maximal forces in the back hallux (+15.1%, P = .08). Peak pressures recorded under the central and lateral forefoot (+21.8% and +25.1%; P < .05) of the front foot but also the mean area values measured on the back medial and lateral midfoot were higher (P < .05) on clay. No significant interaction between foot region and playing surface on relative load was found. CONCLUSIONS: It is suggested that in-shoe loading parameters characterizing the first serve in tennis are adjusted according to the ground type surface. A lesser asymmetry in peak (P < .01) and mean (P < .001) pressures between the two feet was found on clay, suggesting a greater need for stability on this surface.

Pupillographic investigation of the relative afferent pupillary defect associated with a midbrain lesion.

OBJECTIVE: To identify clinical and pupillographic features of patients with a relative afferent pupillary defect (RAPD) without visual acuity or visual field loss caused by a lesion in the dorsal midbrain. DESIGN: Experimental study. PARTICIPANTS AND CONTROLS: Four patients with a dorsal midbrain lesion who had normal visual fields and a clinically detectable RAPD. METHODS: The pupil response from full-field and hemifield light stimulation over a range of light intensities was measured by computerized binocular pupillography. MAIN OUTCOME MEASURES: The mean of the direct and consensual pupil response to full-field and hemifield light stimulation was plotted as a function of stimulus light intensity. RESULTS: All 4 subjects showed decreased pupillographic responses at all intensities to full-field light stimulation in the eye with the clinical RAPD. The pupillographic responses to hemifield stimulation showed a homonymous pattern of deficit on the side ipsilateral to the RAPD, similar to that observed in a previously reported patient with an optic tract lesion. CONCLUSIONS: The basis of a midbrain RAPD is the nasal-temporal asymmetry of pupillomotor input that becomes manifest when a unilateral postchiasmal lesion interrupts homonymously paired fibers traveling in the contralateral optic tract or midbrain pathway to the pupillomotor center, respectively. The pupillographic characteristics of an RAPD resulting from a dorsal midbrain lesion thus resemble those of an RAPD resulting from a unilateral optic tract lesion, but without the homonymous visual field defect. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

La zonación estructural del hercínico del Pirineo Central en el anticlinorio de la Pallaresa

The Pyrenees are an alpine chain with hercynian basement rocks that outcrop in a large area called the Axial Zone. These rocks have been involved in the alpine deformation events although their main structural features resulted from the Hercynian orogeny. A relevant characteristic of the Hercynian basement is a change in structural style in depth which has been commonly studied and interpreted in the Pallaresa Anticlinorium, in the Central Pyrenees. This anticlinorium is a complex hercynian structural unit whose southern part belongs to the suprastructure whereas the northern part corresponds mostly to a transition zone between the infrastructure and the suprastructure. Rocks of the suprastructure show a steeply dipping slaty cleavage as the dominant structure, which is overprinting folds and thrusts rarely going with pervasive deformation. The transition zone results from a slaty cleavage, very often close to the bedding, overprinted by one or two steep crenulation cleavages. A gradual boundary exists between both structural levels and it can be observed that the deformation developing slaty cleavage in the suprastructure grades to a crenulation foliation in the transition zone. The gradual character of that boundary, as seen in the northern end of the transition zone, suggests that the southern sharp boundary is not original. That boundary is interpreted as a northward dipping inverse fault, possibly with Alpine age. That fault causes a relative uplift of the rocks of the transition zone and gives this sharp boundary with the suprastructural levels. It provokes the asymmetry in the Pallaresa anticlinorium

Undocumented migrants in Switzerland: geographical origin versus legal status as risk factor for tuberculosis.

Undocumented migrants, meaning migrants without a legal residency permit, come to Geneva from countries with high tuberculosis (TB) incidence. We estimate here whether being undocumented is a determinant of TB, independently of origin. Cross-sectional study including undocumented migrants in a TB screening program in 2002; results were compared to 12,904 age and frequency matched participants in a general TB screening program conducted at various workplaces in Geneva, Switzerland from 1992 to 2002. A total of 206 undocumented migrants (36% male, 64% female, mean age 37.8 years (SD 11.8), 82.5% from Latin America) participated in the TB screening program. Compared to legal residents, undocumented migrants had an adjusted OR for TB-related fibrotic signs of 1.7 (95% CI 0.8;3.7). The OR of TB-related fibrotic signs for Latin American (vs. other) origin was 2.7 (95% CI 1.6;4.7) among legal residents and 5.5 (95% CI 2.8;10.8) among undocumented migrants. Chest X-ray screening identified a higher proportion of TB-related fibrotic signs among Latin Americans, independently of their residency status.