Miracle-dz/UniFAR-FTUs huggingface dataset:
A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

A de novo GJB2 (Connexin 26) Mutation, R75W, in a Chinese Pedigree With Hearing Loss and Palmoplantar Keratoderma Yongyi Yuan, Deliang Huang, Fei Yu, Xiuhui Zhu, Dongyang Kang, Huijun Yuan, Dongyi Han, and Pu Dai* Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic of China Department of Otolaryngology, Chifeng Second Hospital, Chifeng City (Inner Mongolia), People’s Republic of China
Local reactive robot navigation: A comparison between reciprocal velocity obstacle variants and human-like behavior

Most local robot navigation algorithms are based on the concept of velocity obstacle, a mechanistic approach to the navigation problem in which a solution is engineered from scratch. Over the years, a number of different velocity obstacle variants have been developed to effectively handle multi-robot systems. In parallel, an alternative, human-inspired approach for robot navigation has been recently proposed, which derives from the observation and modeling of crowds of pedestrians. We discuss similarities and differences among two broadly used obstacle-velocity variants, namely Hybrid Reciprocal Velocity Obstacle and Optimal Reciprocal Collision Avoidance, and the human-inspired approach. How do these differences (which are often subtle) impact performance, and why? We answer these questions through extensive simulation experiments, wherein we evaluate the the algorithms for safety, trajectory efficiency, and emergence of collective behaviors, in different challenging multi-robot scenarios using both ideal and realistic models for robots and sensing.
ORDPATHs: insert-friendly XML node labels

We introduce a hierarchical labeling scheme called ORDPATH that is implemented in the upcoming version of Microsoft® SQL Server™. ORDPATH labels nodes of an XML tree without requiring a schema (the most general case---a schema simplifies the problem). An example of an ORDPATH value display format is "1.5. 3.9. 1". A compressed binary representation of ORDPATH provides document order by simple byte-by-byte comparison and ancestry relationship equally simply. In addition, the ORDPATH scheme supports insertion of new nodes at arbitrary positions in the XML tree, their ORDPATH values "careted in" between ORDPATHs of sibling nodes, without relabeling any old nodes.
Metabolic Vulnerability in the Neurodegenerative Disease Glaucoma

Axons can be several orders of magnitude longer than neural somas, presenting logistical difficulties in cargo trafficking and structural maintenance. Keeping the axon compartment well supplied with energy also presents a considerable challenge; even seemingly subtle modifications of metabolism can result in functional deficits and degeneration. Axons require a great deal of energy, up to 70% of all energy used by a neuron, just to maintain the resting membrane potential. Axonal energy, in the form of ATP, is generated primarily through oxidative phosphorylation in the mitochondria. In addition, glial cells contribute metabolic intermediates to axons at moments of high activity or according to need. Recent evidence suggests energy disruption is an early contributor to pathology in a wide variety of neurodegenerative disorders characterized by axonopathy. However, the degree to which the energy disruption is intrinsic to the axon vs. associated glia is not clear. This paper will review the role of energy availability and utilization in axon degeneration in glaucoma, a chronic axonopathy of the retinal projection.
Surgical treatment of pleural empyema according to disease stage.

UNLABELLED Para pneumonic effusions are often complications of bacterial pneumonia, occurring in 5-50% patients and in 15% cases it can progress into pleural empyema. Pleural empyema treatment includes drainage of pus, re-expansion of lung by using appropriate antibiotics. Surgical treatment covers implementation of certain thoracic drainage modifications, use of VATS techniques and thoracotomy with pleura decortications. PATIENTS Research has involved 100 patients with diagnosis and treatment of para pneumonic and meta pneumonic pleural empyema. RESULTS Based on previously defined phase of pleural empyema it was determined which surgical procedures have been used in definitive treatment of pleural empyema. In case of 31,17% (24/77) patients it has been found that pre-clinical treatment lasted 31 days and longer, and 49,35% (38/77) patients have been admitted at Clinic after 11 to 30 days of pre-clinic treatment. Only in 19.48% (15/77) patients pre-clinic treatment lasted up to 10 days. 79% (79/100) patients were in third phase of disease, 19% (19/100) patients were in second phase and 2% (2/100) patients were in first stage of disease. Among patients with first stage of disease 1 patient was subject to pleural drainage and 1 was subject to decortications. Among patients with second phase of disease 10 patients were subject to pleural drainage and 9 to decortications. Among patients with third phase of disease 20 patients were subject to pleural drainage and 49 to decortications, 4 patients were subject to pleural drainage with rib resection, and 2 were subject to combination of thoracoscopy and drainage, while in case of 4 patients it was necessary to perform additional drainage. CONCLUSIONS Pleural drainage is first procedure in surgical treatment of pleural empyema, but very often it is not definitive measure of treatment of patients with third phase of disease. Definitive treatment of empyema in third phase is decortications of pleura carried out on 62% patients with this phase of disease. Efficiency of treatment determined on basis of mortality level is satisfactory.
Leveraging unscheduled event prediction through mining scheduled event tweets

A considerable portion of social media messages is devoted to current events. Aside from references to events that recently happened, social media messages may also refer to events that have not occurred yet. Future events, such as football matches in the case study we present here, may be scheduled and known to happen; other future events, such as transfers of football players, may only be rumoured, and may in fact not happen in the end. We describe a news mining component that learns to identify tweets referring to scheduled and unscheduled future events, by being trained on messages referring to scheduled future events (as the latter are easy to harvest). Our results show that discriminating between tweets that refer to upcoming football matches and tweets that refer to past matches can be done relatively reliably with supervised machine learning methods. However, when these trained models are applied to unscheduled events, performance drops to near-baseline performance. We discuss how these results can be explained by the distinction between event type and event domain.
Joint subcarrier assignment and power allocation for D2D communication underlaying full-duplex cellular networks

The paper investigates the resource allocation problem for Device-to-device (D2D) communication underlaying full-duplex cellular networks, where D2D links, cellular uplinks and cellular downlinks reusing the cellular resources results in a new complicated interference relationship among the communication links. In order to optimize the network performance, we propose a new resource allocation scheme against the interference relationship by jointly optimizing subcarrier assignment and power allocation. Firstly, we put forward the new subcarrier assignment algorithm based on the greedy algorithm and the interference-limited-area (ILA) algorithm, then a price-based power allocation model is proposed using Stackelberg game. In the proposed Stackelberg game, the full-duplex BS is leaders, both cellular users and D2D users are the followers. We formulate the utility maximization problems of the leader and followers as optimization problems. We prove that sub-games are all convex problems and obtain the Stackelberg equilibrium of the game. Finally, the simulation results demonstrate the network performance can be effectively improved through our proposed resource allocation scheme.
Economic implications of superstition and the defacement of the currency notes: Nigeria experience

Nearly half the currency notes in circulation in Nigeria today has lost its wholeness to one form of mutilation or another due to superstitious beliefs. Statistics have shown that 98.0% of the disfigurement of the naira is (deliberately) caused by superstitious belief, while only 0.2% is due to inadvertent mistakes. This paper examines the correlation between superstitious beliefs, magical thinking and judgements or choices regarding currency notes exchange among Nigerian. Drawing upon an extensive contemporary research and existing literature on the culture of superstition, and supported with qualitative methodology, this paper scrutinises the role of superstitious beliefs on our decisions, preference, and actions that affects the use, exchange and mutilation of currency notes with its resultant fiscal connotation. The result shows that majority of the mutilation is deliberately carried out due to superstitious beliefs which exerts a causal influence on people and a serious economic implications on the society.
Renin-Aldosterone Paradox and Perturbed Blood Volume Regulation Underlying Postural Tachycardia Syndrome

Background—Patients with postural tachycardia syndrome (POTS) experience considerable disability, but in most, the pathophysiology remains obscure. Plasma volume disturbances have been implicated in some patients. We prospectively tested the hypothesis that patients with POTS are hypovolemic compared with healthy controls and explored the role of plasma renin activity and aldosterone in the regulation of plasma volume. Methods and Results—Patients with POTS (n=15) and healthy controls (n=14) underwent investigation. Heart rate (HR), blood pressure (BP), plasma renin activity, and aldosterone were measured with patients both supine and upright. Blood volumes were measured with 131I-labeled albumin and hematocrit. Patients with POTS had a higher orthostatic increase in HR than controls (51±18 versus 16±10 bpm, P<0.001). Patients with POTS had a greater deficit in plasma volume (334±187 versus 10±250 mL, P<0.001), red blood cell volume (356±128 versus 218±140 mL, P=0.010), and total blood volume (689±270 versus 228±353 mL, P<0.001) than controls. Despite the lower plasma volume in patients with POTS, there was not a compensatory increase in plasma renin activity (0.79±0.58 versus 0.79±0.74 ng · mL−1 · h−1, P=0.996). There was a paradoxically low level of aldosterone in the patients with POTS (190±140 pmol/L versus 380±230 pmol/L; P=0.017). Conclusions—Patients with POTS have paradoxically unchanged plasma renin activity and low aldosterone given their marked reduction in plasma volume. These patients also have a significant red blood cell volume deficit, which is regulated by the renal hormone erythropoietin. These abnormalities suggest that the kidney may play a key role in the pathophysiology of POTS.
Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects

The subtilisin-like proprotein convertases PC1/3 (SPC3) and PC2 (SPC2) are believed to be the major endoproteolytic processing enzymes of the regulated secretory pathway. They are expressed together or separately in neuroendocrine cells throughout the brain and dispersed endocrine system in both vertebrates and invertebrates. Disruption of the gene-encoding mouse PC1/3 has now been accomplished and results in a syndrome of severe postnatal growth impairment and multiple defects in processing many hormone precursors, including hypothalamic growth hormone-releasing hormone (GHRH), pituitary proopiomelanocortin to adrenocorticotropic hormone, islet proinsulin to insulin and intestinal proglucagon to glucagon-like peptide-1 and -2. Mice lacking PC1/3 are normal at birth, but fail to grow normally and are about 60% of normal size at 10 weeks. They lack mature GHRH, have low pituitary growth hormone (GH) and hepatic insulin-like growth factor-1 mRNA levels and resemble phenotypically the “little” mouse (Gaylinn, B. D., Dealmeida, V. I., Lyons, C. E., Jr., Wu, K. C., Mayo, K. E. & Thorner, M. O. (1999) Endocrinology 140, 5066–5074) that has a mutant GHRH receptor. Despite a severe defect in pituitary proopiomelanocortin processing to mature adrenocorticotropic hormone, blood corticosterone levels are essentially normal. There is marked hyperproinsulinemia but without impairment of glucose tolerance. In contrast, PC2-null mice lack mature glucagon and are chronically hypoglycemic (Furuta, M., Yano, H., Zhou, A., Rouille, Y., Holst, J., Carroll, R., Ravazzola, M., Orci, L., Furuta, H. & Steiner, D. (1997) Proc. Natl. Acad. Sci. USA 94, 6646–6651). The PC1/3-null mice differ from a human subject reported with compound heterozygosity for defects in this gene, who was of normal stature but markedly obese from early life. The PC1/3-null mice are not obese. The basis for these phenotypic differences is an interesting topic for further study. These findings prove the importance of PC1/3 as a key neuroendocrine convertase.
Vertebrobasilar artery junction aneurysm associated with fenestration.

MD, Resident, Honorio Delgado Hospital Universidad Nacional de San Augustin, Orequipa, Peru; MD, PHD, Supervisor, Head of Cerebrovacular Surgery, Division of Neurological Surgery University of Sao Paulo School of Medicine, Sao Paulo SP, Brazil; MD, Resident, Division of Neurological Surgery University of Sao Paulo School of Medicine, Sao Paulo SP, Brazil; MD, PHD, Chairman and Director, Division of Neurological Surgery University of Sao Paulo School of Medicine, Sao Paulo SP, Brazil. Fenestration of an intracranial artery is a rare occurrence. After the vertebral artery, the basilar artery is the second most frequent site of fenestration of intracranial arteries. Alike arterial bifurcations, fenestrations resulting from developmental anomalies have a tendency to develop aneurysms. Fenestration of the proximal basilar artery aneurysms located at the vertebrobasilar junction may be associated with aneurysms. Aneurysms arising from the posterior circulation are estimated to be less than 15% of all intracranial aneurysms. The morbidity and mortality of open surgery for posterior circulation aneurysms are higher than those of the anterior circulation. Endovascular treatment of vertebrobasilar junction aneurysms with Guglielmi Detachable Coils (GDC) can provide an alternative method of treatment. We present a fenestration of vertebral artery associated with intracranial aneurysm and discuss its pathogenesis and management.
Adaptation of consensus penalty terms for attitude synchronization of spacecraft formation with unknown parameters

The main concern of this work is on the temporal adjustment of the consensus weights, as applied to spacecraft formation control. Such an objective is attained by dynamically enforcing attitude synchronization via coupling terms included in each spacecraft controller. It is assumed that each spacecraft has identical dynamics but with unknown inertia parameters and external disturbances. By augmenting a standard adaptive controller that accounts for the unknown parameters, made feasible via an assumption on parametrization, with adaptation of the consensus weights, one opts to improve spacecraft synchronization. The coupling terms, responsible for enforcing synchronization amongst spacecraft, are weighted dynamically in proportion to the disagreement between the states of the spacecraft. The time adjustment of edge-dependent gains as well as the special cases of node-dependent and agent-independent constant gains are derived using Lyapunov redesign methods. The proposed adaptive control architecture which allows for adaptation of both parameter uncertainties and consensus penalty terms is demonstrated via extensive numerical studies of a four-spacecraft network with limited connectivity. By considering the sum of deviation-from-the-mean and rotational kinetic energy as appropriate metric for synchronization, the numerical studies also provide insights on the choice of optimal edge-dependent consensus gains.
Transnational lifestyles as a new form of cosmopolitan social identification? Latin American women in German urban spaces

Abstract Joining a religious sect, the sex industry or the art field can open transnational opportunities for women to participate actively in different social and cultural domains. This article is based on a qualitative study of migration, gender and identity among Latin American women in Berlin. Drawing from a transnational practices perspective, I refer to lifestyles that serve to develop cosmopolitan skills and competencies such women develop by relying on multiple identifications. These competencies facilitate their ability to find recognition as well as express a sense of belonging that extends beyond the ethnic categorizations deployed within hegemonic discourses. The women presented here identified themselves within lifestyles that helped them to develop cosmopolitan sociabilities as alternative representations of themselves. Looking at forms of cosmopolitan identification, this paper focuses on individual agency as these women contested, resisted or empowered themselves against racialized and ethnicized global hierarchies of power.
Luck, envy and gratitude: It could have been different

Previous studies have shown that people feel lucky in situations that could easily have turned into something worse. The present investigation was designed to focus more closely on the comparative aspect of luck, using a linguistic approach (Study 1 and 2) as well as self-reports of perceived luck accompanying selected emotional episodes (Study 3). The participants in Study 1 were asked to comment upon the difference between describing a state of affairs as “lucky” vs. “good”. The term “lucky“ was frequently seen to imply a comparison process, sometimes expressing gratitude (“It is lucky I have a family”) and at other times envy (“it is lucky you have a job”). This was confirmed in Study 2 where statements about self and other being lucky or unlucky were rated for implying comparison, gratitude, envy, concern, and impression of speaker. In Study 3, 60 students described situations in which they had felt grateful towards other people as well as towards “life in general”. Questionnaire answers revealed that they also had felt very lucky and had been thinking “it could have been different”. They also produced recollections of envy, which were rated to imply others' good luck and own bad luck, which could easily have been interchanged (“it could have been merdquo;). It is concluded that counterfactual thoughts are decisive for the experiences of luck, gratitude, and envy.
Surgical Management of Medium to Large Size Pulmonary AV Malformations- A Case Series

The communication between pulmonary artery and pulmonary vein or between a bronchial artery and the pulmonary vein is called as pulmonary arterio-venous malformation. Dyspnea on exertion, fatigue, nasal bleeding, bluish discoloration of lips and nail beds and hemoptysis are common presenting complaints. In childhood only 10% of cases are identified. Cerebral vascular accidents, brain abscess, hemothorax, life threatening hemoptysis are the complications of large pulmonary arteriovenous malformation. We present you a series of three cases that were diagnosed to have pulmonary AV malformations and presented to us with various clinical pictures. All three patients were surgically managed and discharged uneventfully.
The Impact of Literacy Coaches on Teachers’ Beliefs and Practices

The field of literacy education has long been concerned with the question of how to help classroom teachers improve their practices so that students will improve as readers. Although there is consensus on what characterizes effective professional development, the reading research on which this consensus is based most often is small scale and involves direct support provided by university faculty. The South Carolina Reading Initiative is an exception: It is a statewide, site-based, large-scale staff development effort led by site-selected literacy coaches. Although university faculty provide long-term staff development to the coaches, the faculty are not directly involved with the professional development provided to teachers. In this study we sought to understand whether site-based, site-chosen literacy coaches could help teachers’ beliefs and practices become more consistent with what the field considers to be best practices. To understand teacher change, we used two surveys (Theoretical Orientation to Reading Profile, n = 817; South Carolina Reading Profile, n = 1,005) and case study research (n = 39) to document teachers’ beliefs and practices. We also had access to a state department survey (n = 1,428). Across these data, we found that teachers’ beliefs and practices became increasingly consistent with best practices as defined by standards set by the South Carolina State Department of Education, standards that were consistent with national standards. This suggests that large-scale staff development can affect teachers when the providers are site-based, site-selected literacy coaches.
Music Enhances Autobiographical Memory in Mild Alzheimer's Disease

Studies have shown that the Four Seasons music may enhance the autobiographical performance of Alzheimer's disease (AD) patients. We used a repeated measures design in which autobiographical recall of 12 mild AD patients was assessed using a free narrative method under three conditions: (a) in “Silence,” (b) after being exposed to the opus Four Seasons, and (c) after being exposed to their own Chosen music. Recall was higher in the Chosen than in the Four Seasons conditions, and both were higher than in Silence. Autobiographical improvement was also characterized by an enhancement of positive emotional words. The findings suggest that music enhances autobiographical recall by promoting positive emotional memories.
Tablet, gestures, remote control?: influence of age on performance and user experience with iTV applications

Due to recent development of TVs in the direction of highly interactive multimedia platforms, interactive TV (iTV) applications gain popularity. In terms of control possibilities a variety of input modalities have become available, though effects on performance and user experience of different age groups when controlling different iTV applications remain unclear. We present an empirical investigation comparing three input modalities (tablet, freehand gestures, remote) for controlling two iTV applications (Photo Browser, Nutrition Tracker) used by older and younger adults. Results show that all three independent variables had significant influence on performance, while we did not find influence of age or application on user experience. Overall tablet input based on a mirrored TV screen showed the best performance and was preferred by both age groups. Older adults were overall slower and showed a particularly large performance gap with the remote in comparison to younger adults.