A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

The reverse self-dual serial cost-sharing rule

In this study we define a cost sharing rule for cost sharing problems. This rule is related to the serial cost-sharing rule defined by Moulin and Shenker (1992). We give some formulas and axiomatic characterizations for the new rule. The axiomatic characterizations are related to some previous ones provided by Moulin and Shenker (1994) and Albizuri (2010).

Dual-path methods for propagating quantum microwaves

We study quantum state tomography, entanglement detection and channel noise reconstruction of propagating quantum microwaves via dual-path methods. The presented schemes make use of the following key elements: propagation channels, beam splitters, linear amplifiers and field quadrature detectors. Remarkably, our methods are tolerant to the ubiquitous noise added to the signals by phase-insensitive microwave amplifiers. Furthermore, we analyse our techniques with numerical examples and experimental data, and compare them with the scheme developed in Eichler et al (2011 Phys. Rev. Lett. 106 220503; 2011 Phys. Rev. Lett. 107 113601), based on a single path. Our methods provide key toolbox components that may pave the way towards quantum microwave teleportation and communication protocols.

Optimizar una producción II. Estudio y Comparación de un Problema de Programación lineal y su Dual. Resolución y Valoración de un caso práctico y su programación usando Excel y Win QSB.

En este trabajo se va a explicar la relación que existe entre la optimización de un problema lineal y el problema dual correspondiente. Se usara la herramienta Solver del Microsoft Excel para resolver los el problema de programación lineal planteado. Se analizaran los resultados obtenidos tanto del problema primal como del problema dual y se explicara el significado de los resultados obtenidos. Se finalizara con unas conclusiones donde se expondría lo aprendido durante este trabajo y el significado económico de este tipo de problemas.

Optimizar el personal. Estudio y Comparación de un Problema de Programación lineal y su Dual. Resolución y Valoración de un caso práctico y su programación usando Excel y Win QSB

OPTIMIZAR EL PERSONAL. Estudio y comparación de un problema de programación lineal y su dual. Resolución y valoración de un caso práctico y su programación usando Excel o Win QSB. (ESPAÑOL)

Frame-level features conveying phonetic information for language and speaker recognition

150 p.

Frame presentations: variants of the reals, rings of functions, their Dedekind completions, and the unit circle

176 p.

Distribution of Healthcare resources II.Study and Comparison of a Linear Programming Problem and its Dual. Resolution and Evaluation of a Practical Case and its Programming using Excel and Win QSB.

[EN]This research had as primary objective to model different types of problems using linear programming and apply different methods so as to find an adequate solution to them. To achieve this objective, a linear programming problem and its dual were studied and compared. For that, linear programming techniques were provided and an introduction of the duality theory was given, analyzing the dual problem and the duality theorems. Then, a general economic interpretation was given and different optimal dual variables like shadow prices were studied through the next practical case: An aesthetic surgery hospital wanted to organize its monthly waiting list of four types of surgeries to maximize its daily income. To solve this practical case, we modelled the linear programming problem following the relationships between the primal problem and its dual. Additionally, we solved the dual problem graphically, and then we found the optimal solution of the practical case posed through its dual, following the different theorems of the duality theory. Moreover, how Complementary Slackness can help to solve linear programming problems was studied. To facilitate the solution Solver application of Excel and Win QSB programme were used.