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.

Short communication: Rapid separation of cis9, trans11- and trans7,cis9-18:2 (CLA) isomers from ruminant tissue using a 30 m SLB-IL111 ionic column

[EN]Rumenic acid (cis9,trans11-18:2) is the main natural isomer of conjugated linoleic acid (CLA). Rumenic acid has many purported health benefits, but effects of most other CLA isomers are unknown. Typically trans7,cis9-18:2 is the second most abundant CLA isomer, but it co-elutes with rumenic acid on conventional polar gas chromatography (GC) columns, requiring complimentary analysis with silver-ion high performance liquid chromatography (Ag(+)-HPLC). Herein we report a rapid method for analyzing rumenic acid and trans7,cis9-18:2 using a 30 m ionic-liquid GC column. Optimal resolution of the two CLA isomers was at 145 degrees C and analysis of backfat from barley-fed cattle compared well with GC/Ag(+)-HPLC (y =0.978x - 0.031, r =0.985, P <0.001).

The study of film adaptation: a state of the art and some "new" functional proposals

Eguíluz, Federico; Merino, Raquel; Olsen, Vickie; Pajares, Eterio; Santamaría, José Miguel (eds.)

A Passage to India: from novel to film. Some problems of "translation"

Eguíluz, Federico; Merino, Raquel; Olsen, Vickie; Pajares, Eterio; Santamaría, José Miguel (eds.)

The Handmaid's tale, Margaret Atwood's novel and Volker Schlöndorff's film

Eguíluz, Federico; Merino, Raquel; Olsen, Vickie; Pajares, Eterio; Santamaría, José Miguel (eds.)

On Mice and Men and De ratones y hombres: Cultural transfer of substandars characters from literary discourse to film discourse

Eguíluz, Federico; Merino, Raquel; Olsen, Vickie; Pajares, Eterio; Santamaría, José Miguel (eds.)

Schindler's List: from fact to fiction, from fiction into film. (A case of consecutive translation)

Santamaría, José Miguel; Pajares, Eterio; Olsen, Vickie; Merino, Raquel; Eguíluz, Federico (eds.)

"Empty bed blues": Terry McMillan's Waiting to Exhale (1992), novel into film

Santamaría, José Miguel; Pajares, Eterio; Olsen, Vickie; Merino, Raquel; Eguíluz, Federico (eds.)

¡Átame! significa "Te quiero". Media-mediated genderlect and film translation

Santamaría, José Miguel; Pajares, Eterio; Olsen, Vickie; Merino, Raquel; Eguíluz, Federico (eds.)

Cross-cultural communication in film translation a study of the english subtitled and dubbed versions of "Le déclin de l' Empire américain"

Santamaría, José Miguel; Pajares, Eterio; Olsen, Vickie; Merino, Raquel; Eguíluz, Federico (eds.)

Incorporating American Dreams into Australian Stories: Political Erasure and cultural transference in film adaptations of Australian Literary Classics

Eterio Pajares, Raquel Merino y José Miguel Santamaría (eds.)

Irony in Popular Fiction: Raymond Chandler's The Big Sleep in film and in translation

Eterio Pajares, Raquel Merino y José Miguel Santamaría (eds.)

Dramatické texty přeložené a cenzurované ve frankistickém Španělsku (šedesátá léta): divadlo a film jako kontrolovaná představení

Texto en checo. Editora de la obra Petra Vavroušová.

A short training program improves the accuracy of portion-size estimates in future dietitians

[EN] The objective of this study was to determine whether a short training program, using real foods, would decreased their portion-size estimation errors after training. 90 student volunteers (20.18±0.44 y old) of the University of the Basque Country (Spain) were trained in observational techniques and tested in food-weight estimation during and after a 3-hour training period. The program included 57 commonly consumed foods that represent a variety of forms (125 different shapes). Estimates of food weight were compared with actual weights. Effectiveness of training was determined by examining change in the absolute percentage error for all observers and over all foods over time. Data were analyzed using SPSS vs. 13.0. The portion-size errors decreased after training for most of the foods. Additionally, the accuracy of their estimates clearly varies by food group and forms. Amorphous was the food type estimated least accurately both before and after training. Our findings suggest that future dietitians can be trained to estimate quantities by direct observation across a wide range of foods. However this training may have been too brief for participants to fully assimilate the application.

Nola eraikitzen da ikus-entzunezko testu arrakastatsu bat? Kimuakeko film laburrei buruzko txostena

Nivel educativo: Grado. Duración (en horas): De 41 a 50 horas