Síndrome uña-rótula

Presentamos el estudio de 3 casos afectos de un síndrome "uña-rótula", con historia familiar positiva en uno de ellos. Este síndrome es un transtorno hereditario de transmisión autosómica dominante, caracterizado por displasia ungueal y de articulacione s y formación de una s excrecencia s óseas características a nive l del ilíaco (cuernos ilíacos). El síndrome completo se define por los cambios esqueléticos asociados a una nefropatía. Describimos las anomalías clínico-radiográficas de tres paciente s y realizamos una revisión de la literatura sobre esta displasia poco frecuente.The author s showed thre e patients affected by "nail patella" syndrome with positive familiar history in one case. The "nail patella" syndrome is an autosomal dominant condition, characterized by nail and joint dysplasia and extra bone formation at the os ilium. The complet e syndrome is characterized by a serie s of skeletal disorders and specific nephropathy. This article reports the clinical and roentgenographi c findings of three patients and the results of the study of their families. A review of the literature is done

Targeted-pig trial on safety and immunogenicity of serum-derived extracellular vesicles enriched fractions obtained from Porcine Respiratory and Reproductive virus infections

The Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the etiological agent of one of the most important swine diseases with a significant economic burden worldwide. Unfortunately, available vaccines are partially effective highlighting the need of novel approaches. Previously, antigenic viral proteins were described in serum-derived extracellular vesicles (EVs) from pigs previously infected with PRRSV. Here, a targeted-pig trial was designed to determine the safety and immunogenicity of such extracellular vesicles enriched fractions. Our results showed that immunizations with EV-enriched fractions from convalescence animals in combination with montanide is safe and free of virus as immunizations with up-to two milligrams of EV-enriched fractions did not induce clinical symptoms, adverse effects and detectable viral replication. In addition, this vaccine formulation was able to elicit specific humoral IgG immune response in vaccinated animals, albeit variably. Noticeably, sera from vaccinated animals was diagnosed negative when tested for PRRSV using a commercial ELISA test; thus, indicating that this new approach differentiates vaccinated from infected animals. Lastly, after priming animals with EV-enriched fractions from sera of convalescence animals and boosting them with synthetic viral peptides identified by mass spectrometry, a distinctive high and specific IFN-γ response was elicited. Altogether, our data strongly suggest the use of serum EV-enriched fractions as a novel vaccine strategy against PRRSV.Anti-CD9, Anti-CD63 and anti-CD81 antibodies were kindly donated by Francisco Sánchez-Madrid and Maria Yañez-Mo, Hospital de la Princesa, Madrid, Spain. The authors wish to particularly thank Glòria Abella for her collaboration in conducting the field study and to Marta Alcobé, Miriam Moron Font and Paula Crego Mendez for technical assistance. This study received support from Innovex Therapeutics S.L., Pinsos del Segre SA, Granja Casanyé, Grup de Sanejament Porci (GSP, Lleida, Spain) and the FEDER project (COMRDI16-1-0035-03). Sergio Montanter-Tarbes is an industrial doctorate awarded by the Government of Catalonia, Spain (No. 2014 DI 044). ISGlobal and IGTP are members of the CERCA Programme, Generalitat de Catalunya

Seasonal variation of inter-limb jumping asymmetries in youth team-sport athletes

The main objective of the present study was to provide seasonal variation data for inter-limb asymmetry in youth elite team-sport athletes. Fifty-nine players performed the single leg countermovement jump (SLCMJ) and the one leg hop for distance (OLHT) tests during pre-season, mid-season and end-season. A repeated-measures analysis of variance was conducted to determine magnitude differences in asymmetry scores between time points. Kappa coefficients (κ) were calculated to determine the levels of agreement for the direction of asymmetry. When comparing inter-limb asymmetry magnitudes across the season, the SLCMJ test showed significantly higher asymmetries at mid-season in comparison with pre-season and end-season (p<0.01, d=-1.03 for pre to mid; p<0.01, d=1.12 for pre to end). However, OLHT inter-limb asymmetry magnitude remained consistent throughout the season (ES range=-0.02 to -0.06). For the direction of asymmetry, levels of agreement ranged from poor to slight in the SLCMJ (k-0.10 to 0.18) and in the OLHT (k-0.21 to 0.18). No significant differences were found between mean asymmetry values at any time point or for either test when comparing males and females. In conclusion, jump height asymmetry during the SLCMJ was the only metric to show significant magnitude changes across the season

Inter-limb asymmetries are associated with decrements in physical performance in youth elite team sports athletes

Actually, there is scarce literature looking for the relationship between inter-limb asymmetries and performance in youth elite team sports. The main purpose of this cross-sectional study was to examine the relationships between inter-limb asymmetries and physical performance in youth elite team-sports players. A secondary objective was to evaluate the presence of between-sexes differences in inter-limb asymmetries in elite youth team sports players. Eighty-one young elite team-sports athletes (age: u-14 to u-18) performed the star excursion balance test in the anterior direction (SEBT ANT), a single leg vertical countermovement jump test (SLCMJ), the one leg hop test for distance (OLHT), a 30 m sprint test, and the V-cut test. Inter-limb asymmetries were calculated for SEBT ANT, SLCMJ and OLHT. Pearson r was used to analyse the relationships between inter-limb asymmetries and physical performance. Results showed significant (p ˂ 0.05) but small (r = 0.26) relationships between SLCMJ asymmetries and 30 m sprint time for the total group. Significant negative correlations with small to moderate magnitude of correlation were also found between SLCMJ asymmetries and SLCMJ performance on the lowest performing limb for the total group (p < 0.05; r = -0.26), males (p < 0.01; r = -0.48) and females (p < 0.05; r = -0.30). Moreover, significant negative correlations with moderate and large magnitude were also present between OLHT asymmetries and OLHT performance on the lowest performing limb for the total group (p < 0.01; r = -0.44), males (p < 0.01; r = -0.56) and females (p < 0.01; r = -0.64). No correlations were observed between asymmetries and either the V-cut test or SEBT ANT performance. No correlation were observed between SEBT ANT asymmetries and physical performance. In addition, when comparing asymmetry values between sexes there were no significant differences in vertical (p = 0.06) and horizontal (p = 0.61) jumping tests. However, there were significant differences in asymmetry between sexes in the ANT SEBT (p = 0.04). In conclusion, the current study indicated that jumping asymmetries were associated with decrements in sprint speed and jumping performance. Therefore, assessing inter-limb asymmetries would be recommended to improve training interventions for youth elite team-sports athletes

L’endocarst i les mines de la serra de na Burguesa (Mallorca, Illes Balears). 2. Estat actual del coneixement paleontològic, de la vegetació pteridofítica i briofítica de les entrades de les cavitats i biospeleològic

Es presenta l’estat de la qüestió sobre el coneixement paleontològic, biospeleològic i de la vegetació pteridofítica i briofítica de les cavitats de la serra de na Burguesa (serra de Tramuntana, Illa de Mallorca). En aquesta serra s’han trobat jaciments d’origen càrstic que han lliurat fòssils de vertebrats quaternaris molt importants com n’és el cas de Myotragus batei. La flora briofítica i pteridofítica de les entrades de les cavitats no presenta peculiaritats importants, a excepció del Clot des Cero on s’hi pot trobar: Homalia lusitanica i Asplenium scolopendrium. Referent a la fauna invertebrada, hi ha endemismes singulars com Entomobrya vadelli i pel que fa als vertebrats, remarcar la importància de les coves del Pilar com a estació de la ratapinyada Miniopterus schreibersii.The state of the art knowledge palaeontological biospeleològic and vegetation pteridofítica briofítica and the cavities of the Sierra Na Burguesa (Tramuntana, Majorca) are know. In this mountain karstic deposits we are found and studied Quaternary vertebrate fossil important how the case Myotragus batei. The briophytic and pteridophytic flora of entries cavities are not important, except Clot des Cero whit Homalia lusitanica and Asplenium scolopendrium. Regarding invertebrate fauna, there are endemic Entomobrya vadelli, only know from this cave, and vertebrate stressed the importance of caves as Pilar with the bat Miniopterus schreibersii station

A cytoplasmic Slo3 isoform is expressed in somatic tissues

Slo3 is a pH-sensitive and weakly voltage-sensitive potassium channel that is essential for male fertility in mouse and whose expression is regarded as sperm-specific. These properties have proposed Slo3 as a candidate target for male contraceptive drugs. Nonetheless, the tissue distribution of Slo3 expression has not been rigorously studied yet. Applying computational and RT-PCR approaches, we identified expression of two short Slo3 isoforms in somatic mouse tissues such as brain, kidney and eye. These isoforms, which seem to result of transcription starting sites between exons 20 and 21, have an identical open reading frame, both encoding the terminal 381 amino acids of the cytosolic Slo3 domain. We corroborated the expression of these isoforms in mouse brain and testis by Western-blot. The complete isoform encoding the Slo3 ion channel was uniquely detected in testis, both at transcript and protein level. Although the functional role of the cytosolic Slo3 isoforms remains to be established, we propose that they may have a functional effect by modulating Slo channels trafficking and/or activity. This study confirms that expression of full-length Slo3 is sperm-specific but warns against developing contraceptive drugs targeting the C-terminal tail of Slo3 channels