Chromosome-level genome sequence of the Genetically Improved Farmed Tilapia (GIFT, Oreochromis niloticus) highlights regions of introgression with O. mossambicus.

BACKGROUND: The Nile tilapia (Oreochromis niloticus) is the third most important freshwater fish for aquaculture. Its success is directly linked to continuous breeding efforts focusing on production traits such as growth rate and weight. Among those elite strains, the Genetically Improved Farmed Tilapia (GIFT) programme initiated by WorldFish is now distributed worldwide. To accelerate the development of the GIFT strain through genomic selection, a high-quality reference genome is necessary. RESULTS: Using a combination of short (10X Genomics) and long read (PacBio HiFi, PacBio CLR) sequencing and a genetic map for the GIFT strain, we generated a chromosome level genome assembly for the GIFT. Using genomes of two closely related species (O. mossambicus, O. aureus), we characterised the extent of introgression between these species and O. niloticus that has occurred during the breeding process. Over 11 Mb of O. mossambicus genomic material could be identified within the GIFT genome, including genes associated with immunity but also with traits of interest such as growth rate. CONCLUSION: Because of the breeding history of elite strains, current reference genomes might not be the most suitable to support further studies into the GIFT strain. We generated a chromosome level assembly of the GIFT strain, characterising its mixed origins, and the potential contributions of introgressed regions to selected traits.

Factores de riesgo asociados a evolución desfavorable en el tratamiento de las infecciones de partes blandas

Introducción: Las infecciones de piel y partes blandas (IPPB) son una consulta frecuente y los casos graves conllevan morbimortalidad, por lo que su identificación y manejo precoz es fundamental para mejorar el pronóstico. Objetivo: Identificar los factores de riesgo asociados a una evolución desfavorable y mortalidad en pacientes tratados por IPPB en nuestro centro. Materiales y Método: Se realizó un estudio de casos y controles de una serie consecutiva de 172 pacientes con diagnóstico de IPPB entre enero de 2018 y enero de 2019, se recolectaron variables clínicas, de laboratorio e imagenológicas. Se definió como casos aquellos que requirieron cirugía, ingresaron a una unidad de paciente crítico o fallecieron, y como controles a los pacientes con buena respuesta al tratamiento médico. Resultados: Al realizar el análisis estadístico: la leucocitosis > 12.000 cel/mm3 (OR 6,56; IC 95%; 3,21-13,42), y la PCR > 150 mg/dl (OR 7,79; IC 95%; 3,59-16,91), resultaron ser factores de riesgo para evolución desfavorable. El puntaje LRINEC elevado (25,5% vs. 15,1%, p = 0,1034) y la cirugía tardía al ingreso (31,3% vs. 16,2%, p = 0.2632) fueron más frecuente en los casos de evolución desfavorable, pero sin diferencia significativa. Discusión: El uso de parámetros clínicos, de laboratorio e imágenes es fundamental para un diagnóstico precoz y tratamiento oportuno. Conclusiones: La leucocitosis, la elevación de la PCR y la cirugía tardía son factores de mal pronóstico en IPPB. El puntaje LRINEC aún es controversial por su baja sensibilidad.

Introduction: Skin and soft tissue infections (SSTI) are a frequent consultation and severe cases carry morbidity and mortality, so their early identification and management is essential to improve prognosis. Aim: To identify the risk factors associated with an unfavorable evolution and mortality in patients treated for SSTI in our center. Materials and Method: A case-control study of a consecutive series of 172 patients diagnosed with SSTI between January 2018 and January 2019 was carried out, clinical, laboratory and imaging variables were collected. Cases were defined as those that required surgery, were admitted to a critical patient unit or died, and as controls were patients with a good response to medical treatment. Results: When performing the statistical analysis: leukocytosis > 12,000 cel/mm3 (OR 6.56; 95% CI; 3.21-13.42), and CRP > 150 mg/dl (OR 7.79; 95% CI; 3.59-16.91), turned out to be risk factors for unfavorable evolution. The high LRINEC score (25.5% vs. 15.1%, p = 0.1034) and late surgery on admission (31.3% vs. 16.2%, p = 0.2632) were more frequent in cases of evolution unfavorable but without significant difference. Discussion: The use of clinical, laboratory and imaging parameters is essential for an early diagnosis and timely treatment. Conclusions: Leukocytosis, elevated CRP, and late surgery are poor prognostic factors in SSTI. The LRINEC score is still controversial due to its low sensitivity.

Exploring genetic resistance to infectious salmon anaemia virus in Atlantic salmon by genome-wide association and RNA sequencing.

BACKGROUND: Infectious Salmonid Anaemia Virus (ISAV) causes a notifiable disease that poses a large threat for Atlantic salmon (Salmo salar) aquaculture worldwide. There is no fully effective treatment or vaccine, and therefore selective breeding to increase resistance to ISAV is a promising avenue for disease prevention. Genomic selection and potentially genome editing can be applied to enhance host resistance, and these approaches benefit from improved knowledge of the genetic and functional basis of the target trait. The aim of this study was to characterise the genetic architecture of resistance to ISAV in a commercial Atlantic salmon population and study its underlying functional genomic basis using RNA Sequencing. RESULTS: A total of 2833 Atlantic salmon parr belonging to 194 families were exposed to ISAV in a cohabitation challenge in which cumulative mortality reached 63% over 55 days. A total of 1353 animals were genotyped using a 55 K SNP array, and the estimate of heritability for the trait of binary survival was 0.13-0.33 (pedigree-genomic). A genome-wide association analysis confirmed that resistance to ISAV was a polygenic trait, albeit a genomic region in chromosome Ssa13 was significantly associated with resistance and explained 3% of the genetic variance. RNA sequencing of the heart of 16 infected (7 and 14 days post infection) and 8 control fish highlighted 4927 and 2437 differentially expressed genes at 7 and 14 days post infection respectively. The complement and coagulation pathway was down-regulated in infected fish, while several metabolic pathways were up-regulated. The interferon pathway showed little evidence of up-regulation at 7 days post infection but was mildly activated at 14 days, suggesting a potential crosstalk between host and virus. Comparison of the transcriptomic response of fish with high and low breeding values for resistance highlighted TRIM25 as being up-regulated in resistant fish. CONCLUSIONS: ISAV resistance shows moderate heritability with a polygenic architecture, but a significant QTL was detected on chromosome 13. A mild up-regulation of the interferon pathway characterises the response to the virus in heart samples from this population of Atlantic salmon, and candidate genes showing differential expression between samples with high and low breeding values for resistance were identified.

Síndrome de hombre en barril secundario a trauma raquimedular. Reporte de caso / Man-in-the-barrel syndrome secondary to spinal cord trauma. Case report

Resumen Presentamos caso de un varón de 77 años con antecedentes de alcoholismo, limitación crónica al flujo aéreo, y trauma encéfalo craneano (TEC) antiguo, que ingresa por cuadro de insuficiencia respiratoria global con descompensación aparentemente infecciosa que evoluciona tórpidamente con asistencia de ventilación mecánica no invasiva (VMNI) persistente. Se objetiva diparesia de predominio braquial proximal lo que hace sospechar síndrome de hombre en barril (SHB). Se completa estudio con resonancia nuclear magnética (RNM) de columna cervical que muestra severa atrofia medular desde bulbo distal hasta C4. El paciente se mantiene con VMNI c/ BiPAP y apoyo kinésico, con lo que logra progresiva mejoría ventilatoria.

We present a patient 77-year-old male with a history of alcoholism, chronic airflow limitation, and old brain trauma injury, who is admitted due to a global respiratory insufficiency with apparently infectious decompensation that evolves rapidly dependent on non-invasive mechanical ventilation and with a, Man-in-the-barrel syndrome. A magnetic resonance of cervical spine showed severe spinal atrophy from the distal medulla oblongata to C4. The patient remains with kinesic motor support, thereby achieving progressive ventilatory improvement.

Justicia social y justicia ocupacional en psiquatría forense: una perspectiva desde la terapia ocupacional / Social justice and occupational justice in the forensic psychiatry: an occupational therapy perspective

El presente ensayo tiene por objeto analizar y reflexionar en torno al concepto de justicia desde una mirada de la terapia ocupacional. Para esto se revisarán tres conceptos fundamentales: la idea de justicia y justicia social como ideales dentro de nuestra sociedad; la justicia penal y la justicia ocupacional. Para enriquecer esta reflexión teórica, se considera el marco institucional vigente en Chile, los cuales son clave para establecer que ocurre en las residencias forenses para pacientes psiquiátricos ya que es allí donde convergen claramente las visiones desde las disciplinas del derecho y la salud mental. Finalmente, se establecen los alcances de esta relación en el quehacer profesional de los y las terapeutas ocupacionales, principalmente al momento de considerar la complejidad de su práctica dentro de los equipos de salud que se vinculan a la salud mental y psiquiatría forense dentro de un marco institucional establecido.

This abstract has as aim analyze and reflect on the concept of law from a occupational therapy point of view. For that reason, three fundamental concepts are going to be checked: the idea of justice and social justice as ideals within our society; criminal justice and occupational justice.In order to enrich this theoretical reflection, it will be considered the valid institutional framework in Chile which is the key to establish what occurs in the forensic residences with psychiatric patients, as it is in there where the visions of the disciplines of law and mental health are clearly converged. Finally, the importance of this relation in professional chores of occupational therapy is established mainly where the complexity of the practice inside the health teams who are linked to mental health and forensic psychiatry within an established institutional framework.

Carcinoide apendicular: comunicación de 6 casos y actualización del tema / Carcinoid tumor of the appendix: report of 6 cases and subject updating

Los carcinoides son tumores neuroendocrinos de baja incidencia en la población general. Aparecen con mayor frecuencia en apéndice cecal, seguido por intestino delgado, recto y bronquios. Los tumores carcinoides apendiculares son habitualmente asintomáticos, por lo que la mayoría de las veces sólo se descubren en las biopsias de pieza operatoria de apendicectomías. Su tratamiento es quirúrgico y presentan un buen pronóstico. Estudiamos las biopsias apendiculares efectuadas entre los años 1993 y 2003, encontrando un total de 6 casos de tumor carcinoide apendicular. Cuatro de éstos presentaban histología del tipo clásico y dos correspondían a adenocarcinoides apendiculares. El tratamiento consistió en apendicectomía simple en cuatro de los pacientes y en hemicolectomía derecha en los dos restantes. La indicación de hemicolectomía se basó en el tamaño y/o el nivel de invasión del tumor. En este trabajo además de analizar las características de los casos encontrados se efectúa una revisión bibliográfica actualizada del tema.

Ca2+/calmodulin-kinase II enhances channel conductance of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate type glutamate receptors.

The ability of central glutamatergic synapses to change their strength in response to the intensity of synaptic input, which occurs, for example, in long-term potentiation (LTP), is thought to provide a cellular basis for memory formation and learning. LTP in the CA1 field of the hippocampus requires activation of Ca2+/calmodulin-kinase II (CaM-KII), which phosphorylates Ser-831 in the GluR1 subunit of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate glutamate receptor (AMPA-R), and this activation/phosphorylation is thought to be a postsynaptic mechanism in LTP. In this study, we have identified a molecular mechanism by which CaM-KII potentiates AMPA-Rs. Coexpression in HEK-293 cells of activated CaM-KII with GluR1 did not affect the glutamate affinity of the receptor, the kinetics of desensitization and recovery, channel rectification, open probability, or gating. Single-channel recordings identified multiple conductance states for GluR1, and coexpression with CaM-KII or a mutation of Ser-831 to Asp increased the contribution of the higher conductance states. These results indicate that CaM-KII can mediate plasticity at glutamatergic synapses by increasing single-channel conductance of existing functional AMPA-Rs or by recruiting new high-conductance-state AMPA-Rs.

Regulatory phosphorylation of AMPA-type glutamate receptors by CaM-KII during long-term potentiation.

Long-term potentiation (LTP), a cellular model of learning and memory, requires calcium-dependent protein kinases. Induction of LTP increased the phosphorus-32 labeling of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPA-Rs), which mediate rapid excitatory synaptic transmission. This AMPA-R phosphorylation appeared to be catalyzed by Ca2+- and calmodulin-dependent protein kinase II (CaM-KII): (i) it correlated with the activation and autophosphorylation of CaM-KII, (ii) it was blocked by the CaM-KII inhibitor KN-62, and (iii) its phosphorus-32 peptide map was the same as that of GluR1 coexpressed with activated CaM-KII in HEK-293 cells. This covalent modulation of AMPA-Rs in LTP provides a postsynaptic molecular mechanism for synaptic plasticity.

Identification of the Ca2+/calmodulin-dependent protein kinase II regulatory phosphorylation site in the alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate-type glutamate receptor.

Ca2+/CaM-dependent protein kinase II (CaM-KII) can phosphorylate and potentiate responses of alpha-amino3-hydroxyl-5-methyl-4-isoxazole-propionate-type glutamate receptors in a number of systems, and recent studies implicate this mechanism in long term potentiation, a cellular model of learning and memory. In this study we have identified this CaM-KII regulatory site using deletion and site-specific mutants of glutamate receptor 1 (GluR1). Only mutations affecting Ser831 altered the 32P peptide maps of GluR1 from HEK-293 cells co-expressing an activated CaM-KII. Likewise, when CaM-KII was infused into cells expressing GluR1, the Ser831 to Ala mutant failed to show potentiation of the GluR1 current. The Ser831 site is specific to GluR1, and CaM-KII did not phosphorylate or potentiate current in cells expressing GluR2, emphasizing the importance of the GluR1 subunit in this regulatory mechanism. Because Ser831 has previously been identified as a protein kinase C phosphorylation site (Roche, K. W., O'Brien, R. J., Mammen, A. L., Bernhardt, J., and Huganir, R. L. (1996) Neuron 16, 1179-1188), this raises the possibility of synergistic interactions between CaM-KII and protein kinase C in regulating synaptic plasticity.

Ovarian steroidal response to gonadotropins and beta-adrenergic stimulation is enhanced in polycystic ovary syndrome: role of sympathetic innervation.

Experimental induction of a polycystic ovarian syndrome (PCOS) in rodents by the administration of a single dose of estradiol valerate (EV) results in activation of the peripheral sympathetic neurons that innervate the ovary. This activation is evidenced by an increased capacity of ovarian nerve terminals to incorporate and release norepinephrine (NE), an increase in ovarian NE content, and a decrease in ovarian beta-adrenergic receptor number in the ovarian compartments receiving catecholaminergic innervation. The present experiments were undertaken to examine the functional consequences of this enhanced sympathetic outflow to the ovary. The steroidal responses of the gland to beta-adrenergic receptor stimulation and hCG were examined in vitro 60 days after EV administration, i.e. at the time when follicular cysts are well established. EV-treated rats exhibited a remarkable increase in ovarian progesterone and androgen responses to isoproterenol, a beta-adrenergic receptor agonist, with no changes in estradiol responsiveness. Basal estradiol release was, however, 50-fold higher than the highest levels released from normal ovaries at any phase of the estrous cycle. The ovarian progesterone and androgen responses to hCG were enhanced in EV-treated rats, as were the responses to a combination of isoproterenol and hCG. Transection of the superior ovarian nerve (SON), which carries most of the catecholaminergic fibers innervating endocrine ovarian cells, dramatically reduced the exaggerated responses of all three steroids to both beta-adrenergic and gonadotropin stimulation. SON transection also reduced the elevated levels of ovarian NE resulting from EV treatment and caused up-regulation of beta-adrenoreceptors. Most importantly, SON transection restored estrous cyclicity and ovulatory capacity. The results indicate that the increased output of ovarian steroids in PCOS is at least in part due to an enhanced responsiveness of the gland to both catecholaminergic and gonadotropin stimulation. The ability of SON transection to restore a normal response indicates that the alteration in steroid output results from a deranged activation of selective components of the noradrenergic innervation to the ovary. These findings support the concept that an alteration in the neurogenic control of the ovary contributes to the etiology of PCOS.

[Plasma estradiol levels and duration of lactation amenorrhea]. / Niveles de estradiol plasmático y duración de la amenorrea de lactancia.

In Temuco, Chile, 114 women in fully nursing, were studied, according to their length of lactational amenorrhea and their relation with estradiol levels at 3th postpartum month. Sixty six (58%) recovery their menses before the 6th postpartum month. The length of lactational amenorrhea was 100.7-5.2 and 277 +/- 10.6 days, for those mothers who were with menses and amenorrhea, respectively. The estradiol levels were 88 pmol/l higher in the woman with short length of lactational amenorrhea. This study corroborate, that short length of lactational amenorrhea is a condition highly frequent in Chilean population. The difference in the estradiol levels may be a indicators of the early recovery of the postpartum fertility.

[General and ethnic factors associated with the duration of lactation amenorrhea]. / Factores generales y étnicos asociados a la duración de la amenorrea de lactancia.

114 women in fully nursing, were studied, according to the length of lactational amenorrhea and their relation with general characteristics and ethnic group. Of the 114 mothers, 66 (58%) recovery their menses before the 6th postpartum month. The length of lactation was 100.7 +/- 5.2 and 277.9 +/- 10.5 days, for those mothers who were with menses and amenorrhea until the 6th postpartum month, respectively. A group of Mapuche women had a higher length of lactational amenorrhea and we found differences in the frequency of suckling episodes at night. This study corroborate, that short length of lactational amenorrhea is a condition highly frequent in Chilean population and it does not have a relation the nursing pattern in general population. However, the difference in the length of lactational amenorrhea in specific ethnic group, can include some general or behavioral factors of breast-feeding.

Release of norepinephrine from the rat ovary: local modulation of gonadotropins.

Experiments were undertaken to define the role of gonadotropins in the release of norepinephrine and the relationship with beta-receptors of the ovary. Rat ovaries were removed at different stages of the estrous cycle and incubated in [3H]norepinephrine. Subsequently, ovaries were electrically stimulated and the release of [3H]norepinephrine was recorded. There were no changes in the norepinephrine content during the estrous cycle. The ovary exhibited cyclical variation in norepinephrine-induced release during the estrous cycle. The lowest release of norepinephrine was found during diestrus; there was an increase during proestrus and estrus followed by a decline during metestrus. The release of norepinephrine changed in the opposite way to the beta-receptor number, suggesting a process involving down-regulation between norepinephrine release and beta-receptors of the ovary. Norepinephrine released from the ovary was locally regulated by gonadotropins. The presence of FSH in the superfusion medium stimulated the norepinephrine-induced release from the ovaries of rats in diestrus (by 20%) and estrus (by 40%), but no effect was found during proestrus. In addition, the presence of hCG stimulated (by 40%) norepinephrine-induced release during proestrus, but no changes were apparent during the other stages of the estrous cycle. These results suggest that the local action of gonadotropins on nerve terminals of the ovary might be one of the factors governing the changes in norepinephrine release through the estrous cycle. The changes in the norepinephrine released to the synaptic cleft might exert down-regulation on the beta-adrenergic receptor content of the ovary and in this way control the ovarian steroid secretory activity.

[Influence of basal and post-feeding prolactin levels on amenorrhea during breast feeding]. / Influencia de los niveles de prolactina basal y postsucción en la amenorrea de lactancia.

Forty five women, with exclusive breastfeeding were studied, (the objective was) to explore the relationship between: basal plasma prolactin (PRL) levels and post-suckling with the duration of postpartum amenorrhea. Blood samples for measurements of PRL were taken at the third month postpartum, before an episode of suckling and 30 minutes after the suckling was initiated. The average level of basal PRL was 1,033 +/- 113 mIU/L (mean +/- SE). Women who presented long periods of amenorrhea, had an increase of the basal PRL in 632 mIU/L (X), compare to those women who had their menses before 180 days postpartum (p = 0.036) women with longer amenorrhea (p = 0.06). However there were no relationship between the menses at the sixth month postpartum and the increase of post-suckling PRL (delta PRL). In this study it was found that the levels of basal PRL had correlation with the duration of the amenorrhea, in women with exclusive breastfeeding.