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1.
Phys Rev Lett ; 129(25): 255701, 2022 Dec 16.
Artículo en Inglés | MEDLINE | ID: mdl-36608247

RESUMEN

In solids, the response of the lattice to photoexcitation is often described by the inertial evolution on an impulsively modified potential energy surface which leads to coherent motion. However, it remains unknown if vibrational coherence is sustained through a phase transition, during which coupling between modes can be strong and may lead to rapid loss of coherence. Here we use coherent phonon spectroscopy to track lattice coherence in the structural phase transition of V_{2}O_{3}. In both the low and high symmetry phases unique coherent phonon modes are generated at low fluence. However, coherence is lost when driving between the low and high symmetry phases. Our results suggest strongly damped noninertial dynamics dominate during the phase transition due to disorder and multimode coupling.

2.
J Dairy Sci ; 105(6): 5349-5369, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35469642

RESUMEN

The objectives were as follows: (1) establish cow-level thresholds for prepartum nonesterified fatty acids (NEFA) and postpartum NEFA, ß-hydroxybutyrate (BHB), and haptoglobin (Hp) concentrations associated with negative health events; (2) evaluate cow-level associations between biomarkers and 305-d mature equivalent milk at the fourth test day (ME305) and reproductive performance; and (3) identify herd-alarm levels (proportion of cows sampled above the critical threshold) for biomarkers that are associated with herd-level changes in disorder incidence (displaced abomasum and clinical ketosis), reproductive performance, and ME305. In a prospective cohort study, 1,473 cows from 72 farms were enrolled from the northeastern United States. Blood samples were collected from the same 11 to 24 cows per herd during the late-prepartum and early-postpartum periods. Whole blood was analyzed for postpartum BHB concentrations; plasma was analyzed for prepartum and postpartum NEFA and postpartum Hp concentrations. Critical thresholds for the biomarkers associated with health events for all cows were established using a receiver operating characteristic curve analysis. Poisson, linear mixed effects, and Cox proportional hazards models investigated the association of the biomarkers with health and performance. The prepartum NEFA and Hp threshold associated with culling was ≥0.17 mmol/L and 0.45 g/L, respectively. The postpartum NEFA and BHB thresholds associated with diagnosis of metritis, displaced abomasum, or clinical ketosis were ≥0.46 mmol/L and ≥0.9 mmol/L, respectively. Multiparous cows with prepartum NEFA concentration ≥0.17 mmol/L produced 479 kg less ME305. Multiparous and primiparous cows with postpartum NEFA concentration ≥0.46 mmol/L produced 280 kg less and 446 kg more ME305, respectively. Cows with BHB concentration ≥0.9 and ≥1.1 mmol/L produced 552 kg more ME305 and had a 20% decreased risk of pregnancy within 150 d in milk, respectively; however, multiparous cows with BHB concentration ≥1.5 mmol/L produced 376 kg less ME305. Cows with Hp concentration ≥0.45 g/L produced 492 kg less ME305 and had 28% decreased risk of pregnancy within 150 DIM. Cows with Hp concentration ≥0.45 g/L had 19% decreased pregnancy risk to first service (PRFS). Herds above the herd-alarm levels for prepartum NEFA had a 6.0-percentage unit increase in disorder incidence and a 6.0-percentage unit decrease in 21-d pregnancy rate (PR) for multiparous cows, a 3.9-percentage unit increase in PR and a 5.8-percentage unit increase in the probability of pregnancy for primiparous cows. Herds above the herd-alarm levels for postpartum NEFA had a 5.8- and 4.2-percentage unit increase in disorder incidence for multiparous and primiparous cows, respectively, a 789 kg decrease in ME305 for multiparous cows, and a 6.8- and 6.3-percentage unit decrease and increase in PR and PRFS for multiparous cows, respectively. Herds above the herd-alarm levels for BHB had an 8.5-percentage unit increase in disorder incidence, a 332 and 229 kg increase in ME305 for primiparous and multiparous cows, respectively, and a 3.2-, 5.2-, and 7.0-percentage unit decrease in PR, probability of pregnancy, and PRFS, respectively. Herds above the herd-alarm levels for postpartum Hp had a 5.3-percentage unit increase in disorder incidence. At the cow level and herd level, elevated biomarker concentrations were associated with an increased disorder risk and varied performance responses.


Asunto(s)
Enfermedades de los Bovinos , Cetosis , Gastropatías , Ácido 3-Hidroxibutírico , Animales , Biomarcadores , Bovinos , Ácidos Grasos no Esterificados , Femenino , Haptoglobinas/análisis , Inflamación/veterinaria , Cetosis/veterinaria , Lactancia/fisiología , Leche/química , Periodo Posparto , Embarazo , Estudios Prospectivos , Reproducción , Gastropatías/veterinaria
3.
J Synchrotron Radiat ; 27(Pt 3): 796-798, 2020 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-32381783

RESUMEN

The electron linear accelerators driving modern X-ray free-electron lasers can emit intense, tunable, quasi-monochromatic terahertz (THz) transients with peak electric fields of V Å-1 and peak magnetic fields in excess of 10 T when a purpose-built, compact, superconducting THz undulator is implemented. New research avenues such as X-ray movies of THz-driven mode-selective chemistry come into reach by making dual use of the ultra-short GeV electron bunches, possible by a rather minor extension of the infrastructure.

4.
J Dairy Sci ; 103(6): 5604-5615, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32253039

RESUMEN

Infections of the mammary gland in dairy cows are commonly accompanied by reduced milk production and feed intake and poor milk quality. The metabolic status of early-lactating cows is known to affect immune response to pathogens and imposed immune challenges. We investigated the extent to which metabolic status before an intramammary lipopolysaccharide (LPS) challenge (LPS-CH) is associated with immune response, milk production, and feed intake and the recovery thereof. In 15 Holstein cows, weekly blood sampling and daily recording of dry matter intake, milk yield, milk composition, and body weight (to calculate energy balance) was started immediately after parturition. In wk 4 after parturition, cows underwent an intramammary LPS-CH (50 µg of LPS into 1 quarter). Blood and milk samples were taken in parallel at 30- and 60-min intervals, respectively, until 10 h after the LPS application. Plasma concentrations of glucose, nonesterified fatty acids, ß-hydroxybutyrate (BHB), cortisol, and insulin were analyzed. In milk, serum albumin, IgG concentration, somatic cell count (SCC), and lactate dehydrogenase (LDH) activity were determined. Dry matter intake and milk yield were recorded for an additional 6 d. Milk of the LPS-treated quarter was sampled at every milking for 8 d after the challenge. Based on plasma glucose concentrations in wk 1 to 4 after parturition before the LPS-CH, cows were retrospectively grouped into a high-glucose group (HG; 3.34-3.93 mmol/L, n = 7) and a low-glucose group (LG; 2.87-3.31 mmol/L, n = 8). Data were evaluated using mixed models with time, group, and time × group interaction as fixed effects and cow as repeated subject. Glucose was lower and BHB was higher in LG compared with HG before LPS-CH, whereas dry matter intake, energy balance, and SCC did not differ. During LPS-CH, SCC and LDH increased similarly in HG and LG, body temperature increased less in HG, and BHB and nonesterified fatty acids were higher in LG compared with HG. Dry matter intake declined in both groups during the day of the LPS-CH but recovered to prechallenge values faster in HG. Milk yield recovered within 2 d after the LPS-CH with no differences in morning milkings, whereas evening milk yield increased faster in HG. During 8 d after LPS-CH, SCC, LDH, IgG, and serum albumin in milk were lower in HG compared with LG. In conclusion, the level of circulating glucose and BHB concentrations in cows was associated with metabolic responses during an LPS-CH as well as the recovery of udder health and performance thereafter.


Asunto(s)
Lactancia/fisiología , Lipopolisacáridos/toxicidad , Mastitis Bovina/inducido químicamente , Leche/citología , Animales , Bovinos , Femenino , Glándulas Mamarias Animales/metabolismo , Mastitis Bovina/metabolismo , Mastitis Bovina/patología , Estudios Retrospectivos
5.
Philos Trans A Math Phys Eng Sci ; 377(2145): 20170480, 2019 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-30929631

RESUMEN

Many remarkable properties of quantum materials emerge from states with intricate coupling between the charge, spin and orbital degrees of freedom. Ultrafast photo-excitation of these materials holds great promise for understanding and controlling the properties of these states. Here, we introduce time-resolved resonant inelastic X-ray scattering (tr-RIXS) as a means of measuring the charge, spin and orbital excitations out of equilibrium. These excitations encode the correlations and interactions that determine the detailed properties of the states generated. After outlining the basic principles and instrumentations of tr-RIXS, we review our first observations of transient antiferromagnetic correlations in quasi two dimensions in a photo-excited Mott insulator and present possible future routes of this fast-developing technique. The increasing number of X-ray free electron laser facilities not only enables tackling long-standing fundamental scientific problems, but also promises to unleash novel inelastic X-ray scattering spectroscopies. This article is part of the theme issue 'Measurement of ultrafast electronic and structural dynamics with X-rays'.

6.
J Dairy Sci ; 102(2): 1768-1774, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30580948

RESUMEN

After parturition, the start of copious milk production in dairy cows requires the closure of tight junctions (TJ) to form the blood-milk barrier and prevent paracellular transfer of blood constituents into milk [e.g., lactate dehydrogenase (LDH) and serum albumin (SA)] and vice versa [e.g., appearance of α-lactalbumin (α-LA) in blood]. Serotonin (5-HT) has been demonstrated to alter tight junction permeability in the mammary gland. The present study investigated individual differences of TJ permeability of mammary epithelium at the beginning of lactation in relation to circulating 5-HT in dairy cows. Blood and milk samples were obtained from 11 multiparous Holstein dairy cows for the first time at 4 h after parturition, at the following 5 milkings, and at the evening milkings on d 5, 8, 10, and 14 of lactation. Retrospectively, cows were split into 2 groups according to their calculated areas under the curve of serum 5-HT during the entire experimental period: a high-serum 5-HT (HSS) group (5 cows) and a low-serum 5-HT (LSS) group (6 cows). The areas under the curve of serum 5-HT concentrations over the 324-h experimental period were 62 ± 2 × 103 ng/mL in HSS and 25 ± 5 × 103 ng/mL in LSS. Plasma α-LA concentration was greater in LSS than in HSS cows at the first milking, but no difference between groups was found from the second to sixth milking. Yield of α-LA in milk was lower in HSS than in LSS during the first 6 milkings postpartum, especially in colostrum. Concentrations of α-LA, IgG1, and IgG2 in milk did not differ between groups during the entire experiment except for higher IgG observed in LSS than in HSS at the second milking and for higher IgG2 found in HSS compared with LSS on d 5. In contrast, SA concentrations and LDH activity in milk were lower in LSS compared with HSS cows during the first 6 milkings postpartum, particularly in colostrum. Milk somatic cell count was higher in HSS than in LSS throughout the study. Higher circulating 5-HT concentrations were associated with an increased transfer of the paracellularly transported SA, LDH, and somatic cell count, especially at the first milking, suggesting that 5-HT affects TJ permeability during closure of the blood-milk barrier at the onset of lactation. Furthermore, higher serum 5-HT concentrations were associated with a lower α-LA yield in milk. A consistent relationship with serum 5-HT concentrations was neither observed for the transfer of IgG2 nor the primarily transcellular transport of IgG1 during the first milkings after parturition.


Asunto(s)
Bovinos/sangre , Serotonina/sangre , Uniones Estrechas/metabolismo , Animales , Bovinos/fisiología , Parto Obstétrico , Femenino , Inmunoglobulina G/sangre , Lactalbúmina/sangre , Lactancia/sangre , Leche/metabolismo , Parto , Permeabilidad , Periodo Posparto , Embarazo , Estudios Retrospectivos , Albúmina Sérica/metabolismo
7.
J Dairy Sci ; 101(12): 11455-11460, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30243629

RESUMEN

Serotonin (5-hydroxytryptamine, 5-HT) affects many physiological functions because it is involved in glucose and lipid metabolism, calcium homeostasis, and regulation of lactation in dairy cows. This study aimed to examine physiological differences in serum 5-HT concentrations (high vs. low) and their association with metabolic status and milk production at the onset of lactation. Twelve multiparous Holstein dairy cows were milked within 4 h of calving, and blood and milk samples were collected at the first 6 subsequent milkings after parturition and at the evening milkings on d 5, 8, 10, and 14. Cows were retrospectively divided into 2 groups (6 cows/group): low serum 5-HT (LSS) and high serum 5-HT (HSS) according to their calculated areas under the curve (AUC) for serum 5-HT for the entire experimental period (cut-off: 46,000 ng/mL × 324 h). Concentrations of 5-HT, free fatty acids (FFA), ß-hydroxybutyrate (BHB), glucose, calcium, and IGF-1 were measured in blood. Milk was analyzed for fat, protein, lactose, and 5-HT concentrations. Milk yield was recorded at each milking and energy-corrected milk yield was calculated. Serum 5-HT concentrations were higher in HSS than in LSS [AUC (ng/mL × 324 h): 57,830 ± 4,810 vs. 25,005 ± 5,930]. The amount of energy-corrected milk was lower in HSS than in LSS. The HSS group produced less colostrum and had decreased milk yield, specifically during the first 6 milkings. Concentrations of FFA, BHB, and glucose in plasma did not differ between groups. Concentrations of IGF-1 in serum were elevated in HSS compared with LSS throughout the experiment. Total circulating calcium concentrations in serum tended to be higher in HSS than in LSS. Milk fat and protein yields were decreased in HSS compared with LSS. Milk 5-HT decreased overall during the experimental period, with LSS maintaining higher 5-HT concentrations than HSS until d 14 of lactation. In conclusion, cows with high serum 5-HT concentrations showed a reduced metabolic load at the onset of lactation, concomitantly lower milk yield, and a reduced energy output via milk.


Asunto(s)
Bovinos/sangre , Bovinos/fisiología , Serotonina/sangre , Ácido 3-Hidroxibutírico/sangre , Animales , Ácidos Grasos no Esterificados/sangre , Femenino , Factor I del Crecimiento Similar a la Insulina/metabolismo , Lactancia , Leche/metabolismo , Parto , Embarazo , Estudios Retrospectivos
8.
Nat Mater ; 15(6): 601-5, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-27159018

RESUMEN

Measuring how the magnetic correlations evolve in doped Mott insulators has greatly improved our understanding of the pseudogap, non-Fermi liquids and high-temperature superconductivity. Recently, photo-excitation has been used to induce similarly exotic states transiently. However, the lack of available probes of magnetic correlations in the time domain hinders our understanding of these photo-induced states and how they could be controlled. Here, we implement magnetic resonant inelastic X-ray scattering at a free-electron laser to directly determine the magnetic dynamics after photo-doping the Mott insulator Sr2IrO4. We find that the non-equilibrium state, 2 ps after the excitation, exhibits strongly suppressed long-range magnetic order, but hosts photo-carriers that induce strong, non-thermal magnetic correlations. These two-dimensional (2D) in-plane Néel correlations recover within a few picoseconds, whereas the three-dimensional (3D) long-range magnetic order restores on a fluence-dependent timescale of a few hundred picoseconds. The marked difference in these two timescales implies that the dimensionality of magnetic correlations is vital for our understanding of ultrafast magnetic dynamics.


Asunto(s)
Iridio/química , Campos Magnéticos , Simulación de Dinámica Molecular , Estroncio/química , Superconductividad
9.
Schweiz Arch Tierheilkd ; 159(5): 283-290, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28475483

RESUMEN

INTRODUCTION: The aim of this study is to analyze how somatic cell counts (SCC), immunoglobulin G (IgG), and lactate dehydrogenase (LDH) interact dependent on the mastitis causing pathogen. Milk samples from 152 quarters were collected on 2 Swiss dairy farms equipped with automatic milking systems. Bacteriological culturing was performed and SCC, LDH activity and IgG concentrations were measured in each sample. Correlations and regressions among SCC, LHD, and IgG were calculated after grouping by the pathogen type (control, S. aureus, C. bovis, coagulase-negative Staphylococcus and S. uberis). All the mastitis causing pathogens were gram-positive bacteria (except for 3 cases with E. coli). In this study, the SCC and LDH were affected by the pathogen group. However, only in the S. uberis group the IgG concentration was higher than in the controls. All studied variables were positively correlated among each other. SCC and LDH were the highest correlated parameters in the control, S. aureus, C. bovis and coagulase- negative Staphylococcus groups. Only in the S. uberis group the correlation between LDH and IgG was higher than the correlation between SCC and LDH. The regression coefficients for SCC and LDH differed between groups whereas regression coefficients for SCC and IgG, and for LDH and IgG were similar in all groups. Because cases with E. coli infection were so rare, we could not include these cases in the statistical evaluation. Based on these few cases E. coli (n=3) seemed to cause a much higher increase of IgG and LDH than the infection with gram-positive bacteria. This study shows that the suitability of LDH as a marker for IgG transfer is dependent on the pathogen. The use of LDH in combination with SCC may be used as a marker to differentiate between gram-positive and gram-negative bacteria, but does not allow differentiating the immune response between different gram-positive bacteria.


INTRODUCTION: Dans le présent travail, on a étudié les liens entre le nombre de cellules somatiques (somatic cell count, SCC), les immunoglobulines G (IgG) et la lactate déshydrogénase en fonction des pathogènes à l'origine de la mammite. On a prélevé des échantillons de lait provenant de 152 quartiers dans deux exploitations suisses équipées d'un robot de traite. Outre la mesure du SCC, des IgG et de la LDH, on a effectué un examen bactériologique des échantillons. Après classement selon les types de pathogènes (contrôle, S. aureus, C. bovis, Straphylocoques coagulase négatifs, S. uberis), on a calculé les corrélations et régressions entre SCC, LDH et IgG. Tous les pathogènes de mammite trouvés étaient des bactéries Gram positif; seuls trois quartiers étaient infectés par E. coli. Tant le SCC que la LDH étaient différents selon le type de pathogène mais les IgG n'étaient élevées par rapport aux contrôles que dans les quartiers dans lesquels on a mis en évidence S.uberis. Toutes les variables examinées étaient corrélées positivement entre elles. En ce qui concerne les contrôles, S. aureus, C. bovis et les Straphylocoques coagulase négatifs, la corrélation entre SCC et LDH était particulièrement élevée. Ce n'est que dans le groupe des S. uberis que la corrélation entre LDH et IgG était plus élevée qu'entre SCC et LDH. Les coefficients de régression entre SCC et LDH étaient différents selon les types de pathogènes, alors que la régression entre SCC et IgG de même qu'entre LDH et IgG ne présentait pas de différence suivant les groupes. Vu leur petit nombre (n=3), les quartiers infectés par E. coli n'ont pas pu être pris en compte dans l'exploitation statistique. On constate toutefois que, dans tous les quartiers infectés par E. coli, on mesure des valeurs nettement plus élevées d'IgG et de LDH que dans ceux infectés par des bactéries Gram positif. Cette étude montre que l'utilisabilité de la LDH comme marqueur du transfert des IgG du sang au lait dépend du type de pathogène. La relation entre SCC et LDH pourrait servir de marqueur pour la différenciation entre les infections à Gram positifs ou négatifs; par contre il ne semble pas possible de l'utiliser pour faire une différence entre les diverses bactéries à Gram positifs.


Asunto(s)
Inmunoglobulina G/metabolismo , L-Lactato Deshidrogenasa/metabolismo , Mastitis Bovina/inmunología , Mastitis Bovina/microbiología , Leche/citología , Leche/metabolismo , Animales , Anticuerpos Antibacterianos/análisis , Bovinos , Industria Lechera , Escherichia coli/inmunología , Escherichia coli/aislamiento & purificación , Femenino , Leche/microbiología , Staphylococcus aureus/inmunología , Staphylococcus aureus/aislamiento & purificación , Suiza
10.
S Afr J Surg ; 62(1): 54-58, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38568127

RESUMEN

BACKGROUND: This project analyses all iatrogenic injuries from our department over the last decade and tracks their rate against several interventions. METHODS: All patients who sustained an iatrogenic injury between 2012 and 2022 were reviewed. RESULTS: A total of 946 iatrogenic injuries occurred in 731 patients. Sixty per cent of these patients were male; the median age was 39 years. Of 946 injuries, 574 (60.7%) occurred during an operation, and 372 (39.3%) were not related to an operation. Of the operative injuries 412 (71.8%) were enteric injuries. Of the 372 non-operative iatrogenic injuries 304 (82%) were due to indwelling devices (ID), and 34 (10%) occurred during flexible endoscopy. Fifty-five per cent of the injuries due to ID were due to central venous catheters (CVC) and urinary catheters (UC). CVC contributed toward 31% of all non-operation related iatrogenic injuries. One in 54 admissions (946/51 178) and one in 47 (574 /27 342) patients undergoing an operation sustained an iatrogenic injury. The annual rate of iatrogenic injuries did not decrease over the decade despite a multifaceted approach to reduce them. Interventions included electronic database development, procedural standardisation, and checklist implementation. CONCLUSION: Despite multiple interventions over a decade, our rate of iatrogenic injury remains constant. Ongoing multifaceted efforts to reduce this rate must focus on engendering a culture of safety at all levels of healthcare if we hope to match the enviable safety record of the aeronautics industry.


Asunto(s)
Aviación , Humanos , Masculino , Adulto , Femenino , Bases de Datos Factuales , Hospitalización , Enfermedad Iatrogénica
11.
Ir J Psychol Med ; : 1-4, 2024 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-38647028

RESUMEN

Sustainability of DBT programmes and the factors which potentially influence this has received little attention from researchers. In this article, we review the literature reporting on sustainability of DBT programmes in outpatient settings. We also seek to advance the limited knowledge on this topic by reporting on the sustainability of DBT programmes delivered by teams that trained via a coordinated implementation approach in Ireland. As part of this perspective piece we conducted a systematic literature search which identified four studies reporting on DBT programme sustainability. All four reported on programmes delivered by teams that had received training as per the DBT Intensive Training Model. The findings of these studies are summarised and we consider the effect on DBT programme sustainability of introducing a coordinated implementation approach in Ireland.

12.
Nature ; 445(7123): 61-4, 2007 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-17203056

RESUMEN

The surface of Saturn's haze-shrouded moon Titan has long been proposed to have oceans or lakes, on the basis of the stability of liquid methane at the surface. Initial visible and radar imaging failed to find any evidence of an ocean, although abundant evidence was found that flowing liquids have existed on the surface. Here we provide definitive evidence for the presence of lakes on the surface of Titan, obtained during the Cassini Radar flyby of Titan on 22 July 2006 (T16). The radar imaging polewards of 70 degrees north shows more than 75 circular to irregular radar-dark patches, in a region where liquid methane and ethane are expected to be abundant and stable on the surface. The radar-dark patches are interpreted as lakes on the basis of their very low radar reflectivity and morphological similarities to lakes, including associated channels and location in topographic depressions. Some of the lakes do not completely fill the depressions in which they lie, and apparently dry depressions are present. We interpret this to indicate that lakes are present in a number of states, including partly dry and liquid-filled. These northern-hemisphere lakes constitute the strongest evidence yet that a condensable-liquid hydrological cycle is active in Titan's surface and atmosphere, in which the lakes are filled through rainfall and/or intersection with the subsurface 'liquid methane' table.

13.
Nat Genet ; 13(1): 48-53, 1996 May.
Artículo en Inglés | MEDLINE | ID: mdl-8673103

RESUMEN

Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions are currently the highest known in the human genome. Using a novel application of the amplification refractory mutation system (ARMS), we have determined the parental origin of the new mutation in 57 Apert families: in every case, the mutation arose from the father. This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder.


Asunto(s)
Acrocefalosindactilia/genética , Impresión Genómica , Proteínas Tirosina Quinasas Receptoras/genética , Receptores de Factores de Crecimiento de Fibroblastos/genética , Adulto , Secuencia de Bases , Citosina , Análisis Mutacional de ADN , Cartilla de ADN , Padre , Femenino , Frecuencia de los Genes , Variación Genética , Genotipo , Guanina , Haplotipos , Humanos , Masculino , Edad Materna , Modelos Genéticos , Datos de Secuencia Molecular , Edad Paterna , Linaje , Mutación Puntual , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos , Mapeo Restrictivo
14.
Nat Genet ; 24(4): 387-90, 2000 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-10742103

RESUMEN

The genetic analysis of congenital skull malformations provides insight into normal mechanisms of calvarial osteogenesis. Enlarged parietal foramina (PFM) are oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM are usually asymptomatic, but may be associated with headache, scalp defects and structural or vascular malformations of the brain. Inheritance is frequently autosomal dominant, but no causative mutations have been identified in non-syndromic cases. We describe here heterozygous mutations of the homeobox gene MSX2 (located on 5q34-q35) in three unrelated families with PFM. One is a deletion of approximately 206 kb including the entire gene and the others are intragenic mutations of the DNA-binding homeodomain (RK159-160del and R172H) that predict disruption of critical intramolecular and DNA contacts. Mouse Msx2 protein with either of the homeodomain mutations exhibited more than 85% reduction in binding to an optimal Msx2 DNA-binding site. Our findings contrast with the only described MSX2 homeodomain mutation (P148H), associated with craniosynostosis, that binds with enhanced affinity to the same target. This demonstrates that MSX2 dosage is critical for human skull development and suggests that PFM and craniosynostosis result, respectively, from loss and gain of activity in an MSX2-mediated pathway of calvarial osteogenic differentiation.


Asunto(s)
Suturas Craneales/anomalías , Proteínas de Unión al ADN/genética , Proteínas de Homeodominio/genética , Mutación , Cráneo/anomalías , Adulto , Animales , Secuencia de Bases , Southern Blotting , Niño , Preescolar , Cromosomas Humanos Par 5/genética , Suturas Craneales/diagnóstico por imagen , Suturas Craneales/crecimiento & desarrollo , Análisis Mutacional de ADN , Proteínas de Unión al ADN/deficiencia , Femenino , Humanos , Lactante , Masculino , Ratones , Repeticiones de Microsatélite , Datos de Secuencia Molecular , Osteogénesis/genética , Hueso Parietal/anomalías , Hueso Parietal/crecimiento & desarrollo , Linaje , Radiografía , Eliminación de Secuencia , Cráneo/diagnóstico por imagen , Cráneo/crecimiento & desarrollo
15.
Nat Genet ; 2(1): 37-41, 1992 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-1303246

RESUMEN

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11, 12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at theta = 0.02 with one family independently presenting a lod score of 4.44 at theta = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13.


Asunto(s)
Cromosomas Humanos Par 16 , Ligamiento Genético , Riñón Poliquístico Autosómico Dominante/genética , Esclerosis Tuberosa/genética , Alelos , Femenino , Genes Dominantes , Marcadores Genéticos , Humanos , Escala de Lod , Masculino , Linaje
16.
Nat Genet ; 27(1): 17-8, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11137991

RESUMEN

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.


Asunto(s)
Anomalías Craneofaciales/genética , Proteínas de Unión al ADN , Genes Homeobox/genética , Mutación/genética , Osteogénesis/genética , Proteínas/genética , Cráneo/anomalías , Animales , Secuencia de Bases , Análisis Mutacional de ADN , Exones/genética , Proteínas de Homeodominio/genética , Humanos , Ratones , Datos de Secuencia Molecular , Fenotipo , Mapeo Físico de Cromosoma , Cráneo/embriología , Factores de Transcripción/genética
17.
Injury ; 54(1): 25-28, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36089555

RESUMEN

BACKGROUND: Appropriate fluid resuscitation of acute burn injury is critical and there are recognized challenges with fluid resuscitation, including those with relevance to low resource settings. We developed a practical protocol that guides burn resuscitation and sought to evaluate the safety of our modified resuscitation formula through a small pilot study that particularly addresses the problems we have experienced in a low resource setting. METHODS: Children with burns more than 15% total body surface area admitted within 24 h of injury to Edendale Hospital between 1 June 2021 and 31 August 2021 were included. The resuscitation formula used was 2 mls of Ringers Lactate per bodyweight in kilograms per% total body surface area (TBSA) given over 24 h and adjusted according to urine output. Data analysed included age, weight, mechanism, TBSA, hours post burn at presentation to hospital, total fluid given in the first 24 h of admission, total urine output in the first 24 h of admission, number of fluid adjustments made during the first 24 h and complications related to fluid resuscitation. RESULTS: Ten children were included. The median age was 3 (IQR 2-5) years old, with a mean weight of 14.9 (SD 5.07) kilograms, a median TBSA of 17.4 (IQR 16-26)%, presenting at a median of 12 (6.5-18) hours post burn injury. Mechanism of burn was scald in all cases, with 9 being hot water and hot food in one. In the first 24 h a mean of 2.05 (SD 0.58) mls/kg of fluid was received with a mean urine output of 1.66 (SD 0.57) mls/kg/hr. CONCLUSION: The results of this pilot study to evaluate the safety of our protocol seem reasonable. It is limited by the lack of larger injuries as well as adult patients and a larger prospective study is pertinent.


Asunto(s)
Fluidoterapia , Resucitación , Adulto , Humanos , Niño , Preescolar , Proyectos Piloto , Estudios Prospectivos , Fluidoterapia/métodos , Resucitación/métodos , Lactato de Ringer , Estudios Retrospectivos
18.
S Afr J Surg ; 61(4): 11-15, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38450690

RESUMEN

BACKGROUND: Indwelling devices (IDs) are ubiquitous in modern healthcare and may often be associated with morbidity. This paper investigates adverse events related to IDs in surgical patients, which are generally placed into patients either to administer therapy, manage outputs or for specific therapeutic benefit. METHODS: A retrospective electronic database-based assessment of all adverse events relating to IDs was undertaken from December 2012 to August 2021. All events were categorised by device type, event type, and event severity. RESULTS: A total of 11 130 morbidities were captured over the study period. Of those, 2 195 entries pertained to an ID with 2 402 reported adverse events affecting 1 592 patients. Two-thirds occurred in males and injuries occurred in patients age ranging from eight days to 93 years, with an average age of 36 years. The most frequently implicated devices were surgical drains (including intercostal chest drains), accounting for 491 (20.44%) of adverse events. Central venous catheters (CVCs) and intravenous cannulae were involved in 374 (15.57%) and 332 (13.83%) events, respectively. Unplanned removal (346, 13.91%), output not measured (319, 12.82%), injury (314, 12.62%), and blockage (279, 11.21%) were the most common error types. The majority of adverse events were considered minor, however 27 (1.1%) patients experienced organ dysfunction as a result of an ID-related adverse event, and seven (0.3%) died. CONCLUSIONS: Morbidity related to IDs in surgical patients is a relatively frequent occurrence. Standardisation of ID insertion and care, staff education, and improvements in communication have been identified as the most important strategies by which we can limit error-associated morbidity in patients with IDs.


Asunto(s)
Estudios Retrospectivos , Masculino , Humanos , Adulto , Bases de Datos Factuales
19.
Burns ; 49(4): 854-860, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-35787966

RESUMEN

INTRODUCTION: Low- and middle-income countries (LMICs) remain drastically underrepresented in health research, with African countries producing less than 1% of the global output. This work investigates authorship patterns of publications on burns in LMICs. Original research studies addressing burn injuries in LMICs and published between 1st January 2015 and 31st December 2020 were included in the review. Descriptive statistics were performed for country affiliations of authors, World Bank Country Income Groups, WHO group, study-focus and country studied. Of the 458 results, 426 studies met the inclusion criteria. Nearly a quarter of papers on burns in LMICs had both first and senior authors from high-income countries (HICs, n = 95, 24.4%), more than half of the papers had both first and senior authors from upper middle- income countries (upper MICs, n = 222, 57.2%), while less than 1% (n = 3) had first and senior authors exclusively from lower-income countries (LICs). Eleven percent (n = 41/388) of all papers were written without either first nor senior author being from the country studied, and 17 of them (41%) had both first and senior authors from the USA. Twenty-five (6%) of the papers had the first author and not the senior author from the country of focus, while six (2%) had the senior and not the first author from the country of interest. To overcome global health challenges such as burns, locally led research is imperative. The maximum benefit of HIC-LMIC collaborations is achieved when LMICs play an active role in leading the research. When LMICs direct the research being conducted in their country, the harm of inherently inequitable relationships is minimized.


Asunto(s)
Quemaduras , Países en Desarrollo , Humanos , Renta , Bibliometría , Organización Mundial de la Salud
20.
Nature ; 442(7103): 664-6, 2006 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-16900195

RESUMEN

In condensed matter, light propagation near resonances is described in terms of polaritons, electro-mechanical excitations in which the time-dependent electric field is coupled to the oscillation of charged masses. This description underpins our understanding of the macroscopic optical properties of solids, liquids and plasmas, as well as of their dispersion with frequency. In ferroelectric materials, terahertz radiation propagates by driving infrared-active lattice vibrations, resulting in phonon-polariton waves. Electro-optic sampling with femtosecond optical pulses can measure the time-dependent electrical polarization, providing a phase-sensitive analogue to optical Raman scattering. Here we use femtosecond time-resolved X-ray diffraction, a phase-sensitive analogue to inelastic X-ray scattering, to measure the corresponding displacements of ions in ferroelectric lithium tantalate, LiTaO(3). Amplitude and phase of all degrees of freedom in a light field are thus directly measured in the time domain. Notably, extension of other X-ray techniques to the femtosecond timescale (for example, magnetic or anomalous scattering) would allow for studies in complex systems, where electric fields couple to multiple degrees of freedom.

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