Mosaic isochromosome xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract

La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient

Bilateral Hip Arthroplasty: When Is It Safe to Operate the Second Hip? A Systematic Review

Introduction. Patients with degenerative hip disease frequently present with bilateral involvement that requires surgical management. The main goal when treating these patients is to achieve the maximum efficiency without increasing risk of perioperative complications; therefore, the decision regarding the best moment to operate the second hip becomes relevant. Although studies have addressed this topic, whether a simultaneous or staged surgery should be performed remains controversial. The purpose of this study was to determine, based on available evidence, the optimum strategy in terms of safety to operate the second hip in patients with bilateral involvement. Materials and Methods. A meta-analysis was planned. A systematic review of the literature was performed including clinical trials or observational analytical studies comparing the safety of bilateral arthroplasty performed simultaneously or staged by measuring major and minor complications. The appropriateness of a meta-analysis was evaluated through the detailed analysis of the risk of bias and clinical heterogeneity of the included studies. Results. Thirteen studies were selected after the systematic review. A wide variability in the methodological designs was found with a critical risk of bias in most of them. Considerable heterogeneity was detected in defining staged surgery in the cointerventions and how the outcomes were defined and measured. In response to these findings, a meta-analysis was considered not appropriate. The results showed no differences in the risk of mortality or systemic complications in young and healthy patients between simultaneous or staged surgeries. However, increased risk of complications for staged surgeries performed during the same hospitalization was observed. Conclusions. Available evidence is very heterogeneous and the quality of evidence is low. The available evidence supports the performance of simultaneous hip arthroplasty in selected patients (not older than 65 years, ASA 1-2, without cardiovascular comorbidities) and suggests the avoidance of staged surgeries within the same hospitalization

Unbalancing Zur (FurB)-mediated homeostasis in Anabaena sp. PCC7120: Consequences on metal trafficking, heterocyst development and biofilm formation

Zinc is required for the activity of many enzymes and plays an essential role in gene regulation and redox homeostasis. In Anabaena (Nostoc) sp. PCC7120, the genes involved in zinc uptake and transport are controlled by the metalloregulator Zur (FurB). Comparative transcriptomics of a zur mutant (Δzur) with the parent strain unveiled unexpected links between zinc homeostasis and other metabolic pathways. A notable increase in the transcription of numerous desiccation tolerance-related genes, including genes involved in the synthesis of trehalose and the transference of saccharide moieties, among many others, was detected. Biofilm formation analysis under static conditions revealed a reduced capacity of Δzur filaments to form biofilms compared to the parent strain, and such capacity was enhanced when Zur was overexpressed. Furthermore, microscopy analysis revealed that zur expression is required for the correct formation of the envelope polysaccharide layer in the heterocyst, as Δzur cells showed reduced staining with alcian blue compared to Anabaena sp. PCC7120. We suggest that Zur is an important regulator of the enzymes involved in the synthesis and transport of the envelope polysaccharide layer, influencing heterocyst development and biofilm formation, both relevant processes for cell division and interaction with substrates in its ecological niche

FurC (PerR) from Anabaena sp. PCC7120: a versatile transcriptional regulator engaged in the regulatory network of heterocyst development and nitrogen fixation

FurC (PerR) from Anabaena sp. PCC7120 was previously described as a key transcriptional regulator involved in setting off the oxidative stress response. In the last years, the cross-talk between oxidative stress, iron homeostasis and nitrogen metabolism is becoming more and more evident. In this work, the transcriptome of a furC-overexpressing strain was compared with that of a wild-type strain under both standard and nitrogen-deficiency conditions. The results showed that the overexpression of furC deregulates genes involved in several categories standing out photosynthesis, iron transport and nitrogen metabolism. The novel FurC-direct targets included some regulatory elements that control heterocyst development (hetZ and asr1734), genes directly involved in the heterocyst envelope formation (devBCA and hepC) and genes which participate in the nitrogen fixation process (nifHDK and nifH2, rbrA rubrerythrin and xisHI excisionase). Likewise, furC overexpression notably impacts the mRNA levels of patA encoding a key protein in the heterocyst pattern formation. The relevance of FurC in these processes is bringing out by the fact that the overexpression of furC impairs heterocyst development and cell growth under nitrogen step-down conditions. In summary, this work reveals a new player in the complex regulatory network of heterocyst formation and nitrogen fixation

2-oxoglutarate modulates the affinity of FurA for the ntcA promoter in Anabaena sp. PCC 7120

2-oxoglutarate (2-OG) is a central metabolite that acts as a signaling molecule informing about the status of the carbon/nitrogen balance of the cell. In recent years, some transcriptional regulators and even two-component systems have been described as 2-OG sensors. In the nitrogen-fixing cyanobacterium Anabaena sp. PCC 7120, two master regulators, NtcA and FurA, are deeply involved in the regulation of nitrogen metabolism. Both of them show a complex intertwined regulatory circuit to achieve a suitable regulation of nitrogen fixation. In this work, 2-OG is found to bind FurA, modulating the specific binding of FurA to the ntcA promoter. This study provides evidence of a new additional control point in the complex network controlled by the NtcA and FurA proteins

Gestational exercise increases male offspring's maximal workload capacity early in life

Mothers' antenatal strategies to improve the intrauterine environment can positively decrease pregnancy-derived intercurrences. By challenging the mother-fetus unit, gestational exercise (GE) favorably modulates deleterious stimuli, such as high-fat, high-sucrose (HFHS) diet-induced adverse consequences for offspring. We aimed to analyze whether GE alters maternal HFHS-consumption effects on male offspring's maximal workload performance (MWP) and in some skeletal muscle (the soleus SOL and the tibialis anterior TA) biomarkers associated with mitochondrial biogenesis and oxidative fitness. Infant male Sprague-Dawley rats were divided into experimental groups according to mothers' dietary and/or exercise conditions: offspring of sedentary control diet-fed or HFHS-fed mothers (C-S or HFHS-S, respectively) and of exercised HFHS-fed mothers (HFHS-E). Although maternal HFHS did not significantly alter MWP, offspring from GE dams exhibited increased MWP. Lower SOL AMPk levels in HFHS-S were reverted by GE. SOL PGC-1α, OXPHOS C-I and C-IV subunits remained unaltered by maternal diet, although increased in HFHS-E offspring. Additionally, GE prevented maternal diet-related SOL miR-378a overexpression, while upregulated miR-34a expression. Decreased TA C-IV subunit expression in HFHS-S was reverted in HFHS-E, concomitantly with the downregulation of miR-338. In conclusion, GE in HFHS-fed dams increases the offspring's MWP, which seems to be associated with the intrauterine modulation of SM mitochondrial density and functional markers

Análisis Sistema de Gestión Ambiental ISO 14001:2015 Sector Floricultor – Caso de Estudio.

Cuadro contesto de la empresa, Imagen Ciclo de vida, cuadro de procesos entradas/salidas, matriz de aspectos e impactos ambientales, matriz de legislación ambiental,Este trabajo está orientado al análisis de cada uno de los procesos que se llevan a cabo para la producción de flores de exportación. Considerando cada una de las etapas, desde la planeación de la siembra, preparación del área para el proceso de producción, la cosecha y el producto final obtenido por la empresa, con el fin de evaluar el sistema de gestión ambiental, con base en la NTC ISO 14001:2015 Colombia actualmente ocupa el segundo puesto en la producción de flor a nivel mundial con aproximadamente 7.290 hectáreas sembradas de flor para exportación (DANE, 2020). Siempre ha sido reconocida por ser un país robusto en el sector agroindustrial, siendo el sector floricultor uno de los más fuertes a nivel internacional. Entre las flores más vendidas en el mundo se encuentran los lirios, ocupando el quinto lugar. Por medio de este estudio de caso, se plantea analizar los documentos del área ambiental de la finca La Carolina, de forma comparativa con la norma técnica internacional (NTC) registrando sus avances en la implementación del sistema gestión ambiental, basados en la ISO 14001:2015. Su estado actual y posibles mejoras aplicables al sector, implementando los principios de gestión del riesgo.This work is oriented to the analysis of each of the processes that are carried out for the production of export flowers. Considering each of the stages, from planting planning, preparing the area for the production process, harvesting and the final product obtained by the company, in order to evaluate the environmental management system, based on the NTC ISO 14001:2015 Colombia currently ranks second in flower production globally with approximately 7,290 hectares planted with export flower (DANE, 2020). It has always been recognized as a robust country in the agro-industrial sector, with the flowering sector being one of the strongest internationally. Among the best-selling flowers in the world are lilies, taking fifth place. Through this case study, it is proposed to analyze the environmental area documents of the La Carolina estate, in comparison with the international technical standard (NTC) recording its advances in the implementation of the environmental management system, based on ISO 14001:2015. Its current status and possible improvements applicable to the sector, implementing the principles of risk management

Benefits on Hematological and Biochemical Parameters of a High-Intensity Interval Training Program for a Half-Marathon in Recreational Middle-Aged Women Runners

(1) Background: half-marathon races are popular among recreational runners, with increases in participation among middle-aged and women. We aimed to determine the effects of two half-marathon training programs on hematological and biochemical markers in middle-aged female recreational runners; (2) Methods: ten women (40 ± 7 years) followed moderate intensity continuous training (MICT), based on running volume below 80% VO2max, and another ten women followed high intensity interval training (HIIT) at 80-100% VO2max, with less volume, and combined with eccentric loading exercise. Hematology, plasma osmolality, and plasma markers of metabolic status, muscle damage, inflammatory, and oxidative stress were measured before (S1) and after (S2) training and 24 h after the half-marathon (S3); (3) Results: both training programs had similar moderate effects at S2. However, the acute response at S3 induced different alterations. There was a greater decrease in cholesterol and triglyceride levels in MICT and reductions in markers of damage and inflammation in HIIT. Greater variability in some plasma markers at S3 in MICT suggests that there is inter-individual variability in the response to training; (4) Conclusions: HIIT led to better adaptation to the competition maybe because of the repeated exposure to higher oxygen consumption and eccentric loading exercise

Self-paced free-running wheel mimics high-intensity interval training impact on rats´ functional, physiological, biochemical, and morphological features

Free-running wheel (FRW) is an animal exercise model that relies on high-intensity interval moments interspersed with low-intensity or pauses apparently similar to those performed in high-intensity interval training (HIIT). Therefore, this study, conducted over a 12-weeks period, aimed to compare functional, thermographic, biochemical and morphological skeletal and cardiac muscle adaptations induced by FRW and HIIT. Twenty-four male Wistar rats were assigned into three groups: sedentary rats (SED), rats that voluntarily exercise in free wheels (FRW) and rats submitted to a daily HIIT. Functional tests revealed that compared to SED both FRW and HIIT increased the ability to perform maximal workload tests (MWT-cm/s) (45 ± 1 vs. 55 ± 2 and vs. 65 ± 2). Regarding thermographic assays, FRW and HIIT increased the ability to lose heat through the tail during MWT. Histochemical analyzes performed in tibialis anterior (TA) and soleus (SOL) muscles showed a general adaptation toward a more oxidative phenotype in both FRW and HIIT. Exercise increased the percentage of fast oxidative glycolytic (FOG) in medial fields of TA (29.7 ± 2.3 vs. 44.9 ± 4.4 and vs. 45.2 ± 5.3) and slow oxidative (SO) in SOL (73.4 ± 5.7 vs. 99.5 ± 0.5 and vs. 96.4 ± 1.2). HITT decreased fiber cross-sectional area (FCSA-mm2) of SO (4350 ± 286.9 vs. 4893 ± 325 and vs. 3621 ± 237.3) in SOL. Fast glycolytic fibers were bigger across all the TA muscle in FRW and HIIT groups. The FCSA decrease in FOG fibers was accompanied by a circularity decrease of SO from SOL fibers (0.840 ± 0.005 vs. 0.783 ± 0.016 and vs. 0.788 ± 0.010), and a fiber and global field capillarization increase in both FRW and HIIT protocols. Moreover, FRW and HIIT animals exhibited increased cardiac mitochondrial respiratory control ratio with complex I-driven substrates (3.89 ± 0.14 vs. 5.20 ± 0.25 and vs. 5.42 ± 0.37). Data suggest that FRW induces significant functional, physiological, and biochemical adaptations similar to those obtained under an intermittent forced exercise regimen, such as HIIT

Performance of CMS muon reconstruction in pp collision events at sqrt(s) = 7 TeV

The performance of muon reconstruction, identification, and triggering in CMS has been studied using 40 inverse picobarns of data collected in pp collisions at sqrt(s) = 7 TeV at the LHC in 2010. A few benchmark sets of selection criteria covering a wide range of physics analysis needs have been examined. For all considered selections, the efficiency to reconstruct and identify a muon with a transverse momentum pT larger than a few GeV is above 95% over the whole region of pseudorapidity covered by the CMS muon system, abs(eta) < 2.4, while the probability to misidentify a hadron as a muon is well below 1%. The efficiency to trigger on single muons with pT above a few GeV is higher than 90% over the full eta range, and typically substantially better. The overall momentum scale is measured to a precision of 0.2% with muons from Z decays. The transverse momentum resolution varies from 1% to 6% depending on pseudorapidity for muons with pT below 100 GeV and, using cosmic rays, it is shown to be better than 10% in the central region up to pT = 1 TeV. Observed distributions of all quantities are well reproduced by the Monte Carlo simulation.Comment: Replaced with published version. Added journal reference and DO