Factors associated with embryo mosaicism: a systematic review and meta-analysis.

PURPOSE: Evaluate which factors are involved in the increased rate of mosaicism in embryos. METHODS: A systematic review and meta-analysis was performed. After an exhaustive search of the literature, a total of seven papers were included in the analysis. In addition, data collected from IVF cycles performed in our fertility clinic were also analysed. Day of biopsy, embryo quality, maternal and paternal age and seminal quality were the chosen factors to be studied. RESULTS: The results of the meta-analysis show that neither embryo quality nor seminal quality were related to mosaic embryo rate (OR: 1.09; 95% CI: 0.94-1.28 and OR: 1.10; 95% CI: 0.87-1.37, respectively). A positive association was observed for the variable "biopsy day" with embryos biopsied at day 6 or 7 having the highest rate of mosaicism (OR: 1.06; 95% CI: 1.01-1.11). In opposite to what happens with aneuploidy rate, which increases with maternal age, embryo mosaicism is higher in younger women (<34 years) rather than in older ones (≥34 years) (OR: 0.95; 95% CI: 0.92-0.98). However, for the "paternal age" factor, no association with mosaicism was found (OR: 1.04; 95% CI: 0.90-1.21). CONCLUSIONS: With the present study, we can conclude that the factors related to the presence of mosaicism in embryos are the embryo biopsy day and maternal age. The rest of the studied factors showed no significant relationship with mosaicism. These results are of great importance as knowing the possible causes leading to mosaicism helps to improve the clinical results of reproductive treatments.

Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing.

PURPOSE: To identify novel genetic variants responsible for meiotic embryonic aneuploidy. METHODS: A prospective observational cohort study that included 29 couples who underwent trophectoderm biopsies from 127 embryos and performed whole-exome sequencing (WES) between November 2019 and March 2022. Patients were divided into two groups according to the expected embryo aneuploidy rate based on maternal age. RESULTS: After variant filtering in the WES analysis of 58 patients/donors, five heterozygous variants were identified in female partners from the study group that had an impact on embryo aneuploidy. Additionally, a slowdown in embryo development and a decrease in the number of blastocysts available for biopsy were observed in the study group embryos. CONCLUSION: This study has identified new candidate genes and variants not previously associated with meiotic embryo aneuploidy, but which are involved in important biological processes related to cell division and chromosome segregation. WES may be an efficient tool to identify patients with a higher-than-expected risk of embryo aneuploidy based on maternal age and allow for individualized genetic counselling prior to treatment.

Identification of vaginal microbiome associated with IVF pregnancy.

The factors that cause a preterm birth (PTB) are not completely understood up to date. Moreover, PTB is more common in pregnancies achieved by in-vitro fertilization (IVF) than in spontaneous pregnancies. Our aim was to compare the composition of vaginal microbiome at 12 weeks of gestation between women who conceived naturally or through IVF in order to study whether IVF PTB-risk could be related to vaginal microbiome composition. We performed an observational, prospective and multicentre study among two public hospitals and a fertility private clinic in Spain. Vaginal swabs from 64 pregnant women at 12 weeks of gestation were collected to analyse the microbiome composition by sequencing the V3-V4 region of the 16S rRNA. Our results showed that the vaginal microbiome signature at 12 weeks of pregnancy was different from women who conceived naturally or through IVF. The beta diversity and the genus composition were different between both cohorts. Gardnerella, Neisseria, Prevotella, and Staphylococcus genus were enriched genus in the vaginal microbiome from the IVF group, allowing us to create a balance model to predict both cohorts. Moreover, at species level the L. iners abundance was higher and L. gasseri was lower in the IVF group. As a conclusion, our findings were consistent with a proposed framework in which IVF pregnancy are related to risk for preterm birth (PTB) suggesting vaginal microbiome could be the reason to the relation between IVF pregnancy and risk for PTB.

Is preoperative radiotherapy suitable for all patients with primary soft tissue sarcoma of the limbs?

AIM: To evaluate the indications and results of preoperative radiotherapy (RT) on a series of selected patients treated at our institution with curative intent for a limb sarcoma (STS). PATIENTS AND METHODS: From 05/1993 to 12/2011, 64 STS patients received preoperative RT. RESULTS: RT was delivered as a "limb salvage treatment" prior to surgery for the following reasons: as the preferential induction treatment in 53 patients (83%) or as a second intent (17%) after the failure of neoadjuvant systemic chemotherapy/isolated limb perfusion. Surgery was performed after RT in 54 (84%) patients and final limb salvage was performed in 98%. Musculo-cutaneous flap reconstruction was planned upfront in 44% patients, and 19% had a skin graft. Seven patients (13%) had a postoperative RT boost. Thirteen (20%) patients had grade (G) 3/4 adverse events, one after RT and 12 after surgery. At a median follow-up of 3.5 years, the 3-year actuarial overall survival (OS) and distant relapse (DR) rates were 83% and 31%, respectively. Two patients developed a local relapse and two a local progression (non-operated patients). In the multivariate analysis (MVA), histological subtype (leiomyosarcoma) and grade 3 were predictive of poorer survival. Patients with >3 month delay between the start of RT and surgery at our institution had an increased risk of DR in the MVA. CONCLUSION: Induction RT should be personalised according to histological subtype, tumour site and risks-benefit ratio of preoperative radiotherapy and is best managed by a multidisciplinary surgical and oncology team in a specialist sarcoma centre.

Modelos animales experimentales de enfermedad de hígado graso y síndrome metabólico / Experimental animal models of fatty liver disease and metabolic syndrome

Los estudios en modelos animales constituyen una valiosa herramienta para comprender los procesos fisiopatológicos asociados a la enfermedad del hígado graso, sus características histológicas y ensayo de nuevas terapias. Una gran parte de los trabajos se desarrollan en roedores (ratones y ratas principalmente), dada su similitud biológica con el hombre y el gran conocimiento que se tiene a todos los niveles (genético, molecular, enzimático…) de estas especies. Por su facilidad de desarrollar los procesos de esteatosis hepática también destacan las aves. En este trabajo se describen los principales modelos de enfermedad del hígado graso en diversas especies animales, y las formas de inducción de enfermedad. Básicamente, el excesivo acúmulo de grasa en hígado puede ser consecuencia de aporte elevado de grasa, aumento de la síntesis grasa, oxidación reducida, y/o reducción de su salida en forma de VLDL. Así, se describen modelos basados en alteraciones genéticas (animales transgénicos o bien mutaciones naturales) que incrementan la lipogénesis, otros que dificultan la eliminación de grasa hepática (genes que regulan la oxidación de ácidos grasos), inducción mediante dietas que dan lugar a obesidad (ricas en fructosa, sacarosa, grasas, dietas aterogénicas) o bien sin producir obesidad (dietas deficientes en arginina o ricas en fructosa y grasas), tóxicos que incrementan la lipogénesis hepática, o factores que disminuyen la oxidación de ácidos grasos (como dietas deficientes en colina o metionina, administración de estrógenos, glucocorticoides o ciertos tóxicos). Se describen por último modelos aviares inducidos por la dieta (AU)

Animal models are important tools for the study of fatty liver disease, mainly related to physiopathology, pathology and therapeutical trials. Most studies have been developed in rodents (usually in mice and rats), because of biological similarities with humans, and also because of the deep knowledge (genetics, molecular, enzymatic…) of these species. Hepatic steatosis is also easily developed in avian species. We describe the most used animal models of fatty liver disease, and the several means of disease induction. Basically, excessive fat accumulation in the liver can occur as a result of increased fat delivery, increased fat synthesis, reduced fat oxidation, and/or reduced fat export in the form of VLDL. Several animal models of hepatic steatosis are described: genetically engineered animals or spontaneous mutations, which increase lipogenesis; others show reduced fatty acid oxidation, and therefore interfere fat elimination; induction by diets producing obesity: high content in fructose, sacarose, fat, and atherogenic diets; induction by diets which don’t produce obesity (arginine deficient diets), toxic agents which increase hepatic lipogenesis, or factors inducing a decrease of fatty acid oxidation such as choline / methionine deficient diets, strogens and glucocorticoids administration, or toxic agents. Diet-induced avian models are also described (AU)

Plasma concentrations of beta-endorphin in smokers who consume different numbers of cigarettes per day.

The harmful effects of smoking on health have been widely documented, although it is as yet unclear whether tobacco dependence is only psychological in nature, or both psychological and physical. We studied plasma concentrations of beta-endorphin, cortisol, and adrenocorticotropic hormone (ACTH) in healthy persons who consumed different numbers of cigarettes per day, and compared the findings with those in a control group of nonsmokers. Beta-endorphin levels were significantly higher than in controls only in persons who smoked fewer than 10 cigarettes per day. Cortisol levels were significantly higher in smokers who consumed more than 20 cigarettes per day. There were no significant differences between any of the groups in plasma ACTH concentrations.

[Epidemiologic situation of tuberculosis under the influence of HIV in the health area of Ibiza and Formentera (1987-1993)]. / Situación epidemiológica de la tuberculosis bajo la influencia del VIH en el Area de Salud de Ibiza y Formentera (1987-1993).

OBJECTIVES: To analyse the epidemiology of Tuberculosis and determine the characteristics of patients infected by HIV vs those not infected. DESIGN: A descriptive-retrospective study. SETTING: Ibiza and Formentera Health Area. PATIENTS: 268 patients over 16 diagnosed with TB between 7/1/1987 and 12/31/1993. MEASUREMENTS AND MAIN RESULTS: The highest accumulated annual incidence was detected in 1989 (82.4/100,000 inhabitants), but had decreased considerably by 1993 (42.8/100,000). The proportion of HIV+ cases increased to 37.0% of the total in 1993. 75% of the total were male and 57.5% between 20 and 39 (x = 38.1; SD = 15.4). 63.1% had pulmonary TB, 60.8% producing bacilli, 19.8% were HIV+, of which 47.2% were intravenous drug users and 20.8% homosexuals. There was a 75.4% cure rate, 4.9% who left treatment and 16.1% lost during follow-up. CONCLUSIONS: During the study period a progressive increase in the proportion of cases with HIV infection was observed. Control and follow-up of Tuberculosis was more difficult in these patients.

Perfusion of trout liver in situ. Description and validation of the technique.

The aim of this study was to develop a method for perfusing isolated trout livers that would make it possible to study hepatic metabolism in the whole organ. Rainbow trout (Oncorhynchus mykiss Walbaum) subjected to different fasting periods of 24, 48 or 96 h were used in all the experiments. A non-recirculating system was applied at a flow rate of 0.2 mL/min. The perfusion medium was a specific saline solution for salmonids oxygenated by a multi-bulb glass oxygenator. Viability assays included the measurement of oxygen consumption, lactate dehydrogenase activity and liver metabolic capacity. In addition, a histological study was carried out. Our results showed that the metabolic capacity of the liver survived throughout the perfusion process and that the functioning of this organ changed depending on the length of the fasting period to which the animal had been submitted. The method described here was shown to be suitable for studying the intermediate metabolism of fish.

Human subcutaneous dirofilariasis caused by Dirofilaria repens in Ibiza, Spain.

A case of human subcutaneous dirofilariasis contracted in Ibiza, Spain is reported. An incomplete nematode extracted from the eyelid of a woman patient was identified on the basis of its anatomic and histologic characteristics as a nongravid adult female of the species Dirofilaria repens. The subcutaneous location of the worm, together with the epidemiologic data, support this finding.

Análisis estadístico sobre los accidentes por cuerpos extraños metálicos intraoculares, ocurridos en Cuba en el período 1968 a 1972 / Statistical analysis on accidents caused by foreign intraocular bodies in Cuba 1968-1972

Se analizan, desde el punto de vista estadístico, los accidentes intraoculares ocurridos por presencia de cuerpos extraños, con el objetivo de obtener algunas conclusiones de orden práctico que nos ayuden a reducir los índices de morbo-letalidad ocular. Se señala la profesión como causa influyente en la génesis de estos accidentes, fundamentalmente la de mecánico automotor por presentar la incidencia más alta. Se señala además, que el mecanismo de martillar hierro sobre hierro o sus modalidades, representa un peligro potencial de lesionar los ojos, sobre todo, cuando no está normada la protección para este tipo de actividad. Se demuestra con las cifras de ceguera unilateral y de las complicaciones precoces y tardías, que este accidente es uno de los más graves y más frecuente, por lo que se exponen algunas consideraciones de orden preventivo, a fin de disminuir la frecuencia de estos accidentes (AU)

Parálisis aislada del motor ocular común derecho por aracnoiditis interpeduncular

Se presenta un caso con parálisis del III par derecho, que se instala acompañada de dolor y vómitos. Se explora quirúrgicamente encontrándose una aracnoiditis interpeduncular que engloba y tira de dicho nervio, se libera y la paciente mejora rápidamente a partir de la operación hasta su curación total. 1. El tercer par puede afectarse en los procesos inflamatorios de la aracnoides, al igual que el II en las aracnoiditis optoquiasmática. 2. Las parálisis del III par craneal cuya etiología no se pueda precisar y que no mejoren con el tiempo pueden ser debidas a aracnoiditis interpeduncular. 3. Existe la posibilidad de operar estos casos con éxito (AU)