PATHOGENIC VARIANTS WITHIN ACMG SECONDARY FINDINGS GENES IN 24,591 HEALTHY INDIVIDUALS USING CLINICAL EXOME SEQUENCING FOR CARRIER SCREENING

The leptin system during human endometrial receptivity and preimplantation development.

The leptin system is implicated in the regulation of body weight and reproductive function, acting at endocrine and paracrine levels. This ligand-receptor system is mandatory for embryonic implantation in rodents. Here, we investigate the expression pattern of total leptin receptor (OB-R(T)), the long form (OB-R(L)) and short isoforms HuB219.1 and HuB219.3 in the human endometrium. Furthermore, we studied leptin and OB-R(T) mRNA during human embryonic preimplantation development and the embryonic regulation of the endometrial OB-R(L). Leptin receptor expression and its isoforms increase in the luteal phase and peak in the late part. Leptin receptor was localized at the epithelial and glandu…

Exercise intensity progression for exercises performed on unstable and stable platforms based on ankle muscle activation.

Ankle sprains are a common sports injury. The literature focuses on the application of neuromuscular training for the improvement of balance, injury prevention and rehabilitation. However, there is a dearth of knowledge about the appropriate prescription of exercises using unstable platforms and surfaces. The purpose of this study was to devise an ankle rehabilitation or training program with exercise progression based on the extent of muscle activation, employing platforms with different levels of stability and additional resistance. A descriptive study of electromyography (EMG) during ankle exercises was performed with a convenience sample of healthy subjects. Forty-four subjects complete…

Study with surface electromyography, borg scale and rom upper trapezius, deltoid of the three portions (clavicular, acromial, spinal) and the latissimus dorsi muscle, before and after using a muscle activation technique (mat)

The pathologies located at shoulder can be caused by misuse or continued implementation of a sporting practice or physical activity. These pathologies are second position in the ranking of Traumatologics and Orthopedic Clinicals (Windt, Koes, De Jong & Bouter, 1995). Shoulder’s muscle injuries can occur when the arm is in a position that exceeds normal, this fact is repeated in sport, may be the repetition of the hand signal of the inductor problem (Kapandji, 2006). Given the importance of muscle function of the shoulder joint, along the existing boom of new techniques in the specific muscle activation has been carried out an experimental study using a " Test neuro proprioceptive response "…

A combined approach for gene discovery identifies insulin-like growth factor-binding protein-related protein 1 as a new gene implicated in human endometrial receptivity.

In the past, human endometrial receptivity has been investigated by chasing specific molecules throughout the menstrual cycle. Now the genomic approach allows us to investigate the hierarchical contribution of a high number of genes to a specific function. In this study, we analyzed differentially the gene expression pattern of 375 human cytokines, chemokines, and related factors, plus that of their receptors, in endometrial receptivity. To do this, we used a combined approach of human endometrium and cell lines. We have compared the gene expression pattern in receptive vs. prereceptive human endometria and contrasted the results with gene expression in the highly adhesive cell line (to JAR…

Core muscle activity in a series of balance exercises with different stability conditions

Literature that provides progression models based on core muscle activity and postural manipulations is scarce. The purpose of this study was to investigate the core muscle activity in a series of balance exercises with different stability levels and additional elastic resistance. A descriptive study of electromyography (EMG) was performed with forty-four healthy subjects that completed 12 exercises in a random order. Exercises were performed unipedally or bipedally with or without elastic tubing as resistance on various unstable (uncontrolled multiaxial and uniaxial movement) and stable surfaces. Surface EMG on the lumbar multífidus spinae (LM), thoracic multífidus spinae (TM), lumbar erec…

Human Endometrial Mucin MUC1 Is Up-Regulated by Progesterone and Down-Regulated In Vitro by the Human Blastocyst1

Expression of MUC1 in endometrial epithelium has been suggested to create a barrier to embryo attachment that must be lifted at the time of implantation. In this study, we investigated the hormonal regulation of human endometrial MUC1 in hormone replacement therapy cycles and in the human blastocyst. We also analyzed the embryonic regulation of MUC1 in human endometrial epithelial cells (EECs) during the apposition and adhesion phases of human implantation using two different in vitro models. Our results indicate that endometrial MUC1 mRNA and immunoreactive protein increase in receptive endometrium compared to nonreceptive endometrium. Human blastocysts express MUC1, as demonstrated by rev…

Gene polymorphisms and HLA-G expression in spontaneous abortions

Abstract Introduction HLA-G and HLA-E are claimed to play a role in establishing maternal–fetal immune tolerance and in maintaining pregnancy. The presence of polymorphism in the HLA-G gene could cause a deficient or excessive expression of the HLA-G and HLA-E molecules. These anomalies could eventually cause pregnancy losses. Materials and methods Clinical study. A total of 90 patients were included in this study. These patients suffered spontaneous abortions between weeks 6 and 11 of pregnancy. We have analysed the most important polymorphisms of the HLA-G gene through different genetic studies and HLA-G and HLA-E expression through immunostaining in human cytotrophoblast cells from first…

Development, validation and clinical use of an expanded pan-ethnic preconception carrier genetic screening test in assisted reproductive technology patients and donors

The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing.

BACKGROUND: Although uterine leiomyomas and leiomyosarcomas are considered biologically unrelated tumors, they share morphologic and histologic characteristics that complicate their differential diagnosis. The long-term therapeutic option for leiomyoma is laparoscopic myomectomy with morcellation, particularly for patients who wish to preserve their fertility. However, because of the potential dissemination of undiagnosed or hidden leiomyosarcoma from morcellation, there is a need to develop a preoperative assessment of malignancy risk. OBJECTIVE: Through an integrated comparative genomic and transcriptomic analysis, we aim to identify differential genetic targets in leiomyomas vs leiomyosa…

SAIMEF: una herramienta de análisis de imágenes

Este artículo tiene como objetivo presentar una herramienta, con dos sistemas de categorías validados previamente, para facilitar el análisis de las imágenes impresas en los libros de texto de Educación Física en la etapa de Educación Primaria. La herramienta es una aplicación php, denominada SAIMEF (Sistema de Análisis de Imágenes en Educación Física), que consta de dos sistemas de categorías para el análisis: SC-I para las imágenes en las que aparece la figura humana realizando actividad física y SC-II para el resto de las imágenes. Concretamente, en el SC-I se establecen tres dimensiones de análisis: características técnicas de la imagen (tipo de imagen, color y tamaño), características …