Rosenjeppesen0582
Pompe disease has a higher pGP (123,232) than earlier accepted (140,000). The pGP for Pompe disease was expectedly wide by population and consistent with previous reports based on newborn screening programs (approximately 110,000-130,000).
Pompe disease has a higher pGP (123,232) than earlier accepted (140,000). The pGP for Pompe disease was expectedly wide by population and consistent with previous reports based on newborn screening programs (approximately 110,000-130,000).
To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases.
Clinical data from 27 patients with confirmed mtDNA pathogenic variants were obtained from a database of 89 patients with suspected mitochondrial disease, registered from 2014 to 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy and molecular studies were analyzed.
Patients were 18 females and 9 males, with ages at onset ranging from 1week to 14years (median=4years). The clinical phenotypes were mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (
=11), Leigh syndrome (
=5), Kearns-Sayre syndrome (
=3), Chronic Progressive External Ophthalmoplegia (
=2), Leber hereditary optic neuropathy (n=2), myoclonic epilepsy associated with ragged-red fibers (
=1) and revers cases presented with classical phenotypes, being MELAS the most frequent. Applying classical molecular methods, it was possible to achieve a genetic diagnosis in 30% of the cases, suggesting that this is an effective first approach, especially for those centers from low-middle income countries, leaving NGS studies for those patients with inconclusive results.
Wearable robotic exoskeletons (WREs) have been globally developed to achieve gait reconstruction in patients with spinal cord injury (SCI). The present study aimed to enable evidence-based decision-making in selecting the optimal WRE according to residual motor function and to provide a new perspective on further development of appropriate WREs.
The current review was conducted by searching PubMed, Web of Science, and Google Scholar for relevant studies published from April 2015 to February 2020. Selected studies were analysed with a focus on the participants' neurological level of SCI, amount of training (number of training sessions and duration of the total training period), gait speed and endurance achieved, and subgroup exploration of the number of persons for assistance and the walking aid used among patients with cervical level injury.
A total of 28 articles (nine using Ekso, three using Indego, ten using ReWalk, one using REX, five using Wearable Power-Assist Locomotor) involving 228 patients werit reconstruction in patients with SCI, contributing to evidence-based device application and further development.
The present review reveals the current state of the clinical effectiveness of WREs for gait reconstruction in patients with SCI, contributing to evidence-based device application and further development.
Chondrons are composed of chondrocytes and the surrounding pericellular matrix (PCM) and function to enhance chondrocyte-mediated cartilage tissue engineering. This study aimed at investigating the potential effect of combined chondrocytes with chondrons on the production of proteoglycan and collagen-II (Col-2) and the repair of defective knee cartilage in rabbits.
Chondrocytes and chondrons were isolated from the knee cartilage of rabbits, and cultured alone or co-cultured for varying periods in vitro. Their morphology was characterized by histology. The levels of aggrecan (AGG), Col-2 and glycosaminoglycan (GAG) expression were quantified by qRT-PCR, Alcian blue-based precipitation and ELISA. The effect of combined chondrocytes with chondrons in alginate spheres on the repair of defective knee cartilage was examined in rabbits.
The isolated chondrocytes and chondrons displayed unique morphology and began to proliferate on day 3 and 6 post culture, respectively, accompanied by completely degenerated PCondrons and chondrocytes may be new therapeutic strategy for cartilage tissue engineering and repair of defective cartilage.
Trauma is the leading cause of death and disability worldwide, especially in the young population. Cardiac injuries are an independent predictor for a poor overall outcome after trauma. The aim of the present study was to analyze systemic inflammation as well as local cardiac inflammation after experimental limb-, neuro- and combined trauma in mice.
Male C57BL/6 mice received either a closed tibia fracture (Fx), isolated traumatic brain injury (TBI) or a combination of both (Fx+TBI). Control animals underwent sham procedure. After 6 and 24h, systemic levels of inflammatory mediators were analyzed, respectively. Locally, cardiac inflammation and cardiac structural alterations were investigated in left ventricular tissue of mice 6 and 24h after trauma.
Mice showed enhanced systemic inflammation after combined trauma, which was manifested by increased levels of KC, MCP-1 and G-CSF. Locally, mice exhibited increased expression of inflammatory cytokines (IL-1β, TNF) in heart tissue, which was probably meetabolism, which might be linked to increased systemic- and local cardiac inflammation after limb-, neuro- and combined trauma. These cardiac alterations might predispose individuals for secondary cardiac damage after trauma that might compromise cardiac function after TBI and long bone fracture.
Injuries to the head and extremities frequently occur after severe trauma. In our study, we analyzed the effects of closed tibia fracture, isolated TBI, and the combination of both injuries with regard to the development of post-traumatic secondary cardiac injuries.
Injuries to the head and extremities frequently occur after severe trauma. Larotrectinib In our study, we analyzed the effects of closed tibia fracture, isolated TBI, and the combination of both injuries with regard to the development of post-traumatic secondary cardiac injuries.
