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排序方式: 共有237条查询结果,搜索用时 31 毫秒
1.
J M Mason D A Grande M Barcia R Grant R G Pergolizzi A S Breitbart 《Gene therapy》1998,5(8):1098-1104
A commonly encountered problem in orthopedics is bone and cartilage tissue injury which heals incompletely or without full structural integrity. This necessitates development of improved methods for treatment of injuries which are not amenable to treatment using current therapies. An already large and growing number of growth factors which play significant roles in bone remodeling and repair have been identified in the past few years. It is well established that bone morphogenic proteins induce the production of new bone and cartilage. An efficient method of delivery of these growth factors by conventional pharmacological means has yet to be elucidated. We wished to evaluate the use of retroviral vector-mediated gene transfer to deliver genes of therapeutic relevance for bone and cartilage repair. To determine the feasibility of using amphotropically packaged retroviral vectors to transduce primary rabbit mesenchymal stem cells of periosteal origin, primary periosteal cells were isolated from New Zealand white rabbits, transduced in vitro with a retroviral vector bearing both the nuclear localized lacZ marker gene and the neo(r) gene, and selected in G418. We used a convenient model for analysis of in vivo stability of these cells which were seeded on to polymer scaffold grafts and implanted into rabbit femoral osteochondral defects. The nuclear localized beta-galactosidase protein was expressed in essentially 100% of selected cells in vitro and was observed in the experimental explants from animals after both 4 and 8 weeks in vivo, while cells transduced with a retroviral vector bearing only the neo(r) gene in negative control explants showed no blue staining. We extended our study by delivering a gene of therapeutic relevance, human bone morphogenic protein 7 (hBMP-7), to primary periosteal cells via retroviral vector. The hBMP-7 gene was cloned from human kidney 293 cell total RNA by RT-PCR into a retroviral vector under control of the CMV enhancer/promoter. Hydroxyapatite secretion, presumably caused by overexpression of hBMP-7, was observed on the surface of the transduced and selected periosteal cells, however, this level of expression was toxic to both PA317 producer and primary periosteal cells. Subsequently, the strong CMV enhancer/promoter driving the hBMP-7 gene was replaced in the retroviral vector by a weaker enhancer/promoter from the rat beta-actin gene. Nontoxic levels of expression of hBMP-7 were confirmed at both the RNA and protein levels in PA317 producer and primary periosteal cell lines and cell supernatants. This work demonstrates the feasibility of using a gene therapy approach in attempts to promote bone and cartilage tissue repair using gene-modified periosteal cells on grafts. 相似文献
2.
Giulia Barcia Marlne Rio Zahra Assouline Coralie Zangarelli Charles-Joris Roux Pascale de Lonlay Julie Steffann Isabelle Desguerre Arnold Munnich Jean-Paul Bonnefont Nathalie Boddaert Agns Rtig Metodi D. Metodiev Benedetta Ruzzenente 《European journal of human genetics : EJHG》2021,29(3):533
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations. Compound heterozygous or homozygous missense and frameshift variants in the FARS2 gene, that encodes the mitochondrial phenylalanyl-tRNA synthetase, are commonly linked to either early-onset epileptic mitochondrial encephalopathy or spastic paraplegia. Here, we expand the genetic spectrum of FARS2-linked disease with three patients carrying novel compound heterozygous variants in the FARS2 gene and presenting with spastic tetraparesis, axial hypotonia and myoclonic epilepsy in two cases.Subject terms: Metabolic disorders, Mutation 相似文献
3.
Francisca Díaz‐González Manuel Parrón‐Pajares Ana Barcia‐Ramirez Karen E. Heath 《American journal of medical genetics. Part A》2020,182(4):628-631
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in BHLHA9 associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in BHLHA9: NM_001164405.1: c.[226A>T][269G>C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family. 相似文献
4.
García-Aguado R Gil F Barcia JA Aznar J Hostalet F Barberá J Grau F 《Anesthesia and analgesia》2000,90(4):894-898
We explored the effect of fibrin glue injection at the site of dural puncture on cerebrospinal fluid (CSF) leakage in a swine model. Pigs were subjected to a lumbar dural CSF puncture in the sitting position with a 17-gauge Tuohy needle. Fibrin glue 1.4 mL was injected through the same needle into the epidural space. Evans blue dye was infused through the cisterna magna 15 min later, and the appearance of dyed CSF through the skin puncture and along the needle trajectory to the dura was inspected and categorized. In seven of eight animals, the CSF leak was sealed with fibrin glue. Control animals were injected with 1.4 mL saline. A sham operation group of animals underwent cisternal dye infusion without a lumbar puncture. CSF pressure at the cisterna magna was recorded throughout the procedure. No significant differences in the leakage indicators were found between the fibrin glue-injected and sham-operated group, whereas both groups showed significant differences with respect to the control group. The fibrin glue seal was effective against CSF pressures of 24.5 [17-31] cm H(2)O. We conclude that percutaneously injected fibrin glue is effective in stopping CSF leaks after dural puncture in this animal model. IMPLICATIONS: In this swine study, we repaired a cerebrospinal fluid leak after a dural puncture by percutaneously injecting tissue adhesive. The technique of percutaneous injection of fibrin glue seems promising for the prophylaxis of headache associated with cerebrospinal fluid leakage, and may be an alternative to an epidural blood patch. 相似文献
5.
6.
Josué M. Avecillas‐Chasin Fernando Rascón‐Ramírez Juan A. Barcia 《Clinical anatomy (New York, N.Y.)》2016,29(4):481-492
The cortico‐basal ganglia and corticothalamic projections have been extensively studied in the context of neurological and psychiatric disorders. Deep brain stimulation (DBS) is known to modulate many of these pathways to produce the desired clinical effect. The aim of this work is to describe the anatomy of the main circuits of the basal ganglia using tractography in a surgical planning station. We used imaging studies of 20 patients who underwent DBS for movement and psychiatric disorders. We segmented the putamen, caudate nucleus (CN), thalamus, and subthalamic nucleus (STN), and we also segmented the cortical areas connected with these subcortical areas. We used tractography to define the subdivisions of the basal ganglia and thalamus through the generation of fibers from the cortical areas to the subcortical structures. We were able to generate the corticostriatal and corticothalamic connections involved in the motor, associative and limbic circuits. Furthermore, we were able to reconstruct the hyperdirect pathway through the corticosubthalamic connections and we found subregions in the STN. Finally, we reconstructed the cortico‐subcortical connections of the ventral intermediate nucleus, the nucleus accumbens and the CN. We identified a feasible delineation of the basal ganglia and thalamus connections using tractography. These results could be potentially useful in DBS if the parcellations are used as targets during surgery. Clin. Anat. 29:481–492, 2016. © 2016 Wiley Periodicals, Inc. 相似文献
7.
Tuberculous (TB) peritonitis is uncommon but may present at any age and socioeconomic group. We reviewed 14 patients with TB peritonitis diagnosed during a five year period (six were white and eight, Pacific Islanders). The mean age was 31 years (a range of three to 69 years). Symptoms, signs and laboratory and roentgenologic studies were not specific. Peritoneal tap and laparoscopic procedures gave positive results of Mycobacterium tuberculi in four of seven patients. Diagnosis was not suspected in two patients until autopsy. TB peritonitis was confirmed at exploratory laparotomy in the other eight patients. Several common misconceptions about TB peritonitis have been discussed and refuted. 相似文献
8.
9.
In a newborn baby with Hirshsprung's disease obstructive jaundice developed following prolonged parenteral nutrition. At laparotomy, thick inspissated bile was flushed from the biliary tree and prompt resolution of the jaundice followed. To our knowledge, this is the first reported case in which inspissated bile appeared to be a complication of total parenteral nutrition. Mechanical obstruction must be recognized as an extreme in the spectrum of total parenteral nutrition cholestasis. 相似文献
10.
Zygomycosis is a rare infection that should be suspected in any patient with a fulminant necrotizing cellulitis in an area recently covered with adhesive bandages or dressings. Early diagnosis and treatment are essential for patient survival. 相似文献