Transgenic lysyl oxidase homolog 1 overexpression in the mouse eye results in the formation and release of protein aggregates.

Sequence variants in LOXL1 coding for the secreted enzyme lysyl oxidase homolog 1 (LOXL1) associate with pseudoexfoliation (PEX) syndrome, a condition that is characterized by the deposition of extracellular fibrillar PEX material in the anterior eye and other parts of the body. Since the specific role of LOXL1 in the pathogenesis of PEX is unclear, and an increase in its expression was reported for early stages of PEX syndrome, we generated and studied transgenic mice with ocular overexpression of its mouse ortholog Loxl1. The chicken βB1-crystallin promoter was used to overexpress Loxl1 in the lenses of βB1-crystallin-Loxl1 transgenic mice.

Heterozygote Wdr36-deficient mice do not develop glaucoma.

There is an ongoing controversy regarding the role of WDR36 sequence variants in the pathogenesis of primary open-angle glaucoma (POAG). WDR36 is a nucleolar protein involved in the maturation of 18S rRNA. The function of WDR36 is essential as homozygous Wdr36-deficient mouse embryos die before reaching the blastocyst stage.

Shortening spinal column reconstruction through posterior only approach for the treatment of unstable osteoporotic burst lumber fracture: a case report.

Study Design: Case report.

Clinical Question: This study reports if shortening reconstruction procedure through posterior approach only can be used in osteoporotic unstable fracture as well as post-traumatic burst fracture.

Methods: An 80-year-old female patient with unstable burst osteoporotic fracture of L1 underwent posterior approach corpectomy and shortening reconstruction of the spinal column by non-expandable cages.

Role of major revision spine surgery in recurrent adjacent segment osteoporotic vertebral body fracture: a case report.

Study Design: Case report.

Clinical Question: To report the beneficial effects of kyphoplasty, cement augmentation and extension of posterior instrumentation in a patient with recurrent adjacent segment osteoporotic vertebral body fracture.

Methods: A 72-year-old lady underwent multiple revision spine surgeries for recurrent adjacent segment osteoporotic vertebral body fracture.

Beneficial effects following microsurgical decompression in an adult with congenital thoraco-lumbar kyphoscoliosis with spina bifida aperta and myelomeningocele: an interesting case report.

Study Design: Case report.

Clinical Question: To report successful surgical therapy for spinal canal stenosis in an adult patient with congenital thoraco-lumbar kyphoscoliosis with spina bifida aperta and myelomeningocele.

Methods: A 65-year-old woman with a history of congenital thoraco-lumbar kyphoscoliosis with spina bifida aperta and myelomeningocele presented with severe radicular pain and weakness in her left lower limb.

Core decompression combined with implantation of a demineralised bone matrix for non-traumatic osteonecrosis of the femoral head.

Introduction: Core decompression is the standard surgical procedure in the treatment of early stage non-traumatic osteonecrosis of the femoral head (ONFH). However, there is still a debate whether decompression in combination with supplementary augmentation by bone grafts, growth factors, or cell implementation is superior to conventional decompression alone. This study evaluated patients after core decompression combined with an augmentation by a demineralised bone matrix, and particularly aimed to report long-term conversion rates to total hip replacement (THR).

Intraoperative subcutaneous wound closing culture sample: a predicting factor for periprosthetic infection after hip- and knee-replacement?

Introduction: It is unknown whether intraoperative subcutaneous wound closing culture samples (WCCS) are useful to predict periprosthetic joint infection (PJI).

Method: Here we prospectively followed 167 out of a total of 175 consecutive patients with primary total hip (THR) or knee replacement (TKR) between 01/2002 and 12/2002 for a mean follow-up period of 5 years; of those patients, n = 159 (96.8%) underwent WCCS.

Expression of leptin, leptin receptor, and connective tissue growth factor in degenerative disk lesions in the wrist.

Purpose: The purpose of this study was to identify whether leptin and connective tissue growth factor (CTGF) occur in the degenerative fibrocartilage disk and whether cartilage cells express leptin receptors.

Methods: The study included 23 patients diagnosed with degenerative articular disk tears of the triangular fibrocartilage (TFC) (Palmer type 2C). Patients were divided into 2 groups based on ulna length: 1 group consisted of patients with an ulna-positive variance (group A), and the other group included patients with ulna-negative or -neutral variance (group B).

Nerve fiber staining investigations in traumatic and degenerative disc lesions of the wrist.

Purpose: Traumatic and degenerative disc lesions cause ulnar-sided wrist pain. To date, anatomical investigations of cadaver triangular fibrocartilage discs examining the innervation of the triangular fibrocartilage complex have found no evidence of nerve fibers in the healthy disc. In this study, we immunohistologically investigated biopsies from patients with either central traumatic or degenerative disc lesions, to determine the existence of nerve fibers.

Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.

Mutations in WD repeat domain 36 gene (WDR36) play a causative role in some forms of primary open-angle glaucoma, a leading cause of blindness worldwide. WDR36 is characterized by the presence of multiple WD40 repeats and shows homology to Utp21, an essential protein component of the yeast small subunit (SSU) processome required for maturation of 18S rRNA. To clarify the functional role of WDR36 in the mammalian organism, we generated and investigated mutant mice with a targeted deletion of Wdr36.

Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma.

Heterozygous mutations in PAX6 are causative for aniridia, a condition that is frequently associated with juvenile glaucoma. Defects in morphogenesis of the iridocorneal angle, such as lack of trabecular meshwork differentiation, absence of Schlemm's canal and blockage of the angle by iris tissue, have been described as likely causes for glaucoma, and comparable defects have been observed in heterozygous Pax6-deficient mice. Here, we employed Cre/loxP-mediated inactivation of a single Pax6 allele in either the lens/cornea or the distal optic cup to dissect in which tissues both alleles of Pax6 need to be expressed to control the development of the tissues in the iridocorneal angle.

Apoptotic pathways in degenerative disk lesions in the wrist.

Purpose: Degenerative articular disk perforations of the triangular fibrocartilage (TFC) of the wrist could result from chronic loading of the ulnocarpal joint. Apoptosis played a crucial role in fibrocartilage cell loss, and the purpose of this study was to clarify which apoptotic pathway was involved in the development of degenerative disk lesions. We also investigated whether ulna length played an etiologic role in the occurrence of fibrocartilage cell loss.

Sensitivity of notochordal disc cells to mechanical loading: an experimental animal study.

The immature disc nucleus pulposus (NP) consists of notochordal cells (NCs). With maturation NCs disappear in humans, to be replaced by chondrocyte-like mature NP cells (MNPCs); this change in cell phenotype coincidences with early signs of disc degeneration. The reasons for NC disappearance are important to understand disc degeneration, but remain unknown, yet.

Expression of TRAIL and death receptor DR4 in Palmer type 2 TFCC lesions.

Introduction: Degenerative articular disc perforations of the triangular fibrocartilage (TFC) of the wrist are characterized by fibrocartilage cell loss and are often associated with ulna-plus situations. Apoptosis has been found to play a crucial role in fibrocartilage cell loss, however, the molecular mechanism and mediators are still poorly understood.

Aim: The purpose of this study was to identify receptors to apoptosis in degenerative disc lesions.

Cartilage cell proliferation in degenerative TFCC wrist lesions.

Introduction: The central zone of the triangular fibrocartilage complex (TFCC) of the wrist is thought to be avascular and is generally considered to lack any healing potential.

Aim: The purpose of this study was to investigate, if cartilage cells of degenerative disc lesions possess any healing or proliferation potential and whether ulna length plays a significant role in the proliferation process.

Results: Cells positive for proliferating cell nuclear antigen (PCNA) were found in all specimens.

Clinical outcome of deep wound infection after instrumented posterior spinal fusion: a matched cohort analysis.

Study Design: Retrospective case control study.

Objective: Determine the impact of infection on clinical outcome in patients undergoing posterior spinal fusion surgery.

Summary Of Background Data: The outcome of patients treated for infection after spinal surgery is not well established because of variability in cohort identification, definition of infection, outcomes instrument, use of a control group, and/or sample size.

Ulnar shortening after TFCC suture repair of Palmer type 1B lesions.

Purpose: The objective of this study was to determine functional and subjective outcomes of an ulnar shortening procedure elected by patients who experienced persistent ulno-carpal symptoms following arthroscopic suture repair of a Palmer type 1B lesion. All patients had a dynamic ulna positive variance.

Methods: Five patients (3 males and 2 females) with arthroscopic repair of Palmer type 1B tears who subsequently underwent ulnar shortening were reviewed.

Elevated amounts of myocilin in the aqueous humor of transgenic mice cause significant changes in ocular gene expression.

Myocilin is a 55-57kDa secreted glycoprotein and member of the olfactomedin family, which is mutated in some forms of primary open-angle glaucoma. To assess the effects of elevated amounts of myocilin on aqueous humor outflow dynamics in an in vivo system, transgenic betaB1-crystallin-MYOC mice have been developed that strongly overexpress myocilin in their eyes. The transgenic overexpression of myocilin results in an almost five-fold increase of secreted normal myocilin in the aqueous humor of betaB1-crystallin-MYOC mice.

Incidence and distribution of blood vessels in punch biopsies of Palmer 1A disc lesions in the wrist.

Introduction: Although the partial excision of triangular fibrocartilage complex (TFCC) tears appears to be a clinically effective technique, little is known about the ability of the central disc tears to heal. Unlike peripheral tears, central tears do not have immediate access to blood supply. The purpose of this study was to examine the incidence and distribution of blood vessels in punch biopsies of symptomatic central TFCC tissue.

Subjective and functional outcome after revision surgery in carpal tunnel syndrome.

Introduction: In spite of carpal tunnel release's prevalent good postoperative results, the number of revision surgeries needed should not be underestimated. In this study, subjective and functional results after carpal tunnel revision surgery were determined.

Materials And Methods: Thirty-eight patients were examined approximately 2 years after their revision surgery of the carpal tunnel release.

Disc distraction shows evidence of regenerative potential in degenerated intervertebral discs as evaluated by protein expression, magnetic resonance imaging, and messenger ribonucleic acid expression analysis.

Study Design: An animal model of degeneration was used to determine the effects of disc distraction, and was evaluated with magnetic resonance imaging (MRI) as well as gene and protein expression levels.

Objective: To investigate gene expression and MRI effects of distraction.

Summary Of Background Data: Disc degeneration can result from hyper-physiologic loading.

[Controlled distraction as a therapeutic option in moderate degeneration of the intervertebral disc -- an in vivo study in the rabbit-spine model].

Aim: The aim of this study was to investigate the effects of temporary distraction on a degenerated intervertebral disc to characterize regenerative changes associated with disc distraction.

Method: New Zealand white rabbits (n = 32) were used for this experimental animal study. The rabbits were randomly assigned to one of five groups.

Changes in gene expression and protein distribution at different stages of mechanically induced disc degeneration--an in vivo study on the New Zealand white rabbit.

The objective of the study was to improve the biological understanding of degenerative disc disease using a rabbit model in which different stages of disc degeneration are induced by variation of the duration of loading with an external compression-device applying 2.4 MPa. Gene expression and protein distribution were analyzed in controls and after 1, 28, and 56 days of hyperphysiologic loading.

Transgenic studies on the role of optineurin in the mouse eye.

Mutations in the OPTN gene encoding for optineurin have been associated with primary open-angle glaucoma. The functional role(s) of optineurin in the normal and glaucomatous eye are unclear. As optineurin interferes with TNF-alpha mediated cell death in vitro, an involvement of optineurin in the regulatory pathways leading to apoptosis of retinal ganglion cells has been suggested.