Search results for "ilium"
showing 10 items of 131 documents
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence…
1996
We have identified an 18 bp deletion in exon 49 of the type II procollagen gene (COL2A1) in a patient with Kniest dysplasia. The deletion is located at the very C-terminus of the helical domain and removes two of three Gly-Pro-Pro triplets at positions 1007-1012, which are thought to be involved in helix formation and stability. Morphological investigation of an iliac crest biopsy showed large inclusions in the endoplasmic reticulum of chondrocytes, reflecting impaired secretion of type II collagen. Electrophoretic analysis of collagens extracted from cartilage or synthesised by cultured chondrocytes showed that type II and also type XI procollagen molecules containing mutant alpha 1 (II) c…
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
2014
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia(1,2). How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth(3-5), whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation(6,7). Here we uncover a new subtype of OFD with severe microcephaly and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene. Concordant with the clinical overlap, C2CD3 colocalizes with OFD1 at the distal end of centrioles, and C2CD3 physically associates with OFD1. However, wh…
Tissue evacuated during joint replacement procedure as a source of mononuclear cells.
2017
Background Different cell populations from bone marrow were used in various clinical trials for cardiac diseases during last decade. Four clinical studies are ongoing in our institution and enroll patients with cardiac diseases, coronary disease, type 2 diabetes, and osteoarthritis. The density gradient is used to separate bone marrow mononuclear cells. Joint replacement procedures were associated with significant loss of tissue. Usually, excess tissue as bone marrow, peripheral blood and fat are removed to clean operation site. The aim of this study is to prove whether removed tissue during joint replacement procedure can be considered as a significant source of mononuclear cells. Methods …
Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy
2014
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in …
Alveolar graft in the cleft lip and palate patient: Review of 104 cases
2014
Introduction: Alveolar bone grafting is a vital part of the rehabilitation of cleft patients. The factors that have been most frequently associated with the success of the graft are the age at grafting and the pre-grafting orthodontic treatment. Objectives: 1) Describe the cases of alveolar bone grafts performed at the Maxilofacial Unit of Hospital Sant Joan de Déu, Barcelona (HSJD); and 2) Analyze the success/failure of alveolar grafts and related variables. Material and Methods: Descriptive retrospective study using a sample of 104 patients who underwent a secondary alveolar graft at the Craniofacial Unit of HSJD between 1998 and 2012. The graft was done by the same surgeon in all patient…
Evaluation of ultrasound transmission velocity and 3-dimensional radiology in different bone types for dental implantology: a comparative ex vivo stu…
2013
Objective To evaluate ultrasound transmission velocity (UTV) for assessment of mechanical bone quality, an ex vivo comparison of different bone types measured with UTV, 2-dimensional (2D) histomorphometry and with 3-dimensional (3D) radiology (cone-beam computerized tomography [CBCT], computerized microtomography [μCT]) was conducted. Study Design Clinical cortical, cancellous, and mixed bone (each n = 6) was measured via UTV (m/s), CBCT (white pixel/black pixel ratio [WP/BP]), μCT (bone volume/total volume [μBV/TV]), and histomorphometry (bone volume/total volume [hBV/TV]). UTV values were correlated with 2D-histomorphometry and 3D-radiologic results. Results For the cortical, cancellous, …
Identification of an Unknown Corpse by Means of Computed Tomography (CT) of the Lumbar Spine
1995
For the first time, a case is described in which an unknown corpse is identified by the comparison of antemortem and postmortem computed tomographic (CT) images. A posterolateral disc herniation at L5-S1 on the right side, Schmorl's nodes and a lucency in the ilium were found in identical locations in each case. Additionally there were characteristic morphological similarities in the vertebral bodies, spinous processes, transverse processes and neural arches. In CT identification, as in conventional radiographic identification, one must try to reproduce comparable scanning conditions and images because apparent differences in the roentgenological morphology can occur as a result of differen…
Relation between bone quality values from ultrasound transmission velocity and implant stability parameters--an ex vivo study.
2011
Aim The objective of this study was to determine the relationship between bone qualities measured by ultrasound transmission velocity (UTV) and primary implant stability parameters measured by radiofrequency analysis (RFA) and push-out test (POT) in an ex-vivo model. Materials and methods Three blocks of fresh porcine bone samples were obtained from different anatomic regions, correlating to cortical, mixed and cancellous bone. Mechanical bone qualities of these samples were measured using UTV (expressed in m/s) prior to implantation. Three similar implants (4.1 × 11 mm, AstraTech OS) were inserted into each of the procured bone blocks. The evaluation of implant-bone interface stability was…
Ultracytochemical localization of Ca2(+)-ATPase activity in the middle ear mucosa of the guinea pig.
1989
Ca2(+)-ATPase activity was studied ultra-cytochemically in the middle ear mucosa of the guinea pig. On electron microscopic examination, the most intense reaction was found on the microvilli. Reaction products were also observed on the cilia and around and between the secretory granules on the apical side of the cells in their secretory phase. The basolateral membranes contained few reaction products, while very little or no activity was found on the basal membrane.
Evidence for Myosin VIIa-Driven Transport of Rhodopsin in the Plasma Membrane of the Photoreceptor-Connecting Cilium
2007
Defects in the gene encoding for the unconventional myosin VIIa leads to human Usher syndrome 1B, the most common form of hereditary combined blindness and deafness. To determine cellular function of myosin VIIa, we have investigated the subcellular localization of myosin VIIa in spacial relation relationship to potentially interacting proteins in mammalian photoreceptor cells. Western blot analysis of the axonemal fraction of photoreceptor cells by Western blot show that myosin VIIa and actin, as well as opsin, were present in the ciliary portion of the photoreceptors. Improved immunoelectron microscopy revealed that in mammalian photoreceptor cells, myosin VIIa was localized at the membra…