Search results for "Ilium"

2015

Purpose: The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1). Methods: The CytoTrapXR yeast two-hybrid system was used to screen a bovine retinal cDNA library. A novel interaction between AIPL1 and members of the family of EB proteins was confirmed by directed yeast two-hybrid analysis and co-immunoprecipitation assays. The localization of AIPL1 and the EB proteins in cultured cells and in retinal cryosections was examined by immunofluorescence microscopy and cryo-immunogold electron microscopy. Results: Yeast two-hy…

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

2007

Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…

Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.

2011

Background: Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnosis difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD. Material and methods: We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high…

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

2013

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101−1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated…

Autologous Iliac Bone Graft Compared with Biphasic Hydroxyapatite and Calcium Sulfate Cement for the Treatment of Bone Defects in Tibial Plateau Frac…

2019

Background Bone-graft substitutes are commonly used for the augmentation of traumatic bone defects in tibial plateau fractures. However, their clinical performance compared with that of autologous bone-grafting, the gold standard in bone defect reconstruction, still remains under debate. This study investigates the differences in quality of life, pain, and radiographic outcomes in the treatment of tibial plateau fracture-associated bone defects with either autologous bone grafts or a bioresorbable hydroxyapatite and calcium sulfate cement (CERAMENT BONE VOID FILLER [CBVF]; BONESUPPORT). Methods In this study, 135 patients with acute depression and split-depression fractures of the proximal …

Block iliac bone grafting enhances osseous healing of alveolar reconstruction in older cleft patients: A radiological and histological evaluation

2018

Background Older alveolar cleft patients (&12 years old) often have wide bone defect as well as teeth loss, resulting in poor osseous healing with conventional alveolar bone grafting (ABG). In this study, we investigated a surgical technique of block iliac bone grafting for the alveolar cleft reconstruction and evaluated the clinical and radiological outcomes of these cleft patients. Material and Methods Fifteen patients were included in this study. All cases received preoperative cone bean computed tomography (CBCT) scans for the alveolar cleft evaluation. Osseous outcomes of block iliac bone grafting were assessed at 1 week, 3- and 6-month postoperatively. Volume changes and bone resorpti…

Pyomyositis of the iliacus muscle complicated with septic sacroiliitis

2008

We report a rare case of pyomyositis of the iliacus muscle in a 29-year-old woman. After 2 weeks of adequate treatment, secondary septic sacroiliitis occurred, a complication that had not been described previously. Pyomyositis of the iliacus muscle must be considered in the differential diagnosis of acute pain in the hip region.

Myxofibroma of the maxilla. Reconstruction with iliac crest graft and dental implants after tumor resection

2010

Odontogenic fibromyxomas are benign odontogenic tumors of mesenchymal origin of rare presentation in the oral cavity, which exhibit locally aggressive behavior and are prone to local recurrence. The controversy has mainly been on therapeutic management with recommendations varying, depending on the clinical cases, from simple curettage of lesion to segmental bone resection. We present a case report describing the reconstruction of an osseous defect in the maxilla and the restoration with dental implants in a 32 year old female patient after radical surgical excision due to an odontogenic fibromyxoma with locally aggressive behavior. The primary reconstruction of maxillary discontinuity defe…

Data from: Effects of undergrowth removal and edge proximity on ground beetles and vascular plants in urban boreal forests

2019

Urban forests are regularly managed for human safety and aesthetic reasons, but they are crucial habitat for many species. Removals of undergrowth occur commonly in these forests, yet the ecological consequences of these operations are poorly understood. We sampled ground beetles (Coleoptera, Carabidae) and vascular plants along 20-m edge gradients in Finnish urban forests, in five stands treated 0.5−2.5 years earlier with undergrowth removal and in five untreated stands. We hypothesized that undergrowth removal and edge proximity would benefit opportunistic and open-habitat species, whereas shady-habitat species would be affected negatively. (1) Regarding carabids, diversity and evenness i…

The Proceedings of the Provincial Assemblies in Hispania during the Hadrian Period

2017

El presente trabajo es una puesta al día de la información que se conserva para la época de Adriano sobre las actuaciones de las asambleas provinciales en Hispania a través de las fuentes literarias y epigráficas: las dedicaciones realizadas o permitidas por la asamblea, los individuos objeto de los homenajes, el papel de las ciudades como elemento de cohesión en los territorios provinciales, así como las consultas que la institución hizo frente al Príncipe y las tareas especiales que encargó a algunos miembros de las élites locales. This paper is an update of the data preserved in the time of Hadrian on the proceedings of the provincial assemblies in Hispania, through literary and epigraph…