Search results for "defect"
showing 10 items of 879 documents
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
2019
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…
Herpes Simplex I virus impairs regenerative outcomes of periodontal regenerative therapy in intrabony defects: a pilot study.
2011
Aim To evaluate the impact of herpesvirus type-1 and -2 on the clinical outcomes of periodontal regenerative procedures in isolated deep intrabony pockets, in an experimental population with no detectable periodontal pathogens. Materials and Methods Seventeen periodontal intraosseous defects in 17 moderate-to-advanced periodontitis patients were treated with regenerative therapy and amelogenins. Microbiological evaluation was performed at baseline (after the completion of initial therapy) and at 1 year to exclude the presence of periodontal pathogens. Herpesviruses-1 and -2 DNA were quantified in the pocket tissues associated to the intrabony defect using molecular assays. Clinical attachme…
A Putatively Functional Haplotype in the Gene Encoding Transforming Growth Factor Beta-1 as a Potential Biomarker for Radiosensitivity
2011
Purpose To determine whether genetic variability in TGFB1 is related to circulating transforming growth factor-β1 (TGF-β1) plasma concentrations after radiotherapy and to radiosensitivity of lymphoid cells. Patients and Methods Transforming growth factor-β1 plasma concentrations ( n = 79) were measured in patients 1 year after radiotherapy and chromosomal aberrations ( n = 71) ex vivo before therapy start. Furthermore, TGF-β1 secretion and apoptosis were measured in isolated peripheral blood mononuclear cells of 55 healthy volunteers. These phenotypes were analyzed in relation to five germline polymorphisms in the 5′ region of the TGFB1 gene. Because of high linkage disequilibrium, these fi…
Skull Bone Defects Reconstruction with Custom-Made Titanium Graft shaped with Electron Beam Melting Technology: Preliminary Experience in a Series of…
2017
Background: Cranioplasty represents a challenge in neurosurgery. Its goal is not only plastic reconstruction of the skull but also to restore and preserve cranial function, to improve cerebral hemodynamics, and to provide mechanical protection of the neural structures. The ideal material for the reconstructive procedures and the surgical timing are still controversial. Many alloplastic materials are available for performing cranioplasty and among these, titanium still represents a widely proven and accepted choice. Methods: The aim of our study was to present our preliminary experience with a “custom-made” cranioplasty, using electron beam melting (EBM) technology, in a series of ten patien…
Hepatitis B defective virus with rearrangements in the preS gene during chronic HBV infection.
1991
We have found a defective form of HBV2 in a HBsAg- and anti-HBe-positive patient with liver cancer. Viral deletions were identified in the preS coding region using PCR. The presence of deleted HBV forms was observed in serum, PBMC, and liver samples. After sequencing 12 clones were analyzed (subtype adr). In 9 out of 12 clones a 183-bp in-frame deletion was recorded in the preS1 region (2995 to 3177). Three out of 9 clones also yielded rearrangements of the preS2 N-terminal part. Four out of 9 showed numerous point mutations in the preS1 and preS2 sequence. In addition, 3 out of 12 clones, which did not show the 183-bp preS1 deletion were found to have small deletions and insertions in the …
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…
Maintenance of Class III Trifurcated Molars Versus Implant Placement in Regenerated Extraction Sockets: Long-Term Results of 2 Cases
2011
Studies to date have reached differing conclusions regarding the long-term prognosis of teeth with class III furcation involvement. Replacement of such teeth with implants could be an alternative. This report compares the treatment outcomes of 2 cases with similar disease progression: 1 treated by implant therapy and 1 maintained with nonsurgical periodontal treatment. Two patients with advanced chronic periodontitis and class III furcation involvement of all molars were treated. Case 1 received a conservative periodontal and antibiotic treatment, followed by 15 years of maintenance. In case 2, the molars were extracted and replaced with implants, and the implants were observed for 7 years.…
Mandibular Molar Root Resection Versus Implant Therapy: A Retrospective Nonrandomized Study
2009
AbstractSuccess rates for both periodontal and implant therapy are often dependent on site and tooth type. For periodontally involved mandibular molars, the decision to hemisect or to extract and place an implant is often complicated. The purpose of the present study was to evaluate the outcomes of the aforementioned treatment modalities for mandibular molars in a private practice setting. A retrospective chart review was performed. In one group of patients (n = 32), 56 mandibular first or first and second molars were treated by hemisection (Group H). A second group (n = 28) received 36 implants in the mandible to replace periodontally involved first or first and second molars (Group I). Al…
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
2003
Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…
Predicting the failure in distal femur fractures.
2018
Abstract Introduction The incidence of nonunion after fractures of the distal femur is up to 6%. The distal femoral nonunion is a disabling disease that needs complex steps in his treatment. Aim of our study is to find predicting factors of non-unions. Materials and methods We retrospectively analyzed 116 cases of distal femoral fractures and 20 cases of non-unions. In both surgeries we analyzed: accuracy of reduction, stability of fixation, hardware used, residual medial or lateral bone defect, use of autologous or heterologous bone grafts. Results Malreduction, particularly axial defect, associated with unbalanced fixation, and a medial cortical bone defect of greater or lesser extent wer…