Search results for " Dysplasia"
showing 10 items of 206 documents
Altered morphological and electrophysiological properties of Cajal-Retzius cells in cerebral cortex of embryonic Presenilin-1 knockout mice
2004
Mutations of Presenilin-1 are the major cause of familial Alzheimer's disease. Presenilin-1 knockout (PS1-/-) mice develop severe cortical dysplasia related to human type 2 lissencephaly. This overmigration syndrome has been attributed to the premature loss of Cajal-Retzius cells (CRcs), pioneer neurons required for the termination of radial neuronal migration. To elucidate the potential cellular mechanisms responsible for this premature neuronal loss, we investigated the morphological and electrophysiological properties of visually identified CRcs of wild-type (WT) and PS1-/- mouse brains at embryonic day 16.5. The density of CRcs was substantially reduced in the cerebral cortex of PS1-/-.…
Different T-cell Receptor (TCR) Zeta Chain Expression in Cervical Cancer and its Precursor Lesions
2006
OBJECTIVE Cervical cancer is associated with infection of epithelial cells with the human papillomavirus (HPV) type 16 and HPV18. A functional signalling machinery in T-cells is required in order to successfully fight and eradicate HPV16+ transformed epithelial cells. One of the key signalling molecules associated with the T-cell receptor (TCR) is the homodimeric zeta chain molecule. MATERIAL AND METHODS 28 formalin fixed und paraffin embedded samples of cervical tissue with cervical intraepithelial lesions CIN I (n = 3), CIN III (n = 7), invasive cervical carcinoma (CC) (n = 13) and normal cervical tissue (n = 5) has been evaluated for HPV-PCR und zeta chain immunohistochemistry. For immun…
Effectiveness of progestogens to improve perinatal outcome in twin pregnancies : an individual participant data meta-analysis
2015
Background In twin pregnancies, the rates of adverse perinatal outcome and subsequent long-term morbidity are substantial, and mainly result from preterm birth (PTB). Objectives To assess the effectiveness of progestogen treatment in the prevention of neonatal morbidity or PTB in twin pregnancies using individual participant data meta-analysis (IPDMA). Search strategy We searched international scientific databases, trial registration websites, and references of identified articles. Selection criteria Randomised clinical trials (RCTs) of 17–hydroxyprogesterone caproate (17Pc) or vaginally administered natural progesterone, compared with placebo or no treatment. Data collection and analysis I…
Is periapical surgery follow-up with only two-dimensional radiographs reliable? A retrospective cohort type sensitivity study
2021
Background Two-dimensional (2D) radiographic techniques are commonly used for assessing lesion prognosis after endodontic surgery. The present retrospective cohort study analyzes the sensitivity and ability of different radiographic techniques in obtaining area and volume measurements of periapical lesions. Material and Methods Preoperative and follow-up (6-48 months) periapical and panoramic radiographs (index test) and cone-beam computed tomography (CBCT) images (reference standard) were selected from an endodontic microsurgery database. Sensitivity was analyzed independently by two examiners. The areas of the 2D radiographic images and CBCT volumes were studied using Itk-Snap software an…
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
1999
SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …
The molecular changes driving the carcinogenesis in Barrett's esophagus: which came first, the chicken or the egg?
2013
Esophageal adenocarcinoma originates from columnar metaplastic epithelium of the distal esophagus. Various steps for this carcinogenetic process are known. Before the onset of high-grade dysplasia and adenocarcinoma, endoscopic surveillance is possible. However, because of the high cost of long-term surveillance, predictive factors for cancer are being evaluated to identify subjects with metaplasia who have a higher risk of developing malignancy. Molecular changes seem suitable for this purpose, but could require a high resource expenditure. While trying to identify the best predictive factors for cancer risk, molecular changes and differences in miRNA expression profile between the various…
Prosthetic rehabilitation of a young patient affected by Ectodermal Dysplasia with the new Eclipse Resin System
2012
Ectodermal dysplasia is a genetic disease caused by incorrect development of the epidermis and cutaneous adnexa (for example hair, nails and sweat glands). It is often associated with skeletal and dental development anomalies. The main clinical manifestations of these syndromes are hypotrichosis, hypohydrosis and hypodontia or anodontia. Polymethyl methacrylate (PMMA) is still the most frequently used material in denture bases, but it can lead to irritation, inflammation and allergic reactions in the oral mucosa, due to the release of residual monomers. This clinical report describes a case of Hypohydrotic Ectodermal Dysplasia, rehabilitated with removable dentures made with a new monomer-f…
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
2021
Abstract Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100 ) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2] . The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]…
Hypohidrotic Ectodermal Dysplasia with total anodontia: A case report
2011
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/ or permanent dentition. A case report illustrating the prosthetic rehabilitation of a seven year old boy with hypohidrotic ectodermal dysplasia associated with total anodontia is presented.
Dental implants in patients with oral mucosal alterations : an update
2010
Objective: To determine whether a series of diseases of the oral mucosa - Sjogren syndrome, ectodermal dysplasia, epidermolysis bullosa and lichen planus - reduce the survival rate of dental implants. Material and Method: A Medline search was carried out using the key words: "Sjogren syndrome", "ectodermal dysplasia", "epidermolysis bullosa", "lichen planus" and "dental implants", including those publications involving clinical series comprising more than one patient with the mentioned disorders and treated with dental implants, in the last 10 years. Results: The study included three articles involving patients with Sjogren syndrome subjected to dental implant treatment, representing a tota…