Search results for "Alate"
showing 10 items of 695 documents
Intercalated cells as a probable source for the development of renal oncocytoma
1988
Renal oncocytoma is a distinct type of epithelial tumor said to arise from the collecting duct system. Here we show that in nine of ten oncocytomas the tumor cells expressed an analog of the erythrocyte anion exchanger band 3. In the normal kidney band 3 is confined to the basolateral surface of the majority of intercalated cells which comprise up to 50% of the cortical collecting duct epithelium. Carbonic anhydrase c is another protein abundant in intercalated cells, and this was also expressed in six of the ten oncocytomas investigated. Immunoreactivity specific for band 3 and carbonic anhydrase c was not detected in any of the 20 renal cell carcinomas examined. At favourable section plan…
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
New insights into the cellular makeup and progenitor potential of palatal connective tissues
2017
The present study investigated the regenerative potential of connective tissues harvested from two palatal areas widely used as donor sites for muco-gingival surgical approaches. Connective tissue grafts (CTGs) were obtained by de-epithelialisation of a free gingival graft (deCTG) and by a split flap approach from a previous donor site (reCTG). Two types of mesenchymal stem cell (MSCs) were isolated and were named de-epithelialised MSCs (deMSCs) and re-entry MSCs (reMSCs). The cells were characterised and cellular functionality was investigated. CTGs were evaluated using immunohistochemical and ultrastructural approaches. No significant differences were observed regarding the frequency of c…
The impact of orthognathic surgery on quality of life in individuals with oral clefts
2021
Summary Background/objectives To evaluate the relationships between individual, environmental, clinical factors and oral health-related quality of life (OHRQoL) in patients with cleft lip and palate (CLP) following orthognathic surgery. Materials and methods A follow-up study was conducted involving 69 adults with unilateral and bilateral CLP under orthodontic treatment. Interviews and oral examinations were conducted prior to orthognathic surgery (T0) to evaluate age, gender, psychological well-being, dental caries, malocclusion, social support, social networks, family income and education and OHRQoL. All participants were reviewed after 6 months (T1) to re-assess psychological well-being,…
Bone-to-implant contact of orthodontic implants in humans--a histomorphometric investigation
2008
The purpose of the present study was to evaluate the percentage of direct bone-to-implant contact (BIC) of orthodontic anchorage implants (Orthosystem) after active orthodontic treatment. Twenty orthodontic implants (diameter, 3.3 mm; length, 4 or 6 mm) were inserted for orthodontic anchorage in different anatomical regions of 18 adult patients (nine males, nine females) aged 18-63 years. Fifteen implants (one per patient) were placed in the mid-palatal area, one implant (one patient) in the retromolar area of the mandible, one in the retromolar area and the mid-palatal area (one patient), and two (bilaterally, one patient) in the zygomatic area. The duration of the unloaded healing period …
Risk assessment of exposure to phthalates in breastfeeding women using human biomonitoring
2020
In this study, we assessed the presence of 14 phthalate metabolites in the urine of 104 lactating mothers from Valencia (Spain) who took part in the human biomonitoring project BETTERMILK. Nine of the metabolites studied showed detection frequencies >80%, whereas the rest of the metabolites presented low detection frequencies (<5%). The concentrations ranged from <LoQ to 1291 ng/mL with monoethyl phthalate showing the highest concentration, with a geometric mean of 34.90 ng/mL. In general, the phthalate metabolite levels quantified in the present study were lower than the urinary levels found in previous studies that involved lactating mothers. The consumption of packaged juices and the fre…
Unilateral laryngeal and hypoglossal paralysis (Tapia's syndrome) in a patient with an inflammatory pseudotumor of the neck
2012
Tapia’s syndrome (TS) is a rare condition thought tobe causedby njury to the extracranial course of both recurrent laryngeal branch f the vagal nerve and hypoglossal nerve. First described in 1904, t occurs with unilateral paralysis of the vocal cord and tongue, ith normal function of the soft palate. Commonly reported causes re direct trauma, neurofibromatosis of X and XII nerves, carotid rtery dissection involving the ascending pharyngeal artery, and isplacement of endotracheal tube during general anesthesia [1].
Cephalometric measurements from 3D reconstructed images compared with conventional 2D images
2011
Abstract Objective: To assess whether the values of different measurements taken on three-dimensional (3D) reconstructions from cone-beam computed tomography (CBCT) are comparable with those taken on two-dimensional (2D) images from conventional lateral cephalometric radiographs (LCRs) and to examine if there are differences between the different types of CBCT software when taking those measurements. Material and Methods: Eight patients were selected who had both an LRC and a CBCT. The 3D reconstructions of each patient in the CBCT were evaluated using two different software packages, NemoCeph 3D and InVivo5. An observer took 10 angular and 3 linear measurements on each of the three types o…
Biochemical composition of salivary stones in relation to stone-and patient-related factors
2018
Background Salivary stones are calcified structures most often found in the main duct of the submandibular or parotid salivary gland. They contain of a core surrounded by laminated layers of organic and inorganic material. Material and Methods Submandibular and parotid sialoliths (n=155) were collected at the department of Oral and Maxillofacial surgery of a general hospital between February 1982 and September 2012. The weight of the sialoliths was determined and the consistency was subjectively classified. Subsequently, the biochemical composition of the stones was determined by wet chemical methods or FT-IR spectrometry. Age and gender of the patients were retrieved from their medical rec…