Search

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

We made osteotomies in the condylar neck in 12 adult sheep to simulate fractures, and joined the two ends with 2 poly(D,L)lactide (PDLLA) plates and 8 PDLLA screws 2mm in diameter. The animals were killed after 2, 6, and 12 months and bony healing was assessed macroscopically and histologically. The plates and screws remained intact and there was no displacement of the bony ends. The degrading plates, which were still visible in the specimens after 6 months, had been replaced by bone. At 12 months the PDLLA had been resorbed with no foreign body reaction and no resorption of underlying bone. The articular discs showed no signs of degeneration.

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

This paper presents the application and evaluation of high-level synthesis (HLS) tools for a complex video processing algorithm. As case study predictive block-based motion estimation is chosen. The hardware implementation of the algorithm is introduced, and the implementation using HLS tools is presented, including various tips and pitfalls. The resulting HLS generated code is compared to a hand-coded version in terms of performance and resource requirements by synthesizing both versions for a Virtex-7 FPGA, and also in terms of implementation time and code length and readability. The results show that the processing performance is comparable and the required resources are acceptable for current FPGAs for an HLS-based implementation. Finally, recommendations are given for which parts of the motion estimation algorithm the HLS-based approach is preferable, and which parts should be implemented manually, allowing a prognosis for further video processing algorithms.

Both the major and minor salivary glands are the sources of saliva, a fluid vital for the maintenance of a healthy oral cavity. Here, the expression profiles of human submandibular (SMG) and labial glands (LG) were compared by RT-PCR analysis of laser microdissected mucous and serous cells, respectively. The focus was on trefoil factor family (TFF) genes, but also other genes encoding secretory proteins (mucins, lysozyme, amylase, statherin, and histatins) or aquaporin 5 were included. Immunofluorescence studies concerning TFF1-3, FCGBP, amylase, and lysozyme are also presented. It was shown that LGs clearly contain serous cells and that these cells differ in their expression profiles from serous SMG cells. Furthermore, all three TFF peptides, together with MUC5B, MUC7, MUC19, and FCGBP, were clearly detectable in mucous acini of both LGs and SMGs. In contrast, lysozyme was differentially expressed in LGs and SMGs. It can be expected that labial saliva may play a particularly important role for protecting the teeth.

It is becoming increasingly evident that cancer constitutes a group of diseases involving altered stem-cell maturation/differentiation and the disturbance of regenerative processes. The observed malignant transformation is merely a symptom of normal differentiation processes gone astray rather than the primary event. This review focuses on the role of cancer stem cells (CSCs) in three common but also relatively under-investigated cancers: head and neck, ovarian, and testicular cancer. For didactic purpose, the physiology of stem cells is first introduced using hematopoietic and mesenchymal stem cells as examples. This is followed by a discussion of the (possible) role of CSCs in head and neck, ovarian, and testicular cancer. Aside from basic information about the pathophysiology of these cancers, current research results focused on the discovery of molecular markers specific to these cancers are also discussed. The last part of the review is largely dedicated to signaling pathways active within various normal and CSC types (e.g. Nanog, Nestin, Notch1, Notch2, Oct3 and 4, Wnt). Different elements of these pathways are also discussed in the context of therapeutic opportunities for the development of targeted therapies aimed at CSCs. Finally, alternative targeted anticancer therapies arising from recently identified molecules with cancer--(semi-)selective capabilities (e.g. apoptin, Brevinin-2R) are considered.

d a urgically assisted rapid palatal expansion (SARPE) is n efficient method for the treatment of transverse axillary deficiencies in skeletal mature patients. Alhough this technique has a low morbidity using the raditional orthodontic appliances like Hyrax-screws, his may be accompanied by undesired effects such as uccal tooth tipping or extrusion, gingiva recessions, oot resorption, or bone fenestration. Because the ppliances are fixed to the teeth, therefore transmiting forces directly on the teeth and supporting bone. hese problems will not occur if a bone supported alatal distractor is used. The aim of the article is to resent a new developed palatal distractor for SARPE ith an epimucosal fixation.

The method and first results of transversal expansion with a palatal distractor in adolescents and adults with transverse maxillary deficiencies are presented. In ten patients with a mean age of 25.8 years, a newly developed distractor was applied for bone-borne expansion of the two halves of the maxilla following osteotomy of the lateral walls of the maxillary sinuses and the midpalatal suture. After a 3-week distraction period, mean changes of 8.8 mm in intercanine distance (ICD), 8.6 mm in anterior dental arch width (ADA), and 8.3 mm in posterior dental arch width (PDA) were registered. 6 months after the subsequent multibracket appliance therapy, these values were found to be largely constant. Because of the short treatment period, the absence of relapses, and the handling simplicity for the patient, this method is recommended for clinical application.