In vitro study of 2,3-dehydrosilybin and its galloyl esters as potential inhibitors of angiogenesis.

2,3-Dehydrosilybin exhibits substantial anticancer and antiangiogenic effects, which can be potentially improved by semi-synthetic modification such as esterification with gallic acid. The aim of this study was to examine the potential antiangiogenic effect of 2,3-dehydrosilybin and its galloyl esters (3-O-galloyl-2,3-dehydrosilybin; 7-O-galloyl-2,3-dehydrosilybin; 20-O-galloyl-2,3-dehydrosilybin and 23-O-galloyl-2,3-dehydrosilybin) and to determine which molecular mechanism could be responsible for their activity. The effect on cell proliferation, tube formation, signal transduction pathways (PI3K/Akt and ERK) and the cell cycle was studied in human microvascular endothelial cells (HMEC). The results showed that all compounds decreased the growth of HMEC, but the strongest effect was observed for 20-O-galloyl-2,3-dehydrosilybin at 5 µmol/l. In addition, at 5 and 10 µmol/l, this was the only compound that significantly inhibited HMEC tube formation. Based on an assessment of Akt and ERK1/2 expression, we suggest that 20-O-galloyl-2,3-dehydrosilybin influences the angiogenic process through the Akt pathway.

Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a common genetic subtype of intellectual disability (ID) remarkable for its constellation of congenital, developmental and later-onset features. Survival to adulthood is now the norm, and serious psychiatric illness is common in adults. However, little is known about the experiences and perceived needs of individuals with 22q11.2DS and their caregivers at time of transition from paediatric to adult models of care and beyond. METHOD: We administered a mail survey to 84 caregivers of adults with 22q11.2DS and 34 adult patients themselves, inquiring about medical and social services, perceived burden and major challenges in adulthood in 22q11.2DS. Standard quantitative and qualitative methods were used to analyse the responses. RESULTS: Fifty-three (63.1%) caregivers and 20 (58.8%) adults with 22q11.2DS completed the survey. Perceived burden was high, with psychiatric illness and/or behavioural issues considered the most challenging aspects of adulthood in 22q11.2DS by the majority of caregivers (70.0%) and many patients themselves (42.9%). Irrespective of the extent of ID and the presence or absence of other major features, caregivers expressed dissatisfaction with medical and social services for adults, including at time of transition from paediatric care. CONCLUSIONS: To our knowledge, this is the first study to examine the subjective experiences of adults with 22q11.2DS and their caregivers and to identify their perceived needs for services. Better awareness of 22q11.2DS and its later-onset manifestations, early diagnosis and treatment of psychiatric illness, additional support at time of transition and dedicated clinics for adults with 22q11.2DS may help to improve patient outcomes and reduce caregiver burden.

TRANSFAC: transcriptional regulation, from patterns to profiles.

The TRANSFAC database on eukaryotic transcriptional regulation, comprising data on transcription factors, their target genes and regulatory binding sites, has been extended and further developed, both in number of entries and in the scope and structure of the collected data. Structured fields for expression patterns have been introduced for transcription factors from human and mouse, using the CYTOMER database on anatomical structures and developmental stages. The functionality of Match, a tool for matrix-based search of transcription factor binding sites, has been enhanced. For instance, the program now comes along with a number of tissue-(or state-)specific profiles and new profiles can be created and modified with Match Profiler. The GENE table was extended and gained in importance, containing amongst others links to LocusLink, RefSeq and OMIM now. Further, (direct) links between factor and target gene on one hand and between gene and encoded factor on the other hand were introduced. The TRANSFAC public release is available at http://www.gene-regulation.com. For yeast an additional release including the latest data was made available separately as TRANSFAC Saccharomyces Module (TSM) at http://transfac.gbf.de. For CYTOMER free download versions are available at http://www.biobase.de:8080/index.html.

Fiberoptic endoscopic evaluation of swallowing in the pediatric population.

OBJECTIVE: To investigate the diagnostic and rehabilitative usefulness of routine fiberoptic endoscopic evaluation of swallowing (FEES) in the pediatric population. STUDY DESIGN: Prospective, consecutive, blinded. PATIENTS AND METHODS: Thirty pediatric inpatients from a large, urban, tertiary care teaching hospital participated. Their ages ranged from 11 days to 20 years (mean, 10 years and 4 months). In a random fashion, seven subjects were assessed with both videofluoroscopic evaluation of swallowing (VFES) and FEES and 23 subjects were assessed solely with FEES. Diagnosis of dysphagia was determined by spillage, residue, laryngeal penetration, and aspiration. Rehabilitative strategies, e.g., positioning and modification of bolus consistencies, were based on diagnostic findings. RESULTS: There was 100% agreement between the blinded diagnostic results and implementation of rehabilitative strategies for subjects randomly assigned to receive both VFES and FEES and for subjects who received solely FEES. Of the 23 subjects assessed solely with FEES, 13 of 23 (57%) exhibited normal swallowing and 10 of 23 (43%) exhibited dysphagia. The feeding recommendation for 4 of 10 subjects with dysphagia (40%) was for a non-oral diet because of aspiration. FEES allowed for specific feeding recommendations (i.e., bolus consistency modifications, positioning, and feeding strategies) to reduce aspiration risk in 6 of 10 subjects with dysphagia (60%). CONCLUSION: FEES can be used routinely to diagnose and treat pediatric dysphagia in the acute care setting.

Complete congenital bony syngnathia in a case of oromandibular limb hypogenesis syndrome.

Congenital fusion of the maxilla and mandible (syngnathia) is rare and can present in a wide range of severity from single mucosal bands (synechiae) to complete bony fusion (synostosis). Congenital synostosis of the mandible and maxilla is even less common than synechiae, with only 19 cases reported in the literature. Most of them have presented as an incomplete, unilateral fusion. Only three of the reported cases showed more extensive but still incomplete, intermaxillary bony fusion. We present a case of complete bony fusion of the maxilla and mandible associated with a cleft palate, hypoglossia, micrognathia, unilateral choanal atresia, and limb abnormalities as a feature of oromandibular limb hypogenesis syndrome. Details of operative management are presented.

Paradoxical vocal cord motion presenting as acute stridor.

We report the cases of two patients who presented with acute-onset stridor that did not respond to standard medical therapy. Both were eventually found to have paradoxical vocal cord motion (PVCM). The ED management of these patients is reviewed.

Pseudoaneursym of the external carotid artery after tonsillectomy. A rare complication.

Tonsillectomy is one of the most common major surgical procedures performed in children in the United States. Otolaryngologists should be cognizant of the potential complications associated with the procedure. We report a case of a pseudoaneurysm of the external carotid artery that developed in a boy after elective adenotonsillectomy for management of obstructive sleep symptoms.

Relationship of biopsy and final specimens in evaluation of tumor thickness in floor of mouth carcinoma.

A number of studies have suggested that tumor thickness may be a valuable prognostic indicator in the evaluation of head and neck cancers. This study examined the relationship between tumor thickness measured in preliminary biopsy specimens with the final specimens obtained in 31 patients with floor of mouth epidermoid carcinoma. There was a significant statistical correlation between biopsy and final specimens. The Pearson's product-moment correlation coefficient was 0.58, which corresponded to a significance level of P < .0005. The results of this study showed that those patients who had biopsies with a thickness less than or equal to 1 mm were likely to have final specimens with a thickness less than 2 mm. All patients with a thickness greater than 2 mm had a final specimen with a thickness greater than 3.5 mm. Modification of current biopsy techniques may result in values more predictive of final thickness measurements.

Fraser syndrome: a case report and review of the otolaryngologic manifestations.

Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities. These patients also frequently have malformations of the ears, nose and/or larynx. The diagnosis is usually made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Treatment is dependent on which malformations are present and genetic counseling is indicated. Prognosis is dependent on the severity of renal and laryngeal malformations.