Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and gene deletion.

Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.

Draft Genome Sequence of a Red Basidiomycete Yeast, Symmetrospora coprosmae Strain UCD350, Isolated from Soil in Ireland.

is a red yeast from the subphylum Pucciniomycotina in the phylum Basidiomycota. Here, we present the first genome sequence of strain UCD350, from an isolate collected from soil in Ireland. The genome size is 20.

Characteristics of disease related to mesio-angular mandibular third molar teeth.

The aim of this study was to identify the indications for the removal of mesio-angular mandibular third molars based on age and dental health as measured by the DMFT (decayed, missing, and filled teeth) score, and to find out if early intervention should be considered. We studied 319 patients who had 431 mesio-angular mandibular third molars removed. Variables recorded were age, primary indication for removal, and the DMFT score.

The mesially impacted mandibular third molar: The incidence and consequences of distal cervical caries in the mandibular second molar.

Aims: Distal Cervical Caries (DCC) of the mandibular second molar (Md2M) is primarily related to retained mesially impacted third molars (Md3M). Treatment of this condition indicates the removal of the Md3M and the restoration of the Md2M and, on occasions, the loss of the Md2M. The aim of this study was to determine the incidence, treatment outcomes for patients, and calculate costs related to Md2M DCC.

Distal cervical caries in the mandibular second molar: an indication for the prophylactic removal of third molar teeth? Update.

In 2005 we reported the clinical findings of 100 patients who had mandibular third molars removed because of distal cervical caries in the mandibular second molar. The aim of this follow-up study was to find out whether the findings in a new group of patients corroborate those of our previous study. We report on the clinical features of 239 patients (mean (SD) age 32.

The effects of NICE guidelines on the management of third molar teeth.

Background: Third molar surgery (TMS) is probably one of the most commonly performed surgical procedures undertaken in the NHS. In 2000, the National Institute of Clinical Excellence (NICE) introduced guidelines relating to TMS. These recommended against the prophylactic removal of third molars and listed specific clinical indications for surgery.

High-resolution analysis of 3p deletion in neuroblastoma and differential methylation of the SEMA3B tumor suppressor gene.

Large-scale hemizygous loss of chromosome 3p is a common event in neuroblastoma, occurring preferentially in tumors that exhibit loss of chromosome 11q and lack MYCN amplification. Although numerous tumor suppressor genes (TSG) have been mapped to the 3p region, the gene or genes contributing to neuroblastoma pathogenesis have remained elusive. High-resolution oligonucleotide array CGH mapping of chromosome 3p breakpoints relative to the positions of known TSGs indicates that more than one gene may contribute to neuroblastoma pathogenesis.

Distal cervical caries in the mandibular second molar: an indication for the prophylactic removal of the third molar?

Aims: Distal cervical caries (DCC) in mandibular second molar teeth are responsible for the removal of up to 5% of all mandibular third molars. Our aim was to identify the clinical features of these patients.

Methods: We evaluated the records of 100 patients who had 122 mandibular third molars removed because of distal cervical caries in the second molar.

Multiple markers for melanoma progression regulated by DNA methylation: insights from transcriptomic studies.

The incidence of melanoma is increasing rapidly, with advanced lesions generally failing to respond to conventional chemotherapy. Here, we utilized DNA microarray-based gene expression profiling techniques to identify molecular determinants of melanoma progression within a unique panel of isogenic human melanoma cell lines. When a poorly tumorigenic cell line, derived from an early melanoma, was compared with two increasingly aggressive derivative cell lines, the expression of 66 genes was significantly changed.

Microarray analysis of phosphatase gene expression in human melanoma.

Background: Tyrosine phosphate is abnormally elevated in malignant melanoma, and this has been interpreted to reflect the activity of oncogenic protein tyrosine kinases. However, elevation may also arise due to decreased protein tyrosine phosphatase (PTP) expression.

Objectives: To survey phosphatase gene expression in melanoma cell lines, a benign naevus and normal melanocytes: we searched for downregulation of phosphatase gene expression in malignant cells that may indicate a role as melanoma suppressor genes.

Molecular cytogenetic analysis of recurrent unbalanced t(11;17) in neuroblastoma.

Loss of 11q material occurs in approximately 30% of advanced stage neuroblastoma and defines a distinct genetic subtype of this disease. These tumors almost always possess unbalanced gain of the 17q, along with many additional recurrent chromosomal imbalances. Loss of 11q and gain of 17q is often the consequence of an unbalanced translocation between the long arms of both chromosomes, but because of the involvement of other chromosomal mechanisms, the actual frequency of t(11;17) is unknown.

Evolution of unbalanced gain of distal chromosome 2p in neuroblastoma.

Neuroblastoma, one of the most common tumors of childhood, presents at diagnosis with a vast number of recurrent chromosomal imbalances that include hyperdiploidy for whole chromosomes, partial loss of 1p, 3p, 4p, 11q, 14q, partial gain of 1q, 7q, 17q and amplification of MYCN. These abnormalities are nonrandomly distributed in neuroblastoma as loss of 3p and 11q rarely occur in MYCN amplified neuroblastomas. Here, we report on a patient who had a non-MYCN amplified 3p-/11q- neuroblastoma at diagnosis who subsequently developed a high level of MYCN amplification in bone marrow metastases 41 months after induction of complete remission.

Oligonucleotide microarray analysis of gene expression in neuroblastoma displaying loss of chromosome 11q.

A number of distinct subtypes of neuroblastoma exist with different genetic abnormalities that are predicative of outcome. Whole chromosome gains are usually associated with low stage disease and favourable outcome, whereas loss of 1p, 3p and 11q, unbalanced gain of 17q and MYCN amplification (MNA) are indicative of high stage disease and unfavourable prognosis. Although MNA and loss of 11q appear to represent two distinct genetic subtypes of advanced stage neuroblastoma, a detailed understanding of how these subtypes differ in terms of global gene expression is still lacking.

Tyrosine phosphate in melanoma progression.

Background: Cellular tyrosine phosphorylation is regulated by two large families of enzymes. Protein tyrosine kinases (PTK) mediate addition, and protein tyrosine phosphatases (PTP), removal of phosphate from protein substrates. PTKs are oncogenes and PTPs have been hypothesized to function as tumour suppressor genes.

Protein tyrosine phosphatase genes downregulated in melanoma.

Phospho-tyrosine levels are increased in melanoma, apparently consistent with reports of elevated protein tyrosine kinase activity. Some protein tyrosine kinases are encoded by oncogenes and have been implicated in melanoma genesis. Decreased protein tyrosine phosphatase activity may also increase phospho-tyrosine.

Specialisation in oral surgery.

The 1994 report by the chief dental officer on specialist dental training in the UK focuses on the need for a more structured approach to post-graduate education and practice. As the report is designed to produce a broad choice of specialist dental services that will be based in the primary rather than the secondary care sector, specialist services will become more accessible to both the dental profession and patients.

Comparison of patient-controlled sedation with either methohexitone or propofol.

We studied 42 patients undergoing oral surgery under local anaesthesia with i.v. sedation, allocated randomly to receive either methohexitone (group M) or propofol (group P) for patient-controlled sedation (PCS).

Maxillary and mandibular reconstruction in preparation for endosseous implants.

Bony and soft tissue deficiencies can deter esthetic, functional and prosthetic rehabilitation. Modern surgical techniques using bone or composite grafts to reconstruct or augment implant sites are reviewed.

The effects of propofol and thiopentone on forearm circulation.

Some effects of propofol and thiopentone induction on the peripheral circulation of healthy patients are examined using mercury strain gauge venous occlusion plethysmography of the forearm. Results indicate that both drugs produce a statistically significant decrease in mean arterial blood pressure and forearm blood flow. Forearm vascular resistance remains unchanged after either drug.

Allergy to laboratory animals: a survey by questionnaire.

A survey carried out on a total of 1,487 individuals showed that, of the 585 who worked with laboratory animals, 19.5% developed moderate to severe allergic symptoms some time after starting employment. The corresponding figure for those who had never worked with animals was 13.