Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.

Adolescent↗

PubMed2004

Massive pulmonary haemorrhage complicating the treatment of acute coronary syndrome.

Antiplatelet medications such as clopidogrel and tirofiban (glycoprotien IIb/IIIa inhibitors) are associated with a reduction in mortality and morbidity and are therefore recommended in the treatment of acute coronary syndromes. Massive pulmonary haemorrhage is a rare complication of both clopidogrel and tirofiban. Pulmonary haemorrhage may easily be mistaken for acute pulmonary oedema, a condition commonly seen in patients with acute coronary syndrome. Physicians need to be aware of this diagnostic dilemma because early treatment increases the chances of patient survival.

Angina, Unstable↗

PubMed2004

Transthoracic echocardiography of a congenital left circumflex artery to coronary sinus fistula.

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Adult↗

PubMed2003

Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1.

BACKGROUND: Cognitive impairment is the most common complication of neurofibromatosis type 1 (NF1) in childhood. Current research suggests a strong relationship between cognitive deficits and brain T2-hyperintensities. The majority of these lesions disappear as the child ages. Cross-sectional data suggest that there also are improvements in intellect. OBJECTIVE: To determine the natural history of cognitive functioning and MRI T2-hyperintensities from childhood into adulthood, and whether changes in MRI T2-hyperintensities over time are predictive of changes in cognitive functioning. METHODS: The authors conducted a prospective longitudinal study of a cohort of 32 patients with NF1 and 11 unaffected sibling controls. All patients underwent neuropsychological assessments and 27 children underwent MRI examinations. The patients were then reassessed after an 8-year period. RESULTS: and CONCLUSIONS: There was no improvement in cognitive ability as the children with NF1 developed into adulthood compared with controls. Despite significant decreases in the number, size, and intensity of the T2-hyperintensities over the 8-year period, these changes were not associated with changes in cognitive ability. T2-hyperintensities in the cortex or subcortical or deep white matter are more frequent with age and these lesions are likely to have a different pathology than basal ganglia lesions. The best predictor of cognitive dysfunction in adulthood was the presence of T2-hyperintensities in childhood, rather than current lesion status. There is a limited time window (<18 years) in which the presence of T2-hyperintensities can be used as biologic markers of cognitive dysfunction.

Adolescent↗

PubMed2003

Guinea-pig heart acetylcholinesterase after continuous physostigmine administration.

G1 and G4 acetylcholinesterase (AChE) molecular forms were separated in different regions of guinea-pig heart. The activities of both were highest in the left side of the left ventricle (LV(L)). The reversible anticholinesterase physostigmine, or saline, was administered continuously for six days. In saline-treated animals the activity of both molecular forms was markedly increased in both atria, G1 activity was increased on the left side of the right ventricle (LV(R)), and G4 activity was increased on both sides of the right ventricle compared to untreated animals. However, G1 activity was significantly decreased on the left side of the left ventricle. Physostigmine administration caused a significant reduction in G4 activity in the left atrium (LA), the left side of the right ventricle, and the left side of the left ventricle, and a significant increase in G1 activity on the right side of the right ventricle compared to saline-treated animals. The distribution of AChE indicates a role for parasympathetic nerves in the control of both ventricles and atria. The changes in AChE in saline-treated animals could have been due to the anaesthesia or stress of the surgical procedures. Physostigmine caused delayed changes in the enzyme in some regions, consistent with an effect on its expression.

Acetylcholinesterase↗

PubMed2001

Optical multibead arrays for simple and complex odor discrimination.

A fiber optic bead-based sensor array platform has been employed to discriminate between six different odors and air carrier gas. Six different bead sensor types, with over 250 replicates of each, were monitored before, during, and after odor exposure to produce time-dependent fluorescence response patterns that were unique for each sensor-analyte combination. A total of 2,683 sensors were analyzed with respect to changes in their fluorescence, and signals from identical sensor beads were averaged to improve signal-to-noise ratios. Analyte classification rates of 100% were achieved for three complex (coffee bean) odors and three pure (simple) odors (toluene, acetone, 1,3-dinitrotoluene) measured at their highest relative concentrations. When lower odor concentrations were employed, the system exhibited better than 85% classification rates for analyte discrimination. Sensor response repeatability to these odor stimuli has also been quantified statistically, which is vital in defining the detection limit of the overall system. These results demonstrate, for the first time, the utility of our bead array technology for discriminating between different odor types at various dilution levels.

Journal Article↗

PubMed2001

The transmissible spongiform encephalopathies (prion diseases): a review for dental surgeons.

The transmissible spongiform encephalopathies (prion diseases) are a fatal group of neurological diseases characterised by the accumulation of an abnormal form of prion protein in the brain. In humans, these disorders occur in sporadic, acquired and familial forms. Outbreaks of bovine spongiform encephalopathy, predominantly in the United Kingdom, and the emergence of a clinically and pathologically distinct human prion disease, variant CJD, has generated much interest in the transmissible spongiform encephalopathies. As the agent is detectable in lymphoid and neural tissue in variant CJD, clinicians should be aware of the possibility of cross infection of the causative agent. This is particularly important because the abnormal prion protein is resistant to routine sterilisation procedures. This article reviews the transmissible spongiform encephalopathies, and summarises guidelines concerning prevention of crossinfection when treating patients with or at risk of developing prion disease.

Animals↗

PubMed2000

Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.

INTRODUCTION: Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterized by attacks of hemiplegia and mental retardation. It has been often associated with migraine. The CACNA1A gene on chromosome 19 is involved in familial hemiplegic migraine and other episodic cerebral disorders, but also with progressive neuronal damage. METHODS: We performed mutation analysis in this gene in four AHC patients, using single strand conformation polymorphism analysis. RESULTS: We found nine polymorphisms, but no mutations in any of the 47 exons. CONCLUSIONS: Other cerebral ion channel genes remain candidate genes for AHC.

Adult↗

PubMed2000

Malignant lymphoma of the maxillary sinus masquerading as an odontogenic infection: report of a case.

The dental surgeon can play an important role in the early referral of malignancy of the maxillary sinus, and should be familiar with the signs and symptoms of disease of the paranasal sinuses. Here we report a case of a 71-year-old male patient diagnosed with high-grade B-cell lymphoma of the maxillary sinus that was initially thought to be an odontogenic infection. We discuss the signs and symptoms of lymphomas and malignancy of the maxillary sinus.

Aged↗

PubMed1999

Primary pneumococcal peritonitis associated with tyrosinaemia type 1.

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Amino Acid Metabolism, Inborn Errors↗

PubMed1999

Metastasis of thyroid carcinoma to the mandible. Case report.

Metastatic tumours to the jaw bones are uncommon. The incidence of jaw bone metastasis is difficult to assess accurately since the usual method to determine the distribution of a metastatic tumour has been by a radiographic skeletal survey in which the jaws are rarely included. At times, metastatic lesions of the orofacial region may be the first evidence of dissemination of a known tumour from its primary site. A case of metastatic follicular carcinoma of the thyroid to the mandible is presented. The present case emphasizes the importance of considering metastasis in the differential diagnosis of a radiolucent lesion in the mandible in a patient with a history of any malignant disease.

Adenocarcinoma, Follicular↗

PubMed1998

Structural requirements for a specificity switch and for maintenance of affinity using mutational analysis of a phage-displayed anti-arsonate antibody of Fab heavy chain first complementarity-determining region.

We previously showed that a single mutation at heavy (H) position 35 of Abs specific for p-azophenylarsonate (Ars) resulted in acquisition of binding to the structurally related hapten p-azophenylsulfonate (Sulf). To explore the sequence and structural diversity of the H chain first complementarity-determining region (HCDR1) in modulating affinity and specificity, positions 30-36 in Ab 36-65 were randomly mutated and expressed as Fab in a bacteriophage display vector. Ab 36-65 is germline encoded, lacking somatic mutations. Following affinity selection on Sulf resins, 55 mutant Fab were isolated, revealing seven unique HCDR1 sequences containing different amino acids at position H:35. All Fab bound Sulf, but not Ars. Site-directed mutagenesis in a variety of HCDR1 sequence contexts indicates that H:35 is critical for hapten specificity, independent of the sequence of the remainder of HCDR1. At H:35, Asn is required for Ars specificity, consistent with the x-ray crystal structure of the somatically mutated anti-Ars Ab 36-71, while Sulf binding occurs with at least seven different H:35 residues. All Sulf-binding clones selected following phage display contained H:Gly33, observed previously for Ars-binding Abs that use the same germline V(H) sequence. Site-directed mutagenesis at H:33 indicates that Gly plays an essential structural role in HCDR1 for both Sulf- and Ars-specific Abs.

Animals↗

PubMed1998

A new allele of interferon-alpha17 gene encoding IFN-alpha17b is the major variant in human population.

Thirteen interferon (IFN)-alpha functional genes have been reported. Among these, a number of genes have allelic members (variants). In the case of IFN-alpha17, five variants, IFN-alpha17a, IFN-alpha17b, IFN-alpha17c, IFN-alpha17d, and IFN-alphaT, are known. The variants differ from each other by base changes in the coding region, leading to differences in amino acid sequences. We have developed oligonucleotide primers for amplification of IFN-alpha17 gene(s) using polymerase chain reaction (PCR). Genomic DNA, obtained from over 28,000 normal healthy individuals and from four cell lines, were used as templates in PCR to amplify the IFN-alpha17 gene sequences. The resulting PCR products were analyzed by restriction endonuclease digestion and DNA sequencing to identify the presence of variant sequences. The results show that a new variant of IFN-alpha17 is abundantly present (approximately 70%) along with another variant, possibly IFN-alpha17c (approximately 30%), in the genomic DNA of the population examined. This new variant, the protein product of which is identical to IFN-alpha17b, differs from the gene for IFN-alpha17b by a point mutation. We have named it IFN-alpha17b', which is the only variant found in U-937, KG-1, and EB-3 cell lines. Namalwa cells have IFN-alpha17b' and, possibly, IFN-alpha17c in equal proportions.

Alleles↗