A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation

BACKGROUND: A Korean family had distinctive clinical and neuroimaging features and carried the same genetic mutation that was found in a previously described Japanese kindred with autosomal dominant nocturnal frontal lobe epilepsy. OBJECTIVE: To describe the first Korean family with autosomal dominant nocturnal frontal lobe epilepsy. METHODS: Members of a large family, including 9 affected individuals from 3 generations, underwent a comprehensive genetic, clinical, electroencephalographic, neuropsychological, and neuroimaging evaluation. Affected members were tested for possible mutations in transmembrane regions 1 through 3 of the neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) by direct sequencing and subsequent restriction analysis. RESULTS: Seizures began in childhood, presenting as nocturnal episodes of staring, confusion, shouting, perioral movements, unintelligible speech, and hand waving. Some patients had ictal or interictal epileptiform activity in the temporal and/or frontocentral areas. Neurological examination and brain magnetic resonance imaging results showed no abnormalities, except that all patients available for testing had mild to moderate mental retardation. Fluorodeoxyglucose F 18 with positron emission tomography showed mild decreased glucose uptake in the superior and middle frontal regions, more so on the left than on the right. Patient response to carbamazepine was poor. All affected members were heterozygous for the CHRNA4 Ser252Leu mutation. CONCLUSIONS: Disorders associated with mutations in the transmembrane region 2 of CHRNA4 are genetically and phenotypically heterogeneous. Distinctive features of this kindred include (1) mental retardation in all affected members available for testing, (2) abnormal brain findings on fluorodeoxyglucose F 18 with positron emission tomography, (3) poor response to carbamazepine, and (4) full penetrance.     

Role of K(+) channels in frequency regulation of spontaneous action potentials in rat pituitary GH(3) cells

The frequency of spontaneous action potentials (SAP) is important in the regulation of hormone secretion. The decrease in K(+) conductance is known as a primary mechanism for increasing SAP frequency. To investigate the nature of K(+) channels that contribute to the frequency regulation of the SAP in rat clonal pituitary GH(3) cells, the effect of various K(+) channel blockers on the SAP and membrane currents were recorded using the patch-clamp technique. A classical inward rectifying K(+) channel blocker, Cs(+) (5 mM), caused an increase in firing frequency and depolarization in after-hyperpolarization (AHP) voltage. An ETHER-A-GO-GO(ERG) type K(+) channel blocker, E-4031 (5 microM), caused no significant effect on the SAP. Tetraethylammonium (TEA, 10 mM) decreased firing frequency and increased the duration of SAP. These effects were not changed by the presence of high concentration of Ca(2+) buffer (10 mM EGTA or BAPTA) in pipette solutions. In voltage-clamp experiments, Cs(+) and E-4031 did not affect outwardly rectifying K(+) currents, but significantly inhibited inwardly rectifying K(+) currents recorded in isotonic K(+) solution. However, the kinetics of Cs(+)-sensitive current and E-4031-sensitive current were distinctive: the time to peak was more immediate and the decay rate was slower in Cs(+)-sensitive current than in E-4031-sensitive current. These results imply that Cs(+) and E-4031 inhibit the distinct components of inwardly rectifying K(+) currents, and that the contribution of the Cs(+)-sensitive current can be immediate on repolarization and can last more effectively over pacemaking potential range than E-4031-sensitive current.     

Opportunistic screening for oral cancer and precancer in general dental practice: results of a demonstration study

OBJECTIVES: To demonstrate the feasibility of opportunistic oral cancer and precancer screening in general dental practice and to determine the prevalence of relevant lesions and risk habits in a population of general dental practice attenders. DESIGN: A prospective demonstration study, recruiting patients opportunistically. SETTING: General dental practices. METHODS: Eighteen general dental practitioners took part in this study. Each attended training sessions to be advised of the study protocol and the criteria of a positive and negative screen. Patients over the age of 35 years were prospectively and opportunistically recruited. Each patient was asked to complete a health questionnaire concerning age, gender, ethnicity, smoking and drinking habits. The dentist then examined the soft tissues and recorded the presence or absence of lesions independently on a second form. The forms were collated and data were analysed to determine prevalence of lesions and associations with risk habits. RESULTS: Data on 2,265 patients were available for analysis. Oral lesions were detected in 319 patients (14.1%). Ninety-four patients (4.2%) had lesions considered to be either malignant or potentially malignant. There was a significant association between positive lesions and male gender(IRR 1.86, 95% CI 1.22-2.82), heavy smoking (males: IRR 3.68, 95% Cl2.10-6.43: female; IRR 3.58, 954b CI 1.35-9.50) and heavy alcohol use in males (IRR 2.98, 95%q CI 1.06-3.47). CONCLUSIONS: The results suggest that patients attending general dental practices are representative of the general population both in terms of lesion prevalence and high risk habits such as smoking and drinking. This supports the view that opportunistic screening in a general dental practice setting may be a realistic alternative to population screening. Further research is needed to determine the cost effectiveness of this approach and to investigate the value of targeting high risk groups within this population. General dental practice is ideal for the evaluation of such systems prior to extending these studies to other healthcare settings.     

Mechanical properties of calcium phosphate based dental filling and regeneration materials

The objective of this study was to compare the mechanical properties of calcium phosphate cements (CPC) for possible dental applications with varied liquid and powder compositions under the same testing condition. Cements studied in this experiment were divided into two groups of CPC not containing polymer and polymeric CPC (PCPC). Cement powder was formed by combining equimolar amounts of dicalcium phosphate anhydrous and tetracalcium phosphate, or acrylic resin polymer powder mixture. The CPC specimens for the compressive strength (CS) and diametral tensile strength (DTS) measurements were prepared by mixing powder and liquid for 30 s with a powder/liquid ratio of 3:1, and subsequently packing the paste into a brass mould. The specimens were kept at 37 degrees C and 100% relative humidity for 24 h before measurements were conducted on a Universal Testing Machine with a cross-head speed of 1 mm min-1. The CS of CPC was 0.14-10.29 MPa and that of PCPC was 0.26-117.58 MPa. The DTS of CPC was 0.10-4.56 MPa and that of PCPC was 0.07-22.54 MPa. The CS and DTS were very diverse depending on the composition of powder and liquid. Some compositions showed higher values than commercial liners. Thus compositions of 2% carboxymethyl cellulose + 35% citric acid in phosphate buffered saline (PBS), 20% gelatin in PBS, 2% sodium alginate in PBS, 20-40% aqueous acrylic-maleic copolymer solution, and some of the HPMC and PMVE-Ma solutions exhibited promising formulae for dentine regenerating materials. Acrylic resin-PCPC group showed generally higher CS and DTS values. Based on this study, further studies on the reaction with odontoblast and resultant dentine regeneration should be performed using promising compositions.     

Predictors of stroke in the modern era of coronary artery bypass grafting: a case control study

BACKGROUND: Stroke is a rare but devastating complication after coronary artery bypass grafting (CABG) and its prevention remains elusive. We used a case control design to investigate the extent to which preoperative and perioperative factors were associated with occurrence of stroke in a cohort of consecutive patients undergoing myocardial revascularization. METHODS: From April 1996 to March 2001, data from 4,077 patients undergoing CABG were prospectively entered into a database. The association of preoperative and perioperative factors with stroke was investigated by univariate analyses. Factors observed to be significantly associated with stroke in these analyses were further investigated using multiple logistic regression to estimate the strength of the associations with the occurrence of stroke, after taking account of the other factors. RESULTS: During the study period, 4,077 patients underwent CABG and of these 923 (22.6%) had off-pump surgery. Forty-five patients suffered a perioperative stroke (1.1%). Overall there were 46 in-hospital deaths (1.1%), of whom 6 also suffered a stroke. Brain imaging of the stroke patients showed embolic lesions in 58%, watershed in 28%, and mixed in 14%. Multivariate regression analysis identified several preoperative factors as independent predictors of stroke, ie, age, unstable angina, serum creatinine greater than 150 mcg/ml, previous cerebrovascular accident (CVA), peripheral vascular disease (PVD), and salvage operation. When operative risk factors were added to the adjusted model, off-pump surgery was associated with a substantial, but not significant, protective effect against stroke (odds ratio = 0.56, 95% confidence interval 0.20 to 1.55). Survival for stroke patients was 93% and 78% at 1 and 5 years, respectively. CONCLUSIONS: Overall incidence of stroke is relatively low in our series. Age, unstable angina, previous CVA, PVD, serum creatinine greater than 150 mcg/ml, and salvage operation are independent predictors of stroke. These factors should be taken into account when informing each individual patient on the possible risk of stroke and in the decision-making process on the surgical strategy.     

Preoperative diagnosis of a paraesophageal bronchogenic cyst using endosonography

Preoperative diagnosis of paraesophageal bronchogenic cysts is difficult, and its management remains controversial. We describe the case of an incidental paraesophageal bronchogenic cyst, suspected preoperatively with endoscopic ultrasound and established intraoperatively by thoracoscopic inspection. Surgical treatment was achieved by cyst excision using a needlescopic technique. Endoscopic ultrasound seems to be the preoperative diagnostic test of choice for paraesophageal bronchogenic cysts.