Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi- generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.      

Associations of semen quality with non-essential heavy metals in blood and seminal fluid: data from the Environment and Male Infertility (EMI) study in Lebanon

Background

Human exposure to environmental pollutants is widespread. It was suggested that exposure to non-essential heavy metals may adversely affect semen development in men.

Purpose

To evaluate associations between non-essential heavy metals in blood and seminal fluid and semen quality parameters in men.

Methods

Male partners of heterosexual couples were included. The following elements were measured in blood and seminal fluid: lead (Pb), cadmium (Cd), arsenic (As), barium (Ba), mercury (Hg), and uranium (U) using ion-coupled plasma-mass spectrometry.

Setting

The fertility clinic at the American University of Beirut Medical Center.

Main outcome measures

Semen quality parameters (volume, concentration, total count, progressive motility, viability, and normal morphology).

Results

We found that participants with low-quality semen had significantly higher Cd and Ba concentrations in the seminal fluid than participants with normal-quality semen. We also observed significant associations between low sperm viability and higher blood Cd and Ba, as well as higher seminal Pb, Cd, Ba, and U. Furthermore, U concentrations in the seminal fluid were associated with increased odds ratios for below-reference progressive sperm motility and normal morphology.

Conclusions

Environmental exposures to Pb, Cd, Ba, and U appear to adversely influence sperm development in men. In non-occupationally exposed men, measurements of heavy metals in the seminal fluid may be more predictive of below-reference sperm quality parameters than in blood.

     

Caseous calcification of the mitral valve ring

Mitral annular calcification (MAC) is found in 10% of patients older than 50 years of age, and represents deposition of calcium between the basal infero-lateral ventricular wall and the posterior leaflet of the mitral valve. Caseous calcification, formed from a mixture of calcium, cholesterol and fatty acids, is an uncommon variant found on echocardiography in 0.6% of patients with MAC. The characteristic echographic appearance is of a large echo-dense structure with echo-lucent center and smooth borders. Caseous MAC carries a benign prognosis despite its impressive appearance and should not be misdiagnosed as a more serious condition such as myocardial abscess or tumor.     

Plasma inorganic fluoride with sevoflurane anesthesia: correlation with indices of hepatic and renal function.

The biotransformation and plasma inorganic fluoride ion production of sevoflurane (the new volatile anesthetic) during and after surgical anesthesia was studied in 50 ASA I or II surgical patients. Twenty-five additional patients served as controls by receiving isoflurane. Sevoflurane or isoflurane was administered with a semiclosed (total gas flow, 2 L/min O2) circle absorption system for durations of 1.0 to greater than 7.0 minimal alveolar concentration (MAC) hours for surgical anesthesia (sevoflurane MAC, 2.05%; isoflurane MAC, 1.15%). Preoperative and postoperative blood urea nitrogen and creatinine concentrations were determined. Blood samples were obtained during and after anesthesia in both groups for determining anesthetic blood concentration analysis and plasma fluoride level. Plasma fluoride concentrations did not significantly increase during isoflurane anesthesia. Sevoflurane biotransformation produced a mean peak plasma inorganic fluoride concentration of 29.3 +/- 1.8 mumol/L, 2 h after anesthesia, which decreased to 18 mumol/L concentration by 8 h after anesthesia. The peak plasma inorganic fluoride ion concentration correlated with duration of sevoflurane anesthetic exposure. Five patients given sevoflurane had peak levels transiently exceeding 50 mumol/L, and one of these had a history of ingesting drugs potentially producing hepatic enzyme induction. No increases in postoperative levels of creatinine, blood urea nitrogen, direct bilirubin, or hepatic transaminase and no changes in serum electrolyte level occurred in either anesthetic group. Indirect bilirubin concentration increased significantly after sevoflurane anesthesia, but the increase was not of clinical significance (from 0.30 +/- 0.03 to 0.38 +/- 0.06 mg/dL). Indirect bilirubin concentrations did not increase after isoflurane anesthesia; the concentrations reached 0.31 +/- 0.04 mg/dL and did not differ significantly from those found with sevoflurane.(ABSTRACT TRUNCATED AT 250 WORDS)     

鸟氨酸α酮戊二酸强化营养对大鼠癌性恶病质的作用:切除肿瘤可以提高营养支持的作用

探讨鸟氨酸α酮戊二酸对负荷肝细胞瘤Morris7777大鼠的作用。大鼠分别接受等氮、热卡的含鸟氨酸α酮戊二酸或甘氨酸的饲料。鸟氨酸α酮戊二酸已用于其它一些分解代谢状态（如创伤、败血症）。肿瘤植入自然生长3周后达11g／（100g体重），此时可以引起进行性的厌食、负氮平衡以及机体和组织的消耗。与甘氨酸比较，鸟氨酸α酮戊二酸既没有影响肿瘤的生长也没有改变肿瘤引起的宿主分解代谢变化。认为本研究以及当肿瘤占宿主体重4％～30％的报告中，强化营养支持效果欠佳的原因是由于肿瘤夺取了宿主的氨基酸。本实验证明肿瘤植入3周后，肿瘤自身的蛋白积累和对氨基酸氧化分解占宿主每日摄入蛋白量的～70％。由于临床工作中肿瘤总是在较小时被诊断并行初次治疗的。本实验进一步研究了手术切除肿瘤以限制疾病阶段后强化营养的作用。大鼠术前3天和术后3天或6天分别接受鸟氨酸α酮戊二酸或甘氨酸的饲料。鸟氨酸α酮戊二酸强化营养的大鼠其氮平衡、肌肉谷氨酰胺和支链氨基酸浓度、小肠蛋白积累高于甘氨酸强化营养的大鼠（P＜0．05）。本实验证明不切除肿瘤仅行营养支持其效果欠佳，而且为进一步实验研究建立了恰当的动物模型。     

Lack of agreement in classification of the severity of acute asthma between emergency physician assessment and classification using the National Asthma Council Australia guidelines (1998)

Aims: To determine the level of agreement in classification of the severity of acute asthma at presentation to the emergency department, between emergency physician global assessment and severity classification according to the National Asthma Council Guidelines, Australia 1998 (NACG). Methods: Prospective observational study in emergency departments throughout Australia, participating in the Asthma Snapshot 2000 project. Patients between the ages of one and 60 years presenting to participating emergency departments with acute asthma between 21 August and 3 September 2000 were included. Data collected were emergency physician global assessment of asthma severity and severity classification according to the National Asthma Council Guidelines and disposition. Results: Five hundred and five subjects had completed data for emergency physician assessment of severity and for calculation of severity classification according to the National Asthma Council Guidelines. Weighted kappa for agreement in classification was 0.48 (95% confidence interval: 0.40, 0.56). Emergency physicians assess asthma as less severe compared to the National Asthma Council Guidelines assessment. Conclusions: Agreement between physician assessment of severity of acute asthma and severity classification according to National Asthma Council Guidelines is only moderate. This may have implications in treatment and disposition. This also suggests that emergency physicians may be using other methods to classify acute asthma than the National Asthma Council Guidelines classification.     

Update on Percutaneous Mechanical Mitral Commissurotomy

A reusable metallic valvotomy device has been developed with the goals of improving the results of percutaneous mitral valvotomy and increasing the cost-effectiveness of the procedure. The device consists of a detachable and reusable metallic dilator with two articulated bars screwed at the distal end of a catheter. Using transseptal catheterization, the device is placed across the valve over a traction guidewire and then opened gradually by means of pliers up to a maximum of 40 mm. To date, the device was used in 168 patients with a broad spectrum of mitral valve disease. The procedure was successful in 95% of cases and resulted in an increase in mitral valve area from 1.01 ± 0.8 to 2.20 ± 0.7 cm². No increase in mitral regurgitation was noted in 87% of cases. Bilateral splitting of the commissures was observed in 89%. Complications included the following: 2 severe mitral regurgitations (one requiring surgery), 1 pericardial tamponade, 1 transient cerebrovascular embolic event. The maximum number of consecutive patients treated with the same device was 35. The results obtained are at least comparable to those of current balloon techniques and confirm the possibility of safe multiple reuses of the device after sterilization.