Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes.

Pericarditis induced by high-dose cytosine arabinoside chemotherapy.

Pericarditis is a rare side effect of chemotherapy. We report here the case of a patient treated with high-dose cytosine arabinoside (HD ara-c) who developed severe pericarditis. Interruption of HD ara-c and initiation of corticosteroid treatment were effective in resolving the pericardial effusion.

Biomonitoring of early effects on the kidney or the lung.

Biomarkers of toxicity are usually altered before the onset of functional changes or clinical manifestations. Peripheral biomarkers of toxicity present an additional advantage in that they can be applied on easily accessible biological materials (blood or urine). They represent useful tools that can be used for identifying subjects or groups at risk in the industry or environment, or for establishing acceptable exposure levels.

A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34.

The disease gene TSC1 has been genetically mapped to human chromosome region 9q34, in a 4-cM interval between the markers D9S149 and D9S114. Within this interval there is conflicting genetic evidence as to the finer localization of the gene. We have used finger-printing methods and hybridization to produce a 1.

Transient increase of serum Clara cell protein (CC16) after exposure to smoke.

Objectives: Smoke inhalation is a well known cause of airways injury in firefighting personnel. The aim of this study was to evaluate whether toxic effects of smoke on the respiratory tract can be detected by measuring Clara cell protein (CC16), a recently described serum marker of lung function.

Methods: CC16 was measured by a sensitive latex immunoassay in the serum of six voluntary firefighters from a chemical plant who had inhaled smoke from the combustion of polypropylene for about 20 minutes.

Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.

The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthood on the basis of lifelong ambiguous external genitalia, hypogonadism, severe hypertension, bilateral adrenal hyperplasia, and biological markers evoking an excess of mineralocorticoids without hyperaldosteronism.

Hypocalcaemia and chronic alcohol intoxication: transient hypoparathyroidism secondary to magnesium deficiency.

The authors report the observation of an alcoholic patient admitted for tetanic manifestations, in whom severe hypocalcaemia associated with hyperphosphatemia were suggestive of hypoparathyroidism. Administration of magnesium supplementation alone improved the clinical features and led to the correction of the calcium abnormalities. The mechanisms of hypomagnesemia in alcohol intoxication are reviewed as well as the links with hypocalcaemia.

Clara cell protein (CC16): characteristics and potential applications as biomarker of lung toxicity.

Abstract Most biomarkers of lung toxicity presently available require a bronchoahreolar lavage (BAL). Such a procedure cannot be applied for monitoring populations at risk in the industry or environment nor for a regular follow-up of patients with lung disorders. A lung biomarker, measurable in serum, BAL fluid and sputum has recently been identified.

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.

A 46 kDa integral membrane protein from Mycobacterium leprae resembles a number of bacterial and mammalian membrane transport proteins.

In this paper we describe the nucleotide sequence of a 3.4 kbp region of the Mycobacterium leprae genome. This region contains an open reading frame of 1290 bp with a coding capacity for a protein of 46,179 Da, designated the 38L protein.

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.

Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). The TSC2 gene has recently been isolated, while the TSC1 gene has been mapped to a 5-cM region between the markers D9S149 and D9S114.

Combined thromboxane A2 synthase inhibition and prostaglandin endoperoxide receptor antagonism limits myocardial infarct size after mechanical coronary occlusion and reperfusion at doses enhancing coronary thrombolysis by streptokinase.

Objectives: We sought to examine to what extent a combination of strong thromboxane A2 synthase inhibition and moderate endoperoxide receptor blockade enhances streptokinase-induced coronary thrombolysis and provides anti-ischemic activity independent from its thrombolytic activity.

Methods: Coronary thrombi, induced by crush injury and stenosis of the coronary artery, were lysed with streptokinase, 10,000 IU/kg body weight over 90 min, in anesthetized dogs receiving solvent (n = 11), ridogrel, 0.31 mg/kg intravenously, for thromboxane A2 synthase inhibition (n = 7) or ridogrel, 5 mg/kg, for additional prostaglandin endoperoxide receptor antagonism in addition to thromboxane A2 synthase inhibition (n = 7) 10 min before the administration of streptokinase.

Simple colorimetric microtiter plate hybridization assay for detection of amplified Mycobacterium leprae DNA.

The detection of amplified products resulting from polymerase chain reactions (PCRs) remains a complicated process. To simplify the detection procedures, we developed a colorimetric microtiter plate hybridization assay for the specific detection of 5'-biotinylated PCR fragments of Mycobacterium leprae DNA. For this assay, an M.

Interplay between platelet-derived 5-hydroxytryptamine and arachidonic acid metabolites limits the thrombolytic efficacy of streptokinase against canine platelet-rich coronary thrombosis.

The comparative contributions of arachidonic acid (AA) metabolites and 5-hydroxytryptamine (5-HT) to the delay of reperfusion and rate of reocclusion after coronary thrombolysis with streptokinase were assessed in dogs using (a) single TXA2 synthase inhibition; (b) single 5-HT2-receptor blockade; (c) dual TXA2 synthase inhibition/PGH2 receptor antagonism; (d) 5-HT2-receptor blockade combined with TXA2 synthase inhibition; and (e) 5-HT2-receptor blockade combined with dual TXA2 synthase/PGH2-receptor antagonism. In open-chest anesthetized dogs, occluding coronary thrombi were induced by severe intimal injury in combination with critical artery stenosis. Fifty minutes after occlusive thrombus formation, the animals received intravenously (i) saline (S); (ii) ketanserin, 0.

Comparative effects of R 80122, enoximone, and milrinone on left ventricular phosphodiesterase isoenzymes in vitro and on contractility of normal and stunned myocardium in vivo in dogs.

Using different subtypes of cyclic nucleotide phosphodiesterase (PDE) isoenzymes isolated from canine left ventricle, we identified R 80122, a 1,2,3,5-tetrahydro2-oxoimidazo[2,1-b]quinazoline derivative that was a more selective and potent inhibitor of PDE type III than milrinone or enoximone. Such substances improve cardiac contraction and relaxation, elicit vasodilation, and increase cardiac output (CO). To determine the extent to which these compounds affect the contractile force of stunned myocardium, the effects of enoximone, milrinone, and R 80122 on cardiac function were compared in anesthetized dogs subjected to 15-min occlusion of the left anterior descending coronary artery (LAD) followed by reperfusion, and treated beginning 30 min after reperfusion, with the compound being studied.

Fast-Strike Feeding Behavior in a Pteropod Mollusk, Clione limacina Phipps.

High speed cinematography and video recordings were used to evaluate the fast-strike feeding response by which Clione limacina captures its prey, Limacina helicina. The acquisition phase of feeding involves rapid mouth opening and extrusion of three pairs of buccal cones. Mouth opening occurs in 10 to 20 ms, while hydrostatic inflation of the buccal cones takes 50 to 70 ms.

Seasonality of cattle feed sources in Pabna, Bangladesh.

Cattle feed sources were studied at village level in Pabna district, Bangladesh. A large quantity of feed was offered. In the monsoon the average amount of DM fed to a mature animal of 210 kg was 7.

Priming solutions for cardiopulmonary bypass: comparison of three colloids.

The present study was designed to compare the differences in the clinical effects of three colloidal solutions, albumin, urea-linked gelatin, and succinyl-linked gelatin, when used as priming fluids for cardiopulmonary bypass (CPB) under alpha-stat conditions. A consecutive series of 105 patients scheduled for cardiac surgery were randomized into three identically managed groups, except for the CPB prime. Variables relating to acid-base status, oncotic activity, metabolism, coagulation, and postoperative evaluation were measured.

Evaluation of factors influencing myocardial infarct size in unconscious dogs.

Study Objective: The aim was to evaluate the factors determining myocardial infarct size in unconscious dogs.

Design: In anaesthetised open chest dogs, the left anterior descending coronary artery was occluded either by ligation or by thrombosis for different time periods (1.5 h, 4 h, 24 h), with or without reperfusion.

Effects of R 56,865, a preventer of cellular calcium overload, on left ventricular diastolic properties during pacing-induced ischemia in dogs.

The effects of R 56,865, a compound with unusual calcium antagonistic properties, on altered left ventricular (LV) diastolic properties were studied during pacing-induced ischemia in dogs with coronary stenosis. Severe coronary artery stenosis was produced on both the left anterior descending (LAD) and circumflex (Cx) coronary arteries in anesthetized beta-blocked dogs. The right atrium was paced at 200 beats/min for 3 min.

Stunned myocardium has increased mitochondrial NADH oxidase and ATPase activities.

Ten anesthetized, open-chest dogs were subjected to occlusion of the left anterior descending coronary artery for 15 minutes, followed by reperfusion for 150 minutes. Hemodynamics were recorded and regional myocardial contraction was measured sonometrically. The hearts were then fixed in situ using glutaraldehyde for cytochemical studies.