Nucleotide sequence and characterization of a cDNA encoding the acetohydroxy acid isomeroreductase from Arabidopsis thaliana.

The primary structure of acetohydroxy acid isomeroreductase from Arabidopsis thaliana was deduced from two overlapping cDNA. The full-length cDNA sequence predicts an amino acid sequence for the protein precursor of 591 residues including a putative transit peptide of 67 amino acids. Comparison of the A.

PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia.

Objective: We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region.

Patients: Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to human chorionic gonadotrophin stimulation tests were studied.

Measurements: Amplification by polymerase chain reaction of the SRY gene and direct double stranded DNA sequencing were performed with the same primers.

Plasma lipoproteins in cortical infarction versus transient ischaemic attacks: a case control study.

The authors investigated the relationship between plasma lipids and the risk for cortical infarction (61 cases) and transient ischaemic attacks (TIA) (35 cases) compared with matched controls. They observed a maximal increase of total cholesterol, of very low-density lipoprotein and low-density lipoprotein (LDL), triglycerides, total apolipoprotein (Apo), B,LDL-Apo B and Apo-A1, and small size high-density lipoprotein (HDL) and large size HDL whose separation was not possible. In contrast they observed a decrease of HDL-ApoE, a distribution of LDL in a single fraction and the presence of LDL of low weight in the group with cortical infarction with or without cardiac arrhythmias.

[Mortality of cerebral infarction with auricular fibrillation. Results of a population study].

To evaluate the relationship between atrial fibrillation (AF) and mortality of the cerebral infarction, we have studied in a population survey, 540 cerebral infarctions, whose 162 were with AF (30%) and 378 without AF (70%). The group with AF differs significantly from that without AF, by the higher frequency of women (62% versus 35%), older subjects (75.4 +/- 10.

[Functional hemispheric arousal and egocentric reference. An experimental study in 20 normal subjects].

The aim of this study was to evaluate the influence of each hemispheric functional arousal (right or left) on the designation of a subjective egocentric reference. The subjective designation of a egocentric reference was measured and compared in 20 right-handers healthy volunteers in cognitive tasks concerning either the right or the left hemisphere. The location of the egocentric reference was different during right or left hemispheric arousal.

[Agenesis of the corpus callosum and epilepsy. 26 cases].

Agenesis of the corpus callosum is a cerebral malformation diagnosed by CT scan. Beside mental retardation, the most frequent clinical manifestation is epilepsy. In a personal study of 26 cases, the authors analysed the clinical features of epileptic seizures observed with this malformation.

[Transient neurologic deficit preceding intracerebral hemorrhage. Physiopathological hypotheses].

Seventeen out of 238 cases (7%) of intracerebral hemorrhage were preceded by transient neurological deficit. In two cases, intracerebral hemorrhage and transient neurological deficit were thought to be due to amyloid angiopathy, this diagnosis was confirmed at autopsy in one case. In one case, intracerebral hemorrhage and transient neurological deficit were due to a cavernoma.

[Lissencephaly. Clinical, electroencephalographic and radiological aspects].

We report 2 cases of lissencephaly and review the cardinal symptoms: microcephalia, mental retardation, pyramidal syndrome and generalized epilepsy. CT-Scan and MRI show the anatomical abnormalities of this malformation: microcephalia, smooth cortex reducing the surface of white matter and lack of sulci and gyri. The fact that the myelin is normal on MRI suggests that this major disorder of neuronal migration does not come from radial glial fibers.

Isolation and kinetic properties of acetohydroxy acid isomeroreductase from spinach (Spinacia oleracea) chloroplasts overexpressed in Escherichia coli.

Acetohydroxy acid isomeroreductase catalyses a two-step reaction, an alkyl migration and a NADPH-dependent reduction, in the assembly of the carbon skeletons of branched-chain amino acids. Detailed investigations of acetohydroxy acid isomeroreductase aimed at elucidating the biosynthetic pathway of branched-chain amino acids and at designing new inhibitors of the enzyme having herbicidal potency have so far been conducted with the enzymes isolated from bacteria. To gain more information on a plant system, the gene encoding the mature acetohydroxy acid isomeroreductase from spinach (Spinacia oleracea) leaf chloroplasts has been used to transform Escherichia coli cells and to overexpress the enzyme.

Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.

In Turner patients, the presence of a Y chromosome or derivative Y is correlated with the risk of gonadoblastoma induction. "Marker" chromosomes originating from Y, may not show characteristic fluorescence and then be very difficult to identify by conventional cytogenetic techniques, although they still predispose the patients to gonadal tumors. Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, we screened 40 Turner patients (thirty seven 45X and three 45X,46XX) for the presence of Y chromosomal DNA.

Infectious complications of endoscopic retrograde cholangio-pancreatography managed in a surgical unit.

The immediate infectious pancreato-biliary complications of endoscopic retrograde cholangiopancreatography (ERCP) warranting transfer to a surgical unit are analyzed, in order to evaluate their frequency and severity as well as means of treatment and prevention. Thirty complications of this type were observed in a series of 3226 ERCP performed with or without endoscopic sphincterotomy (ES) over a six year period (0.9%).

[Investigation via electroencephalogram with sphenoidal electrodes of a case of reading epilepsy: role of the temporal lobe in the emotional evocation of seizures].

Reading epilepsy in a 20-year-old male. Electroencephalographic study with sphenoidal electrodes localized the onset of critical spikes in the temporal areas (especially the left). The frequency and diffusion of critical spikes were increased when material read had an emotional content.

Plasma lipoproteins in cortical versus lacunar infarction with or without cardiac arrhythmia, and in transient ischaemic attacks: a case control study.

We investigated the relation of plasma lipids to the risk for cortical infarction with (22 cases) or without (38 cases) cardiac arrhythmias, for lacunar infarction (28 cases) and transient ischaemic attacks (TAI) (15 cases). In the group of cortical infarction with or without cardiac arrhythmias, we observed a maximum increase of total cholesterol, of very low density lipoprotein (VLDL) and low density lipoprotein (LDL), triglycerides, total Apolipoprotein (Apo) B, LDL-Apo B and Apo-A1. On the contrary, we observed a decrease of total ApoE, HDL-ApoE, a distribution of LDL in a single layer and the presence of LDL of small weight.

Endolaparoscopic palliation of pancreatic cancer.

Two patients with advanced pancreatic cancer were palliated for both duodenal and biliary obstruction without laparotomy. The techniques of endoscopic biliary stent and laparoscopic gastrojejunostomy are described. This combination achieved rapid palliation with minimum morbidity.

Does the somatostatin analogue octreotide protect against ERCP induced pancreatitis?

This study evaluates the effect of the long acting somatostatin analogue octreotide on biochemical and clinical parameters of endoscopic retrograde cholangiopancreatography (ERCP) induced pancreatitis. Altogether 245 patients were randomised to receive either octreotide or isotonic saline. Octreotide (100 micrograms) was administered intravenously five minutes before ERCP and subcutaneously 45 minutes after ERCP.

[Dysregulation of plasma 1,25(OH)2D in calcium restriction in hypercalciuric children].

Background: The effect of calcium restriction on the plasma concentration of 1,25(OH)2D in normo- and hypercalciuric children remains unknown.

Methods: We studied phosphate and calcium metabolism of 8 normocalciuric and 8 hypercalciuric children aged 4 to 16 years, under 3 conditions: on a normal dietary calcium intake after a 5-day calcium-restricted diet, and after oral calcium loading. The healthy, normocalciuric children had histories that included no renal failure of abnormalities of phosphate and calcium metabolism.

[Piezoelectric extracorporeal lithotripsy in children: first results and reflections after 18 sessions].

From 1988 to 1990, we treated 13 children between the ages of 2 and 15 years with stones of the upper urinary tract. These stones were treated by means of 18 sessions of piezoelectric extracorporeal lithotripsy: 14 under general anaesthesia and 4 without even any analgesia. We obtained an 84.

Sphenoidal electrode insertion under local analgesia in children.

The indications for method and the results of sphenoidal electrode insertion under local analgesia are evaluated in children. This technique makes it possible to study the hippocampal area, which cannot be studied by other extracranial electrodes. It also localizes in a temporal lobe some complex seizures without electrical events on surface recordings, complex seizures with bilateral temporal spikes or a frontotemporal focus of spikes, as well as those with a temporal focus with bilateral synchronous spikes in standard EEG.

Vascular manifestations in homocystinuria.

Homocystinuria was discovered in a 21-year-old woman when she presented with lower limb ischemia and pulmonary embolism. This patient had a partial deficit in cystathionine-synthetase and took strongly dosed oral contraceptive medication. This report underscores: (1) the value of searching for this type of pathology even in the adult; (2) the possibility of disclosure by another condition, and particularly, drug-induced; (3) the importance of searching for other involved members of the same family; and (4) the possibility of treatment in vitamin sensitive patients.