Leptospirosis in Retirees Living in Rural Areas: A Poorly Recognized Emerging Problem in Mainland France?

Among 40 patients diagnosed with leptospirosis in 3 hospitals of western mainland France between 2014 and 2018, half were at least 60 years old and retired. Their exposure factors were mainly rural residential environment with limited remarkable risk factors. Better awareness and information on leptospirosis appear necessary in this population.

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). By array comparative genomic hybridization, we identified a 0.6 Mb homozygous deletion in 16q23.

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

We report on a boy with myoclonus-dystonia (M-D), language delay, and malformative anomalies. Genetic investigations allowed the identification of an apparently balanced de novo reciprocal translocation, t(7;9)(q21;p23). Breakpoint-region mapping using fluorescent in situ hybridization (FISH) analysis of bacterial artificial chromosome (BAC) clone probes identified microdeletions of 3.

Screening of vibration-induced disorders in the building industry using digital tactilometry. Results of a field study.

As occupational physicians in the building industry, we observed among these workers a high frequency of vibration exposure, during different tasks. We intended to study vibration exposure effects on vibration perception thresholds measured by digital tactilometry in this population of construction workers. A cross-sectional field study was made, 405 subjects were examined; each of them answered a questionnaire, underwent a medical examination and performed a test measuring his vibration perception thresholds, 150 subjects constituted the reference group.

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307,000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son.

Localization of aldolase C mRNA in brain cells.

The expression of aldolase C and aldolase A mRNA was assessed by Northern blot hybridization using RNAs purified from cultured rat and mouse brain neurons and astroglial cells. Neurons were found to contain about 4-fold more aldolase C mRNA and about twice as much aldolase A mRNA than astroglia. Analysis of the cellular localization of aldolase C mRNA by in situ hybridization to brain slices showed a predominantly neuronal labeling with an irregular distribution.

The brain-specific gene for rat aldolase C possesses an unusual housekeeping-type promoter.

A DNA fragment encompassing the first exon and about 750 bp of the 5'-flanking sequence has been isolated and sequenced. The gene has multiple start sites of transcription which are dispersed over about 200 bp. The promoter lacks TATA and CAAT boxes and is very G + C-rich, with putative binding sites for the transcriptional factors Sp1 and AP2.

[Proximal trisomy 19q. Interstitial deletion and ring chromosome derived from 19q].

A proximal 19q duplication was observed in lymphocytes of a young boy with mental retardation, dysmorphism (weight excess, macrocephaly, downward slanted palpebral fissures, hypertelorism, broad nose, typical mouth), without visceral malformation. His mother had an interstitial deletion and ring chromosome derived from 19q.

Molecular cloning and expression of rat aldolase C messenger RNA during development and hepatocarcinogenesis.

A rat brain cDNA library was screened at low stringency with an aldolase B cDNA probe corresponding to the coding sequence of the mRNA, then at high stringency with a 3' non-coding aldolase A cDNA probe. One clone, which hybridized only under the first conditions, was further characterized and used to screen the library again. Two overlapping clones, complementary to aldolase C mRNA, were obtained.

Protein ADP-ribosylation in rat liver cytosol.

ADP and poly ADP-ribosylation are post-translational modifications of proteins which have been reported to occur essentially in eucaryotic nuclei. This phenomenon has been shown to interfere with a great variety of biological functions (cell differentiation, DNA repair, malignant transformation..

Transcutaneous PO2 monitoring (tcPO2) in the newborn during apneic spells, convulsions, cardiac catheterizations, and exchange transfusions.

Continuous transcutaneous PO2 recording improves the monitoring of critically ill infants and newborns submitted to invasive procedures such as exchange transfusions or cardiac catheterization. The measurement of tcPO2 in babies with apneic spells or seizures gives a better understanding of these respiratory disorders. It is reasonable to recommend the continuous monitoring of PO2 with a transcutaneous electrode in neonatal intensive care units.

Hyperanodic forms of human glucose-6-phosphate dehydrogenase.

Pure glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate:NADP+ 1-oxidoreductase, EC 1.1.1.

Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22.

NADH-cytochrome b5 reductase (DIA1, EC. 1.6.

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased.

Electrophoretic modifications of three enzymes in extracts of human and bovine lens. Posttranslational "aging" of lens enzymes.

Electrophoretic modifications have been found in extracts from human and bovine lenses for three enzymes: glucose-6-phosphate dehydrogenase, triosephosphate isomerase and nucleoside phosphorylase. Increased anodic mobility is observed in all cases. It is more pronounced than in red cell lysates, also more evident in lenses from adult than from young animals.