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Biomedical subjects

G Morin

Publications and source records attributed to G Morin.

At least 19 recordsLinked to original sources
PubMed2006

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease. METHODS: Patients were diagnosed at 6 months of age and younger and exhibited severe GAA deficiency and cardiomyopathy. Patients received IV infusions of rhGAA at 20 mg/kg (n = 9) or 40 mg/kg (n = 9) every other week. Analyses were performed 52 weeks after the last patient was randomized to treatment. RESULTS: All patients (100%) survived to 18 months of age. A Cox proportional hazards analysis demonstrated that treatment reduced the risk of death by 99%, reduced the risk of death or invasive ventilation by 92%, and reduced the risk of death or any type of ventilation by 88%, as compared to an untreated historical control group. There was no clear advantage of the 40-mg/kg dose with regard to efficacy. Eleven of the 18 patients experienced 164 infusion-associated reactions; all were mild or moderate in intensity. CONCLUSIONS: Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acid alpha-glucosidase in which patients were older.

Dose-Response Relationship, Drug↗
PubMed2005

XAS evidence of As(V) association with iron oxyhydroxides in a contaminated soil at a former arsenical pesticide processing plant.

The molecular-level speciation of arsenic has been determined in a soil profile in the Massif Central near Auzon, France that was impacted by As-based pesticides by combining conventional techniques (XRD, selective chemical extractions) with X-ray absorption spectroscopy (XAS). The arsenic concentration is very high at the top (>7000 mg kg(-1)) and decreases rapidly downward to a few hundreds of milligrams per kilogram. A thin layer of schultenite (PbHAsO4), a lead arsenate commonly used as an insecticide until the middle of the 20th century, was found at 10 cm depth. Despite the occurrence of this As-bearing mineral, oxalate extraction indicated that more than 65% of the arsenic was released upon dissolution of amorphous iron oxides, suggesting a major association of arsenic with these phases within the soil profile. Since oxalate extraction cannot unambiguously distinguish among the various chemical forms of arsenic, these results were confirmed by a direct in situ determination of arsenic speciation using XAS analysis. XANES data indicate that arsenic occurs mainly as As(V) along the soil profile except for the topsoil sample where a minor amount (7%) of As(III) was detected. EXAFS spectra of soil samples were fit by linear combinations of model compounds spectra and by a shell-by-shell method. These procedures clearly confirmed that As(V) is mainly (at least 80 wt %) associated with amorphous Fe(III) oxides as coprecipitates within the soil profile. If any, the proportion of schultenite, which was evidenced by XRD in a separate thin white layer, does not account for more than 10 wt % of arsenic in soil samples. This study emphasizes the importance of iron oxides in restricting arsenic dispersal within soils following dissolution of primary As-bearing solids manufactured for use as pesticides and released into the soils.

Arsenic↗
PubMed2005

Sorption and redox processes controlling arsenic fate and transport in a stream impacted by acid mine drainage.

Reigous acid creek originating from the Carnoulès tailings impoundment supplies high concentrations of arsenic under soluble (up to approximately 4 mg/l) and particulate (up to 150 mgAs/g) phases to the Amous river, situated at the drainage basin of the Rhône river (Southern France). The metalloid is present as As(III) (>95%) in Reigous creek water while As(V) predominates (50-80%) in the solid phase, i.e. schwertmannite. At the confluence between acid (pH<5) creek and alkaline Amous river, As(III) concentrations decrease ten-fold through dilution and formation of As-rich ferrihydrite (As/Fe=0.02-0.1) containing 10-30% As(III). However, these attenuation processes are not efficient in the summer heatwave of 2003 since As concentrations in Amous river water (>or=20 microg/l) and As/Fe ratios in particulate matter (>or=0.07) are closed to those of Reigous creek (<or=22 microg/l and <or=0.02, respectively) or even higher. Downstream the confluence, processes involved in the transport of aqueous As along Amous river flowpath vary seasonally. Arsenic is transported conservatively in the aqueous phase away from the confluence in the cooler months; thus, dilution by unpolluted tributaries is the only process that decreases As concentrations. However, As(III) is rapidly oxidized and As(V) remains in solution. In contrast, during the warm season, desorption from As-rich sediment occurs which results in an increase of As(V) and As(III) concentrations along Amous river flow until they reach up to approximately 20 microg/l each. Therefore, Amous river seems not to be totally recovered from mine-related arsenic contamination after 3.5 km and may affect freshwater resources further downstream.

Adsorption↗
PubMed2004

Mapping of quantitative trait loci for partial resistance to Mycosphaerella pinodes in pea (Pisum sativum L.), at the seedling and adult plant stages.

The inheritance of resistance to Ascochyta blight, an economically important foliar disease of field pea ( Pisum sativum L.) worldwide, was investigated. Breeding resistant pea varieties to this disease, caused by Mycosphaerella pinodes, is difficult due to the availability of only partial resistance. We mapped and characterized quantitative trait loci (QTLs) for resistance to M. pinodes in pea. A population of 135 recombinant inbred lines (RILs), derived from the cross between DP (partially resistant) and JI296 (susceptible), was genotyped with morphological, RAPD, SSR and STS markers. A genetic map was elaborated, comprising 206 markers distributed over eight linkage groups and covering 1,061 cM. The RILs were assessed under growth chamber and field conditions at the seedling and adult plant stages, respectively. Six QTLs were detected at the seedling stage, which together explained up to 74% of the variance. Ten QTLs were identified at the adult plant stage in the field, and together these explained 56.6-67.1% of the variance, depending on the resistance criteria and the organ considered. Four QTLs were detected under both growth chamber and field conditions, suggesting they were not plant-stage dependent. Three QTLs for flowering date and three QTLs for plant height were also identified in the RIL population, some of which co-located with QTLs for resistance. The relationship between QTLs for resistance to M. pinodes, plant height and flowering date is discussed.

Analysis of Variance↗
PubMed2003

Immobilization of arsenite and ferric iron by Acidithiobacillus ferrooxidans and its relevance to acid mine drainage.

Weathering of the As-rich pyrite-rich tailings of the abandoned mining site of Carnoulès (southeastern France) results in the formation of acid waters heavily loaded with arsenic. Dissolved arsenic present in the seepage waters precipitates within a few meters from the bottom of the tailing dam in the presence of microorganisms. An Acidithiobacillus ferrooxidans strain, referred to as CC1, was isolated from the effluents. This strain was able to remove arsenic from a defined synthetic medium only when grown on ferrous iron. This A. ferrooxidans strain did not oxidize arsenite to arsenate directly or indirectly. Strain CC1 precipitated arsenic unexpectedly as arsenite but not arsenate, with ferric iron produced by its energy metabolism. Furthermore, arsenite was almost not found adsorbed on jarosite but associated with a poorly ordered schwertmannite. Arsenate is known to efficiently precipitate with ferric iron and sulfate in the form of more or less ordered schwertmannite, depending on the sulfur-to-arsenic ratio. Our data demonstrate that the coprecipitation of arsenite with schwertmannite also appears as a potential mechanism of arsenite removal in heavily contaminated acid waters. The removal of arsenite by coprecipitation with ferric iron appears to be a common property of the A. ferrooxidans species, as such a feature was observed with one private and three collection strains, one of which was the type strain.

Acidithiobacillus↗
PubMed2001

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus.

Abortion, Therapeutic↗
PubMed2001

Recurrent pyelonephritis without vesicoureteral reflux: is there a role for an antireflux procedure?

PURPOSE: To evaluate the results of an endoscopic antireflux procedure in women with recurrent acute pyelonephritis and no evidence of vesicoureteral reflux (VUR) on voiding cystograms. PATIENTS AND METHODS: From 1989 to 1999, 603 female patients were hospitalized for acute pyelonephritis with unilateral loin pain, chills, fever, and a positive urine culture. Of these patients, 48 (8%) had recurrent episodes of acute pyelonephritis and underwent a thorough diagnostic work-up including intravenous urography or renal CT scan, cystoscopy, and voiding cystourethrography (VCUG). Vesicoureteral reflux was demonstrated in 21 patients, who were then offered an antireflux procedure, either surgical or endoscopic. Another 27 patients had no reflux on VCUG; in 15 cases, the upper urinary tract was normal, and the ureteral orifices did not show any abnormality on cystoscopy. The other 12 patients in this group with a normal VCUG had one or more abnormal findings normally associated with VUR: renal scarring in five and ureteral duplication in two. Golf-hole ureteral orifices were noted in two patients. The intravesical ureter was short (< 5 mm) in five patients. In spite of the normal VCU, we offered these patients endoscopic treatment of VUR by submeatal injection of Teflon or microparticulate silicone (Macroplastic). The median follow-up before treatment was 4 years (range 1-15.3 years); 0.3 episodes of acute pyelonephritis per patient-month of follow-up were noted. The frequence of preoperative and postoperative episodes of acute pyelonephritis was compared with Wilcoxon's paired analysis. The median postoperative follow-up was 3.9 years (range 1.1 months-10.2 years). RESULTS: There were no significant postoperative complications. One patient had two episodes of acute pyelonephritis during pregnancy. On the whole, 11 patients (91%) were free of recurrent pyelonephritis after treatment. Overall, 0.003 episodes of acute pyelonephritis per patient-month of postoperative follow-up were observed. The result was statistically significant (P < 0.01). CONCLUSION: Recurrent acute pyelonephritis is frequently related to VUR. Intermittent reflux can be difficult to demonstrate on voiding conventional or nuclear cystograms but can be suspected in the presence of ureteral duplication, renal scarring, or abnormal ureteral orifices. Adult patients with recurrent episodes of upper urinary tract infection and normal cystograms should be considered for an endoscopic antireflux procedure in the presence of anatomic abnormalities commonly associated with reflux.

Acute Disease↗
PubMed2001

[MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes].

BACKGROUND: The MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes) belongs to the category of mitochondrial disorders. The most common molecular etiology of the syndrome is a mutation A to G transition at base pair 3243 in the mitochondrial genome. The phenotype is varied and depends on the proportion of DNA muted and which organ on aerobic metabolism suffers most. CASE-REPORT: An 17 year-old woman had successively neurosensory hearing loss, renal disease, cardiomyopathy, diabetes mellitus, lactic acidosis and stroke-like episodes that evoked a MELAS syndrome. DISCUSSION: The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate hypertrichosis, seborrheic eczema, atopy and vitiligo. Our patient presented severe hirsutism and reticular pigmentation of the limbs. No abnormal histologic and electron microscopic findings were noted in the skin or the follicles involved.

Adolescent↗
PubMed2000

The KBG syndrome: an additional sporadic case.

We report the sporadic case of a boy with clinical features of KBG syndrome, including slight mental retardation, characteristic facies, macrodontia, and skeletal anomalies.

Abnormalities, Multiple↗
PubMed1999

Modeling EPR powder spectra using numerical diagonalization of the spin hamiltonian

A new modeling code, ZFSFIT (standing for Zero Field Splitting FITting), written in FORTRAN 77 is proposed. It is designed for computing and fitting EPR powder spectra described by any spin Hamiltonian including second- and fourth-order ZFS terms (S </= 52) and/or a hyperfine term (I </= 72). Based on numerical diagonalization of the spin Hamiltonian, this code computes the powder spectrum, the calculated angular dependencies, and the energy levels at any orientation. Least-squares refinement of the spin Hamiltonian parameters is performed either by adjusting powder line positions (EPRPLP module) or by directly fitting the powder spectra (ZFSFIT code). Especially, simultaneous fitting of EPR powder line positions recorded at distinct frequencies improves the accuracy of the refined EPR parameters. Superhyperfine effects as well as broadening effects due to site-to-site distribution of g-, A-, and ZFS parameters are treated using first-order perturbation theory and can also be refined. Parameters for several distinct centers can be fitted simultaneously, allowing quantification of their relative amounts in the sample. After a description of the algorithm, determination of second- and fourth-order ZFS parameters of Cr3+, Mn2+, and Fe3+ centers in low-symmetry sites in minerals are treated, including first evidence of structural Fe3+ centers in alphaAl(OH)3. The code is available without charge to academic users from the authors. Copyright 1999 Academic Press.

Journal Article↗
PubMed1999

[Utilizing assistive devices: comparison of the American model with the reality of the needs of Quebec].

In order to understand better the nature of the success or failure of a recommendation of a technical aid, a group of occupational therapists from Québec became interested in an American assessment called "Assistive technology device predisposition assessment". This assessment is based on the "Matching Person and Technology" model proposed by Scherer in 1994. The model describes 40 factors that can influence the use (or the non use) of technical aids. A participative and qualitative study was conducted with the collaboration of 10 francophone occupational therapists, in order to verify if the tool can be adapted to Québec's context. Each had to reconstruct two case studies following the recommendation of a technical aid: the first showing a satisfactory use of a technical aid and the second, a non use of a technical aid. According to the participants' experience, the results show that the American assessment focuses well on the pertinent factors of technical aids, providing that seven other specific factors are added. This article describes four of the case studies that show the importance of considering different influential factors that could render other significant results. Finally, the study generated two proposals for further research in the area of technical aids.

Decision Making↗
PubMed1998

[Solitary fibrous tumor of the seminal vesicles: apropos of a case].

Solitary fibrous tumours constitute a rare disease, which has never previously been described in the seminal vesicles. We report a case of solitary fibrous tumour of the right seminal vesicle in a 53-year-old man. The diagnosis of seminal vesicle tumour was based on transrectal ultrasonography and MRI. The histological diagnosis was established after surgical resection of this tumour. The small biopsy samples and the heterogeneous appearance of these lesions make it difficult to establish the diagnosis on biopsies alone. The surgical attitude to solitary fibrous tumour of the seminal vesicle depends on the clinical features and the course of the lesion.

Antigens, CD34↗
PubMed1997

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Familial juvenile nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disorder, representing the most frequent inherited cause of chronic renal failure in children. One of the responsible loci, NPH1 , has been mapped to 2q13. The presence of large homozygous deletions of approximately 250 kb in the majority of affected patients allowed us to define a minimal deletion interval for NPH1 . A BAC contig covering this interval was established. Combination of large scale genomic sequencing, cDNA selection and computer-aided analysis led to the characterization of two transcriptional units. One encodes the already known BENE protein, and the other encodes a novel protein of at least 732 amino acids containing a putative src homology 3 domain. In two patients carrying the large deletion of the NPH1 region on only one allele, two mutations were detected in two independent exons of the novel gene. One consists of a single base deletion, causing a frameshift, and the other is a G-->A substitution in the consensus 5' splice donor site. Both mutations thus potentially generate null mutants. One of these mutations was found to segregate with the disease in the family, and the second appeared to be a de novo mutation. We therefore conclude that this novel gene is a strong candidate for NPH.

Amino Acid Sequence↗
PubMed1995

The effect of a toe cap and bias on perceived pain during cold water immersion.

Cold water immersion is an integral part of acute injury care. Despite tremendous success, the treatment causes discomfort, which may result in noncompliance. Two variables, including use of a neoprene toe cap and prior knowledge of the perceived sensations of pain gained through a therapeutic modalities class, were examined for their effects on the perception of cold. Thirty four subjects were recruited and underwent two 21-minute cold water immersion treatments (14 degrees C). During this time, each subject completed a McGill Pain Questionnaire every 3 minutes. The results from the questionnaire were analyzed using a Stepwise Discriminant Analysis Function with factored categories undergoing multivariate analysis. Factors distinguishing between the perceptions of cold for both variables were identified. The toe cap does reduce pain sensation during cold immersion. Taking a therapeutic modalities class resulted in a higher perception of the sensory component of pain. Those who had not taken such a class tended to score higher in responses to the affective pain component and the categories that represented a combination of pain components. By providing athletes with a greater understanding of perceived pain associated with cold treatments, compliance with treatments should be greater.

Journal Article↗
PubMed1995

The fidelity of human telomerase.

The ribonucleoprotein enzyme telomerase is a RNA dependent DNA polymerase. The function of telomeres is mediated by the proteins which bind telomeric repeats. The binding of those proteins is sequence specific. We determined the fidelity of the DNA polymerization reaction of human telomerase in order to understand the origin of non-canonical telomeric repeats in human telomeres and to gain insight into the reaction mechanism of telomerase. By cloning and sequencing a large number of in vitro generated telomeric repeats we found the error rate for human telomerase to be approximately 2 x 10(-3) per nucleotide or one non-TTAGGG repeat for every 100 TTAGGG repeats. All the nucleotide changes observed were A --> C changes for a positional error rate of 1.2 x 10(-2). All the other positions had no observed errors for a positional error rate no greater than 1.2 x 10(-3).

Base Sequence↗
PubMed1994

Detection of equine arteritis virus following amplification of structural and nonstructural viral genes by reverse transcription-PCR.

A reverse transcription (RT)-PCR assay was developed for the detection of equine arteritis virus (EAV) in cell culture supernatant and in horse semen. Four different sets of oligonucleotide primers complementary to sequences located in the 3' end of the polymerase gene (open reading frame [ORF] 1b) and to sequences representing the entire ORFs 3, 4, and 7, which encode for nonstructural (ORFs 3 and 4) or viral nucleocapsid (ORF 7) proteins, were compared for their abilities to amplify the targeted EAV sequences by the RT-PCR procedure. The sensitivities of the RT-PCR for amplification of EAV sequences located in the 3' end of ORF 1b and ORF 4 were 2 median tissue culture infective doses (TCID50s) of viral particles in the EAV-infected cell culture supernatant for both ORFs and 20 and 200 TCID50s of viral particles, respectively, in virus-containing horse semen. The sensitivities were much lower when primers complementary to ORFs 3 and 7 were used in the RT-PCR, with a minimum detection limit of only 2 x 10(4) TCID50s of viral particles in virally infected cell culture supernatant, as determined by analyzing the resulting RT-PCR products on ethidium bromide-stained agarose gels. The specificities of the RT-PCR assays for all primer sets tested were confirmed when the amplified cDNA products of the expected size reacted positively with the corresponding virus-specific digoxigenin-labeled cDNA probes in the chemiluminescence assays. Although the sensitivity of the RT-PCR for amplification of ORF 3 and 7 sequences was lower, all sets or primers were capable of amplifying several cell culture-adapted EAV field isolates when the virus was present in high enough quanities in the test sample. When horse semen samples were analyzed for the presence of EAV by the RT-PCR with primers specific to the ORF 1b 3' end and ORF 4 sequences and by virus isolation in cell cultures, there was 100% concordance among the assays. The RT-PCR assay targeting the 3' end of ORF 1b and/or ORF 4 EAV RNA may be an alternative to conventional methods for the diagnosis of EAV infection in horses.

Animals↗