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Biomedical subjects

M Lambert

Publications and source records attributed to M Lambert.

At least 91 records · Page 5Linked to original sources
PubMed1999

[Admission status of alcohol and drug-dependent patients in "high threshold" access to withdrawal treatment].

OBJECTIVE AND METHODS: 106 patients (64.2% male and 35.8% female) who applied for a withdrawal treatment by phone call, were interviewed concerning the admission context with the aim to find out whether the admission regulations prevent patients from undergoing treatment. RESULTS: 72.6% of all patients were admitted as inpatients. The average waiting period was 8 days. 15.1% were known to have previously suffered from conclusions and 4.7% from delirium tremens; for these patients, the waiting period was significantly shorter. CONCLUSIONS: High-threshold admission is not an insurmountable difficulty. Waiting periods and soberness at admission are accepted. Setting up admission conditions is, on the one hand, justified, whereas on the other hand chronic patients are often not reached. Telephone contacts with patients willing to undergo treatment should be replaced by contacts in an outpatient setting.

Alcoholism↗
PubMed1999

Continuing education--move on or move out.

One of the members of a new group of continuing education providers argues that the kind of learning dentists are interested in is what patients want and what dentists did not learn in dental school. The dual developments of new alternatives in dentistry and Baby Boomers with an appetite for appearance and money to pay for it explain why courses in aesthetic dentistry, tooth whitening, orthodontics, high-tech, and innovative marketing are so popular.

Education, Dental, Continuing↗
PubMed1998

Intestinal expression of the calbindin-D9K gene in transgenic mice. Requirement for a Cdx2-binding site in a distal activator region.

The calbindin-D9K gene encodes a vitamin D-induced calcium-binding protein that is expressed as a marker of small intestine differentiation. We have shown that 4580 base pairs of its 5' DNA regulatory region can target reporter transgene expression in the intestine and cause this transgene to respond like the endogenous gene to vitamin D active metabolite and that the homeoprotein Cdx2 is bound to the TATA box in the intestine. We now show that the 4580 base pairs construct confers a differentiated pattern of reporter transgene expression in the intestine and that cooperation between the proximal promoter and a distal element located in an opened chromatin structure is responsible for the intestinal expression and vitamin D responsiveness of the transgene. Gel shift and footprinting assays using duodenal nuclear extracts indicate that this distal element contains a Cdx2-binding site. Finally, a mutation in this distal Cdx2-binding site dramatically decreases intestinal expression in transgenic mice. This report, using an in vivo approach, demonstrates the crucial role of Cdx2 for the transcription of an intestinal gene.

Animals↗
PubMed1998

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

Only few cases with an interstitial deletion of chromosome 14 have been described so far. We report on a 21-month-old girl with an interstitial deletion of the long arm of chromosome 14, del(14)(q22.1q23.2). She presented with bilateral anophthalmia, absent left external auditory canal, facial asymmetry, microretrognathia, hypotonia, and psychomotor retardation. Skeletal X-rays showed lambdoid craniosynostosis, a very small sella turcica and cervical vertebral anomalies. Brain MRI showed the absence of the optic chiasm, an hypoplastic pituitary gland, and cortical atrophy. No cardiac or abdominal malformations were found. Two other patients with a similar deletion, (del(14)(q22.1q23) and del(14)(q22.1q22.3)), are described. Both presented with bilateral anophthalmia and absent pituitary or hypogonadism. These three cases suggest that the region 14q22 is important for eye and pituitary development. Interestingly, the human BMP-4 gene, a member of the TGF-beta superfamily, maps to 14q22-q23 and may play a role in pituitary and eye development.

Abnormalities, Multiple↗
PubMed1998

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism in both blood lymphocytes and skin fibroblasts. In the second family, both twins also showed mosaicism in lymphocytes. The female had a 45,X karyotype in fibroblasts from skin and gonadal tissue, but in contrast to the first family, the male twin had a normal male karyotype in fibroblasts from skin biopsy and from connective tissue adjacent to the vas deferens. Discordant phenotypic sex in monozygotic twins is rare. As in our cases, the nine previously reported sets of MZTs all had mosaicism for sex chromosome abnormalities. A mitotic error leading to the loss of a Y chromosome prior to, accompanying, or following the twinning process would account for the reported combinations of karyotypes.

Female↗
PubMed1998

Markers of cellular dysoxia during orthotopic liver transplantation in pigs.

OBJECTIVE: To characterize global, regional, and end-organ markers of cellular dysoxia during orthotopic liver transplantation and early reperfusion in pigs. DESIGN: Descriptive study. SETTING: University hospital research laboratory. ANIMALS AND INTERVENTIONS: 7 fasted, anesthetized, and mechanically ventilated Yorkshire pigs underwent orthotopic liver transplantation. Oxygen consumption (VO2) and oxygen delivery (DO2) were both calculated using standard formulae. Gastric interstitial pH and the gastroarterial partial pressure of carbon dioxide (PCO2) gradient were measured with a gastric tonometer. The following were determined from arterial blood samples: serum lactate to pyruvate ratio, serum 3-hydroxybutyrate to acetoacetate ratio, plasma free fatty acids, and plasma free and total carnitine levels. MEASUREMENTS AND RESULTS: Data were collected 1 h after induction of anesthesia (I), at the end of the anhepatic phase (A), and 1 h after reperfusion (R), Median (range) VO2 values obtained at the specified time points were: I 318 (206-1860), A 210 (152-408), R 330 (214-424) ml/kg per min, respectively (NS); DO2 values were: I 1828 (1382-3259), A 1219 (452-2492), R 1741 (1345-12,071) ml/kg per min, respectively (NS). The lactate to pyruvate ratio, reflecting the redox potential of the cytosol, progressively increased: I 22 (9-46), A 29 (16-68), R 43 (23-55), (p < 0.05). Gastric interstitial pH, as well as the gastroarterial PCO2 gradient values at the specified time points did not reach statistical significance. Levels of ketone bodies (3-hydroxybutyrate+acetoacetate) remained lower than 0.120 mmol/l. The ketone body ratio did not significantly vary over time (NS). Plasma esterified and free carnitine concentrations and free fatty acid values remained within normal limits (NS). Among these markers, the ketone body ratio presented the largest area under the receiver operating characteristic curve as a marker of postoperative mortality, with an inflexion point at 0.9. CONCLUSION: In this study, orthotopic liver transplantation was associated with significant variations over time in the redox potential of the cytosol. Postoperative mortality was, however, related to the redox state of the liver mitochondria. Our data suggest the occurrence of abnormal tissue oxygenation during liver transplantation.

3-Hydroxybutyric Acid↗
PubMed1998

Fatal enterovirus 71 encephalomyelitis.

During an outbreak of hand-foot-mouth disease caused by enterovirus 71 (EV-71) in 1997, 4 children presented with sudden cardiopulmonary collapse and minimal neurologic features. All children received cardiopulmonary resuscitation but died within a few hours of admission. Postmortem studies showed infection by EV-71 with extensive damage to the medulla and pons. We postulate an etiologic link between EV-71 and brainstem encephalomyelitis as the cause of pulmonary edema and death.

Child, Preschool↗
PubMed1998

Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.

OBJECTIVES: To describe the characteristics of lipoprotein lipase (LPL)-deficient patients seen in infancy and to evaluate the safety and efficacy of severe fat restriction. METHODS: Children <1 year old presenting with chylomicronemia between 1972 and 1995 were identified, and their clinical courses were reviewed retrospectively. RESULTS: LPL deficiency was demonstrated in 16 infants who presented with irritability (n = 7), lower intestinal bleeding (n = 2), pallor, anemia, or splenomegaly (n = 5), and a family history or fortuitous discovery (n = 2). All plasma samples were lactescent at presentation. Chylomicronemia responded rapidly to dietary fat restriction, and it was possible to maintain satisfactory metabolic control for a prolonged period of time. Only 1 adolescent girl had an episode of pancreatitis associated with the use of oral contraceptives. No persistent adverse effects on growth were seen. We obtained abnormal values for serum iron, alkaline phosphatase, and total calcium. CONCLUSIONS: The presentation of LPL deficiency is heterogeneous during infancy. Close dietary monitoring is required to avoid nutritional deficiencies. Estrogen therapy should be avoided in LPL-deficient patients.

Adolescent↗
PubMed1998

[Takayasu's arteritis: vascular investigations and therapeutic management. Experience with 16 patients].

PURPOSE: There is no consensus in regard to vascular explorations and therapeutical management of Takayasu's arteritis. The objective of this study was therefore to establish the most appropriate vascular explorations and to analyze current treatments. METHODS: Clinical, biological and morphological findings related to either diagnosis or treatment were retrospectively evaluated in sixteen patients diagnosed with Takayasu's arteritis according to the American College of Rheumatology criteria. RESULTS: Median delay between the occurrence of the first symptoms and the diagnosis was 9 months. Aortic lesions and aortic valvular incompetence were more frequent. Statistical analysis showed the existence of a correlation between the lack of relapse and corticosteroid therapy (Fisher exact test, P = 0.021). Percutaneous transluminal angioplasty led to stabilization of vascular lesions. Surgical management led to satisfactory results, except for patients with aortic lesions, as survival was then less than 1 year. CONCLUSION: Early diagnosis is mandatory in patients with Takayasu's arteritis in order to propose appropriate therapy, particularly corticosteroid therapy. Surgery and angioplasty prove to be useful in occlusive forms. Late diagnosis is accompanied by severe aortic lesions and fatal outcome.

Adult↗
PubMed1998

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

We describe variation at the PAH locus in the population of Quebec. We successfully analyzed 135 of 141 chromosomes from phenylketonuria (PKU) probands (95.7% of the sample), and eight additional chromosomes from a small number of probands with non-PKU hyperphenylalaninemia (HPA). The full set of chromosomes harboured 45 different PAH mutations: i) seven polymorphisms (IVS2nt19, IVS3nt-22, IVS6nt-55, Q232Q, V245V, L385L, Y414Y); ii) four mutations causing non-PKU HPA (T92I, E390G, R408Q, D415N); iii) 34 mutations causing PKU. Only six mutations (M1V, R261Q, F299C, S349P, R408W and IVS12nt1) occurred in the whole province at relative frequencies > 5%: most are rare and probably identical by descent. By studying associations of mutations with polymorphic haplotype alleles, we found examples of mutations on different haplotypes that were identical by state, but not by descent because they were recurrent mutations (E280K and R408W); and examples of mutations identical both by state and by descent because of intragenic recombination (S67P, G218V, V245A and IVS12nt1). Ten mutations were first described in Quebec and five are still unique there; three of these 'Quebec' mutations are reported here for the first time (c.125A-->T (K42I); [c.470G-->A; c.471A--C] (R157N); c.707nt-55 (IVS6nt-55). The PAH mutations stratify by geographic region and population, their distributions validating hypotheses about European range expansion to North America during three separate phases of immigration and demographic expansion in the Quebec region over the past four centuries. The PAH homozygosity value (j) is 0.06 for the total Quebec sample (0.5-0.08 by regions), and the corresponding homoallelic fraction of mutant PAH genotypes is 24%. These findings are a documentation of genetic diversity in the Quebec population.

Alleles↗
PubMed1998

Impact of ethnicity on the prevalence of psychiatric disorders among migrants in Germany.

OBJECTIVES: Studies on psychiatric disorders among migrants have described higher rates, especially of schizophrenia. Some evidence points to the possibility of misdiagnosis for this higher rate; other studies point to the underrepresentation of migrants in psychiatric services, leading to artefactual epidemiological data. METHODS: All admission records of migrants to a psychiatric clinic from 1993 to 1995 were assessed for diagnosis, symptomatology and treatment. RESULTS: Admissions of 408 migrants, 8.1% of total admission, were assessed. Of these, 38.7% received a diagnosis of a schizophrenic disorder, significantly more than the other clinic patients. The mean age at admission was 34.0 years, at onset of illness 28.6 years and at time of migration 20.4 years. Only 8.3% were mentally ill at the time of migration. Language problems correlated with the diagnosis of a schizophrenic disorder. CONCLUSION: An underrepresentation of migrants shows differences in the use of psychiatric services. Some evidence from the mental status and reported language problems may explain the higher rate of schizophrenia due to misdiagnosis.

Adult↗
PubMed1998

Chronic aortic dissection masquerading as systemic disease.

We report two cases of chronic aortic dissection whose prominent features were characterized by systemic symptoms (prolonged low grade fever, fatigue, weight loss) and biological acute phase response. In the first patient, a surgical repair of the descending thoracic aorta aneurysm was performed, allowing the disappearance of general manifestations, whereas spontaneous resolution occurred in the second case. Although aortic dissection is usually an acute and highly symptomatic event, the disorder can present--albeit rarely--as systemic illness and fever of unknown origin.

Acute-Phase Reaction↗
PubMed1998

Antiviral activity of a selective ribonucleotide reductase inhibitor against acyclovir-resistant herpes simplex virus type 1 in vivo.

The present study reports the activity of BILD 1633 SE against acyclovir (ACV)-resistant herpes simplex virus (HSV) infections in athymic nude (nu/nu) mice. BILD 1633 SE is a novel peptidomimetic inhibitor of HSV ribonucleotide reductase (RR). In vitro, it is more potent than ACV against several strains of wild-type as well as ACV-resistant HSV mutants. Its in vivo activity was tested against cutaneous viral infections in athymic nude mice infected with the ACV-resistant isolates HSV type 1 (HSV-1) dlsptk and PAAr5, which contain mutations in the viral thymidine kinase gene and the polymerase gene, respectively. Following cutaneous infection of athymic nude mice, both HSV-1 dlsptk and PAAr5 induced significant, reproducible, and persistent cutaneous lesions that lasted for more than 2 weeks. A 10-day treatment regimen with ACV given topically four times a day as a 5% cream or orally at up to 5 mg/ml in drinking water was partially effective against HSV-1 PAAr5 infection with a reduction of the area under the concentration-time curve (AUC) of 34 to 48%. The effects of ACV against HSV-1 dlsptk infection were not significant when it was administered topically and were only marginal when it was given in drinking water. Treatment under identical conditions with 5% topical BILD 1633 SE significantly reduced the cutaneous lesions caused by both HSV-1 dlsptk and PAAr5 infections. The effect of BILD 1633 SE against HSV-1 PAAr5 infections was more prominent and was inoculum and dose dependent, with AUC reductions of 96 and 67% against infections with 10(6) and 10(7) PFU per inoculation site, respectively. BILD 1633 SE also significantly decreased the lesions caused by HSV-1 dlsptk infection (28 to 51% AUC reduction). Combination therapy with topical BILD 1633 SE (5%) and ACV in drinking water (5 mg/ml) produced an antiviral effect against HSV-1 dlsptk and PAAr5 infections that was more than the sum of the effects of both drugs. This is the first report that a selective HSV RR subunit association inhibitor can be effective against ACV-resistant HSV infections in vivo.

Acyclovir↗