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Biomedical subjects

E Simon

Publications and source records attributed to E Simon.

At least 19 recordsLinked to original sources
PubMed2006

Variant maple syrup urine disease (MSUD)--the entire spectrum.

BACKGROUND: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the patients suffer from non-classic variant forms of MSUD of different clinical severity. AIM: Up to now variant cases have mostly been published as individual case reports; the aim of this study was to give a comparative description of 16 individuals (aged 6-30 years) with different forms of variant MSUD. METHODS: Laboratory data, information on clinical course and treatment as well as aspects of developmental, intellectual and social outcome were obtained retrospectively. Data from in vitro and in vivo methods measuring the degree of enzyme deficiency were included. RESULTS: In addition to a mild phenotype, which fits well into the so-called intermittent variant, and a more severe phenotype with a wider range from a mild variant to an almost classic form, which fits well into the so-called intermediate variant, we assume the existence of an asymptomatic, non-disease variant of MSUD. These clinical phenotypes are not unambiguously differentiable on the basis of biochemical parameters. CONCLUSION: A continuum of clinical severity from asymptomatic to very severe (border to classic) exists in variant MSUD. Apart from newborns with classic MSUD, also those with variant forms benefit from early diagnosis and start of adequate treatment.

Adolescent↗
PubMed2006

Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.

BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is characterised by troublesome maternal pruritus, raised serum bile acid levels and increased fetal risk. Mutations of the ABCB4 gene encoding the hepatobiliary phospholipid transporter have been identified in a small proportion of patients with cholestasis of pregnancy. In a recent prospective study on 693 patients with cholestasis of pregnancy, a cut-off level for serum bile acid (> or =40 micromol/l) was determined for increased risk of fetal complications. OBJECTIVES: To investigate whether common combinations of polymorphic alleles (haplotypes) of the genes encoding the hepatobiliary ATP-binding cassette (ABC) transporters for phospholipids (ABCB4) and bile acids (ABCB11) were associated with this severe form of cholestasis of pregnancy. METHODS: For genetic analysis, 52 women with bile acid levels > or =40 micromol/l (called cases) and 52 unaffected women (called controls) matched for age, parity and geographical residence were studied. Gene variants tagging common ABCB4 and ABCB11 haplotypes were genotyped and haplotype distributions were compared between cases and controls by permutation testing. RESULTS: In contrast with ABCB11 haplotypes, ABCB4 haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the ABCB4 gene variants. Specifically, haplotype ABCB4_5 occurred more often in cases, whereas haplotypes ABCB4_3 and ABCB4_7 were more common in controls. These associations were reflected by different frequencies of at-risk alleles of the two tagging polymorphisms (c.711A: odds ratio (OR) 2.27, p = 0.04; deletion intron 5: OR 14.68, p = 0.012). CONCLUSION: Variants of ABCB4 represent genetic risk factors for the severe form of ICP in Sweden.

ATP Binding Cassette Transporter, Subfamily B↗
PubMed2006

[Facial fat: descriptive and functional anatomy, from a review of literature and dissections of 10 split-faces].

The aim of this study is to describe the anatomy of the fat in the face, based on a review of the literature and dissections of 10 half-faces. The facial fat can be divided in two layers. The first-one is superficial, between the skin and the superficialis fascia. Its function is essentially protective and its morphological implications are major, especially according to the facial aging. The other layer is deep, under the superficialis fascia. Its principal function is mechanical and its morphological implications are less important. This layer is made of several fat pads in continuity, excepted the buccal fat pad which is separated from the others by its own capsula. The other fat pads are the intra orbialis fat pad, the sub orbicularis oculi fat pad (SOOF), the retro orbicularis oculi fat pad (ROOF), the galeal fat pad and the temporal fat pad.

Adipose Tissue↗
PubMed2006

Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.

BACKGROUND: In the rare autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids and their metabolic products results in acute and chronic brain dysfunction. Since 2002, MSUD has been part of the extended newborn screening programme in Germany and Austria. Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD. AIM: The aim of the study was to evaluate the clinical course and alterations of marker metabolites during the first weeks of life in 10 patients with classical MSUD detected by newborn screening (NBS) in comparison with the 10 youngest German patients diagnosed clinically. METHOD: Laboratory data as well as information on clinical course and management during the neonatal period were obtained retrospectively. RESULTS: Patients detected in NBS presented with lower plasma leucine concentrations at confirmation of diagnosis and less severe clinical symptoms. Lowering of leucine to below a critical threshold of 1000 micromol/L was achieved earlier than in patients diagnosed on clinical grounds. CONCLUSION: After diagnosis in screening, treatment can be initiated before the occurrence of severe metabolic decompensation. However, a favourable effect can only be achieved with immediate transfer of the neonate to a metabolic centre for adequate treatment in case of a positive screening result.

Amino Acids, Branched-Chain↗
PubMed2006

[Contribution of the pathology examination in the operating theatre in patients with skin cancer: retrospective analysis of 388 patients].

INTRODUCTION: Pathological examination in the operating theatre in patients undergoing resection of a skin cancer is one of the most adapted therapeutic approaches. We present our experience with 388 patients, comparing the rate of recurrence with or without operating-theatre pathological examination. MATERIAL AND METHOD: The study population included 388 patients, mean age 69.5 years (28-98 years) who underwent resection of 544 skin tumors (520 primary and 36 recurrent), 76.6% unique tumors. The pathological examination of the surgical specimen was performed immediately after removal. This method was systematic procedure for spinocellular carcinomas, was not performed for basocellular carcinomas measuring less than 1 cm when well circumscribed and not peri-orifice, and when reconstruction was not planned. RESULTS: The pathological examination was not performed in the operative theatre for 76 tumors; for 470 examinations performed in the operative theatre, at least one surgical margin was positive in 93 (19.8%). Anatomic regions concerned most were the tip of the nose and the eyelids. Recurrent tumors (5.0% of resections) accounted for 27% of the positive pathological results. Thirty-one patients had to have revision surgery, four after a false negative on the pathological examination performed in the operative theatre, four patients for a healing problem and 23 because of tumor recurrence (4%). DISCUSSION: Pathological examination in the operative theatre can help decrease the rate of recurrence in comparison with classical surgery using empiric margins. This method is reliable if performed by an experienced pathologist so that reconstruction can be undertaken before the definitive pathological results are obtained, improving patient comfort. These therapeutic options have a cost however in terms of equipment and personnel. Indications should be well chosen and balanced against the advantages of a two-phase classical procedure.

Adult↗
PubMed2006

[Hypertrophic diseases of facial fatty tissue].

Based on our own experience and a review of the literature, we des-cribe hypertrophic diseases concerning the fatty tissue of the face. Pathological patterns are numerous and polymporphous. Fatty localizations involving the face may be associated or not with specific histological presentation.

Adipose Tissue↗
PubMed2006

Structure and giant magnetoresistance behaviour of Co-Cu/Cu multilayers electrodeposited under various deposition conditions.

Electrodeposited Co-Cu/Cu multilayers were prepared under a variety of deposition conditions on either a polycrystalline Ti foil or on a silicon wafer covered by a Ta buffer and a Cu seed layer. X-ray diffraction (XRD) revealed a strong (111) texture for all multilayers with clear satellite peaks for the multilayers on Si/Ta/Cu substrates, in some cases for up to three reflections. Cross-sectional transmission electron microscopy investigations indicated a much more uniform multilayer structure on the Si/Ta/Cu substrates. The bilayer periods from XRD satellite reflections were in reasonable agreement with nominal values. An analysis of the overall chemical composition of the multilayers gave estimates of the sublayer thickness changes due to the Co-dissolution process during the Cu deposition pulse. The XRD lattice spacing data indicated a behaviour close to a simple "multilayer" Vegard's law which was, however, further refined by taking into account elastic strains as well. In agreement with the structural studies, magnetoresistance data also indicated the formation of more perfect multilayers on the smooth Si/Ta/Cu substrates. An analysis of the magnetoresistance behaviour revealed the presence of superparamagnetic (SPM) regions in the magnetic layers. The contribution of these SPM regions to the total observed giant magnetoresistance was found to be dominating under certain deposition conditions, e.g., for magnetic layer thicknesses less than 1 nm (about 5 monolayers).

Cobalt↗
PubMed2006

Comparison of mantoux skin test with three generations of a whole blood IFN-gamma assay for tuberculosis infection.

SETTING: A rural town in South Africa. OBJECTIVE: To compare the performance of Quanti-FERON assays with the tuberculin skin test (TST) for identifying latent tuberculosis infection (LTBI) in a high TB burden community. DESIGN: In a cross-sectional study in healthy adults, we applied the TST and took blood for the three generations of QuantiFERON assays. RESULTS: Of 358 participants whose results were analysed, 291 (81%) had a TST result of > or = 10 mm induration, and 187 (52%) > or = 15 mm. QuantiFERON-TB was positive in 215 (60%), QuantiFERON-TB Gold in 137 (38%), and QuantiFERON-TB Gold (In-Tube method) in 201 (56%). There was poor agreement between TST and QuantiFERON tests, and between the different generations of QuantiFERON tests (kappa = 0.12-0.50). Of the subset with TST indurations > or = 15 mm, 30-56% had negative QuantiFERON tests. However, positive Quanti-FERON tests were associated with males, who have a higher incidence of TB in this area. CONCLUSION: We showed poor agreement between TST and the different QuantiFERON tests in diagnosing LTBI. The surprising discordance between the Quanti-FERON TB Gold and QuantiFERON TB Gold (In-Tube method) tests needs to be investigated further.

Adolescent↗
PubMed2006

Federating distributed and heterogeneous information sources in neuroimaging: the NeuroBase Project.

The NeuroBase project aims at studying the requirements for federating, through the Internet, information sources in neuroimaging. These sources are distributed in different experimental sites, hospitals or research centers in cognitive neurosciences, and contain heterogeneous data and image processing programs. More precisely, this project consists in creating of a shared ontology, suitable for supporting various neuroimaging applications, and a computer architecture for accessing and sharing relevant distributed information. We briefly describe the semantic model and report in more details the architecture we chose, based on a media-tor/wrapper approach. To give a flavor of the future deployment of our architecture, we de-scribe a demonstrator that implements the comparison of distributed image processing tools applied to distributed neuroimaging data.

Databases as Topic↗
PubMed2005

[Coverage an irradiated wound of the lower lumbar area with a latissimus dorsi musculocutaneous free flap by lengthening the vascular pedicle with interpositional vein grafts].

Reconstruction of radionecrosis of the lower lumbar area is a challenging problem because of the difficulty of mobilization of the irradiated local tissues, absence of a reliable locoregional procedures and prolongation of the receiving vessels of the free flaps. The ideal treatment is a wide excision of the irradiated tissues and an immediate reconstruction in one step, which is better to be done by using a musculocutaneous flap. The latissimus dorsi musculocutaneous flap is ideal for this indication. The authors prefer to do the revascularization of the latissimus dorsi flap by its'thoracodorsal pedicle because of the possibility to have a high pressure blood flow which allow to use long venous bypass, the exposure of the recipient vessels at the same time of dissecting the flap and to have the anastamosis site away from the irradiated tissue. The authors are presenting their experience in treating a case of radionecrosis in the lower lumbar region with exposed vertebrae by a latissimus dorsi musculocutaneous free flap with exposed vertebrae by a latissimus dorsi musculocutaneous free flap with the lengthening of its'pedicle by two 30 cm interposition saphenous vein grafts.

Follow-Up Studies↗
PubMed2005

[Goal cell carcinoma: really a low malignancy tumor?].

Although basal cell carcinoma often presents as a fairly "benign" lesion early in its course, it remains the most frequent malignancy worldwide. Prevention, while possible, is not always optimal. We show that advanced basal cell carcinoma can be mutilating or even life threatening depending on location, type of lesion, or pre-existing co-morbidity. The consequences of this disease can be lessened if initial treatment does not underestimate its potential severity.

Basal Cell Carcinoma↗
PubMed2005

Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis.

We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual. Four of our patients presented with slight retardation of puberty followed by stagnation. Most importantly the development of the breast (Tanner stage 2-4) did not correspond with pubic hair stage (Tanner stage 4). The patients can be classified as virilized phenotypical females. Serum testosterone was detectable in three, estradiol in two patients. None of the gonadoblastomas showed immunoreactivity with antibodies against steroid hormone receptors and against testosterone and estradiol, respectively. Probably the immature cells are able to produce steroid hormones. Only steroid-like cells with Leydig cell appearance showed positive cytoplasmatic immunostaining for testosterone in three patients. The findings in our patients underline that dysgenetic gonads must be removed as early as possible to prevent development of malignant tumors.

Adolescent↗
PubMed2004

Microsurgical lip replantation: evaluation of functional and aesthetic results of three cases.

Lip amputations are rare, and microsurgical replantation must be systematically tried to restore form and function in one step. The authors present a series of three cases. Revascularization of the amputated segment was obtained by arterial anastomosis with the corresponding labial coronary artery. No venous anastomosis was carried out, because no vein could be identified. Venous drainage was obtained by inducing bleeding and by postoperative application of leeches for 6 days. Anticoagulant therapy and antibiotherapy were used for 10 days. With this approach, two lip amputations were completely saved, and a third amputation only suffered partial necrosis. Aesthetic and functional results were evaluated as being good, with reestablishment of labial continence and recovery of protective sensitivity.

Adult↗
PubMed2004

[Principles of treatment of total unilateral cleft lip and palate. Suggested protocol].

Complete uni-lateral cleft palates resulting from failed union between internal and external nasal buds cause an imbalance of both superficial and deep nasal structures. After summarizing the principles that should guide the care of these anomalies, the authors present their therapeutic procedure, in which orthopaedic and surgical treatments are intimately associated. They conclude their presentation by emphasizing the difficulty of predicting the definitive result because of the extreme diversity of the sequellae that always accompany the treatment of cleft palates.

Alveolar Process↗
PubMed2004

The usefulness of using Ramfjord teeth in predicting periodontal status of a Tanzanian adult population.

OBJECTIVES: The only partial mouth index that has been validated against full-mouth examinations in the East African population is the CPITN (Community Periodontal Index of Treatment Needs). Since the Ramfjord index can potentially shorten the examination time by almost half, we evaluated Ramfjord teeth in predicting full-mouth periodontal status of an adult population in Tanzania. MATERIAL AND METHODS: Pocket depth was measured for 192 consecutive patients aged from 15 to 77 years (36 years old on average); 86 (45%) females referred to the Department of Restorative Dentistry, Muhimbili National Hospital, Tanzania between January 1997 and December 1999, and the mean pocket depth for full-mouth and Ramfjord teeth was calculated. RESULTS: The correlation between the mean pocket depth calculated from the full-mouth and Ramfjord teeth was 0.96. The beta coefficient for the mean pocket depth measured by Ramfjord teeth to predict the full-mouth mean was 0.94, and was not affected by adjustment for age, missing teeth or sex. CONCLUSION: This overall high agreement between Ramjford teeth and full-mouth periodontal pocket situation confirms the epidemiological validity of Ramfjord's dental sample in our setting.

Adolescent↗
PubMed2003

When might hemispheric favouring of epileptiform discharges begin?

PURPOSE: EEG studies based on adult populations report interictal epileptiform discharges (EDS) favour the left hemisphere. It is not clear when favouring becomes apparent as similar paediatric studies have not been performed. METHODS: The authors reviewed 1,579 paediatric EEG interpretations for evidence of hemispheric favouring of focal epileptiform discharges. Analysis focused on first-time EEG results. RESULTS: Right hemispheric favouring of interictal epileptiform discharges occurs in childhood, it remits around 5 years of age whereupon left-sided favouring occurs more frequently (P=0.004, Fisher's Exact). CONCLUSION: Hemispheric vulnerabilities to interictal focal epileptiform activity may display discrete age-related favouring. These findings are discussed in context of normal hemispheric maturation.

Adolescent↗