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Biomedical subjects

M Tauber

Publications and source records attributed to M Tauber.

At least 19 recordsLinked to original sources
PubMed2001

Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome.

OBJECTIVE: Classical growth hormone insensitivity syndrome (GHIS) comprises a dysmorphic phenotype, extreme short stature (height SDS < 3), normal GH and low IGF-I and IGFBP-3. Wide clinical variation is recognised with classical and atypical forms. We aimed to delineate features of the milder "atypical" GHIS phenotype, and to determine whether this correlates with milder auxological and biochemical features. METHODS: Fifty-nine patients from a European series of 82 patients with GHIS, with strict diagnostic criteria of GHIS, were studied and assigned to classical or atypical GHIS groups according to facial phenotype, i.e. "classical" required 2 of 3 recognized GHIS features (frontal bossing, mid-facial hypoplasia and depressed nasal bridge), "atypical" required 0 or 1 of these facial features. Classical and atypical GHIS groups were compared in terms of (1) phenotypic features, including high-pitched voice, sparse hair, blue sclera, hypoglycaemia, microphallus, (2) birth length, height SDS, and (3) basal IGF-I, IGF-II, IGFBP-1, IGFBP-3, GHBP and increase in IGF-I on IGF-I generation testing. RESULTS: Fifty patients [24 males, 26 females, aged 8.6 +/- 4.6 years (mean +/- SD)] had "classical GHIS", 9 patients (7 males, 2 females, aged 7.8 +/- 4.1 years) had "atypical GHIS", 7 with normal facies. Atypical GHIS patients had lesser height deficit (Ht SDS -4.0 +/- 1.4) compared to classical GHIS (-6.7 +/- 1.4), less reduction in IGFBP-3 SDS (atypical -5.5 +/- 3.3; classical -8.6 +/- 2.4), and more had normal GHBP (>10% binding). Other variables were also less frequent in atypical GHIS patients: high-pitched voice 11% (70% classical), sparse hair 11% (42% classical), blue sclera 0% (38% classical), hypoglycaemia 11% (42% classical), and microphallus 14% (1 of 7 males), compared to 79% of classical (19 of 24 males). CONCLUSIONS: Atypical GHIS patients, with relatively normal facial appearance, demonstrate less height defect and biochemical abnormalities compared to classical patients. GH insensitivity may be present in children with short stature and an otherwise normal appearance.

Body Height↗
PubMed2000

Composition of lipids from sunflower pollen (Helianthus annuus).

The contents of the pollen lipids of the sunflower Helianthus annuus are described. The major component is the seco-triterpene helianyl octanoate, followed by new beta-diketones as second major group of compounds. They exhibit a shorter chain length and often other positions of the functional group compared to already known beta-diketones. Of particular note are the 1-phenyl-beta-diketones, not previously reported from nature. Further lipid classes present are related hydroxyketones and diols. Interestingly, new beta-dioxoalkanoic acids are present in the extracts, which most likely are biogenetic precursors of the diketones. Additionally, we investigated the composition of the pollen coat which resembles the total extract, but lacks the dioxoalkanoic acids and certain estolides.

Chromatography, Gas↗
PubMed2000

Infant-feeding patterns are related to blood cholesterol concentration in prepubertal children aged 5-11 y: the Fleurbaix-Laventie Ville Santé study.

OBJECTIVE: Several studies, mainly in animals, but also in humans, have shown that diet in infancy is associated with differences in blood cholesterol concentrations later in life. The objective was to examine this relationship in children aged 5-11 y after taking into account their current diet and parental hypercholesterolemia. SETTING AND SUBJECTS: 251 prepubertal boys and 223 prepubertal girls enrolled in the schools in two little towns in northern France. DESIGN AND METHODS: Cross-sectional evaluation including measurements of cholesterol concentrations on capillary blood and a single weekday food intake record. Infant feeding patterns were obtained by questionnaire given to the mothers. RESULTS: 50% of the children had been breast-fed for a median duration of less than 2 months. Cow's milk was introduced in the diet as whole milk for 33% of the children. After adjustment for age, height, and sibship, capillary cholesterol concentration was lower in boys who had been breast fed (geometric mean: 4.4, 95% confidence interval of the mean: 4.2-4.6 mmol/L) than in those fed with formula (4.7, 4.5-4.8 mmol/L, P<0.03). In girls, breastfeeding had no significant effect on blood cholesterol concentration, which was associated with the type of cow's milk given in infancy: whole milk: 4.9 mmol/L (4.7-5. 2); totally or partially skimmed milk: 4.5 mmol/L (4.2-4.6), P<0.008. The current saturated fat and cholesterol intakes and parental hypercyholesterolemia were associated with current blood cholesterol concentration in children, but did not modify its relationship with infant feeding patterns. CONCLUSION: Results of the present study suggest that diet in infancy may have longstanding effect on lipid metabolism. SPONSORSHIP: The study was supported by funds from Eridania Béghin-Say, Groupe Fournier, Lesieur and Nestlé France, Roche Diagnostic and of the MGEN (Mutuelle Générale de l'Education Nationale, contract INSERM-MGEN #9158) and a grant from the Association de Langue Française pour l'Etude du Diabète et du Métabolisme (ALFEDIAM). European Journal of Clinical Nutrition (2000) 54, 114-119

Animals↗
PubMed2000

Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children.

We report on the auxological and endocrine evolution of 28 patients presenting with Prader-Willi syndrome. Half of them received growth hormone (GH) therapy (group 2). The spontaneous auxological evolution was analyzed in the two groups from 2 to 8 years; the mean SDS for height remained stable (-0.6 +/- 0.6) in group 1 and decreased (from -2.0 +/- 0.9 to -2.7 +/- 0.6) in group 2. Magnetic resonance imaging showed marked pituitary hypoplasia in the two groups. In group 2, the mean GH peak after two provocative tests was 3.8 +/- 2.4 microg/l, the mean SDS values for insulin-like growth factor I levels were -2.0 +/- 1.5 (range from -0.5 to -5.0). The mean duration of GH treatment was 3.6 +/- 2.9 (range 1-9.3) years. 14 children completed 1 year of treatment. The two groups had opposite evolutions in Delta SDS for height (-0.8 +/- 0.8 vs. +1.1 +/- 0.8), for growth velocity (-1.9 +/- 2.2 vs. +2.9 +/- 2.7), and for Z score of the body mass index (+0.37 +/- 1.3 vs. -0.14 +/- 0.76; group 1 vs. group 2). This retrospective study shows that, in children with Prader-Willi syndrome and true GH deficiency, long-term GH therapy is effective in increasing growth velocity and in maintaining body mass index.

Adolescent↗
PubMed2000

Evaluation of cutaneous modifications in seventy-seven growth hormone-deficient children.

Cutaneous parameters such as dermal thickness, stiffness, elasticity, skin surface lipid and hydration were evaluated using noninvasive methods in 77 growth hormone-deficient (GHD) children before replacement therapy and in 70 non-GHD children. We showed that in GHD children, dermis was thinner (0.70 +/- 0.10 vs. 0.80 +/- 0.10 mm, p < 0.0001 for prepubertal children and 0.81 +/- 0.10 vs. 0.94 +/- 0.11 mm, p < 0.0001 for pubertal children), stiffer (178.5 +/- 57.3 vs. 113.09 +/- 37 kPa, p < 0.0001 for prepubertal children and 172.5 +/- 61.7 vs. 117.3 +/- 42.5 kPa for pubertal children, p < 0.001) and less elastic (0.44 +/- 0.09 vs. 0.39 +/- 0.06 (nonelasticity index), p < 0.01 for prepubertal children and 0.39 +/- 0.05 vs. 0.33 +/- 0.04, p < 0.001 for pubertal children) compared to controls. Fourteen GHD children were re-evaluated after 1 year of GH treatment: dermal thickness and skin stiffness were significantly improved (p < 0.001 and p < 0.05 respectively) while elasticity was not modified. During the same period, 11 controls did not show any significant cutaneous modification. IGF-1 values, but not IGFBP-3 values, correlated positively with dermal thickness in GHD children, before and after 1 year of GH treatment. To conclude, GHD children exhibited specific cutaneous modifications. In a subset of GHD children, we showed that these modifications were influenced by GH treatment. More extensive studies are needed to see if these changes correlated with other GH effects.

Adolescent↗
PubMed1999

The enigmatic foramen lacerum.

OBJECTIVE: The microanatomic details of the foramen lacerum and surrounding region are described to clarify the relationship between the internal carotid artery and the foramen lacerum. The terminology related to these structures is reevaluated. Examples of pathological abnormalities restricted to the foramen lacerum region are presented to document the clinical relevance of this region. METHODS: Microanatomic dissections were performed in 12 formalin-fixed cadaveric specimens. Bony landmarks were examined in 50 dry skulls. Microscopic sections of the region were obtained from cadaveric specimens that were formalin-fixed, decalcified, and processed for histological examination. RESULTS: The foramen lacerum is not a true foramen. No significant structures traverse its fibrocartilage. In this region, the bony and fibrous structures surround the internal carotid artery to form an incomplete canal, which serves as the rostral extension of petrous canal. CONCLUSION: The term foramen lacerum should be restricted to that portion of the cranial base at the confluence of the petrous portion of the temporal, basioccipital, and basisphenoid bones that in vivo is filled with fibrocartilage. The region immediately above the foramen lacerum, occupied by the internal carotid artery and traditionally considered the upper portion of the foramen lacerum, should be considered, anatomically and functionally, to be the rostral extension of the petrous canal. We suggest calling this extension the lacerum portion of the carotid canal.

Anatomy, Artistic↗
PubMed1999

Gonadotropin treatment of hypogonadotropic hypogonadal adolescents.

Testosterone substitution, needed for normal physical development in male hypogonadal adolescents, does not induce testicular growth. We treated 37 hypogonadal adolescents with gonadotropins (hCG/hMG), to obtain complete virilization during the first two years of treatment, to avoid psychological sequellae and to allow normal sexual development. Testicular volume increased significantly during therapy (from 1.98 +/- 1.2 to 9 +/- 3.3 ml), while testosterone rose from 0.26 +/- 0.04 to 5.3 +/- 0.8 ng/ml, with worse results in adolescents with cryptorchidism. hCG/hMG treatment had a better outcome than testosterone during the induction of puberty, avoiding psychological problems induced by atrophic testes. Further long term studies are necessary to evaluate whether early hCG/hMG treatment facilitates later spermatogenesis even in patients with cryptorchidism.

Adolescent↗
PubMed1998

Shift of visual fixation dependent on background illumination.

Visual fixation, the act of maintaining the eyes directed toward a location of interest, is a highly skilled behavior necessary for high-level vision in primates. In spite of its significance, visual fixation is not well understood; it is not even clear what attributes of the visual input are used to control fixation. Here we show, in four Macaca fascicularis monkeys, that the position the eyes assume during fixation depends on the luminance of the background. Dark background yields fixation positions that are shifted upward with respect to the fixation positions obtained with a dimly illuminated, featureless background. This phenomenon was observed previously in a nutshell by Snodderly; here first we rigorously establish its existence by testing proper controls. We then study the properties of this upshift of the fixation position. We show that, although the size of the upshift varies between monkeys, for all monkeys the upshift is larger than the radius of the fovea. Hence, if the background is dim, the eyes are positioned during fixation so that the target does not fall on the fovea. The size of the upshift remains almost unchanged while the eyes fixate at different orbital positions; thus the upshift is not caused by orbital mechanics. The upshift clearly is present even at the first days of training, but with additional training in fixation with dark background, the upshift increases in size. The upshift rotates with the head. The upshift increases gradually with decreasing levels of background luminosity. Luminosity, not visual contrast, is indeed the primary variable determining the size of the upshift. The contribution of a unit area of the retina to the upshift decreases as inverse square root of distance from the target; therefore, it is the perifoveal region of the retina that mostly contributes to the upshift, while the far periphery has little influence. The upshift can be induced or be canceled in the midst of a fixation by changing the background illumination; hence, the upshift is indeed an attribute of the fixation control system. Finally, the fixation-upshift studied here is different from a previously reported upshift of the endpoints of memory-guided saccades with respect to their target locations. These two types of upshift add up to each other. In discussing the function of the upshift, we note a possible morphological analogue with the retinal rod distribution. The upshift moves the line of gaze to a point intermediate between the fovea and the "dorsal rod peak." The upshift thus may improve visual acuity in scotopic conditions. The brain structure in which the upshift is generated must be involved in both ocular control and visual sensation. We consider several possibilities, of which we regard as the most likely the cerebellum and superior colliculus.

Animals↗
PubMed1998

Growth hormone, insulin-like growth factor-I and insulin-like growth factor binding protein-3 are regulated differently in small-for-gestational-age and appropriate-for-gestational-age neonates.

Growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) were measured in 90 neonates during the first 5 days of life. Twenty-six small-for-gestational-age (SGA) neonates were compared with 64 appropriate-for-gestational-age (AGA) neonates. There were no differences in nutritional status between the 2 groups. Mean GH levels were significantly higher in the SGA group (53.4 +/- 30.8 vs. 39.9 +/- 23.3 microg/l; p < 0.05). In both groups GH levels correlated with birth weight (expressed as SDS) but not with gestational age. IGF-I levels were significantly lower in SGA neonates (6.6 +/- 4.0 vs. 11.7 +/- 8.2 ng/ml; p < 0.01). In SGA neonates with short stature, IGF-I levels were lower and GH levels were higher than in normal stature SGA neonates. IGFBP-3 levels were significantly lower in SGA neonates than in AGA neonates (0.72 +/- 0.40 vs. 0.98 +/- 0.43 microg/l; p < 0.01). IGF-I and IGFBP-3 correlated with gestational age in AGA but not in SGA neonates and there was no correlation with birth weight in either group. Our data provide evidence for a graduation in the severity of impact of fetal 'malnutrition' on the somatotropic axis and on intrauterine growth. The most severe state (SGA with short stature) was associated with a GH-resistance syndrome, characterized by very low IGF-I levels and high GH levels.

Body Height↗
PubMed1997

Human growth hormone receptor: cloning and expression of the full-length complementary DNA after site-directed inactivation of a cryptic bacterial promoter.

Growth hormone receptor is a cytokine-type receptor which is required for normal somatic growth and for numerous metabolic processes. Its complementary DNA (cDNA) has been isolated in various species leading to intensive studies to elucidate the mechanism of action of the growth hormone. However, serious difficulties have been reported in cloning in Escherichia coli, an intact full-length human cDNA. In this study, the cDNA is shown to contain a cryptic bacterial promoter driving inappropriate expression of a part of human growth hormone (hGH) receptor which is toxic for E. coli growth. Identification of this promoter and its inactivation by changing only one nucleotide led us to obtain stable bacterial clones containing a high copy number of full-length coding sequences. This molecular clone was used in a baculovirus/insect cell system to produce large amounts of glycosylated recombinant receptor. Binding studies with 125I-labelled hGH revealed an affinity constant of 2.8 x 10(9) M(-1), similar to that reported for the native liver receptor. This report described a general method of cloning which could be applied to similar unclonable cDNA fragments.

Animals↗
PubMed1997

The abused drug MDMA (Ecstasy) induces programmed death of human serotonergic cells.

The widely abused amphetamine analog 3,4-methylenedioxymethamphetamine (MDMA, also called "ecstasy") induces hallucination and psychostimulation, as well as long-term neuropsychiatric behaviors such as panic and psychosis. In rodents and monkeys, MDMA is cytotoxic to serotonergic neurons, but this is less clear with humans. Herein, MDMA was cytotoxic to human serotonergic JAR cells; it altered the cell cycle, increased G2/M phase arrest, and induced DNA fragmentation in a cycloheximide-sensitive way. This apoptosis was not observed in nonserotonergic human NMB cells. The stereospecific effect of amphetamines in JAR cells, and the key role of NO and dopamine in MDMA-induced apoptosis were determined. The relevancy of MDMA-induced cell death to drug users is discussed.

Apoptosis↗
PubMed1997

Anterior petrosectomy approach to infraclinoidal basilar artery aneurysms: the emerging role of the neuro-otologist in multidisciplinary management of basilar artery aneurysms.

Aneurysms of the basilar artery are uncommon. Historically, because of the central location of these basilar lesions, surgical access has been difficult. Moreover, while this disease and its surgical management inherently carry a high risk of patient morbidity, the presence of neighboring vital neural and vascular structures introduces additional intraoperative challenges. Since 1986 we have employed a transpetrous approach for access to selective aneurysms involving the basilar artery. Removal of the petrous apex has provided an expanded deep window through which infraclinoidal basilar artery aneurysms can be controlled. Reported herein are our results utilizing an anterior petrosectomy approach to the management of infraclinoidal artery aneurysms.

Adult↗
PubMed1997

Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome?

Isolated peripheral precocious puberty due to recurrent ovarian cysts evokes a McCune-Albright syndrome (MAS). This syndrome associates endocrine dysfunction such as precocious puberty, polyostotic fibrous dysplasia, and "café-au-lait" skin lesions. We report the case of a 3-y-old girl who presented with peripheral puberty with extremely elevated oestradiol level, low LH and FSH levels, and an ovarian cyst that quickly resolved. Skeletal X-rays were normal and she had no café-au-lait spots. GnRH analogue treatment was ineffective. A second ovarian cyst appeared and was completely drained under ultrasonographic guidance. Molecular biological analysis performed on fluid cells revealed the Arg201-->His mutation of the Gs alpha gene described in MAS. Percutaneous aspiration of simple ovarian cyst to detect "MAS" mutation is of interest in the diagnosis of recurrent ovarian cyst.

Child, Preschool↗