[Final height in Turner syndrome treated with growth hormone].
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Adolescent↗
Biomedical subjects
B Leheup
Publications and source records attributed to B Leheup.
Intrinsic factor receptor during fetal development of the human intestine.
Intrinsic factor receptor activity was observed in mucosal homogenates from whole small intestine and colon of 10-19-week fetuses, whereas it was only detected in the distal part of the small intestine of a 25-week fetus. The receptor-intrinsic factor-cobalamin complex was eluted into the void-volume position when ileum mucosal extract was assayed for receptor activity by gel filtration after incubation with either fetal gastric extract or human gastric juice. The intrinsic-factor-binding capacity of intestinal mucosal extracts ranged from 2.6 to 30.5 fmol/mg and was correlated with the gestational age of six fetuses. The dissociation constant of the receptor for the intrinsic factor-cobalamin complex was estimated at 0.24-0.36 nM at pH 7.4. In conclusion, intrinsic-factor-receptor activity was detected in the whole intestine in 10-19-week fetuses, whereas it was only present in the distal ileum at the end of fetal development.
Chromatography, Gel↗
The plasma membrane of epididymal epithelial cells has a specific receptor which binds to androgen-binding protein and sex steroid-binding protein.
The binding of [3H] delta 6-testosterone photoaffinity-labelled rat androgen-binding protein (rABP) has been studied in an enriched fraction of plasma membranes of epithelial epididymal cells in immature (15 days) and adult rats (40 days). The binding was maximal in less than 30 min and more rapid at 4 degrees C than at 34 degrees C. It was calcium and pH dependent. Scatchard plots of the binding data gave curvilinear plots with two types of binding sites corresponding to a K(ass1) of 18.2 nM-1 and K(ass2) of 1.6 nM-1 (2.2 x 10(11) sites/mg protein and 5.4 x 10(11) sites/mg protein, respectively). In adult rats, only one type of binding site was found, with a K(ass) of 3.7 nM-1 (4.5 x 10(11) sites/mg protein). The number of receptors was 5-fold lower in the cauda than in the caput of the epididymis. The pretreatment of the isolated intact cells with streptozotocin induced a 45% reduction of the binding. Only unlabelled rABP and hSBP (human sex steroid-binding protein) but not other proteins (lactotransferrin, serotransferrin, asialofetuine, fetuine and bovine serum albumin) competed with the labelled ligand to bind plasma membranes. The membrane fraction was solubilized by triton X-100. Its incubation with labelled rABP and hSBP provoked the elution of the tracer as an aggregate into the void volume fraction of superose 6B mini-gel filtration columns. Structural homology between hSBP and rABP could be responsible for the common behaviour of the steroid-carrier molecules for the ABP receptor of rat epididymal epithelial cells.
Age Factors↗
Antibodies to choroid plexus in senile dementia of Alzheimer's type.
AIMS: To investigate whether autoantibodies to choroid plexus are present in human senile dementia. METHODS: Serum samples from 40 elderly people presenting with characteristic, diagnostic criteria of senile dementia of Alzheimer's type and 20 age matched healthy controls were tested by indirect immunofluorescence for the presence of autoantibodies to choroid plexuses, using frozen sections of rat or human fetal brain tissue. RESULTS: Significant labelling of choroid plexus basement membrane was observed in 17 of the 40 samples from patients with senile dementia; in the control series one sample of rat but not human plexus labelled positively (p < 0.01). CONCLUSIONS: The antibodies identified in this series of patients with Alzheimer's disease suggest that autoimmune mechanisms might be responsible for some of the changes in cerebrospinal fluid production described in this disorder.
Aged↗
Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.
In Turner patients, the presence of a Y chromosome or derivative Y is correlated with the risk of gonadoblastoma induction. "Marker" chromosomes originating from Y, may not show characteristic fluorescence and then be very difficult to identify by conventional cytogenetic techniques, although they still predispose the patients to gonadal tumors. Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, we screened 40 Turner patients (thirty seven 45X and three 45X,46XX) for the presence of Y chromosomal DNA. We were able to identify karyotypically unrecognized Y chromosome material in 1 patient out of the 40 studied. In this patient mild clinical and biological hyperandrogenism was observed. Reliability of our technique was ascertained by the detection of the expected 648 base pairs amplified DNA fragment in all normal male controls as well as in 3 Turner patients with confirmed 45X,46XY mosaicism. Despite the low frequency of unrecognized Y chromosome material (1 case over 40 in our experience), our data suggest that polymerase chain reaction of the gene from the sex-determining region of the Y chromosome is worthy of being performed in Turner patients considering the potential risk of the presence of a Y chromosome.
Adolescent↗
[LH-RH agonist in subjects treated with growth hormone for somatotropin deficiency. Development of growth velocity and prediction of body height].
The final adult height in patients with growth deficiency treated with growth hormone has been shown to depend upon pubertal development. This is mainly related to the shortening of puberty duration and accelerated bone maturation. A long acting analogue of gonadoliberin, Trp-6-GnRH, has been given to 17 patients with isolated growth hormone deficiency in order to delay pubertal progression. In seven of these patients, GH treatment and the analogue of Gn-RH were initiated simultaneously. The other 10 patients had been treated for more than one year with hGH at the onset of the analogue. Mean duration of treatment was 17 months. Annual growth rate was low in all cases. Statural progression was parallel to the delayed bone maturation without change in the ratio of statural maturation to bone maturation. No significant change in height prediction was observed after the combined treatment. Combination of the long-acting analogue of gonadoliberin, Trp-6-Gn-RH, with growth hormone in GH-deficient patients does not seem to be an appropriate way to improve final height after the onset of spontaneous puberty.
Adolescent↗
[Turner's syndrome is not what it was in the past].
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Adolescent↗
[General clinical aspects of growth during puberty].
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Adolescent↗
Evidence that androgen-binding protein endocytosis in vitro is receptor mediated in principal cells of the rat epididymis.
We have studied the binding of [125I-iodo]androgen-binding protein (ABP) and of [3H]delta 6-testosterone photoaffinity-labelled ABP to receptors in the plasma membrane of rat epididymal cells in three ways: ABP binding to a Triton X-100-solubilized membrane extract, ABP binding to isolated epithelial cells in suspension and autoradiography of segments of dissected epididymides after in-vitro intraluminal injection of labelled ABP. The binding of iodinated ABP to the receptor was similar to that of photoaffinity-labelled ABP in gel filtration. The ABP-receptor complex was eluted from Superose 6 gels as an aggregate, with a molecular mass of 2000 kDa. It was separated into two peaks by sucrose gradient ultracentrifugation, with respective sedimentation coefficients of 18.4 and 9.0 s. The activity of the receptor (ABP-binding capacity/mg protein) was tenfold higher in the caput than in the cauda. The binding of ABP to the receptor was pH dependent, being almost abolished at pH less than 4. The binding at 4 degrees C of photoaffinity-labelled ABP to epithelial cells corresponded to two types of binding sites. The numbers of high-affinity and low-affinity sites per cell were 1600 and 7700 respectively; the association constants of these sites were 67.9 and 2.8 litres/nM respectively. The binding was decreased by treatment of the cells with trypsin or incubation in the presence of EDTA. The binding in vitro of labelled ABP to the epididymis epithelium reached a maximum after about 20 min at 4 degrees C. In the autoradiographic study the tracer was found to be closely associated with coated pits, coated vesicles, endosomes and pale multivesicular bodies. Treatment of rats with cycloheximide significantly reduced the uptake of the tracer. Perfusion in vitro of epididymides with chloroquine produced a fourfold increase of the tracer in endosomes and multivesicular bodies.
Androgen-Binding Protein↗
[Dilatation of the cerebral ventricles diagnosed in utero. 85 case reports].
This study concerns a retrospective analysis of 85 case histories of pre-natal dilatations of the ventricles considered by a multi-disciplinary group whose aim it was to try and identify the most favourable features for prognosis that could be found in the whole of this pathological condition. The prognosis for ventricular dilatations found in utero is very poor. Only 36 of the 85 children were born alive. 16 of those died before they were two months old and of the survivors only 4 children developed normally. The least unfavourable elements that were found seem to be solitary areas of dilatation or the association of the dilatation with agenesis of the corpus callosum, late diagnosis, slow evolution and a ventricular-hemisphere ratio no more than 50% of the normal value. Early diagnosis should improve the methods of treating these patients. In order to achieve this, an ultrasound of the skull should be carried out in the fourth month and in the 26th week of pregnancy. Precise diagnosis must be made. A attempt should be made to work out the aetiology as completely as possible as well as to watch carefully how the condition is evolving. When death has occurred, the assessment should be compared with the autopsy results. Finally, the knowledge about the outcome of all these children should make it possible to criticize the decisions that have been taken for management.
Female↗
Prenatal echographic diagnosis of corpus callosum agenesis. The Nancy experience 1982-1989.
In this report we present the Nancy experience on the prenatal echographic diagnosis of corpus callosum agenesis in a consecutive series of 17 patients. The pitfalls and difficulties in the prenatal echographic diagnosis of ACC is emphasized. They are related with the particular development of the corpus callosum and the limitations of diagnostic procedures. Moreover, the variability of corpus callosum anomalies is illustrated, and the difficulties in establishing long term prognosis in the individual patient documented.
Abnormalities, Multiple↗
[Value of anthropometric techniques in pediatric otology].
The recurrent and severe infections of the ENT region during childhood are frequently related to cranio-facial malformations or/and deficiency of the immune system. The cranio-facial abnormalities are at risk to be complicated by transmission deafness either primary or secondary through recurrent middle ear infections. In our pediatric out-patient clinic, most of the patients suffering severe recurrent ENT problems show variable malformations: abnormal implantation or shape of the external ear, a microretrognathism, cervical or facial branchial fistulae, high or ogival palate with anomalies of the dental occlusion or a bifid uvula. All these abnormalities share their origins in a pathological development of the first branchial arch. These developmental anomalies may directly lead to deafness (especially due to an abnormal middle car ossicular development since they are derived in part from the first arch). They may also favor secondary pathologies (middle ear otitis, abnormal soft palate). Moreover the development of the immune system is also dependent of a normal function of the endoblastic epithelium of the pharyngeal pouches which is a part of the branchial system. Immune dysfunctions may therefore accentuate the severity of the ENT Infections.
Anthropometry↗
[Adynamia episodica hereditaria: Gamstorp's disease or Eulenburg's paramyotonia?].
Over seven generations owing 71 identified and studied persons, 18 (12 males and 6 females) suffered paroxystically adynamic paralysis or myotonic accesses. A such association is rare and according to the proeminent symptoms is denominated as hyperkaliemic periodic paralysis or as congenital paramyotonia. In the both forms of the diseases: cold injury, fasting, long time resting, or efforts are able to provoke crisis and so does an oral potassium loading. Studies on Ka+Na membrane permeability suggest the responsibility of Na+ K+ pump and may explain the physiopathology of the alternative manifestations at the muscle cellular level but may be are rather a marker than a cause of permeability disturbances. In the present family, some clinical, biological and electrophysiological arguments suggest the unicity of the disease. A better way to confirm that would be the localisation of a unique gene in the patient. DNA samples of several members are in study for molecular biology in the hope to precise a identical location. Some informations from molecular biologists suggest a probable location near the myotonic dystrophy (M.D.) in the 19 q12 but not identical with it.
Genes, Dominant↗
[Noonan's syndrome and its cardiovascular dysplasia. Apropos of 64 cases].
The multiple malformation syndrome described by Jacqueline Noonan in 1963 is one of the most commonly encountered syndromes in pediatric cardiology. The series presented here comprises 64 cases, 20% of which were familial. The morphotype can easily be recognized, but the variations and changes with age imply a detailed analysis of a wide range of discriminatory features. Cardiovascular lesions are very common and very specific, diffuse but above all characterized by "atypical" pulmonary stenosis, with dysplastic valves and a cardiomyopathy of the left ventricle, which is very particular, but also encountered in other polymalformation syndromes. Aortic lesions and dysplasia of other valves are not infrequent. The genetic mechanism is as yet unknown; at present, only certain hypotheses can be proposed.
Cardiomyopathy, Hypertrophic↗
[Stature after 18 months of treatment with synthetic growth hormone in 12 patients with Turner's syndrome].
The increased availability of recombined human growth hormone (rhGH) allows its possible use in clinical situations not classically recognized as regular indications. Among these, the Turner's short stature is presently under experimental evaluation for its responsiveness to rhGH. Twelve patients, 10 with a 45, X karyotype, 1 46 XXiq, and 1 mosaicism, have been given rhGH at a dosage of 0.15 U/kg per injection six times a week. Mean age at onset of treatment was 12.8, mean growth retardation was 4.1 SDS according to Sempé. After 18 months of treatment mean growth catch-up was 0.9 SDS. Maximal velocity was reach during the first trimester of treatment and decreased thereafter but was above normal for bone age in all but 2 after 18 months. The bone age increased less than structural age. No side effects were reported. At the present time the efficacy of rhGH in increasing final height in Turner's patients is likely but not demonstrated by any studies. The exact place of ovarian substitution, even during the prepubertal period, is still matter of discussion. Since the velocity response to rhGH was maximal among the youngest patients an early diagnosis of the syndrome will likely be necessary to improve final stature.
Adolescent↗
[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome].
Clinical and cytogenetic studies are performed on 14 patients with PWS including endocrinological investigations, as coagulation factor XI activity and pigmentation studies. Recent hypothesis from molecular analysis are discussed.
Abnormalities, Multiple↗
[Evaluation of short stature in boys: delayed growth or constitutional short size?].
When assessing a child with short stature it may be difficult to differentiate between delayed growth and adolescence and constitutional short stature, which usually provide a completely different prognosis of adult height. The growth data on 43 boys were retrospectively studied after they had reached adult height. Two groups were differentiated according to their final height, i.e. boys with delayed growth and adolescence; and boys with constitutional short stature. From these data a discriminant analysis was worked out that could be used as a means to facilitate the prediction of adult height in boys short stature.
Age Determination by Skeleton↗
[Bourneville's tuberous sclerosis].
Among the group of hereditary histodysplasia, Bourneville's tuberous sclerosis demonstrate original and important place. Its clinical and histopathological polymorphism make more difficult the diagnosis because many symptoms are non specific and/or appeared at different age of life. The variability of the expression and of the penetrance are a very serious unpeachement for the genetic counselling. A recent reevaluation of several series of case reports seems to demonstrate that the frequency of new mutations has been probably surestimated. The gene location in 9q3-4 is quite certain and will induce soon the possibility of a more efficient prenatal diagnosis. The gene action mechanism at the embryonic development is probably correlated with the "oncogene character" of the specific mutation.
Humans↗