Biomedical subjects

Catherine Garel

Publications and source records attributed to Catherine Garel.

7 recordsLinked to original sources

PubMed2003

Severely delayed epiphyseal ossification dysplasia with normal stature.

We report on a pair of dizygotic twins born to consanguineous parents, showing an extreme delay in skeletal maturation (roughly corresponding to the time of birth at the age of 4 10/12 years), mild metaphyseal irregularities, and normal to large stature (+ 1 to + 2 SD) with normal growth pattern, long fingers, generalized small joint hyperlaxity with flat feet, genua valga, and low normal intellectual development. This disorder was not associated with abnormal endocrine function or abnormal Ca/P metabolism. This epiphyseal disorder is compatible with autosomal recessive inheritance.

Body Height↗

PubMed2003

Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination.

PURPOSE: Up until the last 10 years, normal cerebral gestational landmarks were assessed by ultrasonographic and fetopathologic studies. The purpose of this paper is to display the possibilities provided by fetal MRI in the evaluation of fetal cerebral biometry, normal sulcation and myelination. METHODS: Two hundred and twenty-five fetuses (with a normal brain) were studied prospectively using a standardised method. The gestational age ranged from 22 to 38 weeks. The main data concerning biometry of various cerebral structures at those terms are given. DISCUSSION: In contrast to ultrasound, MRI allows measurements of brain (and not skull), which are available independently of the position of the fetal head. The timing of the appearance of the different sulci is also available using MRI. It is considered to be a good marker of fetal brain maturation. The biochemical modifications contemporary to myelination make it possible to evaluate this phenomenon in the fetal brain using MRI.

Aging↗

PubMed2003

Ventricular dilatations.

INTRODUCTION: Ventricular dilatation is generally defined on ultrasounds (US) or MRI as an atrium larger than 10 to 12 mm on axial or coronal planes. After 22 weeks, this measure is independent of the term. METHODS: In the view of the prognostication, it is of utmost importance to not only calculate the width of the ventricles but also to estimate the progression of the ventriculomegaly, and to look for associated structural or genetic anomalies. In this respect, it is essential to study the shape, thickness, echogenicity or signal (on MRI) of the ependymal lining, to appreciate the echoic or radiological characteristics of the ventricular content, to search for brain malformations, to calculate the biparietal diameter, head circumference and width of the subarachnoid spaces, to know the karyotype and to search for fetal infection or extracranial malformation. Complete US evaluation, MRI, and amniocentesis must therefore be part of the routine check-up of these fetuses. DISCUSSION: The prognosis is still debated. It is usually considered to be poor in cases of associated malformations or brain insult, tri- or tetraventricular enlargement and karyotype anomalies. On the contrary, it is generally considered as good when ventriculomegalies are isolated, biventricular, stable, slowly evolving or regressive. CONCLUSION: The relationship between the size of the ventricles and the uni- or bilateral character of the dilatation are still a matter of debate.

Amniocentesis↗

PubMed2003

Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroidism with thyroid dysgenesis.

Congenital hypothyroidism (CH) is most frequently caused by thyroid developmental abnormalities, and it has recently been shown to have a familial component with members affected by either CH or asymptomatic thyroid developmental abnormalities. The pathogenesis of the disease is unknown, but it seems possible that a common genetic mechanism underlies these heterogeneous phenotypic expressions. Associations among these anomalies in the same individuals have occasionally been described. The aim of this study was to investigate whether cysts of the thyroglossal duct could be shown by ultrasonography in patients with CH caused by thyroid dysgenesis. Children with CH (n = 57) who were diagnosed by newborn TSH screening were prospectively evaluated by ultrasonography at the age of 10.5 +/- 4.5 yr. The etiology of CH (ectopic thyroid tissue, n = 42; athyreosis, n = 15) was established before treatment initiation on the basis of thyroid radioiodine scanning and the absence of any thyroid tissue in the normal location confirmed by ultrasonography. Cysts were found in 39 patients (68% of cases) with either ectopic thyroid tissue (n = 29) or athyreosis (n = 10). All cysts were located in the empty thyroid area in the left (57%) or right (43%) side and were mostly closer to the midline. Patients had either a single cyst (n = 16 patients) or multiple cysts (n = 23 patients). The cysts were bilateral in 17 of the 39 patients. Most of them were vertically oval or round, with a size ranging in diameter from 2-21 mm (mean, 3.5 +/- 2). In conclusion, the presence of cysts within the empty thyroid area in 68% of patients with CH due to thyroid dysgenesis is a novel observation that is part of the developmental anomaly of this disease. Several explanations can be put forward to explain the presence of these cysts. They might be due to the persistence of the ultimobranchial bodies as a cystic structure or part of the thyroid-forming material, which may migrate along the normal pathway of the usual course of the thyroglossal duct, giving rise to cell residues within the empty thyroid area.

Adolescent↗

PubMed2003

Presence of magnetic resonance imaging abnormalities of the hypothalamic-pituitary axis is a significant determinant of the first 3 years growth response to human growth hormone treatment in prepubertal children with nonacquired growth hormone deficiency.

OBJECTIVE: The factors influencing the highly variable growth response to GH treatment in GH-deficient children are not fully understood. Despite a real benefit with GH treatment in term of growth response, most of these patients attain a mean adult height below their target height and the strategy to optimise final height has to be improved. The aim of this study was to investigate whether the presence of congenital abnormalities of the hypothalamic-pituitary axis on magnetic resonance imaging (MRI) could be a determinant of the growth response in nonacquired prepubertal GH-deficient children, and to identify which pretreatment variables most significantly affect the first 3 years growth response to human GH (hGH) therapy. PATIENTS AND METHODS: The growth response to hGH treatment (0.55 +/- 0.1 IU/kg/week) was evaluated in 69 prepubertal children with nonacquired GH deficiency, according to the absence (group A: chronological age = 4.8 +/- 2.4 years, n= 37) or the presence (group B: chronological age = 3.4 +/- 2.7 years, n= 32) of developmental abnormalities on cerebral magnetic imaging and, after controlling for GH dose, age, height, height velocity (SDS) and body mass index at start of treatment, maximum stimulated GH peak concentration, GH deficiency type (isolated vs. multiple deficiency), parental height, size at birth and sex. RESULTS: After 3 years of treatment, the mean height gain was significantly higher in patients of group B vs. group A (2.2 +/- 1.3 vs. 1.6 +/- 1 SDS; P < 0.05). In a multiple regression analysis, age (r2 = 0.19, negatively correlated), pretreatment height velocity (r2 = 0.11, negatively correlated), GH dose (r2 = 0.05, positively correlated) and presence of magnetic resonance imaging developmental abnormalities (r2 = 0.05, positively correlated) were found to significantly explain 40% of the variability in growth response. CONCLUSIONS: The detection of congenital abnormalities in the hypothalamic-pituitary area on MRI is more important than the level of maximum stimulated GH to predict the growth response to hGH treatment in prepubertal nonacquired GH-deficient children. Although the persistence of GH deficiency remains to be confirmed during follow-up by reassessment of GH secretion in isolated GH-deficient patients with normal MRI findings, further studies are needed to evaluate whether an increased hGH dose in these patients could improve long-term growth response.

Age Factors↗

PubMed2002

Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

Congenital hypothyroidism (CH) is most frequently caused by thyroid developmental abnormalities and it has recently been seen to have a familial component. The aim of this study was to investigate whether thyroid developmental abnormalities exist in first degree relatives of CH children with thyroid dysgenesis, an anomaly which, when present, is sometimes asymptomatic. Thyroid ultrasonography and function were evaluated among first degree relatives (n = 241) of 84 isolated CH children with thyroid dysgenesis. The results were compared with those of an unselected control population (n = 217). In 19 individuals (7.9% of cases) belonging to 18 families (21.4%), 21 cases of thyroid developmental abnormalities were detected, whereas only 2 subjects (0.9%) were affected in controls (P < 0.001). These 21 thyroid developmental abnormalities included thyroglossal duct cysts (n = 14), additional thyroid tissue with presence of a pyramidal lobe (n = 3), thyroid hemiagenesis (n = 3), and ectopic thyroid tissue (n = 1). All of these subjects showed normal thyroid function and belonged to nuclear families of CH children with athyreosis (n = 8), ectopic thyroid tissue (n = 9), or hemiagenesis (n = 1). A segregation analysis led to the conclusion that thyroid developmental abnormalities are compatible with an autosomal dominant mode of inheritance with a low penetrance estimated at 21% for asymptomatic thyroid developmental abnormalities and a probability of less than 7% of developing CH for a carrier of the susceptibility allele. In conclusion, these observations support the hypothesis of a common genetic component of the disorder with heterogeneous phenotypes.

Adult↗

PubMedDate not supplied

Etiology and outcome of fetal echogenic bowel. Ten years of experience.

OBJECTIVE: To assess the frequency of certain etiologies in fetal echogenic bowel and the related pregnancy outcome. STUDY DESIGN: A retrospective study including 215 cases. Ultrasound findings included bowel abnormality, malformations, growth retardation and Doppler abnormalities. Amniocentesis was performed in 196 cases to screen for abnormalities in karyotype, cystic fibrosis gene and infection. The color of amniotic fluid and a history of first-trimester bleeding were also noted. Outcome according to different etiologies was reported. RESULTS: 112 cases (57%) had a known etiology, which included chromosomal abnormality (7%), infection (4%), cystic fibrosis (1.5%), bowel abnormality (3%), bleeding or stained amniotic fluid (11%), Doppler abnormality (14%), malformation (16%) and miscellaneous (0.5%). Pregnancy was terminated in 39 cases and fetal demise complicated one third of the cases (13) of severe growth retardation. CONCLUSION: Fetal echogenic bowel should be investigated and a careful follow-up is necessary if there is associated Doppler perturbation or growth retardation.

Female↗