Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.

Background/aims: The short stature homeobox-containing (SHOX) gene is one of many genes that regulate longitudinal growth. The SHOX deficiency (SHOX-D) phenotype, caused by intragenic or regulatory region defects, ranges from normal stature to mesomelic skeletal dysplasia. We investigated differences in radiological anomalies between patients with SHOX-D and Turner syndrome (TS) and the effect of 2 years of growth hormone (GH) treatment on these anomalies.

A pilot study of growth hormone administration in boys with predicted adult short stature and near-ending growth.

Context: The growth-promoting effect of starting recombinant human growth hormone (rhGH) at the time of near-ending growth has not been studied in sexually mature boys who will have idiopathic short stature (ISS) as adults because it is believed that such an advanced stage of puberty would preclude favorable results.

Objectives: 1) To explore the effects of starting rhGH administration at time of near-ending growth in boys with ISS. 2) To search for predictors of response to rhGH.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

Context: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency.

Objective: Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome.

Target-driven exploratory study of imatinib mesylate in children with solid malignancies by the Innovative Therapies for Children with Cancer (ITCC) European Consortium.

Aim: To explore imatinib efficacy and pharmacokinetics in children and adolescents with refractory/relapsing solid tumours, expressing imatinib-sensitive receptor tyrosine kinases.

Methods: Exploratory study on imatinib in tumours expressing, at least, one of the receptors KIT or platelet-derived growth factor receptor (PDGFR). Standard radiological response evaluation, pharmacokinetics, gene mutations and positron emission tomography imaging were assessed.

External and internal geometry of European adults.

The primary objective of the study was to bring a deeper knowledge of the human anthropometry, investigating the external and internal body geometry of small women, mid-sized men and tall men. Sixty-four healthy European adults were recruited. External measurements were performed using classical anthropometric instruments.

Cumulative effective doses delivered by radiographs to preterm infants in a neonatal intensive care unit.

Objective: We sought to determine the number and distribution of radiographs and the cumulative effective radiograph doses (cED) received by a population of preterm infants (PIs) hospitalized in an NICU.

Study Design: We reviewed the files of all preterm infants (gestational age: <34 weeks) who were admitted to an NICU during an 18-month period and were discharged alive. A generalized additive model was used to study the relationship between cED and patient characteristics.

MRI of the olfactory bulbs and sulci in human fetuses.

Background: There is limited knowledge of the MRI pattern of the development of fetal olfactory bulbs and sulci.

Objective: To describe the MRI appearance of olfactory bulbs and sulci in normal in vivo fetuses according to gestational age.

Materials And Methods: Olfactory bulbs and sulci were retrospectively assessed on brain MRI examinations of 88 normal fetuses between 24 and 39 weeks gestational age.

[A new 2D and 3D imaging approach to musculoskeletal physiology and pathology with low-dose radiation and the standing position: the EOS system].

Close collaboration between multidisciplinary specialists (physicists, biomecanical engineers, medical radiologists and pediatric orthopedic surgeons) has led to the development of a new low-dose radiation device named EOS. EOS has three main advantages: The use of a gaseous X-ray detector, invented by Georges Charpak (Nobel Prizewinner 1992), the dose necessary to obtain a 2D image of the skeletal system has been reduced by 8 to 10 times, while that required to obtain a 3D reconstruction from CT slices has fallen by a factor of 800 to 1000. The accuracy of the 3D reconstruction obtained with EOS is as good as that obtained with CT.

Unexplained mental retardation: is brain MRI useful?

Background: Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics.

Objective: To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children.

Patients And Methods: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100).

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.

Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined entities. The classification is based on clinical, radiological and molecular findings. Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior-Clausen syndrome (DMC) and lysosomal storage disorders.

Does asymptomatic septal agenesis exist? A review of 34 cases.

Background: Primary septal agenesis (PSA) is a rare brain malformation that can be isolated or part of developmental brain abnormalities (holoprosencephaly, septo-optic dysplasia or cortical malformation). Such associated malformation can be subtle, leading to difficulties in the prenatal management of PSA. Moreover, the neurological prognosis of isolated PSA remains debatable.

Aortic dilatation in Turner syndrome: the role of MRI in early recognition.

Background: Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients.

Objective: To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation.

Materials And Methods: A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels.

Sedation in children undergoing CT scan or MRI: effect of time-course and tolerance of rectal chloral hydrate.

The aim of this paper was to describe the time-course of the sedative effect of rectal chloral hydrate (75 mg/kg) in children undergoing CT scan or MRI. Twenty children (2.13 +/- 1.

Lacrimal location of sinus histiocytosis (Rosai-Dorfman-Destombes disease).

A 7-year-old West African male patient presented with recurrence of multiple cervical lymphadenopathy. Cervical node biopsy disclosed a sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman-Destombes disease). During follow-up, the patient developed a left orbital mass corresponding to an enlarged lacrimal gland shown by CT.

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.

Congenital adrenal hypoplasia (CAH) normally occurs in the neonatal period, with patients presenting with more or less severe salt-wasting syndrome. X-linked CAH has been associated with mutations in the DAX-1 gene, and boys have also been shown to have hypogonadotrophic hypogonadism. Recently, in three unrelated boys, CAH was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and genital abnormalities, defining a new association called IMAGe.

Bilateral dysplasia epiphysealis hemimelica: report of two cases.

Dysplasia epiphysealis hemimelica is a rare congenital disorder characterised by unilateral bone overgrowth from large joints, mainly the ankle or knee. We present two cases with bilateral lesions; only two similar cases with bilateral involvement have been reported hitherto. The differential diagnosis is considered.

The intervertebral disk: a landmark for spinal diseases in children.

The aim of this paper is to describe the diagnostic value of the different radiological modifications of the intervertebral disk in children. Usual disk modifications include: disk-space narrowing; disk space enlargement; intervertebral disk calcifications; intervertebral disc prolapse; and signal modification in MRI. The gamuts (which are provided in the paper) of these different images must take into account the association with bone changes and the possibility of several disks' involvement.

Intralesional Ethibloc Injections in Bone Cysts.

Benign bone cysts (aneurysmal and unicameral) often require treatment to prevent pathological fractures. Percutaneous injections are less invasive than surgery. We describe the different percutaneous treatments available: local injection of steroids, calcitonin, or bone marrow in unicameral bone cysts, and Ethibloc(R)(Ethicon, Ethnor Laboratories, Nevilly Sur Seine, France) injection in both unicameral or aneurysmal bone cysts.