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.

A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

Growth hormone is used to increase height in short children who are not deficient in growth hormone, but its efficacy varies largely across individuals. The genetic factors responsible for this variation are entirely unknown. In two cohorts of short children treated with growth hormone, we found that an isoform of the growth hormone receptor gene that lacks exon 3 (d3-GHR) was associated with 1.

Interest of transjugular liver biopsy in adult patients with haemophilia or other congenital bleeding disorders infected with hepatitis C virus.

Liver histology is important for prognosis and treatment strategy in patients with hepatitis C. We report a 10-year experience of transjugular liver biopsy (TJLB) in patients with haemophilia and other congenital bleeding disorders (CBD) in terms of safety, efficiency and therapeutic consequences. TJLB was proposed to patients who were regularly followed for CBD, and were hepatitis C virus (HCV) positive by polymerase chain reaction.

Conservative treatment of placenta percreta: a safe alternative.

Placenta percreta was diagnosed antenatally in two patients in the same university medical school and conservative treatment was planned. Both uterine arteries were embolized. In one patient, embolization preceded cesarean section and in the other, embolization was done immediately after operation.

Interleukin-8 mRNA in vaginal secretions: a prenatal marker of congenital infection in case of preterm labor with intact membranes.

Objective: To study whether interleukin-8 (IL-8) mRNA in vaginal secretions is associated with congenital infection and preterm delivery in the case of preterm labor with intact membranes.

Methods: This prospective clinical study in a tertiary referral center included 280 patients who gave birth to 360 infants from 1997 through 1999. IL-8 mRNA in vaginal secretions was determined with reverse transcriptase polymerase chain reaction.

Tenofovir-related Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome: the role of lopinavir-ritonavir-didanosine.

Tenofovir-related tubular damage, like all other recently reported cases, occurred in patients receiving the protease inhibitor (PI) ritonavir, often with lopinavir. Increased plasma concentrations of didanosine were also observed after the addition of tenofovir. It was suspected that tenofovir with PIs interacted with renal organic anion transporters, leading to nephrotoxic tubular concentrations of tenofovir and systemic accumulation of didanosine.

Monoamniotic twin pregnancies: antenatal management and perinatal results of 19 consecutive cases.

Objective: To describe the obstetric management and perinatal outcome of antenatally diagnosed monoamniotic twin pregnancies (MATP) in a tertiary level maternity unit.

Setting: Port-Royal Maternity Hospital, Paris, France.

Population: MATP that progressed beyond 22 weeks seen from 1993 to 2001.

Coronavirus 229E-related pneumonia in immunocompromised patients.

Coronaviruses strains 229E and OC43 have been associated with various respiratory illnesses ranging from the self-resolving common cold to severe pneumonia. Although chronic underlying conditions are major determinants of severe respiratory virus infections, few data about coronavirus-related pneumonia in immunocompromised patients are available. Here we report 2 well-documented cases of pneumonia related to coronavirus 229E, each with a different clinical presentation.

Bacterial vaginosis: prevalence and predictive value for premature delivery and neonatal infection in women with preterm labour and intact membranes.

Objectives: Assess the predictive values of bacterial vaginosis (BV) for preterm delivery (PD) and neonatal infection and compare them with standard markers of infection among women with preterm labour (PL).

Study Design: Prospective blinded study in a tertiary referral centre in Paris. Women hospitalised for PL with intact membranes at a term between 24 and 34 weeks were included.

Interferon-ribavirin in association with stavudine has no impact on plasma human immunodeficiency virus (HIV) type 1 level in patients coinfected with HIV and hepatitis C virus: a CORIST-ANRS HC1 trial.

A randomized, open-label trial was performed to study virological and intracellular interactions between stavudine and ribavirin in 30 patients coinfected with human immunodeficiency virus (HIV) and hepatitis C virus (HCV). Patients were randomized to receive either interferon and ribavirin or no treatment for HCV infection for 3 months. Intracellular peripheral blood mononuclear cells' stavudine-triphosphate (TP) concentrations were assessed.

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.

Objective: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins. The objective of this work was to describe precisely neurological findings in patients with type Ia CDG (CDG-Ia) and to compare our results with the literature.

Study Design: We retrospectively reviewed neurological and neurodevelopmental, neuroimaging, and genetic features in ten patients with CDG-Ia who mainly presented with neurological abnormalities during childhood and therefore were referred to a neuropediatrician or a neurogeneticist.

Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome.

In order to validate the ability of ictal single photon emission computed tomography (SPECT) to localize the epileptogenic zone (EZ) in children, we compared in 20 patients aged from 10 months to 17 years (mean 6.5 years) the topography of the area of increased ictal perfusion (IPA), determined on the basis of ictal minus interictal scan values, with that of the EZ determined by intracranial EEG recordings and assessed its relationship with the postsurgical outcome. Eighteen patients had symptomatic epilepsy and 10 had extratemporal epilepsy.

Fertility after conservative treatment of placenta accreta.

Objective: To report a pregnancy with vaginal delivery after a preceding pregnancy complicated by placenta accreta that was managed conservatively.

Design: Case report.

Setting: University medical center.

Rotationplasty after failure of a knee prosthesis for a malignant tumour of the distal femur.

Failure of massive knee endoprostheses implanted for malignant tumours of the distal femur in children presents a difficult problem. We present the results of rotationplasty undertaken under these circumstances in four boys. They had been treated initially at a mean age of 9.

Natural history of hips with borderline acetabular index and acetabular dysplasia in infants.

Management of clinically stable hips with an increased age-related acetabular index (AI) remains controversial. The authors' purpose was to document the natural history of such hips. Sixty-eight clinically stable hips with an increased age-related AI were followed up for a mean of 9.

Clubfoot posteromedial release: advantages of tibialis anterior tendon lengthening.

The aim of this study is to evaluate the eventual advantages of tibialis anterior (TA) tendon lengthening during clubfoot posteromedial release. A continuous series of 60 idiopathic clubfeet has been retrospectively studied. Tibialis anterior lengthening (TAL) began to be performed in 1984.

Mutations in the human leptin and leptin receptor genes as models of serum leptin receptor regulation.

A part of serum Ob leptin, an adipocyte-secreted peptide, is bound to a soluble Ob receptor (sObR). Immunoreactive sObR was measured in 125 lean or obese control subjects (group 1), 18 individuals with a mutation in the leptin gene impairing leptin secretion (group 2), and 10 individuals with a mutation in the ObR gene, leading to production of a truncated ObR not anchored to cell membranes (group 3). In group 1, sObR levels were negatively correlated with age and BMI in children and with BMI in adults.

Prophylactic antiepileptic treatment in Sturge-Weber disease.

Purpose: In Sturge-Weber disease, motor and cognitive defects are supposed to result mostly from severe epilepsy. They might, therefore be partly prevented by prophylactic antiepileptic drug treatment. This condition constitutes a possible model for the study of prophylactic drug treatment in severe epilepsy.

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.

Hyperrotatory paradoxic kyphosis.

Study Design: A retrospective radiographic evaluation of 32 patients with hyperrotatory scoliosis accompanied by paradoxic hyperkyphosis, who were treated with posterior multilevel hook instrumentation.

Objectives: To give a three-dimensional analysis of this particular deformity and to evaluate the coronal, sagittal, and horizontal plane corrections in these specific curves.

Summary Of Background Data: Lordoscoliosis with a severe rotational component produces paradoxic kyphosis in the sagittal plane.

Potential benefit of Bayesian forecasting for therapeutic drug monitoring in neonates.

Therapeutic drug monitoring in neonate has been hampered by invasiveness of blood samplings raising ethical problems. A methodologic approach has been developped in adults and in children that is still unsufficiently developped in neonates, the Bayesian forecasting of drug plasma concentration. This method is particularly attractive in neonates using a few blood samples from an individual patient and more informations from a prior patient sample representative of the population the individual patient belongs to.

Interferon-beta treatment in patients with childhood-onset multiple sclerosis.

We present a report of the use of interferon-beta before 18 years of age in 16 patients with childhood-onset multiple sclerosis. This study demonstrated that the treatment is safe and well tolerated.

Heterogeneity of fetal growth in type 1 diabetic pregnancy.

Objective: To investigate the frequency of macrosomia in an homogeneous cohort of type 1 diabetic mothers and to analyze the influence of maternal factors and glycemic control on the incidence of fetal macrosomia.

Material And Methods: Fifty-five consecutive type 1 diabetic first-pregnancies were prospectively studied. Macrosomia was defined by a ponderal index above the 90(th) percentile.