Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) beta-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16-17 weeks' gestation).

Brain vascular malformations in the fetus: diagnosis and prognosis.

Unlabelled: DIAGNOSIS OF BRAIN VASCULAR MALFORMATIONS IN THE FETUS: Vein of Galen aneurysms can be diagnosed in utero. Other malformations are not seen. Ultrasound makes the diagnosis by showing a "cystic" structure in the posterior fossa.

Prognostic factors for the survival of patients with papillary renal cell carcinoma: meaning of histological typing and multifocality.

Purpose: We identified prognostic factors of papillary renal cell carcinoma (PRCC) types 1 (PRCC1) and 2 (PRCC2).

Materials And Methods: Between 1985 and 1998, 759 patients underwent surgery for renal cell carcinoma, of whom 88 (11.6%), including 69 males and 19 females with a mean age of 61.

Malformative intracranial cysts: diagnosis and outcome.

Introduction: Prenatal investigations make it possible to follow up malformative intracranial cysts from their detection in utero through the postnatal period. By including those that will remain silent postnatally, precious information can be provided about their real natural history.

Diagnosis: Contrary to common belief, the vast majority of these lesions, if not associated with other fetal anomalies, are benign in nature, remain clinically silent, do not evolve or even frequently regress spontaneously.

Features of the developing brain.

Introduction: Fetal brain evaluation implies a perfect knowledge of the timing and characteristics of the developing nervous system during gestation.

Discussion: The first half of gestation corresponds to the neurulation, differentiation of primary cerebral vesicles, and neuronogenesis. The second half is characterized by the tremendous growth of the cerebral hemispheres and the settlement of gyral formation, while the ventricular system undergoes gradual narrowing.

Lumbosacral lipomas: in utero diagnosis and prognosis.

Introduction: For the purposes of prenatal counselling and prognostication, it is essential to keep in mind the key diagnostic criteria allowing recognition of the diverse forms of spinal dysraphism.

Diagnosis: It is most crucial not to confuse lipomas and myelomeningoceles, the former carrying a usually favourable prognosis, while the latter a high risk of serious neurological deficits. In our experience, these two conditions can be clearly distinguished on prenatal ultrasound and by fetal biology.

[Von Hippel-Lindau disease and obstetric anaesthesia: 3 cases report].

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant genetic disorder with retinal and nervous system haemangioblastomas, phaeochromocytomia, kidney, pancreas and endolymphatic tumors. The management of childbirth, including epidural anaesthesia is controversial. The possible presence of vascular malformations (retinal and central nervous system and spinal haemangioblastomas) increases the risk of disrupting central nervous system haemangioblastoma during delivery and when epidural anaesthesia is initiated.

Identification of brain malformations: neuropathological approach.

Introduction: The sophistication of prenatal brain imaging (US, MRI) has awakened interest in fetal neuropathology and changed the concept of brain malformations, defined until recently through descriptive terms and considered as senseless accidents of development. Usually, most CNS malformations are documented from a clinical and radiological point of view. However, only a detailed neuropathological study permits their exact phenotype to be established, which is instrumental for a precise diagnosis and cause analysis.

Cystine crystal volume determination: a useful tool in the management of cystinuric patients.

We prospectively determined cystine crystal volume (Vcys) in urine specimens from all consecutive patients with cystine urolithiasis followed at our institution over the past decade, in order to assess its predictive value as to the risk of recurrent cystine stone formation. A total of 57 patients (29 males, 28 females) with homozygous cystinuria entered in the study between January 1990 and December 2000, including 15 children aged less than 15 years and 42 patients aged 15 years or more. The clinical and radiological course was followed until December 2001, for a total of 243 patient-years of follow-up.

[Single ventricle and obstetric anaesthesia: two cases report].

Single ventricle is a relatively rare abnormality found only in 0.5-1.5% of patients with congenital heart disease.

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardiomuscular disease with an onset in the neonatal period or in infancy. In order to understand the mechanisms underlying the difference in severity between these phenotypes, we analyzed a cohort of 20 CPT2-deficient patients being affected either with the infantile (seven patients) or the adult onset form of the disease (13 patients). Using a combination of direct sequencing and denaturing gradient gel electrophoresis, 13 CPT2 mutations were identified, including five novel ones, namely: 371G>A (R124Q), 437A>C (N146T), 481C>T (R161W), 983A>G (D328G), and 1823G>C (D608H).

Pharmacokinetics of total immunoglobulin G and immunoglobulin G subclasses in patients undergoing replacement therapy for primary immunodeficiency syndromes.

Background And Objectives: Careful evaluation of the pharmacokinetic properties of a new immunoglobulin G (IgG) preparation is necessary to ensure that the product will not deviate significantly from existing products, in terms of pharmacological activity.

Materials And Methods: A prospective, open and uncontrolled trial was performed in 16 patients with primary immunodeficiency syndromes. Patients who had been under replacement therapy with licensed preparations prior to study inclusion, received 280 +/- 60 mg/kg of a solution of IgG, ready for intravenous administration, every 3 weeks for 6 months.

[Surgery for congenital heart disease in the adult: characteristics].

Surgery for congenital cardiopathy in adulthood presents at least four distinctive characteristics: rarity (less than 1% of all cardiac surgical procedures), extreme diversity of anatomo-clinical situations, the customary multivisceral disorder (pulmonary in particular) and certain specific technical differences (concerning the conduction of extracorporeal circulation and the surgical procedure itself). Because of these features, the operative indications are difficult to define in this population. They must be decided case by case, arriving at a well-tuned equilibrium between exaggerated intervention and excessive expectancy.

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria, where they are oxidized. Two CPT1 isoforms, the so-called "liver" and "muscle" CPT1s encoded by the CPT1Aand CPT1Bgenes, respectively, have been identified so far.

[Insulin-dependent neonatal and infant diabetes: genetics and physiopathology].

Insulin-dependent neonatal diabetes (ND) mellitus is uncommon with a frequency of 1/500,000 neonates in Europe. ND is characterised by hyperglycaemia, very low or undetectable insulin levels associated with intrauterine growth retardation and malformations. HLA haplotypes of juvenile diabetes or autoimmunity are not present in ND patients.

[Using BI-RADS in French].

BI-RADStrade mark is the referral lexicon in the United States for the classification of terms which are used for reporting breast imaging. The purpose of this chapter is to present and summarize the French version.

Analysis of postpartum lactational amenorrhoea in relation to breast-feeding: some methodological and practical aspects.

A large multicentre epidemiological study was carried out by WHO between 1991 and 1995 to analyse the duration of lactational amenorrhoea in relation to breast-feeding. The main results of this analysis, which used classical statistical modelling, have been already published. However, some specific aspects of the postpartum fertility amenorrhoea and breast-feeding covariates, and more specifically the observed progressive exhaustion of the breast-feeding inhibitory effect on the reproductive axis, may justify a closer look at the validity of the statistical tools.

[Colon cancer and nutritional genetics: modifier genes].

About 5% of colon cancer cases correspond to classic hereditary monogenic mendelian transmission involving at least 8 major genes of predisposition to this tumor. Genes with more moderate effects, in association with other genes can contribute to the occurrence of sporadic polygenic forms. These genes confer susceptibility to environmental factors and can play the role of aggravating or protective modifier genes in the different hereditary forms.