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.

[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.

Postal survey of cuffed or uncuffed tracheal tubes used for paediatric tracheal intubation.

A postal survey of the use of cuffed or uncuffed tracheal tubes for tracheal intubation in children and infants was performed to investigate the criteria used for deciding the choice of tube and the manner of inflating the cuff in the case of use of a cuffed tracheal tube (CTT). From 200 questionnaires despatched, replies were received from 130 paediatric anaesthesiologists (response rate 65%). In paediatric practice, the CTT was routinely used by 25% of respondents for more than 80% of their patients, while more than 37% of respondents use them in less than 20% of the cases.

Fontan completion: intracardiac tunnel or extracardiac conduit?

The concept of Fontan circulation was first clinically introduced in 1971. Since that time, many technical modifications have been advocated. Among them, the concept of total cavopulmonary connection, introduced in the late 80's, has experienced widespread use over the past 10 years.

The contribution of prenatal diagnosis to the understanding of malformative intracranial cysts: state of the art.

This review evaluates the contribution of prenatal diagnosis to the understanding of intracranial cysts. We describe the outcome of 54 fetuses in which prenatal investigations indicated the presence of such lesions. The cysts were diagnosed between 20 and 30 weeks of gestation.

[Prevention of renal carcinoma: the nutri-genetic approach].

The development of renal cell carcinoma (RCC) has been associated with both genetic and environmental factors, with somatic and germline mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and with tobacco smoking, obesity, long term exposure to some nutrients, pollutants, and industrial solvents such as trichloroethylene. Intra and interfamilial variability of expression of germline mutations in the VHL gene and variable susceptibility to carcinogens in the sporadic forms strongly suggest the involvement of conditional modifier genes. In order to identify sub groups of individuals at increased risk because of susceptibility genotypes, we have collected a series of 460 patients who developed an RCC and 79 families with the von Hippel Lindau disease.

[Genetic tests: predict or curse].

Genetic testing is aimed to the goal of i) confirming the diagnosis of a genetic disease in an affected individual and ii) of determining the status of relatives and the genetic risk to the progeny. Genetic testing also allows to determine whether an at risk individual is the carrier of the disease gene prior to symptoms. Genetic tests should be carried out for the benefit of the patients only.

Perioperative blood salvage during surgical correction of craniosynostosis in infants.

Surgical correction of craniosynostosis in infants is a very haemorrhagic procedure. The aim of this study was to determine whether the perioperative use of the continuous autotransfusion system (CATS) would reduce homologous transfusion during repair of craniosynostosis. Two groups of patients were studied according to the availability of the CATS in our hospital.

[Component analysis of urinary calculi in the etiologic diagnosis of urolithiasis in the child].

The potential risk of recurrence and degradation of renal function justifies the etiological investigation of all lithiasis-associated pathologies. Therefore calculus analysis of the crystalline phases and morphological characteristics is an important factor in the etiological diagnosis of the disease. Microscopic examination and infrared spectroscopy of calculi from 727 children showed that calcium oxalate was the main component in 36.

[Towards the integration of the digital medical image folder within the computerized patient folder: PACS and image networks].

Medical Images are components of the so-called "Medical Imaging Folder". This folder is a subset of the so-called "Medical Folder", part of the "Patient Folder. The G8 promotes the concept of a "Global Information Society for Health.

[Effect of a lung contusion on the prognosis of severe head injury in the child].

Objectives: To assess the effects of a pulmonary contusion (PC) on the outcome of a severe head trauma (SHT) in children less than 15-year-old.

Study Design: Retrospective study.

Patients: The study included 30 severely head injured children with a Glasgow Coma Scale score (GCS) < or = 8, associated with a PC (PC+) diagnosed on a thoracic CT-scan and 30 severely head injured children without PC (PC-).

[Scleroderma in children: a retrospective study of 70 cases].

Background: Scleroderma is uncommon in childhood. The aim of our study was to analyze the frequency of different clinical forms, their prognostic significance, biological features, and co-morbidities and to assess the pertinence of therapeutic options.

Patients And Methods: The files of 70 children with primary scleroderma seen from 1980 to 1997 were retrospectively reviewed.