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Biomedical subjects

F Brunelle

Publications and source records attributed to F Brunelle.

At least 37 records · Page 2Linked to original sources

Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

Half of patients with the Dandy-Walker malformation (DWM) have normal intellectual development. We aimed to identify feature on MRI associated with good intellectual prognosis. We reviewed 20 patients with DWM diagnosed on MRI, mean age 14.6+/-9.9 years. We assessed their intellectual development and related it to the MRI features. We found two groups with a statistically different intellectual outcome. All 14 patients with normal intellectual development had a normal lobulation of the vermis, without supratentorial anomalies. Of the six patients with mental retardation, three had an abnormal vermis, together with dysgenesis of the corpus callosum. In the other three, there were normal vermian anatomy with associated anomalies. Normal lobulation of the vermis, in the absence of any supratentorial anomaly, appears to be a good prognostic factor in DWM. Preservation of cerebrocerebellar pathways and neonatal plasticity could explain the normal intellectual development. These findings might be useful in prenatal diagnosis.

Adolescent↗

Pre-hospital fibrinolysis followed by angioplasty or primary angioplasty in acute myocardial infarction: the long-term clinical outcome.

BACKGROUND: Randomized trials comparing primary angioplasty and in-hospital fibrinolysis in acute myocardial infarction (AMI) have shown an advantage for primary angioplasty. The long-term follow-up of pre-hospital fibrinolysis followed by elective or rescue coronary angioplasty versus primary angioplasty is not well established after acute myocardial infarction. This study sought to assess the long-term clinical outcome of patients with AMI having either received pre-hospital fibrinolysis optimized by coronary angioplasty or primary angioplasty. METHODS: We conducted a retrospective analysis involving 318 patients who either underwent primary angioplasty ( n = 157) or received pre-hospital fibrinolysis followed by an angioplasty (rescue or elective) ( n = 161) within 6 hours of the onset of chest pain. RESULTS: The groups were similar regarding their baseline characteristics except for the ages. No difference was noted for in-hospital mortality (primary PTCA group: 2.48%, combined group: 2.54%; p = ns) with no increased risk of hemorrhage. The 3-year mortality was not significantly different in the two groups (9.7% vs. 4.9%; p = 0.15). Regarding major adverse cardiac events (29.5% vs. 37.5%; p = 0.23), reintervention (22.5% vs. 23.2%; p = 0.99) or target lesion revascularization (16.1% vs. 14.7%; p = 0.68), the groups were statistically similar. CONCLUSION: These data from real-life practice emphasize the safety and similar benefits on the long-term clinical outcome of AMI patients having undergone either pre-hospital fibrinolysis followed by angioplasty or primary angioplasty.

Aged↗

A primal sketch of the cortex mean curvature: a morphogenesis based approach to study the variability of the folding patterns.

In this paper, we propose a new representation of the cortical surface that may be used to study the cortex folding process and to recover some putative stable anatomical landmarks called sulcal roots usually buried in the depth of adult brains. This representation is a primal sketch derived from a scale space computed for the mean curvature of the cortical surface. This scale-space stems from a diffusion equation geodesic to the cortical surface. The primal sketch is made up of objects defined from mean curvature minima and saddle points. The resulting sketch aims first at highlighting significant elementary cortical folds, second at representing the fold merging process during brain growth. The relevance of the framework is illustrated by the study of central sulcus sulcal roots from antenatal to adult age. Some results are proposed for ten different brains. Some preliminary results are also provided for superior temporal sulcus.

Adult↗

Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000.

BACKGROUND/PURPOSE: Permanent hyperinsulinemic hypoglycaemia in infancy (PHHI)I is a severe disease that leads to brain damage. Since 1989, pathologists have identified 2 different forms of the disease: a diffuse form (DiPHHI) and a focal form (FoPHHI). The purpose of this study was to adapt surgical techniques in case of FoPHHI to cure these infants without risk of diabetes. METHODS: All patients with PHHI underwent pancreatic venous sampling (PVS) and elective partial pancreatectomy (EPP). Molecular biology and immunohistochemistry were used to ascertain that FoPHHI was a different disease from DiPHHI. RESULTS: 45 EPPs were performed, guided by PVS and peroperative pathology. The lesions were 17 in the head, 4 in the isthmus, 6 in the body, 15 in the tail of the pancreas. Age at surgery ranged from 25 days to 4 years. Two patients already had been operated on elsewhere, and the focal lesion could be found at second operation. All 45 patients except one, were cured with euglycemia at both fasting and hyperglycaemic tests. Molecular biology has shown a specific anomaly in FoPHHI, which never has been encountered in DiPHHI. CONCLUSIONS: PHHI is not a homogeneous disease. In one third of cases, only a small amount of endocrine pancreas is abnormal, and conservative surgery is mandatory. The pre- and perioperative conditions to point out the focal pancreatic lesion are described.

Child, Preschool↗

[Prognostic value of the assessment of ischemic status at admission to the coronary care unit after pre-hospital thrombolysis].

The object of this study was to assess and analyse TIMI (Thrombolysis in Myocardial Infarction) grade and secondary major cardiac events of patients with acute myocardial infarction benefiting from pre-hospital thrombolysis according to their predefined clinical and electrical "ischaemic status" (Active, Inactive, Intermediate) on admission to the coronary care unit and at the end of thrombolysis (90th minute). This single centre study was undertaken from March 1994 to August 1999 on 161 patients treated by thrombolysis by the emergency ambulance service for acute myocardial infarction (< or = 6 hours). The mean age was 56.2 +/- 11.3 years with 8.7% of women. On admission to the coronary care unit. 30.8% were classified as Inactive and 51.6% as Active. At the end of thrombolysis, 62.3% were classified as Inactive and 27.7% as Active. Nearly 93% of TIMI 3 flow was observed in Inactive patients at the 90th minute and 76.7% of TIMI < or = 2 flow in Active patients (p < 0.0001). Global hospital mortality was 2.48% but it was zero in the Inactive group at the end of thrombolysis. With an average follow-up of 26.9 +/- 15.8 months, the incidence of major cardiac events was 34.1%, including 16.1% of revascularisation of the target lesion. In multivariate analysis, predictive factors for TIMI < or = 2 at the end of thrombolysis included persistent pain, the number of leads with ST elevation and the absence of regression of ST elevation on admission to the coronary care unit. The only predictive factor for secondary major cardiac events was persistent ST elevation at the 90th minute of thrombolysis.

Aged↗

[Bitemporal lobe dysfonction in infantile autism: positron emission tomography study].

PURPOSE: Childhood autism is a severe developmental disorder that impairs the acquisition of some of the most important skills in human life. Progress in understanding the neural basis of childhood autism requires clear and reliable data indicating specific neuroanatomical or neurophysiological abnormalities. The purpose of the present study was to research localized brain dysfunction in autistic children using functional brain imaging. PATIENTS AND METHODS: Regional cerebral blood flow (rCBF) was measured with positron emission tomography (PET) in 21 primary autistic children and 10 age-matched non autistic children. RESULTS: A statistical parametric analysis of rCBF images revealed significant bilateral temporal hypoperfusion in the associative auditory cortex (superior temporal gyrus) and in the multimodal cortex (superior temporal sulcus) in the autistic group (p<0.001). In addition, temporal hypoperfusion was detected individually in 77% of autistic children. CONCLUSION: These findings provide robust evidence of well localized functional abnormalities in autistic children located in the superior temporal lobe. Such localized abnormalities were not detected with the low resolution PET camera,. This study suggests that high resolution PET camera combined with statistical parametric mapping is useful to understand developmental disorders.

Adolescent↗

[Value of MRI in the diagnosis of unilateral optic nerve aplasia: a case report].

Optic nerve aplasia is a rare congenital anomaly consisting of complete absence of the optic disc and nerve, ganglion cells and nerve fibers, and retinal blood vessels. Optic nerve aplasia may be associated or not with anomalies of the eye ball, and may be unilateral or more rarely bilateral, the latter sometimes associated with major central nervous system anomalies. We report the MRI appearance of a case of unilateral optic nerve aplasia associated with microphthalmos. Coronal T2 weighted and 3D T1 weighted images disclosed the absence of the 3 portions of the optic nerve. This observation shows the usefulness of systematic MRI in case of microphthalmos associated with suggestive anomalies of the fundus.

Abnormalities, Multiple↗

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.

The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.

Abnormalities, Multiple↗

Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy.

BACKGROUND: Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is often resistant to medical therapy. Surgery is therefore necessary. It is due to focal adenomatous islet-cell hyperplasia treatable by partial pancreatectomy, or diffuse beta-cell hyperfunction, which requires near-total pancreatectomy. Pancreatic venous sampling (PVS) is the reference technique for the preoperative diagnosis and localization of focal forms of PHHI in the pancreas. However, hypoglycaemia is necessary to analyse the results and PVS is technically challenging. Pancreatic arterial calcium stimulation (PACS) is technically easier and does not require hypoglycaemia. AIM: To study the accuracy in the diagnosis and localization of PHHI. MATERIALS AND METHODS: PACS was performed in 12 patients and correlated with histology. RESULTS: The accuracy of PACS is poor in diffuse lesions since only two of six cases were correctly identified by this test. Five of six focal lesions were correctly recognized and located. CONCLUSIONS: PACS is less accurate than PVS in PHHI. Currently, it should be performed only when PVS fails.

Calcium↗

Prenatal thoracoabdominal tumor mimicking pulmonary sequestration: a diagnosis dilemma.

Thoracoabdominal masses are among the many congenital anomalies being detected in fetus. The differential diagnosis of such anomalies include cystic adenomatoid malformation, pulmonary sequestration, neuroblastoma, lymphangioma, congenital diaphragmatic hernia, and bronchial atresia. We report a fetal thoracoabdominal mass that proved to be an angioma that was treated by partial embolization. Complete regression was observed.

Abdominal Neoplasms↗

Functional imaging in the work-up of childhood epilepsy.

In children with medically intractable lesional epilepsy, surgery is deemed successful if the epileptogenic focus can be removed while major neurological functions are spared. Current techniques rely on invasive intracranial recordings. The new developments in functional imaging offer the possibility of localizing the epileptogenic focus noninvasively (PET/SPECT) and mapping cognitive functions (fMRI). Ictal SPECT shows hyperperfusion in the focus and has proved to have better localizing value than interictal PET or SPECT, which show focal hypometabolism or hypoperfusion. Ictal SPECT is useful for deciding on the placement of intracranial electrodes in extratemporal epilepsies, particularly in young children. Functional MRI has proved highly accurate for localizing motor and language networks, thus offering the possibilities of replacing the Wada test (language hemispheric lateralization) and studying postlesional brain plasticity. Despite the difficulties of functional imaging in children owing to the limited cooperation that can be expected, ethical constraints, and poor normative data, SPECT/PET and fMRI provide clinically useful information for presurgical work-up of childhood epilepsies.

Adolescent↗

Obstruction of Magendie's and Luschka's foramina. Cine-MRI, aetiology and pathogenesis.

BACKGROUND: Obstruction of the foramina of Magendie and Luschka represents one possible aetiology for a progressive tetra-ventricular hydrocephalus. METHOD: Our case report is a 58-year-old woman initially presenting with a pseudo-vertebrobasilar insufficiency clinical syndrome. A ventriculo-cisternostomy of the third ventricle was performed by an endoscopic procedure with a clinical and radiological success (three year follow-up). FINDINGS: Comparative studies of cerebrospinal fluid (CSF) flow measurements by cine magnetic resonance imaging (cine-MRI) showed that Magendie's and Luschka's foramina permeabilities were restored after the ventriculo-cisternostomy. INRTERPRETATION: This case shows that endoscopic ventriculo-cisternostomy of the third ventricle can provide an effective treatment for specific tetra-ventricular hydrocephalus. Cine-MRI findings open the discussion on possible aetiologies and pathophysiologies.

Brain Diseases↗

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents as two different morphological forms: a diffuse form with functional abnormality of islets throughout the pancreas and a focal form with focal islet cell adenomatous hyperplasia, which can be cured by partial pancreatectomy. Recently, we have shown that focal adenomatous hyperplasia involves the specific loss of the maternal 11p15 region and a constitutional mutation of a paternally inherited allele of the gene encoding the regulating subunit of the K(+)(ATP) channel, the sulfonylurea receptor (ABCC8 or SUR1). In the present study on a large series of 31 patients, describing both morphological features and molecular data, we report that 61% of cases (19 out of 31) carried a paternally inherited mutation not only in the ABCC8 gene as previously described but also in the second gene encoding the K(+)(ATP) channel, the inward rectifying potassium channel (KCNJ11 or KIR6.2), in 15 cases and 4 cases, respectively. Moreover our results are consistent with the presence of a duplicated paternal 11p15 allele probably because of mitotic recombination or reduplication of the paternal chromosome after somatic loss of the maternal chromosome. In agreement with the loss of the maternal chromosome, the level of expression of a maternally expressed tumor suppressor gene, H19, was greatly reduced compared to the level of expression of the paternally expressed growth promoter gene, IGF2. The expression of IGF2 was on average only moderately increased. Thus, focal forms of CHI can be considered to be a recessive somatic disease, associating an imbalance in the expression of imprinted genes in the 11p15.5 region to a somatic reduction to homozygosity of an ABCC8- or KCNJ11-recessive mutation. The former is responsible for the abnormal growth rate, as in embryonic tumors, whereas the latter leads to unregulated secretion of insulin.

ATP-Binding Cassette Transporters↗

[Pulmonary embolism in sclerotherapy for a venous malformation in a child under general anesthesia].

We report a case of pulmonary embolism associated with percutaneous sclerotherapy (absolute ethanol: 0.5 mL.kg-1) of a venous angioma, performed under general anaesthesia in a 13 year-old child. The diagnosis of pulmonary embolism, suspected on the clinical setting and symptoms, was supported by the pulmonary scintigraphy obtained 4 hours later, showing 3 minimal pulmonary defects. The outcome was rapidly favourable without sequelae under heparin administration and the pulmonary scintigraphy, performed on day 7, was normal. The role of absolute ethanol, for explaining the apparent contrast between the severity of the symptoms and the minimal obstruction noted on pulmonary scintigraphy is discussed. Also discussed are the prophylactic and curative therapeutic issues of this severe complication.

Anesthesia, General↗

[A case of hepatic pseudoaneurysm treated with percutaneous embolization in a child with multiple trauma].

Hepatic artery pseudoaneurysms are rare complications of blunt abdominal trauma in children. Diagnosis is frequently delayed and made by splanchnic angiography. Most of the indications for surgical treatment have disappeared after the development of selective catheterization and embolization. We report a case in an 8-year-old pedestrian who was struck by a car and suffered a multiple trauma with a severe blunt abdominal trauma. A severe collapse upon admission commanded immediate laparotomy that depicted a liver fracture with associated jejunal and pancreatic lesions. Recovery was progressive until the 15th postoperative day where an abrupt haemobilia occurred. A CT-scan exploration was performed and revealed a vascular mass lesion in the left lobe of the liver. The performance of a selective angiography confirmed the diagnosis of left artery pseudoaneurysm, but because of technical difficulties, no embolization could be performed by this way. A direct percutaneous puncture and embolization of the aneurysm allowed a complete exclusion of the lesion. Eventually, recovery was complete. This percutaneous technique could be a valuable alternative to classical embolization and could avoid surgical treatment that still carries a high morbidity.

Aneurysm, False↗

Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia.

OBJECTIVE: To study the potential for prenatal magnetic resonance imaging to predict pulmonary hypoplasia in congenital diaphragmatic hernia. DESIGN: Prospective observational study. SETTING: Tertiary care centre. PARTICIPANTS: Thirteen cases of congenital diaphragmatic hernia (11 left, 2 right) without associated anomalies and 74 controls. METHODS: Measurements by magnetic resonance imaging of fetal lung volume were achieved. In the control fetuses, a regression analysis was performed to associate fetal lung volume with gestational age. This yielded a formula allowing calculation of the expected fetal lung volume as a function of gestational age. In the cases with congenital diaphragmatic hernia, the observed/expected fetal lung volume ratio was compared with perinatal outcome. MAIN OUTCOME MEASURES: Neonatal mortality and pulmonary hypoplasia, which was defined as lung/body weight ratios less than 0.012. RESULTS: The expected fetal lung volume was derived from the following formula: Fetal lung volume (mL) = exp (1.24722 + 0.08939 x gestational age in weeks). The observed/expected fetal lung volume ratio was significantly lower in congenital diaphragmatic hernia (median: 0.31, range: 0.06-0.63), than in controls (median: 0.99, range: 0.42-1.94). This ratio was significantly less in the infants with congenital diaphragmatic hernia who died (median: 0.26, range: 0.06-0.63) compared with those who survived (median: 0.46, range: 0.35-0.56). The observed: expected fetal lung volume ratio was significantly correlated with the post mortem lung: body weight ratio. CONCLUSION: In isolated congenital diaphragmatic hernia, fetal lung volume measurement by magnetic resonance imaging is a potential predictor of pulmonary hypoplasia and postnatal outcome. Further studies are required to establish the clinical value of magnetic resonance imaging for the prenatal assessment of fetal lungs.

Case-Control Studies↗