PubMed Health⌕ Search

Biomedical subjects

F Brunelle

Publications and source records attributed to F Brunelle.

At least 19 recordsLinked to original sources
PubMed2002

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↗
PubMed2002

[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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

[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↗
PubMed2001

[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↗
PubMed2001

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↗
PubMed2001

Fetal lung volume: estimation at MR imaging-initial results.

PURPOSE: To plot normal fetal lung volume (FLV) obtained with fast spin-echo magnetic resonance (MR) images against gestational age; to investigate the correlation between lung growth and fetal presentation, sex, and ultrasonographic (US) biometric measurements; and to investigate its potential application in fetuses with thoracoabdominal malformations. MATERIALS AND METHODS: In a prospective multicenter study, 336 fetuses suspected of having central nervous system disorders underwent fast spin-echo T2-weighted lung MR imaging. Data obtained at 21-38 weeks gestation in 215 fetuses without thoracoabdominal malformations and with normal US biometric findings were selected for an FLV normative curve. FLV measurements obtained at pathologic examination with an immersion method were compared with MR FLV measurements in 11 fetuses. MR FLV values in 16 fetuses with thoracoabdominal malformations were compared with the normative curve. RESULTS: Normal FLV increased with gestational age as a power curve; the spread of values increased with age. Interobserver correlation was excellent (R(2) = 0.96). FLV measurements at MR imaging were 0.90 times those at pathologic examination. A constant ratio (0.78) between FLV on the left and right sides was observed. No significant difference in FLV was observed between fetal presentations. Normal FLV was observed in all fetuses with cystic adenomatoid malformations and in four of six with oligohydramnios. Lowest FLV values were observed in fetuses with diaphragmatic hernia. CONCLUSION: In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

Abnormalities, Multiple↗
PubMed2001

Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.

BACKGROUND AND PURPOSE: Pericallosal lipomas are rare tumors. Few reports have included their imaging characteristics. Furthermore, little is known about their evolutive course. Our purpose was to describe the imaging features of seven cases of pericallosal lipoma diagnosed in utero and followed up after birth. METHODS: We reviewed seven cases of pericallosal lipoma diagnosed by obstetric sonography (n = 7) and examined by fetal MR imaging (n = 5). Analysis of the complementary findings provided by fetal MR imaging was conducted. All findings were correlated with the postnatal imaging and clinical findings. RESULTS: Obstetric sonography easily showed the pericallosal lipoma in all seven patients. In one, however, it was misinterpreted as intracranial hemorrhage. The morphology and integrity of the underlying corpus callosum were less easy to assess by using sonography. Fetal MR imaging confirmed the fatty content and location of the lesion in all five cases. It showed the choroidal extension in two patients and the type of associated callosal anomaly in another patient better than did sonography. In two patients, the lipoma grew, as revealed by subsequent postnatal MR imaging. The results of the neurologic examinations remained normal for the five surviving patients at a mean follow-up of 3 years (1 month-9 years). CONCLUSION: Obstetric sonography is able to easily show pericallosal lipoma. Fetal MR imaging may be useful to characterize the lipomatous nature and the extension of the lipoma and the status of the corpus callosum. Long-term follow-up is necessary to understand the clinical consequences of such lesions.

Agenesis of Corpus Callosum↗
PubMed2001

[Prenatal semiology of diastematomyelia].

Diastematomyelia is a rare spinal malformation characterized by a division of the spinal cord. More often, the two hemicords are separated by a midline and sagittal osseous or fibrocartilaginous spur. In this report we describe two cases of diastematomyelia detected at routine second trimester detailed sonography and further assessed by MRI and spiral CT with surface shaded 3D-reconstructions. In addition to providing diagnosis, prenatal evaluation helps differentiate between diastematomyelia with good or bad prognosis.

Adult↗
PubMed2001

[Melorheostosis associated with arteriovenous malformation of the ear].

BACKGROUND: Melorheostosis is a rare bone dystrophy that may be associated with various vascular malformations. We report a case of arteriovenous fistulae of the ear associated with melorheostosis limited to the same side of the body. CASE REPORT: A 13 year-old boy presented a congenital port-wine nevus of the right side of the head complicated by an arteriovenous fistulae and angiomatous nodules of the ear. He was treated by laser, surgery of the nodules, arterial embolisations and sclerotherapy. In 1999, he had a benign trauma of the right hand. The X-ray showed hyperostosis resembling wax flowing down a candle reaching the carpus and some of the metacarpals and the phalanges of the right hand, typical of melorheostosis. The complete radiographic check-up showed the same characteristic appearance on the right side of the skull and the long bones of the right upper limb. Except a deformation of the right fingers, there were no others symptoms. DISCUSSION: Melorheostosis is a rare, sporadic and benign bone dysplasia that may be localized to a single limb or disseminated. The diagnosis is usually made in late childhood. Pain, stiffness, deformation of a limb are the main clinical manifestations. The skin may be erythematous and sclerotic. The radiographic appearance is characteristic with hyperostosis on one side of the bone resembling wax flowing down a candle. A vascular abnormality is present in 17 p. 100 of cases (hemangiomas, aneurysms, renal artery stenosis.). In these cases, melorheostosis is usually limited to the same side of the vascular lesion. We report the first case of arteriovenous fistulae of the ear associated with melorheostosis, on the same side of the body. The physiopathology of melorheostosis is still unknown but the association with a homolateral vascular abnormality suggests a localized defect in embryogenesis of the vascular and skeletal systems.

Arteriovenous Fistula↗