Congenital hyperinsulinism: current trends in diagnosis and therapy

Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes of hyperinsulinemic hypoglycemia may expose to high risk of brain damage. Hypoglycemias are diagnosed because of seizures, a faint, or any other neurological symptom, in the neonatal period or later, usually within the first two years of life. After the neonatal period, the patient can present the typical clinical features of a hypoglycemia: pallor, sweat and tachycardia. HI is a heterogeneous disorder with two main clinically indistinguishable histopathological lesions: diffuse and focal. Atypical lesions are under characterization. Recessive ABCC8 mutations (encoding SUR1, subunit of a potassium channel) and, more rarely, recessive KCNJ11 (encoding Kir6.2, subunit of the same potassium channel) mutations, are responsible for most severe diazoxide-unresponsive HI. Focal HI, also diazoxide-unresponsive, is due to the combination of a paternally-inherited ABCC8 or KCNJ11 mutation and a paternal isodisomy of the 11p15 region, which is specific to the islets cells within the focal lesion. Genetics and 18F-fluoro-L-DOPA positron emission tomography (PET) help to diagnose diffuse or focal forms of HI. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damage. This includes a glucose load and/or a glucagon injection, at the time of hypoglycemia, to correct it. Then a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and glucose-enriched feeding, diazoxide and octreotide. When medical and dietary therapies are ineffective, or when a focal HI is suspected, surgical treatment is required. Focal HI may be definitively cured when the partial pancreatectomy removes the whole lesion. By contrast, the long-term outcome of diffuse HI after subtotal pancreatectomy is characterized by a high risk of diabetes, but the time of its onset is hardly predictable

MR imaging of fetal cerebral anomalies

Background. Prenatal diagnosis of fetal brain anomalies relies mainly upon ultrasonography. However, even in the most experienced hands, the technique has limitations for some difficult diagnoses. MRI is an excellent imaging modality for the paediatric and adult brain. Objective: To assess the value of prenatal MRI when a cerebral anomaly was detected by US and where the prognosis depended on the identification of other anomalies undetectable by US, or where fetuses were at risk for a CNS lesion even when the US was normal. Materials and methods. Four hundred prenatal MRI examinations were performed since 1988, and confirmed by postnatal follow-up or pathological examination. Two-thirds of the examinations were performed after 25 weeks of gestation, one-third between 21 and 26 weeks. Fetal immobilisation was obtained by maternal premedication with flunitrazepam, administered orally 1 h before the examination. The examinations were performed on 1.5 T scanners using one or two surface coils. Results. Prenatal MRI allowed the diagnosis of serious unsuspected lesions such as neuronal migration disorders, ischaemic and haemorrhagic lesions and the abnormalities observed in tuberous sclerosis. It helped to characterise ventricular dilatation and anomalies of the corpus callosum and of the posterior fossa. Conclusions. MRI is a valuable complementary tool when prenatal US is incomplete, doubtful or limited. Prenatal MRI is particularly useful for the detection of ischaemic and haemorrhagic lesions, neuronal migration disorders and tuberous sclerosis lesions. Detection of these associated anomalies worsens the fetal prognosis, has medico-legal implications and modifies obstetric management. Normal prenatal MRI does not exclude an anomaly.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Application of an emittance adapter to increase photon flux density on a synchrotron radiation beam line

The application of the Chao-Raimondi emittance adapter to the SOLEIL storage ring is studied theoretically in terms of linear and nonlinear beam dynamics. This unique scheme recently proposed elsewhere using a pair of emittance adapters and a solenoid in between them allows a local conversion of an electron beam in a third generation light source to an ultralow emittance beam of the fourth generation. The study of potential benefits of the resultant synchrotron radiation is of crucial importance. Electron beam properties and magnetic fields inside the undulator solenoid are treated as inputs of the investigations. Characteristics of photon beams emitted by a round and small electron beam in an undulator are studied in detail on the basis of the near-field wave propagation method. The photon flux density gain, which is a figure of merit along with transverse coherence, is evaluated at the sample of two hard and soft x-ray beam lines existing at SOLEIL

Horizontal Emittance Reduction on a Synchrotron Radiation Light Source with a Robinson Wiggler

The performance of synchrotron light facilities are strongly influenced by the photon beam bright- ness, that can be further increased by reducing the beam emittance. A Robinson Wiggler can be installed in a non-zero dispersion straight section to reduce the horizontal beam emittance. It is composed of an array of magnets of alternated polarities, whose both magnetic field and gradient are of opposite signs. It provides a compact solution to reduce by 50% the horizontal emittance. How- ever, it increases the energy spread by 40%. The concept of the Robinson Wiggler (RW) is described here, the first experimental observation of the Robinson effect in a synchrotron light source on the transverse and longitudinal beam properties by the means of four existing undulators is presented and the impact on the photon flux density is studied

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

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Hyperinsulinisme chez l'enfant: nouveaux concepts--rôle de l'imagerie.

Hyperinsulinism is a rare disorder, affecting one in more than 50,000 births. It was initially thought to be due to a diffuse anomaly called nesidioblastosis, but interventional radiology-based studies demonstrated the existence of two separate forms, one difuse and the other focal. These invasive techniques have now been replaced by PET studies with 18F fluorodopa. Focal forms can be cured by surgical removal of the lesion, while the diffuse form can be treated medically or by subtotal resection of the pancreas. Biochemical and genetic studies show that focal and diffuse forms are due to various mutations of chromosome 11

SOLEIL Storage Ring Upgrade Performance in Presence of Lattice Imperfections

International audienceThe design for the upgrade of the SOLEIL third generation light source is progressing. At the present stage, different lattices are evaluated as possible candidates for the storage ring upgrade and an important factor for the comparison of their performances is the robustness against lattice imperfections. The strategy for this study consists in defining a set of misalignments of the lattice elements and field errors of the magnets that are expected to be attained after the commissioning, applying them to the lattice models and correcting them using response matrix based techniques. A dedicated algorithm was developed in Accelerator Toolbox in order to accomplish this procedure and compare the different lattices. In this paper the results of this study at the current state are presented, including the considered lattice imperfections, the correction method applied and the final performance of the lattices