Yurrebaso I.,Hospital Universitario Cruces |
Casado O.L.,Osatek Alta Tecnologia Sanitaria S.A. |
Barcena J.,Hospital Universitario Cruces |
Perez de Nanclares G.,Hospital Universitario Araba Txagorritxu |
Aguirre U.,A+ Network
Neuromuscular Disorders | Year: 2014
Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain.Surprisingly, we found typical neurophysiological features of HNPP (prolongation of distal motor latencies and diffuse SNCV slowing with significant slowing of motor nerve conduction velocities). Besides, the proband presented conduction block in left ulnar, left median and both peroneal nerves. MRI findings were consistent with an underlying neuropathy. Molecular studies identified a novel frameshift mutation in PMP22 confirming the diagnosis of HNPP.Our data suggest that neurophysiological studies are essential to characterize underdiagnosed HNPP patients referred for peripheral neuropathy. Our experience shows that MRI could be a complementary tool for the diagnosis of these patients. © 2013 Elsevier B.V.
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with gnas epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b
Maupetit-Mehouas S.,French Institute of Health and Medical Research |
Azzi S.,French Institute of Health and Medical Research |
Steunou V.,French Institute of Health and Medical Research |
Sakakini N.,University Hospital of Marseille Conception |
And 11 more authors.
Human Mutation | Year: 2013
Most patients with pseudohypoparathyroidism type 1b (PHP-1b) display a loss of imprinting (LOI) encompassing the GNAS locus resulting in PTH resistance. In other imprinting disorders, such as Russell-Silver or Beckwith-Wiedemann syndrome, we and others have shown that the LOI is not restricted to one imprinted locus but may affect other imprinted loci for some patients. Therefore, we hypothesized that patients with PHP-1b might present multilocus imprinting defects. We investigated, in 63 patients with PHP-1b, the methylation pattern of eight imprinted loci: GNAS, ZAC1, PEG1/MEST, ICR1, and ICR2 on chromosome 11p15, SNRPN, DLK1/GTL2 IG-DMR, and L3MBTL1. We found multilocus imprinting defects in four PHP-1b patients carrying broad LOI at the GNAS locus (1) simultaneous hypermethylation at L3MBTL1 differentially methylated region 3 (DMR3), and hypomethylation at PEG1/MEST DMR (n = 1), (2) hypermethylation at the L3MBTL1 (DMR3) (n = 1) and at the DLK1/GTL2 IG-DMR (n = 1), and (3) hypomethylation at the L3MBTL1 DMR3 (n = 1). We suggest that mechanisms underlying multilocus imprinting defects in PHP-1b differ from those of other imprinting disorders having only multilocus loss of methylation. Furthermore, our results favor the hypothesis of "epidominance", that is, the phenotype is controlled by the most severely affected imprinted locus. Among patients with PTH resistance due to broad imprinting defect at the locus, some present with loss of imprinting -including hypo or hypermethylation- at several other imprinted loci. In accordance to other multilocus imprinted disorders, the prevailing phenotype is related to the most severely affected imprinted locus. © 2013 WILEY PERIODICALS, INC.
Shaw-Smith C.,University of Exeter |
De Franco E.,University of Exeter |
Allen H.L.,University of Exeter |
Batlle M.,Institute dInvestigacions Biomediques August Pi i Sunyer |
And 16 more authors.
Diabetes | Year: 2014
The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and Gata6 are required for pancreatic development. In humans, GATA6 haploinsufficiency can cause pancreatic agenesis and heart defects. Congenital heart defects also are common in patients with GATA4 mutations and deletions, but the role of GATA4 in the developing human pancreas is unproven. We report five patients with deletions (n = 4) or mutations of the GATA4 gene who have diabetes and a variable exocrine phenotype. In four cases, diabetes presented in the neonatal period (age at diagnosis 1-7 days). A de novo GATA4 missense mutation (p.N273K) was identified in a patient with complete absence of the pancreas confirmed at postmortem. This mutation affects a highly conserved residue located in the second zinc finger domain of the GATA4 protein. In vitro studies showed reduced DNA binding and transactivational activity of the mutant protein. We show that GATA4 mutations/deletions are a cause of neonatal or childhood-onset diabetes with or without exocrine insufficiency. These results confirm a role for GATA4 in normal development of the human pancreas. © 2014 by the American Diabetes Association.
Extravascular device VWNG guide for hemodialysis. Description, indication and surgical implantation [Dispositivo guía VWNG extravascular para hemodiálisis. Descripción, indicación e implantación quirúrgica]
Ocharan-Corcuera J.,Hospital Universitario Araba Txagorritxu |
Barba-Velez A.,University of the Basque Country |
Martinez-Cercos R.,Servicio de Angiologia y Cirugia Vascular
Dialisis y Trasplante | Year: 2013
The guide WindowTM Venous Needle Guide (VWNG) is a device designed for extravascular subcutaneous vascular access provide a repeatable and reliable using the method of access only (eye or «buttonhole») for the insertion of the needle with precision in patients on hemodialysis. Of chronic use and can be cannulate several times a week. It is a device that consists of a single component of titanium and is available in eight sizes. It lists the indications, contraindications, the instructions for the appropriate use of the device as the selection of the size of the device, the surgical implantation of the device and the ten times of the implementation. © 2013 SEDYT.
Pereda A.,Hospital Universitario Araba Txagorritxu |
Garin I.,Hospital Universitario Araba Txagorritxu |
Garcia-Barcina M.,Hospital Universitario Basurto |
Gener B.,Hospital Universitario Cruces |
And 3 more authors.
Orphanet Journal of Rare Diseases | Year: 2013
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals. © 2013 Pereda et al.; licensee BioMed Central Ltd.