Alejandro Brea‐Fernández, D Dacruz, Jesús Manuel Eirís Puñal, Francisco Barros, Ãngel Carracedo,
Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because of both syndromes often share common features the associated phenotypes are usually grouped under the term “ KAT6B ‐related disorders.” However, particular signs of each syndrome have been reported and their appearance seems to be dependent on where the KAT6B variant is located. Thus, whereas truncating variants associated with SBBYSS have their ...
Tópico(s): Genomics and Chromatin Dynamics
2018 - Wiley | American Journal of Medical Genetics Part A
Jesús Manuel Eirís Puñal, Antonio Rodrı́guez-Núñez, Nicolás Francisco Fernández‐Martínez, Montserrat Fuster, Manuel Castro‐Gago, José María Martinón,
Summary: Purpose: Episodic loss of consciousness in children, whether or not associated with hypertonia or short‐duration clonic movements, presents a diagnostic challenge to the pediatrician and child neurologist. We provide some evidence of the usefulness of the head‐upright tilt test for investigating the causes of transient loss of consciousness in children, and for distinguishing between syncope, convulsive syncope, and epilepsy. Methods: We studied nine children previously diagnosed as epileptic ...
Tópico(s): Cardiac Arrhythmias and Treatments
2001 - Wiley | Epilepsia
Jesús Manuel Eirís Puñal, Manuel Fuster Siebert, Francisco Barros, Manuel Castro‐Gago,
We report three unrelated patients with congenital facial nerve palsy and chromosome 22q11 deletion, a condition hitherto poorly recognized. In the first case, facial palsy was associated with aortic coarctation, ductus arteriosus, and ostium secundum atrial septal defect. In the second case, facial palsy was associated with ostium secundum atrial septal defect, obstruction of the ureteropelvic junction, double ureteropelvic-calicial system, and distal metaphyseal widening of the forearm and leg ...
Tópico(s): Ear Surgery and Otitis Media
2001 - SAGE Publishing | Journal of Child Neurology
Inés Quintela, Montserrat Fernández Prieto, Lorena Gómez-Guerrero, Mariela Resches, Jesús Manuel Eirís Puñal, Francisco Barros, Ãngel Carracedo,
We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.
Tópico(s): Chromosomal and Genetic Variations
2015 - Wiley | Clinical Case Reports
JesúsEirís Puñal, Manuel Fuster Siebert, Francisco Barros, Augusto Viso Lorenzo, Manuel Castro‐Gago,
Tópico(s): Reconstructive Surgery and Microvascular Techniques
2001 - SAGE Publishing | Journal of Child Neurology
Jesús Manuel Eirís Puñal, M Vidal-Lijó, Francisco Barros, M J Lopez-Fernández, Elena Pintos-Martínez, Andrés Beiras-Iglesias, Manuel Castro‐Gago,
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder of peripheral myelin characterized by episodes of recurrent mononeuropathies usually involving nerves at common sites of entrapment and compression. Additional features include evidence of a diffuse demyelinating sensorimotor polyneuropathy on nerve conduction studies, focal myelin thickening (tomacula) on sural nerve biopsy, and a 1.5 Mb deletion on 17p11.2 encompassing the peripheral myelin protein ...
Tópico(s): Skin and Cellular Biology Research
2000 - Viguera Publishers | Revista de Neurología
Manuel Castro Gago, Jesús Manuel Eirís Puñal, Antonio Rodrı́guez-Núñez, Elena Pintos Martínez, T. Benlloch Marín, Francisco Barros,
Type II glycogenosis is a glycogen storage disease inherited as an autosomal recessive trait. This molecular and clinically heterogeneous condition is due to a deficiency in a lysosomal acid 1,4-alpha-glucosidase.To report the clinical, enzymatic and molecular characterization of a mulatto child, born to healthy Dominican mother and Caucasian father, affected by the juvenile phenotype form of type II glycogenosis.This 16-month-old male presented from 10 months with motor delay, limb-girdle hypotonia, ...
Tópico(s): Child Nutrition and Feeding Issues
1999 - Viguera Publishers | Revista de Neurología
Inés Quintela, Jesús Manuel Eirís Puñal, Carmen Gómez‐Lado, Laura Pérez‐Gay, D Dacruz, Raquel Cruz, Manuel Castro‐Gago, L. Míguez, Ãngel Carracedo, Francisco Barros,
Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated ...
Tópico(s): Genomics and Rare Diseases
2017 - Elsevier BV | Gene
Francisco J. González-Rodríguez, José A. Puñal-Rodríguez, Jesús Paredes-Cotoré, Alejandro Beiras,
Tópico(s): Cardiac tumors and thrombi
2009 - Elsevier BV | Cirugía Española
Janet Puñal-Riobóo, Eduardo Sánchez, Alberto Ruano‐Raviña, Leonor Varela‐Lema, D. Sánchez-Guisande, L. González-Rodríguez, Azael J. Herrero, Guillermina Barril, Francisco Maduell, Joaquín Sánchez-Covisa, A Otero, M. Auxiliadora Bajo, Rosa Sánchez,
<i>Background:</i> End-stage renal disease is a major health problem worldwide nowadays. Although conventional hemodialysis is the most widely used modality, short daily hemodialysis has been proposed as a more physiologic treatment. The objective of this article is to compare the quality of life of patients on each hemodialysis modality. <i>Methods:</i> A multicentric cross-sectional study was performed in 9 Spanish hospitals. Patients treated for at least 3 months with conventional ...
Tópico(s): Health Systems, Economic Evaluations, Quality of Life
2009 - Karger Publishers | Blood Purification
Inés Quintela, Francisco Barros, Ramón Manuel Lago‐Lestón, Manuel Castro‐Gago, Ãngel Carracedo, Jesús Manuel Eirís Puñal,
We detail here the clinical description and the family genetic study of a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features and a combination of two rare genetic variants: a maternally inherited 16p13.11‐p12.3 duplication and a de novo 12p12.1 deletion affecting SOX5 . The 16p13.11 microduplication has been implicated in several neurodevelopmental and behavioral disorders and is characterized by variable expressivity and incomplete penetrance. ...
Tópico(s): Congenital heart defects research
2015 - Wiley | American Journal of Medical Genetics Part A
Alberto Gómez‐Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo, Itxaso Rica, Jesús Barreiro, Jesús Manuel Eirís Puñal, Paloma Cabanas, Isabel Martínez-Soto, Joaquín Fernández‐Toral, Manuel Castro‐Gago, Manuel Pombo, Ãngel Carracedo, Francisco Barros, Antonio Salas,
There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitochondrion in the energetic metabolism of cardiac muscle, it was recently proposed that variation in the mitochondrial DNA (mtDNA) genome could be a risk factor in the Noonan phenotype and in hypertrophic cardiomyopathy ( ...
Tópico(s): RNA regulation and disease
2011 - Public Library of Science | PLoS ONE
A Florido-Rodriguez, Jesús Manuel Eirís Puñal, Francisco Barros, L. Laguna, A. Santana-Artiles, Irma Sebastián-García, Alfredo Santana, José C Cabrera-López,
Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes ...
Tópico(s): Inflammasome and immune disorders
2016 - Viguera Publishers | Revista de Neurología
Manuel Castro‐Gago, José María Iglesias-Meleiro, Manuel Oscar Blanco Barca, Mónica Grande-Seijo, Francisco Barros, Jesús Manuel Eirís Puñal,
We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a non-consanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2005 - SAGE Publishing | Journal of Child Neurology
Inés Quintela, Francisco Barros, Manuel Castro‐Gago, Ãngel Carracedo, Jesús Manuel Eirís Puñal,
The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and facial dysmorphism. We describe here a male patient of 9 years 9 months of age with moderate intellectual disability and dysmorphic facial features. A high resolution copy number variation analysis, performed with the Affymetrix Cytogenetics Whole-Genome 2.7 M SNP array, allowed the identification of a heterozygous 7.069 Mb microdeletion at chromosome 8q21.11- ...
Tópico(s): Chromosomal and Genetic Variations
2015 - Wiley | American Journal of Medical Genetics Part A
Javier Quintero, Josep Antoni Ramos‐Quiroga, Javier San Sebastián, Francisco Montañés Rada, Alberto Fernández‐Jaén, José Martı́nez-Raga, Marta García Giral, Montserrat Graell, María Jesús Mardomingo, César Soutullo, Jesús Manuel Eirís Puñal, Montserrat Téllez, Montserrat Pàmias, Javier Correas, Juncal Sabaté, Laura García-Orti, José A. Alda,
Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental condition in childhood (5.3% to 7.1% worldwide prevalence), with substantial overall financial burden to children/adolescents, their families, and society. The aims of this study were to describe the clinical characteristics of children and adolescents with ADHD in Spain, estimate the associated direct/indirect costs of the disorder, and assess whether the characteristics and financial costs differed between children/adolescents ...
Tópico(s): Attention Deficit Hyperactivity Disorder
2018 - BioMed Central | BMC Psychiatry
Inés Quintela, Francisco Barros, Montserrat Fernández Prieto, Rocío Martínez-Regueiro, Manuel Castro‐Gago, Ãngel Carracedo, Carmen Gómez‐Lado, Jesús Manuel Eirís Puñal,
The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy number analysis allowed us the detection of two novel and partially overlapping deletions in two unrelated families. In Family 1, a 4q13.1-q13.2 deletion ...
Tópico(s): Chromosomal and Genetic Variations
2015 - Wiley | American Journal of Medical Genetics Part A
Jesús Manuel Eirís Puñal, J. M. Iglesias Meleiro, Manuel Oscar Blanco Barca, M. Fuster Siebert, Francisco Barros, Alicia Ansede Martínez, Manuel Castro Gago,
The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions.To determine the most important clinical characteristics in a series of patients with this genetic molecular disorder.We conducted a retrospective study of 16 patients who had been diagnosed, by means of FISH or PCR, as having microdeletion 22q11.2, and the following data were evaluated in a protocolised ...
Tópico(s): Coronary Artery Anomalies
2003 - Viguera Publishers | Revista de Neurología
Inés Quintela, Francisco Barros, Laura Pérez‐Gay, D Dacruz, Manuel Castro‐Gago, Ãngel Carracedo, Jesús Manuel Eirís Puñal,
The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations.Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits. The ...
Tópico(s): Genomic variations and chromosomal abnormalities
2015 - Viguera Publishers | Revista de Neurología
Alejandro Brea‐Fernández, Federica A. Souto-Trinei, E. Iglesias, Pilar Caamaño, Berta Rodríguez Sánchez, Carmen Gómez‐Lado, Jesús Manuel Eirís Puñal, Montserrat Fernández Prieto, Francisco Barros, Roberto J. Brea, Ãngel Carracedo,
<b><i>Introduction:</i></b> The zinc finger BTB domain-containing protein ZBTB18 binds to FOXG1 to form a transcriptional repressive complex involved in neuronal differentiation. Disruption of the components of this complex results in chromosome 1q43–q44 deletion syndrome/intellectual developmental disorder 22 or in FOXG1 syndrome. <b><i>Case Presentation:</i></b> This study reports on five patients with cognitive and behavioral impairment, seizures, microcephaly, ...
Tópico(s): Chromatin Remodeling and Cancer
2023 - Karger Publishers | Cytogenetic and Genome Research
Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario López‐Rodríguez, Rebeca Losada-Del Pozo, Ignacio Mahíllo, Beatriz Moreno, Maria Rodrigo-Moreno, Dídac Casas‐Alba, Aitor Lopez-Gonzalez, Sixto García‐Miñaúr, María Ángeles Mori, Marta Pacio-Mínguez, Emi Rikeros‐Orozco, Fernando Santos‐Simarro, Jaime Cruz‐Rojo, Juan Francisco Quesada‐Espinosa, María Teresa Sánchez‐Calvín, Jaime Sánchez‐Del Pozo, Raquel Bernado Fonz, María Isidoro‐García, Irene Ruiz-Ayucar, María Isabel Álvarez‐Mora, Raquel Blanco-Lago, Begoña De Azua, Jesús Manuel Eirís Puñal, Juan José García‐Peñas, Belén Gil-Fournier, Carmen Gómez‐Lado, Nadia Irazabal, V. López-González, Irene Madrigal, Ignacio Málaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria García‐Hoyos, Pablo Prieto‐Matos, Javier López Pisón, Sergio Aguilera, Sara Álvarez, Alberto Fernández‐Jaén, Isabel Llano‐Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche‐López, María Palomares‐Bralo, Anna M. Cueto‐González, Irene Valenzuela, Antonio Federico Martínez‐Monseny, Isabel Lorda‐Sánchez, Berta Almoguera,
Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype–phenotype correlation has been reported. Methods 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a ‘phenotypical ...
Tópico(s): Genomic variations and chromosomal abnormalities
2022 - BMJ | Journal of Medical Genetics
Manuel Oscar Blanco Barca, María Gallego Blanco, Clara Ruiz Ponte, Francisco Barros, Casilda Esquete López, Jesús Manuel Eirís Puñal, Manuel Castro Gago,
Smith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity.Our aim was to report the cases of two children with SMS and carry out an approximation towards their characteristic behavioural phenotype. ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2004 - Viguera Publishers | Revista de Neurología
Xiana Rodríguez‐Osorio, Francisco Javier López‐González, Jesús Manuel Eirís Puñal, Carla Frieiro-Dantas, Carmen Gómez‐Lado, Manuel Peleteiro-Fernández, Á. Prieto-González,
Functional hemispherectomy consists in palliative epilepsy surgical procedure usually performed in patients with pharmaco-resistant epilepsy and hemispheric syndromes. It is based on the neural disconnection of the affected hemisphere with preservation of the vascular supply.To analyze long-term prognosis and safety of the hemispherectomies performed in our institution.Retrospective analysis collecting the following variables: age, gender, age of epilepsy onset, type of seizures, etiology, age of ...
Tópico(s): Neurological disorders and treatments
2018 - Viguera Publishers | Revista de Neurología
Laura Pérez‐Gay, Carmen Gómez‐Lado, Jesús Manuel Eirís Puñal, David Dacruz Álvarez, Inés Quintela, Francisco Barros, Manuel Castro Gago,
Tópico(s): Congenital heart defects research
2013 - Viguera Publishers | Revista de Neurología
J. Sanchez-Martín, J. Loricera, C. Moriano, S. Castañeda, J. Narváez, V. Aldasoro, O. Maíz, R. Melero, I. Villa-Blanco, P. Vela-Casasempere, S. Romero-Yuste, José Luis Callejas‐Rubio, E. De Miguel, E. Galíndez-Agirregoikoa, F. Sivera, C. Fernández-López, C. Galisteo, I. Ferraz-Amaro, L. Sanchez-Bilbao, M. Calderón-Goercke, José L. Hernández, M. A. González-Gay, R. Blanco,
... Hidalgo (Complejo Asistencial Universitario de Salamanca), Noemí Garrido-Puñal (H. Virgen del Rocío), Ruth López-González (Complejo Hospitalario de Zamora), José A. Román-Ivorra (H.U. y Politécnico La Fe), Sara Manrique (H. Regional de Málaga), Paz Collado (H.U. Severo Ochoa), Enrique Raya (H. San Cecilio), Valvanera Pinillos (H. San Pedro), Francisco Navarro (H. General Universitario de Elche), Alejandro Olivé- ...
Tópico(s): Cell Adhesion Molecules Research
2022 - BMJ | Annals of the Rheumatic Diseases
Jesús Manuel Eirís Puñal, P Fuentes-Pita, Carmen Gómez‐Lado, Laura Pérez Gay, Ana María López Vázquez, Rita Quintas Rey, Francisco Barros, Julio Pardo Fernández,
Introduction. Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies. Case report. An 11-year-old girl with a limb-girdle ...
Tópico(s): Cancer Treatment and Pharmacology
2020 - Viguera Publishers | Revista de Neurología
M. Camacho Halcón, Daniel Loaiza Cabello, Alejandro Muñóz, N. Garrido-Puñal, R. J. Gil Velez, José Salvador García Morillo, Francisco José García Hernández, R Mataix, M. Garrido Montes, E. Rubio Romero,
Background: Anifrolumab is a human monoclonal antibody that acts by inhibiting the type I interferon pathway and has recently been introduced into the therapeutic regimen of Systemic Lupus Erythematosus (SLE). Objectives: This is a retrospective analysis of patients diagnosed with SLE who have started treatment with Anifrolumab, with which we want to share the experience in our centre. Methods: For this purpose, we collected various clinical and analytical data from the subjects, both at the time of starting ...
Tópico(s): Systemic Lupus Erythematosus Research
2024 - BMJ | Annals of the Rheumatic Diseases
E Otero-Dominguez, Carmen Gómez‐Lado, P Fuentes-Pita, D Dacruz, Francisco Barros, Jesús Manuel Eirís Puñal,
Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A ...
Tópico(s): Metabolism and Genetic Disorders
2018 - Viguera Publishers | Revista de Neurología
Francisco Javier González Rodríguez, José Antonio Puñal, Alejandro Beiras Torrado, Joaquín Potel Lesquereaux,
Tópico(s): Endometriosis Research and Treatment
2008 - Elsevier BV | Cirugía Española
Julio Sánchez-Martín, J. Loricera, S. Castañeda, C. Moriano, J. Narváez, V. Aldasoro, O. Maíz, R. Melero, I. Villa-Blanco, P. Vela-Casasempere, S. Romero-Yuste, José Luis Callejas‐Rubio, E. De Miguel, E. Galíndez-Agirregoikoa, F. Sivera, C. Fernández-López, C. Galisteo, I. Ferraz-Amaro, L. Sanchez-Bilbao, M. Calderón-Goercke, José L. Hernández, M. A. González-Gay, R. Blanco,
... Hidalgo (Complejo Asistencial Universitario de Salamanca), Noemí Garrido-Puñal (H. Virgen del Rocío), Ruth López-González (Complejo Hospitalario de Zamora), José A. Román-Ivorra (H.U. y Politécnico La Fe), Sara Manrique (H. Regional de Málaga), Paz Collado (H.U. Severo Ochoa), Enrique Raya (H. San Cecilio), Valvanera Pinillos (H. San Pedro), Francisco Navarro (H. General Universitario de Elche), Alejandro Olivé- ...
Tópico(s): Cell Adhesion Molecules Research
2022 - BMJ | Annals of the Rheumatic Diseases