Search results for "Anomalías"
showing 10 items of 30 documents
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
International BEAT-PCD Consensus Statement for Infection Prevention and Control for Primary Ciliary Dyskinesia in collaboration with ERN-LUNG PCD Cor…
2021
Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement. Methods A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering …
Role of cone-beam computed tomography (CBCT) in diagnosis and treatment planning of two-rooted maxillary lateral incisor with palatogingival groove. …
2020
Background: The embryonic root groove is an anatomical abnormality that starts in the cingulum and extends longitudinally down the long axis root towards the apex. This developmental anomaly is more frequently reported in maxillary lateral incisors. Gu YC in 2011 established three types of radicular grooves depending on its severity. According to this classification, type III presents a greater diagnostic and therapeutic complexity. The prevalence of palatogingival grooves in maxillary lateral incisors ranges from 1.9 to 14%. This case report provides valuable information about the diagnosis and treatment plan of palatogingival grooves with Cone-beam computed tomography (CBCT) scan. Case re…
La muntanya de L'Aixavegó: Un caso histórico de deslizamiento de grandes proporciones en la Ribera
1981
[Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies].
2017
Background Despite the potential risks of drug use during pregnancy, consumption has increased in recent decades. Objective To identify the risk of congenital anomalies (CA) associated with the use of drugs in primary care in pregnant women resident in the Valencia Region. Methods A case-control study, considering a case as a less than one year old live birth in 2009–2010, diagnosed with a CA and resident in the Valencia Region, obtained from the CA population-based registry. Controls were selected from the Metabolic Disease Registry, and the drugs prescribed and dispensed from the Integral Management of Pharmaceutical Services. Crude odds ratio (OR) was calculated with its 95% confidence i…
Oral manifestations in drug users : a review
2020
Background: In the dental environment there is not much talk about the oral manifestations resulting from the use of drugs, because in general the issue of drugs is a very difficult subject to deal with. Therefore, the objective of this work is to understand what are the most obvious manifestations in the oral cavity and as the dentist can detect them. Material and Methods: In order to carry out this bibliographical review, a scientific article search was made by consulting the PubMed database. The abstracts were read to recruit only what was consistent with the chosen topic. Results: The 23 sources of information affirmed the relationship between a bad state of general health, and more in …
Las lluvias torrenciales de septiembre de 1989 en el Mediterráneo español
1990
EL TRABAJO QUE ANALIZA LA VIOLENTA CICLOGENESIS QUE SE ABATIO SOBRE EL MEDITERRANEO ESPAÑOL EN SEPTIEMBRE DE 1989, INTENTA PONER DE MANIFIESTO LAS COMPLEJAS INTERACCIONES QUE ACTUAN PARA EL DESENCADENAMIENTO DE TALES FENOMENOS. SE INSISTE SOBRE TODO EN LA TRANSFERENCIA Y ACUMULACION DE ENERGIA TERMICA EN EL MAR COMO FACTOR DESTACADO DE ESTAS CICLOGENESIS. EL TRABAJO, TAMBIEN CON INQUIETUDES DIDACTICAS, MUESTRA COMO LA T.S.M. JUNTO CON OTROS PROCESOS GEOGRAFICOS, ATMOSFERICOS Y MEDIOAMBIENTALES, SON ELEMENTOS CRUCIALES PARA ENTENDER ESAS SEVERAS CICLOGENESIS. (A)
Effects of cardiopulmonary rehabilitation on the muscle function of children with Congenital Heart Disease : a prospective cohort study
2021
Critical medical and surgical advances have led to a shift in the care and management of children with congenital heart disease (CHD). These patients present with muscle deconditioning, which negatively influences their response to exercise, functional capacities, and quality of life. This study evaluates the influence of a cardiopulmonary rehabilitation program (CPRP) on the function of peripheral musculature of children with CHD. A single-center prospective cohort study was designed. Fifteen CHD subjects, between 12 and 16 years of age, with reduced aerobic capacity on a cardiopulmonary exercise test, were included in a three-month, 24-session CPRP. Measurements of the subjects’ handgrip …
Changes in trunk posture and muscle responses in standing during pregnancy and postpartum
2018
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194853 The aim of this study was to analyze the position of the lumbopelvic region and the muscle activation of erector spinae and biceps femoris muscles in a group of pregnant women in the third trimester. The hypothesis was that pregnancy-related biomechanical and morphological changes modify the position of the lumbopelvic region and the activation of extensor muscles. The position of the lumbar spine and pelvis in the sagittal plane, and the EMG activity of the erector spinae and biceps femoris muscles, were recorded during standing…
Valor de los estudios cromosómicos en espermatozoides mediante la técnica de hibridación in situ fluorescente (FISH) en parejas estériles
2013
Los varones estériles presentan una frecuencia elevada de anomalías citogenéticas, algunas de ellas detectables mediante el cariotipo, pero otras limitadas a las células germinales como resultado de meiosis anormales. Con las nuevas técnicas de reproducción asistida como la Inyección Intracitoplásmica de Espermatozoides (ICSI), la fecundación por espermatozoides cromosómicamente anormales puede dar lugar a fallos de implantación, abortos de repetición y a la transmisión de anomalías cromosómicas a la descendencia. La hibridación in situ fluorescente (FISH) de espermatozoides es una técnica de análisis citogenético que, mediante el marcado de los cromosomas con moléculas de ADN fluorescentes…