Search results for "pediatric."
showing 10 items of 4528 documents
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.
2018
Abstract Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some un…
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
2017
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. Methods Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by arra…
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis
2017
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …
Prospective cohort study of risk factors for extended-spectrum ß-lactamase-producing Escherichia coli urinary tract infections in elderly patients ad…
2017
Producción Científica
Early and rapidly progressing respiratory failure in a patient with amyotrophic lateral sclerosis: when FVC% is misleading
2018
Introduction Respiratory failure is the leading cause of death in amyotrophic lateral sclerosis (ALS) [1]. The involvement of respiratory function is a negative predictor of survival, which can be in part overcome by a prompt initiation of non-invasive mechanical ventilation (NIV). Seated forced vital capacity (FVC%) is a widely used measure to monitor respiratory function, and it is often taken as a surrogate outcome measure in clinical trials. However, it may be within a normal range in ALS patients with respiratory dysfunction [2]. Here we report on a case of an ALS patient with a rapidly evolving respiratory insufficiency, despite a rather normal FVC%. Case presentation The patient, a 6…
Case-control study on intestinal intussusception: implications for anti-rotavirus vaccination.
2018
Background: Intussusception represents the most common cause of abdominal emergency among young children but nearly 75% of cases are still considered idiopathic. Research design and methods: A case–control study was conducted among Sicilian children aged 0–59 months with a hospital admission for intussusception between 2009 and 2015 to identify factors associated with intussusception onset. Results: Overall, 125 cases and 190 controls were recruited for the study. Birth order (OR 1.49, 95%CI: 1.10, 2.02, P = 0.02) and having had gastroenteritis or having taken antibiotics during the 30 days prior to hospitalization (OR 11.55, 95%CI: 3.23, 41.23, P < 0.001; 3.09, 95%CI: 1.17, 8.12, P = 0.009…
Characteristics of neonatal herpes simplex virus infections in Germany: results of a 2-year prospective nationwide surveillance study.
2021
ObjectiveTo assess incidence and burden of neonatal herpes simplex virus (HSV) infections and to explore possible transmission routes.MethodsA 2-year prospective nationwide surveillance study performed in 2017 and 2018. All German paediatric departments (n=464 in 2017, n=441 in 2018) were contacted on a monthly basis to report potential cases of neonatal HSV infections. Infants with a postnatal age of ≤60 days and a positive HSV PCR or HSV culture from skin, mucous membrane, vesicles or conjunctival smear, blood or cerebrospinal fluid were included in the study.Results37 cases were analysed. 29 patients who exhibited no or only mild clinical symptoms were discharged home without organ damag…
Adolescent sugar-sweetened beverage consumption: An extended Health Action Process Approach.
2019
Abstract Objective Consumption of excess added sugar in the form of sugar-sweetened beverages (SSBs) contributes to a wide range of health concerns in adolescents. Identification of modifiable determinants of SSB consumption based on behavioral theory may inform development of interventions aimed at reducing SSB consumption. The aim of the current study was to test the efficacy of an extended version of the Health Action Process Approach to predict adolescent SSB consumption. Methods Using a prospective design, adolescent students (N = 450) self-reported their outcome expectancies, perceived behavioral control, intentions, habit, action, maintenance, and recovery self-efficacy, action and c…
Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in…
2016
International audience; Group A rotavirus (RVA) is the leading cause of acute gastroenteritis in young children worldwide. A prospective surveillance network has been set up to investigate the virological and clinical features of RVA infections and to detect the emergence of potentially epidemic strains in France. From 2009 to 2014, RVA-positive stool samples were collected from 4800 children <5 years old attending the paediatric emergency units of 16 large hospitals. Rotaviruses were then genotyped by RT-PCR with regard to their outer capsid proteins VP4 and VP7. Genotyping of 4708 RVA showed that G1P[8] strains (62.2%) were predominant. The incidence of G9P[8] (11.5%), G3P[8] (10.4%) and …
Cryptosporidiosis Outbreak in Immunocompetent Children from a Remote Area of French Guiana: CRYPTOSPORIDIOSIS OUTBREAK IN AMAZONIAN CHILDREN
2018
International audience; In September 2014, an increase in the number of Cryptosporidium spp. gastrointestinal tract infections was reported over a 6-month period among children living in a remote area along the Maroni River in French Guiana. Children presented gastroenteritis symptoms with Cryptosporidium-positive stools. Questionnaires were administered and stool examinations were controlled 3 months after the onset of symptoms. Data collection included demographics, food consumption, river behavior, symptoms, and outcome. Stool specimens were tested using microscopy and polymerase chain reaction. Samples from the water systems were examined for turbidity and culture for bacteria. Data fro…