Search results for "pediatric."

Congenital muscular dystrophy: from muscle to brain.

2016

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…

West syndrome: a comprehensive review

2020

AbstractSince its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside…

Dental status, salivary flow, and sociodemographic aspects in Sheehan Syndrome patients

2018

Background Sheehan’s syndrome (SS) is one of the leading causes of hypopituitarism in developing countries. It occurs after postpartum necrosis of the pituitary gland, and it is considered a significant public health problem. This paper, apparently unpublished, aimed to perform an analysis on oral aspects in patients with SS. Material and Methods A cross-sectional study was performed with 23 women diagnosed with SS at the Division of Endocrinology and Diabetes (Walter Cantídio University Hospital, Fortaleza, Brazil). Results Data on sociodemographic, dental and salivary flow aspects were collected through a clinical approach and a panoramic radiograph request. The mean age was 64 ± 11.5 yea…

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

2017

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infu…

The Increasing Challenge of Multidrug-Resistant Gram-Negative Bacilli: Results of a 5-Year Active Surveillance Program in a Neonatal Intensive Care U…

2016

Colonization and infection by multidrug-resistant gram-negative bacilli (MDR GNB) in neonatal intensive care units (NICUs) are increasingly reported.We conducted a 5-year prospective cohort surveillance study in a tertiary NICU of the hospital "Paolo Giaccone," Palermo, Italy. Our objectives were to describe incidence and trends of MDR GNB colonization and the characteristics of the most prevalent organisms and to identify the risk factors for colonization. Demographic, clinical, and microbiological data were prospectively collected. Active surveillance cultures (ASCs) were obtained weekly. Clusters of colonization by extended spectrum β-lactamase (ESBL) producing Escherichia coli and Klebs…

Screening for Latent Tuberculosis Infection among Students of Healthcare Professions and Postgraduates of the Faculty of Medicine of the University o…

2017

Introduction and objective: Italy is a country with a low incidence of tuberculosis and in the last fifty years the annual number of TB cases decreased from 12,247 to 4,418, showing a reduction of approximately 64% in the number of cases and 71% in incidence. Despite of this encouraging trend, in the last years the epidemiology of tuberculosis changed and today it is a re-emerging infectious. The aim of this study is to measure the prevalence of positivity to tuberculosis infection (latent TB) in students, without any obvious manifestation of disease, attending degree courses of the health care professions and postgraduate medical courses of the School of Medicine of the University of Paler…

P6234Lipid goals are poorly attained in majority of patients with familial hypercholesterolemia in Latvia at the time of inclusion in the national re…

2017

Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features

2016

Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…

Changes in life expectancy for cancer patients over time since diagnosis

2019

Highlights • Research question: how cancer impacts on LE changes during patients’ entire life • LE increased in patients surviving the first years and decreasing thereafter. • Patients’ LE in the end approached but seldom reached the general population’s LE. • This method describes when cancer survivors’ excess risk of death became negligible. • Life expectancy indicator is easy to be understood and interpreted by patients.

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

2018

Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dyst…