Journals
2015 EN
Juan Clinton Llerena · Ana Carolina Esposito · Anneliese Lopes Barth
+3 more
Pompe disease (PD), a glycogen storage inborn error of metabolism (type II), is caused by the defi ciency of acid α-glucosidase (GAA); it can manifest itself in two forms: infantile onset (IPD) and late-onset (LOPD). Clinical presentation of this disorder is variable, depending on age at onset, level of organ involvement, progression rate, and genotype. PD is classifi ed as a glycogenosis; and, since individuals with this disorder excrete oligosaccharides in the urine, can be considered to be an oligosaccharidosis as well. Urinary tetraglucoside (Glc4), considered to be a biomarker of the disease, could be an auxiliary tool in screening for PD in suspected cases. Urine samples from 24 known patients with IPD (n = 15) and LOPD (n = 9), and normal controls (n = 215) were submitted to thin layer chromatography (TLC) analysis and high performance liquid chromatography (HPLC) quantifi Identifi cation and Quantifi cation of the Biomarker Glucose Tetrasaccharide Glc4 by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients
Journals
2015 EN
Michele Sacchini · Elena Procopio · Elisabetta Pasquini
+6 more
Infantile-onset Pompe disease (IOPD) presents with hypotonia, muscle weakness, motor delay, cardiomyopathy, feeding problems, and respiratory insuffi ciency. An early diagnosis is important to start enzyme replacement therapy (ERT) early.1 Alpha-glucosidase (GAA) enzyme assay on dried blood spots (DBS) allows a diagnosis of Pompe disease (PD) more simple and fast. GAA assay on DBS is reliable, non-invasive, sensitive, and specifi c. It is a quick and cheap test, and requires only a very small quantity of blood to be collected, which allows for a non-invasive test in a newborn who presents a clinical suspect of PD. In the last 6 years, we identifi ed 9 children affected by IOPD by GAA assay on DBS in tandem-mass spectrometry (MS/MS): 8 of them presented classic IOPD and 1 presented non-classic IOPD. At diagnosis, all patients showed cardiomyopathy. Five patients diagnosed in the fi rst month of life (range 2–20 days; mean 10.2 days; median 9 days) showed cardiomyopathy: two of them presented respiratory distress. Four patients diagnoses in the infantile age (range 2–15 months; mean 8 months; median 6.5 months) presented hypertrophic cardiomyopathy and hypotonia. The GAA activity on DBS was near absent in all the patients, ranging from 0 to 0.2 μmol/L/h (n.v. 2.31–27.4). The GAA activity in lymphocytes was confi rmed to be low in all the patients (range 0–0.8 nmol/mg/h, n.v. 11–32). Molecular analysis of the GAA gene confi rmed the diagnosis of Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease
Journals
2015 EN
Guja Astrea · Silvia Perazza · Silvia Frosini
+8 more
In classic infantile-onset Pompe disease (IOPD), symptoms start early in life, and there is a fatal outcome if the disease remains untreated.1 Enzyme replacement therapy (ERT) with recombinant human GAA remains the single treatment favouring a prolonged life expectancy.2–4 To our knowledge, there have been no studies investigating the role of an early and intensive global rehabilitation programme in IPOD infants treated with ERT. We present an 18-month neurorehabilitation follow-up in a child.
Journals
2015 EN
Stina B. Jonasson · Susann Ullén · Susanne Iwarsson
+2 more
Fear of falling can be conceptualized in different ways, e.g., as concerns about falling or low fall-related self-efficacy. It is common in people with Parkinson's disease (PD), and there is growing knowledge about its contributing factors. However, previous multivariate studies have mainly focused on fear of falling in relation to PD-related disabilities, and less is known about the associations between fear of falling and personal and environmental factors.
Journals
2015 EN
Diane Stephenson · Joshua Shulman · Klaus Romero
+22 more
Parkinson's disease is a complex heterogeneous disorder with urgent need for disease-modifying therapies. Progress in successful therapeutic approaches for PD will require an unprecedented level of collaboration. At a workshop hosted by Parkinson's UK and co-organized by Critical Path Institute's (C-Path) Coalition Against Major Diseases (CAMD) Consortiums, investigators from industry, academia, government and regulatory agencies agreed on the need for sharing of data to enable future success. Government agencies included EMA, FDA, NINDS/NIH and IMI (Innovative Medicines Initiative). Emerging discoveries in new biomarkers and genetic endophenotypes are contributing to our understanding of the underlying pathophysiology of PD. In parallel there is growing recognition that early intervention will be key for successful treatments aimed at disease modification. At present, there is a lack of a comprehensive understanding of disease progression and the many factors that contribute to disease progression heterogeneity. Novel therapeutic targets and trial designs that incorporate existing and new biomarkers to evaluate drug effects independently and in combination are required. The integration of robust clinical data sets is viewed as a powerful approach to hasten medical discovery and therapies, as is being realized across diverse disease conditions employing big data analytics for healthcare. The application of lessons learned from parallel efforts is critical to identify barriers and enable a viable path forward. A roadmap is presented for a regulatory, academic, industry and advocacy driven integrated initiative that aims to facilitate and streamline new drug trials and registrations in Parkinson's disease.
Journals
2015 EN
Rita Machado · Marta Ferreira · Marta Conde
+4 more
. The aim of this study was to characterize the infection by respiratory syncytial virus (RSV), identify risk factors,
complications and compare treatment strategies in children admitted to two Portuguese hospitals. It was a retrospective study
performed between January 2005 and December 2006. Demographic and socioeconomic data, risk factors, treatment, compli-
cations and medical follow-up were analyzed. A total of 328 children were studied (135 from Hospital Dona Estefˆania and
193 from Hospital Fernando Fonseca), about half (52.7%) being male, with a mean age of 5 months. 41% of the patients
were from a poor socioeconomic context, 55.8% had older siblings, 32.2% had smoking parents and 11.3% had reactive airway
disease. Complications occurred in 76.1% of the patients, namely, hypoxemia (63.5%), secondary bacterial infection (26.5%),
atelectasis (11.5%), respiratory failure (10%) and apnea (2.4%). Most of the patients (92.3%) were treated with bronchodilators,
69% had oxygen supplementation, 45% were on antibiotics and 31% were treated with systemic corticosteroids. Ten percent
needed mechanical ventilation. Twenty-seven (8.2%) children developed reactive airway disease. Having older siblings (63.1%
vs. 49.3% P = 0.05) and being newborn (32.7% vs. 16.5% P = 0.006) resulted as risk factors for complications, while the
risk factors identied for bacterial infection were having older siblings (71.4% vs. 55.7%; P = 0.013) and being from a poor
socioeconomic context (64.7% vs. 47.6%; P = 0.017). The treatment strategies differed in the two hospitals (Hospital Fernando
Fonseca vs. Hospital Dona Estefˆania) regarding the use of systemic corticosteroids (1.6% vs. 73.3%, P = 0.000) and antibiotics
(39.4% vs. 52.6%; P = 0.011). RSV infections can result in serious complications. According to the current knowledge, most of
the therapeutic measures carried out in this study were probably unnecessary. It is important to establish clear national guidelines
for the treatment of RSV infection
Thieme Medical Publishers (Germany)
Journals
2015 EN
Laiene OlabarrietaLanda · Diego Rivera · Alejandra Morlett Paredes
+16 more
To generate normative data on the Boston Naming Test (BNT) across 10 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate.
Journals
2015 EN
Juan Carlos ArangoLasprilla · Diego Rivera · M. Longoni
+16 more
To generate normative data on the Modified Card Sorting Test (M-WCST) across 11 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate.
Journals
2015 EN
Juan Carlos ArangoLasprilla · Diego Rivera · M.T. Garza
+16 more
To generate normative data on the Hopkins Verbal Learning Test- Revised (HVLT-R) across 11 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate.
Journals
2015 EN
Maria Cassar · Sandra Distefano · Victor Grech
Purpose . Nurse staffing levels in neonatal paediatric intensive care units (NPICU) are often inadequate. Malta is a small Island in the centre of the Mediterranean (total population around 400,000) with a birth rate of just under 4000/annum, with one NPICU. This study analysed nurse staffing levels for a 1 year period in order to ascertain whether said levels are adequate or not. Methods . Daily ward occupancies were classified by level of dependency, and ideal nursing requirements were estimated using internationally approved standards, on a daily basis, for the period 12 month period from 01/04/2008 to 31/03/2009. These were compared with the actual daily morning nursing levels to estimate deficit/s. Results . There were a total of 373 admissions to the unit resulting in a total of 5464 patient days (daily census at 0700 hrs) and 1471 free bed days (occupancy 78.8%). Occupancy varied between 8 and 23 patients (mean 15). Staffing levels ranged between 7 and 17 nurses (mean 11). The overall mean deficit was of 3.3 nurses, but this ranged from a maximum of 11 to a rare surplus of 7 nurses. Conclusions . This study only focused on a daily morning snapshot where the nursing staff is at its peak number - the nocturnal deficit is naturally worse. Furthermore, experience levels vary due to short rotations through the unit of inexperienced midwifery staff. Moreover, there are no staff designated as responsible for further education and training, extra staff for unpredictable high dependency situations, to compensate for leave, sickness, maternity leave, study leave, staff training and attendance at meetings. Clearly, the Maltese NPICU is overall understaffed.
Thieme Medical Publishers (Germany)