Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).

[Indicadores de salud perinatal en una región española entre los años 2015 y 2020.].

Objective: The availability in the literature of data related to perinatal variables in the Spanish population is very scarce. The aim of this study was to know the evolution of perinatal health indicators according to the risk groups of prematurity and birth weight, the proportion of multiple births, caesarean section and stillbirths.

Methods: We conducted a population-based cross-sectional study of births in eleven hospitals in Castilla y León (January 2015 to June 2020).

Lack of changes in preterm delivery and stillbirths during COVID-19 lockdown in a European region.

Preliminary data in Europe have suggested a reduction in prematurity rates during the COVID-19 pandemic, implying that contingency measures could have an impact on prematurity rates. We designed a population-based prevalence proportion study to explore the potential link between national lockdown measures and a change in preterm births and stillbirths. Adjusted multivariate analyses did not show any decrease in preterm proportions during the lockdown period with respect to the whole prelockdown period or to the prelockdown comparison periods (2015-2019): 6.

Refined Multiscale Fuzzy Entropy to Analyse Post-Exercise Cardiovascular Response in Older Adults With Orthostatic Intolerance.

Orthostatic intolerance syndrome occurs when the autonomic nervous system is incapacitated and fails to respond to the demands associated with the upright position. Assessing this syndrome among the elderly population is important in order to prevent falls. However, this problem is still challenging.

Imported malaria in children in Madrid, Spain, 2007-2013.

Background: The majority of malaria cases diagnosed in Europe in the last few years have occurred in people living in non-endemic areas travelling back to their home country to visit friends and relatives (VFRs). Children account for 15-20% of imported malaria, with known higher risk of severe disease.

Material And Methods: A retrospective multicentre study was conducted in 24 hospitals in Madrid (Spain) including patients under 16 years diagnosed with malaria (2007-2013).

Lipid and glucose alterations in perinatally-acquired HIV-infected adolescents and young adults.

Background: Successful antiretroviral therapy (ART) has dramatically reduced mortality among HIV-infected children. However, there is growing concern about long-term effects associated to ART. The aim of this study was to determine the prevalence of metabolic abnormalities in a cohort of perinatally HIV-infected adolescents and young adults and to identify associated factors.

[Multicenter program for the integrated care of newborns with perinatal hypoxic-ischemic insult (ARAHIP)].

Introduction: Newborns with perinatal indicators of a potential hypoxic-ischemic event require an integrated care in order to control the aggravating factors of brain damage, and the early identification of candidates for hypothermia treatment.

Patients And Methods: The application of a prospective, populational program that organizes and systematizes medical care during the first 6 hours of life to all newborns over 35 weeks gestational age born with indicators of a perinatal hypoxic-ischemic insult. The program includes 12 hospitals (91,217 m(2)); two level i centers, five level ii centers, and five level iii hospitals.

[Filarial infestation in patients emanating from endemic area. 14 cases series presentation].

Introduction: The migration causes the emergence of new diseases in our environment. One of them is the filariosis which, due to the biologic cycle peculiarity, it's weird its appearance in pediatrics. This studio accomplishes a review of all the filariosis cases diagnosed the last years in an Unit specialized in Tropical Pediatrics Diseases.

[Caudal regression syndrome].

Introduction: The regression caudal syndrome includes a spectrum of malformations which vary from the symptomless coccygeal agenesis until thoracic vertebrae and sacrococcygeal agenesis with severe neurological deficit; it is associated sometimes with malformations in other organs and systems. We present a case of partial agenesis of sacro and coccix with neuromuscular, sphincter and orthopedist alterations.

Clinical Case: A 4-year-old patient consults because of walk alterations, with daytime and nocturnal enuresis and urinary incontinence, constipation/encopresis and rectal prolapse.