WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

Purpose: To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family.

Methods: Nine members of the family agreed to be examined. All had complete clinical eye examinations.

Weight Trajectories from Birth and Bone Mineralization at 7 Years of Age.

Objective: To assess whether different trajectories of weight gain since birth influence bone mineral content (BMC) and areal bone mineral density (aBMD) at 7 years of age.

Study Design: We studied a subsample of 1889 children from the Generation XXI birth cohort who underwent whole-body dual-energy radiograph absorptiometry. Weight trajectories identified through normal mixture modeling for model-based clustering and labeled "normal weight gain," "weight gain during infancy," "weight gain during childhood," and "persistent weight gain" were used.

Higher mineralized bone volume is associated with a lower plain X-Ray vascular calcification score in hemodialysis patients.

Background And Objectives: In dialysis patients, there is an increasing evidence that altered bone metabolism is associated with cardiovascular calcifications. The main objective of this study was to analyse, in hemodialysis patients, the relationships between bone turnover, mineralization and volume, evaluated in bone biopsies, with a plain X-ray vascular calcification score.

Design, Setting, Participants And Measurements: In a cross-sectional study, bone biopsies and evaluation of vascular calcifications were performed in fifty hemodialysis patients.

Catechol-O-Methyltransferase (COMT): An Update on Its Role in Cancer, Neurological and Cardiovascular Diseases.

Catechol-O-methyltransferase (COMT) is an enzyme that catalyses the methylation of catechol substrates, classically in catecholamine metabolism, but also acting upon other substrates such as oestrogen and polyphenols. Although its classical function has been established for more than five decades, an ever expanding COMT role in other pathways and diseases has become a subject of active study in recent years. The most highlighted domains are related with COMT involvement in neuropsychiatric disorders and its role in the neurobiology of cognition, behaviour, emotions, pain processing and perception, sleep regulation, addictive behaviour and neurodegeneration.

Cardiotocographic parameters in small-for-gestational-age fetuses: How do they vary from normal at different gestational ages? A study of 11687 fetuses from 25 to 40 weeks of pregnancy.

Aim: The aim of this study was to assess how cardiotocographic (CTG) parameters differ between small-for-gestational-age (SGA) and normal fetuses at different gestational ages.

Methods: This was a retrospective cross-sectional study using the first antepartum tracing of singleton pregnancies with no malformations. Fetuses with birthweight ≥10th percentile for gestational age and other normal pregnancy outcome criteria (term birth, normal umbilical artery pH and Apgar scores, no intensive care unit admission) were compared with fetuses with birthweight <10th and <3rd percentiles for gestational age (SGA < p10 and SGA < p3, a subgroup of the latter).

Central Fetal Monitoring With and Without Computer Analysis: A Randomized Controlled Trial.

Objective: To evaluate whether intrapartum fetal monitoring with computer analysis and real-time alerts decreases the rate of newborn metabolic acidosis or obstetric intervention when compared with visual analysis.

Methods: A randomized clinical trial carried out in five hospitals in the United Kingdom evaluated women with singleton, vertex fetuses of 36 weeks of gestation or greater during labor. Continuous central fetal monitoring by computer analysis and online alerts (experimental arm) was compared with visual analysis (control arm).

Agreement and accuracy using the FIGO, ACOG and NICE cardiotocography interpretation guidelines.

Introduction: One of the limitations reported with cardiotocography is the modest interobserver agreement observed in tracing interpretation. This study compared agreement, reliability and accuracy of cardiotocography interpretation using the International Federation of Gynecology and Obstetrics, American College of Obstetrics and Gynecology and National Institute for Health and Care Excellence guidelines.

Material And Methods: A total of 151 tracings were evaluated by 27 clinicians from three centers where International Federation of Gynecology and Obstetrics, American College of Obstetrics and Gynecology and National Institute for Health and Care Excellence guidelines were routinely used.

Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective.

Objective: To describe visual outcomes after penetrating keratoplasty and deep anterior lamellar keratoplasty in patients with mucopolysaccharidoses.

Methods: This is a retrospective review of keratoplasty in consecutive patients from Brazil, England, Finland, Germany, Portugal, Sweden and the USA. All patients had corneal clouding due to mucopolysaccharidoses.

Indoor air quality and atopic sensitization in primary schools: A follow-up study.

Highlights: The SINPHONIE guidelines were successful in reducing PM and PM in schools.The schools failed to reduce the levels of other IAQ pollutants.No significant changes were observed in the prevalence of atopy.

Prostate cancer incidence and mortality in Portugal: trends, projections and regional differences.

There is a large geographical variability in prostate cancer incidence and mortality trends, mostly because of heterogeneity in control efforts across regions. We aimed to describe the time trends in prostate cancer incidence and mortality in Portugal, overall and by region, and to estimate the number of incident cases and deaths in 2020. The number of cases and incidence rates in 1998-2009 were collected from the Regional Cancer Registries.

Longitudinal evaluation of computerized cardiotocographic parameters throughout pregnancy in normal fetuses: a prospective cohort study.

Introduction: The longitudinal cardiotocographic (CTG) changes throughout pregnancy in normal fetuses have never been fully described. We aimed at characterizing the evolution of CTG parameters in healthy fetuses, from 24 to 41 weeks of gestation.

Material And Methods: A prospective cohort study was conducted in singleton fetuses without structural abnormalities on second-trimester ultrasound.

SisPorto 4.0 - computer analysis following the 2015 FIGO Guidelines for intrapartum fetal monitoring.

SisPorto 4.0 is the most recent version of a program for the computer analysis of cardiotocographic (CTG) signals and ST events, which has been adapted to the 2015 International Federation of Gynaecology and Obstetrics (FIGO) guidelines for intrapartum foetal monitoring. This paper provides a detailed description of the analysis performed by the system, including the signal-processing algorithms involved in identification of basic CTG features and the resulting real-time alerts.

Gender-specific reference charts for cardiotocographic parameters throughout normal pregnancy: a retrospective cross-sectional study of 9701 fetuses.

Objective: To establish reference values for cardiotocographic (CTG) parameters from 24 to 41 weeks of gestation in normal pregnancies.

Study Design: Retrospective cross-sectional study, using the first antepartum tracing of singleton fetuses with normal pregnancy outcomes (term birth, normal birthweight, normal umbilical artery pH and Apgar scores, no intensive care unit admission). Cases were consecutively selected from a hospital electronic patient record, and analyzed using the OmniviewSisPorto 3.

Intravitreal injection of recombinant tissue plasminogen activator in submacular hemorrhage: case series.

Purpose: To report the safety and efficacy of intravitreal recombinant tissue plasminogen activator (rtPA) with gas for managing submacular hemorrhage.

Methods: Patients with submacular hemorrhage centered in or close to the fovea underwent hemorrhage displacement with intravitreal injection of rtPA (50 μg/0.05 mL) followed by gas injection (0.

Critical evaluation of national vital statistics: the case of preterm birth trends in Portugal.

Introduction: Using vital statistics, the Portuguese National Health Plan predicts that 14% of live births will be preterm in 2016. The prediction was based on a preterm birth rise from 5.9% in 2000 to 8.

Computer analysis of foetal monitoring signals.

Five systems for computer analysis of foetal monitoring signals are currently available, incorporating the evaluation of cardiotocographic (CTG) or combined CTG with electrocardiographic ST data. All systems have been integrated with central monitoring stations, allowing the simultaneous monitoring of several tracings on the same computer screen in multiple hospital locations. Computer analysis elicits real-time visual and sound alerts for health care professionals when abnormal patterns are detected, with the aim of prompting a re-evaluation and subsequent clinical action, if considered necessary.

Neurological damage arising from intrapartum hypoxia/acidosis.

Complications occurring at any level of foetal oxygen supply will result in hypoxaemia, and this may ultimately lead to hypoxia/acidosis and neurological damage. Hypoxic-ischaemic encephalopathy (HIE) is the short-term neurological dysfunction caused by intrapartum hypoxia/acidosis, and this diagnosis requires the presence of a number of findings, including the confirmation of newborn metabolic acidosis, low Apgar scores, early imaging evidence of cerebral oedema and the appearance of clinical signs of neurological dysfunction in the first 48 h of life. Cerebral palsy (CP) consists of a heterogeneous group of nonprogressive movement and posture disorders, frequently accompanied by cognitive and sensory impairments, epilepsy, nutritional deficiencies and secondary musculoskeletal lesions.