Search results for "rema"
showing 10 items of 911 documents
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, bio…
2010
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, …
Estimating trematode prevalence in snail hosts using a single-step duplex PCR: how badly does cercarial shedding underestimate infection rates?
2014
Background: Trematode communities often consist of different species exploiting the same host population, with two or more trematodes sometimes co-occuring in the same host. A commonly used diagnostic method to detect larval trematode infections in snails has been based on cercarial shedding, though it is often criticized as inaccurate. In the present study we compare infection prevalences determined by cercarial emission with those determined, for the first time, by molecular methods, allowing us to quantify the underestimation of single and double infections based on cercarial emission. We thus developed a duplex PCR for two host-parasite systems, to specifically differentiate between sin…
Bone mineral metabolism in the micropremie
2000
Environmental factors, nutritional supplies, hormonal status, diseases, and treatments appear to affect postnatal skeletal growth and mineralization in VLBW infants. Compared with their term counterparts, ELBW infants are at risk of postnatal growth deficiency and osteopenia at the time of hospital discharge. From recent data, DXA is becoming one of the reference techniques to evaluate mineral status, whole-body composition, and effects of dietary manipulations on weight gain composition and mineral accretion in preterm infants. Weight gain and length increases need to be evaluated carefully during the first weeks of life, in the intensive care unit and out of it, in the step down unit. Nut…
Reconstruction of palaeovegetation and sedimentation conditions in the area of ancient Lake Burtnieks, northern Latvia
2010
Palaeobotanical investigations were carried out with the aim of reconstructing the development of palaeovegetation and formation of sediments in the northeastern area of ancient Lake Burtnieks. Pollen and plant macroremain studies provide information on vegetation development in the surroundings of the lake, including Stone Age settlements of Braukšas I and Braukšas II. Results of the investigations indicate that the development of vegetation together with sedimentation conditions in the palaeolake have changed since the Younger Dryas until today. Vegetation composition varies in different parts of the ancient Lake Burtnieks area due to past changes in lake water level which reached differe…
Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants
2014
Acute bronchiolitis is the leading cause of lower respiratory t ract infection and hospitalization in children less than 1y ear of age worldwide. It is usually a mild disease, but some children may develop severe symptoms, requiring hospital admission and ventilatory support in the ICU. Infants with pre-existing risk factors (prematurity, bronchopulmonary dysplasia, congenital heart diseases and immunodeficiency) may be predisposed to a severe form of the disease. Clinical diagnosis of bronchiolitis is manly based on medical history and physical examination (rhinorrhea, cough, crackles, wheezing and signs of respiratory distress). Etiological diagnosis, with antigen or genome detection to i…
Usual Care and Informed Consent in Clinical Trials of Oxygen Management in Extremely Premature Infants
2016
Objective The adequacy of informed consent in the Surfactant, Positive Pressure, and Pulse Oximetry Randomized Trial (SUPPORT) has been questioned. SUPPORT investigators and publishing editors, heads of government study funding agencies, and many ethicists have argued that informed consent was adequate because the two oxygen saturation target ranges studied fell within a range commonly recommended in guidelines. We sought to determine whether each oxygen target as studied in SUPPORT and four similar randomized controlled trials (RCTs) was consistent with usual care. Design/Participants/Setting PubMed, EMBASE, Web of Science, and Scopus were searched for English articles back to 1990 providi…
Exposure to trihalomethanes through different water uses and birth weight, small for gestational age, and preterm delivery in Spain
2011
Background: Evidence associating exposure to water disinfection by-products with reduced birth weight and altered duration of gestation remains inconclusive. Objective: We assessed exposure to trihalomethanes (THMs) during pregnancy through different water uses and evaluated the association with birth weight, small for gestational age (SGA), low birth weight (LBW), and preterm delivery. Methods: Mother–child cohorts set up in five Spanish areas during the years 2000–2008 contributed data on water ingestion, showering, bathing, and swimming in pools. We ascertained residential THM levels during pregnancy periods through ad hoc sampling campaigns (828 measurements) and regulatory data (264 me…
Total plasma protein in very preterm babies: prognostic value and comparison with illness severity scores
2013
International audience; OBJECTIVE: We aimed to investigate the predictive value for severe adverse outcome of plasma protein measurements on day one of life in very preterm infants and to compare total plasma protein levels with the validated illness severity scores CRIB, CRIB-II, SNAP-II and SNAPPE-II, regarding their predictive ability for severe adverse outcome. METHODS: We analyzed a cohort of infants born at 24-31 weeks gestation, admitted to the tertiary intensive care unit of a university hospital over 10.5 years. The outcome measure was "severe adverse outcome" defined as death before discharge or severe neurological injury on cranial ultrasound. The adjusted odd ratio (aOR) and 95%…
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020
Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…
Distribution of maternity units and spatial access to specialised care for women delivering before 32 weeks of gestation in Europe
2010
Contains fulltext : 88841.pdf (Publisher’s version ) (Closed access) Survival and quality of life are improved for very preterm babies when delivery occurs in a maternity unit with on-site neonatal intensive care (level III unit). We investigated the impact of distance on the probability of delivering in such a unit for births before 32 weeks of gestation from 9 European regions with diverse perinatal health systems (the MOSAIC cohort). We analysed distances between women's homes, and the nearest level III in population quartiles, adjusting for maternal and pregnancy characteristics. Living farther away from a level III reduced access to specialised care everywhere; in some regions women re…