The trisomy 18 syndrome

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations

Monitoramento Agrícola a Partir de Imagens Aéreas e WebMapping .

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Arginine-enriched oral nutritional supplementation in the treatment of pressure ulcers: A literature review

Abstract Purpose Pressure ulcers are a common, potentially mortal complication to disease, care and treatment for patients of all ages with mobility impairments. In addition, pressure ulcers not always heal straightforward because of multiple intrinsic factors e.g. undernutrition and extrinsic factors e.g. inadequate nutrition that may influence the healing process. The aim of this descriptive review is to investigate the treatment effect of arginine-enriched oral nutritional supplementation in pressure ulcers. Results The included studies, seven RCTs and four CTs, were published between January 2001 and October 2015, and conducted in different settings: hospital, long-term care/care homes and home care. The duration of follow-up of the studies varied from 2 weeks to complete healing and the sample size varied from 16 to 245 patients aged from 37 to 92 years and with pressure ulcer stages II, III or IV. The wound-specific oral nutritional supplementation contained 3–9 g of arginine. The main outcome measures were complete healing, time needed for complete wound closure, reduction in wound surface area, nursing time, and the number of dressings used. Ten out of eleven studies showed a beneficial effect of the arginine-enriched oral nutritional supplementation on the healing of pressure ulcers. Conclusions This review shows that there is substantial evidence supporting the positive effect of nutritional supplementation with additional protein, arginine and micronutrients to promote pressure ulcer healing. Currently, there is only one large study (N = 200) with level 1 evidence. It may be postulated that at least one extra comparable level 1 study is needed to draw firm conclusions on the importance of key nutrients in complete pressure ulcer healing

Biomaterials in Neurodegenerative Disorders : A Promising Therapeutic Approach

Neurodegenerative disorders (i.e., Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and spinal cord injury) represent a great problem worldwide and are becoming prevalent because of the increasing average age of the population. Despite many studies having focused on their etiopathology, the exact cause of these diseases is still unknown and until now, there are only symptomatic treatments. Biomaterials have become important not only for the study of disease pathogenesis, but also for their application in regenerative medicine. The great advantages provided by biomaterials are their ability to mimic the environment of the extracellular matrix and to allow the growth of different types of cells. Biomaterials can be used as supporting material for cell proliferation to be transplanted and as vectors to deliver many active molecules for the treatments of neurodegenerative disorders. In this review, we aim to report the potentiality of biomaterials (i.e., hydrogels, nanoparticles, self-assembling peptides, nanofibers and carbon-based nanomaterials) by analyzing their use in the regeneration of neural and glial cells their role in axon outgrowth. Although further studies are needed for their use in humans, the promising results obtained by several groups leads us to suppose that biomaterials represent a potential therapeutic approach for the treatments of neurodegenerative disorders

Fighting hospital malnutrition : let\u2019s start by calibrating hospital scales!

Body weight measurement is fundamental in nutritional screening. Thus, weighing scales should be regularly calibrated. This procedure is so important that in 1990 the Council of Europe produced an ad hoc directive. Unfortunately, little is known about scales management in hospitals. We performed an inventory in the City Hospital of Trento (900 beds), which is responsible for the healthcare of 250,000 inhabitants. The analysis included flat, chair and paediatric neonatal scales. We focused attention on the date of arrival and calibration management. In the hospital, there were 211 scales: 190 flat scales, 13 chair scales and 8 paediatric neonatal scales. The mean "age" was 10.3\ub17.3 years; 22.3% were 5-10 years old and 44.1% were aged >10 years. No scale was ever calibrated. They are managed by the "Internal Logistics Unit", meaning that scales are regarded as pieces of furniture rather than as diagnostic tools. Accurate weight measurement is a key task in nutritional management. However, our results once highlight limitations in this process. It is not enough to design laws and accreditation standards for the European Community; enforcement should be also checked