Early human development
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Preterm birth (gestational age < 37 completed weeks) has increased in prevalence in most countries in the past 20 years and now affects nearly 11% of all births worldwide. Because of treatment advances introduced in the 1970s-1980s, >95% of preterm infants who receive modern neonatal and pediatric care now survive into adulthood. The earliest birth cohorts to benefit from those advances are now in their 4th and 5th decades of life. ⋯ These disorders also lead to moderately (30% to 50%) increased mortality risks during early to mid-adulthood among persons born preterm compared with full-term, and even higher risks among those born at the earliest gestational ages. However, the majority of persons born preterm have low absolute risks of these outcomes and good self-reported quality of life in adulthood. Priorities for future research include the assessment of long-term health sequelae of preterm birth in racially and economically diverse populations, additional follow-up of existing cohorts into older adulthood, elucidation of outcomes by preterm birth subtype (e.g., different underlying causes) to improve risk stratification, and identification of protective factors that will support the long-term health trajectory and well-being of preterm-born adults.
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Early human development · Nov 2019
ReviewTreating neonatal spinal muscular atrophy: A 21st century success story?
Severe spinal muscular atrophy is an autosomal recessive motor neuron disorder characterized by rapidly progressive hypotonia and weakness with respiratory complications and fatal outcome. It is caused by absence or pathogenic variants in the SMN1 gene. ⋯ Several clinical investigations demonstrate that early diagnosis and intervention are essential for improved response to treatment and better prognosis. Therapeutic interventions that are effective at pre-symptomatic or early stages of the disease creates the need for awareness, expedite diagnosis and consideration of newborn screening programs.
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Bilious vomiting is synonymous with intestinal obstruction, be it functional or anatomical. In the neonate it may be due to congenital malformations of the gastrointestinal tract or develop due to acquired conditions, particularly intestinal complications associated with prematurity. This review considers the congenital malformations that may present with bilious vomiting and explores the diagnostic dilemmas faced in the preterm infant. The difficult issue of the need to exclude malrotation in term infants with bilious vomiting and the consequences of time-critical transfer is discussed.
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Tongue tie or ankyloglossia is a congenital variation characterised by a short lingual frenulum which may result in restriction of tongue movement and thus impact on function. Tongue tie division (frenotomy) in affected infants with breastfeeding problems yields objective improvements in milk production and breastfeeding characteristics, including objective scoring measures, weight gain and reductions in maternal pain. For the majority of mothers, frenotomy appears to enhance maintenance of breastfeeding. ⋯ The commonest complication is minor bleeding. Recurrence leading to redivision occurs with rates of 0.003-13% reported; this appears to be more common with posterior than anterior ties. There are limited reports indicating that prophylactic frenotomy may promote subsequent speech development; however, evidence is currently insufficient to condone this practice and further good quality research into this area is warranted.
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Early human development · Oct 2014
ReviewSerum biomarkers to evaluate the integrity of the neurovascular unit.
Biomarkers have the potential to enable the clinicians to screen infants for brain injury, monitor progression of disease, identify injured brain regions, assess efficacy of neuroprotective therapies, and offer hope to identify the timing of the injury, thus shedding light on the potential pathophysiology and the most effective therapy. Currently, clinicians do not routinely use biomarkers to care for neonates with Neonatal Encephalopathy (NE) and brain injury due to prenatal hypoxia-asphyxia. This review will cover potential biomarkers of the neurovascular unit in the setting of NE that (i) can help assess the degree or severity of encephalopathy at birth; (ii) can help monitor progression of disease process and efficacy of neuroprotective therapy; (iii) can help assess neurodevelopmental outcome. These biomarkers will be summarized in two categories: 1) Specific biomarkers targeting the neurovascular unit such as glial fibrillary acidic protein (GFAP), ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1), S100B, and neuron specific enolase (NSE) and 2) general inflammatory cytokines, such as interleukin-6 (IL-6), interleukin-1b (IL-1b), and pNF-H, among others.