Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied muscle biopsies from 36 Becker muscular dystrophy patients, and correlated dystrophin negative fibers with regenerating and degenerating myofibers. Dystrophin immunohistochemistry was used to identify dystrophin-negative and dystrophin-positive fibers. Immunohistochemical staining for fetal myosin and acid ATPase identified regenerating fibers, and calcium glioxalate and beta-spectrin staining identified necrotic fibers. All Becker biopsies contained detectable dystrophin in the majority of muscle fibers. 13 cases (36%) showed no dystrophin negative fibers, 9 cases (25%) showed a generalized, markedly decreased immunostaining pattern, and 14 cases (39%) showed a subset of dystrophin negative fibers (0.3-8% of total). Most dystrophin-negative fibers in Becker muscle were judged to be in the process of regeneration, and not in degeneration. No correlation was observed between the age of the patients and number of dystrophin negative fibers. We conclude that the absence of dystrophin and spectrin labeling in some BMD myofibers is associated with regeneration, probably due to incomplete expression of dystrophin secondary to myofibers immaturity. Our results might be explained by a developmental delayed expression of these two proteins, or by abnormal assembling in membrane's components during regeneration in dystrophy. Furthermore, our results rationalize the recently reported finding of some dystrophin-negative fibers in polymyositis.
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PMID:Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients. 806 27

Neonatal anaesthesia dosing needs to be based on physiological characteristics of the newborn, pharmacokinetic/pharmacodynamic considerations and the adverse effects profile. Disease processes and treatments in this group are distinct from adults. Absorption, distribution and clearance are altered because of immaturity of enzyme, anatomical or physiological systems resulting in extensive variability of drug disposition in neonates. This is further compounded by pharmacogenomic influences. Population and physiological-based pharmacokinetic modelling have improved understanding of maturation and subsequent dose approximation. Postmenstrual age is a reasonable measure for maturation, although postnatal age may also have an impact. The neonatal response to drugs is also altered. Although neuromuscular monitoring is robust, there remains a need for other clinically applicable tools to assess pharmacodynamics that can provide effect feedback. In neonatal anaesthesia, a specific focus of interest is tools to assess depth of anaesthesia, sedation and pain. These tools have potential to improve effectiveness and safety.
Best Pract Res Clin Anaesthesiol 2010 Sep
PMID:The pharmacology of anaesthetics in the neonate. 2103 17

Gestational diabetes mellitus (GDM)-associated fetal and neonatal adverse outcome results from the metabolic milieu projected on the fetus via the placental interface. Therefore, it can be considered to be one of the great obstetrical syndromes. Placentas from GDM pregnancies differ from nondiabetic pregnancies by an increased placental to fetal ratio and by histological findings such as villous fibrinoid necrosis, villous immaturity, chorangiosis, and ischemic changes. While early onset diabetes is more associated with marked structural changes of the placenta, GDM that rises at late gestation is associated more with placental functional changes. These placental changes, causing increased intervillous diffusion distance of immature villi and placental size to perfusion mismatch, may predispose the fetus to chronic and acute changes in gas and nutrient exchange thus turning the placenta from being a "fetus protector" to a potential source of adverse outcome. Understanding placental changes and how they affect outcome is necessary in order to develop effective screening, prevention, and management approaches.
Best Pract Res Clin Obstet Gynaecol 2015 Feb
PMID:Gestational diabetes as one of the "great obstetrical syndromes"--the maternal, placental, and fetal dialog. 2522 57

Infants born preterm face a number of challenges. Depending on the degree of prematurity, they are at a risk of developing several specific conditions and diseases related to organ immaturity and complications of long-term neonatal intensive care. Various organ systems are affected, such as the lung, resulting in bronchopulmonary dysplasia (BPD); the vascular system, resulting in pulmonary hypertension; the brain, with the risk of intracranial hemorrhage; the eye with retinopathy of prematurity; and the gut, manifesting in the severe complication of necrotizing enterocolitis. A common hallmark for all these prematurity-related conditions is that inflammation seems to be a major driving force in the pathogenesis, and that injury repair is essential for recovery and long-term health. In addition, the available treatment options are often only supportive, not curative. This chapter reviews the recent advances of stem cell therapy that have opened up new possibilities to restore organ function following prematurity.
Best Pract Res Clin Obstet Gynaecol 2016 Feb
PMID:Cell-based strategies to reconstitute vital functions in preterm infants with organ failure. 2652 6