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)

Two groups of retarded children (Down's Syndrome and nonDown's Syndrome retarded children, matched on MA and CA) were compared with a group of young (mean CA = 62 months) nonretarded children (matched on MA with the retarded children) on the ability to focus selectively to one or other ear during a dichotic listening task. All groups of children were able to focus on their nondominant ear to the extent that equal numbers of digits were reported from the left and the right channels. Given the complexity of the task and the immaturity of the children, the lack of a complete reversal in ear advantage under focussed attention is not surprising. However, the equivalent behaviour of the retarded children to that of the nonretarded children clarified the importance of cognitive processing for selective attention, by indicating that simple physiological maturation did not ensure the ability to focus on relevant material or the ability to resist distraction from unattended material.
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PMID:Selective attention to dichotic input of retarded children. 621 11

The faulty origin of the left coronary artery from the pulmonary artery is with an incidence of 1:300,000 newborns a very rare heart defect. We report a case of a pregnancy with two intrauterine blood transfusions in the 30th and 32nd week of gestation because of Rh-incompatibility and fetal anaemia. Dopplersonographic and echocardiographic parameters were normal. In the 32nd week of gestation delivery was induced (birth weight 2240 g, cord pH value 7.35, Apgar-score 8/9/9). Under a therapy with respiration, blood exchange transfusion and cardiotonic drugs the newborn died in the second week. The autopsy showed a general immaturity, a haemosiderosis of spleen, liver and lungs, a marked cellular jaundice and signs of a multi-organ-failure. The sinus of the pulmonary valve was the origin of the left coronary artery. In case of a seriously impaired pumping action and after exclusion of other heart defects the Bland-White-Garland-Syndrome (BWGS) has to be considered. Although a prenatal diagnosis of BWGS is with high resolution-ultrasound possible, the early postnatal diagnosis seems to be more relevant.
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PMID:[Infantile type Bland-White-Garland syndrome as a cause of death in Rh incompatibility]. 931 67

Exogenous surfactant is a specialized biomaterial used for substitution of the lipoprotein mixture normally present in the lungs-pulmonary surfactant. Respiratory Distress Syndrome is a disease of preterm infants mainly caused by pulmonary immaturity as evidenced by a deficiency of mature lung surfactant. Pulmonary surfactant is known to stabilize small alveoli and prevent them from collapsing during expiration. However, apart from alveoli, surfactant also lines the narrow conducting airways of the tracheobronchial tree. This paper reviews the role of this surfactant in the airways and its effect on mucus rheology and mucociliary clearance. Its potential role as a therapeutic biomaterial in chronic obstructive airway diseases, namely asthma, chronic bronchitis, and respiratory manifestations of cystic fibrosis, are discussed. This paper also attempts to elucidate the exact steps in the pathogenic pathway of these diseases which could be reversed by supplementation of exogenous surfactant formulations. It is shown that there is great potential for the use of present day surfactants (which are actually formulated for use in Respiratory Disease Syndrome) as therapy in the aforementioned diseases of altered mucus viscoelasticity and mucociliary clearance. However, for improved effectiveness, specific surfactant formulations satisfying certain specific criteria should be tailor-made for the clinical condition for which they are intended. The properties required to be fulfilled by the optimal exogenous surfactant in each of the above clinical conditions are enumerated in this paper.
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PMID:Exogenous surfactant therapy and mucus rheology in chronic obstructive airway diseases. 1065 43

Sleep-disordered breathing includes disorders of breathing that affect airway patency, e.g. obstructive sleep apnoea syndrome, and also conditions that affect respiratory drive (central sleep disorders) or cause hypoventilation, either as a direct central effect or due to peripheral muscle weakness. Obstructive sleep apnoea syndrome (OSAS) is an increasingly-recognised clinical entity affecting up to 5.7% of children, which, if left untreated, is associated with adverse effects on growth and development including deleterious cognitive and behavioural outcomes. Evidence exists also that untreated OSAS impacts on cardiovascular risk. Close attention should be paid to assessment and investigation of this relatively common condition, instigating early and appropriate treatment to children with OSAS. First-line treatment in younger children is adenotonsillectomy, although other treatment options available include continuous positive airways pressure (CPAP), anti-inflammatory therapies (nasal corticosteroids and anti-leukotrienes), airway adjuncts and orthodontic appliances. Central sleep-disordered breathing may be related to immaturity of respiratory control and can be associated with prematurity as well as disorders such as Prader-Willi syndrome. In some cases, central apnoeas occur as part of a central hypoventilation disorder, which may be inherited, e.g. Congenital Central hypoventilation Syndrome, or acquired, e.g. Arnold-Chiari malformation, brain tumour, or spinal injury. The treatments of central breathing problems depend upon the underlying aetiology.
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PMID:Investigation and management of childhood sleep apnoea. 2447 Jul 27

Background: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) have emerged as a promising experimental tool for translational heart research and drug development. However, their usability as a human adult cardiomyocyte model is limited by their functional immaturity. Our aim is to analyse quantitatively those characteristics and how they differ from adult CMs. Methods and Results: We have developed a novel in silico model with all essential functional electrophysiology and calcium handling features of hiPSC-CMs. Importantly, the virtual cell recapitulates the immature intracellular ion dynamics that are characteristic for hiPSC-CMs, as quantified based our in vitro imaging data. The strong "calcium clock" is a source for a dual function of excitation-contraction coupling in hiPSC-CMs: action potential and calcium transient morphology vary substantially depending on the activation sequence of underlying ionic currents and fluxes that is altered in spontaneous vs. paced mode. Furthermore, parallel simulations with hiPSC-CM and adult cardiomyocyte models demonstrate the central differences. Results indicate that hiPSC-CMs translate poorly the disease specific phenotypes of Brugada syndrome, long QT Syndrome and catecholaminergic polymorphic ventricular tachycardia, showing less robustness and greater tendency for arrhythmic events than adult CMs. Based on a comparative sensitivity analysis, hiPSC-CMs share some features with adult CMs, but are still functionally closer to prenatal CMs than adult CMs. A database analysis of 3000 hiPSC-CM model variants suggests that hiPSC-CMs recapitulate poorly fundamental physiological properties of adult CMs. Single modifications do not appear to solve this problem, which is mostly contributed by the immaturity of intracellular calcium handling. Conclusion: Our data indicates that translation of findings from hiPSC-CMs to human disease should be made with great caution. Furthermore, we established a mathematical platform that can be used to improve the translation from hiPSC-CMs to human, and to quantitatively evaluate hiPSC-CMs development toward more general and valuable model for human cardiac diseases.
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PMID:Structural Immaturity of Human iPSC-Derived Cardiomyocytes: In Silico Investigation of Effects on Function and Disease Modeling. 2946 78