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)

The newborn infant, particularly when premature, has a haemostatic mechanism which may not be entirely capable of withstanding the onslaughts of trauma, infection, asphyxia or other complications of the neonatal period. He is at risk of local or diffuse haemorrhage, which may at times be serious or even life-threatening. The cause of haemorrhage during the newborn period can generally be ascertained by a careful history and brief physical examination directed toward recognition of any predisposing factors or underlying diseases. Screening laboratory tests can usually be correctly interpreted as long as certain laboratory artifacts and physiological peculiarities of the neonatal coagulation mechanism are kept in mind. Diagnosis of and therapy for vitamin K deficiency and haemophilia in the healthy-appearing neonate is generally carried out with little difficulty. The seriously ill neonate with bacterial sepsis, respiratory distress syndrome, or extreme immaturity presents greater problems, for laboratory tests may be more difficult to obtain and interpret and underlying conditions may be untreatable. DIC occurs commonly in such neonates, and transfusion therapy, with or without heparin, is often unsuccessful. A persistent dilemma are those neonates with fatal intravascular haemorrhage, in whom definable haemostatic abnormalities are few and transfusion therapy is futile.
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PMID:Neonatal coagulation: normal physiology and pathophysiology. 35 Apr 67

During the last 9 years, two factor IX concentrates produced in Scotland, PPSB and DEFIX, have been used for the treatment of haemophilia B and acquired coagulation disorders, including those due to liver disease, coumarin therapy, neonatal immaturity and post-operative bleeding. During the period of study 112 batches of DEFIX and 40 batches of PPSB were used in the Edinburgh and South-East Scotland Region. Data were analysed from 575 non-haemophilic patients, receiving 968 treatment episodes, as well as 24 haemophiliacs. Serial coagulation studies and analysis of retrospective data showed that both concentrates corrected the coagulation deficiencies in all the above patient groups; in no case was there any evidence of intravascular coagulation resulting from concentrate infusion.
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PMID:The use of factor IX concentrates in man: a 9-year experience of Scottish concentrates in the South-East of Scotland. 743 48

The therapeutic field of in utero transplantation of stem cells, into human fetuses, has developed since 1988 with the hope of improved probability of engraftment and tolerance, due to immune immaturity of the host. Fifteen years later, it is possible to evaluate the results that we and others have obtained in the treatment of several fetal diseases. Seven fetal patients have been treated in Lyon: In 2 cases, pregnancy termination was induced by the in utero injection; in the 5 other cases, engraftment was obtained and repeatedly documented with presence of donor HLA antigens and/or Y chromosome in recipients. In the 2 patients with combined immunodeficiency disease, a sustained reconstitution of immunity was obtained as a result of the transplant but other complications occurred thereafter. In patients with thalassemia major, Niemann-Pick disease or hemophilia, a very partial and very transitory benefit was only obtained. Approximately 33 other patients with immunodeficiencies, hemoglobinopathies or inborn errors of metabolism have been treated worldwide, over the last 13 years, with a comparable method, using parental or fetal stem cells transplanted in utero. Successful treatment has usually been recorded in immunodeficiencies, and insufficient results have been obtained in the other cases. This form of treatment can therefore be recommended after prenatal diagnosis of combined immunodeficiency but additional research is required to improve the degree of engraftment, the lack of resistance of the host and the 'space' available for hematopoiesis in the other conditions.
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PMID:Reappraisal of in utero stem cell transplantation based on long-term results. 1519 88

Menorrhagia at the time of menarche is relatively common and historically attributed primarily to immaturity of the pituitary-ovarian-uterine axis. Intuitively, a proportion of these patients should have an underlying disorder of haemostasis, given the 5-20% prevalence of von Willebrand's disease and the > or =20% prevalence of platelet dysfunction in light of recent epidemiological studies in menorrhagia, although the average age of the patients in those studies has been approximately 35 years. However, there are a few comprehensive studies in the adolescent population determining whether widespread haemostasis evaluation should be carried out in adolescents presenting with menorrhagia. A retrospective chart review study of disorders of haemostasis was carried out in 61 consecutive adolescent patients, ages 11-19 at the time of evaluation referred to the Hemophilia Treatment Center (HTC)/Hematology unit. The mean and median ages were 15 +/- 2.2 and 14 years (11, 19), respectively. Standard evaluation included complete blood count, prothrombin time, partial thromboplastin time, von Willebrand factor (VWF) levels and platelet aggregation. The proportion of patients with VWF deficiency was 22/61 (36%) [95% confidence interval (CI), 24-49%]; the proportion of patients with platelet aggregation abnormalities was 4/61 (7%) (95% CI, 2-16%). There was no difference in the frequency of additional muco-cutaneous bleeding symptoms. A relatively high proportion of adolescents are identified with an underlying disorder of haemostasis when referred to an HTC for evaluation of menorrhagia. This involves in part a selective referral bias, but underscores the role of the HTC in evaluating adolescents referred with menorrhagia for an underlying bleeding disorder, given the relatively high yield of haemostatic disorders detected in this setting.
Haemophilia 2007 Sep
PMID:The prevalence of disorders of haemostasis in adolescents with menorrhagia referred to a haemophilia treatment centre. 1788 Apr 54

Heavy menstrual bleeding (HMB) is a frequent complaint in adolescence. Although HMB is often caused by immaturity of the hypothalamic-pituitary-ovarian axis, bleeding disorders are another common yet often unidentified cause. The aim of this study was to examine the bleeding patterns and prevalence of inherited bleeding disorders among females referred for HMB to a multidisciplinary adolescent haematology clinic. We retrospectively reviewed the first 105 patients (ages 8-18 years) referred to this specialty clinic from February 2009 to December 2011. Using menstrual bleeding questionnaires and medical records, data were extracted regarding demographics, bleeding patterns, frequency and types of bleeding disorders identified, and prescribed interventions. Sixty-two per cent of patients were diagnosed with a bleeding disorder, including platelet storage pool deficiency (36%), von Willebrand's disease (9%), other platelet function defect (8%), Ehlers-Danlos syndrome (7%) and combined bleeding disorders (2%). Comparison of the bleeding profiles for females with and without a bleeding disorder revealed only three factors that were significantly different, including the reported regularity of patients' periods (P = 0.02), description of period flow (P = 0.04) and number of days of each period that the bleeding was described as 'heavy' (P = 0.007). Bleeding disorders are prevalent in adolescent females presenting to a specialty clinic. Specifically, a relatively high proportion of adolescents were diagnosed with platelet storage pool deficiency. In our small population, menstrual bleeding profiles, as examined by a standardized questionnaire, could not identify females with an underlying bleeding disorder, demonstrating the important role of haemostasis testing in the evaluation of adolescents with HMB.
Haemophilia 2013 Jan
PMID:Menstrual bleeding patterns and prevalence of bleeding disorders in a multidisciplinary adolescent haematology clinic. 2300 46