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Congenital Deficiency (congenital + deficiency)
Selected AbstractsPituitary Transcription Factors: From Congenital Deficiencies to Gene TherapyJOURNAL OF NEUROENDOCRINOLOGY, Issue 9 2006M. H. Quentien Despite the existence of interspecies phenotypic variability, animal models have yielded valuable insights into human pituitary diseases. Studies on Snell and Jackson mice known to have growth hormone, prolactin and thyroid-stimulating hormone deficiencies involving the hypoplastic pituitary gland have led to identifying alterations of the pituitary specific POU homeodomain Pit-1 transcription factor gene. The human phenotype associated with rare mutations in this gene was found to be similar to that of these mice mutants. Terminal differentiation of lactotroph cells and direct regulation of the prolactin gene both require interactions between Pit-1 and cell type specific partners, including panpituitary transcriptional regulators such as Pitx1 and Pitx2. Synergistic activation of the prolactin promoter by Pitx factors and Pit-1 is involved not only in basal condition, but also in responsiveness to forskolin, thyrotrophin-releasing-hormone and epidermal growth factor. In corticotroph cells, Pitx1 interacts with Tpit. Tpit mutations have turned out to be the main molecular cause of neonatal isolated adrenocorticotrophin deficiency. This finding supports the idea that Tpit plays an essential role in the differentiation of the pro-opiomelanocortin pituitary lineage. The effects of Pit-1 are not restricted to hormone gene regulation because this factor also contributes to cell division and protects the cell from programmed cell death. Lentiviral vectors expressing a Pit-1 dominant negative mutant induced time- and dose-dependent cell death in somatotroph and lactotroph adenomas in vitro. Gene transfer by lentiviral vectors should provide a promising step towards developing an efficient specific therapeutic approach by which a gene therapy programme for treating human pituitary adenomas could be based. [source] Pulmonary embolism in a patient with severe congenital deficiency for factor V during treatment with fresh frozen plasmaHAEMOPHILIA, Issue 3 2005A. García-Noblejas Summary., Thrombosis is a rare complication in patients with congenital clotting factor deficiencies. In most cases, it is related to inherited procoagulant factors, use of central venous catheters or administration of coagulation factor concentrates. There are only a few case reports about thrombotic events during treatment with fresh frozen plasma (FFP). We report the case of a patient with homozygous inherited factor V deficiency, who developed a pulmonary embolism at a time of treatment with methylene blue treated FFP (MBFFP). The patient had only two other factors predisposing to thrombosis and both were acquired: obesity and bed rest. He started anticoagulant treatment with low molecular weight heparin (LMWH) while the deficient factors were replaced with MBFFP. After 8 days of treatment the patient developed a severe respiratory insufficiency. Pulmonary haemorrhage was considered among the differential diagnosis and LMWH was stopped. An inferior vena cava filter was placed without any further thrombotic complications. To our knowledge, there are no reports about patients with clotting factor deficiencies who developed a thrombotic event during treatment with MBFFP. [source] Haemostatic management of intraoral bleeding in patients with congenital deficiency of ,2-plasmin inhibitor or plasminogen activator inhibitor-1HAEMOPHILIA, Issue 5 2004Y. Morimoto Summary., Haemostatic management of intraoral bleeding was investigated in patients with congenital ,2-plasmin inhibitor (,2-PI) deficiency or congenital plasminogen activator inhibitor- 1 (PAI-1) deficiency. When extracting teeth from patients with congenital ,2-PI deficiency, we advocate that 7.5,10 mg kg,1 of tranexamic acid be administered orally every 6 h, starting 3 h before surgery and continuing for about 7 days. For the treatment of continuous bleeding, such as post-extraction bleeding, 20 mg kg,1 of tranexamic acid should be administered intravenously, and after achieving local haemostasis 7.5 mg kg,1 of tranexamic acid should be administered orally every 6 h for several days. In addition, when treating haematoma caused by labial or gingival laceration or buccal or mandibular contusion, haemostasis should be achieved by administering 7.5,10 mg kg,1 of tranexamic acid every 6 h. Tranexamic acid can also be used for haemostatic management of intraoral bleeding in patients with congenital PAI-1 deficiency, but is less effective when compared with use in patients with congenital ,2-PI deficiency. Continuous infusion of 1.5 mg kg,1 h,1 of tranexamic acid is necessary for impacted tooth extraction requiring gingival incision or removal of local bone. [source] Berend Houwen Memorial Lecture: ISLH Las Vegas May 2009INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2009The pathogenesis, management of thrombotic microangiopathies Summary Thrombotic microangiopathies are a relatively rare group of congenital and inherited disorders caused by defects in processing the ultra large forms of von Willibrand factor which pathologically give rise to platelet rich microthrombi in the micro arterial circulation leading to end organ damage particularly in the brain, heart and kidneys. Identification of the ADAMTS 13 gene has led to the definition of congenital deficiency of its activity or failure of activity due to the development of an inhibitory IgG antibody. The idiopathic autoimmune form of the disease is the most common. There are various subgroups of acquired TTP associated with HIV infection, pregnancy, pancreatitis, associated with bone marrow transplantation, various disseminated malignancies and certain drugs, particularly Clopidogrel. Diagnostic assays are now becoming widely available to identify ADAMTS 13 activity and also acquired antibodies to the enzyme. Mainline treatment is associated with daily plasma exchange with associated other immunosuppressant treatments particularly steroids and recently the use of Rituximab, a monoclonal anti-CD20 antibody. Despite improvement in treatment modalities there is still significant mortality of 10,20%, particularly if there is a delay in initiating plasma exchange. Relapse also occurs in 20,50% of patients although this may be improved by Rituximab therapy. [source] More on: discovery of ,2 -plasmin inhibitor and its congenital deficiencyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 1 2006M. J. GALLIMORE No abstract is available for this article. [source] Pulfrich's phenonenon in a case of optic nerve hypoplasiaOPHTHALMIC AND PHYSIOLOGICAL OPTICS, Issue 1 2008Gordon Heron Introduction:, Optic nerve hypoplasia (ONH) is a congenital deficiency of retinal ganglion cells and their axons that form the optic nerve. This condition is associated with visual deficits ranging from no light perception in severe cases to vision within normal ranges in mild cases of ONH. In mild cases, deficits can be limited to sectoral anomalies in the visual field and normal vision with colour vision anomalies have been reported. We report here a case of mild ONH with visual symptoms relating to Pulfrich phenomenon (PP) occurring spontaneously. Methods:, A 12 year girl presented with typical visual symptoms (bumping into objects when walking, poor object location at tennis) associated with the spontaneous PP. A simple pendulum revealed a perceived anticlockwise ellipse indicative of a left eye defect. This was neutralised by an 85% transmission filter placed before the right eye. The inter-ocular latency difference was calculated to be 0.88 (S.D., 0.55) ms. Results:, Fundus biometry showed an asymmetry in optic nerve size, the left being smaller than the right. Visual fields, anomaloscope and other colour vision tests, and both flash and pattern-reversal stimuli Visually Evoked Potentials showed no difference in visual function between the right and left eyes. Conclusions:, A case of very mild ONH gives inter-ocular normal vision and visual function and yet a subtle inter-ocular delay occurs resulting in visual symptoms associated with PP. These were completely removed with tinted spectacles. [source] 9/11 and the ,Problem of Imagination': Fight Club and Glamorama as Terrorist PretextsORBIS LITERARUM, Issue 2 2005Per Serritslev Petersen In the recently published 9/11 Commission Report, a major issue in the analysis of counterterrorist policy challenges is said to be ,the problem of imagination.' This problem cuts both ways, namely both in terms of the American intelligence bureaucracy's congenital deficiency in imagination (,Imagination is not a gift usually associated with bureaucracies'), and in terms of the Al Qaeda terrorists' astonishing possession of imagination and sophistication (,We learned about an enemy who is sophisticated, patient, disciplined, and lethal'). The 9/11 terrorists' imagination, I suggest, was embedded in a sophisticated cultural literacy as far as post-modern Americana are concerned, including an intimate knowledge of the apocalyptic imaginary that typifies much American fin - de - siècle fiction and film, and which, consequently, could and would serve as a reservoir of terrorist pretexts or scenarios. For the terrorist masterminding 9/11 knew exactly what he was doing: the apocalyptic phantasms of the post-modern American imaginary would be brought home to roost, as it were, with a vengeance. By way of illustration I focus on two texts, a film and novel, both produced in 1999, namely David Fincher's Fight Club and Brett Easton Ellis's Glamorama. [source] | ||||||||||