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Haematological Abnormalities (haematological + abnormality)

Distribution by Scientific Domains

Medical Sciences	83%

Selected Abstracts

Autoimmune cytopenias in the 22q11.2 deletion syndrome

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2003
J. K. Davies
Summary We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis. [source]

Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 6 2003
U Jappe
ABSTRACT Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now. [source]

Characterization of tanshinones in the roots of Salvia miltiorrhiza (Dan-shen) by high-performance liquid chromatography with electrospray ionization tandem mass spectrometry

RAPID COMMUNICATIONS IN MASS SPECTROMETRY, Issue 8 2006
Min Yang
The qualitative analysis of tanshinones in the roots of Salvia miltiorrhiza (Dan-shen in Chinese) was performed using high-performance liquid chromatography with electrospray ionization tandem mass spectrometry (ESI-MSn). Tanshinones are the major bioactive constituents of Dan-shen, which is used in China for the treatment of haematological abnormalities and cardiovascular diseases. The ESI-MSn fragmentation behavior of tanshinones was investigated. For tanshinones with the tanshinone I nucleus, the fragmentation was triggered by loss of a molecule of CO except bearing a substituent at C17 or C18, followed by sequential eliminations of CO. If C15,16 was a saturated bond, the fragmentation was triggered by elimination of a molecule of H2O. For tanshinones with the tanshinone IIA nucleus, the fragmentation was triggered by loss of a molecule of H2O, followed by successive eliminations of CO. Ions corresponding to loss of a molecule of propylene (,m,=,42) were also observed. Moreover, when C15,16 was a saturated bond, ions corresponding to losses of CH3, H2O and propylene were more abundant. If no D-ring existed, the presence of isopropyl resulted in an elimination of a molecule of H2O with an adjacent CO or OH. In addition, the extension of the , -conjugation in the A-ring (especially at C1,2) induced the fragmentation by loss of a molecule of CO. These fragmentation rules were applied to the identification of tanshinones in a chloroform/methanol (3:7) extract of Dan-shen, which was separated on a C18 column with gradient elution. A total of 27 tanshinones were identified, including five new constituents. The established method could be used for the sensitive and rapid identification of tanshinones in the Dan-shen drug and its pharmaceutical preparations. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Awareness of glucose-6 phosphate-dehydrogenase deficiency in celiac disease

ACTA PAEDIATRICA, Issue 5 2010
FO Hosnut
Abstract Individuals with celiac disease (CD) are predisposed to a number of haematological abnormalities including anaemia secondary to malabsorption of iron, vitamin B12 or folate; anaemia of chronic disease and coagulopathy secondary to vitamin K deficiency. Correction of coagulopathy with vitamin K is necessary before endoscopic biopsy in patients with suspected CD. However, vitamin K causes haemolysis in glucose-6 phosphate-dehydrogenase deficiency. Conclusion:, When vitamin K administration becomes necessary for correction of coagulopathy in patients with CD; glucose-6 phosphate-dehydrogenase deficiency should be considered. [source]

Hantavirus Puumala infection as a cause of fever of unknown origin in a child

ACTA PAEDIATRICA, Issue 8 2004
J van der Werff ten Bosch
Hantavirus infection due to Puumala virus causes nephropathica epidemica, a disorder characterized by fever, haematological abnormalities, mild renal dysfunction and ophthalmological abnormalities. The prevalence in most European countries is low, but the virus can be endemic. In children, hantavirus infection is rare. This paper describes a young girl diagnosed with hantavirus infection. The patient presented with high fever, proteinuria, haematuria and eye lesions, but other typical hallmarks of the disease, such as thrombocytopenia and renal dysfunction, were absent. Conclusion: This case report demonstrates the need to consider the diagnosis of hantavirus infection in children with prolonged fever of unknown origin. The diagnosis is based on serological tests. [source]

Necrobiotic xanthogranuloma without paraproteinaemia: marked improvement with psoralen ultraviolet A treatment

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2010
F. A. Al-Niaimi
Summary Necrobiotic xanthogranuloma (NXG) is a rare granulomatous condition that is often associated with a paraproteinaemia and in some cases multiple myeloma. Treatment is therefore aimed at the underlying associated haematological abnormality. However, isolated NXG cases have been reported. We report a case of isolated NXG that responded very well to systemic psoralen ultraviolet A (PUVA) treatment. The rationale for this treatment was the successful use of PUVA treatment in other necrobiotic conditions such as granuloma annulare and necrobiosis lipoidica. [source]