Molluscan and vertebrate immune responses to bird schistosomes

There is a growing understanding of risks posed by human contact with the cercariae of bird schistosomes. In general, there are no fundamental biological differences between human and bird schistosomes in terms of their interactions with snail and vertebrate hosts. The penetration of host surfaces is accompanied by the release of penetration gland products and the shedding of highly antigenic surface components (miracidial ciliated plates and cercarial glycocalyx) which trigger host immune reactions. New surface structures are formed during transformation: the tegument of mother sporocysts and the tegumental double membrane of schistosomula. These surfaces apparently serve as protection against the host immune response. Certain parasite excretory-secretory products may contribute to immunosuppression or, on the other hand, stimulation of host immune reactions. Discovery of new species and their life cycles, the characterization of host-parasite interactions (including at the molecular level), the determination of parasite pathogenicity towards the host, the development of tools for differential diagnosis and the application of protective measures are all topical research streams of the future. Regularly updated information on bird schistosomes and cercarial dermatitis can be found at http://www.schistosomes.cz (web pages of Schistosome Group Prague).     

Clinical utility of selected disease activity markers in patients with systemic lupus erythematosus

The objective of this study was to assess the utility of measurement of thrombomodulin, antinucleosome antibodies, sVCAM-1, sICAM-1, neopterin, fas ligand, IL-10 and sIL-2R in patients with systemic lupus erythematosus (SLE) and to compare them with traditional markers of SLE activity (anti-dsDNA antibodies, C3, C4) and the ECLAM index of disease activity. The measurement was performed over a 6-month period at three consecutive time points after 3 months in each of the 52 patients with SLE. Anti-dsDNA antibodies, thrombomodulin, antinucleosome antibodies, sVCAM-1m sICAM-1, neopterin, fas ligand, IL-10 and sIL-2R were tested by ELISA technique, while C3, C4 components of complement were tested by nephelometry. Fas ligand and IL-10 did not correlate with the ECLAM index. The rest of the markers showed significant correlation with the disease activity index. Thrombomodulin and anti-dsDNA antibodies reflect in the best way the changing trend in disease activity. Antinucleosome antibodies seem to be a promising marker useful in early diagnosis. Soluble VCAM-1, sICAM-1, neopterin and sIL-2R are interesting molecules with a role in disease pathogenesis, but their practical utility is limited. Received: 27 September 2000 / Accepted: 31 March 2001     

Valvular prosthesis and anticoagulant treatment

67 patients with prosthetic valvular replacement have been followed up for a period ranging from 6 months to 9 1/2 years; the overall number of valves was: 53 mitral, 24 aortic, 10 tricuspid valves. The average age of our patients was young (23.6 years). Many patients, because of their age or by lack of discipline or because of their social condition, had an inefficient anticoagulant treatment; they were subdivided into three groups. Those who stopped their anticoagulant treatment 6, those treatment was inefficient 25; in these two groups, no thrombo-embolic accident was noted, those whose treatment was efficient with a prothrombin time permanently lower than or equal to 40%: 36. It is in this very series that three cases of thrombosis occurred, two of which were lethal. Thus, although the indication for an anticoagulant treatment in patients with prosthetic valvar replacement remains indisputable, one may wonder, in front of such results, if there are not other factors, besides anticoagulant treatment, that result in thrombo-embolic accidents.     

Severe refractory hypoxemia following a gunshot injury

We describe the case of a 57-year-old man with severe refractory hypoxemia, despite receiving ventilation therapy with 100% oxygen, following a gunshot wound to his left chest. A limited CT scan of the chest with contrast raised the suspicion of an arteriovenous (AV) fistula. Contrast-enhanced transthoracic echocardiography confirmed the presence of a pulmonary AV fistula. Traumatic pulmonary AV fistula is a rare, but serious and life-threatening condition that should be suspected in patients with thoracic injuries with persistent unexplained hypoxemia. Contrast echocardiography is a relatively simple, inexpensive, and readily available bedside test that can be used to confirm this diagnosis.     

The importance of determining the viability of the myocardium prior to revascularisation in patients with ischaemic cardiomyopathy and left ventricular systolic dysfunction

Chronic heart failure is a worldwide clinical syndrome with substantial socio-economical impact. The aim of this overview is the summary of contemporary knowledge in epidemiology, elementary pathophysiological implications and some possibilities of treatment of ischemic cardiomyopathy, which represents the most frequent cause of heart failure in developed countries. Emphasis is on the right indication for myocardial revascularization as a causal option of therapy of ischemic cardiomyopathy, timing and risk of revascularization and especially on importance of assessment of viability of myocardium using presently available imaging methods.     

Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes

Journal of Clinical Immunology - Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various...     

Population data and genetic characteristics of 12 X-STR loci using the Investigator® Argus X-12 Quality Sensor kit for the Kedayan population of Borneo in Malaysia

International Journal of Legal Medicine - DNA profiling of X-chromosomal short tandem repeats (X-STR) has exceptional value in criminal investigations, especially for complex kinship and incest...     

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity,Primordial Dwarfism,and Neurological Abnormalities

DNA double‐strand break repair via non‐homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T‐cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appearance, and erythema, which are suggestive of a new type of NHEJ deficiency. We identified two heterozygous mutations in LIG4. The p.S205LfsX29 mutation results in lack of the nuclear localization signal and appears to be a null mutation. The second mutation p.K635RfsX10 lacks the C‐terminal region responsible for XRCC4 binding and LIG4 stability and activity, and therefore this mutant might be a null mutation as well or have very low residual activity. This is remarkable since Lig4 knockout mice are embryonic lethal and so far in humans no complete LIG4 deficiencies have been described. This case broadens the clinical spectrum of LIG4 deficiencies.