Evaluation of serum levels of selected cytokine receptors in adult B-cell precursor acute lymphoblastic leukemia and their association with prognostic factors and survival.

AIM: To evaluate serum levels of selected cytokine receptors in B-cell precursor acute lymphoblastic leukemia (B-ALL) and their association with acknowledged prognostic factors, relapse-free survival (RFS) and overall survival (OS). MATERIALS AND METHODS: A total of 42 de novo adult B-ALL patients, 19 BCR/ABL positive, were included in this study. Soluble receptor α for IL-2 (sIL-2Rα), soluble receptor for IL-6 (sIL-6R), soluble receptor for TNF-α type I and II (sTNFR-1, sTNFR-2) and matrix metalloproteinase-9 (MMP-9) were measured by biochip array technology at diagnosis and in complete remission (CR). RESULTS: At diagnosis of B-ALL, we found significantly higher levels of sIL-2Rα, sIL-6R, sTNFR-1, sTNFR-2 and significantly lower levels MMP-9 in comparison with CR (p < 0.001 in all cases). BCR/ABL positive patients had higher levels of sIL-2Rα at diagnosis (r = 0.484; p = 0.014). Serum levels of evaluated cytokines were not associated with achievement of CR after one cycle of induction therapy, RFS or OS. CONCLUSION: Serum levels of all evaluated cytokines are significantly altered in newly diagnosed B-ALL reflecting activity of the disease. No significant correlations with response to first induction therapy, RFS or OS were found. Further studies with a longer follow-up will be needed.

A comparison of secondary prevention practice in poststroke and coronary heart disease patients.

OBJECTIVES: It is evident that patients with atherosclerotic vascular disease (AVD) benefit from appropriate secondary prevention. In clinical reality, the secondary prevention in AVD patients other than those with coronary heart disease (CHD) is often overlooked. Therefore, we compared the adherence to secondary prevention principles between poststroke and CHD patients. STUDY DESIGN: Descriptive (cross-sectional) study with prospective mortality follow-up. METHODS: We examined 1729 chronic patients with AVD (mean age 65.9 (±SD 9.6) years), 964 with CHD, and 765 poststroke (pooled data of Czech samples of EUROASPIRE III, IV, and the ESH stroke survey). The interview was performed 6-36 months after the coronary event/revascularization or the first ischemic stroke, while the mortality follow-up 5 years after this interview. RESULTS: Poststroke patients had a significantly higher risk of persistent smoking, blood pressure ≥140/90 mmHg and LDL ≥2.5 mmol/L than CHD patients [odds ratios adjusted for age, gender and survey were 1.63 (95% CI: 1.13-2.33), 1.38 (95% CI: 1.13-1.69) and 2.26 (95% CI: 1.84-2.78), respectively]. In contrast, poststroke patients showed a lower risk of inappropriate glucose control and hypertriglyceridemia [0.66 (95%CI: 0.54-0.82) and 0.74 (95%CI: 0.61-0.91), respectively]. The prescription rates of antiplatelets/anticoagulants, antihypertensives and statins were also significantly lower in poststroke than in CHD patients (89.4 vs 93.7, 85.9 vs 97.5, and 57.7 vs 89.8, respectively). Mortality analysis was performed in a subsample of 815 subjects interviewed in 2006/07. The 5-year all-cause mortality rates were 25.8% and 13.3% in poststroke and coronary patients, respectively (P = 0.0023); the hazard ratio for stroke adjusted for major risk factors was 1.85 (95% CI: 1.31-2.63). CONCLUSIONS: Compared to CHD patients, poststroke patients are strongly handicapped in terms of poor adherence to secondary prevention target, prescription of basic pharmacotherapies and mortality risk.

Tobacco smoking strongly modifies the association of prothrombin G20210A with undetermined stroke: consecutive survivors and population-based controls.

OBJECTIVE: Due to contradictory results of previous studies evaluating the association between ischemic stroke (IS) and thrombophilic polymorphisms, their routine screening in IS patients, particularly those older than 60 years, is not recommended. We evaluated the differences in the distribution of rs6025 and rs1799963 polymorphisms according to IS subtypes and their interaction with smoking. METHODS: We conducted a case-control study of 423 hospital-based consecutive survivors of their first-ever IS and 614 population-based controls. Survivors (18-81 years) with IS documented by brain imagining were examined at a median of 16 months after the index event. The stroke subtype was categorized using the Causative Classification of Stroke System. Controls (50-75 years) were free of a history of stroke/TIA, coronary heart disease, and venous thromboembolism. RESULTS: Age- and gender-adjusted prevalence of individuals carrying at least one copy of the rs1799963A minor allele was 5.3% among stroke survivors (by subtypes: 3.1% in large artery atherosclerosis, 2.0% in cardio-aortic embolism, 2.4% in small artery occlusion, and 10.3% in undetermined stroke) vs. 2.4% among controls. In multinomial multivariate adjusted analysis, rs1799963 was exclusively associated with undetermined stroke (OR: 3.67; 95% CI: 1.52-8.85; p = 0.004). There was strong evidence of rs1799963 × smoking synergistic interaction (OR: 5.14; 95% CI: 1.65-16.01; p = 0.005). There was no association of rs6025 with IS in general, or with any subtype. CONCLUSIONS: In our consecutive IS survivors, carriage of the rs1799963A allele is associated with undetermined stroke. This effect appears to be confined to smokers.

Lack of association between chronic periodontitis and the Toll-like receptor 4 gene polymorphisms in a Czech population.

BACKGROUND AND OBJECTIVE: Periodontitis is a bacterially induced chronic inflammatory disease and a major cause of tooth loss among adults. Toll-like receptors are signal molecules essential for the cellular response to bacterial cell wall components. The aim of this study was to investigate relationships between chronic periodontitis and variations in the TLR4 gene. MATERIAL AND METHODS: A total of 171 patients with chronic periodontitis and 218 unrelated controls were genotyped for the Asp299Gly (896A>G) and Thr399Ile (1196C>T) polymorphisms of the TLR4 gene. RESULTS: Both variants were in nearly complete linkage disequilibrium. No homozygotes for the less common alleles, 299Gly and 399Thr, respectively, were found. The prevalence of the Asp299Gly and the Thr399Ile heterozygotes was 5.3% and 5.0% in controls, and 7.0% and 7.0% in periodontitis patients. CONCLUSION: In conclusion, TLR4 gene polymorphisms were not significantly associated with the susceptibility to, or severity of, chronic periodontitis in our population.

Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis.

BACKGROUND: Adult periodontitis is a complex multifactorial disease whose etiology is not well defined. To investigate whether the genes encoded within the HLA class III region may confer susceptibility to periodontitis, polymorphisms in the ET-1 and TNF-beta genes were analyzed together with the I/D polymorphism of the ACE gene. METHODS: We determined allele and genotype frequencies of the NcoI bi-allelic polymorphism of the TNF-beta gene, the I/D (insertion/deletion) polymorphism of the ACE gene, and the TaqI polymorphism of the ET-1 gene in 63 Caucasian patients with adult periodontitis and 95 orally healthy controls. RESULTS: We found a significant difference in a 3 locus combination of genotypes between patients and controls (P<0.05). In the next analyses, no significant differences were found in allele frequencies of single genes, but we did find a significant difference in the genotype distribution between cases and controls for TNF-beta (P<0.03). Differences were also observed for 2 locus combinations of ACE and TNF-beta genotypes (P<0.03), and the ET-1 and TNF-beta (P<0.05) genes. Evidence of deviation from Hardy-Weinberg equilibrium was observed in the periodontitis group for TNF-beta, with an absence of the B1B1 homozygotes in patients. CONCLUSIONS: This study is of an exploratory nature. Considering the number of significant results, however, at least a part of the observed associations may obviously be real and our findings suggest that interactions of the TNF-beta, ET-1, and ACE genes may be involved in susceptibility to adult periodontitis.

Medial Flatness of the Femoral Trochlea in the Nail Patella Syndrome.

The knee joint of an adult male with a nail patella syndrome was examined by standard X-rays and by computerised tomography. The dysplasia of the femoral trochlea has a specific sign which distinguish it from the "common" dysplasia of the recurrent patellar luxation type: a straight line flatness of the medial margin on the profile. This sign should be useful for the diagnosis of incomplete forms of the nail patella syndrome. Key words: nail patella syndrome, osteo-onycho-- dysplasia, knee dysplasia.

Posteromedial fracture of the tibial plateau is not an avulsion injury. A case report and experimental study.

We report a case of an apparent avulsion fracture of the posteromedial margin of the medial plateau of the tibia. This was associated with a tear of the medial meniscus and rupture of the anterior cruciate ligament (ACL). This triad has been previously reported, and the plateau fracture was related to the insertion of the semimembranosus tendon. The detailed investigation of our case and some experiments on cadaver knees showed that the injury was not an avulsion fracture but was produced by varus and external rotation forces on a flexed knee. It was due to the anterior subluxation of the medial tibial plateau after rupture of the ACL.

[Epiphysiolysis of the upper extremities of the femur in idiopathic panhypopituitarism. Apropos of a case with review of the literature]. / Epiphysiolyse de l'extrémité supérieure du fémur au cours d'un panhypopituitarisme idiopathique. A propos d'un cas avec revue de la littérature.

A case of a 39 year old male patient with slipped capital femoral epiphysis and idiopathic panhypopituitarism is reported. A review of the literature shows that a slipped epiphysis with hypothalamo-hypophyseal dysfunction, may be observed either in a proportional pituitary dwarfism or in a skeletal disproportion of the eunuchoidal or even of the acromegalic type. This association leads to examine the causal role of the hormonal status.

[Problems of work incapacity of ambulatory patients at the Second Stomatological Clinic, Faculty Hospital with Policlinic, Pekarská, Brno]. / K problematice pracovni neschopnosti ambulantnich pacientu II. stomatologické kliniky FNsP v Brne.

The authors analyze the development of work incapacity in ambulatory patients treated in 1979-1987 by sex, age and period of work incapacity. They used graphic illustrations of time series with a regression line which indicates a rising or declining trend of work incapacity. The analysis revealed that the work incapacity has, with the exception of men aged 15-24 years, a rising trend in particular in women. According the authors this can be partly explained by changes and extension of therapeutic activities in ambulatory surgeries. Certain reserves are also in the planning of therapeutic procedures and control activity.

Radiographic diagnosis of hereditary chondrodysplasia in newborn lambs.

Normal appearing Suffolk lambs affected with hereditary chondrodysplasia (HC) and normal appearing unaffected lambs were radiographed at birth, and at 2, 4, and 8 weeks of age. In affected lambs, lesions were seen consistently in the elbows, shoulders, sternum, and spine. Similar lesions were not identified in unaffected lambs. A malformed Corriedale lamb was radiographed to compare its lesions to those seen in HC. The Corriedale lamb had islands of ossification of the anconeal process similar to those identified in lambs with signs of HC at birth. The islands of ossification seen in the Corriedale lamb were fused by 2 months of age, whereas elbow lesions seen in lambs with HC increased in severity during the same period.

Comparison of G-banded chromosomes from clinically normal lambs and lambs affected with ovine hereditary chondrodysplasia (spider syndrome).

Lymphocytes from 5 clinically normal lambs and 5 lambs affected with ovine hereditary chondrodysplasia (spider syndrome) were cultured, G-banded, and karyotyped. Fifty metaphase karyotypes and one heterogram were evaluated for chromosome number and morphologic features. All lambs had normal diploid (2n) chromosome numbers of 54,XX or 54,XY, and there were no apparent differences in the morphologic features of the chromosomes.

[Multiple capillary aneurysms]. / Multiple kapillare Aneurysmen.

Recurrent eruptions of small, black nodules resembling metastases of malignant melanoma in a 64-year-old male patient with diabetes mellitus are reported. Clinically, the lesions seemed to be angiomas. Histological examination revealed capillary aneurysms. To date there has been no spontaneous regression. Sclerosing injections or compression therapy had no effect. Only total excision of lesions was successful. The etiology of the disease is unknown. The patient had diabetic retinopathy with increased plasma levels of cholesterol.

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

Spondyloepiphyseal dysplasia.

Skeletal dysplasia with autosomal dominant inheritance was found in four members of one family and in one sporadic case. The syndrome comprises brachydactyly E, platyspondyly, abnormality of the sacroiliac joint, disturbance of metaphyseal modelling, epiphyseal dysplasia, and short stature. This study deals with a particular type of spondyloepiphyseal dysplasia and compares it with similar cases in two previously published papers.