Association of macroscopic gut inflammation with disease activity, functional status and quality of life in ankylosing spondylitis

The aim of this cross-sectional study was to evaluate the frequency of intestinal inflammation and its association with disease activity, functional status and quality of life in patients with ankylosing spondylitis (AS). A total of 25 patients with AS had undergone ileocolonoscopy and concomitant histological study. Clinical and demographical parameters, BASDAI, BASFI, and SF-36 scores were compared between patients with and without macroscopic gut inflammation (MGI). Colonoscopic study revealed MGI in 9 patients and macroscopically normal gut mucosa in 16 patients. On histological examination, of 25 patients 20 had gut inflammation, mostly in ileum. BASDAI score was higher (P < 0.05), SF-36 pain and physical scores, and chest expansion measurement were lower (P = 0.00, P = 0.01, P = 0.01), duration of morning stiffness was longer (P = 0.01) in patients with MGI. Serum C-reactive protein, erytrocyte sedimentation rate levels were similar between groups (P > 0.05). There is high prevalence of histological gut inflammation in AS patients. More active disease should suggest gut inflammation in AS patients.     

Clinical significance of hepatocyte growth factor, platelet-derived growth factor-AB, and transforming growth factor-α in bone marrow and peripheral blood of patients with multiple myeloma

Angiogenesis is a process that plays an important role in the growth and progression of cancer; growing evidence suggests that neovascularization is important in hematologic malignancies. Increased angiogenic potential has been identified in multiple myeloma (MM). In this study, investigators simultaneously measured the levels of hepatocyte growth factor (HGF), platelet-derived growth factor-AB (PDGF-AB), and transforming growth factor-alpha (TGF-/ga) through enzyme-linked immunosorbent assay in the bone marrow (BM) and peripheral blood (PB) of 30 patients with MM and 10 healthy controls. Differences in HGF values in BM sera were significant (P=.001) between patients and controls. In detailed analyses of HGF, PDGF-AB, and TGF-α, according to disease stage, a significant correlation was found between disease stage and BM HGF (P=.047), BM TGF-α (P=.021), and PB PDGF-AB (P=.006), respectively. When correlations between all other parameters were analyzed, significance was noted between PB TGF-α and lactate dehydrogenase (P=.02), PB TGF-α and PB HGF (P=.002), BM TGF-α and CD38 (P=.046), BM TGF-α and BM HGF (P=.000), BM TGF-α and BM PDGF-AB (P=.048), BM HGF and PB HGF (P=.044), and BM PDGF-AB and PB PDGF-AB (P=.000). BM HGF levels had a significant effect on overall survival, with disease severity assessed in terms of disease stage (P=.0018, log-rank test). These data show that in patients with MM, high levels of BM HGF, BM TGF-α, and PB PDGF-AB were associated with advanced disease stage; in addition, HGF played a significant role in disease processing and was related to disease severity. These findings have also led to the concept of a symbiotic relationship between the growth of myeloma cells and HGF, TGF-α, and PDGF-AB in BM.     

Reference interval of pregnancy-associated plasma protein-A in healthy men and non-pregnant women

ObjectiveThe serum pregnancy-associated plasma protein-A (PAPP-A) concentration is a predictor of ischemic cardiac events and renal impairment. However, the reference interval of PAPP-A has not been determined. This study determined the reference interval of PAPP-A in men and non-pregnant women.MethodsThe study enrolled 126 apparently healthy individuals (52 males and 74 females). The mean age of the men and women was 34.7 (range 20–66) years and 34.6 (range 18–65) years, respectively. Serum PAPP-A concentrations were determined using an ultrasensitive enzyme-linked immunoassay kit. Reference intervals were calculated using the bootstrap method.ResultsThe results for three subjects were outliers, so the reference interval of PAPP-A was calculated using the data for 123 subjects. PAPP-A was undetectable in 26 subjects. The reference interval of PAPP-A for men and women (with the 90% confidence interval) was <22.9 ng/mL (19.7–23.3) and <33.6 ng/mL (25.2–36.7), respectively. In male subjects, serum PAPP-A levels of smokers [3.10 (UD, 7.30) ng/mL] were significantly lower than that of non-smokers [11.00 (UD, 24.4) ng/mL] (p < 0.001) and there was a positive correlation between serum PAPP-A levels and subjects’ age (r = 0.439; p < 0.001).ConclusionsThe reference interval of PAPP-A differed for men and non-pregnant women. In clinical practice, <22.9 ng/mL for men and <33.6 ng/mL for non-pregnant women may be used as reference intervals for PAPP-A.     

β-Globin chain abnormalities with coexisting α-thalassemia mutations

Introduction

The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material and methods

We studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.

Results

We evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α^3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α^3.7/–α^3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of α^PolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α^3.7/αα with IVSI.110/S), and also a case who had –α^3.7/αα deletion with IVSI.110/A.

Conclusions

Although limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.     

Early assessment of pulmonary involvement in limited scleroderma. A case report

Limited scleroderma is typified by insidious progression of skin involvement. The onset of internal organ involvement is delayed until the second decade, the lungs being the most important from the prognostic point of view. Early detection of pulmonary lesions is of paramount importance. This paper presents a 16-year-old male patient with a history of Raynaud's phenomenon followed by progressive tightening of skin over the fingers, hands and face. He had early pulmonary involvement detected by high resolution computed tomography (HRCT) and proven by histopathologic examination as usual interstitial pneumonia; even the chest x-ray and pulmonary function tests were normal. A combination of prednisolone and D-penicillamine was planned for treatment because of his having both pulmonary and gastrointestinal system involvement. 99 m technetium diethylenetriamine pentaacetate (99 m Tc-DTPA) test is very sensitive for pulmonary lesions and it has shown a rapid clearance in the early stage. This method is also useful for following up the therapeutic trial.