We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated with unilateral lung aplasia. Gadolinium enhanced three-dimensional magnetic resonance angiography demonstrated associated right-sided aortic arch and left pulmonary artery agenesis.

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BackgroundAdult onset Still’s disease (AOSD) is a rare, auto-inflammatory disease that commonly presents as fever of unknown origin (FUO), and most common rheumatologic cause of FUO. Clinical and/or laboratory parameters that can discriminate AOSD from other causes of FUO need to be clarified in current literature.ObjectivesTo determine clinical and/or laboratory parameters that help to differentiate AOSD from other causes of FUO and demonstrating a clinician-friendly algorithm for this purpose.MethodsData from patients who admitted to Hacettepe University Hospitals, inpatients sections of department of internal medicine with the complaint of FUO, who eventually had a certain diagnosis, collected prospectively during 30 months. AOSD patients followed at Hacettepe University department of rheumatology were included. Clinical and laboratory data were collected at the time of diagnosis of AOSD and time of admission of patients with FUO.ResultsTotal 156 patients (n=69, for AOSD; n=87, for FUO) were included. FUO group were also divided into three subgroups: rheumatologic (n=31, 35.6%), infectious (n=28, 32.2%) and malignant (n=28, 32.2%) causes. While 51 (74%) patients were female in AOSD group, 43 (49,4%) patients were female in FUO group (p=0.03). Frequency of rash, arthralgia, arthritis, sore throat, fever at night (p<0.001 for each), history of hemophagocytosis (p=0.037) were significantly higher in AOSD group. Fever peak number equal and/or higher than 3, presence of lymphadenopathy (p=0002 and p=0,001,respectively) were significantly higher in FUO group. While leukocytosis, neutrophilia, thrombocytosis, hyperferritinemia, higher lactate dehydrogenase and complement 3 levels (p<0.001 for each) were significantly more frequent in AOSD group, albumin levels lower than 3 g/dl and positive rheumatoid factor (p=0.009 and p=0.002,respectively) were significantly more frequent in FUO group. Results of univariate and multivariate analysis are given in table 1. Algorithm for discrimination of AOSD and FUO is given at Abstract SAT0608 – figure 1.Abstract SAT0608 – Table 1Results of univariate and multivariate analysisUnivariate AnalysisMultivariate Analysis VariablesOdds RatioConfidence Intervalp valueOdds RatioConfidence Intervalp value Favours Still’sFever at night7,663,53–16,5<0001Rash10,084,80–21,2<000131,33,6–271,9 0002Arthritis6,583,09–14,01<0001Arthralgia3610,46–123,8<0001158,14,3–5755,80006Sore throat27,7211,58–66,33<000120,82,8–154,70003Hemophagocytosis4,790,96–23,890079Neutrophilia10,874,90–24,13<000118,42,6–132,30004Ferritin≥5 x UNL4,882,34–10,16<0001132,87,1–2502,90001LDH7,122,35–21,59<00016,20,76–50,90087C33,201,47–7,000003Female2,901,46–5,730002Favours FUOPleuritis2,040,68–6,120,19Fever peak number≥33,661,16–11,520019692,2–2114,40015Lymphadenopathy3,391,72–6,79<0001UNL: Upper normal limit (for ferritin: 336 ng/ml)ConclusionsPresence of arthralgia, hyperferritinemia, sore throat and neutrophilia strongly favour AOSD in patients presenting as FUO. This study demonstrates a clinician-friendly algorithm for the f...

Aim: Hypertension is an important risk factor in the development of atherosclerosis . Our aim in this study was to determine the relationship between mean platelet volume (MPV) which is a risk factor of atherosclerosis and intima media thickness (IMT) of carotid artery and flow-mediated dilatation (FMD), markers of atherosclerosis, in patients with essential hypertension. Material and Methods: 50 adults, applying to Kirikkale University Medical Faculty department of internal medicine, (outpatient) clinics, diagnosed as hypertensive for the first time Were included in the study. Their ages ranaed between 18 to 80 nd. We included 50 healthy participants to the study as control group. Carotid Artery Doppler ultrasonography and flow-mediated dilatation (FMD) with the brachial artery ultrasonographic measurment technique was performed by using Ecography (General Electric Vivid S5) and 12 L probe for each patient. Results: In this study statistically significant relationship was found between IMT and age. In the hypertensive group, IMT of carotid artery was found to be higher in comparison with the control group. However this result was'nt statistically significant. There were no statistically significant difference in MPV, FMD or IMT hypertensive and control groups. Small number of the participants and relatively younger mean age of the groups may lead to this result and can be considered as a limitation of this study. Conclusion: Determining atherosclerosis earlier in patients with essential hypertension may provide development of new treatment modalities. In order to conclude more confidentIy extended studies with larger patient groups are needed.

BackgroundHemophagocytic syndrome (HS) is a severe, potentially life-threatening, hyperinflammatory disorder. It is difficult to distinguish reactive HS (RHS) form other diseases such as sepsis, rheumatic diseases, and malignancies. Recently, Fardet et al have developed a score called HScore to help clinicians in the differential diagnosis of RHS.ObjectivesOur aim was to analyze the performance of HScore (with and without bone marrow criteria) for RHS diagnosis in rheumatic diseases and to determine the best cut-off values for this subgroup of patients.MethodsWe have retrospectively reviewed the medical records of patients with the diagnosis of RHS and rheumatic disorders who were evaluated in Departments of Rheumatology and Pediatric Rheumatology at Hacettepe University, Ankara, Turkey between 2002-2014. The first group (n=32) consisted of patients who had RHS and the control group (n=64) included patients with rheumatic diseases but not RHS. We have applied the HScore and examined the performances of different cut-off values. SPSS 15.0 for Windows is used for statistical analysis.ResultsWe have included a total of 32 patients in the RHS group. Of these patients, 14 (43.75%) had AOSD, 10 (31.25%) SJIA, six (18.75%) SLE, and two (6.25%) had vasculopathies. The control group (n=64) was consisted of 32 AOSD, 13 SJIA and 19 SLE patients who did not have RHS. Adult/pediatric patient ratios were 20/12 for RHS and 47/17 for control group. The HScore parameters and numbers of patients according to the categories of each parameter were summarized in Table 1. The best cut-off value was 190.5 with a sensitivity of 96.9% and specificity of 98.4%. In adult and pediatric subgroups, it had a sensitivity of 95% and 100%, and specificity of 97.9% and 100%, respectively. A lower cut-off value of 155.5 seemed to perform better with a sensitivity of 96.9% and specificity of 84.4% when we excluded the bone marrow item of the HScore. This cut-off value had a sensitivity of 95% and 100%, and specificity of 80.9% and 94.1% in adult and pediatric groups respectively. Of note, in the pediatric subgroup, a higher cut-off value of 169.5 performed better with a sensitivity and specificity of 100%.ConclusionsAccording to the original study, the best cut-off value for the HScore was 169; however, in our study group, 190.5 performed better. Our results indicate that different cut-off values should be determined for RHS according to the different underlying disorders. We do not always perform bone marrow aspiration to determine hemophagocytosis for RHS diagnosis, especially in patients with rheumatic diseases. Thus, it may be more proper to use the HScore set without the bone marrow item especially in this subset of patients. Further prospective studies are needed to evaluate the strength and potential practical usefulness of the HScore in different patient group.ReferencesFardet L, Coppo P, Kettaneh A, Dehoux M, Cabane J, Lambotte O. Low glycosylated ferritin, a good marker for the diagnosis of hemophagocytic syndrome. Arthritis Rheum 2008;58(5...