Rheumatoid arthritis and membranoproliferative glomerulonephritis: an unusual case

SUMMARY: Renal involvement is not uncommon in rheumatoid arthritis (RA). Many RA patients have renal dysfunction either secondary to the drugs used to treat arthritis or because of the chronic inflammation. Renal pathologies have often included amyloidosis, drug-related renal disease and mesangial glomerulonephritis. However, membranoproliferative glomerulonephritis has only been rarely reported. We report a case of rheumatoid arthritis associated with membranoproliferative glomerulonephritis that rapidly progressed to end-stage renal disease.     

Comparative genomic hybridization of 49 primary retinoblastoma tumors identifies chromosomal regions associated with histopathology,progression, and patient outcome

Forty-nine primary retinoblastoma (Rb) tumors were analyzed by the use of comparative genomic hybridization (CGH), and clinical/histological correlations were performed. Adverse histological factors were present in 13 patients. Chromosomal imbalance was a frequent phenomenon, seen in 96% of the tumors. Gain of 6p represented the most frequent event (69% of the tumors), whereas +1q was observed in 57%, confirming that these abnormalities are key secondary events in retinoblastoma tumor progression. Loss of 13q and 16 was significantly associated with tumors displaying adverse histo-prognostic factors, whereas -16q was significantly associated with tumors without adverse features. In three patients who developed an extra-ocular relapse, the tumors showed -13q and 2/3 had -5q, suggesting that these abnormalities may be associated with metastasis. Children >or= 36 months of age at enucleation tended to have more CGH abnormalities per tumor than children < 12 months (median numbers 11 vs. 3). In addition, +1q, +13q, -16, and -16q were more frequent in children with an older age at enucleation. Identical CGH changes were found in both tumors from one patient with bilateral tumors, suggesting a common origin. It is possible that tumors displaying loss of 13q and 5q indicate those patients who may suffer an adverse outcome and who would require alternative or more intensive therapy. CGH analysis on larger cohorts and in prospective clinical trials will be invaluable in determining whether a genetic classification of retinoblastoma represents a reliable measure of prognosis.     

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.     

Inherited vitamin K deficiency: case report and review of literature

Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors II, VII, IX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin K deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.     

Restoring sinus rhythm improves excessive heart rate response to exercise in patients with atrial fibrillation

The aim of this study was to investigate improvement in the cardiovascular response to isometric and isotonic exercises after reverting rhythm to sinus in patients with atrial fibrillation. Twenty seven cases with nonvalvular paroxysmal atrial fibrillation were included in the study. Sinus rhythm could not be restored in two cases so they were excluded. The remaining cases were divided into two groups according to the existence of cardiac diseasc. Group 1 (n:14, mean age. 60.8 +/- 14.9 years) included cases with cardiac diseases (8 of the patients had hypertension in addition to the cardiac disease) and group 2 (n:11, mean age. 64.8 +/- 13.9 years) included those without cardiac disease (patients with hypertension and diabetes mellitus). Isometric and isotonic exercise tests were performed in all of the patients before and 48 hours after the rhythm was reverted to sinus and the values in atrial fibrillation were compared with those in sinus rhythm (following cardioversion). The isotonic exercise period increased significantly in only group 1 patients following cardioversion (P = (0.0061). In both groups, the increase in heart rate during atrial fibrillation was significantly higher compared to those after being reverted to sinus, at all stages of the isotonic exercise (in groups 1 and 2, heart rate in patients with atrial fibrillation increased from 96.5 +/- 19.3 to 173.3 +/- 19.3 beats/min and 96.1 +/- 12.6 to 185.0 +/- 12.1 beats/ min, respectively; and in sinus rhythm, it ranged from 85.1 +/- 11.4 to 164.6 +/- 9.1 beats/min and 81.3 +/- 11.4 to 157.6 +/- 15.1 beats/min, respectively). Systolic arterial pressure increased significantly during atrial fibrillation in group 1, at the 2nd stage of the isotonic exercise test (P = 0.0070). In group 2, systolic arterial pressure increased significantly at the 3rd stage in sinus rhythm and at the 4th stage when in rhythm in atrial fibrillation. Also, diastolic arterial pressure increased significantly during atrial fibrillation only at the 3rd stage of the exercise. As a result, restoring sinus rhythm by cardioversion improves excessive heart rate responses to exercise significantly in patients with atrial fibrillation during both isometric and isotonic exercises. Also, we have revealed that the exercise time increased significantly by restoring sinus rhythm in patients with heart disease.     

Evaluation of radiopacities of CAD/CAM restorative materials and resin cements by digital radiography

Clinical Oral Investigations - This study aims to compare the radiopacities of computer-aided design/computer-aided manufacture (CAD/CAM) blocks and the adhesive cements used for their bonding. 1...     

Negative serology: could exclude the diagnosis of brucellosis?

Two cases of brucellar spondylodiscitis of the lumbar area were presented. Although both cases showed typical radiological changes, serological tests could not detect Brucella agglutinating antibodies. One of the patients was bacteremic and Brucella spp. was identified from blood culture. In the second patient needle biopsy was required for definite diagnosis. Although small, serologic tests have a certain rate of false negative results in brucellosis. Thus, a negative serology should not exclude the diagnosis of brucellosis, as it is demonstrated in the current cases.     

Effect of the body mass index on outcomes of flexible ureterorenoscopy

The aim of the study to compare outcomes of flexible ureterorenoscopy in patients with different body mass index (BMI) scores and to explore whether the BMI has an effect on outcomes of RIRS. Five hundred and two patients who underwent flexible URS in 3 centers between 2008 and 2012 for the management of single upper urinary tract calculi were retrospectively reviewed. Patients were categorized as normal weight BMI 18.5 to 24.99 kg/m², overweight 25 to 29.99 kg/m², obese 30 to 39.99 kg/m² and morbid obese >40 kg/m².The groups were assessed in terms of demographic parameters including age, gender, stone size, intraoperative and postoperative variables. The mean patient age was 41.3 ± 15.51 (18–81) years and with an average BMI 26.68 ± 5.2 kg/m² (16.64–55.15 kg/m²). Of the patients, 43.2 % had normal weight (NW), 32.2 % were overweight (OW), 21.9 % were obese (O) and 2.5 % were morbidly obese (MO). Stone-free rates after single procedure in NW, OW, O, MO groups were 60.8, 61.7, 73.6, 61.5 %, respectively (p = 0.079). Overall targeted stone-free rates were also similar in four groups (88.9, 90.1, 93.6, 90.4 %, p = 0.586). There were no statistically significant differences in the frequency of complications and mean hospitalization time among the groups (p > 0.05). In conclusion, this study demonstrated that flexible URS is a valuable option for the treatment of kidney stone in both obese and non-obese patients. BMI did not influence the postoperative outcomes.