Bone health in pediatric transfusion-dependent beta-thalassemia: Circulating osteoprotegerin and RANKL system.

INTRODUCTION: While the mechanism of bone disease in thalassemia is multifactorial and still under investigation, the receptor activator of nuclear factor kappa B (RANK), receptor activator of nuclear factor kappa B ligand (RANKL), and osteoprotegerin (OPG) have pivotal roles in regulating bone metabolism. This study aimed to measure RANKL and OPG serum levels, and to detect the incidence of RANKL rs9533156, OPG rs2073618, and OPG rs2073617 genotypes in pediatric ß-thalassemia patients and to assess their relation to bone mineral density. METHODS: Sixty patients with transfusion-dependent ß-thalassemia (TBT) patients ages 5 to 14 years were included, and 60 healthy, age- and sex-matched volunteers contributed as a control group. The patients were scanned for bone mineral density. RESULTS: The mean of spine dual-energy X-ray absorptiometry (DXA) Z-score in patients was -1.66 ± 1.02 standard deviation (SD). Twenty-four of them had low spine DXA Z-scores. The patients showed significantly lower OPG levels and OPG/RANKLs ratios than the control group (3.28 ± 9.11 ng/ml and 11.38 ± 14.93 ng/ml, and 0.01 ± 0.03 and 0.07 ± 0.09, respectively). The RANKL SNP rs9533156 TC heterozygous genotype was detected more with statistical significance in patients than controls. The incidence of OPG rs2073618 and OPG rs2073617 genotypes were 2.3 times and 1.9 times more frequent in patients than controls, respectively. CONCLUSION: The RANK/RANKL/OPG system may have an important role in regulating bone metabolism in TBT patients, although further studies are needed to clarify its role.

Prenatal prediction of respiratory distress syndrome by multimodality approach using 3D lung ultrasound, lung-to-liver intensity ratio tissue histogram and pulmonary artery Doppler assessment of fetal lung maturity.

OBJECTIVE: Studying the correlation of different lung parameters, using three-dimensional ultrasound (3D US) with fetal lung maturity (FLM) to predict the development of neonatal respiratory distress syndrome (RDS). METHODS: Three-dimensional ultrasound was done to record the fetal lung volume (FLV), fetal lung-to-liver intensity ratio (FLLIR) and the main pulmonary artery (MPA) blood flow parameters; pulsatility index (PI), resistive index (RI) and acceleration time-to-ejection time ratio (At/Et), to 218 women between 32 and 40 weeks gestational age within 24 h from labor. RESULTS: Of 218 fetuses examined, final analysis was done for 143 fetuses. Thirty eight (26.5%) were diagnosed with RDS. The MPA PI and RI were significantly higher in fetuses diagnosed with RDS compared with those without (2.51 ± 0.33 and 0.90 ± 0.03 cm/s versus 1.96 ± 0.20 and 0.84 ± 0.01 cm/s; p value < 0.001 and <0.001 respectively). MPA At/Et was significantly lower (0.24 ± 0.04 vs 0.35 ± 0.04; p value < 0.001). FLLIR was significantly lower (1.04 ± 0.07 vs 1.18 ± 0.11; p value < 0.001), and the mean FLV was significantly smaller (28.23 ± 5.63, vs 38.87 ± 4.68 cm3; p value < 0.001). CONCLUSION: Main pulmonary artery (PI, RI, At/Et ratio), FLIIR, and mean FLV can be used as reliable predictors of neonatal RDS. ADVANCES IN KNOWLEDGE: 3D ultrasound VOCAL technique, ultrasound tissue histogram and pulmonary artery Doppler are reliable tools for prenatal prediction of fetal lung maturity.

The relation between dual energy x-ray absorptiometry measurement of body fat composition and plasma ghrelin in patients with end-stage renal disease.

OBJECTIVE: To clarify the role of ghrelin in malnutrition in uremia and its relationship to fat composition using dual x-ray absorptiometry (DXA). METHODS: This is a cohort study including Group I: 60 patients with end stage renal disease 30 on hemodialysis [group IA] and 30 pre-dialysis [group IB] and Group II: 20 controls. This study was carried out in Cairo University Hospital, Kasr Al-Aini, Cairo, Egypt in 2007. Body fat composition (total, differential, and lean body mass) was assessed using DXA, and plasma ghrelin was measured. RESULTS: Ghrelin was significantly higher in hemodialysis and pre-dialysis groups compared to the control group, and higher in hemodialysis group compared to the pre-dialysis group. In hemodialysis, ghrelin was negatively correlated with weight, body mass index (BMI), and truncal fat mass, and positively correlated with serum creatinine. In pre-dialysis, ghrelin inversely correlated with weight, BMI, and truncal fat mass, and positively correlated with serum creatinine, lean body mass. In control, plasma ghrelin showed negative correlation with weight, BMI, truncal fat mass, and body fat mass, and positive correlation with lean body mass. CONCLUSION: Ghrelin was markedly elevated in renal failure due to its decrease in excretion. Negative correlation between ghrelin and fat composition was detected in dialysis patients. Serial evaluation of body fat composition using DXA is recommended for assessment of nutritional status of those patients.

Breast discharge: ultrasound and Doppler evaluation.

BACKGROUND: Nipple discharge causes discomfort and anxiety to many women. Nipple discharge is most commonly associated with endocrine alterations and/or medications. These often result in duct ectasia and/or fibrocystic changes that may lead to discharge from one or several ducts. The most common cause of clinically significant discharge is intraductal growth of the ductal epithelium, due to hyperplasia, micropapillary proliferation, solitary papillomas and/or ductal carcinoma (both in situ and invasive). The aim of the study was to evaluate the role of the gray-scale ultrasound and colour Doppler in the diagnosis of intraductal pathology in patients with nipple discharge. PATIENTS AND METHODS: One hundred & seven patients were included in the study, (age range 23-65years). Standard mammographic views were taken. Ultrasound evaluation was performed for all cases; ductography for 20 cases and ductoscopy for 3 cases. US guided fine needle biopsy was done in 7 cases; microducectomy of affected duct was done in 20 cases and major duct excision in 5cases. Fibro-optic Ductoscopy is performed for 3 cases. RESULTS: Revision of biopsy specimens of 17 cases with intraluminal masses detected by US revealed: Six cases with intraductal carcinoma, intraductal papilloma in 7 cases, 1 case of ductal papillomatosis. Three cases showed atypical cells: Intraductal papilloma with atypia in 2 cases, proliferative hyperplasia with atypia in one case. Eighty eight cases had simple duct ectasia (51 bilateral multiple and 37 focal duct ectasia). No dilated ducts were detected in 2 cases. Fibro-optic Ductoscopy confirmed the presence of intraductal papilloma in one case, carcinoma in one case, no intraductal masses in the third case. A 6 months follow-up was requested for all cases with no detected intra luminal pathology. Ultrasound examination is highly sensitive (100%) but less specific (82.4%) in diagnosis of intraductal pathology. Colour & power Doppler are sensitive (94%) in detecting flow in intraductal echogenic masses to differentiate them from insipissated secretions. Colour and power Doppler raises specificity and diagnostic accuracy to 100%. Ductography is an underused procedure that is sensitive (100%) but less specific (60%) in characterization of intraductal filling defects. CONCLUSION: Ultrasonography is a mandatory complement to mammography in these cases, US guided fine needle biopsy is minimally invasive technique in confirming the diagnosis of suspicious mass. Ultrasound may also be a guide to fibro-optic ductoscope. KEY WORDS: Ductography - Nipple discharge - Intraductal carcinoma - Intraductal papilloma - In situ ductal carcinoma - Invasive ductal carcinoma - Duct ectasia - Breast ductoscopy.