The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk

Improving Functionality of Whole Egg Powder by the Addition of Gelatine, Lactose, and Pullulan

WOS: 000297457000016PubMed ID: 22416722The addition of gelatine (G), lactose (L), pullulan (P), and their mixtures at equal ratios (gelatine + lactose [GL] and gelatin + pullulan [GP]) to whole egg prior to drying was studied. Their effects on the functional properties (emulsion and gelling ability, water holding capacity of gel, foaming, color) and soluble protein content of spray dried egg powder during the 6 mo of storage at 20 degrees C and 50% relative humidity were investigated. It was demonstrated that the emulsion and foaming stability, water holding capacity of gel, and color change were significantly affected by the storage time, whereas storage time did not affect the strength of gel texture prepared by egg powders. Gelatine and pullulan improved the foaming stability and water holding capacity. Lactose caused a decrease in emulsion and foaming stability values. The maximum color change was observed for the plain egg powder, showing that mixing whole egg with carbohydrate- and/or protein-based additives before the drying process preserved the color of egg powder. Adding carbohydrate and/or protein caused significant changes in functional properties of egg powder.TUBITAK-TOVAGTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [108 O 541]; Ege Univ., Council of Scientific ResearchEge University [BAP 2008/MUH/012]; Ege Univ., Science and Technology CenterEge University [EBILTEM 09/BIL/014]The authors acknowledge TUBITAK-TOVAG (Project nr 108 O 541), Ege Univ., Council of Scientific Research Projects (Project nr BAP 2008/MUH/012), and Ege Univ., Science and Technology Center (Project nr EBILTEM 09/BIL/014) for financial support. The authors also thank Mix Food Company, Izmir, Turkey, for material support

Physicochemical Characterization of Whole Egg Powder Microencapsulated by Spray Drying

WOS: 000290872900006Physical characterization and oxidative stability of egg powder microencapsulated by spray drying were studied in this work. The wall material (gelatin, lactose, pullulan, and their mixtures) and liquid egg mixtures were prepared by homogenization at 22,000 rpm for 60s. The spray drying was carried out at pilot-scale spray dryer (Niro Mobile Minor, Soborg, Denmark). The spray-dried egg powders were analyzed for moisture content, water activity, peroxide value, total cholesterol oxidation products (TCOPs), particle properties, and bulk properties. Using gelatin as wall material resulted in a significant increase in the moisture content and water activity of egg powder during storage and it improved flowability. Egg powders containing pullulan as wall material showed a fibrous structure and had the lowest bulk density. Adding lactose as wall material increased the oxidative stability, which was indicated with lowest peroxide value and TCOPs level of egg powder.TUBITAK-TOVAGTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [108 O 541]; Ege University, Council of Scientific Research ProjectsEge University [BAP 2008/MUH/012]; Ege University, Science and Technology CenterEge University [EBILTEM 09/BIL/014]The authors acknowledge TUBITAK-TOVAG (Project Number: 108 O 541); Ege University, Council of Scientific Research Projects (Project Number: BAP 2008/MUH/012); and Ege University, Science and Technology Center (Project Number: EBILTEM 09/BIL/014) for financial support. The authors also thank Mix Food Company, Izmir, Turkey, for material support

A rare pediatric case with radiological findings: pelvic cystic schwannoma

Schwannomas are peripheral nerve sheath tumors usually detected in adults which are extremely rare in pediatric population and when present they are commonly associated with Neurofibromatosis type 2. While frequently observed in the head, neck, and extremities, they could be detected anywhere in the body including abdominal cavity. The most common site for intraabdominal schwannomas is stomach and pelvic schwannomas are extremely rare. The imaging characteristics are quite diverse, and they could seldom be pure cystic. Herein, we describe a case in the pediatric age group diagnosed with pelvic cystic schwannoma

Persistent pulmonary mass-like lung consolidations and chest wall extension in a newborn diagnosed with chronic granulomatous disease

[No Abstract Available

Sonography in the Diagnosis of Congenital Adrenal Hyperplasia in a Neonate

Congenital adrenal hyperplasia (CAH) is a relatively rare inherited disease that primarily affects the synthesis of steroid hormones by the adrenal glands. Patients usually present in the weeks following birth with salt wasting and virilization. In patients who are clinically suspected, a definitive diagnosis is established with the detection of increased levels of precursor hormones. An evaluation of the adrenal glands by ultrasonography may help make an accurate diagnosis of CAH prior to a biochemical confirmation. We report the case of a neonate with 21-hydroxylase deficiency who was diagnosed with the typical appearance of the adrenal glands for CAH revealed with ultrasonography