KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome.

MDR1 polymorphisms and idiopathic nephrotic syndrome in Slovak children: preliminary results.

Background: The role of the multidrug resistance-1 (MDR1 or ABCB1) gene polymorphisms 1236T>C, 2677T>G, and 3435T>C was studied in relation to susceptibility, demographics, and pathological characteristics, as well as their role in the therapeutic response (TR) to prednisone treatment in children with idiopathic nephrotic syndrome (INS).

Material/methods: The polymorphisms were analyzed using the polymerase chain reaction-restriction fragment length polymorphism method in 46 children with INS and in 100 healthy controls. Different genetic models (codominant, dominant, recessive, and overdominant) were used for testing of associations between polymorphisms and phenotypes.

Correlation between antibodies and histology in celiac disease: incidence of celiac disease is higher than expected in the pediatric population.

The present study aims to report on the correlation between the degree of negativity of anti-endomysial antibodies and anti-tissue transglutaminase antibodies in the IgA and IgG classes with regard to histological grade, in 44 newly diagnosed children with celiac disease (CD). Samples with negative antibodies, but a positive histology from a 5-year program searching for CD in the pediatric population were collected. A total of 4247 biopsy samples were used in this study.

Reduced inflammation accompanies diminished myelin damage and repair in the NG2 null mouse spinal cord.

Background: Multiple sclerosis (MS) is a demyelinating disease in which blood-derived immune cells and activated microglia damage myelin in the central nervous system. While oligodendrocyte progenitor cells (OPCs) are essential for generating oligodendrocytes for myelin repair, other cell types also participate in the damage and repair processes. The NG2 proteoglycan is expressed by OPCs, pericytes, and macrophages/microglia.

Surgical management of bronchopulmonary carcinoid tumors: experience over 8 years and review of the literature.

Aims And Background: An increased incidence of neuroendocrine tumors in the last decade has been noticed worldwide. Our purpose was to study the characteristics, surgical approaches and outcome in patients with primary bronchopulmonary carcinoid tumors.

Methods: Between 2001 and 2007, bronchopulmonary carcinoid tumors were removed in 11 of a total of 287 patients who underwent surgery for primary lung malignancies in our tertiary referral center.

An unusual coincidence of multiple synchronous kidney tumors with a metachronous rectal adenocarcinoma.

In synchronous surgery specimens (right-sided nephrectomy and left-sided partial nephrectomy), a unique combination of a papillary (chromophil) renal cell carcinoma (4 x 3.7 x 3.5 cm) and a renal oncocytoma (11 x 10 x 9 mm) in the right kidney and a renal carcinoid (2.

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly-inherited cancer predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and ovary is linked to germline mutations in DNA mismatch repair (MMR) genes. We have recently initiated a cancer prevention program in suspected HNPCC families in the Slovak Republic. The first ten families fulfilling Amsterdam criteria or Bethesda guidelines were screened for germline mutations in MLH1 and MSH2, two MMR genes most frequently mutated in HNPCC families.