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.

Primary obstructed megaureter (POM) in children.

Unlabelled: The aim of this study was to analyze the results of surgical and conservative treatment of non-refluxing POM. In the period 2000-2009, 45 children (52 ureters) were treated, the average age was 5.8 months (±10.

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.

Prolonged treatment of chronic renal insufficiency, acquired cystic kidney disease, simultaneous precancerous lesions and multiple tumors of left kidney.

Purpose Of The Investigation: Description of precancerous lesions and kidney tumors developing in a patient with chronic uremia treated by long-term hemodialysis.

Most Important Methods: Light microscopy, polarization and immunohistochemistry with CK1/CK3, CK5/6, CK7, CK8, CK20, EMA, Renal cell, CD10, Ki-67, PCNA, p53 and E-cadherin antibodies were used.

Main Findings: After 11 years of hemodialysis treatment of end-stage diabetic nephropathy and chronic tubulointerstitial nephritis an urgent left-sided nephrectomy was performed because of pain and massive intrarenal bleeding.

[Caspase 1, superoxide dismutase (D-mutase) and calretinin expression in the placenta and in the basal decidua in preeclampsia].

Objective: To determine new data related to the expression of caspase 1, superoxiddismutase and calretinin in the placenta and basal decidua in preeclampsia.

Material And Methods: Placental and basal decidua samples from 9 preeclamptic and 9 normotensive controls were analyzed using expressions of caspase 1, superoxiddismutase and calretinin assessed by immunohistochemistry.

Results: Caspase 1 was expressed in placental syncythium in preeclampsia constantly, while in the control group the expression was weak or absent.

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.

Immunohistochemical markers of proliferation and vascularisation in preneoplastic bronchial lesions and invasive non-small cell lung cancer.

Autofluorescence bronchoscopy (AFB) has been shown to be sensitive to detect preneoplastic lesions in central lung airways system. In early stages of carcinogenesis, up-regulation of cyclooxygenase (COX)-2, Ki67 and/or increased angiogenesis may play a role by promoting the proliferation of tumoral cells and their resistance to apoptosis, as well as angiogenesis, tumor cell invasion and setting up of the metastatic process. The present study compared the expression of proliferative (COX-2, Ki67 and PCNA) and angiogenic markers (CD34 and NG2) between preneoplastic bronchial squamous dysplasia lesions and invasive squamous cell carcinoma.

[Giant solitary fibrous tumor of the pleura--case report].

Solitary fibrous tumors of the pleura are rare malignant pathological findings, accounting for only 5% of all pleural neoplasms. Clinical manifestations are very unspecific and over 50% of the cases are asymptomatic. The commonest clinical symptoms include cough, pains, dyspnoea, fever and weight loss.

[Cyclosporin A versus cyclophosphamide in the treatment of nephrotic syndrome in children].

Background: The majority of cases of nephrotic syndrome in children is corticosensitive, however in some individuals aggressive cytotoxic therapy is necessary. Cyclosporin A and cyclophosphamide are widely used; however their relative effectiveness in maintaining remission of childhood nephrotic syndrome remains controversial.

Methods And Results: Effectiveness of long-term cytotoxic therapy (mean follow-up 7.

Endobronchial actinomycosis presenting as haemoptysis.

Actinomycosis is an infrequent chronic progressive granulomatous and suppurative disease caused by Actinomyces israelii, a natural inhabitant of the gastrointestinal tract. We report a rare case of a 68-year-old man with primary endobronchial actinomycosis who presented in the emergency respiratory ward with massive hemoptysis and dyspnea. An urgent fiberoptic bronchoscopy revealed hypertrophic mucosa and a narrowed lingular bronchus with a pale extruding exophyt.

Severe limb necrosis: primary thrombotic microangiopathy or "seronegative" catastrophic antiphospholipid syndrome? A diagnostic dilemma.

An episode of gastroenteritis triggered severe necrosis of all extremities in a previously asymptomatic male. Hepatic and renal involvement were also manifest, while the hematological picture was one of thrombotic microangiopathic hemolytic anemia. Antiphospholipid antibodies were negative.

Expression of the multidrug resistance-associated protein 1 (MRP1) and the lung resistance-related protein (LRP) in human lung cancer.

Fifty lung cancer samples (41 non-small cell lung cancer-NSCLC and 9 small cell lung cancer-SCLC) were immunohistochemically analyzed for lung resistance-related protein (LRP) and multidrug resistance-associated protein 1 (MRP1) expressions which were then correlated with histopathological subtype of the tumor. To detect these proteins, monoclonal antibodies LRP-56 and MRPm6 were used. NSCLC samples were divided into two groups, adenocarcinomas (17 samples) and squamous cell carcinomas (24 samples).

Immunohistochemical study of melanocytic differentiation antigens in cutaneous malignant melanoma. A comparison of six commercial antibodies and one non-commercial antibody in nodular melanoma, superficially spreading melanoma and lentigo maligna melanoma.

In certain primary and metastatic malignant melanomas diagnostic problems may arise due to their cytologic features and/or absence of synthesis of melanin. As the "classic" combination of S-100 protein and HMB-45 may occasionally fail to stain cells of malignant melanoma, we have tested a series of commercially accessible antibodies which were so far not compared by other authors in the three most frequent subtypes of this tumor. In surgical specimens from 104 cutaneous malignant melanomas (40 nodular melanomas, 46 superficially spreading malignant melanomas and 18 lentigo maligna melanomas) the staining intensity and the proportion of neoplastic cells stained with antibodies to S-100 protein, HMB-45, NKI/C3, NKI/beteb, MART 1 (Melan A), KBA 62 and Mitf was semiquantitatively analysed.

Epithelioid haemangiosarcoma of the thyroid gland. Report of six cases from a non-Alpine region.

Aim: To report a series of six cases of thyroid haemangiosarcoma (HAS) from a non-Alpine region.

Methods And Results: The patients were four females and two males, aged 54-81 years (average 68 years). The tumours presented as large haemorrhagic masses (diameter 40-70 mm, average 56 mm) with extensive necrosis.

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.

Expression of LRP--lung resistance-related protein in the normal colorectal mucosa and in colorectal carcinoma.

Expression of LRP--lung resistance-related protein was analyzed by immunohistochemical staining with monoclonal antibody LRP-56 in 30 specimens (10 from normal colorectal tissue and 20 from colorectal carcinoma). All normal tissue samples were LRP positive. Strong LRP staining was seen in the surface epithelium and upper parts of the crypts.

[Mediastinal cysts].

Mediastinal cysts, described also as homoplastic dysembryomas, account for 20% of mediastinal lesions. There are bronchogenic, oesophageal, gastrogenic and enterogenic, pericardial, non-specific cysts and cystic lymphangiomas. The authors present 6 patients with mediastinal cysts from a total number of 96 patients with mediastinal tumours subjected to surgery during a 14-year period (from Jan.

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.

[Diagnosis and therapy of ethylene glycol poisoning--analysis of 20 patients].

The paper presents a retrospective analysis of 20 patients with acute ethylene glycol intoxication who were treated from 1972 to 2001 in the Dialysis Centre of the IVth Medical Clinic and from 1997 at the L. Pasteur Nephrological Clinic of the Faculty Hospital and Safarík Medical Faculty in Kosice. The ethylene glycol intoxication was manifested by neurological symptoms, extreme metabolic acidosis, acute toxic hepatitis and acute renal failure.

[Fallopian tube torsion in appendicitis--case report].

The authors report a rare clinical case of coincidence appendicitis and Fallopian tube torsion. A 14-years-old girl is presented with acute pelvic pain, dysuria and diarrhoea. Acute appendicitis and right side Fallopian tube torsion were detected by laparotomy.

Collagenous spherulosis in epithelial-myoepithelial carcinoma of the parotid gland. Histological and immunohistological study of a case.

Previously unreported histological and immunohistochemical features of collagenous spherulosis in an epithelial-myoepithelial carcinoma found in an 80-year-old woman are described. The multinodular tumor located in the right parotid gland was completely removed surgically. No local recurrence of the tumor appeared during the 22-month period of periodic checkups.