Could mesangial C3 deposition be an independent prognostic marker in immunoglobulin A nephropathy?

Background: Immunoglobulin A nephropathy (IgAN) is a common primary glomerulonephropathy. There is evidence that mesangial C3 deposition plays a role in the development of the disease. The aim of this study was to examine the effect of C3 deposition on the prognosis of IgAN patients.

Staphylococcus aureus Bacteriophage 52 Endolysin Exhibits Anti-Biofilm and Broad Antibacterial Activity Against Gram-Positive Bacteria.

Bacteriophage endolysins have been shown to hold great promise as new antibacterial agents for animal and human health in food preservation. In the present study, endolysin from Staphylococcus aureus subsp. aureus ATCC 27692-B1 bacteriophage 52 (LysSA52) was cloned, expressed, and characterized for its antimicrobial properties.

Integrative epigenomic and functional characterization assay based annotation of regulatory activity across diverse human cell types.

We introduce ChromActivity, a computational framework for predicting and annotating regulatory activity across the genome through integration of multiple epigenomic maps and various functional characterization datasets. ChromActivity generates genomewide predictions of regulatory activity associated with each functional characterization dataset across many cell types based on available epigenomic data. It then for each cell type produces (1) ChromScoreHMM genome annotations based on the combinatorial and spatial patterns within these predictions and (2) ChromScore tracks of overall predicted regulatory activity.

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development.

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Background: Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases.

Demographic, clinical and laboratory characteristics of rapidly progressive glomerulonephritis in Turkey: Turkish Society of Nephrology-Glomerular Diseases (TSN-GOLD) Working Group.

Background: In our study, diagnostic and demographic characteristics of patients diagnosed with RPGN by biopsy, clinical and laboratory findings in our country were investigated.

Methods: Data were obtained from the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) Working Group database. Demographic characteristics, indications for biopsy, diagnosis of the glomerular diseases, comorbidities, laboratory and biopsy findings of all patients were recorded.

Photodynamic therapy effect of morpholinium containing silicon (IV) phthalocyanine on HCT-116 cells.

In this study, we investigated the in vitro potential of axially 1-morpholiniumpropan-2-ol disubstituted silicon (IV) phthalocyanine (SiPc) which was synthesized previously, on HCT-116 cells as a photodynamic therapy (PDT) agent. The singlet oxygen and photodegradation quantum yields of SiPc were calculated using UV-vis spectrophotometer. The cytotoxic and phototoxic effects of SiPc were evaluated by 3-[4,5-dimethylthiazol-2-yl]-2,5 diphenyl tetrazolium bromide (MTT) assay.

RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells.

Receptor-interacting serine/threonine kinase 4 (RIPK4) and transforming growth factor-β 1 (TGF-β1) play critical roles in the development and maintenance of the epidermis. A negative correlation between the expression patterns of RIPK4 and TGF-β signaling during epidermal homeostasis-related events and suppression of RIPK4 expression by TGF-β1 in keratinocyte cell lines suggest the presence of a negative regulatory loop between the two factors. So far, RIPK4 has been shown to regulate nuclear factor-κB (NF-κB), protein kinase C (PKC), wingless-type MMTV integration site family (Wnt), and (mitogen-activated protein kinase) MAPK signaling pathways.

Keratin 14 is a novel interaction partner of keratinocyte differentiation regulator: receptor-interacting protein kinase 4.

The epidermis, the outer layer of the skin, is formed by stratified keratinocyte layers. The self-renewal of the epidermis is provided by sustained proliferation and differentiation of the keratinocyte stem cells localized to the basal layer of the epidermis. Receptor-interacting protein kinase 4 (RIPK4) is an important regulator of keratinocyte differentiation, mutations of which are associated with congenital ectodermal malformations.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.

Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings.

A large dataset of protein dynamics in the mammalian heart proteome.

Protein stability is a major regulatory principle of protein function and cellular homeostasis. Despite limited understanding on mechanisms, disruption of protein turnover is widely implicated in diverse pathologies from heart failure to neurodegenerations. Information on global protein dynamics therefore has the potential to expand the depth and scope of disease phenotyping and therapeutic strategies.

Spatial and temporal dynamics of the cardiac mitochondrial proteome.

Mitochondrial proteins alter in their composition and quantity drastically through time and space in correspondence to changing energy demands and cellular signaling events. The integrity and permutations of this dynamism are increasingly recognized to impact the functions of the cardiac proteome in health and disease. This article provides an overview on recent advances in defining the spatial and temporal dynamics of mitochondrial proteins in the heart.

High-throughput and label-free single nanoparticle sizing based on time-resolved on-chip microscopy.

Sizing individual nanoparticles and dispersions of nanoparticles provides invaluable information in applications such as nanomaterial synthesis, air and water quality monitoring, virology, and medical diagnostics. Several conventional nanoparticle sizing approaches exist; however, there remains a lack of high-throughput approaches that are suitable for low-resource and field settings, i.e.

Sonocrystallisation of lactose in concentrated whey.

Whey concentrated to 32% lactose was sonicated at 30°C in a non-contact approach at flow rates of up to 12L/min. Applied energy density varied from 3 to 16J/mL at a frequency of 20kHz. Sonication of whey initiated the rapid formation of a large number of lactose crystals in response to acoustic cavitation which increased the rate of crystallisation.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Aim: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.

Methods: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question.

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. Approximately 95% of all CAH are caused by mutations of the CYP21A2 that encodes 21-hydroxylase. In this study, mutation analyses of CYP21A2 were performed in 48 CAH patients from 45 Turkish families with the clinical diagnosis of 21-hydroxylase deficiency (21OHD).

Ruptured aneurysm of noncoronary sinus of Valsalva: demonstration with magnetic resonance imaging.

There are few published reports regarding imaging findings of sinus of Valsalva aneurysms (SVA) with magnetic resonance imaging (MRI). We present an unusual form of ruptured SVA, emphasizing the diagnostic importance of MRI among a range of imaging techniques. This case report describes a case of idiopathic (thought to be congenital in origin), acutely symptomatic ruptured noncoronary SVA diagnosed by MRI and confirmed with conventional angiography and surgery.

Chemical composition and biometrical measurements of the Turkish sea urchin (Paracentrotus Lividus, Lamarck, 1816).

We determined the monthly percentage values of biochemical components in paracentrotus lividus, for a 6-month period, and evaluated the findings in relation to seasonal fluctuations in water temperature and weather. Our study is the first to present a long-term biochemical profile of p. lividus in Turkey.

Effects of gutting and ungutting on microbiological, chemical, and sensory properties of aquacultured sea bream (Sparus aurata) and sea bass (Dicentrarchus labrax) stored in ice.

The effect of gutting and ungutting on microbiological, chemical, and sensory properties of aqua-cultured sea bream (Sparus aurata) and sea bass (Dicentrarchus labrax) stored in ice were studied. The total viable mesophilic and psychrophilic bacterial counts increased throughout the storage period of gutted and ungutted sea bream and sea bass. The mesophilic counts reached 8.

Effects of using slurry ice during transportation on the microbiological, chemical, and sensory assessments of aquacultured sea bass (Dicentrarchus labrax) stored at 4 degrees C.

Slurry ice, a biphasic system consisting of small spherical ice crystals surrounded by seawater at subzero temperature, was evaluated as a new chilled storage method for whole sea bass (Dicentrarchus labrax) a sparidae fish species of remarkable commercial interests. In this study two different group of chilling methods were used during transportation; in slurry ice packaged (Group A), and flake ice packaged (Group B). The effect of this advanced system during transportation on quality losses and the shelf life of aquacultured sea bass was evaluated.