A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy.

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Cilia are evolutionarily conserved microtubule-based organelles that are crucial for diverse biological functions, including motility, cell signaling and sensory perception. In humans, alterations in the formation and function of cilia manifest clinically as ciliopathies, a growing class of pleiotropic genetic disorders. Despite the substantial progress that has been made in identifying genes that cause ciliopathies, therapies for these disorders are not yet available to patients.

Germline transgenesis and insertional mutagenesis in Schistosoma mansoni mediated by murine leukemia virus.

Functional studies will facilitate characterization of role and essentiality of newly available genome sequences of the human schistosomes, Schistosoma mansoni, S. japonicum and S. haematobium.

A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy.

We report on a 12-year-old female patient with lipoprotein glomerulopathy (LPG) who was proven to be heterozygous for ApoE2 Kyoto (Arg25Cys). Her family members have the same variant but do not have obvious signs of renal function impairment. Six months of treatment with a statin caused significant clinical improvement in the lipid profile, proteinuria, and renal function.

Crystal structure of the Sema-PSI extracellular domain of human RON receptor tyrosine kinase.

Human RON (Recepteur d'Origine Nantais) receptor tyrosine kinase is a cell surface receptor for Macrophage Stimulating Protein (MSP). RON mediates signal transduction pathways that regulate cell adhesion, invasion, motility and apoptosis processes. Elevated levels of RON and its alternatively spliced variants are implicated in the progression and metastasis of tumor cells.

Levels and values of circulating endothelial progenitor cells, soluble angiogenic factors, and mononuclear cell apoptosis in liver cirrhosis patients.

Background: The roles of circulating endothelial progenitor cell (EPC) and mononuclear cell apoptosis (MCA) in liver cirrhosis (LC) patients are unknown. Moreover, vascular endothelial growth factor (VEGF) and stromal cell-derived factor (SDF)-1α are powerful endogenous substances enhancing EPC migration into circulation. We assessed the level and function of EPCs [CD31/CD34 (E(1)), KDR/CD34 (E(2)), CXCR4/CD34 (E(3))], levels of MCA, VEGF and SDF-1α in circulation of LC patients.

Conversion from mouse embryonic to extra-embryonic endoderm stem cells reveals distinct differentiation capacities of pluripotent stem cell states.

The inner cell mass of the mouse pre-implantation blastocyst comprises epiblast progenitor and primitive endoderm cells of which cognate embryonic (mESCs) or extra-embryonic (XEN) stem cell lines can be derived. Importantly, each stem cell type retains the defining properties and lineage restriction of their in vivo tissue of origin. Recently, we demonstrated that XEN-like cells arise within mESC cultures.

Advanced age affects the outcome-predictive power of RIFLE classification in geriatric patients with acute kidney injury.

The RIFLE (risk, injury, failure, loss, and end-stage) classification is widely used to gauge the severity of acute kidney injury, but its efficacy has not been formally tested in geriatric patients. To correct this we conducted a prospective observational study in a multicenter cohort of 3931 elderly patients (65 years of age or older) who developed acute kidney injury in accordance with the RIFLE creatinine criteria after major surgery. We studied the predictive power of the RIFLE classification for in-hospital mortality and investigated the potential interaction between age and RIFLE classification.

A comparison of herpes zoster incidence across the spectrum of chronic kidney disease, dialysis and transplantation.

Background: The effect of different renal replacement therapies on the risk of developing herpes zoster in renal failure patients is unknown. We aimed to investigate the incidence of herpes zoster attack among renal failure patients who were receiving different dialysis modalities, renal transplantation (RT), or not receiving any of the above mentioned therapies yet.

Methods: A retrospective cohort study of the national health insurance register database was conducted.

A post-assembly genome-improvement toolkit (PAGIT) to obtain annotated genomes from contigs.

Genome projects now produce draft assemblies within weeks owing to advanced high-throughput sequencing technologies. For milestone projects such as Escherichia coli or Homo sapiens, teams of scientists were employed to manually curate and finish these genomes to a high standard. Nowadays, this is not feasible for most projects, and the quality of genomes is generally of a much lower standard.

Glycan structures and intrageneric variations of venom acidic phospholipases A(2) from Tropidolaemus pitvipers.

Most of the phospholipases A(2) (PLA(2) ; EC3.1.1.

Secondary metabolites from the root of Ehretia longiflora and their biological activities.

Bioassay-guided fractionation of the methanolic extract of the root of Ehretia longiflora (Boraginaceae) afforded eight compounds, ehretiquinone (1), ehretiolide (2), ehreticoumarin (3), ehretilactone A (4), ehretilactone B (5), ehretiamide (6), ehretine (7), and ehretiate (8), together with 12 known compounds (9-20). The relative configuration of 1 was determined by single crystal X-ray diffraction. Among the isolates, 1 and prenylhydroquinone (14) showed antitubercular activity against Mycobacterium tuberculosis strain H37Rv with MIC values of 25.

A simplified approach to assessing penile endothelial function in young individuals at risk of erectile dysfunction.

Erectile dysfunction (ED) reflects a risk for systemic cardiovascular diseases by virtue of a common etiology of vascular endothelial dysfunction, which is increasingly reported to affect young adults. On the basis of physiological phenomenon of reactive hyperemia (RH), systemic and penile endothelial functions in healthy young adults were compared with the use of digital data on arterial waveforms before and after RH induction. Between July 2009 and March 2011, 32 young adult volunteers with normal erectile functions were recruited.

Cloning and expression of pathogenesis-related protein 4 from jelly fig (Ficus awkeotsang Makino) achenes associated with ribonuclease, chitinase and anti-fungal activities.

A cDNA fragment (FaPR4) encoding a class I pathogenesis-related protein 4 (PR-4) from Ficus awkeotsang was obtained by PCR cloning. Plant PR-4s were grouped into class I and II, differing by the presence of ChtBD and hinge. The predicted mature FaPR4 comprises N-terminal chitin-binding domain (ChtBD), hinge, Barwin domain and C-terminal extension.

CLEC5A regulates Japanese encephalitis virus-induced neuroinflammation and lethality.

CLEC5A/MDL-1, a member of the myeloid C-type lectin family expressed on macrophages and neutrophils, is critical for dengue virus (DV)-induced hemorrhagic fever and shock syndrome in Stat1⁻/⁻ mice and ConA-treated wild type mice. However, whether CLEC5A is involved in the pathogenesis of viral encephalitis has not yet been investigated. To investigate the role of CLEC5A to regulate JEV-induced neuroinflammation, antagonistic anti-CLEC5A mAb and CLEC5A-deficient mice were generated.

Left ventricular myocardium segmentation on delayed phase of multi-detector row computed tomography.

Rationale And Objectives: Advanced ischemic heart disease is usually accompanied by left ventricular (LV) myocardial volume loss and an abnormal enhancing pattern on delayed phase of multi-detector row computed tomography (MDCT). To assist radiologists and physicians in estimating the LV myocardial volume on delayed phase, this paper proposes an adaptive segmentation method for contouring the myocardial region in the delayed-phase MDCT and for computing the volume.

Materials And Methods: The proposed method uses an anisotropic diffusion filter as a preprocessing procedure to enhance contrast and reduce specks in MDCT imaging.

The first green revolution.

This month's Genome Watch describes how analysis of a basal member of the Plantae can inform us about the evolution of photosynthetic eukaryotes.

Coronary artery calcification in kidney transplant recipients with long-term follow-up.

Objectives: Kidney transplantation (KT) is associated with increased incidence of hypertension, hyperlipidemia, metabolic syndrome, and posttransplant diabetes mellitus that promote the development of coronary artery calcification (CAC). The aim of the current study was to elucidate the extent of CAC and its risk factors among KT patients.

Methods: A cross-sectional study was performed to evaluate the severity of CAC in our KT patients.

Serum adiponectin levels in renal transplant recipients with and without metabolic syndrome.

Objectives: Adiponectin (APN) is an adipocyte-derived protein that has anti-inflammatory, anti-atherogenic, and insulin-sensitizing effects. Lower serum APN level is associated with various inflammatory and metabolic diseases in the general population. Kidney transplant (KT) recipients are at higher risk for developing several metabolic disorders, including metabolic syndrome (MS).

Unsteady relativistic shock-wave diffraction by cylinders and spheres.

The unsteady relativistic shock-wave diffraction patterns generated by a relativistic blast wave impinging on a circular cylinder and a sphere are numerically simulated using some high-resolution relativistic kinetic beam schemes in a general coordinate system for solving the relativistic Euler equations of gas dynamics. The diffraction patterns are followed through about 6 radii of travel of the incident shock past the body. The complete diffraction patterns, including regular reflection, transition from regular to Mach reflection, slip lines, and the complex shock-on-shock interaction at the wake region resulting from the Mach shocks collision behind the body are reported in detail.

Effect of diuretic use on 30-day postdialysis mortality in critically ill patients receiving acute dialysis.

Background: The impact of diuretic usage and dosage on the mortality of critically ill patients with acute kidney injury is still unclear.

Methods And Results: In this prospective, multicenter, observational study, 572 patients with postsurgical acute kidney injury receiving hemodialysis were recruited and followed daily. Thirty-day postdialysis mortality was analyzed using Cox's proportional hazards model with time-dependent covariates.

Delayed presentation of hypovolemic shock after a simple pubic ramus fracture.

Although trauma-induced simple pubic ramus fracture is common in the emergency department (ED), it can result in life-threatening hemorrhagic shock. We describe a 58-year-old woman with closed minimally displaced simple pubic ramus fracture. Hemodynamic instability became apparent 2 hours later.

A novel heparin-dependent inhibitor of activated protein C that potentiates consumptive coagulopathy in Russell's viper envenomation.

The activation of coagulation factors V and X by Russell's viper venom (RVV) has been implicated in the development of consumptive coagulopathies in severely envenomed patients. However, factor Va is prone to inactivation by activated protein C (APC), an important serine protease that negatively regulates blood coagulation. It is therefore hypothesized that APC may be down-regulated by some of the venom components.

Associations of the pre-pregnancy body mass index and gestational weight gain with pregnancy outcomes in Taiwanese women.

Background: Pre-pregnancy weight and gestational weight gain (GWG) are important factors in both maternal and infant outcomes. Little information is available in relation to different levels of pre-pregnancy body mass index (BMI) and body weight gain on obstetric outcomes in Taiwan. This study investigated the associations between pregnancy complications with pre-pregnant BMI and GWG, in Taiwanese women.

Brain-derived neurotrophic factor not associated with metabolic syndrome but inversely correlated with vascular cell adhesion molecule-1 in men without diabetes.

Background: Excessive visceral fat with unbalanced adipokines is a critical pathogenic factor of metabolic syndrome (MetS), which is associated with disorders of the central nervous system and cardiovascular disease. Because brain-derived neurotrophic factor (BDNF) plays an important role in neurons, we examined the relationship of BDNF to MetS, adipose tissue and biomarkers in men.

Methods: Thirty-four non-diabetic men with MetS and another 24 age-matched men without MetS were enrolled.