GrimAge Outperforms Other Epigenetic Clocks in the Prediction of Age-Related Clinical Phenotypes and All-Cause Mortality.

The aging process is characterized by the presence of high interindividual variation between individuals of the same chronical age prompting a search for biomarkers that capture this heterogeneity. Epigenetic clocks measure changes in DNA methylation levels at specific CpG sites that are highly correlated with calendar age. The discrepancy resulting from the regression of DNA methylation age on calendar age is hypothesized to represent a measure of biological aging with a positive/negative residual signifying age acceleration (AA)/deceleration, respectively.

Identifying Patients with Rare Disease Using Electronic Health Record Data: The Kaiser Permanente Southern California Membranous Nephropathy Cohort.

Introduction: Developing a reliable means to identify and study real-world populations of patients with membranous nephropathy (MN) using electronic health records (EHRs) would help advance glomerular disease research. Identifying MN cases using EHRs is limited by the need for manual reviews of biopsy reports.

Objective: To evaluate the accuracy of identifying patients with biopsy-proven MN using the EHR in a large, diverse population of an integrated health system.

Investigation of antihypertensive class, dementia, and cognitive decline: A meta-analysis.

Objective: High blood pressure is one of the main modifiable risk factors for dementia. However, there is conflicting evidence regarding the best antihypertensive class for optimizing cognition. Our objective was to determine whether any particular antihypertensive class was associated with a reduced risk of cognitive decline or dementia using comprehensive meta-analysis including reanalysis of original participant data.

Orthostatic Hypotension and Novel Blood Pressure Associated Gene Variants in Older Adults: Data From the TILDA Study.

Orthostatic hypotension (OH) is associated with increased risk of trauma and cardiovascular events. Recent studies have identified new genetic variants that influence orthostatic blood pressure (BP). The aim of this study was to investigate the associations of candidate gene loci with orthostatic BP responses in older adults.

Congophilic Fibrillary Glomerulonephritis: A Case Series.

Rationale & Objective: Congo Red positivity with birefringence under polarized light has traditionally permitted classification of organized glomerular deposits as from amyloid or nonamyloid diseases. The absence of congophilia has been used to differentiate fibrillary glomerulonephritis (GN) from amyloidosis. We describe a series of fibrillary GN cases in which the deposits are Congo Red-positive (congophilic fibrillary GN) and discuss the role of DNAJB9 in distinguishing congophilic fibrillary GN from amyloidosis.

End-Stage Renal Disease and Mortality Outcomes Across Different Glomerulonephropathies in a Large Diverse US Population.

Objective: To compare renal function decline, incident end-stage renal disease (ESRD), and mortality among patients with 5 common glomerular diseases in a large diverse population.

Patients And Methods: A retrospective cohort study (between January 1, 2000, and December 31, 2011) of patients with glomerulonephropathy using the electronic health record of an integrated health system was performed. Estimated glomerular filtration rate (eGFR) change, incident ESRD, and mortality were compared among patients with biopsy-proven focal segmental glomerulosclerosis (FSGS), membranous glomerulonephritis (MN), minimal change disease (MCD), immunoglobulin A nephropathy (IgAN), and lupus nephritis (LN).

The Structure and Composition Statistics of 6A Binary and Ternary Crystalline Materials.

The fundamental principles underlying the arrangement of elements into solid compounds with an enormous variety of crystal structures are still largely unknown. This study presents a general overview of the structure types appearing in an important subset of the solid compounds, i.e.

Secondary Syphilis Associated with Membranous Nephropathy and Acute Hepatitis in a Patient with HIV: A Case Report.

Introduction: We present a case of membranous nephropathy associated with a secondary syphilis infection in a patient with HIV.

Case Presentation: A 37-year-old white man with HIV who was receiving highly active antiretroviral therapy presented to the Emergency Department with 6 weeks of rectal pain. He had a CD3-CD4 count of 656 cells/mm and an undetectable viral load.

Distribution of Biopsy-Proven Presumed Primary Glomerulonephropathies in 2000-2011 Among a Racially and Ethnically Diverse US Population.

Background: The incidence and distribution of primary glomerulonephropathies vary throughout the world and by race and ethnicity. We sought to evaluate the distribution of primary glomerulonephropathies among a large racially and ethnically diverse population of the United States.

Study Design: Case series from January 1, 2000, through December 31, 2011.

Structural stability and electronic properties of sp3 type silicon nanotubes.

A density functional theory study of the structural and electronic properties and relative stability of narrow hydrogen passivated sp(3) silicon nanotubes of different growth orientations is presented. All nanotubes studied and their corresponding wire structures are found to be meta-stable with the wires being more energetically stable. Silicon nanotubes show a dramatic bandgap increase of up to 68% with respect to the corresponding wires.

Systemic mastocytosis presenting with acute oliguric renal failure: report of a case and review of the literature.

A 61-year old African-American woman presented with abdominal pain, tender splenomegaly, anemia, and renal insufficiency. Bone marrow biopsy demonstrated systemic mastocytosis. She was treated with mediator-specific therapy and imatinib, but her renal and hepatic function deteriorated and she required maintenance hemodialysis.

Indinavir-induced nephrolithiasis three and one-half years after cessation of indinavir therapy.

Nephrolithiasis is a known side effect of indinavir sulfate, a protease inhibitor used in the treatment of human immunodeficiency virus (HIV). The duration of its side effects, however, has not been well defined. We present a case where a patient presented with symptomatic indinavir-induced nephrolithiasis 3.

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.

Gene duplication is a major driver of evolutionary divergence. In most vertebrates a single PAX6 gene encodes a transcription factor required for eye, brain, olfactory system, and pancreas development. In zebrafish, following a postulated whole-genome duplication event in an ancestral teleost, duplicates pax6a and pax6b jointly fulfill these roles.

Polyoma virus nephropathy with simian virus 40 antigen-containing tubular basement membrane immune complex deposition.

Polyoma nephropathy is an increasingly prevalent complication in kidney transplant recipients. We identified tubular basement membrane immune complexes in allograft recipients with polyoma nephropathy. To evaluate this lesion, biopsies demonstrating polyoma infection over a 2-year period were assessed for the presence, localization, and composition of tubular basement membrane immune complexes including simian virus 40 (SV40) antigen and for histologic classification according to Drachenberg.

Molecular characterization of human adenomyosis.

Adenomyosis is a common gynaecological disorder characterized by the abnormal growth of endometrium into the myometrium and myometrial hypertrophy/hyperplasia. Uterine fibroids are benign neoplasms of the myometrium, and they represent a diagnostic pitfall for adenomyosis. In this study, we have used the genome-wide Affymetrix U133 Plus 2.

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

Eye development initiates as an evagination of the early neural plate, before the closure of the neural tube. Structural malformations of the eye such as anophthalmia and microphthalmia arise very early in development. It is not surprising therefore that three of the genes currently identified to play a significant role in these developmental eye anomalies are also major players in brain development and regionalization.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C.

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Purpose: Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.

Methods: We examined high-resolution MRI scans in four patients with SOX2 mutations, two of whom had seizures.

Diagnosis of meningioma by time-resolved fluorescence spectroscopy.

We investigate the use of time-resolved laser-induced fluorescence spectroscopy (TR-LIFS) as an adjunctive tool for the intraoperative rapid evaluation of tumor specimens and delineation of tumor from surrounding normal tissue. Tissue autofluorescence is induced with a pulsed nitrogen laser (337 nm, 1.2 ns) and the intensity decay profiles are recorded in the 370 to 500 nm spectral range with a fast digitizer (0.

Effects of RNA degradation on gene expression analysis of human postmortem tissues.

The Affymetrix GeneChip platform was used to build a gene expression database of the normal human body. Postmortem human tissues represent a valuable source of biological materials for this type of study, but their use entails some delays before harvesting such tissues. We first evaluated the RNA quality obtained from tissues obtained 3-5 h postmortem and found variations that were both tissue and donor-dependent.