Long-term immunogenicity and safety of the hepatitis B vaccine HepB-CpG (HEPLISAV-B) compared with HepB-Eng (Engerix-B) in adults with chronic kidney disease.

Background: Hepatitis B virus (HBV) infection remains a significant global burden, especially for patients with chronic kidney disease (CKD) receiving hemodialysis. Three doses of HepB-CpG (HEPLISAV-B® vaccine) induced a superior immune response compared with 4 double doses of HepB-Eng (Engerix-B®) in a phase 3 trial (HBV-17) in adults with CKD. Here we report the long-term immunogenicity and safety of HepB-CpG and HepB-Eng in eligible participants of HBV-17 who enrolled in this optional 34-month follow-up trial (HBV-19).

Application of full-genome analysis to diagnose rare monogenic disorders.

Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA's utility for diagnosis of rare diseases in a clinical setting.

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to structural variation in the general population as well as genomic disorders associated with multiple congenital anomalies, including the 7q11.23 (Williams-Beuren Syndrome, WBS), 15q13.

Towards a reference genome that captures global genetic diversity.

The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. Here, we analyze 338 high-quality human assemblies of genetically divergent human populations to identify missing sequences in the human reference genome with breakpoint resolution. We identify 127,727 recurrent non-reference unique insertions spanning 18,048,877 bp, some of which disrupt exons and known regulatory elements.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome (22q11DS). However, LCR22s are among the most complex regions in the genome, and their structure remains unresolved.

High proportion of immature oocytes in a cohort reduces fertilization, embryo development, pregnancy and live birth rates following ICSI.

Research Question: Ooplasmic maturity has been studied for some time, but remains poorly defined. This study aimed to evaluate metaphase II (MII) oocyte competence in terms of fertilization, embryo development and cycle outcomes, according to the oocyte maturity ratio.

Design: Couples treated by intracytoplasmic sperm injection (ICSI) between 1993 and 2017 with female partners ≤35 years old were included.

Forty years of IVF.

This monograph, written by the pioneers of IVF and reproductive medicine, celebrates the history, achievements, and medical advancements made over the last 40 years in this rapidly growing field.

Optimizing the first-line fertility treatment.

The objective of this study was to identify sperm score thresholds to achieve satisfactory intrauterine insemination (IUI) success rates according to the response to stimulation with clomiphene citrate (CC). To minimize the confounding effect of female age, we included only CC/IUI cycles of women ≤35 years old. A total of 1,194 CC/IUI cycles were included.

A critical role for the putative NCS2 nucleobase permease YjcD in the sensitivity of Escherichia coli to cytotoxic and mutagenic purine analogs.

Unlabelled: The base analogs 6-N-hydroxylaminopurine (HAP) and 2-amino-HAP (AHAP) are potent mutagens in bacteria and eukaryotic organisms. Previously, we demonstrated that a defect in the Escherichia coli ycbX gene, encoding a molybdenum cofactor-dependent oxidoreductase, dramatically enhances sensitivity to the toxic and mutagenic action of these agents. In the present study, we describe the discovery and properties of a novel suppressor locus, yjcD, that strongly reduces the HAP sensitivity of the ycbX strain.

Anterior shoulder dislocation increases the propensity for recurrence: a cadaveric study of the number of dislocations and type of capsulolabral lesion.

Background: The number of anterior shoulder dislocations that predispose to recurrence is unknown; some clinicians recommend surgical repair after the initial episode and others after multiple recurrences. The purpose of this study was to quantify the forces during successive anterior dislocations of cadaveric shoulders and to inspect the capsule and labrum afterwards, in order to assess the propensity for recurrence.

Materials And Methods: Twenty-two human cadaveric shoulders were tested using a custom cadaveric shoulder dislocation device with simulated muscle loading.

Peritoneal dialysis in the nursing home.

Unlabelled: The mean age of patients with end-stage renal disease increases steadily. The elderly on dialysis have significant comorbidity and require extra attention to meet their dialysis, dietary, and social needs, and some may need to be treated at a long-term care facility such as a nursing home (NH). Providing dialysis and caring for elderly patients in a nursing home (NH) presents a number of challenges.

Improvement in eGFR in patients with chronic kidney disease attending a nephrology clinic.

Background: The adverse effects arising from late referral to a nephrologist of patients with chronic kidney disease (CKD) are well known. Retrospectively we examined the initial characteristics of patients referred in various stages of CKD to our nephrology division and tried to identify potential baseline factors associated with subsequent changes in estimated glomerular filtration rate (eGFR).

Patients And Methods: Between September 1997 and June 2006 1,443 patients (909 male, 534 female) with CKD, with eGFRs ranging from 15 to 89 ml/min, were referred to our nephrology division and categorized using the National Kidney Foundation classification for CKD based on eGFR.

Histiocytoid neutrophilic dermatoses and panniculitides: variations on a theme.

Requena et al, in their article titled "Histiocytoid Sweet syndrome," in 2005, established that the dermal infiltrate in some patients with Sweet's syndrome is composed of histiocyte-like immature myeloid cells, not polymorphonuclear leukocytes as is the norm. With this premise in mind, we report on 6 cases of inflammatory skin disease in which the common denominator was a dermal and/or subcutaneous infiltrate of histiocytoid myeloid cells in patients with new-onset cutaneous eruptions and systemic symptoms. The cases were diverse clinically and microscopically, fell short of the criteria necessary for a diagnosis of classical Sweet's syndrome, and were difficult to categorize at the outset.

Results of meniscal repair using a bioabsorbable screw.

Purpose: With most all-inside arthroscopic meniscal repair devices, the surgeon has no need for additional incisions or arthroscopic knot tying, and surgical time is decreased compared with traditional suture repair. Although previous studies have examined the pullout strength of various all-inside devices, clinical data is lacking and has been presented for only a few implants. This study evaluates the clinical results of meniscal repair using a bioabsorbable screw.

A novel cadaveric model for anterior-inferior shoulder dislocation using forcible apprehension positioning.

A novel cadaveric model for anterior-inferior shoulder dislocation using forcible apprehension positioning is presented. This model simulates an in vivo mechanism and yields capsulolabral lesions. The scapulae of 14 cadaveric entire upper limbs (82 +/- 9 years, mean +/- standard deviation) were each rigidly fixed to a custom shoulder-testing device.