No association between telomere length and blood cell counts in elderly individuals.

Background: Telomeres play a crucial role in maintaining the physical integrity of chromosomes. Telomere length (TL) is severely reduced in individuals with dyskeratosis congenita and a number of other bone marrow failure syndromes. The TL of healthy individuals is highly variable, but shortens with age.

Hb Montreal II: a novel elongated beta-globin variant caused by a frameshift mutation [beta142 (-C)].

We report a novel elongated C-terminal beta hemoglobin (Hb) variant caused by a single nucleotide (C) deletion at codon 143 (nucleotide 480 of GenBank entry NM_000518). This deletion leads to the substitution of histidine 143 by threonine, and displaces the beta Hb gene stop codon from codon 147 to codon 157. It was identified in a 30-year-old man from Montreal, and called Hb Montreal II.

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.

Skewing of X chromosome inactivation (XCI) can occur in normal females and increases in tissues with age. The mechanisms underlying skewing in normal females, however, remain controversial. To better understand the phenomenon of XCI in nondisease states, we evaluated XCI patterns in epithelial and hematopoietic cells of over 500 healthy female mother-neonate pairs.

Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus.

The X;Y translocation break point sequence in an XX male patient with prepubertal systemic lupus erythematosus (SLE) was characterized with the intention of identifying a predisposing gene(s) for SLE. Spectral karyotyping of the patient's metaphase chromosomes showed normal autosomes and 2 X chromosomes, one of which displayed a small portion of the Y chromosome. Using a Y chromosome polymerase chain reaction (PCR) walking strategy and inverse PCR, we found that the abnormal recombination occurred between retroviral long terminal repeats located at Xp22.

X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.

The JAK2V617F mutation is present in most patients with polycythemia vera (PV) and in some patients with essential thrombocythemia (ET) and myeloid metaplasia/myelofibrosis (MMM). We sought to investigate the relationship between granulocyte clonality and JAK2V617F allelic ratio. A total of 168 of 190 female patients were informative for a clonality assay at the HUMARA locus; 80% of MMM, 75% of PV, and 67% of ET patients demonstrated clonal granulopoiesis.

Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach.

X-inactivation is a random process that occurs in females early during embryogenesis. Females are mosaics with an equal proportion of cells with the paternal (Xp) or maternal X-chromosome (Xm) in the active state. However, close to 40% of healthy females aged more than 60 y.

Genome sequence of the deep-sea gamma-proteobacterium Idiomarina loihiensis reveals amino acid fermentation as a source of carbon and energy.

We report the complete genome sequence of the deep-sea gamma-proteobacterium, Idiomarina loihiensis, isolated recently from a hydrothermal vent at 1,300-m depth on the Loihi submarine volcano, Hawaii. The I. loihiensis genome comprises a single chromosome of 2,839,318 base pairs, encoding 2,640 proteins, four rRNA operons, and 56 tRNA genes.

Breaking bad news: impact of a continuing medical education workshop.

Objective: To evaluate the impact of an interactive continuing medical education workshop designed to help physicians in breaking bad news to their patients.

Methodology: Analysis of post-workshop questionnaires from 539 physicians assessing the retention of the key concepts and the perception of the potential impact of the workshop on their practice immediately after the workshop and six months later.

Results: The most significant concepts retained by the respondents are: the need to take into consideration the whole patient (42.