X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. © 1996 Wiley-Liss, Inc.     

Fine-needle sampling of a case of carcinoma of the breast with neuroendocrine differentiation

Fine-needle sampling was performed in a woman with a left breast lump. The cytologic diagnosis was consistent with a poorly-differentiated carcinoma. Cytologic features included medium-to-large, round, and spindle-shaped cells with scanty cytoplasm, nuclear molding, and rosette-like structures. Histology revealed an endocrine pattern. Immunohistochemical staining was positive for epithelial and neuroendocrine markers, and electron microscopy showed many small membrane-bound electron-dense granules, confirming the diagnosis of breast carcinoma with neuroendocrine differentiation. DNA flow cytometry and cytogenetic analyses revealed a near-tetraploid tumor. Diagn Cytopathol 1996;14:233–237. © 1996 Wiley-Liss, Inc.     

Age effects on basic symptoms in the community: A route to gain new insight into the neurodevelopment of psychosis?

European Archives of Psychiatry and Clinical Neuroscience - Reports of limited clinical significance of attenuated psychotic symptoms before age 15/16 indicate an important role of neurodevelopment...     

Prenatal Stress Increases the Hypothalamo-Pituitary-Adrenal Axis Response in Young and Adult Rats

Prenatal stress is considered as an early epigenetic factor able to induce long-lasting alterations in brain structures and functions. It is still unclear whether prenatal stress can induce long-lasting modifications in the hypothalamo-pituitary-adrenal axis. To test this possibility the effects of restraint stress in pregnant rats during the third week of gestation were investigated in the functional properties of the hypothalamo-pituitary-adrenal axis and hippocampal type I and type II corticosteroid receptors in the male offspring at 3, 21 and 90 days of age. Plasma corticosterone was significantly elevated in prenatally-stressed rats at 3 and 21 days after exposure to novelty. At 90 days of age, prenatally-stressed rats showed a longer duration of corticosterone secretion after exposure to novelty. No change was observed for type I and type II receptor densities 3 days after birth, but both receptor subtypes were decreased in the hippocampus of prenatally-stressed offspring at 21 and 90 days of life. These findings suggest that prenatal stress produces long term changes in the hypothalamo-pituitary-adrenal axis in the offspring.     

Impact of the age of transfused red blood cells in the trauma population: A feasibility study

Following injury, transfusion of red blood cells (RBCs) of increased storage duration has been associated with an increased morbidity and mortality. Prospective trials focusing on the impact of the storage age of RBCs in severely bleeding trauma patients have failed to accrue patients. This has been attributed to an inability to maintain a large inventory of fresh RBCs, and the difficulties in obtaining consent in severely bleeding trauma patients. To address these issues, we performed a prospective, observational pilot study to evaluate the feasibility of conducting a trial focusing on RBC age in patients following injury.     

Long-term male-specific chronic pain via telomere- and p53‑mediated spinal cord cellular senescence

Mice with experimental nerve damage can display long‑lasting neuropathic pain behavior. We show here that 4 months and later after nerve injury, male but not female mice displayed telomere length (TL) reduction and p53‑mediated cellular senescence in the spinal cord, resulting in maintenance of pain and associated with decreased lifespan. Nerve injury increased the number of p53‑positive spinal cord neurons, astrocytes, and microglia, but only in microglia was the increase male‑specific, matching a robust sex specificity of TL reduction in this cell type, which has been previously implicated in male‑specific pain processing. Pain hypersensitivity was reversed by repeated intrathecal administration of a p53‑specific senolytic peptide, only in male mice and only many months after injury. Analysis of UK Biobank data revealed sex-specific relevance of this pathway in humans, featuring male‑specific genetic association of the human p53 locus (TP53) with chronic pain and a male-specific effect of chronic pain on mortality. Our findings demonstrate the existence of a biological mechanism maintaining pain behavior, at least in males, occurring much later than the time span of virtually all extant preclinical studies.