Engraftment after autologous hematopoietic stem cell transplantation in patients mobilized with Plerixafor: A retrospective,multicenter study of a large series of patients

Plerixafor (PLX) appears to effectively enhance hematopoietic stem-cell mobilization prior to autologous hematopoietic stem cell transplantation (auto-HCT). However, the quality of engraftment following auto-HCT has been little explored. Here, engraftment following auto-HCT was assessed in patients mobilized with PLX through a retrospective, multicenter study of 285 consecutive patients. Information on early and 100-day post-transplant engraftment was gathered from the 245 patients that underwent auto-HCT. The median number of PLX days to reach the stem cell collection goal (≥2 × 10⁶ CD34⁺ cells/kg) was 1 (range 1–4) and the median PLX administration time before apheresis was 11 h (range 1–18). The median number of apheresis sessions to achieve the collection goal was 2 (range 1–5) and the mean number of CD34⁺ cells collected was 2.95 × 10⁶/kg (range 0–30.5). PLX administration was safe, with only 2 mild and transient gastrointestinal adverse events reported. The median time to achieve an absolute neutrophil count (ANC) >500/μL was 11 days (range 3–31) and the median time to platelet recovery >20 × 10³/μL was 13 days (range 5–69). At 100 days after auto-HCT, the platelet count was 137 × 10⁹/L (range 7–340), the ANC was 2.3 × 10⁹/L (range 0.1–13.0), and the hemoglobin concentration was 123 g/L (range 79–165). PLX use allowed auto-HCT to be performed in a high percentage of poorly mobilized patients, resulting in optimal medium-term engraftment in the majority of patients in whom mobilization failed, in this case mainly due to suboptimal peripheral blood CD34⁺ cell concentration on day +4 or low CD34⁺ cell yield on apheresis.     

A genetic interaction of NRXN2 with GABRE,SYT1 and CASK in migraine patients: a case-control study

BackgroundMigraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has focused on the role of neurotransmitter release and its regulation. Neurexin (NRXN2) is one of the components of the synaptic vesicle machinery, responsible for connecting intracellular fusion proteins and synaptic vesicles.Our aim was to continue exploring the role and interaction of proteins involved in the control and promotion of neurotransmission in migraine susceptibility.MethodsA case-control study was performed comprising 183 migraineurs (148 females and 35 males) and 265 migraine-free controls (202 females and 63 males). Tagging single nucleotide polymorphisms of NRXN2 were genotyped to assess the association between NRXN2 and migraine susceptibility. The χ² test was used to compare allele frequencies in cases and controls and odds ratios were estimated with 95% confidence intervals. Haplotype frequencies were compared between groups. Gene-gene interactions were analysed using the Multifactor Dimensionality Reduction v2.0.ResultsWe found a statistically significant interaction model (p = 0.009) in the female group between the genotypes CG of rs477138 (NRXN2) and CT of rs1158605 (GABRE). This interaction was validated by logistic regression, showing a significant risk effect [OR = 4.78 (95%CI: 1.76–12.97)] after a Bonferroni correction. Our data also supports a statistically significant interaction model (p = 0.011) in the female group between the GG of rs477138 in NRXN2 and, the rs2244325''s GG genotype and rs2998250’s CC genotype of CASK. This interaction was also validated by logistic regression, with a protective effect [OR = 0.08 (95%CI: 0.01–0.75)]. A weak interaction model was found between NRXN2-SYT1. We have not found any statistically significant allelic or haplotypic associations between NRXN2 and migraine susceptibility.ConclusionsThis study unravels, for the first time, the gene-gene interactions between NRXN2, GABRE - a GABA_A-receptor - and CASK, importantly it shows the synergetic effect between those genes and its relation with migraine susceptibility.These gene interactions, which may be a part of a larger network, can potentially help us in better understanding migraine aetiology and in development of new therapeutic approaches.Supplementary InformationThe online version contains supplementary material available at 10.1186/s10194-021-01266-y.     

Schloffer's tumor: Case report and review of the literature

INTRODUCTION

The so-called Schloffer tumor (ST) is a rare inflammatory pseudotumor. It usually appears several years after abdominal surgery or trauma.

PRESENTATION OF CASE

A 32-year-old man was referred to our hospital complaining of a painful mass in the left hypochondrium, postprandial distension and a weight loss of about 14 kg. He had had a left inguinal hernioplasty without mesh the previous year. Ultrasonography of the abdomen showed a 2 cm × 2 cm hypoechoic lesion in contact with the abdominal wall. Computerized tomography of the abdomen showed a heterogeneous mass in the great omentum.Laparoscopic exploration revealed an omental mass firmly attached to the abdominal wall. A great deal of purulent fluid spread during the procedure. Due to the difficult exploration, the procedure converted to hand assisted laparoscopy. We find an omental tumor involving the stomach and the transverse colon. Inside the mass there were purulent material and non-absorbable sutures. A drain was left inside the cavity of the abscess. Histological examination showed chronic inflammation.

DISCUSSION

ST characteristically presents a central chronic abscess containing non-absorbable sutures. It has been described after appendectomy, hernioplasty, hysterectomy, gastrectomy or colonic resections. Although benign, its progressive growth and infiltrating behavior resemble malignant tumors.

CONCLUSION

We suggest that a mini-invasive approach should always be performed. The interesting thing about this case is the appearance of the tumor in a place far away from the previous surgical site. A simple drainage and removal of suture material solves the problem of these patients.     

Down-regulation of Na(+)/K(+)-ATPase alpha(2) isoform in denervated rat vas deferens

In the rat vas deferens, an organ richly innervated by peripheral sympathetic neurons, we have demonstrated recently the expression of alpha(1) and alpha(2), but not alpha(3) isoforms of the alpha subunit of Na(+)/K(+)-ATPase (EC 3.6.1.37), a membrane-bound enzyme of vital function for living cells (No?l et al., Biochem Pharmacol 55: 1531-1535, 1998). In the present work, we characterized, qualitatively and quantitatively, Na(+)/K(+)-ATPase alpha isoforms in denervated rat vasa deferentia. [(3)H]Ouabain binding at concentrations defined for high-affinity isoforms (alpha(2) and/or alpha(3)) detected only one class of specific binding sites in control (C) and denervated (D) vas deferens. Although the dissociation constant was similar for both groups [K(d) = 138 +/- 14 nM (C) and 125 +/- 8 nM (D)], a marked decrease in density was observed after denervation [716 +/- 81 fmol.mg protein(-1) (C) and 445 +/- 34 fmol.mg protein(-1) (D), P < 0.05]. In addition, western blotting revealed that denervated vasa deferentia produce the alpha(1) and alpha(2) isoforms but not alpha(3), just as we reported for the controls previously (No?l et al., Biochem Pharmacol 55: 1531-1535, 1998). Densitometric analysis showed a decrease of the alpha(2) isoform by about 40% in denervated organs, in very good agreement with what was shown with the [(3)H]ouabain binding technique, but no significant change in alpha(1) isoform density. Truncated alpha(1) (alpha(1)T), an isoform suggested to exist in the guinea pig vas deferens, was not detected. Altogether, our results demonstrated that Na(+)/K(+)-ATPase alpha(2) is down-regulated after sympathetic denervation of the rat vas deferens.     

Corpus callosum infarcts with atypical clinical and radiologic presentations

Infarcts of the corpus callosum have not been well documented in the radiologic literature. We present five cases that were unusual in either their clinical or radiologic presentation or both. Biopsies were performed in three of the five cases, and in time, all lesions evolved in a pattern consistent with infarct. Recognition of the varied clinical and radiologic presentation of infarcts of the corpus callosum will obviate the need for biopsy in most patients.