Familial essential thrombocythemia: 6 cases from a mono‐institutional series

Rarely essential thrombocythemia (ET) is diagnosed in more than one person within a family. Familial myeloproliferative neoplasms are underdiagnosed. In this report, we describe 6 couples of familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation.     

Recurrent aortoduodenal fistula

Aortoenteric fistula is defined as a communication between the aorta and an adjacent loop of the bowel and is often the cause of devastating upper gastrointestinal tract bleeding with only few survivors. According to the etiology, the aortoenteric fistulas are classified as primary aortoenteric fistula or secondary aortoenteric fistula (SAEF) after previous aortic surgery. The recurrence of a fistula on a previous SAEF is defined as recurrent aortoenteric fistula and is reported only in a few rare cases occurring within an unpredictable period from the previous surgical treatment. We describe a unique case of recurrent aortoenteric fistula, in which the relationship with recurrence consisted of the presence of the metallic clips of a stapled suture to close the duodenal wall during the previous SAEF repair. A review of the published data on this subject was performed to analyze the clinical features, the overall results, the risk factors of recurrence, and the main technical points of surgical treatment to prevent it.     

Genetic diversity of HIV-1 non-B strains in Sicily: evidence of intersubtype recombinants by sequence analysis of gag, pol, and env genes

The molecular epidemiology of HIV-1 strains in Sicily (Italy) was phylogenetically investigated by the analysis of HIV-1 gag, pol, and env gene sequences from 11 HIV-1 non-B strains from 408 HIV-1-seropositive patients observed from September 2001 to August 2006. Sequences suggestive of recombination were further investigated by bootscanning analysis of various fragments. Overall, we identified several second-generation recombinant (SGRs) strains, which contained genetic material of CRF02_AG in at least one gene. Notably, three individuals were found to be infected with subsubtype A3, and one of them showed genetic recombination with subsubtype A4. The current study emphasizes the genetic analysis of gag, pol, and env genes as a powerful tool to trace the spread of complex HIV-1 recombinant forms, and highlight the genetic diversity of HIV-1 non-B strains in Italy.     

Successful endoscopic repair of an unusual colonic perforation following polypectomy using an endoclip device

Colonic perforation during endoscopic diagnostic or therapeutic procedures,represents an uncommon occurrence even if,together with haemorrhage,it is still the most common complication of colonoscopy,with an incidence ranging between 0.1% and 2% of all colonoscopic procedures. The ideal treatment in these cases remains elusive as the endoscopist and the surgeon have to make a choice case by case,depending on many factors such as how promptly the rupture is identified,the condition of the patient,the degree of contamination and the evidence of peritoneal irritation. Surgical interventions both laparotomic and laparoscopic,and other medical non-operative solutions are described in the literature. Only three cases have been reported in the literature in which the endoscopic apposition of endoclips was used to repair a colonic perforation during colonoscopy. Ours is the first case that the perforation itself was caused by the improper functioning of a therapeutic device.     

Tako-Tsubo like syndrome triggered by meperidine

We present a case of "inverted Tako-Tsubo" syndrome in a woman sedated with meperidine before undergoing a colonscopy. We discuss possible etiology of this ventricular dysfunction.     

Generation of diversity by somatic mutation in the Camelus dromedarius T‐cell receptor gamma variable domains

In jawed vertebrates the V‐(D)‐J rearrangement is the main mechanism generating limitless variations of antigen‐specific receptors, immunoglobulins (IGs), and T‐cell receptors (TCRs) from few genes. Once the initial diversity is established in primary lymphoid organs, further diversification occurs in IGs by somatic hypermutation, a mechanism from which rearranged TCR genes were thought to be excluded. Here, we report the locus organization and expression of the T‐cell receptor gamma (TCRG) genes in the Arabian camel (Camelus dromedarius). Expression data provide evidence that dromedary utilizes only two TCRG V‐J genomic arrangements and, as expected, CDR3 contributes the major variability in the V domain. The data also suggest that diversity might be generated by mutation in the productively rearranged TCRGV genes. As for IG genes, the mutational target is biased toward G and C bases and (A/G/T)G(C/T)(A/T) motif (or DGYW). The replacement and synonymous substitutions (R/S) ratios in TCRGV regions are higher for CDR than for framework region, thus suggesting selection toward amino acid changes in CDR. Using the counterpart human TCR γδ receptor as a template, structural models computed adopting a comparative procedure show that nonconservative mutations contribute to diversity in CDR2 and at the γδ V domain interface.     

Time from adenosine di-phosphate receptor antagonist discontinuation to coronary bypass surgery in patients with acute coronary syndrome: Meta-analysis and meta-regression

Background

Adenosine di-phosphate receptor antagonists (ADPRAs) blunt hemostasis for several days after administration. This effect, aimed at preventing cardiac ischemic complications particularly in patients with acute coronary syndromes (ACS), may increase perioperative bleeding in the case of cardiac surgery. Practice Guidelines recommend withholding ADPRAs for at least 5 days prior to surgery, though with a weak base of evidence. The purpose of this study was to systematically review observational and experimental studies of early or late preoperative discontinuation of ADPRAs prior to coronary artery bypass grafting (CABG) for patients with ACS.

Methods

MEDLINE, EMBASE, the Cochrane Library databases up to December 2011; and reference lists.Observational and experimental studies that compared early ADPRA discontinuation with late discontinuation, or no discontinuation, in patients with ACS undergoing CABG.

Results

There were 19 studies, including 14,046 participants, 395 deaths and 309 reoperations due to bleeding. ADPRA late discontinuation up to CABG was associated with an increased risk of postoperative mortality (OR 1.46, 95% confidence interval (CI) 1.10 to 1.93) and reoperations due to bleeding (OR 2.18; 95% CI 1.47 to 2.62). Between-study heterogeneity was low. Meta-analysis limited to high quality or prospective studies gave consistent results. In most instances, the 95% prediction intervals for summary risk estimates confirmed the risk across study groups.

Conclusions

ADPRA late discontinuation prior to CABG is associated with an increased risk of death and reoperations due to bleeding in patients with ACS. The confidence in the estimates of risk for late discontinuation is moderate to high.