Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on 12 additional pedigrees with ANKRD26 mutations, 6 of which are new. Because THC2 affected 21 of the 210 families in our database, it has to be considered one of the less rare forms of inherited thrombocytopenia. Analysis of all 21 families with ANKRD26 mutations identified to date revealed that thrombocytopenia and bleeding tendency were usually mild. Nearly all patients had no platelet macrocytosis, and this characteristic distinguishes THC2 from most other forms of inherited thrombocytopenia. In the majority of cases, platelets were deficient in glycoprotein Ia and α-granules, whereas in vitro platelet aggregation was normal. Bone marrow examination and serum thrombopoietin levels suggested that thrombocytopenia was derived from dysmegakaryopoiesis. Unexplained high values of hemoglobin and leukocytes were observed in a few cases. An unexpected finding that warrants further investigation was a high incidence of acute leukemia. Given the scarcity of distinctive characteristics, the ANKRD26-related thrombocytopenia has to be taken into consideration in the differential diagnosis of isolated thrombocytopenias.     

Role of 18F-FDG PET/CT in the diagnosis of infective endocarditis in patients with an implanted cardiac device: a prospective study

Purpose

Infective endocarditis (IE) is widely underdiagnosed or diagnosed after a major delay. The diagnosis is currently based on the modified DUKE criteria, where the only validated imaging technique is echocardiography, and remains challenging especially in patients with an implantable cardiac device. The aim of this study was to assess the incremental diagnostic role of ¹⁸F-FDG PET/CT in patients with an implanted cardiac device and suspected IE.

Methods

We prospectively analysed 27 consecutive patients with an implantable device evaluated for suspected device-related IE between January 2011 and June 2013. The diagnostic probability of IE was defined at presentation according to the modified DUKE criteria. PET/CT was performed as soon as possible following the clinical suspicion of IE. Patients then underwent medical or surgical treatment based on the overall clinical evaluation. During follow-up, we considered: lead cultures in patients who underwent extraction, direct inspection and lead cultures in those who underwent surgery, and a clinical/instrumental reevaluation after at least 6 months in patients who received antimicrobial treatment or had an alternative diagnosis and were not treated for IE. After the follow-up period, the diagnosis was systematically reviewed by the multidisciplinary team using the modified DUKE criteria and considering the new findings.

Results

Among the ten patients with a positive PET/CT scan, seven received a final diagnosis of “definite IE”, one of “possible IE” and two of “IE rejected”. Among the 17 patients with a negative PET/CT scan, four were false-negative and received a final diagnosis of definite IE. These patients underwent PET/CT after having started antibiotic therapy (≥48 h) or had a technically suboptimal examination.

Conclusion

In patients with a cardiac device, PET/CT increases the diagnostic accuracy of the modified Duke criteria for IE, particularly in the subset of patients with possible IE in whom it may help the clinician manage a challenging situation.     

Maternal exposure to endocrine disruptors and placental transmission: a pilot study

Abstract

Endocrine disruptors (EDs) are known to affect maternal and child health. The objective of our study was to identify the association between some of the most important endocrine-disruptive substances (perfluorooctane sulfonate [PFOS], perfluorooctanoic acid [PFOA], di2-ethylhexyl-phthalate [DEHP] and mono2-ethylhexyl-phthalate [MEHP]) and both pregnancy variability and birth outcomes. We measured the concentration of the EDs in maternal and cord blood samples of 29 mother–newborn pairs from the Pertini Hospital in Rome between March and June 2016. Each mother reported demographic, life style and diet information. We compared concentrations of the endocrine disruptors between mother and newborn, and among different molecules. We analyzed differences and trends of each ED substance according to the demography and diet information. PFOA levels in maternal blood showed a negative association with newborn weight. Concentration levels of PFOA in both maternal and cord blood of those with physiological progression of pregnancy were higher in than in those with pathological pregnancies. MEHP trend showed a positive association with maternal age. These results confirm the maternal-to-fetus transfer of EDs through the placenta and the impact that endocrine disruptors have on pregnancy and birth outcomes.     

Long Term Outcomes of Preterm Birth: The Role of Epigenetics

It is well established that preterm birth is associated with an increased risk for major neurosensory impairments. In addition to this, “minor” or “high prevalence/low severity” morbidities can significantly impact school performance and are prevalent in more than 50 percent of preterm survivors. Despite improved neuroimaging techniques and understanding of the factors contributing to brain injury in this population, there continues to be significant difficulty in defining what factors influence risk for adverse outcome in this population. The emerging field of epigenetics may shed additional light on this issue. The purpose of this paper is to examine the possible contributions of epigenetic processes relative to adverse neurodevelopmental outcome and to review nursing interventions which may reduce or ameliorate this risk.     

Platelet gel for the treatment of traumatic loss of finger substance

Background

Autologous or allogenic platelet gel is a blood component that exploits the effects of the cytokines contained in platelet α granules to stimulate repair processes. The properties of platelet gel were first tested on chronic ulcers to accelerate healing and later in orthopaedic, dental, vascular and cardiothoracic surgery.In our centre, we have been using platelet gel for 5 years, first for surgical patients with difficult wounds, then for orthopaedic patients undergoing osteosynthesis surgery and patients with ulcers not responding to traditional therapies. Subsequently we decided to extend the use of platelet gel also to amputations or traumatic loss of tissue of fingers.

Materials and methods

In this article we present the results obtained over 5 years concerning 115 patients with finger amputations or wounds treated with platelet gel in our Service of Transfusion Medicine. Platelets were obtained fom allogeneic buffy coats (10 mL) and the gel was produced by adding thrombin to concentrated platelets.The decision to use homologous platelet gel was based on its limited cost, ease of preparation, almost unlimited availability, the fact that the number of platelets that can be collected is much higher than the therapeutic range and so able to replace the losses due to secondary medication, and last, but not least, it causes no discomfort to patients. The safety of the product was ensured by virology tests including molecular biology studies.

Results

The recovery of soft tissue in all patients ranged from 80 to 100%; the median time for this recovery was 3 weeks (range, 10 days - 6 weeks). Approximately 60% of the patients complained of local hypoaesthesia for some weeks; 30% of the patients developed hyperaesthesia, which resolved completely within 6–8 weeks from starting treatment. Loss of bone tissue represented an obstacle to total tissue recovery, but the aesthetic results were satisfactory in nearly all cases.

Conclusion

All patients showed good compliance, both because of the low frequency of medications (at most, twice a week) and because of the painless platelet gel applications. The only negative aspect was abnormal nail growth in a case of distal partial amputation of a finger.In conclusion, we believe that platelet gel can be very useful in patients with traumatic or surgical loss of finger tissue, since it can resolve critical situations thus avoiding amputation of residual tissue and compromised joint function.     

Sagittal abdominal diameter: comparison with waist circumference and its prediction of metabolic syndrome

Background  

For an “in the field” estimate of visceral adiposity, simple, inexpensive, non-invasive and highly repetitive methods are needed. The anthropometric measurement most commonly used as an indicator for visceral fat deposits is waist circumference (W). Nevertheless, there are some doubts with regard to the anatomic landmark points where the evaluation needs to be carried out. Sagittal abdominal diameter (SAD) is another anthropometric measurement that has been proposed for the estimation of visceral fat.