Discordance between karyotype from amniotic fluid and postnatal lymphocyte cultures

Discordance between karyotype seen from amniocentesis and from neonatal blood is a very unusual condition with different possible causes. We present a case of discordance between prenatal cytogenetic diagnosis from amniotic fluid and postnatal cytogenetic diagnosis from lymphocyte cultures

Mercury isotopes to explore sources and fate of Hg in the environment: the case study of the Augusta Bay (southern Italy)

The Augusta Bay is a nearly closed marine basin located on the southeastern coast of Sicily (southern Italy) which has suffered, since the early 60s, the effect of the uncontrolled chemical discharge of Hg from the most important chlor-alkali plant in Italy (Le Donne and Ciafani, 2008), resulting in high Hg concentrations in sediments, seawater, atmosphere and fishes (Bagnato et al., 2013; Bonsignore et al., 2013; Sprovieri et al., 2001; Ficco et al., 2009; ICRAM, 2005; Ausili et al., 2008; Environ International Team, 2008; Di Leonardo et al., 2007, 2008). For the first time, here we report the results obtained by the measurements of mercury isotopes in sediments, fish muscles and human hair of resident populations, in order to trace sources of Hg and processes driving the biogeochemical cycle of this metal in the environment. Actually, Hg stable isotopes demonstrated an excellent tool for identifying sources and transformation processes of this element in different environmental compartments. Specifically, a positive relationship (r2=0.94; slope: 1.07±0.01) was found between Δ201Hg and Δ199Hg (MIF) for all the environmental matrices coming from the Augusta Bay. This primarily suggests the crucial link between the main Hg source in the Augusta Bay (sediment) and the final receptor (the man) related to fish consumption. Sediments display MIF (expressed as Δ201Hg and Δ199Hg) close to zero and negative MDF (expressed as δ202Hg) that we consider biologically mediated MeHg production. The lower δ202Hg values recorded in the southern area of the basin demonstrated the higher microbial activity occurred just in the zone with the highest mercury concentration in sediments. Furthermore, MIF fractionations in fishes plot on a single line (r2=0.84; slope 1.00±0.03) clearly testifying photochemical reduction of Hg (II) prior of the intake in the marine food web. Moreover, Hg fractionates according to fish ecology with MIF and MDF higher in pelagic fishes and lower ratios in demersal and benthic species. This observation suggests crucial effects of Hg(II) photoreduction processes in surface waters and relevant effects of microbial methylation in the deeper part of the basin. Finally, hair samples show a positive relationship on the base of Δ201Hg and Δ199Hg comparison (r2= 0.93; slope 1.00±0.14) and that we ascribe to the effects of photoreduction of Hg(II) in presence of organic substances. The role of sediments as primary source of Hg for the marine biotic compartment is testified by the overlapping δ202Hg values in fishes and sediments, while the 2‰ difference in δ202Hg values between fishes and hair samples appears consistent with a metabolic fractionation (Laffont et al., 2009)

Tracing mercury pathways in Augusta Bay (southern Italy) by total concentration and isotope determination

The mercury (Hg) pollution of sediments is the main carrier of Hg for the biota and, subsequently, for the local fish consumers in Augusta Bay area (SE Sicily, Italy), a coastal marine system affected by relevant sewage from an important chlor-alkali factory. This relationship was revealed by the determination of Mass Dependent (MDF) and Mass Independent Fractionation (MIF) of Hg isotopes in sediment, fish and human hair samples. Sediments showed MDF but no MIF, while fish showed MIF, possibly due to photochemical reduction in the water column and depending on the feeding habitat of the species. Benthic and demersal fish exhibited MDF similar to that of sediments in which anthropogenic Hg was deposited, while pelagic organisms evidenced higher MDF and MIF due to photoreduction. Human hair showed high values of δ202Hg (offset of +2.2‰ with respect to the consumed fish) and Δ199Hg, both associated to fish consumption

Active Surveillance versus Surgery of Nonfunctioning Pancreatic Neuroendocrine Neoplasms 642 cm in MEN1 Patients

BACKGROUND: Aim of this study was to evaluate the efficacy of a conservative treatment for NF-PNEN 642 cm in MEN1-affected patients compared with a surgical treatment. METHODS: Databases of 4 tertiary-referral institutions (San Raffaele Scientific Institute, Milan; University of Marburg, Marburg; University of Padua, Padua; The Royal Free Hospital, London) were analyzed. Comparison of conservative management versus surgery at initial diagnosis of NF-PNEN 642 cm between 1997 and 2013 was performed. RESULTS: Overall, 27 patients (45%) underwent up-front surgery and 33 patients (55%) were followed-up at initial diagnosis. A higher proportion of patients in the surgery group were female (70 vs. 33%, p = 0.004). Patients were mainly operated in the period 1997-2007 compared with the period 2008-2013 (n = 17, 63 vs. 37%, p = 0.040). The rate of multifocal tumors was higher in the surgical group (n = 24, 89%) compared with no surgery group (n = 22, 67%, p = 0.043). After a median follow-up of 126 months, one patient deceased for postoperative complications within 30 days from surgery. The 5-, 10-, and 15-year the progression free survival (PFS) rates were 63, 39, and 10%, respectively. The median PFS were similar between the two groups. Overall, 13 patients (32.5%) were operated after an initial surgical or conservative treatment. The majority of surgically treated patients had stage 1 (77.5%), T1 (77.5%) and G1 (85%) tumors. CONCLUSIONS: NF-PNEN 6420 mm in MEN1 patients are indolent neoplasms with a low oncological risk. Surgical treatment of these tumors at initial diagnosis is rarely justified in favor of a conservative treatment

Prenatal screening of Cystic Fibrosis: a single centre exeperience

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years (1, 2). Cystic fibrosis is the most common autosomal recessive disease in the european population (3). More that 1500 mutations and a large number of polymorphisms have been identified so far from 1989. In the past 10 years we examined in our centre 25393 fetuses. The exams brought to the identification 0f 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygous in the examined sample was 1/27,5 while that of the affected was 1/2821. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles (4-8)

Intraperitoneal prophylactic drain after pancreaticoduodenectomy: an Italian survey

Intraperitoneal prophylactic drain (IPD) use in pancreaticoduodenectomy (PD) is still controversial. A survey was designed to investigate surgeons' use of IPD in PD patients through 23 questions and one clinical vignette. For the clinical scenario, respondents were asked to report their regret of omission and commission regarding the use of IPD elicited on a scale between 0 (no regret) and 100 (maximum regret). The threshold model and a multilevel mixed regression were applied. One hundred three (97.2%) respondents confirmed using at least two IPDs. The median regret due to the omission of IPD was 84 (67-100, IQR). The median regret due to the commission of IPD was 10 (3.5-20, IQR). The CR-POPF probability threshold at which drainage omission was the less regrettable choice was 3% (1-50, IQR). The threshold was lower for those surgeons who performed minimally invasive PD (P = 0.048), adopted late removal (P = 0.002), perceived FRS able to predict the risk (P = 0.006), and IPD able to avoid relaparotomy P = 0.036). Drain management policies after PD remain heterogeneous among surgeons. The regret model suggested that IPD omission could be performed in low-risk patients