Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results. We are reporting on two cases of feto-placental mosaicism of trisomy 21, both with a low-risk NIPT result, identified by ultrasound signs and a subsequent amniocentesis consistent with a trisomy 21. In both cases, after the pregnancy termination, cytogenetic and/or cytogenomic analyses were performed on the placenta and fetal tissues, showing in the first case a mosaicism of trisomy 21 in both the placenta and the fetus, but a mosaicism in the placenta and a complete trisomy 21 in the fetus in the second case. These cases emphasize the need for accurate and complete pre-test NIPT counselling, as well as to identify situations at risk for a possible false negative NIPT result, which may underestimate a potential pathological condition, such as feto-placental mosaicism or fetal trisomy. Post-mortem molecular autopsy may discriminate between placental, fetal and feto-placental mosaicism, and between complete or mosaic fetal chromosomal anomalies. A multidisciplinary approach in counselling, as well as in the interpretation of biological events, is essential for the clarification of complex cases, such as feto-placental mosaicisms

The International Society of Nephrology's International Consortium of Collaborators on Chronic Kidney Disease of Unknown Etiology: report of the working group on approaches to population-level detection strategies and recommendations for a minimum dataset.

There is an epidemic of chronic kidney disease (CKD) clustering in rural communities, predominantly in a number of low- and middle-income countries. 1 Tens of thousands of working-aged adults are estimated to have died from the disease in Central America 2 with similar numbers in Sri Lanka. 3 Similar diseases have been reported elsewhere, such as rural regions or communities in India and North and West Africa. Those affected do not have common risk factors or underlying conditions that lead to CKD, such as diabetes, immune-mediated glomerulonephritis, or structural renal disease. In instances where histopathology is available, the predominant feature is tubular atrophy and interstitial fibrosis. Although it is currently unclear whether there is a unified underlying cause, these conditions have been collectively termed CKD of unknown cause (CKDu). Other terms used include “CKD of nontraditional cause,” “Mesoamerican nephropathy,” “chronic intestinal nephritis in agricultural communities,” and “kidney disease of unknown cause in agricultural laborers,” but we have chosen CKDu as the most agnostic terminology

Fattori cognitivi ed emotivi nella sessualità: uno studio esplorativo in un gruppo di donne con cancro al seno

Il carcinoma mammario rappresenta la neoplasia maligna più diffusa nella popolazione femminile e, nonostante i significativi progressi nella diagnosi e nel trattamento, essa si configura come la neoplasia con la più alta mortalità tra le donne in Occidente. La diagnosi e le terapie rappresentano non solo uno sconvolgimento sul piano fisico della donna, ma hanno spesso delle conseguenze significative nella sfera emotiva, cognitiva, relazionale e sessuale delle pazienti e dei loro cari. Per quanto concerne la sfera sessuale, molti studi hanno evidenziato che le donne con diagnosi di carcinoma mammario hanno più probabilità, rispetto alle donne sane, di sviluppare disfunzioni sessuali. Partendo da questo dato l’obiettivo dello studio è quello di osservare l’eventuale relazione tra aspetti cognitivi e emotivi e le disfunzioni sessuali nelle donne con carcinoma mammario. Sono stati indagati l’alessitimia, i pensieri automatici, gli script culturali e gli schemi cognitivi, quali fattori che possono caratterizzare l’esperienza sessuale di donne con tumore al seno. Lo studio è stato condotto su donne affette da carcinoma mammario che statisticamente sembrano sviluppare più frequentemente disfunzioni sessuali, rispetto alle donne sane. I risultati emersi sembrano indicare che le donne del gruppo clinico evidenziano sia livelli più alti di alessitimia, sia un numero più elevato di credenze disfunzionali inerenti alla sfera sessuale, rispetto al gruppo di controllo. Partendo da questi elementi si potrebbero effettuare non solo utili lavori preventivi dell’insorgenza dei disturbi sessuali nelle donne con carcinoma, ma anche efficaci interventi per contrastare il mantenimento di queste disfunzioni, avvalendosi di tecniche cognitivo-comportamentali, di ristrutturazione cognitiva ed introspettive

Il patrimonio delle raccolte cetologiche minori della Puglia

Viene fornito il catalogo dei Cetacei conservati in otto musei naturalistici e collezioni scientifiche minori della Puglia. In totale sono stati censiti 26 reperti appartenenti a nove specie della fauna mediterranea. Particolarmente interessanti sono due crani di Ziphius cavirostris, con provenienza dalle coste pugliesi, e tre reperti di Delphinus delphis antecedenti la metà del secolo scorso con probabile provenienza dai mari locali.This study deals with the catalogue of Cetacean specimens kept at eight museums and scientific collections of Apulia Region. A thorough bibliographic and archivistic research was performed to reconstruct the history of the Cetacean collection in each Museum. Specimens kept were subjected to a revision of the species determination. On the whole, 26 specimens were registered belonging to nine species of the Mediterranean fauna. Particular interesting are the two skulls of Ziphius cavirostris, with origin from the Apulian coast, and three specimens of Delphinus delphis before the middle of last century with probable origin from local waters

The TOTEM Experiment at the CERN Large Hadron Collider

The TOTEM Experiment will measure the total ppbar cross-section with the luminosity-independent method and study elastic and diffractive scattering at the LHC. To achieve optimum forward coverage for charged particles emitted by the pp collisions in the interaction point IP5, two tracking telescopes, T1 and T2, will be installed on each side in the pseudorapidity region 3.1 <= |eta| <= 6.5, and Roman Pot stations will be placed at distances of +/- 147m and +/- 220m from IP5. Being an independent experiment but technically integrated into CMS, TOTEM will first operate in standalone mode to pursue its own physics programme and at a later stage together with CMS for a common physics programme. This article gives a description of the TOTEM apparatus and its performance

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM

Search for high-mass exclusive diphoton production with tagged protons in proton-proton collisions at s= \sqrt{s} = 13 TeV

A search is presented for high-mass exclusive diphoton production via photon-photon fusion in proton-proton collisions at $\sqrt{s} =$ 13 TeV in events where both protons survive the interaction. The analysis utilizes data corresponding to an integrated luminosity of 103 fb$^{-1}$ collected in 2016--2018 with the central CMS detector and the CMS and TOTEM precision proton spectrometer (PPS). Events that have two photons with high transverse momenta ($p_{\mathrm{T}}^{\gamma} >$ 100 GeV), back-to-back in azimuth, and with a large diphoton invariant mass ($m_{\gamma\gamma} >$ 350 GeV) are selected. To remove the dominant inclusive diphoton backgrounds, the kinematic properties of the protons detected in PPS are required to match those of the central diphoton system. Only events having opposite-side forward protons detected with a fractional momentum loss between 0.035 and 0.15 (0.18) for the detectors on the negative (positive) side of CMS are considered. One exclusive diphoton candidate is observed for an expected background of 1.1 events. Limits at 95% confidence level are derived for the four-photon anomalous coupling parameters $|\zeta_1|$ 100 GeV), back-to-back in azimuth, and with a large diphoton invariant mass ($m_{\gamma\gamma} \gt$ 350 GeV) are selected. To remove the dominant inclusive diphoton backgrounds, the kinematic properties of the protons detected in PPS are required to match those of the central diphoton system. Only events having opposite-side forward protons detected with a fractional momentum loss between 0.035 and 0.15 (0.18) for the detectors on the negative (positive) side of CMS are considered. One exclusive diphoton candidate is observed for an expected background of 1.1 events. Limits at 95% confidence level are derived for the four-photon anomalous coupling parameters $\lvert\zeta_1\rvert \lt$ 0.073 TeV$^{-4}$ and $\lvert\zeta_2\rvert \lt$ 0.15 TeV$^{-4}$, using an effective field theory. Additionally, upper limits are placed on the production of axion-like particles with coupling strength to photons $f^{-1}$ that varies from 0.03 TeV$^{-1}$ to 1 TeV$^{-1}$ over the mass range from 500 to 2000 GeV