Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy. We describe four affected children of two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. In the four patients, we found the following homozygous loss of function (LoF) variants in SLC30A5 NM_022902.4:c.832_836del p.(Ile278Phefs*33) and NM_022902.4:c.1981_1982del p.(His661Tyrfs*10). Knockout of SLC30A5 has previously been shown a cardiac phenotype in mouse models and no homozygous LoF variants in SLC30A5 are currently described in gnomAD. Taken together, we present SLC30A5 as a new gene for a severe and perinatally lethal form of cardiomyopathy

Cervical ectopic pregnancy – the first case of live birth and uterus-conserving management

A 37-old III gravida II para with two previous cesarean sections (CS) presented in 7 + 3 weeks of pregnancy with cervical ectopic pregnancy (CEP). At 12th week of pregnancy, a cerclage was performed to avoid cervical distention by the expanding placenta. Due to missing experience in CEP management and to avoid emergency operation, we recommended CS in 30th week of pregnancy due to unspecific pain of the patient. Vaginal bleeding never occured. After transverse laparotomy, the urinary bladder was sharply dissected from the anterior uterine and cervical wall. The baby was delivered by transverse cervicotomy caudally of the placenta. The placenta was left in situ. The patient then got prophylactic embolization of the uterine arteries to prevent further severe hemorrhage. 48 h later, ultrasound showed a floating, avascular placenta within a poor echogenic fluid-filled cervical space as well as macrohematuria. After re-laparotomy and cervicotomy at the same day, the placenta was completely and easily evacuated. A bladder injury was recognized and closed. We performed a cervical internal os plasty by inverting the cervical lips and suturing their distal ends on the proximal cervical tissue, resulting in complete bleeding cessation. Although, the patient got 8 erythrocyte concentrates at all, she was always in a stable condition without hemorrhagic shock. This case demonstrates for the first time a live-birth with uterus-conserving management in CEP

The real-time multiparametric network of Campi Flegrei and Vesuvius

Volcanic processes operate over a wide range of time scale that requires different instruments and techniques to be monitored. The best approach to survey a volcanic unrest is to jointly monitor all the geophysical quantities that could vary before an eruption. The monitoring techniques are sometimes peculiar for each volcano, which has its own behavior. The simultaneous investigation of all the geophysical and geochemical parameters improves the sensibility and the understanding of any variation in the volcanic system. The Osservatorio Vesuviano is the INGV division charged of the Campi Flegrei and Vesuvius monitoring, two of the highest risk volcanic complexes in the world due to the large number of people living on or close to them. Each of them have peculiarities that increase the monitoring challenge: Campi Flegrei has high anthropic noise due to people living within its numerous craters; Vesuvius has a sharp topography that complicates the data transmission and analysis. The real time monitoring of the two areas involves several geophysical fields and the data are transmitted by a wide data-communication wired or radio infrastructure to the Monitoring Centre of Osservatorio Vesuviano: - The seismic network counts of 20 station sites in Campi Flegrei and 23 in Vesuvius equipped with velocimetric, accelerometric and infrasonic sensors. Some of them are borehole stations. - The GPS network counts of 25 stations operating at Campi Flegrei caldera and 9 stations at Vesuvius volcano. All the procedures for remote stations managing (raw data downloading, data quality control and data processing) take place automatically and the computed data are shown in the Monitoring Centre. - The mareographic network counts of 4 stations in the Campi Flegrei caldera coast and 3 close to the Vesuvius that transmit to the Monitoring Centre where the data are elaborated. - The tiltmetric network consist of 10 stations distributed around Pozzuoli harbor, the area of maximum ground uplift of Campi Flegrei, evidenced since 2005, and 7 stations distributed around the Vesuvius crater. Each tiltmetric station is also equipped with a temperature and magnetic sensor. The signals recorded are sent to the Monitoring Centre. - The 4 marine multiparametric stations installed in the Pozzuoli gulf send accelerometric, broad band, hydrophonic and GPS data to the Monitoring Centre. - The geochemical network counts of 4 multiparametric stations in the fumarolic areas of Campi Flegrei and 2 stations in the Vesuvius crater (rim and bottom) with data transmission to the Monitoring Centre. They collect soil CO2 flux, temperature gradient and environmental and meteorological parameters and transmit them directly to the Monitoring Centre. - The permanent thermal infrared surveillance network (TIRNet) is composed of 6 stations distributed among Campi Flegrei and Vesuvius. The stations acquire IR scenes at night-time of highly diffuse degassing areas. IR data are processed by an automated system of IR analysis and the temperatures values are sent to the Monitoring CentrePublishedVienna, Austria1IT. Reti di monitoraggio e sorveglianz

High Risk of Secondary Infections Following Thrombotic Complications in Patients With COVID-19

Background. This study’s primary aim was to evaluate the impact of thrombotic complications on the development of secondary infections. The secondary aim was to compare the etiology of secondary infections in patients with and without thrombotic complications. Methods. This was a cohort study (NCT04318366) of coronavirus disease 2019 (COVID-19) patients hospitalized at IRCCS San Raffaele Hospital between February 25 and June 30, 2020. Incidence rates (IRs) were calculated by univariable Poisson regression as the number of cases per 1000 person-days of follow-up (PDFU) with 95% confidence intervals. The cumulative incidence functions of secondary infections according to thrombotic complications were compared with Gray’s method accounting for competing risk of death. A multivariable Fine-Gray model was applied to assess factors associated with risk of secondary infections. Results. Overall, 109/904 patients had 176 secondary infections (IR, 10.0; 95% CI, 8.8–11.5; per 1000-PDFU). The IRs of secondary infections among patients with or without thrombotic complications were 15.0 (95% CI, 10.7–21.0) and 9.3 (95% CI, 7.9–11.0) per 1000-PDFU, respectively (P = .017). At multivariable analysis, thrombotic complications were associated with the development of secondary infections (subdistribution hazard ratio, 1.788; 95% CI, 1.018–3.140; P = .043). The etiology of secondary infections was similar in patients with and without thrombotic complications. Conclusions. In patients with COVID-19, thrombotic complications were associated with a high risk of secondary infections

Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy. We describe four affected children of two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. In the four patients, we found the following homozygous loss of function (LoF) variants in SLC30A5 NM_022902.4:c.832_836del p.(Ile278Phefs*33) and NM_022902.4:c.1981_1982del p.(His661Tyrfs*10). Knockout of SLC30A5 has previously been shown a cardiac phenotype in mouse models and no homozygous LoF variants in SLC30A5 are currently described in gnomAD. Taken together, we present SLC30A5 as a new gene for a severe and perinatally lethal form of cardiomyopathy

Uterine Artery Embolization in the Twentieth Week of Pregnancy in Abnormally Invasive Placenta with Live Birth

An abnormally invasive placenta is an increasing and potentially life-threatening pregnancy complication. The case presented herein is a heterotopic dichorial pregnancy with implantation of 1 placenta within the isthmocervical area, which caused vaginal bleeding during the 20th week of pregnancy, requiring a blood transfusion. To stop the bleeding, a bilateral embolization of the cervical branches of the uterine arteries was performed. The embolization was well tolerated and resulted in the abrupt and lasting cessation of bleeding for more than 10 weeks, resulting in the live birth of 1 child