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Maritime plastic kitty: public awareness and thoughts in Croatia.
in connectivity in BSCP. The alterations of the structural brain network provided a basis for understanding of the pathophysiological mechanisms of motor and cognitive impairments in BSCP. Moreover, the right inferior frontal gyrus, putamen, thalamus could potentially be biomarkers for predicting the efficacy of TMS.Introduction Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1-2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxylase enzyme activity. Patients and Methods Here we present the study on two siblings with neonatal cholestasis diagnosed with sterol 27-hydroxylase deficiency. The clinical, biochemical, histological, and molecular presentation at the time of diagnosis and detailed follow-up were described. An extensive overview of the literature regarding patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis was also provided. Results Patient 1 presented with cholestatic jaundice since 10 weeks of age and developed the end-stage liver disease requiring liver transplantation at 8 months of age but finally succumbed 3 years post-transplantation due to autoimmune hemolytic anemia and multiorgan failure development. Next-generation sequencing performed post mortem, revealed him to be homozygous for the known pathogenic splicing variant c.1184+1G>A in the CYP27A1 gene. Patient 2 (sibling) presented with cholestatic jaundice since the first day of life. Sanger sequencing of CYP27A1 revealed the same results. Chenodeoxycholic acid treatment was introduced just after diagnosis, at 4 months of age. Fourteen patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis were reported in the literature, in most of them presenting as a self-limiting disease. Conclusions An early recognition and treatment initiation in CTX is essential.Background The aim of this study was to describe our experience with transcatheter device closure of patent ductus arteriosus (PDA) in symptomatic low-birth-weight premature infants. Methods We performed a retrospective study of infants born with a birth body weight of less then 2,000 g and admitted to National Cheng Kung University Hospital from September 2014 to December 2019. Basic demographic and clinical information as well as echocardiographic and angiographic data were recorded. Results Twenty-five premature infants (11 boys and 14 girls) born at gestational ages ranging between 22 and 35 weeks (mean, 25 weeks) were identified. The mean age at procedure was 34.5 ± 5.5 days, and the mean weight was 1,209 ± 94 g (range, 478-1,980 g). The mean diameter of the PDA was 3.4 ± 0.2 mm (range, 2.0-5.4 mm). The following devices were used in this study Amplatzer Ductal Occluder II additional size (n = 20), Amplatzer Vascular Plug I (n = 1), and Amplatzer Vascular Plug II (n = 4). Complete closure was achieved in all patients. The mean follow-up period was 30.1 ± 17.3 months (range, 6-68 months). In total, 3 patients had left pulmonary artery (LPA) stenosis and 1 patient had coarctation of the aorta during the follow-up period. Younger procedure age and smaller procedure body weight were significantly associated with these obstructions. Conclusions Performing transcatheter PDA closure in symptomatic premature infants weighing more than 478 g is feasible using currently available devices; moreover, the procedure serves as an alternative to surgery.Introduction The impact of school opening on the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic is still unknown. This study aims to provide preliminary information about the number of SARS-CoV-2 cases among students attending Italian schools. Methods Data are extracted and analyzed from an open-access, online dataset that monitor, on a daily basis, media news about SARS-CoV-2 infections of students attending Italian schools. Results As of October 5, 2020, a total of 1,350 cases of SARS-CoV-2 infections have been registered in the Italian territory schools (involving 1,059 students, 145 teachers, and 146 other school members), for a total of 1,212 out of 65,104 (1.8%) Italian schools involved. National schools reported only one case of SARS-CoV-2 infection in more than 90% of cases, and only in one high school a cluster of more than 10 cases has been described (P = 0.015). The detection of one or more SARS-CoV-2 infections led to the closure of 192 (15.8%) entire schools, more frequently nursery/kindergartens (P less then 0.0005). Discussion Our preliminary data support low transmission of SARS-CoV-2 within schools, at least among younger students. However, entire schools are frequently closed in the fear of larger outbreaks. Continuous monitoring of school settings, hopefully through daily updated open-access datasets, is needed to better understand the impact of schools on the pandemic and provide guidelines that better consider different risks within different age groups.Background Congenital nephrotic syndrome of the Finnish type (CNF) is a rare, severe glomerular disease caused by mutations in the NPHS1 gene, which codes for nephrin. It is characterised by massive proteinuria and severe edoema. Progression to end-stage kidney failure occurs during early childhood and the only curative treatment is kidney transplantation. Nowadays, patients need aggressive medical treatment, which includes daily albumin infusions (for months) until they get clinical stability to receive transplant. Objective In our paediatric hospital, we implemented a multidisciplinary program for the home infusion of albumin with outpatient follow-up. The aim of the study was to assess the safety and efficacy of this program for the first four years of its implementation. Material and Methods Retrospective observational study of CNF paediatric patients treated with home albumin infusion therapy from March 2014 to July 2018 at a tertiary care paediatric hospital. Information on albumin administration was obtained from the electronic prescription assistance program and details on clinical and care-related variables from the hospital's electronic information systems. Results Four patients with CNF received albumin infusions for 18, 21, 22 months, and 3 years. The treatment was safe, and the complication rates were to be expected considering the severity of disease. GSK-3 inhibition Patients required a median of two hospital admissions a year (19 in total); 47% due to catheter-related complications, but there were just three catheter infections. Conclusions In our experience, home albumin infusion therapy is safe and effective and helps to improve children health and quality of life.
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