Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

Background: Vosoritide is a recombinant C-type natriuretic peptide analogue that increases annualised growth velocity in children with achondroplasia aged 5-18 years. We aimed to assess the safety and efficacy of vosoritide in infants and children younger than 5 years.

Methods: This double-blind, randomised, placebo-controlled, phase 2 trial was done in 16 hospitals across Australia, Japan, the UK, and the USA.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear.

Recovery of bowel function after transperitoneal or retroperitoneal laparoscopic pyeloplasty. A multi-center study.

Aim: To document the recovery of bowel function (BF) in children after transperitoneal (TP) or retroperitoneal (RP) laparoscopic pyeloplasty.

Methods: Data were obtained retrospectively from four centers between 2008 and 2019 for TP (n = 51) and RP (n = 58). Each surgeon chose which technique to perform.

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

Purpose: Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in development for the treatment of achondroplasia. This phase 3 extension study was conducted to document the efficacy and safety of continuous, daily vosoritide treatment in children with achondroplasia, and the two-year results are reported.

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.

Background: There are no effective therapies for achondroplasia. An open-label study suggested that vosoritide administration might increase growth velocity in children with achondroplasia. This phase 3 trial was designed to further assess these preliminary findings.

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice-site mutation of TNFRSF11A have been reported, and TNFRSF11A is also a causal gene for osteopetrosis, autosomal recessive 7 (OP-AR7). Thus, the causal genes of DOS and their genotype-phenotype associations remain unclear.

Extracardiac rerouting of the persistent left superior vena cava in the left isomerism heart.

The left isomerism heart is common to have various forms of the systemic and pulmonary venous connections, for which numerous reparative methods have been proposed. This report describes a successful extracardiac rerouting of the persistent left superior vena cava of a 6-year-old girl patient having the isomerism heart, bilateral superior vena cava, partial anomalous pulmonary venous connection, and partial form of the atrioventricular septal defect. Intraatrial rerouting of the left superior vena cava was found unfeasible, since this procedure had a potential hazard to obstruct the systemic and/or pulmonary venous drainage.

[A case of successful surgery for tetralogy of Fallot with single atrium, azygous connection and partial anomalous pulmonary venous drainage in atrio-visceral heterotaxic syndrome].

A 2-year-old girl of heterotaxia associated with complex anomalies was reported. Major cardiac anomaly was tetralogy of Fallot (TOF), which associated with the interruption of the inferior vena cava, persistent left superior vena cava (PLSVC), common atrium and partial anomalous pulmonary venous drainage (PAPVD) to the coronary sinus. The two dimensional echocardiogram displayed the characteristic views of TOF and the additional interesting abnormalities near the mitral ring.