Boston Children's Hospital

About: Boston Children's Hospital is a healthcare organization based out in Boston, Massachusetts, United States. It is known for research contribution in the topics: Population & Transplantation. The organization has 165409 authors who have published 215589 publications receiving 6885627 citations.

Turner's Syndrome

Abstract: Although most children with Turner's syndrome are under the care of specialists, the authors of this article suggest that most affected women can best be served by their primary care practitioners, with the use of informed judgment about the need for referral to specialists. This article reviews current concepts in the genetics, diagnosis, and management of Turner's syndrome.

Emotional Distress Among LGBT Youth: The Influence of Perceived Discrimination Based on Sexual Orientation

Abstract: The authors evaluated emotional distress among 9th-12th grade students, and examined whether the association between being lesbian, gay, bisexual, and/or transgendered (i.e., "LGBT") and emotional distress was mediated by perceptions of having been treated badly or discriminated against because others thought they were gay or lesbian. Data come from a school-based survey in Boston, Massachusetts (n = 1,032); 10% were LGBT, 58% were female, and ages ranged from 13 to 19 years. About 45% were Black, 31% were Hispanic, and 14% were White. LGBT youth scored significantly higher on the scale of depressive symptomatology. They were also more likely than heterosexual, non-transgendered youth to report suicidal ideation (30% vs. 6%, p < 0.0001) and self-harm (21% vs. 6%, p < 0.0001). Mediation analyses showed that perceived discrimination accounted for increased depressive symptomatology among LGBT males and females, and accounted for an elevated risk of self-harm and suicidal ideation among LGBT males. Perceived discrimination is a likely contributor to emotional distress among LGBT youth.

Effect of non-pharmaceutical interventions to contain COVID-19 in China.

Abstract: On 11 March 2020, the World Health Organization (WHO) declared coronavirus disease 2019 (COVID-19) a pandemic1. The strategies based on non-pharmaceutical interventions that were used to contain the outbreak in China appear to be effective2, but quantitative research is still needed to assess the efficacy of non-pharmaceutical interventions and their timings3. Here, using epidemiological data on COVID-19 and anonymized data on human movement4,5, we develop a modelling framework that uses daily travel networks to simulate different outbreak and intervention scenarios across China. We estimate that there were a total of 114,325 cases of COVID-19 (interquartile range 76,776–164,576) in mainland China as of 29 February 2020. Without non-pharmaceutical interventions, we predict that the number of cases would have been 67-fold higher (interquartile range 44–94-fold) by 29 February 2020, and we find that the effectiveness of different interventions varied. We estimate that early detection and isolation of cases prevented more infections than did travel restrictions and contact reductions, but that a combination of non-pharmaceutical interventions achieved the strongest and most rapid effect. According to our model, the lifting of travel restrictions from 17 February 2020 does not lead to an increase in cases across China if social distancing interventions can be maintained, even at a limited level of an on average 25% reduction in contact between individuals that continues until late April. These findings improve our understanding of the effects of non-pharmaceutical interventions on COVID-19, and will inform response efforts across the world. A model of the effects of different non-pharmaceutical interventions on the spread of COVID-19 in China suggests that a strategy involving the rapid implementation of a combination of interventions is most effective.

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Abstract: Growth retardation resulting in short stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linear growth has been implicated within the pseudoautosomal region (PAR1) of the human sex chromosomes. We have determined an interval of 170 kb of DNA within PAR1 which was deleted in 36 individuals with short stature and different rearrangements on Xp22 or Yp11.3. This deletion was not detected in any of the relatives with normal stature or in a further 30 individuals with rearrangements on Xp22 or Yp11.3 with normal height. We have isolated a homeobox-containing gene (SHOX) from this region, which has at least two alternatively spliced forms, encoding proteins with different patterns of expression. We also identified one functionally significant SHOX mutation by screening 91 individuals with idiopathic short stature. Our data suggest an involvement of SHOX in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients.