Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study

Context: Somatrogon is a long-acting recombinant human growth hormone treatment developed as a once-weekly treatment for pediatric patients with growth hormone deficiency (GHD). / Objective: Evaluate patient and caregiver perceptions of the treatment burden associated with the once-weekly somatrogon injection regimen vs a once-daily Somatropin injection regimen. / Methods: Pediatric patients (≥3 to <18 years) with GHD receiving once-daily somatropin at enrollment were randomized 1:1 to Sequence 1 (12 weeks of once-daily Somatropin, then 12 weeks of once-weekly somatrogon) or Sequence 2 (12 weeks of once-weekly somatrogon, then 12 weeks of once-daily Somatropin). Treatment burden was assessed using validated questionnaires completed by patients and caregivers. The primary endpoint was the difference in mean overall life interference (LI) total scores after each 12-week treatment period (somatrogon vs Somatropin), as assessed by questionnaires. / Results: Of 87 patients randomized to Sequence 1 (n = 43) or 2 (n = 44), 85 completed the study. Once-weekly somatrogon had a significantly lower treatment burden than once-daily Somatropin, based on mean overall LI total scores after somatrogon (8.63) vs Somatropin (24.13) treatment (mean difference -15.49; 2-sided 95% CI -19.71, -11.27; P < .0001). Once-weekly somatrogon was associated with greater convenience, higher satisfaction with treatment experience, and less LI. The incidence of treatment-emergent adverse events (TEAEs) for Somatropin and somatrogon was 44.2% and 54.0%, respectively. No severe or serious AEs were reported. / Conclusion: In pediatric patients with GHD, once-weekly somatrogon had a lower treatment burden and was associated with a more favorable treatment experience than once-daily Somatropin

Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central

É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal

Distrofia muscular congênita de Ullrich moderadamente progressiva

OBJETIVOS: Descrever características clínicas e genéticas da distrofia muscular congênita de Ullrich (DMCU), e relatar o caso de um paciente diagnosticado com DMCU após uma exaustiva investigação, que incluiu análise imuno-histoquímica e genômica do colágeno tipo VI. DESCRIÇÃO: Este estudo baseou-se na avaliação clínica e imuno-histoquímica do tecido muscular e na análise genômica dos fibroblastos dérmicos de um menino de 7 anos e meio, e do DNA dos seus pais. São discutidos aspectos clínicos e o diagnóstico diferencial com outras doenças. COMENTÁRIOS: O melhor conhecimento das distrofias musculares congênitas aumentará o número de diagnósticos corretos e abrirá novos horizontes para o tratamento dessas doenças. A avaliação genética dos pacientes com DMCU tem implicações relevantes para o prognóstico e o aconselhamento genético da família. É aconselhável divulgar essa doença na comunidade pediátrica, devido ao início precoce das manifestações clínicas e o fato de ser frequentemente mal diagnosticada ou não ser diagnosticada

Forma recessiva da síndrome de Freeman-Sheldon: relato de dois irmãos afetados Recessive type of Freeman-Sheldon syndrome: report of two affected siblings

OBJETIVO: contribuir para a divulgação das peculiaridades da síndrome de Freeman-Sheldon e, em particular, do alto risco de recorrência em irmãos na sua forma recessiva, valorizando a importância do aconselhamento genético das famílias após o nascimento de uma criança afetada. DESCRIÇÃO: os autores descrevem e comentam dois casos pediátricos da síndrome de Freeman-Sheldon em irmãos cujos progenitores são normais. Os casos relatados têm suas peculiaridades mais significativas confrontadas com achados da literatura médica obtida através de pesquisa bibliográfica sobre o tema. Os casos aqui descritos corroboram ainda mais a existência de uma forma recessiva da síndrome de Freeman-Sheldon. Apesar de alguns autores sugerirem uma maior freqüência de um comprometimento neurológico grave nesta forma da síndrome, nos dois casos aqui apresentados estas manifestações não eram aparentes. COMENTÁRIOS: a síndrome de Freeman-Sheldon é heterogênea não só na sua apresentação clínica como também na sua transmissão genética. É muito importante conhecer a existência de mais de uma forma de transmissão hereditária desta síndrome, para que, após o nascimento de uma criança afetada, possa ser oferecido à família um aconselhamento genético que leve em consideração as várias possibilidades. Nestes casos estaria justificada a utilização de riscos empíricos de recorrência.<br>OBJECTIVE: to share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: the authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblings born to healthy parents. These two cases present significant peculiarities that contradict the findings of the medical literature, obtained through bibliographic research about the subject. The cases described here corroborate the existence of a recessive type of the Freeman-Sheldon syndrome. In spite of the fact that some authors suggest a high frequency of severe neurological impairment in this type of syndrome, the two cases we analyzed did not show any apparent manifestation of such sequelae. COMMENTS: the Freeman-Sheldon syndrome is heterogeneous not only in its clinical presentation but also in its genetic transmission. It is very important to be informed about the existence of more than one form of hereditary transmission of this syndrome, since genetic counseling should take into consideration all possibilities. In these cases, the use of empiric risks of recurrence would be justified

Electronically Verified Use of Internet-Based, Multimedia Decision Aids by Adolescents With Type 1 Diabetes and Their Caregivers

Decision aids (DAs) are central to shared decision making (SDM) interventions, yet little is known about patients’ actual DA use. Adequate utilization of DAs could optimize SDM effectiveness. Electronic DAs enable more objective tracking and analysis of actual DA utilization than do paper DAs. This report is part of an ongoing randomized controlled SDM trial enrolling adolescents with type 1 diabetes and their caregivers ( n = 153) who were considering use of an insulin pump or continuous glucose monitor. Extensive stakeholder engagement guided creation of two online DAs. After completing baseline measures, 133 dyads were randomized to SDM (access to the pertinent DA) or Usual Care (clinic routines for preparing candidates for adopting these devices). Utilization data showed that 80% of caregivers and 66% of youths logged into a DA at least once; youths and caregivers, respectively, dedicated a mean of 44.7 and 55.0 minutes to website use and viewed 72.2% and 77.4% of the DA content. Median total duration from enrollment to last DA logout was 48.2 days for adolescents and 45.6 days for caregivers. Bivariate comparisons showed that non-Hispanic, Caucasian females from households with higher socioeconomic status were significantly more likely to login to the assigned DA at least once. Hierarchical multiple regression showed that adolescent males with lower levels of health literacy demonstrated fewer DA logins ( F = 2.59; P < 0.009), but identified no significant predictors of adolescents’ or caregiver’ duration of DA use or proportion of DA content viewed. Future SDM trials should seek to promote DA use, especially by non-White adolescents, perhaps with direct assistance with the initial DA login. Trials employing electronic DAs should routinely report and analyze utilization data