Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.

     

Tracheoesophageal fistula in the developing world: are we ready for thoracoscopic repair?

Tracheoesophageal fistula (TEF) is a bellwether for a country’s ability to care for sick newborns. We aim to review the existing literature from low- and middle-income countries in regard to management of those newborns and the possible approaches to improve their outcomes. A review of the existing English literature was conducted with the aim of assessing challenges faced by providers in LMIC in terms of diagnostic, preoperative, operative and post-operative care for TEF patients. We also review the limited literature for performing thoracoscopic repair in the developing world context and suggest methods for introduction of advanced thoracoscopic procedures including techniques for providing anesthesia to these challenging babies. While outcomes related to technique from LMIC are comparable to the developed world, rates of secondary complications like sepsis and pneumonia are higher. In many areas, repairs are conducted in a staged fashion with minimal utilization of thoracoscopic approach. The paucity of resources creates strain on intraoperative and post-operative management. Clearly, not all developing world contexts are ready to attempt thoracoscopic repair but we outline suggestions for assessing the existing capabilities and a stepwise gradual implementation of advanced thoracoscopy when appropriate.     

Interleukin-11 Overexpression and M2 Macrophage Density are Associated with Angiogenic Activity in Proliferative Diabetic Retinopathy

ABSTRACT

Purpose

To investigate the expression of IL-11 and its receptor IL-11Rα and to quantify density of CD163⁺ M2 macrophages in proliferative diabetic retinopathy (PDR).