A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.

In patients with 18q deletion syndrome (18q-), immunodeficiency, autoimmunity, and allergies have been described in a subset. Pitt-Hopkins syndrome represents a specific subset of patients with 18q- who have a proximal deletion involving the TCF4 gene or a TCF4 variant. Immunodeficiency has been reported in the overall 18q- population; however, immunodeficiency with Pitt-Hopkins syndrome has not been highlighted.

A Contemporary Review of the Role of Facial Prostheses in Complex Facial Reconstruction.

Background: Maxillofacial prostheses provide effective rehabilitation of complex facial defects as alternatives to surgical reconstruction. Although facial prostheses provide aesthetically pleasing reconstructions, multiple barriers exist that prevent their routine clinical use. The accessibility of facial prostheses is limited by the scarce supply of maxillofacial prosthodontists, significant time commitment and number of clinic appointments required of patients during prosthesis fabrication, short lifespan of prostheses, and limited outcomes data.

Simply Dinner: A Randomized Controlled Trial of Home Meal Delivery.

Objective: To determine the effect of a bundled intervention (home meal delivery and provision of cooking/serving resources) on preschoolers' body mass index z-score (BMIz), dietary quality, and family meal frequency.

Methods: Participants (299 families; mean child age 4.4 years, 47% male, 55% White, 18% Black, 27% Hispanic or other race and ethnicity, and 25% were overweight or obese) were randomized to a control group or to provision of cooking/serving resources plus home meal delivery for 12 weeks (meals provided by Meals on Wheels [MOW cohort, n = 83] or a commercial service [COM cohort, n = 216]).

"Co-construction" in deliberative democracy: lessons from the French Citizens' Convention for Climate.

Launched in 2019, the French Citizens' Convention for Climate (CCC) tasked 150 randomly chosen citizens with proposing fair and effective measures to fight climate change. This was to be fulfilled through an "innovative co-construction procedure", involving some unspecified external input alongside that from the citizens. Did inputs from the steering bodies undermine the citizens' accountability for the output? Did co-construction help the output resonate with the general public, as is expected from a citizens' assembly? To answer these questions, we build on our unique experience in observing the CCC proceedings and documenting them with qualitative and quantitative data.

Supporting family meal frequency: Screening Phase results from the Simply Dinner Study.

We aimed to test main, additive, interactive effects, and feasibility of all possible combinations of six intervention components implemented for 8 weeks (Cooking/Serving Resources; Meal Delivery; Ingredient Delivery; Community Kitchen; Nutrition Education; Cooking Demonstrations). Primary outcomes were family meal frequency and preschoolers' dietary quality; secondary outcomes included family meal preparation type, meal preparation barriers, family functioning, and kitchen inventory adequacy. All possible intervention combinations were tested using a randomized factorial trial design in the first phase of a Multiphase Optimization Strategy (MOST).