Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort.

BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome is a combined primary immunodeficiency characterized by gain-of-function mutations in PIK3CD and PIK3R1. Activated phosphoinositide 3-kinase δ syndrome demonstrates a large range of phenotypes including respiratory and herpesvirus infections, lymphadenopathy, autoimmunity, and developmental delay. OBJECTIVE: To describe clinical phenotypes and disease outcomes of a large activated phosphoinositide 3-kinase δ syndrome cohort from the United States Immunodeficiency Network Registry. METHODS: A total of 38 patients were enrolled in the United States Immunodeficiency Network Registry, and 2 additional patients were obtained from the Clinical Immunology Division at Mount Sinai Hospital. Each patient's demographic characteristics, disease complications, genetic studies, laboratory data, therapeutic interventions, and clinical outcomes were reviewed. RESULTS: There was a high frequency of respiratory infections (70.0% pneumonia) and herpesvirus infections (37.5%). Bronchiectasis was observed in 45.0% of patients. Lymphadenopathy was common (52.5%), and 12.5% of patients developed lymphoma. Neurological and developmental findings were common: 20.0% had developmental delay, 15.0% had seizures, and 10.0% had dysmorphic features. Asthma was more common in PIK3CD compared with PIK3R1 patients (63.6% vs 14.3%). More subjects with PIK3CD had CD3 lymphopenia compared with the PIK3R1 cohort. Seven patients underwent hematopoietic stem cell transplantation. One patient died from infectious complications. CONCLUSIONS: This is the first cohort comparing clinical manifestations in PIK3CD and PIK3R1 patients from the USIDNET Registry. Similar frequencies of respiratory and herpesvirus infections, lymphadenopathy, and developmental delay were observed compared with previous cohort studies. However, a higher frequency of asthma and CD3 lymphopenia in the PIK3CD cohort compared with the PIK3R1 cohort was observed.

Updated Dynamics of Rhinoplasty: A Review of the Literature and Comprehensive List of the Findings.

BACKGROUND: The cardinal reason accounting for the complexity of rhinoplasty is that each maneuver during this operation has both intended and unintended effects. The purpose of this report is to review the literature and update the dynamics of rhinoplasty. METHODS: PubMed searches were conducted for "rhinoplasty dynamics" as well for keywords associated with each specific rhinoplasty maneuver. Titles were evaluated for relevance, and duplicates were consolidated with years of publication 1991 to 2019. Article types include case series (retrospective and prospective), cohort studies, and review articles. RESULTS: Beginning with the radix, its reduction apparently elongates the nose and widens the intercanthal space, while radix augmentation creates the opposite illusions. In a similar manner, dorsal hump reduction widens both the nose and intercanthal space. Nasal tip dynamics focus on the aftermath of changes to tip projection, width, and rotational position. Resection of the upper lateral cartilages can cephalically rotate the tip and reduce tip width. Manipulation of the footplates of the medial crura primarily influences the columella but can also affect tip projection. Placement of a columellar strut firmly establishes tip position. Placement of alar rim grafts advances the ala caudally, widens the nostrils, and elongates the short nostril. Alar base reduction can create the illusion of increased tip projection. Augmentation and reduction in the anterior nasal spine influence tip projection, upper lip length, and the nasolabial angle. CONCLUSIONS: As rhinoplasty techniques continue to evolve, surgeons undertaking this operation must continue to reassess the dynamics of various maneuvers. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

Gamification of nutrition: A preliminary study on the impact of gamification on nutrition knowledge, attitude, and behaviour of adolescents in Nigeria.

BACKGROUND:: In Nigeria and many parts of sub-Saharan Africa, the availability of foods that are high in salt, sugar, and saturated fat is steadily increasing. This has led to an increase in the consumption of such foods among Nigerians, particularly among adolescents. AIM:: This pilot study was undertaken to understand whether, and how, gamification of nutrition can have an impact on addressing the problem of unhealthy eating among Nigerian adolescents. METHODS:: Gamification of nutrition through board games, clubs and vouchers was introduced in three secondary schools in Abuja, Nigeria over a span of three to four months. Semi-structured focus groups were conducted with grade 11 and 12 students in the three secondary schools. Participants were asked about their perceptions of the intervention and how it influenced their eating behaviour, attitudes and knowledge about nutrition. RESULTS:: A total of 31 students participated in four focus groups. Participants reported that the intervention shifted their perceptions and preferences, leading them to alter their behaviour by incorporating more nutritious foods (such as fruits and vegetables) into their diet and engaging in more physical activity. Five themes emerged from the analyses: improved eating behaviour; increased physical activity; improved overall well-being; increased nutrition knowledge; and influencing others. CONCLUSIONS:: The results from the focus groups suggest that gamification of nutrition can lead to improvements in dietary behaviour among adolescents over the short-term. More studies are needed to evaluate the long-term effects of nutrition interventions that use gamification techniques.