mHealth, such as apps running on consumer smart devices is becoming increasingly popular and has the potential to profoundly affect healthcare and health outcomes. However, it may be disruptive and results achieved are not always reaching the goals. Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline using the best evidence-based approach to care pathways suited to real-life using mobile technology in allergic rhinitis (AR) and asthma multimorbidity. Patients largely use over-the-counter medications dispensed in pharmacies. Shared decision making centered around the patient and based on self-management should be the norm. Mobile Airways Sentinel networK (MASK), the Phase 3 ARIA initiative, is based on the freely available MASK app (the Allergy Diary, Android and iOS platforms). MASK is available in 16 languages and deployed in 23 countries. The present paper provides an overview of the methods used in MASK and the key results obtained to date. These include a novel phenotypic characterization of the patients, confirmation of the impact of allergic rhinitis on work productivity and treatment patterns in real life. Most patients appear to self-medicate, are often non-adherent and do not follow guidelines. Moreover, the Allergy Diary is able to distinguish between AR medications. The potential usefulness of MASK will be further explored by POLLAR (Impact of Air Pollution on Asthma and Rhinitis), a new Horizon 2020 project using the Allergy Diary.

Aarskog‐Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X‐linked form is caused by mutations of the FGD1 gene. Although clinical manifestations and diagnostic criteria are well established, diagnosis is not simple, as the spectrum of phenotypical features may be extremely variable. Here, we report on the clinical and genetic characterization of a family in which molecular analyses revealed the inheritance of a novel truncating mutation of the FDG1 gene (c.945insC) in two affected brothers, with one of them displaying unusually severe craniofacial abnormalities. This previously unreported combination of anomalies might be due to the occurrence of two distinct disorders (AAS and hemifacial microsomia) or may represent an extension of the AAS phenotypic spectrum. Our findings highlight the phenotypic heterogeneity of AAS, supporting the opinion that the FGD1 mutations result in a broad spectrum of severity and, in some cases, may express a clinical appearance very different than typically described. © 2006 Wiley‐Liss, Inc.

An increased prevalence of congenital defects was found in our PWS patients. This finding suggests the need for further studies in PWS children that allow physicians to detect the congenital defects found in this series and, thus, to anticipate complications, with the ultimate aim of enhancing the management of PWS patients.

T he prevalence of obesity has increased starkly during the last decades, and this trend includes every age, sex, race and socioeconomic group. 1,2 According to the most recent epidemiologic data, 1,2 approximately two thirds of the US population are either overweight or obese, of whom approximately 30% are obese and more than 5% are morbidly obese. Although some reports suggest that the trend of obesity may have begun to stabilize within some segments of the US population, 3 other studies project that obesity prevalence will continue to worsen, with as many as 50% of Americans potentially being obese by the year 2030. 4 Obesity has been linked to increased mortality resulting from acute and chronic comorbidities including diabetes, stroke, and cardiovascular diseases (CVDs). 5 The epidemic of obesity also has reached the intensive care unit (ICU), such that 33% of ICU patients are obese and 7% are morbidly obese. 6 Consequently, obesity complicates all aspects of health care in the ICU by increasing the complexity of management, nutritional support, and changes in the pattern of comorbidities. 7 Furthermore, obesity induces anatomic and physiologic changes that may interfere with the body response to injury and complicate any hospitalization. 7 In this article, we will review recent studies that have examined the impact of obesity in critical illness. PATIENTS METHODSA MEDLINE/PubMed search from 1990 TO 2014 was conducted using the National Library of Medicine MeSH search terms obesity, abdominal obesity, body mass index, critical illness, mortality, and organ failure. All publication types were searched, and relevant English-language studies, case reports, meta-analysis review articles, and short communications were then extracted and manually cross-referenced. Only clinical studies using explicit definitions of obesity, morbid obesity, or body mass index (BMI) were included. Throughout the review, obesity is defined as a BMI of 30 kg/m 2 or greater, morbid obesity as a BMI of 40 kg/m 2 or greater, and overweight as a BMI of 25 kg/m 2 to 29.9 kg/m 2 , unless specified otherwise. Underweight and healthy BMIs were defined as BMI less than 18.5 kg/m 2 and 18.5 kg/m 2 to 24.9 kg/m 2 , respectively. Studies pertaining to critical illness included an ICU length of stay (LOS) of 24 hours or longer. Although the main focus of this review is the impact of obesity on critical illness, an appreciation of fundamental physiologic derangements associated with obesity is essential to evaluate the response of obese patients to critical illness. We have thus structured our review as follows. We begin by discussing the development of pathologic conditions-associated with obesity. We then review available data on the impact of obesity on critical illness outcomes. When used for discussion, the term obesity refers to BMI of 30 kg/m 2 or greater. In many instances, data are available for one demographic group but not the other, and care is taken to make this distinction clear throughout the review.