Kousseff syndrome caused by deletion of chromosome 22q11-13.

Kousseff syndrome was originally described by Boris Kousseff in 1984: Pediatrics 74:395-398 in three siblings whose main features were conotruncal heart defects, neural tube defects, and dysmorphic features. The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia. The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly. Given the clinical findings, family history, and recent knowledge that open neural tube defects can occur in VCFS/DiGeorge anomaly, FISH analysis for 22q11-13 deletion was performed on the proband. A deletion was detected in him and subsequently confirmed in his father. Molecular analysis on autopsy material confirmed the deletion in the proband's deceased brother. We suggest that individuals with neural tube defects associated with other anomalies such as congenital heart defects or cleft palate be evaluated for 22q deletions

Targeting the Dietary Na: K Ratio - Considerations for Design of an Intervention Study to Impact Blood Pressure

Despite medical, dietary, and lifestyle recommendations and drug advancements, hypertension persists as among the most prevalent noncommunicable diseases in the US population, and control remains elusive. Uncontrolled hypertension may increase the risk of serious illness from various other health challenges, including cardiovascular and renal responses. Adoption of a healthy diet is a consistent core element of lifestyle modifications that are recommended for mitigation of hypertension. The dietary sodium-to-potassium ratio is recognized as having promising potential in the regulation of blood pressure. In fact, the understanding of the relation between this ratio and blood pressure was documented as a key evidence gap in the 2019 National Academies of Sciences, Engineering, and Medicine report that revised recommended intake levels for both sodium and potassium. Although notable animal and human evidence supports this point, fundamental to developing a specific dietary recommendation for a sodium-to-potassium ratio is a well-designed human intervention trial. The successful translatability of such a trial will require careful consideration of study elements, including the study population, duration, blood pressure measurement, and dietary intervention, among other factors. This paper addresses these decision points and serves as supporting documentation for a research group or organization with the interest and means to address this important data gap, which will undoubtedly be foundational for advancing dietary guidance and would inform the next iteration of Dietary Reference Intakes for sodium and potassium

Impact of a peer-support programme to improve loneliness and social isolation due to COVID-19: does adding a secure, user friendly video-conference solution work better than telephone support alone? Protocol for a three-arm randomised clinical trial

Introduction The COVID-19 pandemic has forced the implementation of physical distancing and self-isolation strategies worldwide. However, these measures have significant potential to increase social isolation and loneliness. Among older people, loneliness has increased from 40% to 70% during COVID-19. Previous research indicates loneliness is strongly associated with increased mortality. Thus, strategies to mitigate the unintended consequences of social isolation and loneliness are urgently needed. Following the Obesity-Related Behavioural Intervention Trials model for complex behavioural interventions, we describe a protocol for a three-arm randomised clinical trial to reduce social isolation and loneliness.Methods and analysis A multicentre, outcome assessor blinded, three-arm randomised controlled trial comparing 12 weeks of: (1) the HOspitals WoRking in Unity (‘HOW R U?’) weekly volunteer-peer support telephone intervention; (2) ‘HOW R U?’ deliver using a video-conferencing solution and (3) a standard care group. The study will follow Consolidated Standard of Reporting Trials guidelines.We will recruit 24–26 volunteers who will receive a previously tested half day lay-training session that emphasises a strength-based approach and safety procedures. We will recruit 141 participants ≥70 years of age discharged from two participating emergency departments or referred from hospital family medicine, geriatric or geriatric psychiatry clinics. Eligible participants will have probable baseline loneliness (score ≥2 on the de Jong six-item loneliness scale). We will measure change in loneliness, social isolation (Lubben social network scale), mood (Geriatric Depression Score) and quality of life (EQ-5D-5L) at 12–14 weeks postintervention initiation and again at 24–26 weeks.Ethics and dissemination Approval has been granted by the participating research ethics boards. Participants randomised to standard care will be offered their choice of telephone or video-conferencing interventions after 12 weeks. Results will be disseminated through journal publications, conference presentations, social media and through the International Federation of Emergency Medicine.Trial registration number NCT05228782