Behavior Change Techniques in Digital Health Interventions for Midlife Women: Systematic Review.

BACKGROUND: Digital health interventions are efficacious in health-promoting behaviors (eg, healthy eating and regular physical activity) that mitigate health risks and menopausal symptoms in midlife. However, integrated evidence-based knowledge about the mechanisms of change in these interventions is unclear. OBJECTIVE: This systematic review aimed to evaluate studies on behavior change techniques (BCTs) and mechanisms of change in digital health interventions aimed at promoting health-enhancing behaviors in midlife women (aged 40-65 years). METHODS: A systematic literature search of the electronic databases PubMed, Web of Science, PsycINFO, and Cochrane Central Register of Controlled Trials in the Cochrane Library was conducted. In total, 2 independent reviewers selected the studies for inclusion, extracted data, and completed BCT mapping of eligible studies. The mechanism of action and intervention functions of eligible studies were evaluated using the behavior change wheel framework. Reporting of psychological theory use within these interventions was explored using the Theory Coding Scheme. Mode of delivery, psychological theory, and BCTs were presented as descriptive statistics. RESULTS: In total, 13 interventions (including 1315 women) reviewed used 13 (SD 4.30, range 6-21) BCTs per intervention on average. The "Shaping knowledge" and "Repetition and substitution" behavior change categories were used most frequently, with 92% (12/13) of the interventions implementing at least one of the BCTs from these 2 categories. Only 13.98% (169/1209) of the 93 available BCTs were used, with "Instructions on behaviour" most frequently used (12/13, 92%). The behavior change wheel mapping suggests that half of the intervention content aimed to increase "Capability" (49/98, 50% of the intervention strategies), "Motivation" (41/98, 42%), and "Opportunity" (8/98, 8%). "Behavioural Regulation" was the most frequently used mechanism of action (15/98, 15%), followed by increasing "Knowledge" (13/98, 13%) and "Cognitive and Interpersonal skills" (10/98, 10%). A total of 78% (7/9) of the intervention functions were used in the studies to change behavior, primarily through "Enablement" (60/169, 35.5%), whereas no study used "Restriction" or "Modelling" functions. Although 69% (9/13) of the interventions mentioned a psychological theory or model, most (10/13, 77%) stated or suggested rather than demonstrated the use of a theoretical base, and none reported explicit links between all BCTs within the intervention and the targeted theoretical constructs. Technological components were primarily based on web-based (9/13, 69%) modes of delivery, followed by phone or SMS text message (8/13, 62%) and wearables (7/13, 54%). CONCLUSIONS: The findings of this review indicate an overall weak use of theory, low levels of treatment fidelity, insignificant outcomes, and insufficient description of several interventions to support the assessment of how specific BCTs were activated. Thus, the identified limitations in the current literature provide an opportunity to improve the design of lifestyle health-enhancing interventions for women in midlife. TRIAL REGISTRATION: PROSPERO CRD42021259246; https://tinyurl.com/4ph74a9u.

Head-Up Tilt Test in Risk Stratification of Patients with Hypertrophic Cardiomyopathy.

Conflicting results have been published considering the role of head-up tilt test (HUTT) positivity as a prognostic factor in patients with hypertrophic cardiomyopathy (HCM). The relationship between HCM patients' genotype and their HUTT results has not been previously reported. The aim of this study was to evaluate patients with HCM and their HUTT results in regard to its value for outcome prediction and to investigate the relation of patients' genotype and their HUTT results. Seventy-four (51 ± 15 years; 42% women; median follow-up 72 months) HCM patients were divided into two groups based on their HUTT results and were retrospectively analyzed. In 67 (90.5%) subjects included in the analysis, next-generation sequencing-based genomic testing was performed. A composite end point of unexplained syncope, heart failure hospitalization, and death was defined. A total of 14 patients (18.9%) had positive HUTT (HUTT+), whereas 60 (81.1%) had negative HUTT (HUTT-). Except for the New York Heart Association functional class ( p = 0.01), both groups had similar characteristics. Positive genotype was evenly distributed between the two groups. Composite end point occurred in 5 patients (35.7%) in HUTT+ group versus 14 (23.3%) patients in HUTT- group ( p = 0.33). We did not find a relationship between HUTT results and long-term outcome. We found no association between HUTT results and genotype.

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

INTRODUCTION: The yield of genetic testing in hypertrophic cardiomyopathy (HCM) is variable. The Mayo HCM Genotype Predictor score (Mayo Score) provides the pre-test probability of a positive HCM genetic test. In the original cohort of Mayo Score patients, only 9 HCM-associated myofilament genes were evaluated. The aim of this study was to validate the Mayo Score in the national HCM cohort and assess the yield of genetic testing using next generation sequencing (NGS) evaluating up to 229 genes. MATERIAL AND METHODS: We included 336 consecutive unrelated HCM patients (41% women, mean age: 53 ±15 years). We performed NGS-based genomic testing with classification of identified variants according to American College of Medical Genetics and Genomics guidelines. NGS findings were compared with the Mayo Score (ranging from -1 to 5) based on clinical and echocardiographic variables. RESULTS: We identified 72 variants classified as pathogenic or likely pathogenic in 70 (21%) HCM patients. One patient with the highest Mayo Score of 5 had a pathogenic mutation (100% yield). Patients with a Mayo Score of 4 had a pathogenic mutation in 71% of cases. Patients with a Mayo Score of 3 or 2 had a pathogenic mutation in 50 and 35% of cases, respectively. The yield of genetic testing in patients with a Mayo Score of -1 to 1 was low (6-21%). CONCLUSIONS: The overall yield of genetic testing using NGS evaluating up to 229 genes was low. The yield of genetic testing was consistently predicted with Mayo Score values.

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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BACKGROUND: Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. As the JAK-STAT pathway is known to transduce the growth hormone (GH) signalling, and STAT3 interacts with STAT5 in growth regulation, we hypothesised that short stature in STAT3 GOF mutations results mostly from GH insensitivity via involving activation of STAT5. CASE REPORT: A boy with a novel STAT3 c.2144C>T (p.Pro715Leu) mutation presented with short stature (-2.60 SD at 5.5 years). He developed diabetes mellitus at 11 months, generalised lympho-proliferation, autoimmune thyroid disease, and immune bicytopenia in the subsequent years. At 5.5 years, his insulin-like growth factor-1 (IGF-I) was 37 µg/L (-2.22 SD) but stimulated GH was 27.7 µg/L. Both a standard IGF-I generation test (GH 0.033 mg/kg/day sc; 4 days) and a high-dose prolonged IGF-I generation test (GH 0.067 mg/kg/day sc; 14 days) failed to significantly increase IGF-I levels (37-46 and 72-87 µg/L, respectively). The boy underwent haematopoietic stem cell transplantation at 6 years due to severe neutropenia and massive lymphoproliferation, but unfortunately deceased 42 days after transplantation from reactivated generalised adenoviral infection. CONCLUSIONS: Our findings confirm the effect of STAT3 GOF mutation on the downstream activation of STAT5 resulting in partial GH insensitivity. 
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