CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. We subsequently chose to use the same pathogenesis-based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis-targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.

An Assessment of Individual Preference for a Novel Capillary Blood Collection System.

Purpose: Typical barriers to venous blood collection for wellness testing include discomfort, time spent, and collection site accessibility. This study assessed individuals' experience, satisfaction, and preference associated with a FDA-cleared blood-collection device, the BD MiniDraw™ Capillary Blood Collection System (BD MiniDraw), in retail locations. Patients and Methods: A total of 113 individuals (≥18 years) with venous blood collection experience were enrolled; 107 completed the study. A pre-collection survey gathered information on demographics and past experiences with healthcare and venous blood collection settings. BD MiniDraw collection was conducted at three retail sites (two pharmacies and one grocery store) by trained healthcare workers using the Babson BetterWay blood testing service model. A follow up survey was performed two weeks later to determine experience with, and preference for, BD MiniDraw in terms of staff professionalism, blood collection location, blood collection time, and staff trustworthiness. Results: Among the 107 participants, 74 (69%) were female and 33 (31%) were male; the mean age was 49 years (range=18-71 years). Sixty-six (62%) participants viewed their prior venipuncture experience as "somewhat" or "very" positive. Following capillary collection, 96 (90%) participants expressed a "somewhat" or "very" positive experience with BD MiniDraw at a retail location. In particular, "very satisfied" responses were given for location (87/107; 81%) and collection time (78/1407; 73%). In a subset of respondents (n=89), those reasons (location and time savings) were most frequent for likelihood of future use. Ninety-nine participants (92%) rated the retail blood collection team as "very" or "extremely" trustworthy. Overall, 90 participants (84%) "strongly preferred" (56/107; 52%), "somewhat preferred" (14/107; 13%), or had "no preference" (20/107; 19%) for BD MiniDraw, compared to traditional venous blood collection. Conclusion: Most participants conveyed a preference for BD MiniDraw, primarily based on the blood collection retail location, perceived time savings, and professionalism and trustworthiness of the staff.

The role of blood testing in prevention, diagnosis, and management of chronic diseases: A review.

Blood tests are vital to prevention, diagnosis, and management of chronic diseases. Despite this, it can be challenging to construct a comprehensive view of the clinical importance of blood testing because relevant literature is typically fragmented across different disease areas and patient populations. This lack of collated evidence can also make it difficult for primary care providers to adhere to best practices for blood testing across different diseases and guidelines. Thus, this review article synthesizes the recommendations for, and importance of, blood testing across several common chronic conditions encountered in primary care and internal medicine, including cardiovascular diseases, diabetes mellitus, chronic kidney disease, vitamin D deficiency, iron deficiency, and rheumatoid arthritis. Future research is needed to continue improving chronic disease management through clearer dissemination and awareness of clinical guidelines among providers, and better access to blood testing for patients (e.g., via pre-visit laboratory testing).