Partain, Paige

ABSTRACTObjectiveTo examine the outcomes of a clinical sample of young patients with restrictive eating disorders who received Family‐Based Treatment for Primary Care (FBT‐PC).MethodsParticipants were 134 youth (mean age = 15.7 years) and their caregiver(s). Participants and caregivers completed measures of eating disorder symptomatology, quality of life, and caregiver self‐efficacy.ResultsOf the 134 patients who received at least one session of FBT‐PC, 55.9% completed treatment, 20.1% were followed until they began a higher level of care, and 23.8% were non‐completers. Weekly measures for the full sample were evaluated using intention‐to‐treat analyses. Patient‐reported scores on the ED‐15 improved by −0.1 (SE = 0.02, F (1,133)= 26.4, p < 0.0001) per week, and caregivers' ratings of patient symptoms also improved by 0.85 (SE = 0.2, F (1,133)=13.1, p = 0.0003) per week. Patient's BMI percentile increased by 1.25 points per week (SE = 0.14, F (1,133) = 83.9, p < 0.0001). For patients who completed FBT‐PC, eating disorder symptoms, per patient‐ (M = −1.43, p < 0.0001) and caregiver‐report (M = −1.33 p < 0.0001) decreased significantly from baseline to end of treatment. Patient's quality of life increased significantly from baseline to end of treatment (M = 21.6, p < 0.0001) and caregivers showed significant increases in self‐efficacy (M = 3.41, p < 0.0001, d = 0.856). At the end of treatment, 62.5% of patients with complete data met criteria for full research remission, and 44.6% met criteria for full clinical remission.DiscussionFindings provide preliminary support for FBT‐PC as an effective treatment for youth with restrictive eating disorders. Additional research is needed to replicate these findings in other primary care settings and to understand the durability of treatment effects.

The striking rise in adolescent eating disorders since the severe acute respiratory coronavirus syndrome 2 pandemic has amplified demands for specialty eating disorders services and contributed to protracted delays in care. In the context of these delays, patients are at risk for increased weight loss, medical instability, escalating disease progression and poor prognosis. Primary care providers (PCPs) are frequently the first point of contact for young patients with eating disorders and are often left to bridge the gap while families struggle to establish specialty care. Yet, beyond case detection and medical comanagement, there are no evidence-based guidelines that can assist PCPs to prepare families for treatment, halt disease progression, and begin the lengthy process of weight and nutritional restoration in efforts to reduce medical complications and support a favorable prognosis. We present the case of a 13-year-old girl with a restrictive eating disorder to illustrate how PCPs can use intervention principles and strategies derived from evidence-based eating disorder treatment to successfully manage adolescent patients until they can access specialty treatment. We offer concrete guidelines for decision-making, as well as suggested behavioral and medical interventions for the PCP. With evidence-based tools, PCPs are well-positioned to support young patients with restrictive eating disorders and their family members as they begin the process of recovery from an eating disorder.

We report a 9-year-old Chinese girl with congenital thrombotic thrombocytopenic purpura found to be a compound heterozygote for 2 pathogenic variants in the ADAMTS13 gene, including a novel variation. The girl suffered from recurrent, life-threatening episodes of thrombocytopenia and hemolysis, and laboratory testing showed ADAMST13 enzyme activity of <5%. Sequencing of the ADAMTS13 gene revealed a previously reported missense variant, c.1787C>T (p.Ala596Val), and a novel duplication defined as c.1007_1025dup19 (p.Asp343Leufs*53); the duplication is predicted to result in a premature stop codon and protein truncation. We propose that this novel variant is partly responsible for the patient’s early-onset and severe phenotype.

AbstractBackgroundCholelithiasis is a frequent complication in pediatric sickle cell disease (SCD). Though it is standard practice to perform a cholecystectomy in pediatric SCD patients with symptoms of cholelithiasis, the use of elective cholecystectomy for asymptomatic patients remains controversial.ProcedureRecords of 191 pediatric sickle cell patients with cholelithiasis who underwent cholecystectomy were retrospectively reviewed. Patients classified as follows: (i) elective—no preoperative symptoms, cholelithiasis on screening ultrasound, comprehensive preoperative plan; (ii) symptomatic—preoperative symptoms of cholelithiasis on diagnostic ultrasound, comprehensive preoperative plan; or (iii) emergent—hospitalization for acute cholecystitis symptoms, cholelithiasis on diagnostic ultrasound, limited preoperative preparation. We compared the morbidity of cholecystectomy by examining pre‐ and post‐cholecystectomy hospital admission days, length of stay for cholecystectomy, and surgical complications.ResultsPatients with SCD underwent a total of 191 cholecystectomies over a 10‐year period: 51 elective, 110 symptomatic, and 30 emergent. Patients who required emergent cholecystectomy had a longer postoperative hospitalization time than elective or symptomatic cholecystectomy (7.3 vs 4.3, P < 0.001). Baseline values for total bilirubin and aspartate aminotransferase (AST) were significantly elevated (P < 0.02 and P < 0.07, respectively) in patients requiring emergent cholecystectomy.ConclusionsThis represents the largest reported retrospective review of pediatric cholelithiasis and cholecystectomy in SCD to date. These data strongly suggest that elective cholecystectomy decreases morbidity associated with emergent cholecystectomy. The overall outcomes for symptomatic and elective patients are favorable. However, our study indicates the need for prospective studies to identify clinical indicators for those emergent patients.