SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.

Haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1) is a recently discovered autoinflammatory disorder with significant rheumatologic, immunologic, and hematologic manifestations. Here we report a case of SOCS1 haploinsufficiency in a 5-year-old child with profound arthralgias and immune-mediated thrombocytopenia unmasked by SARS-CoV-2 infection. Her clinical manifestations were accompanied by excessive B cell activity, eosinophilia, and elevated IgE levels. Uniquely, this is the first report of SOCS1 haploinsufficiency in the setting of a chromosomal deletion resulting in complete loss of a single SOCS1 gene with additional clinical findings of bone marrow hypocellularity and radiologic evidence of severe enthesitis. Immunologic profiling showed a prominent interferon signature in the patient's peripheral blood mononuclear cells, which were also hypersensitive to stimulation by type I and type II interferons. The patient showed excellent clinical and functional laboratory response to tofacitinib, a Janus kinase inhibitor that disrupts interferon signaling. Our case highlights the need to utilize a multidisciplinary diagnostic approach and consider a comprehensive genetic evaluation for inborn errors of immunity in patients with an atypical immune-mediated thrombocytopenia phenotype.

Parental satisfaction with same-day discharge after laparoscopic appendectomy for uncomplicated appendicitis.

OBJECTIVES: Recent studies suggest that same-day discharge is safe for the paediatric population after various laparoscopic procedures. Same-day discharge is increasingly common after laparoscopic surgery for uncomplicated appendicitis although it is not standard practice. This prospective study aims to assess parental satisfaction with same-day discharge after laparoscopic appendectomy for uncomplicated appendicitis. METHODS: At our institution, 849 patients with uncomplicated acute appendicitis underwent laparoscopic appendectomy in 2016; of which, 382 were discharged on the same calendar day. Postdischarge surveys assessing parental satisfaction were administered by telephone at the 2-week follow-up. RESULTS: Approximately 65% of 185 total parental responses reported initial satisfaction with same-day discharge. About 30% were nervous at that time, and 5% did not feel ready to go home yet. Upon reflection, a higher proportion of parents (81.6%) felt same-day discharge was the appropriate course of action, 11.4% were unsure, and 7.0% would not do it again. Some parents cited concerns regarding pain control and incongruous expectations from conversations with staff or surgical experiences of their own. CONCLUSIONS: The majority of parents recalled being happy at discharge, with an increase to 82% retrospectively. Only 7% of parents would not elect to go home on the same day again. Opportunities for improvement include a unified plan from all providers with expectations of same-day discharge if appendicitis is intraoperatively confirmed to be uncomplicated and better analgesic instructions at discharge.

Same-day discharge vs. observation after laparoscopic pediatric appendectomy: a prospective cohort study.

BACKGROUND: Through 2015, the practice at our university based free-standing children's hospital was to admit uncomplicated appendicitis patients for overnight observation post-operatively. Given the increasing body of evidence suggesting the safety and feasibility of same-day discharge after appendectomy for uncomplicated appendicitis, we elected to perform a prospective study evaluating the complication rates of same-day discharge compared to overnight observation at our institution, given our large volume of appendicitis. METHODS: Pediatric patients who underwent laparoscopic appendectomies for uncomplicated appendicitis in 2016 were analyzed. Data regarding demographics, admission, and discharge times and outcomes of complications, as well as readmissions, return to the emergency department, and nonscheduled clinic visits were collected and analyzing using chi-square and multivariate regression. Cost of stay data was obtained and analyzed using Mann-Whitney U test to compare non-parametric variables. RESULTS: Eight hundred and forty-nine laparoscopic appendectomies were performed for uncomplicated appendicitis during the study period, of which 382 resulted in same-day discharge and 467 in an admission for observation. Univariate analysis revealed no statistical difference between readmission rates for same day vs. observation (2 vs. 6 patients; P=0.21) or in emergency department visits within 30 days (22 vs. 27 patients; P=0.98). There was no difference in the number of surgical site infections or extra clinic visits. There was a significantly lower median cost of stay for patients discharged home the same day at 29,150 dollars (25,644, 32,276, IQR) compared to a median of 34,827 dollars (31,154, 39,457, IQR) (P<0.0001). CONCLUSIONS: Same-day discharge for laparoscopic uncomplicated appendectomy should be the new standard of care. This study found no differences in outcomes between the timing of discharge, with a significantly lower cost of stay for patients discharged home the same day.

Safety and feasibility of same-day discharge for uncomplicated appendicitis: A prospective cohort study.

BACKGROUND: Appendicitis is the most common gastrointestinal pediatric surgical emergency. With the introduction of laparoscopic techniques in the 1990s, recovery, pain, and hospital stay after laparoscopic procedures have been significantly reduced. While many laparoscopic procedures are performed as outpatient surgeries, pediatric appendectomy patients continue to be hospitalized for postoperative observation. Our goal was to evaluate the safety and feasibility of same day discharge after laparoscopic appendectomy for uncomplicated appendicitis. METHODS: After IRB approval, all pediatric patients undergoing laparoscopic appendectomy during 2016 for noncomplicated appendicitis were eligible for the study. Decision for same day discharge was based on surgeon preference and parental agreement. Data regarding demographics, admission and discharge times, outcomes of complications, readmissions, return to the ED, and nonscheduled clinic visits were collected. RESULTS: A total of 1321 appendectomies were performed during the study period, of which 849 were uncomplicated and 382 were discharged same day. There were 2 readmissions, 4 superficial surgical site infections, 10 patients with nausea or vomiting, and 33 patients with pain control issues, 9 of whom presented to the ED. CONCLUSIONS: Same day discharge for laparoscopic noncomplicated appendectomy is a safe and feasible alternative to postoperative admission and observation. This has the potential to yield significant healthcare cost savings. LEVEL OF EVIDENCE: Level II, Prospective Cohort Study.

Blood pressure, ocular perfusion pressure, and body mass index in glaucoma patients.

PURPOSE: To investigate relationships between blood pressure (BP), ocular perfusion pressure (OPP), and intraocular pressure (IOP) in patients with open-angle glaucoma (OAG) of different body mass index (BMI) classes. 
 METHODS: Data from participants of a prospective, longitudinal, single site, observational study were analyzed. Patients with a prior diagnosis of OAG completed 2 baseline visits (1 week apart) with follow-up visits every 6 months for 2 years. At each visit, BP, weight, height, and IOP were recorded for normal-weight (BMI 18.5-24.9; n = 38), overweight (BMI 25.0-29.9; n = 43), and obese (BMI ≥30; n = 34) patients: The BP was measured using automated ambulatory measurements after 5 minutes rest and IOP was measured using Goldmann applanation tonometry.
 RESULTS: The IOP decreased from baseline to 2-year measurement in normal-weight (-1.5, 95% confidence interval [CI] -2.7 to -0.4), overweight (-1.9, 95% CI -3.4 to -0.4), and obese (-2.5, 95% CI -3.9 to -1.2) patients with OAG. Systolic BP (SBP) and OPP decreased from baseline to 2-year measurement in all 3 BMI categories, although not reaching statistical significance. In normal-weight patients, there was a significant, positive correlation between changes in IOP and SBP (r = 0.36, p = 0.0431). A significant, negative correlation was observed between changes in IOP and OPP in overweight (r = -0.56, p = 0.0002) and obese (r = -0.38, p = 0.0499) patients.
 CONCLUSIONS: This study demonstrated that in normal-weight individuals with OAG, changes in SBP were positively correlated to changes in IOP. However, this relationship did not exist for overweight or obese patients. Instead, overweight and obese patients displayed a negative correlation between OPP and IOP.

Delivery of intraocular triamcinolone acetonide in the treatment of macular edema.

Macular edema (ME) is one of the eventual outcomes of various intraocular and systemic pathologies. The pathogenesis for ME is not yet entirely understood; however, some of the common risk factors for its development have been identified. While this investigation will not discuss the numerous etiologies of ME in detail, it appraises the two most widely studied delivery modalities of intraocular corticosteroids in the treatment of ME-intravitreal injection (IVI) and sub-Tenon's infusion (STI). A thorough review of the medical literature was conducted to identify the efficacy and safety of IVI and STI, specifically for the administration of triamcinolone acetonide (TA), in the setting of ME in an attempt to elucidate a preferred steroid delivery modality for treatment of ME.